[ { "uniprot_canonical_ac": "Q99726-1", "uniprot_id": [ { "id": "ZNT3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99726", "type": "external" } ], "mass": 41945.0, "length": 388, "protein_name": "Probable proton-coupled zinc antiporter SLC30A3", "gene_name": "SLC30A3", "organism": "Human", "refseq_name": "probable proton-coupled zinc antiporter SLC30A3 isoform b", "refseq_ac": [ { "id": "NP_001305878", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305878", "type": "external" } ], "gene_names_uniprotkb": "SLC30A3; ZNT3", "gene_names_refseq": "SLC30A3; ZNT3", "protein_names_uniprotkb": "Probable proton-coupled zinc antiporter SLC30A3; Solute carrier family 30 member 3; Zinc transporter 3; ZnT-3", "protein_names_refseq": "probable proton-coupled zinc antiporter SLC30A3 isoform b; probable proton-coupled zinc antiporter SLC30A3; solute carrier family 30 (zinc transporter), member 3; zinc transporter 3; zinc transporter ZnT-3; znT-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:7781); (R-HSA-435368)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "11237011;14662799;15276077;17349999;19521526;26647834;29557506;30893306;31154438;31471319;32157095;32387766;32925049;33715270;34171305;34509645;35051231;35580925;36204728;38253038;8617223;8962159", "class_list": "", "function": "AIDL cells exhibited a lower expression of zinc transporter 1 (ZnT1) and higher expression of ZnT3 than LNCaP cells., [RefSeq, PubMed]; Epigenetic targeting of SLC30A3 by HDAC1 is related to the malignant phenotype of glioblastoma., [RefSeq, PubMed]; Increased Cerebrospinal Fluid Concentration of ZnT3 Is Associated with Cognitive Impairment in Alzheimer's Disease., [RefSeq, PubMed]; Probable proton-coupled zinc ion antiporter mediating the import of zinc from cytoplasm into synaptic vesicles and participating to cellular zinc ion homeostasis in the brain., [UniProtKB, PubMed, PubMed, PubMed, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8TC03", "ec_number_list": [], "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0046872 metal ion binding;GO:0015297 antiporter activity;GO:0008324 monoatomic cation transmembrane transporter activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0097457 hippocampal mossy fiber;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0010043 response to zinc ion;GO:0099180 zinc ion import into synaptic vesicle;GO:0140916 zinc ion import into lysosome;GO:0062111 zinc ion import into organelle", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q99726-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75489-1", "uniprot_id": [ { "id": "NDUS3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75489", "type": "external" } ], "mass": 30242.0, "length": 264, "protein_name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial", "gene_name": "NDUFS3", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial precursor", "refseq_ac": [ { "id": "NP_004542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004542", "type": "external" } ], "gene_names_uniprotkb": "NDUFS3", "gene_names_refseq": "CI-30; MC1DN8; NDUFS3", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial; 7.1.1.2; CI-30kD; Complex I-30kD; NADH-ubiquinone oxidoreductase 30 kDa subunit", "protein_names_refseq": "CI-30kD; NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase); NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial precursor; NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial; NADH dehydrogenase-ubiquinone 30 kDa subunit; NADH-ubiquinone oxidoreductase 30 kDa subunit; complex I 30kDa subunit; complex I-30kD", "tax_id": 9606, "disease": "Parkinsonism (Disease Ontology:DOID:0080855); nuclear type mitochondrial complex I deficiency 8 (Disease Ontology:DOID:0112081); Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:4722); (R-HSA-611105); (R-HSA-6799198); (R-HSA-9013408); (R-HSA-9837999)", "pathway_count": 5, "publication_count": 148, "publication_id_list": "10327278;10523675;10652265;10931946;10967146;11220739;11237011;11689693;11695836;11864571;11923310;11967128;12177196;12198491;12231006;12376551;12611891;12837546;1327877;14623864;14729820;14741580;15133129;15250827;15522782;15870080;16115876;16230336;16339170;17027967;17033964;17101804;17209039;17297443;17579211;17936786;186667;18826940;19463981;19581409;19713215;19752196;19841671;19892738;20406883;20552642;20679435;20858599;21621533;21924235;22262461;22499348;22710082;22734669;23150584;23201127;23255595;23270816;23301498;23553477;23564345;23747254;23931759;239860;24028823;24126823;24191001;24315374;24520911;24659802;25564869;25678554;25892735;26375851;26504172;26923599;26992070;27452731;27481945;27496948;27499296;27626371;27642048;28196833;28218747;28228285;28377575;28396416;28832583;28834231;28904123;29242379;29301859;29351928;29437277;29557506;29769354;29932645;30120231;30140060;30315122;30779550;31327635;31536960;31611695;31666358;31695197;31844290;31866046;31871319;32157095;32320651;32387766;32488085;33141586;33257573;33298915;33717175;33879611;33882309;33912179;33968037;34171305;34229054;34357683;34509645;34704252;34932366;34943861;35318648;35333655;35580925;35614220;35870450;36010968;36629048;37642954;38199007;40596516;40914422;4288886;7476457;7623837;8939998;9571201;9647766;9822605;9878551", "class_list": "", "function": "Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:14729820, PubMed:30140060). Essential for the catalytic activity and assembly of complex I (PubMed:14729820, PubMed:24028823, PubMed:30140060)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; NDUFB11 and NDUFS3 play a role in atherosclerosis and chronic stress., [RefSeq, PubMed]; This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 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": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2R9J1;B4DFM8;Q9UNQ8", "ec_number_list": [ { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "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": "2.3.1.37", "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": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "1.2.1.36", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.36", "type": "external" }, { "id": "1.7.1.-", "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": "2.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.2.1", "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": "1.1.1.42", "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": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.2.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.2", "type": "external" }, { "id": "1.1.1.30", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.30", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "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": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "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": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "2.1.1.320", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.320", "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": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "1.3.8.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.7", "type": "external" }, { "id": "1.3.8.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.8", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" }, { "id": "1.3.8.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.5", "type": "external" } ], "go_molecular_function": "GO:0003954 NADH dehydrogenase activity;GO:0009055 electron transfer activity;GO:0008137 NADH dehydrogenase (ubiquinone) 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:0021762 substantia nigra development;GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0072593 reactive oxygen species metabolic process;GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "O75489-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02833-1", "uniprot_id": [ { "id": "RASF7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02833", "type": "external" } ], "mass": 39945.0, "length": 373, "protein_name": "Ras association domain-containing protein 7", "gene_name": "RASSF7", "organism": "Human", "refseq_name": "ras association domain-containing protein 7 isoform 2", "refseq_ac": [ { "id": "NP_001137465", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137465", "type": "external" } ], "gene_names_uniprotkb": "RASSF7; C11orf13; HRC1", "gene_names_refseq": "C11orf13; CFAP88; FAP88; HRAS1; HRC1; RASSF7", "protein_names_uniprotkb": "Ras association domain-containing protein 7; HRAS1-related cluster protein 1", "protein_names_refseq": "HRAS1-related cluster protein 1; HRAS1-related cluster-1; Ras association (RalGDS/AF-6) domain family (N-terminal) member 7; Ras association (RalGDS/AF-6) domain family 7; ras association domain-containing protein 7 isoform 2; ras association domain-containing protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:8045)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "11237011;1339391;15098441;20629633;21278800;24715725;25576301;26884887;27846572;27920218;28063628;28832583;28904123;29242379;29393594;29493099;29557506;29632046;29729697;30139745;30484775;30833945;31154438;31844290;32157095;32387766;32502341;32938616;33298915;33592498;33968037;33981976;34171305;34561969;35051231;35580925;36010968;36215666;36241641;36284347", "class_list": "", "function": "'rare' alleles of HRas1 minisatellite are associated with increased risk of papillary thyroid cancer formation in children and adolescents after Chernobyl accident, [RefSeq, PubMed]; Negatively regulates stress-induced JNK activation and apoptosis by promoting MAP2K7 phosphorylation and inhibiting its ability to activate JNK. Following prolonged stress, anti-apoptotic effect stops because of degradation of RASSF7 protein via the ubiquitin-proteasome pathway. Required for the activation of AURKB and chromosomal congression during mitosis where it stimulates microtubule polymerization., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; RASSF7 competed with MAX in the formation of a heterodimeric complex with c-Myc and attenuated its occupancy on target gene promoters to regulate transcription., [RefSeq, PubMed]; RASSF7 promotes cell proliferation through activating MEK1/MEK2-ERK1/ERK2 signaling pathway in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Suggest that loss of RASSF7 expression results in apoptosis in nucleus pulposus cells in human intervertebral disc degeneration. 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": 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": "G5E9N9;Q3KP41;Q3KP42", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0034451 centriolar satellite;GO:0005813 centrosome", "go_biological_process": "GO:0007165 signal transduction;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q02833-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75081-1", "uniprot_id": [ { "id": "MTG16_HUMAN", "url": "https://www.uniprot.org/uniprot/O75081", "type": "external" } ], "mass": 71192.0, "length": 653, "protein_name": "Transcriptional corepressor CBFA2T3", "gene_name": "CBFA2T3", "organism": "Human", "refseq_name": "transcriptional corepressor CBFA2T3 isoform 1", "refseq_ac": [ { "id": "NP_005178", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005178", "type": "external" } ], "gene_names_uniprotkb": "CBFA2T3; MTG16; MTGR2; ZMYND4", "gene_names_refseq": "CBFA2T3; ETO2; MTG16; MTGR2; RUNX1T3; ZMYND4", "protein_names_uniprotkb": "Transcriptional corepressor CBFA2T3; MTG8-related protein 2; Myeloid translocation gene on chromosome 16 protein; Zinc finger MYND domain-containing protein 4; hMTG16", "protein_names_refseq": "CBFA2/RUNX1 translocation partner 3; MTG8-related gene 2; MTG8-related protein 2; core-binding factor, runt domain, alpha subunit 2; myeloid translocation gene 8 and 16b; myeloid translocation gene on chromosome 16 protein; transcriptional corepressor CBFA2T3 isoform 1; transcriptional corepressor CBFA2T3; translocated to, 3; zinc finger MYND domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:863)", "pathway_count": 1, "publication_count": 67, "publication_id_list": "10995019;11224496;11237011;11533236;11823486;11999578;12183414;12242670;12559562;15203199;15231665;15470020;15676213;16616331;16815842;16959974;16966434;18456661;19651622;20138877;22898188;23186163;23251453;23481700;23840896;24275569;24715725;25505266;25576301;25892735;25974097;26154972;26992070;27846572;27920218;28832583;28834231;28904123;29242379;29508533;29557506;29632711;29769354;29786170;30524438;31040112;31370031;31530632;31844290;32157095;32387766;32434928;32502341;32897882;32938616;32960220;33298915;33717175;33936100;33968037;34087483;34509645;34932366;35051231;38243303;9596646;9790752", "class_list": "", "function": "CBFA2T3 is functional in t(8;21) acute myeloid leukemia cells, a possible RUNX1-RUNX1T1-mediated direct interference of CBFA2T3 corepressor function may be compensated by a higher threshold level of CBFA2T3 expression that is needed to drive the relapse of t(8;21) acute myeloid leukemia., [RefSeq, PubMed]; CNS erythroblastic sarcoma: a potential emerging pediatric tumor type characterized by NFIA::RUNX1T1/3 fusions. Publication Status: Online-Only, [RefSeq, PubMed]; Embryonic erythropoiesis and hemoglobin switching require transcriptional repressor ETO2 to modulate chromatin organization., [RefSeq, PubMed]; In the first pediatric leukemia case in whom AML1-MTG16 was identified, the breakpoint of MTG16 was determined, and suggested as a possible characteristic of secondary leukemia., [RefSeq, PubMed]; Isoform 2 functions as an A-kinase-anchoring protein (PubMed:11823486)., [UniProtKB, PubMed]; The transcriptional corepressor CBFA2T3 inhibits all-trans-retinoic acid-induced myeloid gene expression and differentiation in acute myeloid leukemia., [RefSeq, PubMed]; These findings suggest rs13333659 in CBFA2T3 as a risk locus to modulate the decline rate of cerebrospinal fluid amyloid-beta42 peptide preceding the onset of clinical symptoms, [RefSeq, PubMed]; This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]., [RefSeq]; Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199, PubMed:16966434, PubMed:18456661). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Reduces the protein levels and stability of the transcriptinal regulator HIF1A; interacts with EGLN1 and promotes the HIF1A prolyl hydroxylation-dependent ubiquitination and proteasomal degradation pathway (PubMed:25974097). Contributes to inhibition of glycolysis and stimulation of mitochondrial respiration by down-regulating the expression of glycolytic genes including PFKFB3, PFKFB4, PDK1, PFKP, LDHA and HK1 which are direct targets of HIF1A (PubMed:23840896, PubMed:25974097). Regulates the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Plays a role in granulocyte differentiation (PubMed:15231665)., [UniProtKB, PubMed, 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": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 24, "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": "D3DX78;O60615;O60616;O60617;O75082;O75107;O75108;Q0P5Z6;Q6P5W6", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0030851 granulocyte differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0008285 negative regulation of cell population proliferation;GO:0001666 response to hypoxia", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "O75081-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B4DH59-1", "uniprot_id": [ { "id": "NBPFP_HUMAN", "url": "https://www.uniprot.org/uniprot/B4DH59", "type": "external" } ], "mass": 190189.0, "length": 1673, "protein_name": "NBPF family member NBPF26", "gene_name": "NBPF26", "organism": "Human", "refseq_name": "NBPF family member NBPF26 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001392449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001392449", "type": "external" } ], "gene_names_uniprotkb": "NBPF26", "gene_names_refseq": "NBPF26", "protein_names_uniprotkb": "NBPF family member NBPF26; Neuroblastoma breakpoint family member 26", "protein_names_refseq": "NBPF family member NBPF26 isoform 1 precursor; NBPF family member NBPF26; neuroblastoma breakpoint family member 26", "tax_id": 9606, "disease": "", "pathway": " (hsa:101060684)", "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": 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": "A0A087WY62", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm", "go_biological_process": "GO:0048731 system development;GO:0009967 positive regulation of signal transduction;GO:0048513 animal organ development", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "B4DH59-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BY79-1", "uniprot_id": [ { "id": "MFRP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BY79", "type": "external" } ], "mass": 62212.0, "length": 579, "protein_name": "Membrane frizzled-related protein", "gene_name": "MFRP", "organism": "Human", "refseq_name": "membrane frizzled-related protein", "refseq_ac": [ { "id": "NP_113621", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_113621", "type": "external" } ], "gene_names_uniprotkb": "MFRP", "gene_names_refseq": "CTRP5; MCOP5; MFRP; NNO2; RD6", "protein_names_uniprotkb": "Membrane frizzled-related protein; Membrane-type frizzled-related protein", "protein_names_refseq": "C1q and TNF related 5; membrane frizzled-related protein; membrane-type frizzled-related protein", "tax_id": 9606, "disease": "isolated microphthalmia 5 (Disease Ontology:DOID:0060837); late-onset retinal degeneration (Disease Ontology:DOID:0060869); nanophthalmos (Disease Ontology:DOID:0080634); retinitis pigmentosa (Disease Ontology:DOID:10584); microphthalmia (Disease Ontology:DOID:10629); fundus albipunctatus (Disease Ontology:DOID:11105); hyperopia (Disease Ontology:DOID:9834)", "pathway": " (hsa:83552)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;11263980;12944416;15976030;16123440;16352475;16442268;17122143;17167404;26583794;29557506;32387766;33968037;35051231;35580925;36255095;37501562;38557281;38848879", "class_list": "", "function": "Comprehensive genetic analysis uncovers the mutational spectrum of MFRP and its genotype-phenotype correlation in a large cohort of Chinese microphthalmia patients., [RefSeq, PubMed]; Describes the role of CTRP5 in disease, in addition to the bicistronic nature of CTRP5 and MFRP, which is confirmed by RT-PCR., [RefSeq, PubMed]; Extreme hyperopia (Nanophthalmos) is the result of null mutations in MFRP., [RefSeq, PubMed]; May play a role in eye development., [UniProtKB, PubMed]; Membrane Frizzled-Related Protein-Related Disease Mimicking Idiopathic Intracranial Hypertension., [RefSeq, PubMed]; Mutation of the membrane-type frizzled-related protein gene is associated with inherited retinal degenerations, [RefSeq, PubMed]; Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients., [RefSeq, PubMed]; Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients., [RefSeq, PubMed]; This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 18, "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": "B0YJ36;B0YJ37;B4DHN8;Q335M3;Q96DQ9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0016324 apical plasma membrane;GO:0005886 plasma membrane", "go_biological_process": "GO:0009792 embryo development ending in birth or egg hatching", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9BY79-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15374-1", "uniprot_id": [ { "id": "MOT5_HUMAN", "url": "https://www.uniprot.org/uniprot/O15374", "type": "external" } ], "mass": 54022.0, "length": 487, "protein_name": "Probable monocarboxylate transporter 5", "gene_name": "SLC16A4", "organism": "Human", "refseq_name": "probable monocarboxylate transporter 5 isoform 2", "refseq_ac": [ { "id": "NP_001188475", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188475", "type": "external" } ], "gene_names_uniprotkb": "SLC16A4; MCT4; MCT5", "gene_names_refseq": "MCT4; MCT5; SLC16A4", "protein_names_uniprotkb": "Probable monocarboxylate transporter 5; MCT 4; MCT 5; Monocarboxylate transporter 4; Solute carrier family 16 member 4", "protein_names_refseq": "MCT 4; MCT 5; monocarboxylate transporter 4; monocarboxylate transporter 5; probable monocarboxylate transporter 5 isoform 2; probable monocarboxylate transporter 5; solute carrier family 16 (monocarboxylic acid transporters), member 4; solute carrier family 16, member 4 (monocarboxylic acid transporter 5)", "tax_id": 9606, "disease": "", "pathway": " (hsa:9122)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;27600516;29242379;29557506;30429286;30833945;31154438;31844290;31848261;32157095;32502341;32938616;33592498;34171305;35051231;35580925;35615882;35750090;36284347;37816756;38661040;38733581;9425115", "class_list": "", "function": "GLUT1, LDHA, and MCT4 Expression Is Deregulated in Cervical Cancer and Precursor Lesions., [RefSeq, PubMed]; MCT4 and CD147 colocalize with MMP14 in invadopodia and support matrix degradation and invasion by breast cancer cells., [RefSeq, PubMed]; Macrophage MCT4 inhibition activates reparative genes and protects from atherosclerosis by histone H3 lysine 18 lactylation. Erratum:[Cell Rep. 2024 Oct 22;43(10):114884. doi: 10.1016/j.celrep.2024.114884. PMID: 39392757], [RefSeq, PubMed]; Maternal obesity-associated disruption of polarized lactate transporter MCT4 expression in human placenta., [RefSeq, PubMed]; Probable monocarboxylate transporter., [UniProtKB, UniProtKB]; SYVN1-mediated ubiquitylation directs localization of MCT4 in the plasma membrane to promote the progression of lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K3V5;B2R9C9;B4DJ67;B4DPX7;E7EPY8;G3V175;Q5T612;Q8WU09", "ec_number_list": [], "go_molecular_function": "GO:0015293 symporter activity;GO:0008028 monocarboxylic acid transmembrane transporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0015718 monocarboxylic acid transport;GO:1905039 carboxylic acid transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "O15374-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969V6-1", "uniprot_id": [ { "id": "MRTFA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969V6", "type": "external" } ], "mass": 98919.0, "length": 931, "protein_name": "Myocardin-related transcription factor A", "gene_name": "MRTFA", "organism": "Human", "refseq_name": "myocardin-related transcription factor A isoform 1", "refseq_ac": [ { "id": "NP_001269589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269589", "type": "external" } ], "gene_names_uniprotkb": "MRTFA; KIAA1438; MAL; MKL1", "gene_names_refseq": "BSAC; MAL; MKL1; MKL; MRTF-A; MRTFA", "protein_names_uniprotkb": "Myocardin-related transcription factor A; MKL/myocardin-like protein 1; MRTF-A; Megakaryoblastic leukemia 1 protein; Megakaryocytic acute leukemia protein", "protein_names_refseq": "MKL/myocardin-like protein 1; alternative protein MKL1; basic, SAP and coiled-coil domain; megakaryoblastic leukemia (translocation) 1; megakaryoblastic leukemia 1 protein; megakaryocytic acute leukemia protein; myocardin-related transcription factor A isoform 1", "tax_id": 9606, "disease": "immunodeficiency 66 (Disease Ontology:DOID:0111998); Alzheimer's disease (Disease Ontology:DOID:10652); transient cerebral ischemia (Disease Ontology:DOID:224); acute megakaryocytic leukemia (Disease Ontology:DOID:8761)", "pathway": " (hsa:57591); (R-HSA-3899300); (R-HSA-5663220)", "pathway_count": 3, "publication_count": 168, "publication_id_list": "10.1101/2023.09.13.557529;10600384;10678165;10958683;11237011;11344311;11431691;11477070;11842083;12150977;12429848;12529333;12577064;12679040;12718889;12732141;12805219;12944485;14565952;15006353;15085137;15507212;15766567;15864301;15866170;15944396;15958389;15976810;16098147;16292343;16439214;16622419;16622420;16757475;16943183;17030981;17079232;17081983;17081986;17129783;17198702;17298944;17322306;17369852;1737036;17535915;17803295;17942393;18001770;18082607;18097444;18211901;18339323;18477386;18488044;18669648;18694962;18923426;19240082;19350017;19413330;19596686;19615980;19651622;19664994;19664995;19815554;19995069;20030946;20068231;20098713;20101212;20176810;20591975;20676127;21148482;21209280;21338522;21397845;21406692;21527249;21576392;21868368;22094460;22139079;22275430;22424782;22467880;22608513;22713328;22790947;23186163;23222643;23301498;23404503;23481700;23673342;23801653;24275569;24424023;24440334;24715725;24914801;25114211;25218447;25505266;25576301;25645385;25800734;26154972;26224645;26375851;26992070;27492266;28228285;28657654;28832583;28904123;29242379;29351928;29493099;29557506;29632711;29786170;30315122;30429286;30524438;30833945;31154438;31844290;31848261;31937595;32157095;32350084;32357974;32387766;32502341;32897882;32938616;32938750;32983136;33141586;33298915;33392160;33592498;33691108;33936100;33968037;34171305;34211107;34509645;34561969;35051231;35154160;35254053;35561310;35580925;36010968;36241641;36284347;36601855;37154247;37164693;37199168;37938771;38665916;40307207;9649308", "class_list": "", "function": "INKILN is a Novel Long Noncoding RNA Promoting Vascular Smooth Muscle Inflammation via Scaffolding MKL1 and USP10., [RefSeq, PubMed]; MRTF-A/SRF signaling suppresses invasion of oral squamous cell carcinoma., [RefSeq, PubMed]; Role of CRP2-MRTF interaction in functions of myofibroblasts., [RefSeq, PubMed]; Role of MKL1 in serum induction of c-fos and other SRE-regulated genes with a dominant negative MKL1 mutant (DN-MKL1) and RNA interference (RNAi) was assessed. DN-MKL1 and RNAi specifically blocked SRE-dependent reporter gene activation by serum and RhoA, [RefSeq, PubMed]; SRF/MRTF-A and liver cirrhosis: Pathologic associations. Review article, [RefSeq, PubMed]; TGFB1-mediated induction of the short MKL1 isoform initiates progression to later stages of differentiation towards a stationary myofibroblast., [RefSeq, PubMed]; The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]; Transcription coactivator that associates with the serum response factor (SRF) transcription factor to control expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration (PubMed:26224645). The SRF-MRTFA complex activity responds to Rho GTPase-induced changes in cellular globular actin (G-actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics. MRTFA binds G-actin via its RPEL repeats, regulating activity of the MRTFA-SRF complex. Activity is also regulated by filamentous actin (F-actin) in the nucleus., [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": 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": 35, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q8TCL1;Q96SC5;Q96SC6;Q9P2B0", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003779 actin binding;GO:0003785 actin monomer binding;GO:0043522 leucine zipper domain binding;GO:0004864 protein phosphatase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031965 nuclear membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0030036 actin cytoskeleton organization;GO:0051145 smooth muscle cell differentiation;GO:1902895 positive regulation of miRNA transcription", "synthesized_glycan_count": 0, "hit_score": 17.6, "record_id": "Q969V6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5U5Q3-1", "uniprot_id": [ { "id": "MEX3C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5U5Q3", "type": "external" } ], "mass": 69366.0, "length": 659, "protein_name": "RNA-binding E3 ubiquitin-protein ligase MEX3C", "gene_name": "MEX3C", "organism": "Human", "refseq_name": "RNA-binding E3 ubiquitin-protein ligase MEX3C", "refseq_ac": [ { "id": "NP_057710", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057710", "type": "external" } ], "gene_names_uniprotkb": "MEX3C; BM-013; RKHD2; RNF194", "gene_names_refseq": "BM-013; MEX-3C; MEX3C; RKHD2; RNF194", "protein_names_uniprotkb": "RNA-binding E3 ubiquitin-protein ligase MEX3C; 2.3.2.27; RING finger and KH domain-containing protein 2; RING finger protein 194; RING-type E3 ubiquitin transferase MEX3C", "protein_names_refseq": "RING finger and KH domain-containing protein 2; RING finger protein 194; RING-type E3 ubiquitin transferase MEX3C; RNA-binding E3 ubiquitin-protein ligase MEX3C; RNA-binding protein MEX3C; ring finger and KH domain containing 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:51320); (R-HSA-983168)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "11062501;11237011;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;17015768;17267406;18662542;19028597;19352404;19452197;19489725;19651622;19664995;19851334;19874575;19940261;2261476;22863774;23186163;23446422;25576301;26154972;26992070;27846572;28832583;29242379;30315122;30779550;31154438;31217245;31844290;32157095;32265295;32387766;32488085;32502341;32897882;32938616;33109704;33691108;33896797;33968037;33981976;34932366;35051231;35580925;36112698;36215666;37828435;37938771;38424632;39894887;9380723;9668046", "class_list": "", "function": "Circ_0007841 accelerates ovarian cancer development through facilitating MEX3C expression by restraining miR-151-3p activity., [RefSeq, PubMed]; E3 ubiquitin ligase responsible for the post-transcriptional regulation of common HLA-A allotypes. Binds to the 3' UTR of HLA-A2 mRNA, and regulates its levels by promoting mRNA decay. RNA binding is sufficient to prevent translation, but ubiquitin ligase activity is required for mRNA degradation., [UniProtKB, PubMed, PubMed]; In combination sibling-pair linkage analysis and case-control association studies of chromosome 18, RKHD2 is found to contribute to the genetic susceptibility of essential hypertension., [RefSeq, PubMed]; MEX3C as a potential target for hepatocellular carcinoma drug and immunity: combined therapy with Lenvatinib. Publication Status: Online-Only, [RefSeq, PubMed]; MEX3C-Mediated Decay of SOCS3 mRNA Promotes JAK2/STAT3 Signaling to Facilitate Metastasis in Hepatocellular Carcinoma., [RefSeq, PubMed]; This gene encodes a member of a family of proteins with two K homology (KH) RNA-binding domains and a C-terminal RING-finger domain. The protein interacts with mRNA via the KH domains, and the protein shuttles between the nucleus and cytoplasm. Polymorphisms in this gene may contribute to hypertension. [provided by RefSeq, Oct 2009]., [RefSeq]; Ubiquitylation of RUNX3 by RNA-binding ubiquitin ligase MEX3C promotes tumorigenesis in lung adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 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": "A1L022;Q9NZE3", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q5U5Q3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96M43-1", "uniprot_id": [ { "id": "NBPF4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96M43", "type": "external" } ], "mass": 72053.0, "length": 638, "protein_name": "NBPF family member NBPF4", "gene_name": "NBPF4", "organism": "Human", "refseq_name": "NBPF family member NBPF4", "refseq_ac": [ { "id": "NP_001137461", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137461", "type": "external" } ], "gene_names_uniprotkb": "NBPF4", "gene_names_refseq": "NBPF4", "protein_names_uniprotkb": "NBPF family member NBPF4; Neuroblastoma breakpoint family member 4", "protein_names_refseq": "NBPF family member NBPF4; neuroblastoma breakpoint family member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:148545)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;16079250;34087483", "class_list": "", "function": "This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5T483", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q96M43-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0C1-1", "uniprot_id": [ { "id": "ZMY12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0C1", "type": "external" } ], "mass": 41818.0, "length": 365, "protein_name": "Zinc finger MYND domain-containing protein 12", "gene_name": "ZMYND12", "organism": "Human", "refseq_name": "zinc finger MYND domain-containing protein 12 isoform 2", "refseq_ac": [ { "id": "NP_001139664", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139664", "type": "external" } ], "gene_names_uniprotkb": "ZMYND12", "gene_names_refseq": "ZMYND12", "protein_names_uniprotkb": "Zinc finger MYND domain-containing protein 12", "protein_names_refseq": "zinc finger MYND domain-containing protein 12 isoform 2; zinc finger MYND domain-containing protein 12; zinc finger, MYND domain containing 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:84217)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11230166;11237011;23481700;28228285;30315122;31844290;32157095;35051231;35580925;37934199", "class_list": "", "function": "Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function. Publication Status: Online-Only, [RefSeq, PubMed]; Required for sperm flagellum function and male fertility., [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": 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": "Q5VUS6;Q8TC87;Q96M51", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0036126 sperm flagellum", "go_biological_process": "GO:0030317 flagellated sperm motility;GO:0048240 sperm capacitation;GO:0007288 sperm axoneme assembly", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9H0C1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13508-1", "uniprot_id": [ { "id": "NAR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13508", "type": "external" } ], "mass": 43923.0, "length": 389, "protein_name": "Ecto-ADP-ribosyltransferase 3", "gene_name": "ART3", "organism": "Human", "refseq_name": "ecto-ADP-ribosyltransferase 3 isoform a precursor", "refseq_ac": [ { "id": "NP_001123488", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001123488", "type": "external" } ], "gene_names_uniprotkb": "ART3; TMART", "gene_names_refseq": "ART3; ARTC3", "protein_names_uniprotkb": "Ecto-ADP-ribosyltransferase 3; 2.4.2.31; ADP-ribosyltransferase C2 and C3 toxin-like 3; ARTC3; Mono(ADP-ribosyl)transferase 3; NAD(P)(+)--arginine ADP-ribosyltransferase 3", "protein_names_refseq": "ADP-ribosyltransferase C2 and C3 toxin-like 3; NAD(P)(+)--arginine ADP-ribosyltransferase 3; ecto-ADP-ribosyltransferase 3 isoform a precursor; ecto-ADP-ribosyltransferase 3; mono(ADP-ribosyl)transferase 3; mono-ADP-ribosyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:419); (R-HSA-163125)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "11072085;11237011;16625277;16934346;18266473;20106667;22171320;23090970;24190977;2443973;27374177;28718531;29741879;30459171;31154438;32488085;33968037;3422494;37074911;8605984;9119374", "class_list": "", "function": "ART3 expression appears to be governed by a combination of differential splicing and tissue-preferential use of two alternative promoters., [RefSeq, PubMed]; ART3 protein is expressed in testes in particular on spermatocytes, indicating that ART3 exerts a specific function only required at a particular stage of spermatogenesis., [RefSeq, PubMed]; Genome-wide gene expression analyses were used to identify genes involved in the pathogenesis of non-obstructive azoospermia, and ART3 was subsequently identified as a susceptibility gene GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Knockdown of ART3 in breast cancer cells inhibited cell proliferation and invasion., [RefSeq, PubMed]; This gene encodes an arginine-specific ADP-ribosyltransferase. The encoded protein catalyzes a reversible reaction which modifies proteins by the addition or removal of ADP-ribose to an arginine residue to regulate the function of the modified protein. An ADP-ribosyltransferase pseudogene is located on chromosome 11. 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": 1, "reported_o_glycosites": 1, "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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 9, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q53XW3;Q6FHT7;Q8WVJ7;Q93069;Q96HL1", "ec_number_list": [ { "id": "3.4.11.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.9", "type": "external" }, { "id": "3.5.1.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.92", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "3.4.17.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.12", "type": "external" }, { "id": "2.4.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.31", "type": "external" }, { "id": "3.1.4.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.50", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.286", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286", "type": "external" } ], "go_molecular_function": "GO:0016779 nucleotidyltransferase activity;GO:0003950 NAD+ poly-ADP-ribosyltransferase activity;GO:0106274 NAD+-protein-arginine ADP-ribosyltransferase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0098552 side of membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q13508-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3J2-1", "uniprot_id": [ { "id": "METL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3J2", "type": "external" } ], "mass": 54041.0, "length": 472, "protein_name": "N(6)-adenine-specific methyltransferase METTL4", "gene_name": "METTL4", "organism": "Human", "refseq_name": "N(6)-adenine-specific methyltransferase METTL4 isoform 1", "refseq_ac": [ { "id": "NP_073751", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073751", "type": "external" } ], "gene_names_uniprotkb": "METTL4", "gene_names_refseq": "HsT661; METTL4", "protein_names_uniprotkb": "N(6)-adenine-specific methyltransferase METTL4; 2.1.1.-; 2.1.1.72; Methyltransferase-like protein 4; N(6)-adenine-specific DNA methyltransferase METTL4; snRNA (2'-O-methyladenosine-N(6)-)-methyltransferase METTL4", "protein_names_refseq": "N(6)-adenine-specific DNA methyltransferase METTL4; N(6)-adenine-specific methyltransferase METTL4 isoform 1; N(6)-adenine-specific methyltransferase METTL4; methyltransferase like 4; methyltransferase-like protein 4; snRNA (2'-O-methyladenosine-N(6)-)-methyltransferase METTL4", "tax_id": 9606, "disease": "", "pathway": " (hsa:64863)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;21248752;23834954;27373337;30315122;30379171;30779550;31092671;31844290;31913360;32157095;32161166;32183942;32203414;32488085;32813009;33912179;33968037;35051231;35162982;35318648;35580925", "class_list": "", "function": "Associations revealed between genetic polymorphisms located in the flanking region of the ARID1B genes and hypoesthesia Publication Status: Online-Only, [RefSeq, PubMed]; For the methylation of adenosine in RNA, Mettl3 is the catalytically active subunit, while Mettl14 plays a structural role critical for substrate recognition., [RefSeq, PubMed]; METTL4 catalyzes m6Am methylation in U2 snRNA to regulate pre-mRNA splicing. GeneRIF: METTL4 methylates U2 snRNA Am at position 30 to generate m6Am in vivo. 'HMAGKD', where H = A/C/U, M = A/C, K = G/U, D = A/G/U, and A is the methylation site, is METTL4's in vivo preferred target motif., [RefSeq, PubMed]; METTL4 is an snRNA m(6)Am methyltransferase that regulates RNA splicing., [RefSeq, PubMed]; N(6)-Deoxyadenosine Methylation in Mammalian Mitochondrial DNA., [RefSeq, PubMed]; N(6)-adenine-specific methyltransferase that can methylate both RNAs and DNA (PubMed:31913360, PubMed:32183942). Acts as a N(6)-adenine-specific RNA methyltransferase by catalyzing formation of N6,2'-O-dimethyladenosine (m6A(m)) on internal positions of U2 small nuclear RNA (snRNA): methylates the 6th position of adenine residues with a pre-deposited 2'-O-methylation (PubMed:31913360). Internal m6A(m) methylation of snRNAs regulates RNA splicing (PubMed:31913360). Also able to act as a N(6)-adenine-specific DNA methyltransferase by mediating methylation of DNA on the 6th position of adenine (N(6)-methyladenosine) (PubMed:32183942). The existence of N(6)-methyladenosine (m6A) on DNA is however unclear in mammals, and additional evidences are required to confirm the role of the N(6)-adenine-specific DNA methyltransferase activity of METTL4 in vivo (PubMed:32203414). Acts as a regulator of mitochondrial transcript levels and mitochondrial DNA (mtDNA) copy number by mediating mtDNA N(6)-methylation: m6A on mtDNA reduces transcription by repressing TFAM DNA-binding and bending (PubMed:32183942). N(6)-methyladenosine deposition by METTL4 regulates Polycomb silencing by triggering ubiquitination and degradation of sensor proteins ASXL1 and MPND, leading to inactivation of the PR-DUB complex and subsequent preservation of Polycomb silencing (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; N-6-Methyladenosine in Vasoactive microRNAs during Hypoxia; A Novel Role for METTL4. 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": 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": "B2RNA1;Q2TAA7;Q9H5U9", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.72", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.72", "type": "external" } ], "go_molecular_function": "GO:0009007 site-specific DNA-methyltransferase (adenine-specific) activity;GO:0003676 nucleic acid binding;GO:0008173 RNA methyltransferase activity;GO:0106347 U2 snRNA 2'-O-methyladenosine m6 methyltransferase activity;GO:0008757 S-adenosylmethionine-dependent methyltransferase activity", "go_cellular_component": "GO:0036396 RNA N6-methyladenosine methyltransferase complex;GO:0005634 nucleus;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0043484 regulation of RNA splicing;GO:0045814 negative regulation of gene expression, epigenetic;GO:0032259 methylation;GO:0090296 regulation of mitochondrial DNA replication;GO:0120049 snRNA (adenine-N6)-methylation", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8N3J2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2B2-1", "uniprot_id": [ { "id": "SYT4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2B2", "type": "external" } ], "mass": 47958.0, "length": 425, "protein_name": "Synaptotagmin-4", "gene_name": "SYT4", "organism": "Human", "refseq_name": "synaptotagmin-4", "refseq_ac": [ { "id": "NP_065834", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065834", "type": "external" } ], "gene_names_uniprotkb": "SYT4; KIAA1342", "gene_names_refseq": "HsT1192; SYT4", "protein_names_uniprotkb": "Synaptotagmin-4; Synaptotagmin IV; SytIV", "protein_names_refseq": "synaptotagmin IV; synaptotagmin-4; sytIV", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:6860)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10938284;11237011;23999003;26337083;29166604;29557506;29656931;31154438;32161166;33091337;33298915;34357683;35051231;35580925", "class_list": "", "function": "Data show although no any significant differences between patient groups and lean subjects of proteins SYT4, BAG3, APOA1, and VAV3, except for VGF protein, there was a trend between the expression of these four genes and their protein levels., [RefSeq, PubMed]; Synaptotagmin family member which does not bind Ca(2+) (By similarity) (PubMed:23999003). Involved in neuronal dense core vesicles (DCVs) mobility through its interaction with KIF1A. Upon increased neuronal activity, phosphorylation by MAPK8/JNK1 destabilizes the interaction with KIF1A and captures DCVs to synapses (By similarity). Plays a role in dendrite formation by melanocytes (PubMed:23999003)., [UniProtKB, UniProtKB, PubMed]; Syt4 Overexpression Represses Basal Insulin Secretion and Impairs Islet Morphogenesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DEU3;Q9P2K4", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005544 calcium-dependent phospholipid binding;GO:0000149 SNARE binding;GO:0061891 calcium ion sensor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098992 neuronal dense core vesicle;GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0030424 axon", "go_biological_process": "GO:2000301 negative regulation of synaptic vesicle exocytosis;GO:1903861 positive regulation of dendrite extension;GO:0050709 negative regulation of protein secretion;GO:0007613 memory;GO:0030100 regulation of endocytosis", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9H2B2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N594-1", "uniprot_id": [ { "id": "MPND_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N594", "type": "external" } ], "mass": 50662.0, "length": 471, "protein_name": "MPN domain-containing protein", "gene_name": "MPND", "organism": "Human", "refseq_name": "MPN domain-containing protein isoform 2", "refseq_ac": [ { "id": "NP_001153318", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001153318", "type": "external" } ], "gene_names_uniprotkb": "MPND", "gene_names_refseq": "MPND", "protein_names_uniprotkb": "MPN domain-containing protein; 3.4.-.-", "protein_names_refseq": "MPN domain-containing protein isoform 2; MPN domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:84954)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;17081983;21406692;23481700;26992070;27846572;27920218;28832583;28834231;29242379;29393594;29493099;29557506;30315122;30410026;30429286;30833945;30982744;31217245;31844290;31998317;32357974;32387766;32502341;32938616;33141586;33298915;33592498;33691108;33912179;34171305;34357683;34509645;34932366;35051231;35580925;36241641;36284347", "class_list": "", "function": "Probable protease (By similarity). Acts as a sensor of N(6)-methyladenosine methylation on DNA (m6A): recognizes and binds m6A DNA, leading to its degradation (PubMed:30982744). Binds only double strand DNA (dsDNA) in a sequence-independent manner (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; Probable protease. Acts as a sensor of N(6)-methyladenosine methylation on DNA (m6A): recognizes and binds m6A DNA, leading to its degradation. Binds only double strand DNA (dsDNA) in a sequence-independent manner., [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": 3, "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": "Q96SJ0;Q9Y2P1;Q9Y2P2", "ec_number_list": [], "go_molecular_function": "GO:0008237 metallopeptidase activity;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0046872 metal ion binding;GO:0140492 metal-dependent deubiquitinase activity", "go_cellular_component": "GO:0070552 BRISC complex;GO:0070531 BRCA1-A complex", "go_biological_process": "GO:0006508 proteolysis;GO:0006302 double-strand break repair", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q8N594-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TAG4-1", "uniprot_id": [ { "id": "NBPFC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TAG4", "type": "external" } ], "mass": 167689.0, "length": 1457, "protein_name": "NBPF family member NBPF12", "gene_name": "NBPF12", "organism": "Human", "refseq_name": "NBPF family member NBPF12", "refseq_ac": [ { "id": "NP_001265070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265070", "type": "external" } ], "gene_names_uniprotkb": "NBPF12; COAS1; KIAA1245", "gene_names_refseq": "COAS1; KIAA1245; NBPF12", "protein_names_uniprotkb": "NBPF family member NBPF12; Chromosome 1 amplified sequence 1; Neuroblastoma breakpoint family member 12", "protein_names_refseq": "NBPF family member NBPF12; chomosome one amplified sequence 1 cyclophilin; chromosome 1 amplified sequence 1; neuroblastoma breakpoint family member 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:149013)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;11948409;16079250;31217245", "class_list": "", "function": "Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in 1q21; (COAS1, COAS2, COAS3), [RefSeq, PubMed]; This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0A087WUF1;O95877", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q5TAG4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BV36-1", "uniprot_id": [ { "id": "MELPH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BV36", "type": "external" } ], "mass": 65949.0, "length": 600, "protein_name": "Melanophilin", "gene_name": "MLPH", "organism": "Human", "refseq_name": "melanophilin isoform 2", "refseq_ac": [ { "id": "NP_001035932", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035932", "type": "external" } ], "gene_names_uniprotkb": "MLPH; SLAC2A", "gene_names_refseq": "MLPH; SLAC2-A", "protein_names_uniprotkb": "Melanophilin; Exophilin-3; SlaC2-a; Slp homolog lacking C2 domains a; Synaptotagmin-like protein 2a", "protein_names_refseq": "exophilin-3; melanophilin isoform 2; slp homolog lacking C2 domains a; synaptotagmin-like protein 2a; synaptotagmin-like protein homologue lacking C2 domains-a", "tax_id": 9606, "disease": "Griscelli syndrome type 3 (Disease Ontology:DOID:0060834)", "pathway": " (hsa:79083); (R-HSA-9824585)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10587587;11237011;11532965;11856727;11964381;11980908;12062444;12189142;12897212;1321344;1537333;1537334;15543135;15695812;15729346;16303920;17182843;17952075;18483556;18697795;18812475;19389701;19717472;22869377;24267888;25576301;25645385;26694611;27543614;27600516;27846572;27869121;29331515;29371260;29557506;29786170;30515787;30779550;30833945;31154438;31844290;31848261;31978414;32157095;32488085;32938616;33100333;33537174;33968037;33981976;34087483;34185709;35051231;35318648;35580127;35580925;36284347;37950039;39083977;7813420;8306979;8921401;9758418", "class_list": "", "function": "Links rab27a and myosin Va function in melanosome transport, [RefSeq, PubMed]; MLPH is a novel adipogenic factor controlling redox homeostasis to inhibit lipid peroxidation in adipocytes., [RefSeq, PubMed]; Melanophilin has a role in bridging Rab27a on melanosomes and myosin Va on actin filaments during melanosome transport., [RefSeq, PubMed]; RAB27A/Melanophilin Blocker Inhibits Melanoma Cell Motility and Invasion., [RefSeq, PubMed]; Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A., [UniProtKB, PubMed]; SHD1 of Slac2-a/melanophilin alone is both necessary and sufficient for high affinity specific recognition of the GTP-bound form of Rab27A, [RefSeq, PubMed]; Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport GeneRIF: Slac2-a/melanophilin contains an N-terminal Slp homology domain (SHD) (PMID: 11327731). The SHD of Slac2-a specifically and directly binds the GTP-bound form of Rab27A and Rab27B (PMID: 11773082). The C-terminus of Slac2-a directly binds myosin Va., [RefSeq, PubMed]; This gene encodes a member of the exophilin subfamily of Rab effector proteins. The protein forms a ternary complex with the small Ras-related GTPase Rab27A in its GTP-bound form and the motor protein myosin Va. A similar protein complex in mouse functions to tether pigment-producing organelles called melanosomes to the actin cytoskeleton in melanocytes, and is required for visible pigmentation in the hair and skin. A mutation in this gene results in Griscelli syndrome type 3, which is characterized by a silver-gray hair color and abnormal pigment distribution in the hair shaft. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [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": 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": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 13, "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": "B3KSS2;B4DKW7;G5E9G5;Q9HA71", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0008270 zinc ion binding;GO:0030674 protein-macromolecule adaptor activity;GO:0017022 myosin binding;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0030425 dendrite;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome;GO:0030864 cortical actin cytoskeleton", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0032402 melanosome transport", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9BV36-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000010001001.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75352-1", "uniprot_id": [ { "id": "MPU1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75352", "type": "external" } ], "mass": 26638.0, "length": 247, "protein_name": "Mannose-P-dolichol utilization defect 1 protein", "gene_name": "MPDU1", "organism": "Human", "refseq_name": "mannose-P-dolichol utilization defect 1 protein isoform 2", "refseq_ac": [ { "id": "NP_001317002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317002", "type": "external" } ], "gene_names_uniprotkb": "MPDU1", "gene_names_refseq": "CDGIF; HBEBP2BPA; Lec35; MPDU1; My008; PP3958; PQLC5; SL15; SLC66A5", "protein_names_uniprotkb": "Mannose-P-dolichol utilization defect 1 protein; SL15; Suppressor of Lec15 and Lec35 glycosylation mutation homolog", "protein_names_refseq": "HBeAg-binding protein 2 binding protein A; mannose-P-dolichol utilization defect 1 protein isoform 2; mannose-P-dolichol utilization defect 1 protein; suppressor of Lec15 and Lec35 glycosylation mutation homolog", "tax_id": 9606, "disease": "congenital disorder of glycosylation If (Disease Ontology:DOID:0080558)", "pathway": " (hsa:9526); (R-HSA-446193); (R-HSA-4687000)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10359825;10704531;11179430;11237011;11278778;11733556;11733564;11807558;11983712;12030331;12200473;12684507;12872255;14709599;14973778;14973782;15148656;15235028;15710750;15840742;15945070;16007612;16100110;16859551;16878994;18313027;18597486;19282279;22742743;23481700;24714562;26992070;27862975;28218747;28228285;28514659;28832583;28834231;29242379;29314611;29331515;29393594;29437277;29557506;29671116;29769354;29786170;30315122;30410026;30573663;31530632;31844290;31848261;32157095;32161166;32357974;32502341;32897882;32938616;33043033;33592498;34357683;35051231;35083852;35251023;35580925;36010968;36215666;36241641;9451016;9597543;9653160", "class_list": "glycogene", "function": "Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors., [UniProtKB]; These experiments also confirmed that protein levels of CEACAM-1, which functions in cell adhesion, is dependent on LLO biosynthesis in vivo. Kato III cells and the MPDU1-rescued Kato IIIM cells therefore provide a novel model to examine the consequences of defective LLO biosynthesis both in vitro and in vivo., [RefSeq, PubMed]; This gene encodes an endoplasmic reticulum membrane protein that is required for utilization of the mannose donor mannose-P-dolichol in the synthesis of lipid-linked oligosaccharides and glycosylphosphatidylinositols. Mutations in this gene result in congenital disorder of glycosylation type If. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 281, "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": "B3KQP1;B4DT74;Q9BUU8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006488 dolichol-linked oligosaccharide biosynthetic process;GO:0006457 protein folding;GO:0009312 oligosaccharide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "O75352-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHC1-1", "uniprot_id": [ { "id": "MLH3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHC1", "type": "external" } ], "mass": 163711.0, "length": 1453, "protein_name": "DNA mismatch repair protein Mlh3", "gene_name": "MLH3", "organism": "Human", "refseq_name": "DNA mismatch repair protein Mlh3 isoform 1", "refseq_ac": [ { "id": "NP_001035197", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035197", "type": "external" } ], "gene_names_uniprotkb": "MLH3", "gene_names_refseq": "HNPCC7; MLH3", "protein_names_uniprotkb": "DNA mismatch repair protein Mlh3; MutL protein homolog 3", "protein_names_refseq": "DNA mismatch repair protein MLH3; DNA mismatch repair protein Mlh3 isoform 1", "tax_id": 9606, "disease": "hereditary nonpolyposis colorectal cancer type 7 (Disease Ontology:DOID:0070276); endometrial cancer (Disease Ontology:DOID:1380); Lynch syndrome (Disease Ontology:DOID:3883); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:27030); (R-HSA-912446)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10.1101/2023.09.13.557529;10029069;10438626;10562567;10615123;10728666;10734115;10928988;11237011;11292842;11317354;11586295;15164066;15193445;15304223;16123081;16292313;16322221;17541404;17965729;17977839;17981954;18256600;18535008;20044539;20044541;20062530;20603073;20818382;22645359;24759751;25505266;25880248;26154972;26992070;28904123;29437277;29608566;30429286;31844290;32157095;32265295;32357974;32938616;33392160;33453991;33517345;33633747;33912179;33936100;33981976;34933735;35051231;35494241;35580925;7596406;8929543;9008167;9311981;9450758;9781043;9826763", "class_list": "", "function": "A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia., [RefSeq, PubMed]; Exonic sequencing and MLH3 gene expression analysis of breast cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic evidence for the involvement of mismatch repair proteins, PMS2 and MLH3, in a late step of homologous recombination., [RefSeq, PubMed]; Probably involved in the repair of mismatches in DNA., [UniProtKB]; This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has 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": 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": 57, "reported_interactions": 0, "missing_score": 9718, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "P49751;Q56DK9;Q9P292;Q9UHC0", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0003696 satellite DNA binding;GO:0019237 centromeric DNA binding", "go_cellular_component": "GO:0005712 chiasma;GO:0005634 nucleus;GO:0001673 male germ cell nucleus;GO:0032300 mismatch repair complex;GO:0000795 synaptonemal complex", "go_biological_process": "GO:0006298 mismatch repair;GO:0007131 reciprocal meiotic recombination", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9UHC1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3V2-1", "uniprot_id": [ { "id": "MS4A5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3V2", "type": "external" } ], "mass": 22283.0, "length": 200, "protein_name": "Membrane-spanning 4-domains subfamily A member 5", "gene_name": "MS4A5", "organism": "Human", "refseq_name": "membrane-spanning 4-domains subfamily A member 5", "refseq_ac": [ { "id": "NP_076434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076434", "type": "external" } ], "gene_names_uniprotkb": "MS4A5; CD20L2; TETM4", "gene_names_refseq": "CD20-L2; CD20L2; MS4A5; TETM4", "protein_names_uniprotkb": "Membrane-spanning 4-domains subfamily A member 5; CD20 antigen-like 2; Testis-expressed transmembrane protein 4", "protein_names_refseq": "CD20 antigen-like 2; membrane-spanning 4-domains subfamily A member 5; testis-expressed transmembrane protein 4; testis-expressed transmembrane-4 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:64232)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11162526;11237011;11245982;11401424;16959974;20237496", "class_list": "", "function": "May be involved in signal transduction as a component of a multimeric receptor complex., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. Though this member is not expressed in hematopoietic cells specifically, it may be involved in signal transduction like many of its related family members. The gene encoding this protein is localized to 11q12, among a cluster of family members. [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": "Q9BZH1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9H3V2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N635-1", "uniprot_id": [ { "id": "MEIOB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N635", "type": "external" } ], "mass": 49313.0, "length": 442, "protein_name": "Meiosis-specific with OB domain-containing protein", "gene_name": "MEIOB", "organism": "Human", "refseq_name": "meiosis-specific with OB domain-containing protein isoform 1", "refseq_ac": [ { "id": "NP_001157032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157032", "type": "external" } ], "gene_names_uniprotkb": "MEIOB; C16orf73", "gene_names_refseq": "C16orf73; MEIOB; POF23; SPGF22; gs129", "protein_names_uniprotkb": "Meiosis-specific with OB domain-containing protein; 3.1.-.-", "protein_names_refseq": "meiosis specific with OB domains; meiosis-specific with OB domain-containing protein isoform 1; meiosis-specific with OB domain-containing protein", "tax_id": 9606, "disease": "spermatogenic failure 22 (Disease Ontology:DOID:0070177); primary ovarian insufficiency (Disease Ontology:DOID:5426); premature ovarian failure 23 (MONDO:MONDO:0958035)", "pathway": " (hsa:254528)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11237011;22898188;24068956;24240703;26992070;28206990;31000419;32387766;32741963;33592498;33812231;34392356;34509645;35051231;35991565;36215666;36331299;37715646;38253038", "class_list": "", "function": "MEIOB interacts with RPA and SPATA22., [RefSeq, PubMed]; Nuclear localization of human MEIOB requires its NLS in the OB domain and interaction with SPATA22., [RefSeq, PubMed]; Single-stranded DNA-binding protein required for homologous recombination in meiosis I. Required for double strand breaks (DSBs) repair and crossover formation and promotion of faithful and complete synapsis. Not required for the initial loading of recombinases but required to maintain a proper number of RAD51 and DMC1 foci after the zygotene stage. May act by ensuring the stabilization of recombinases, which is required for successful homology search and meiotic recombination. Displays Single-stranded DNA 3'-5' exonuclease activity in vitro., [UniProtKB, UniProtKB]; The meiosis-specific MEIOB-SPATA22 complex cooperates with RPA to form a compacted mixed MEIOB/SPATA22/RPA/ssDNA complex., [RefSeq, PubMed]; We propose that RPA and this new single-strand DNA binding protein MEIOB, are essential to ensure the proper stabilization of recombinases which is required for successful homology search and meiotic recombination., [RefSeq, PubMed]; Whole-exome sequencing of consanguineous families with infertile men and women identifies homologous mutations in SPATA22 and MEIOB., [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": 12, "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": "B1AK39;C9J0S1;Q96RY0", "ec_number_list": [], "go_molecular_function": "GO:0008310 single-stranded DNA 3'-5' DNA exonuclease activity;GO:0003682 chromatin binding;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005694 chromosome", "go_biological_process": "GO:0000712 resolution of meiotic recombination intermediates;GO:0007144 female meiosis I;GO:0009566 fertilization;GO:0007140 male meiotic nuclear division;GO:0000724 double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8N635-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NUT3-1", "uniprot_id": [ { "id": "MFS12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NUT3", "type": "external" } ], "mass": 52075.0, "length": 480, "protein_name": "Major facilitator superfamily domain-containing protein 12", "gene_name": "MFSD12", "organism": "Human", "refseq_name": "major facilitator superfamily domain-containing protein 12 isoform d", "refseq_ac": [ { "id": "NP_001274458", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274458", "type": "external" } ], "gene_names_uniprotkb": "MFSD12; C19orf28", "gene_names_refseq": "C19orf28; MFSD12; PP3501; SLC59B1", "protein_names_uniprotkb": "Major facilitator superfamily domain-containing protein 12", "protein_names_refseq": "major facilitator superfamily domain-containing protein 12 isoform d; major facilitator superfamily domain-containing protein 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:126321)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "11237011;22441875;22869377;23481700;24714562;24715725;25576301;25645385;25732826;25892735;26154972;26728094;26992070;27600516;27846572;27862975;27920218;28832583;28904123;29242379;29314611;29393594;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30315122;30385854;30459171;30626607;30664655;31222486;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33208952;33298915;33691108;33717175;33912179;33936100;33968037;34171305;34211107;34357683;34509645;35051231;35154160;35318648;35705054;36010968;36215666;36241641;36581221;37751742;37938771;38687351", "class_list": "", "function": "Elevated MFSD12 expression promotes melanoma cell proliferation, and MFSD12 is a valuable prognostic biomarker and promising therapeutic target in melanoma., [RefSeq, PubMed]; MFSD12 mediates the import of cysteine into melanosomes and lysosomes., [RefSeq, PubMed]; Major Facilitator Superfamily Domain Containing 12 Is Overexpressed in Lung Cancer and Exhibits an Oncogenic Role in Lung Adenocarcinoma Cells., [RefSeq, PubMed]; Pp3501 inhibited the proliferation of SH-SY5Y cells, arrested the cell cycle at G1 phase, and sensitized the SH-SY5Y cells to sodium butyrate treatment., [RefSeq, PubMed]; Transporter that mediates the import of cysteine into melanosomes, thereby regulating skin pigmentation (PubMed:33208952, PubMed:37751742). In melanosomes, cysteine import is required both for normal levels of cystine, the oxidized dimer of cysteine, and provide cysteine for the production of the cysteinyldopas used in pheomelanin synthesis, thereby regulating skin pigmentation (PubMed:33208952). Also catalyzes import of cysteine into lysosomes in non-pigmented cells, regulating lysosomal cystine and cysteine storage, which is essential for redox homeostasis (PubMed:33208952, PubMed:37751742)., [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": 7, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MXP7;D6W615;E9PAJ8;Q8N459", "ec_number_list": [], "go_molecular_function": "GO:0015293 symporter activity;GO:0033229 cysteine transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0042470 melanosome;GO:0005770 late endosome", "go_biological_process": "GO:0048022 negative regulation of melanin biosynthetic process;GO:0008643 carbohydrate transport;GO:0042438 melanin biosynthetic process;GO:1903712 cysteine transmembrane transport;GO:0048021 regulation of melanin biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q6NUT3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UK61-1", "uniprot_id": [ { "id": "TASOR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UK61", "type": "external" } ], "mass": 189032.0, "length": 1670, "protein_name": "Protein TASOR", "gene_name": "TASOR", "organism": "Human", "refseq_name": "protein TASOR isoform a", "refseq_ac": [ { "id": "NP_001106207", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001106207", "type": "external" } ], "gene_names_uniprotkb": "TASOR; C3orf63; FAM208A; KIAA1105", "gene_names_refseq": "C3orf63; FAM208A; RAP140; TASOR1; TASOR; se89-1", "protein_names_uniprotkb": "Protein TASOR; CTCL tumor antigen se89-1; Retinoblastoma-associated protein RAP140; Transgene activation suppressor protein", "protein_names_refseq": "CTCL tumor antigen se89-1; family with sequence similarity 208 member A; protein FAM208A; protein TASOR isoform a; protein TASOR; retinoblastoma-associated protein 140; retinoblastoma-associated protein RAP140; transgene activation suppressor protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:23272); (R-HSA-9843970)", "pathway_count": 2, "publication_count": 124, "publication_id_list": "11149944;11237011;16964243;17081983;18691976;18726359;19690332;20068230;20068231;20871592;21406692;22022377;22544926;22658674;23186163;23481700;24275569;24715725;25418920;25505266;25576301;25645385;25880248;25892735;26022416;26154972;26375851;26992070;27600516;27732843;27846572;27862975;27920218;28218747;28228285;28581500;28649982;28832583;28834231;28904123;29211708;29237092;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632711;29728366;29769354;29786170;29891865;30059200;30297740;30315122;30410026;30429286;30484775;30487602;30524438;30620550;31217245;31492838;31844290;32119511;32157095;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32976585;32983136;33009411;33123756;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34509645;34561969;34846842;34932366;35013187;35051231;35132862;35254053;35289036;35318648;35513511;35561310;35580925;36010968;36215666;36241641;36284347;36309692;36581221;37433650;37541260;37938771;39013473;39302247;39489739;39531497;39534244;39589886", "class_list": "", "function": "Core component of the HUSH complex, a multiprotein complex that specifically mediates epigenetic repression of mobile genetic elements, such as retroviruses and transposable elements (PubMed:26022416, PubMed:28581500, PubMed:29211708, PubMed:32976585, PubMed:33009411, PubMed:37433650). The HUSH complex represses LINE-1 (L1) retrotransposons that are still capable of transposition (PubMed:29211708, PubMed:32976585). Silencing events often occur within introns of transcriptionally active genes, and lead to the down-regulation of host gene expression (PubMed:29211708). The HUSH complex also represses exogenous retroviruses and synthetic transgenes (PubMed:26022416). The HUSH complex also represses expression of latent herpes simplex virus (PubMed:39589886). Mediates silencing of unintegrated retroviral DNA following recruitment by ZNF638: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed (PubMed:30487602). The HUSH complex is recruited to genomic loci rich in H3K9me3 and is required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3, as well as MORC2, a chromatin remodeler that compacts chromatin (PubMed:26022416, PubMed:28581500). Within the HUSH complex, TASOR acts as the central scaffold which recruits MPHOSPH8 and PPHLN1 to mobile genetic elements and mediates association with SETDB1 and MORC2 (PubMed:32976585, PubMed:33009411, PubMed:39589886). The ability to silence mobile genetic elements plays a crucial role in early embryonic development: it is required to maintain epiblast cell fitness and cell division (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; HUSH-mediated HIV silencing is independent of TASOR phosphorylation on threonine 819. Publication Status: Online-Only, [RefSeq, PubMed]; TASOR epigenetic repressor cooperates with a CNOT1 RNA degradation pathway to repress HIV. Publication Status: Online-Only, [RefSeq, PubMed]; TASOR is a pseudo-PARP that directs HUSH complex assembly and epigenetic transposon control. 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": 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": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "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": "A1L3A4;B5ME28;Q9H2F7;Q9UPP7", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003723 RNA binding;GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000792 heterochromatin;GO:0140283 HUSH complex", "go_biological_process": "GO:0060809 mesodermal to mesenchymal transition involved in gastrulation;GO:0006351 DNA-templated transcription;GO:0045814 negative regulation of gene expression, epigenetic;GO:0008595 anterior/posterior axis specification, embryo;GO:0097355 protein localization to heterochromatin", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q9UK61-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95178-1", "uniprot_id": [ { "id": "NDUB2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95178", "type": "external" } ], "mass": 12058.0, "length": 105, "protein_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial", "gene_name": "NDUFB2", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial precursor", "refseq_ac": [ { "id": "NP_004537", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004537", "type": "external" } ], "gene_names_uniprotkb": "NDUFB2", "gene_names_refseq": "AGGG; CI-AGGG; NDUFB2", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial; CI-AGGG; Complex I-AGGG; NADH-ubiquinone oxidoreductase AGGG subunit", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa; NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial precursor; NADH-ubiquinone oxidoreductase AGGG subunit; complex I AGGG subunit; complex I-AGGG", "tax_id": 9606, "disease": "", "pathway": " (hsa:4708); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 3, "publication_count": 55, "publication_id_list": "10327278;11220739;11237011;11695836;12231006;12611891;12837546;1327877;14718445;14741580;15250827;16230336;17033964;17936786;186667;19064571;19752196;19892738;20406883;20552642;20858599;21924235;23150584;23270816;23553477;23564345;23747254;239860;24191001;25564869;25678554;26992070;27499296;27626371;28218747;28514659;28904123;29437277;29632046;30315122;31217245;31666358;31844290;31866046;32320651;33879611;33882309;33912179;35333655;35614220;38181234;38199007;4288886;9571201;9878551", "class_list": "", "function": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Association of abnormal NDUFB2 and UQCRH expression with venous thromboembolism in patients with liver cirrhosis., [RefSeq, PubMed]; NADH:ubiquinone oxidoreductase gene may have a role in the regulation of molecular changes during the global cardiac ischemia/reperfusion injury during CPB, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found within the hydrophobic protein (HP) fraction of complex I. [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": "Q6FGI6", "ec_number_list": [], "go_molecular_function": "GO:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration;GO:0022904 respiratory electron transport chain", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "O95178-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95182-1", "uniprot_id": [ { "id": "NDUA7_HUMAN", "url": "https://www.uniprot.org/uniprot/O95182", "type": "external" } ], "mass": 12551.0, "length": 113, "protein_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7", "gene_name": "NDUFA7", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7", "refseq_ac": [ { "id": "NP_004992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004992", "type": "external" } ], "gene_names_uniprotkb": "NDUFA7", "gene_names_refseq": "B14.5a; CI-B14.5a; NDUFA7", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7; CI-B14.5a; Complex I-B14.5a; NADH-ubiquinone oxidoreductase subunit B14.5a", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7; NADH-ubiquinone oxidoreductase subunit B14.5a; complex I B14.5a subunit", "tax_id": 9606, "disease": "hypertrophic cardiomyopathy (Disease Ontology:DOID:11984)", "pathway": " (hsa:4701); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 3, "publication_count": 49, "publication_id_list": "10327278;11220739;11237011;11695836;12231006;12611891;12837546;1327877;14741580;15250827;16230336;17033964;17936786;186667;18691976;19752196;20406883;20552642;20858599;21924235;23150584;23270816;23553477;23564345;23747254;239860;24191001;24275569;25564869;25678554;27499296;27626371;28904123;31666358;31844290;31866046;32265295;32320651;33879611;33882309;34357683;35051231;35333655;35614220;36241641;38199007;4288886;9571201;9878551", "class_list": "", "function": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a subunit of NADH:ubiquinone oxidoreductase (complex I), which is a multiprotein complex located in the inner mitochondrial membrane. Complex I functions in the transfer of electrons from NADH to the respiratory chain. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration;GO:0042773 ATP synthesis coupled electron transport", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "O95182-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96F44-1", "uniprot_id": [ { "id": "TRI11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96F44", "type": "external" } ], "mass": 52774.0, "length": 468, "protein_name": "E3 ubiquitin-protein ligase TRIM11", "gene_name": "TRIM11", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase TRIM11", "refseq_ac": [ { "id": "NP_660215", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660215", "type": "external" } ], "gene_names_uniprotkb": "TRIM11; RNF92", "gene_names_refseq": "BIA1; RNF92; TRIM11", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase TRIM11; 2.3.2.27; Protein BIA1; RING finger protein 92; Tripartite motif-containing protein 11", "protein_names_refseq": "E3 ubiquitin-protein ligase TRIM11; RING finger protein 92; RING-type E3 ubiquitin transferase TRIM11; tripartite motif-containing protein 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:81559); (R-HSA-983168)", "pathway_count": 2, "publication_count": 94, "publication_id_list": "11062501;11237011;11331580;11350924;12646216;14734113;15224091;15224092;15571818;16098226;16595681;16849449;16904669;16954532;18248090;18662542;19028597;19352404;19452197;19489725;19851334;19874575;19940261;2261476;23481700;24275569;24366607;24714562;24715725;25418920;25576301;25645385;25880248;26154972;26992070;27498865;27600516;27846572;27893789;27920218;28063628;28228285;28832583;28834231;28855257;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30779550;30833945;31154438;31530632;31844290;31848261;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33936100;33968037;33981976;34171305;34509645;34561969;34932366;35051231;35580925;36010968;36241641;36284347;37248611;37499037;37604203;37804507;38780271;9380723;9668046", "class_list": "", "function": "Downregulation of TRIM11 and TRIM15 enhanced virus release suggesting that these proteins contribute to the endogenous restriction of retroviruses in cells., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that promotes the degradation of insoluble ubiquitinated proteins, including insoluble PAX6, poly-Gln repeat expanded HTT and poly-Ala repeat expanded ARX (By similarity). Mediates PAX6 ubiquitination leading to proteasomal degradation, thereby modulating cortical neurogenesis (By similarity). May also inhibit PAX6 transcriptional activity, possibly in part by preventing the binding of PAX6 to its consensus sequences (By similarity). May contribute to the regulation of the intracellular level of HN (humanin) or HN-containing proteins through the proteasomal degradation pathway (By similarity). Mediates MED15 ubiquitination leading to proteasomal degradation (PubMed:16904669). May contribute to the innate restriction of retroviruses (PubMed:18248090). Upon overexpression, reduces HIV-1 and murine leukemia virus infectivity, by suppressing viral gene expression (PubMed:18248090). Antiviral activity depends on a functional E3 ubiquitin-protein ligase domain (PubMed:18248090). May regulate TRIM5 turnover via the proteasome pathway, thus counteracting the TRIM5-mediated cross-species restriction of retroviral infection at early stages of the retroviral life cycle (PubMed:18248090). Acts as an inhibitor of the AIM2 inflammasome by promoting autophagy-dependent degradation of AIM2 (PubMed:27498865). Mechanistically, undergoes autoubiquitination upon DNA stimulation, promoting interaction with AIM2 and SQSTM1/p62, leading to AIM2 recruitment to autophagosomes (PubMed:27498865)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; PAX6 interacts with HOMER3, DNCL1, and TRIM11. Three C-terminal PAX6 mutations, previously identified in patients with eye malformations, all reduced or abolished the interactions. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM11 Posttranscriptionally Modulated by miR-5193 Facilitates Tumor Growth and Metastasis of Prostate Cancer., [RefSeq, PubMed]; TRIM11 attenuates Treg cell differentiation by p62-selective autophagic degradation of AIM2., [RefSeq, PubMed]; TRIM11 promotes cell proliferation of non-small cell lung cancer through the inhibition of ferroptosis by AMPK., [RefSeq, PubMed]; TRIM11 protects against tauopathies and is down-regulated in Alzheimer's disease., [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. This protein localizes to the nucleus and the cytoplasm. Its function has not been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; These results suggest that TRIM11, with the ubiquitin-proteasome pathway, regulates ARC105 function in TGFbeta signaling., [RefSeq, PubMed]; Tripartite Motif-containing Protein 11 Silencing Inhibits Proliferation and Glycolysis and Promotes Apoptosis of Esophageal Squamous Cell Carcinoma Cells by Inactivating Signal Transduction and Activation of Transcription Factor 3/c-Myc Signaling., [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": 5, "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": "A6NKE2;B2RB82;B3KUS3;B4DX88;Q5VSU1;Q8NCA6;Q9C022", "ec_number_list": [ { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.31", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "2.3.2.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.34", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019904 protein domain specific binding;GO:0030674 protein-macromolecule adaptor activity;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0032897 negative regulation of viral transcription;GO:0044790 suppression of viral release by host;GO:0045087 innate immune response;GO:0045892 negative regulation of DNA-templated transcription;GO:0046598 positive regulation of viral entry into host cell", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "Q96F44-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43676-1", "uniprot_id": [ { "id": "NDUB3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43676", "type": "external" } ], "mass": 11402.0, "length": 98, "protein_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3", "gene_name": "NDUFB3", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3", "refseq_ac": [ { "id": "NP_001244031", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244031", "type": "external" } ], "gene_names_uniprotkb": "NDUFB3", "gene_names_refseq": "B12; CI-B12; MC1DN25; NDUFB3", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3; CI-B12; Complex I-B12; NADH-ubiquinone oxidoreductase B12 subunit", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa; NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3; NADH-ubiquinone oxidoreductase B12 subunit; complex I-B12", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 25 (Disease Ontology:DOID:0112067); Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:4709); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 3, "publication_count": 106, "publication_id_list": "10327278;11220739;11237011;11695836;12231006;12611891;12837546;1327877;14741580;15250827;16230336;17033964;17936786;186667;19752196;20406883;20552642;20858599;21924235;22277967;22499348;23150584;23270816;23481700;23553477;23564345;23747254;239860;24191001;25418920;25502872;25564869;25576301;25678554;25892735;26154972;26375851;26811146;26929215;26992070;27091925;27499296;27626371;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30192525;30315122;30429286;30779550;31154438;31217245;31666358;31844290;31848261;31866046;31998317;32157095;32161166;32265295;32320651;32350084;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33563959;33592498;33691108;33879611;33882309;33912179;33936100;33968037;34185709;34357683;35251023;35333655;35580925;35614220;36010968;36284347;38199007;4288886;9425316;9571201;9878551", "class_list": "", "function": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Recessive mutations in NDUFB3 cause complex I deficiency, [RefSeq, PubMed]; This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "Q6IB80", "ec_number_list": [], "go_molecular_function": "GO:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration;GO:0022904 respiratory electron transport chain", "synthesized_glycan_count": 0, "hit_score": 10.7, "record_id": "O43676-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43181-1", "uniprot_id": [ { "id": "NDUS4_HUMAN", "url": "https://www.uniprot.org/uniprot/O43181", "type": "external" } ], "mass": 20108.0, "length": 175, "protein_name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial", "gene_name": "NDUFS4", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_002486", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002486", "type": "external" } ], "gene_names_uniprotkb": "NDUFS4", "gene_names_refseq": "AQDQ; CI-18 kDa; CI-18; CI-AQDQ; MC1DN1; NDUFS4", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial; CI-18 kDa; CI-AQDQ; Complex I-18 kDa; Complex I-AQDQ; NADH-ubiquinone oxidoreductase 18 kDa subunit", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase); NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial isoform 1 precursor; NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial; NADH-ubiquinone oxidoreductase 18 kDa subunit; complex I 18kDa subunit; complex I-AQDQ; mitochondrial respiratory chain complex I (18-KD subunit)", "tax_id": 9606, "disease": "mitochondrial complex I deficiency (Disease Ontology:DOID:0060536); nuclear type mitochondrial complex I deficiency (Disease Ontology:DOID:0112065); nuclear type mitochondrial complex I deficiency 1 (Disease Ontology:DOID:0112074); Leigh disease (Disease Ontology:DOID:3652); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:4724); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 3, "publication_count": 85, "publication_id_list": "10327278;10944442;11181577;11220739;11237011;11695836;12231006;12611891;12616398;12837546;1327877;14741580;15250827;15975579;16094384;16230336;17033964;17936786;186667;19107570;19364667;19752196;20068231;20406883;20433953;20552642;20858599;21924235;22645359;23150584;23270816;23553477;23564345;23747254;239860;24191001;25564869;25678554;26154972;26992070;27499296;27626371;27846572;28063628;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29437277;29557506;29632046;30315122;30410026;31206022;31217245;31666358;31844290;31848261;31866046;32157095;32320651;32335026;32938616;33093004;33141586;33633747;33879611;33882309;34185709;34509645;34849584;35051231;35333655;35614220;37938771;38199007;38266647;4288886;9463323;9571201;9878551", "class_list": "", "function": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle., [RefSeq, PubMed]; NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2., [RefSeq, PubMed]; Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention. Review article, [RefSeq, PubMed]; This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]; Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 1, "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": "Q9BS69", "ec_number_list": [], "go_molecular_function": "GO:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0007420 brain development;GO:0051591 response to cAMP;GO:0072593 reactive oxygen species metabolic process;GO:0001932 regulation of protein phosphorylation", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "O43181-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86U44-1", "uniprot_id": [ { "id": "MTA70_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86U44", "type": "external" } ], "mass": 64474.0, "length": 580, "protein_name": "N(6)-adenosine-methyltransferase catalytic subunit METTL3", "gene_name": "METTL3", "organism": "Human", "refseq_name": "N(6)-adenosine-methyltransferase catalytic subunit METTL3", "refseq_ac": [ { "id": "NP_062826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_062826", "type": "external" } ], "gene_names_uniprotkb": "METTL3; MTA70", "gene_names_refseq": "IME4; M6A; METTL3; MT-A70; Spo8; hMETTL3", "protein_names_uniprotkb": "N(6)-adenosine-methyltransferase catalytic subunit METTL3; 2.1.1.348; MT-A70; Methyltransferase-like protein 3; N(6)-adenosine-methyltransferase 70 kDa subunit; hMETTL3", "protein_names_refseq": "N(6)-adenosine-methyltransferase 70 kDa subunit; N(6)-adenosine-methyltransferase catalytic subunit METTL3; N6-adenosine-methyltransferase 70 kDa subunit; N6-adenosine-methyltransferase catalytic subunit; adoMet-binding subunit of the human mRNA (N6-adenosine)-methyltransferase; mRNA (2'-O-methyladenosine-N(6)-)-methyltransferase; mRNA m(6)A methyltransferase; methyltransferase like 3; methyltransferase-like protein 3", "tax_id": 9606, "disease": "infertility (Disease Ontology:DOID:5223)", "pathway": " (hsa:56339); (R-HSA-72203)", "pathway_count": 2, "publication_count": 115, "publication_id_list": "11237011;16964243;17322306;17525332;18669648;18767875;18991276;19664994;19664995;20068231;22575960;23186163;23481700;24284625;24316715;24407421;24714562;24981863;25418920;25505266;25576301;25645385;25719671;25799998;25880248;26154972;26321680;26458103;26593424;26728094;26811146;26992070;27117702;27281194;27373337;27543614;27600516;27602518;27627798;27846572;27920218;28063628;28228285;28297716;28510447;28637692;28832583;28834231;28904123;29242379;29348140;29393594;29493099;29506078;29507755;29557506;29632046;29632711;29786170;29789417;30315122;30428350;30429286;30559377;30779550;31154438;31217245;31844290;31848261;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33217317;33298915;33392160;33537174;33592498;33633747;33912179;33936100;33961823;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34509645;34932366;35051231;35154160;35580925;36010968;36215666;36241641;37938771;38253038;39278095;39278369;39327253;39407279;39416774;39531497;40651967;40914805;41018975;8352591;9409616", "class_list": "", "function": "A novel interaction between RNA m[6]A methyltransferase METTL3 and RREB1., [RefSeq, PubMed]; METTL3 Regulates the Translation of Oncogene Myc through m[6]A Modification and Promotes the Occurrence and Development of Cervical Cancer., [RefSeq, PubMed]; METTL3 mediates m6A modification of lncRNA CRNDE to promote ATG10 expression and improve brain ischemia/reperfusion injury through YTHDC1. Publication Status: Online-Only, [RefSeq, PubMed]; METTL3-driven m6A modification of lncRNA FAM230B suppresses ferroptosis by modulating miR-27a-5p/BTF3 axis in gastric cancer., [RefSeq, PubMed]; The METTL3-METTL14 heterodimer forms a N6-methyltransferase complex that methylates adenosine residues at the N(6) position of some RNAs and regulates various processes such as the circadian clock, differentiation of embryonic and hematopoietic stem cells, cortical neurogenesis, response to DNA damage, differentiation of T-cells and primary miRNA processing (PubMed:22575960, PubMed:24284625, PubMed:25719671, PubMed:25799998, PubMed:26321680, PubMed:26593424, PubMed:27281194, PubMed:27373337, PubMed:27627798, PubMed:28297716, PubMed:29348140, PubMed:29506078, PubMed:30428350, PubMed:9409616). In the heterodimer formed with METTL14, METTL3 constitutes the catalytic core (PubMed:27281194, PubMed:27373337, PubMed:27627798). N6-methyladenosine (m6A), which takes place at the 5'-[AG]GAC-3' consensus sites of some mRNAs, plays a role in mRNA stability, processing, translation efficiency and editing (PubMed:22575960, PubMed:24284625, PubMed:25719671, PubMed:25799998, PubMed:26321680, PubMed:26593424, PubMed:28297716, PubMed:9409616). M6A acts as a key regulator of mRNA stability: methylation is completed upon the release of mRNA into the nucleoplasm and promotes mRNA destabilization and degradation (PubMed:28637692). In embryonic stem cells (ESCs), m6A methylation of mRNAs encoding key naive pluripotency-promoting transcripts results in transcript destabilization, promoting differentiation of ESCs (By similarity). M6A regulates the length of the circadian clock: acts as an early pace-setter in the circadian loop by putting mRNA production on a fast-track for facilitating nuclear processing, thereby providing an early point of control in setting the dynamics of the feedback loop (By similarity). M6A also regulates circadian regulation of hepatic lipid metabolism (PubMed:30428350). M6A regulates spermatogonial differentiation and meiosis and is essential for male fertility and spermatogenesis (By similarity). Also required for oogenesis (By similarity). Involved in the response to DNA damage: in response to ultraviolet irradiation, METTL3 rapidly catalyzes the formation of m6A on poly(A) transcripts at DNA damage sites, leading to the recruitment of POLK to DNA damage sites (PubMed:28297716). M6A is also required for T-cell homeostasis and differentiation: m6A methylation of transcripts of SOCS family members (SOCS1, SOCS3 and CISH) in naive T-cells promotes mRNA destabilization and degradation, promoting T-cell differentiation (By similarity). Inhibits the type I interferon response by mediating m6A methylation of IFNB (PubMed:30559377). M6A also takes place in other RNA molecules, such as primary miRNA (pri-miRNAs) (PubMed:25799998). Mediates m6A methylation of Xist RNA, thereby participating in random X inactivation: m6A methylation of Xist leads to target YTHDC1 reader on Xist and promote transcription repression activity of Xist (PubMed:27602518). M6A also regulates cortical neurogenesis: m6A methylation of transcripts related to transcription factors, neural stem cells, the cell cycle and neuronal differentiation during brain development promotes their destabilization and decay, promoting differentiation of radial glial cells (By similarity). METTL3 mediates methylation of pri-miRNAs, marking them for recognition and processing by DGCR8 (PubMed:25799998). Acts as a positive regulator of mRNA translation independently of the methyltransferase activity: promotes translation by interacting with the translation initiation machinery in the cytoplasm (PubMed:27117702). Its overexpression in a number of cancer cells suggests that it may participate in cancer cell proliferation by promoting mRNA translation (PubMed:27117702). During human coronavirus SARS-CoV-2 infection, adds m6A modifications in SARS-CoV-2 RNA leading to decreased RIGI binding and subsequently dampening the sensing and activation of innate immune responses (PubMed:33961823)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The indispensability of methyltransferase-like 3 in the immune system: from maintaining homeostasis to driving function. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the 70 kDa subunit of MT-A which is part of N6-adenosine-methyltransferase. This enzyme is involved in the posttranscriptional methylation of internal adenosine residues in eukaryotic mRNAs, forming N6-methyladenosine. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 20, "reported_mutagensis": 25, "reported_glycation": 0, "reported_snv": 13, "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": "O14736;Q86V05;Q9HB32", "ec_number_list": [ { "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": "1.13.11.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.27", "type": "external" }, { "id": "2.1.1.348", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.348", "type": "external" }, { "id": "2.1.1.346", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.346", "type": "external" }, { "id": "2.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.9", "type": "external" } ], "go_molecular_function": "GO:0001734 mRNA m(6)A methyltransferase activity;GO:0003729 mRNA binding;GO:0046982 protein heterodimerization activity;GO:0008173 RNA methyltransferase activity;GO:1904047 S-adenosyl-L-methionine binding", "go_cellular_component": "GO:0036396 RNA N6-methyladenosine methyltransferase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0021861 forebrain radial glial cell differentiation;GO:1903679 positive regulation of cap-independent translational initiation;GO:0006397 mRNA processing;GO:0007283 spermatogenesis;GO:0016556 mRNA modification", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "Q86U44-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NW34-1", "uniprot_id": [ { "id": "RMP64_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NW34", "type": "external" } ], "mass": 64552.0, "length": 567, "protein_name": "Ribonuclease MRP subunit P64", "gene_name": "RMP64", "organism": "Human", "refseq_name": "ribonuclease MRP subunit P64 isoform d", "refseq_ac": [ { "id": "NP_001306038", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306038", "type": "external" } ], "gene_names_uniprotkb": "RMP64; C3orf17; NEPRO", "gene_names_refseq": "ANXD3; C3orf17; NEPRO; NET17; RMP64", "protein_names_uniprotkb": "Ribonuclease MRP subunit P64; Nucleolus and neural progenitor protein", "protein_names_refseq": "nucleolus and neural progenitor protein; protein nepro homolog; ribonuclease MRP subunit P64 isoform d", "tax_id": 9606, "disease": "anauxetic dysplasia 3 (Disease Ontology:DOID:0080963)", "pathway": " (hsa:25871)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15096576;16565220;17924679;18669648;18691976;19664995;20068231;23186163;26633546;26992070;27846572;27920218;28115465;28832583;28834231;28904123;29242379;29493099;29557506;29620724;29632046;31250547;31844290;31998317;32157095;32161166;32387766;32502341;32897882;32938616;32983136;33298915;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34509645;34932366;35051231;35580925;40413743", "class_list": "", "function": "Our report delineates the clinical and radiological characteristics of an emerging ribosomopathy caused by biallelic variants in NEPRO, [RefSeq, PubMed]; Specific component of the MRP ribonucleoprotein endoribonuclease, Rnase/Mrp complex, a ribonucleoprotein complex involved in pre-rRNA processing (PubMed:28115465, PubMed:40413743). May play a role in cortex development as part of the Notch signaling pathway. Downstream of Notch may repress the expression of proneural genes and inhibit neuronal differentiation thereby maintaining neural progenitors. May also play a role in preimplentation embryo development (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DN69;Q68DM6;Q9H7U0;Q9UFM4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0000172 ribonuclease MRP complex", "go_biological_process": "GO:0006396 RNA processing;GO:0045665 negative regulation of neuron differentiation;GO:0045747 positive regulation of Notch signaling pathway;GO:0006364 rRNA processing", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q6NW34-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBP5-1", "uniprot_id": [ { "id": "S67A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBP5", "type": "external" } ], "mass": 50619.0, "length": 474, "protein_name": "Solute carrier family 67 member A2", "gene_name": "SLC67A2", "organism": "Human", "refseq_name": "solute carrier family 67 member A2 isoform 2", "refseq_ac": [ { "id": "NP_001309009", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309009", "type": "external" } ], "gene_names_uniprotkb": "SLC67A2; MFSD9; PSEC0066", "gene_names_refseq": "MFSD9; SLC67A2", "protein_names_uniprotkb": "Solute carrier family 67 member A2; Major facilitator superfamily domain-containing protein 9", "protein_names_refseq": "major facilitator superfamily domain containing 9; major facilitator superfamily domain-containing protein 9; solute carrier family 67 member A2 isoform 2; solute carrier family 67 member A2", "tax_id": 9606, "disease": "", "pathway": " (hsa:84804)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;16303743;16959974;24715725;26992070;28228285;29049335;29242379;31844290;32157095;35051231;36581221;37340703", "class_list": "", "function": "Propose MFSD4A and MFSD9 to be novel transporters, belonging to disparate SLC families. Both proteins were located to neurons in mouse brain, and their mRNA expression levels were affected by the diet Erratum:[PLoS One. 2018 May 10;13(5):e0197417. doi: 10.1371/journal.pone.0197417. PMID: 29746586] 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": 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": "Q4ZG89;Q53TU0;Q96GQ4;Q9BRI8", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8NBP5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68DK7-1", "uniprot_id": [ { "id": "MSL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68DK7", "type": "external" } ], "mass": 67128.0, "length": 614, "protein_name": "Male-specific lethal 1 homolog", "gene_name": "MSL1", "organism": "Human", "refseq_name": "male-specific lethal 1 homolog isoform 1", "refseq_ac": [ { "id": "NP_001012241", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012241", "type": "external" } ], "gene_names_uniprotkb": "MSL1; MSL1L1", "gene_names_refseq": "MSL-1; MSL1", "protein_names_uniprotkb": "Male-specific lethal 1 homolog; MSL-1; MSL1-like 1; Male-specific lethal 1-like 1; Male-specific lethal-1 homolog 1", "protein_names_refseq": "MSL1-like 1; male specific lethal 1 homolog; male-specific lethal 1 homolog isoform 1; male-specific lethal 1-like 1; male-specific lethal-1 homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:339287); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10786633;10821277;11237011;15313887;15561718;16227571;16387653;16543150;18381289;18623064;18669648;19187765;19608861;19650074;20018852;20068231;21217699;21406692;21726816;22547026;23084835;23186163;24275569;26154972;28832583;29242379;29493099;30224647;30379171;30410026;30429286;30930284;32157095;32488085;32938616;33717175;33837287;33968037;34561969;34644577;35051231;35580925;40596516;9427644;9558366;9880483", "class_list": "", "function": "A multisubunit human histone acetylase complex that contains homologs of the Drosophila MSL proteins MOF, MSL1 (hampin A), MSL2, and MSL3 was described. This complex is responsible for histone H4 lysine-16 acetylation of all cellular chromosomes. Erratum:[Mol Cell Biol. 2006 Jan;26(1):387], [RefSeq, PubMed]; Non-catalytic component of the MSL histone acetyltransferase complex, a multiprotein complex that mediates the majority of histone H4 acetylation at 'Lys-16' (H4K16ac), an epigenetic mark that prevents chromatin compaction (PubMed:16227571, PubMed:16543150, PubMed:33837287). The MSL complex is required for chromosome stability and genome integrity by maintaining homeostatic levels of H4K16ac (PubMed:33837287). The MSL complex is also involved in gene dosage by promoting up-regulation of genes expressed by the X chromosome (By similarity). X up-regulation is required to compensate for autosomal biallelic expression (By similarity). The MSL complex also participates in gene dosage compensation by promoting expression of Tsix non-coding RNA (By similarity). Within the MSL complex, acts as a scaffold to tether MSL3 and KAT8 together for enzymatic activity regulation (PubMed:22547026). Greatly enhances MSL2 E3 ubiquitin ligase activity, promoting monoubiquitination of histone H2B at 'Lys-34' (H2BK34Ub) (PubMed:21726816, PubMed:30930284). This modification in turn stimulates histone H3 methylation at 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) and leads to gene activation, including that of HOXA9 and MEIS1 (PubMed:21726816)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Shift in MSL1 alternative polyadenylation in response to DNA damage protects cancer cells from chemotherapeutic agent-induced apoptosis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 6, "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": "Q0VF46;Q69Z03", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0072487 MSL complex", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0045893 positive regulation of DNA-templated transcription;GO:0006325 chromatin organization", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q68DK7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75414-1", "uniprot_id": [ { "id": "NDK6_HUMAN", "url": "https://www.uniprot.org/uniprot/O75414", "type": "external" } ], "mass": 21142.0, "length": 186, "protein_name": "Nucleoside diphosphate kinase 6, mitochondrial", "gene_name": "NME6", "organism": "Human", "refseq_name": "nucleoside diphosphate kinase 6, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001295355", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295355", "type": "external" } ], "gene_names_uniprotkb": "NME6", "gene_names_refseq": "IPIA-ALPHA; NDK 6; NDK6; NM23-H6; NME6", "protein_names_uniprotkb": "Nucleoside diphosphate kinase 6, mitochondrial; 2.7.4.6; IPIA-alpha; Inhibitor of p53-induced apoptosis-alpha; NDK6; NDP kinase 6; nm23-H6", "protein_names_refseq": "NDP kinase 6; inhibitor of p53-induced apoptosis-alpha; non-metastatic cells 6, protein expressed in (nucleoside-diphosphate kinase); nucleoside diphosphate kinase 6, mitochondrial isoform 2; nucleoside diphosphate kinase 6, mitochondrial; nucleoside diphosphate kinase 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:10201); (R-HSA-499943)", "pathway_count": 2, "publication_count": 80, "publication_id_list": "10215863;10453732;10618642;10716435;10799505;10884394;10899599;11237011;11277919;11278511;11517226;11796141;11912132;12972261;13211603;14729598;15630091;16179339;16373698;16756507;16820675;17320107;177353;17824959;18469;1851158;18635542;18997010;19176520;19220460;19766732;20877624;21080915;211388;211390;22847445;23416111;24714562;2542324;25576301;2656695;2668278;26728094;26992070;27600516;28218747;28510447;28514659;28832583;28834231;29242379;29557506;29632711;30833945;31844290;31848261;32157095;32350084;32488085;34171305;34357683;34561969;34789336;34932366;35051231;35580925;36010968;37439264;37770567;39273527;40615;5484814;6182143;6248551;7685356;7851394;8448179;8663313;9488696;9677297", "class_list": "", "function": "Catalytic subunit of a complex with RCC1L, which catalyzes the transfer of a gamma-phosphoryl group from a nucleoside triphosphate, mainly ATP, to a nucleoside diphosphate via a ping-pong mechanism involving the formation of a phosphohistidine intermediate (PubMed:10618642, PubMed:34789336, PubMed:37770567). Participates in the regulation of mitochondrial nucleotide levels, mitoribosome biogenesis, and mitochondrial RNA abundances (PubMed:10618642, PubMed:34789336, PubMed:37770567). Supplies pyrimidine ribonucleoside triphosphates (rNTPs) for mitochondrial transcription and is required for the maintenance of mitochondrial DNA (mtDNA) when the import of pyrimidine deoxyribonucleoside triphosphates (dNTPs) is limited from the cytosol is limited (PubMed:37439264). As a monomer, lacks nucleoside diphosphate kinase (NDPK) activity (PubMed:34789336)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Mitochondrial NME6 Influences Basic Cellular Processes in Tumor Cells In Vitro. Publication Status: Online-Only, [RefSeq, PubMed]; Nucleoside diphosphate (NDP) kinases (EC 2.7.4.6), such as NME6, are ubiquitous enzymes that catalyze transfer of gamma-phosphates, via a phosphohistidine intermediate, between nucleoside and dioxynucleoside tri- and diphosphates (Mehus et al., 1999 [PubMed 10453732]).[supplied by OMIM, Jul 2010]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A0A0C4DG91;B4DGW7;B4DM99;Q53HM5;Q96E73;Q9BQ63", "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:0005524 ATP binding;GO:0046872 metal ion binding;GO:0004550 nucleoside diphosphate kinase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0009117 nucleotide metabolic process;GO:0006915 apoptotic process;GO:0030308 negative regulation of cell growth;GO:0045839 negative regulation of mitotic nuclear division;GO:0006183 GTP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "O75414-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFP4-1", "uniprot_id": [ { "id": "MDGA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFP4", "type": "external" } ], "mass": 105790.0, "length": 955, "protein_name": "MAM domain-containing glycosylphosphatidylinositol anchor protein 1", "gene_name": "MDGA1", "organism": "Human", "refseq_name": "MAM domain-containing glycosylphosphatidylinositol anchor protein 1 preproprotein", "refseq_ac": [ { "id": "NP_705691", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_705691", "type": "external" } ], "gene_names_uniprotkb": "MDGA1; MAMDC3", "gene_names_refseq": "GPIM; MAMDC3; MDGA1", "protein_names_uniprotkb": "MAM domain-containing glycosylphosphatidylinositol anchor protein 1; GPI and MAM protein; GPIM; Glycosylphosphatidylinositol-MAM; MAM domain-containing protein 3", "protein_names_refseq": "GPI and MAM protein; MAM domain-containing glycosylphosphatidylinositol anchor protein 1 preproprotein; MAM domain-containing protein 3; glycosylphosphatidylinositol-MAM", "tax_id": 9606, "disease": "", "pathway": " (hsa:266727); (R-HSA-163125)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10.1101/2023.09.13.557529;11072085;11237011;12082541;15922729;16335952;18384059;21146959;23248271;24190977;2443973;27600516;27607563;28641112;29242379;29557506;30779550;31844290;31848261;32157095;32350084;32357974;32488085;32938616;32983136;33298915;33592498;3422494;34357683;35051231;35154160", "class_list": "", "function": "A novel human gene mapped to chromosome 6p21, encodes a putative glycosylphosphatidylinositol (GPI) anchored protein containing a MAM (meprin, A5 antigen, protein tyrosine phosphatase mu) domain. (GPIM), [RefSeq, PubMed]; MDGA1 is a new schizophrenia susceptibility gene, and altered neuronal migration is involved in SZ pathology. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; MDGA1, a novel glycosylphosphatidylinositol-anchored protein, is localized in lipid rafts., [RefSeq, PubMed]; MDGAs regulate the formation of neuroligin-neurexin trans-synaptic bridges by sterically blocking access of neurexins to neuroligins., [RefSeq, PubMed]; Required for radial migration of cortical neurons in the superficial layer of the neocortex (By similarity). Plays a role in the formation or maintenance of inhibitory synapses. May function by inhibiting the activity of NLGN2., [UniProtKB, PubMed]; Required for radial migration of cortical neurons in the superficial layer of the neocortex. Plays a role in the formation or maintenance of inhibitory synapses. May function by inhibiting the activity of NLGN2., [UniProtKB, UniProtKB]; The MDGA1 gene may confer risk to schizophrenia and bipolar disorder in Chinese Han population., [RefSeq, PubMed]; This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six Ig-like domains, a single fibronectin type III domain, a MAM domain and a C-terminal GPI-anchoring site. Studies in other mammals suggest this protein plays a role in cell adhesion, migration, and axon guidance and, in the developing brain, neuronal migration. In humans, this gene is associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2016]., [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": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A6NHG0;Q8NBE3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane", "go_biological_process": "GO:0007399 nervous system development;GO:0001764 neuron migration;GO:0007420 brain development;GO:0021527 spinal cord association neuron differentiation;GO:0099179 regulation of synaptic membrane adhesion", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q8NFP4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEY1-1", "uniprot_id": [ { "id": "NAV1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEY1", "type": "external" } ], "mass": 202472.0, "length": 1877, "protein_name": "Neuron navigator 1", "gene_name": "NAV1", "organism": "Human", "refseq_name": "neuron navigator 1 isoform 2", "refseq_ac": [ { "id": "NP_001161210", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161210", "type": "external" } ], "gene_names_uniprotkb": "NAV1; KIAA1151; KIAA1213; POMFIL3; STEERIN1", "gene_names_refseq": "NAV1; POMFIL3; STEERIN1; UNC53H1", "protein_names_uniprotkb": "Neuron navigator 1; Pore membrane and/or filament-interacting-like protein 3; Steerin-1; Unc-53 homolog 1; unc53H1", "protein_names_refseq": "neuron navigator 1 isoform 2; pore membrane and/or filament interacting like protein 3; unc-53 homolog 1", "tax_id": 9606, "disease": "cerebellar hypoplasia (Disease Ontology:DOID:0070338)", "pathway": " (hsa:89796)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "11237011;12062803;12079279;15158073;17081983;18669648;18767875;19007248;19369195;19413330;19415658;19651622;19664994;19691289;20068231;21406692;23186163;23481700;25576301;25645385;27600516;27846572;28411811;29237092;29393594;29557506;29786170;30059200;30379171;30524438;30779550;31154438;31492838;31844290;31848261;32157095;32161166;32502341;32897882;32938616;32938750;33141586;33298915;33592498;33936100;33968037;33981976;34171305;35051231;35254053;35318648;35580925;36010968;36241641;36284347;37938771;38172636;38339022;38665916;39302247;39531497", "class_list": "", "function": "Cloning of the gene neuron navigator-1 (NAV1), a human homolog of unc-53, a gene involved in axon guidance in Caenorhabditis elegans, [RefSeq, PubMed]; Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in neuronal migration., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Nav1.7 as a chondrocyte regulator and therapeutic target for osteoarthritis., [RefSeq, PubMed]; This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. The exact function of this gene is not known, but it is thought to play a role in in neuronal development and regeneration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 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": 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": 66, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 51, "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": "A8MS88;Q5SVH1;Q5SVH2;Q5SVH3;Q5SVH7;Q5VUY9;Q8IVL2;Q96II1;Q9H7V9;Q9H9S9;Q9H9T5;Q9UGI1;Q9ULK7;Q9ULR9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005874 microtubule;GO:0015630 microtubule cytoskeleton;GO:0043194 axon initial segment", "go_biological_process": "GO:0007399 nervous system development;GO:0001764 neuron migration;GO:0001578 microtubule bundle formation;GO:0022008 neurogenesis", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q8NEY1-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HB21-1", "uniprot_id": [ { "id": "PKHA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HB21", "type": "external" } ], "mass": 45553.0, "length": 404, "protein_name": "Pleckstrin homology domain-containing family A member 1", "gene_name": "PLEKHA1", "organism": "Human", "refseq_name": "pleckstrin homology domain-containing family A member 1 isoform 1", "refseq_ac": [ { "id": "NP_001001974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001974", "type": "external" } ], "gene_names_uniprotkb": "PLEKHA1; TAPP1", "gene_names_refseq": "PLEKHA1; TAPP1", "protein_names_uniprotkb": "Pleckstrin homology domain-containing family A member 1; PH domain-containing family A member 1; TAPP-1; Tandem PH domain-containing protein 1", "protein_names_refseq": "pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1; pleckstrin homology domain-containing family A member 1 isoform 1; tandem PH domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:59338); (R-HSA-1660499)", "pathway_count": 2, "publication_count": 113, "publication_id_list": "10194451;10224048;10555148;10559940;10593988;10753883;10805725;10822173;11001876;11084340;11237011;11279162;11302699;11349134;11513726;11604140;11676921;11733541;11802782;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12808147;12847086;14516276;14617813;14660569;15080793;15107860;15135396;15464023;15485858;15716355;15797027;15840652;16154996;16399794;16476736;16522682;16914545;16979564;17008356;17245604;17651088;18093523;18669648;18753295;19038970;19413330;19664994;19896968;20068231;20534812;21204784;22037487;22647598;23186163;23519112;23758345;25050486;25495341;25576301;26154972;26427389;27600516;28904123;29351928;29485866;29557506;29565837;29632711;30379171;30429286;31154438;31848261;32157095;32161166;32983136;33592498;33981976;35051231;35132862;35154160;35580925;36010968;36215666;36284347;39302247;7608176;7624799;8681945;8723348;8769125;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "Binds specifically to phosphatidylinositol 3,4-diphosphate (PtdIns3,4P2), but not to other phosphoinositides. May recruit other proteins to the plasma membrane., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms were not found to be associated with age-related macular degeneration in an Indian population., [RefSeq, PubMed]; Investigated the association of PLEKHA1 958A/G, polymorphisms with Age-Related Macular Degeneration (AMD) risk. PLEKHA1 958A/G polymorphism was associated with a decreased AMD risk (additive model: aOR=0.722, 95% CI=0.450-0.979, P=0.019; allele model: aOR=0.883, 95% CI=0.736-0.992, P=0.014) Publication Status: Online-Only, [RefSeq, PubMed]; Studies indicate that the high-risk allele of the 10q26 locus encompasses three genes, PLEKHA1, ARMS2, and HTRA1 with high linkage disequilibrium., [RefSeq, PubMed]; Syntrophins regulate the localization of TAPP1, which may be important for remodeling the actin cytoskeleton in response to growth factor stimulation, [RefSeq, PubMed]; TAPP1 binds to protein tyrosine phosphatase PTPL1., [RefSeq, PubMed]; This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[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": 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": 4, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 17, "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": "B3KQ55;D3DRE2;Q9BVK0", "ec_number_list": [], "go_molecular_function": "GO:1902936 phosphatidylinositol bisphosphate binding;GO:0005543 phospholipid binding;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding;GO:0030165 PDZ domain binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0045184 establishment of protein localization;GO:0050853 B cell receptor signaling pathway;GO:0070301 cellular response to hydrogen peroxide;GO:0006661 phosphatidylinositol biosynthetic process;GO:0031529 ruffle organization", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "Q9HB21-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95169-1", "uniprot_id": [ { "id": "NDUB8_HUMAN", "url": "https://www.uniprot.org/uniprot/O95169", "type": "external" } ], "mass": 21766.0, "length": 186, "protein_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial", "gene_name": "NDUFB8", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001271296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271296", "type": "external" } ], "gene_names_uniprotkb": "NDUFB8", "gene_names_refseq": "ASHI; CI-ASHI; MC1DN32; NDUFB8", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial; CI-ASHI; Complex I-ASHI; NADH-ubiquinone oxidoreductase ASHI subunit", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa; NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial isoform 2; NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial; NADH:ubiquinone oxidoreductase ASHI subunit; complex I ASHI subunit; complex I-ASHI", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 32 (Disease Ontology:DOID:0112080); Alzheimer's disease (Disease Ontology:DOID:10652); Parkinson's disease (Disease Ontology:DOID:14330); acute kidney failure (Disease Ontology:DOID:3021)", "pathway": " (hsa:4714); (R-HSA-1268020); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 4, "publication_count": 106, "publication_id_list": "10327278;10570959;11220739;11230166;11237011;11695836;12231006;12611891;12837546;1327877;14726512;14741580;15250827;15254020;15644312;15683237;16115862;16185709;16230336;16849325;17033964;17510655;17936786;18174896;186667;18678864;19409522;19453276;19752196;19767391;19962426;20406883;20552642;20593814;20858599;21750375;21924235;23041349;23150584;23270816;23553477;23564345;23597483;23747254;23811401;239860;24191001;24715725;25315652;25418920;25564869;25678554;25892735;26697887;26929215;26992070;27499296;27626371;27726376;28218747;28228285;28510447;28832583;29142257;29242379;29429571;29437277;29493099;29557506;29769354;29786170;30315122;30379171;30429286;30833945;31222486;31611695;31666358;31844290;31848261;31866046;32157095;32320651;32357974;32897882;33298915;33592498;33879611;33882309;34078123;34171305;34357683;34561969;35051231;35154160;35318648;35333655;35561310;35614220;36010968;38199007;38665916;40596516;4288886;9571201;9878551", "class_list": "", "function": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone., [UniProtKB, PubMed, UniProtKB, UniProtKB]; NDUFB8 is a relevant gene in childhood-onset mitochondrial disease., [RefSeq, PubMed]; We observed loss of NDUFB8 immunoreactivity in all patients with mutations affecting nuclear-encoding structural subunits and assembly factors, whilst only 3 of the 10 patients with mutations affecting mtDNA-encoded structural subunits showed loss of NDUFB8, confirmed by BN-PAGE analysis of CI assembly and IHC using an alternative, commercially-available CI (NDUFS3) antibody. 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": 0, "reported_glycation": 0, "reported_snv": 7, "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": "A8K0L4;Q5W143;Q5W144;Q5W145;Q9UG53;Q9UJR4;Q9UQF3", "ec_number_list": [], "go_molecular_function": "GO:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "O95169-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15442-1", "uniprot_id": [ { "id": "MPPD1_HUMAN", "url": "https://www.uniprot.org/uniprot/O15442", "type": "external" } ], "mass": 37207.0, "length": 326, "protein_name": "Metallophosphoesterase domain-containing protein 1", "gene_name": "MPPED1", "organism": "Human", "refseq_name": "metallophosphoesterase domain-containing protein 1 precursor", "refseq_ac": [ { "id": "NP_001037835", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001037835", "type": "external" } ], "gene_names_uniprotkb": "MPPED1; C22orf1; FAM1A", "gene_names_refseq": "239AB; C22orf1; FAM1A; MPPED1", "protein_names_uniprotkb": "Metallophosphoesterase domain-containing protein 1; 239AB; 3.1.-.-; Adult brain protein 239", "protein_names_refseq": "adult brain protein 239; metallophosphoesterase domain-containing protein 1 precursor; metallophosphoesterase domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:758)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;18477386;23481700;30429286;9266672", "class_list": "", "function": "May have metallophosphoesterase activity (in vitro)., [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": "A8K159;B7Z2S9;Q8N361", "ec_number_list": [], "go_molecular_function": "GO:0004112 cyclic-nucleotide phosphodiesterase activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "O15442-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L592-1", "uniprot_id": [ { "id": "NDUF7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L592", "type": "external" } ], "mass": 49238.0, "length": 441, "protein_name": "Protein arginine methyltransferase NDUFAF7, mitochondrial", "gene_name": "NDUFAF7", "organism": "Human", "refseq_name": "protein arginine methyltransferase NDUFAF7, mitochondrial isoform 3", "refseq_ac": [ { "id": "NP_001077415", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001077415", "type": "external" } ], "gene_names_uniprotkb": "NDUFAF7; C2orf56; PRO1853", "gene_names_refseq": "C2orf56; MidA; NDUFAF7; PRO1853", "protein_names_uniprotkb": "Protein arginine methyltransferase NDUFAF7, mitochondrial; 2.1.1.320; NADH dehydrogenase [ubiquinone] complex I, assembly factor 7; Protein midA homolog", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 7; NADH dehydrogenase [ubiquinone] complex I, assembly factor 7; mitochondrial dysfunction protein A homolog; protein arginine methyltransferase NDUFAF7, mitochondrial isoform 3; protein arginine methyltransferase NDUFAF7, mitochondrial; protein midA homolog, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:55471); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "11220739;11237011;17936786;19752196;20406883;20552642;20858599;21924235;23553477;24089531;24191001;24838397;25418920;25678554;26992070;27499296;27626371;28218747;28228285;28837730;28904123;29242379;29437277;29557506;30315122;31666358;31844290;31866046;32157095;32320651;32357974;32983136;33298915;33879611;33882309;33912179;33936100;35051231;35333655;35614220;36241641;36284347;38199007;38253038;40596516;9571201", "class_list": "", "function": "A role for MidA in complex I assembly or stability, [RefSeq, PubMed]; Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; NDUFAF7 functions to methylate NDUFS2 after it assembles into a complex I, stabilizing an early intermediate in the assembly pathway, and that this function is essential for normal vertebrate development., [RefSeq, PubMed]; NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I., [RefSeq, PubMed]; This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]., [RefSeq]; We propose that the heterozygous mutation (c.798C>G) in NDUFAF7 may contribute to the pathogenesis of pathologic myopia, possibly by interfering with the phototransduction cascade. Mitochondrial dysfunction during eye development may lead to pathologic myopia., [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": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 11, "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": "Q7Z399;Q9P1G3", "ec_number_list": [ { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "2.1.1.320", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.320", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "1.3.8.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.7", "type": "external" }, { "id": "1.3.8.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.8", "type": "external" } ], "go_molecular_function": "GO:0019899 enzyme binding;GO:0008168 methyltransferase activity;GO:0035243 protein-arginine omega-N symmetric methyltransferase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0019918 peptidyl-arginine methylation, to symmetrical-dimethyl arginine;GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q7L592-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZVD8-1", "uniprot_id": [ { "id": "PHLP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZVD8", "type": "external" } ], "mass": 146751.0, "length": 1323, "protein_name": "PH domain leucine-rich repeat-containing protein phosphatase 2", "gene_name": "PHLPP2", "organism": "Human", "refseq_name": "PH domain leucine-rich repeat-containing protein phosphatase 2 isoform 2", "refseq_ac": [ { "id": "NP_001275932", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275932", "type": "external" } ], "gene_names_uniprotkb": "PHLPP2; KIAA0931; PHLPPL", "gene_names_refseq": "PHLPP2; PHLPPL; PPM3B", "protein_names_uniprotkb": "PH domain leucine-rich repeat-containing protein phosphatase 2; 3.1.3.16; PH domain leucine-rich repeat-containing protein phosphatase-like; PHLPP-like", "protein_names_refseq": "PH domain leucine-rich repeat-containing protein phosphatase 2 isoform 2; PH domain leucine-rich repeat-containing protein phosphatase 2; protein phosphatase, Mg2+/Mn2+ dependent 3B", "tax_id": 9606, "disease": "", "pathway": " (hsa:23035); (R-HSA-199418)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "11237011;11598301;12791994;15808505;17386267;18162466;19079341;19261608;19732725;20513427;21804599;21986499;23186163;23481700;24366607;24530606;24714562;24892992;25418920;25576301;25880248;25892735;26154972;27920218;28832583;28904123;29242379;29493099;29508533;29769354;30315122;30833945;31154438;31217245;31844290;31937595;32157095;32502341;32938616;32983136;33141586;33298915;33912179;33968037;33981976;34171305;34782741;34932366;35051231;35361144;35414774;36010968;36241641;36376971;37217939;38199981;38253038;38602289;40168118", "class_list": "", "function": "Bcr-Abl represses the expression of PHLPP1 and PHLPP2 and continuously activates Akt1, -2, and -3 via phosphorylation on Ser-473, resulting in the proliferation of CML cells, [RefSeq, PubMed]; MiR-509-3p is oncogenic, targets the tumor suppressor PHLPP2, and functions as a novel tumor adjacent normal tissue based prognostic biomarker in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Mutant p53 achieved Gain-of-Function by promoting tumor growth and immune escape through PHLPP2/AKT/PD-L1 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; PHLPP isoforms differentially regulate Akt isoforms and AS160 affecting neuronal insulin signaling and insulin resistance via Scribble. Publication Status: Online-Only, [RefSeq, PubMed]; Pleckstrin Homology Domain Leucine-rich Repeat Protein Phosphatase Acts as a Tumor Suppressor in Oral Squamous Cell Carcinoma., [RefSeq, PubMed]; Protein phosphatase involved in regulation of Akt and PKC signaling. Mediates dephosphorylation in the C-terminal domain hydrophobic motif of members of the AGC Ser/Thr protein kinase family; specifically acts on 'Ser-473' of AKT1, 'Ser-660' of PRKCB isoform beta-II and 'Ser-657' of PRKCA. Akt regulates the balance between cell survival and apoptosis through a cascade that primarily alters the function of transcription factors that regulate pro- and antiapoptotic genes. Dephosphorylation of 'Ser-473' of Akt triggers apoptosis and decreases cell proliferation. Also controls the phosphorylation of AKT3. Dephosphorylates STK4 on 'Thr-387' leading to STK4 activation and apoptosis (PubMed:20513427). Dephosphorylates RPS6KB1 and is involved in regulation of cap-dependent translation (PubMed:21986499). Inhibits cancer cell proliferation and may act as a tumor suppressor. Dephosphorylation of PRKCA and PRKCB leads to their destabilization and degradation. Dephosphorylates RAF1 inhibiting its kinase activity (PubMed:24530606)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; TRIM22 induces cellular senescence by targeting PHLPP2 in hepatocellular carcinoma. 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": 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": 5, "reported_glycation": 0, "reported_snv": 42, "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": "A1L374;Q9NV17;Q9Y2E3", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0045171 intercellular bridge;GO:0001917 photoreceptor inner segment", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0021766 hippocampus development", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q6ZVD8-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBH9-1", "uniprot_id": [ { "id": "MKNK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBH9", "type": "external" } ], "mass": 51875.0, "length": 465, "protein_name": "MAP kinase-interacting serine/threonine-protein kinase 2", "gene_name": "MKNK2", "organism": "Human", "refseq_name": "MAP kinase-interacting serine/threonine-protein kinase 2 isoform 1", "refseq_ac": [ { "id": "NP_060042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060042", "type": "external" } ], "gene_names_uniprotkb": "MKNK2; GPRK7; MNK2", "gene_names_refseq": "GPRK7; MKNK2; MNK2", "protein_names_uniprotkb": "MAP kinase-interacting serine/threonine-protein kinase 2; 2.7.11.1; MAP kinase signal-integrating kinase 2; MAPK signal-integrating kinase 2; Mnk2", "protein_names_refseq": "G protein-coupled receptor kinase 7; MAP kinase interacting serine/threonine kinase 2; MAP kinase signal-integrating kinase 2; MAP kinase-interacting serine/threonine-protein kinase 2 isoform 1; MAP kinase-interacting serine/threonine-protein kinase 2; MAPK signal-integrating kinase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:2872)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "11013076;11154262;11237011;11463832;12897141;16111636;16216586;16917500;17344846;17965020;18299328;18508592;18669648;18691976;19664994;20664001;20722422;20823271;20927323;21149447;23186163;23481700;24714562;25418920;25880248;25892735;26375851;26811146;26992070;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28855257;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29769354;29789417;30315122;30410026;30429286;30484775;30524438;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32265295;32357974;32488085;32502341;32938616;33141586;33602301;33717175;33836345;33912179;33936100;34561969;35051231;35494241;36215666;36241641;36764601;37217939;37938771;39110401", "class_list": "", "function": "MKNK2 enhances chemoresistance of ovarian cancer by suppressing autophagy via miR-125b., [RefSeq, PubMed]; MNK1 and MNK2 Expression in the Human Dorsal Root and Trigeminal Ganglion., [RefSeq, PubMed]; RBM25 depletion suppresses the growth of colon cancer cells through regulating alternative splicing of MNK2., [RefSeq, PubMed]; SRPK1/2 and PP1alpha exert opposite functions by modulating SRSF1-guided MKNK2 alternative splicing in colon adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase that phosphorylates SFPQ/PSF, HNRNPA1 and EIF4E. May play a role in the response to environmental stress and cytokines. Appears to regulate translation by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7-methylguanosine-containing mRNA cap. Required for mediating PP2A-inhibition-induced EIF4E phosphorylation. Triggers EIF4E shuttling from cytoplasm to nucleus. Isoform 1 displays a high basal kinase activity, but isoform 2 exhibits a very low kinase activity. Acts as a mediator of the suppressive effects of IFNgamma on hematopoiesis. Negative regulator for signals that control generation of arsenic trioxide As(2)O(3)-dependent apoptosis and anti-leukemic responses. Involved in anti-apoptotic signaling in response to serum withdrawal., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the calcium/calmodulin-dependent protein kinases (CAMK) Ser/Thr protein kinase family, which belongs to the protein kinase superfamily. This protein contains conserved DLG (asp-leu-gly) and ENIL (glu-asn-ile-leu) motifs, and an N-terminal polybasic region which binds importin A and the translation factor scaffold protein eukaryotic initiation factor 4G (eIF4G). This protein is one of the downstream kinases activated by mitogen-activated protein (MAP) kinases. It phosphorylates the eukaryotic initiation factor 4E (eIF4E), thus playing important roles in the initiation of mRNA translation, oncogenic transformation and malignant cell proliferation. In addition to eIF4E, this protein also interacts with von Hippel-Lindau tumor suppressor (VHL), ring-box 1 (Rbx1) and Cullin2 (Cul2), which are all components of the CBC(VHL) ubiquitin ligase E3 complex. Multiple alternatively spliced transcript variants have been found, but the full-length nature and biological activity of only two variants are determined. These two variants encode distinct isoforms which differ in activity and regulation, and in subcellular localization. [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": 17, "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": "Q6GPI3;Q9HBH8;Q9UHR0;Q9Y2N6", "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:0009931 calcium-dependent protein serine/threonine kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016604 nuclear body;GO:0016605 PML body", "go_biological_process": "GO:0006417 regulation of translation;GO:0006468 protein phosphorylation;GO:0007166 cell surface receptor signaling pathway;GO:0035556 intracellular signal transduction;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9HBH9-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7L590-1", "uniprot_id": [ { "id": "MCM10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7L590", "type": "external" } ], "mass": 98183.0, "length": 875, "protein_name": "Protein MCM10 homolog", "gene_name": "MCM10", "organism": "Human", "refseq_name": "protein MCM10 homolog isoform 2", "refseq_ac": [ { "id": "NP_060988", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060988", "type": "external" } ], "gene_names_uniprotkb": "MCM10; PRO2249", "gene_names_refseq": "CNA43; DNA43; IMD80; MCM10; PRO2249", "protein_names_uniprotkb": "Protein MCM10 homolog; HsMCM10", "protein_names_refseq": "MCM10 minichromosome maintenance deficient 10; homolog of yeast MCM10; hsMCM10; minichromosome maintenance complex component 10; protein MCM10 homolog isoform 2; protein MCM10 homolog", "tax_id": 9606, "disease": "immunodeficiency 80 (Disease Ontology:DOID:0061051)", "pathway": " (hsa:55388); (R-HSA-176187); (R-HSA-68962)", "pathway_count": 3, "publication_count": 134, "publication_id_list": "10051570;10373362;10373557;10518787;10523313;10757793;10777662;10827953;10846177;10859164;10882098;11095689;11125146;11230166;11237011;11390642;11602595;11864598;12045100;12399544;12578958;12676583;12676925;12759351;12791985;12963847;14500360;14603323;14605214;14624239;15136575;15190204;15226314;15707391;15743907;15833913;16327781;16407120;17525332;17699597;17761813;18452278;18480045;18669648;19608746;19690332;19696745;20068231;20112406;22424782;22544926;22645359;23481700;24366607;24714562;24715725;24726359;25218447;25231993;25418920;25645385;25892735;26154972;26375851;26811146;26992070;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29485866;29493099;29557506;29632046;29769354;29786170;30315122;30379171;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31937595;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32865517;32897882;32938616;33141586;33298915;33392160;33537174;33633747;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35394024;35561310;35813483;36241641;37848534;38262603;39894887;40596516;8196638;8943031;9278511;9278512;9660782", "class_list": "", "function": "A critical threshold of MCM10 is required to maintain genome stability during differentiation of induced pluripotent stem cells into natural killer cells., [RefSeq, PubMed]; Acts as a replication initiation factor that brings together the MCM2-7 helicase and the DNA polymerase alpha/primase complex in order to initiate DNA replication. Additionally, plays a role in preventing DNA damage during replication. Key effector of the RBBP6 and ZBTB38-mediated regulation of DNA-replication and common fragile sites stability; acts as a direct target of transcriptional repression by ZBTB38 (PubMed:24726359)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation., [RefSeq, PubMed]; Functional studies of the Xenopus homolog, [RefSeq, PubMed]; MCM10, a potential diagnostic, immunological, and prognostic biomarker in pan-cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Over-Activation of Minichromosome Maintenance Protein 10 Promotes Genomic Instability in Early Stages of Breast Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre-RC) and it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K9I6;B7ZKZ8;Q3MIR3;Q7LD55;Q96GX4;Q96NB6;Q9H0D7;Q9H3P9;Q9P177", "ec_number_list": [], "go_molecular_function": "GO:0003688 DNA replication origin binding;GO:0008270 zinc ion binding;GO:0019899 enzyme binding;GO:0042802 identical protein binding;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0043596 nuclear replication fork;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0006974 DNA damage response;GO:0006270 DNA replication initiation", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q7L590-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NWA0-1", "uniprot_id": [ { "id": "MED9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NWA0", "type": "external" } ], "mass": 16403.0, "length": 146, "protein_name": "Mediator of RNA polymerase II transcription subunit 9", "gene_name": "MED9", "organism": "Human", "refseq_name": "mediator of RNA polymerase II transcription subunit 9", "refseq_ac": [ { "id": "NP_060489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060489", "type": "external" } ], "gene_names_uniprotkb": "MED9; MED25", "gene_names_refseq": "MED25; MED9", "protein_names_uniprotkb": "Mediator of RNA polymerase II transcription subunit 9; Mediator complex subunit 9", "protein_names_refseq": "mediator of RNA polymerase II transcription subunit 9; mediator of RNA polymerase II transcription, subunit 9 homolog; mediator subunit 25", "tax_id": 9606, "disease": "", "pathway": " (hsa:55090); (R-HSA-1989781); (R-HSA-381340); (R-HSA-9833110)", "pathway_count": 4, "publication_count": 79, "publication_id_list": "10075656;10425206;10777541;11095972;11237011;11267664;11607032;11872672;12118000;12177166;12213831;12505311;12582161;12829629;14638676;14976261;15067378;15130092;15175163;15273253;15635043;15850785;15919796;15989967;16380219;16972786;17011499;17980149;18420935;18540824;18691976;18719978;18848529;18931025;19043829;19088433;19115207;19172745;19710929;19934321;20068231;20101261;20110263;20410276;22090124;23186163;23239344;23301498;24196956;25854864;26992070;28218747;29351928;29393594;30429286;31154438;31222486;31848261;32157095;32897882;33968037;36102648;36241641;38474301;39894887;40596516;7685352;7892212;8325954;8643605;8647822;8706692;8770873;8970730;9012850;9065481;9454824;9748239;9836620", "class_list": "", "function": "Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene-specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors., [UniProtKB]; Familial Dilated Cardiomyopathy: A Novel MED9 Short Isoform Identification. Publication Status: Online-Only, [RefSeq, PubMed]; The FLJ10193 protein, which we designate Med25, is a bona fide subunit of the mammalian Mediator complex, [RefSeq, PubMed]; The multiprotein Mediator complex is a coactivator required for activation of RNA polymerase II transcription by DNA bound transcription factors. The protein encoded by this gene is thought to be a subunit of the Mediator complex. This gene is located within the Smith-Magenis syndrome region 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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;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": 8.3, "record_id": "Q9NWA0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TGZ0-1", "uniprot_id": [ { "id": "MIC10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TGZ0", "type": "external" } ], "mass": 8808.0, "length": 78, "protein_name": "MICOS complex subunit MIC10", "gene_name": "MICOS10", "organism": "Human", "refseq_name": "MICOS complex subunit MIC10 isoform a", "refseq_ac": [ { "id": "NP_001027535", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027535", "type": "external" } ], "gene_names_uniprotkb": "MICOS10; C1orf151; MIC10; MINOS1", "gene_names_refseq": "C1orf151; MICOS10; MINOS1; MIO10; Mic10", "protein_names_uniprotkb": "MICOS complex subunit MIC10; Mitochondrial inner membrane organizing system protein 1", "protein_names_refseq": "MICOS complex subunit MIC10 isoform a; MICOS complex subunit MIC10; RP5-1056L3.2; UPF0327 protein C1orf151; mitochondrial inner membrane organizing system 1; mitochondrial inner membrane organizing system protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:440574); (R-HSA-8949613)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "11237011;17121862;17510655;17624330;18323778;20833715;20877624;21836051;22114354;22252321;22864911;23481700;24098383;24366607;24687277;24714562;24715725;25285856;25418920;25645385;25764979;25781180;25997101;26154972;26416881;26477565;26530328;26728094;26811146;26929215;26968360;26992070;27479602;27485409;27600516;27623147;27846572;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29508533;29557506;29632046;29786170;29789417;30315122;30410026;30429286;30524438;30833945;31154438;31217245;31222486;31530632;31644573;31844290;32157095;32350084;32387766;32488085;32502341;32567732;32788360;32897882;32938616;33130824;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34271005;34932366;35051231;35251023;35318648;35561310;35580925;36284347", "class_list": "", "function": "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., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Conserved GxxxG and WN motifs of MIC13 are essential for bridging two MICOS subcomplexes., [RefSeq, PubMed]; Multicolor 3D MINFLUX nanoscopy of mitochondrial MICOS proteins., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "Q96G68", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001401 SAM complex;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0044284 mitochondrial crista junction;GO:0061617 MICOS complex", "go_biological_process": "GO:0042407 cristae formation;GO:0007007 inner mitochondrial membrane organization", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q5TGZ0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZN04-1", "uniprot_id": [ { "id": "MEX3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZN04", "type": "external" } ], "mass": 58832.0, "length": 569, "protein_name": "RNA-binding protein MEX3B", "gene_name": "MEX3B", "organism": "Human", "refseq_name": "RNA-binding protein MEX3B", "refseq_ac": [ { "id": "NP_115622", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115622", "type": "external" } ], "gene_names_uniprotkb": "MEX3B; KIAA2009; RKHD3; RNF195", "gene_names_refseq": "MEX-3B; MEX3B; RKHD3; RNF195", "protein_names_uniprotkb": "RNA-binding protein MEX3B; RING finger and KH domain-containing protein 3; RING finger protein 195", "protein_names_refseq": "RING finger protein 195; RNA-binding protein MEX3B; ring finger and KH domain containing 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:84206)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "10.1101/2023.09.13.557529;11230166;17267406;18779327;23186163;25576301;26992070;28904123;29496759;29557506;29789417;30315122;30379171;30779550;31092671;31154438;31222486;31330219;31844290;31848261;32157095;32161166;32502341;32897882;32938616;32983136;33592498;33691108;33936100;33981976;35051231;35318648;36010968;36241641;36976645;38326406;38665916", "class_list": "", "function": "14-3-3 exerts combined effects on hMex-3B and acts as a major regulator of the sorting between distinct classes of RNA granules, [RefSeq, PubMed]; He suppressed IL-37 secretion caused by a type 2 milieu can enhance Mex3B-mediated TLR3 activation and subsequent TSLP production in nasal epithelial cells and therefore promotes eosinophilic inflammation in patients with eosinophilic chronic rhinosinusitis with nasal polyps., [RefSeq, PubMed]; MEX3B inhibits collagen production in eosinophilic nasal polyps by downregulating epithelial cell TGFBR3 mRNA stability. Publication Status: Online-Only, [RefSeq, PubMed]; MEX3B mediates resistance to cancer immunotherapy by binding to the 3' UTR of HLA-A to destabilize the HLA-A mRNA and thus downregulate HLA-A expression on the surface of tumor cells., [RefSeq, PubMed]; Molecular mechanism of specific HLA-A mRNA recognition by the RNA-binding-protein hMEX3B to promote tumor immune escape. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-binding protein. May be involved in post-transcriptional regulatory mechanisms., [UniProtKB]; This gene encodes an RNA-binding phosphoprotein that is part of the MEX3 (muscle excess 3) family of translational regulators. The encoded protein contains N-terminal nuclear export and nuclear localization signals and is exported from the cytoplasm to the nucleus. The protein binds to RNA via two KH domains and also colocalizes with MEX3A, Dcp1A decapping factor and Argonaute proteins within P (processing) bodies. [provided by RefSeq, Oct 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": 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": 1, "reported_glycation": 0, "reported_snv": 35, "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": "Q4G0W1;Q8IVG2;Q9H0J0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000932 P-body", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0046777 protein autophosphorylation", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q6ZN04-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q75NE6-1", "uniprot_id": [ { "id": "MIRH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q75NE6", "type": "external" } ], "mass": 8163.0, "length": 70, "protein_name": "Putative microRNA 17 host gene protein", "gene_name": "MIR17HG", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MIR17HG; C13orf25; MIRH1; MIRHG1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative microRNA 17 host gene protein; Putative microRNA host gene 1 protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "Feingold syndrome (Disease Ontology:DOID:0060464)", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "15126345;16266980;21892160", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4QMU7;Q75NE7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q75NE6-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XN8-1", "uniprot_id": [ { "id": "MEX3D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XN8", "type": "external" } ], "mass": 64883.0, "length": 651, "protein_name": "RNA-binding protein MEX3D", "gene_name": "MEX3D", "organism": "Human", "refseq_name": "RNA-binding protein MEX3D isoform 2", "refseq_ac": [ { "id": "NP_001167589", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167589", "type": "external" } ], "gene_names_uniprotkb": "MEX3D; KIAA2031; RKHD1; RNF193", "gene_names_refseq": "MEX-3D; MEX3D; MEX3; OK/SW-cl.4; RKHD1; RNF193; TINO", "protein_names_uniprotkb": "RNA-binding protein MEX3D; RING finger and KH domain-containing protein 1; RING finger protein 193; TINO", "protein_names_refseq": "RING finger and KH domain-containing protein 1; RING finger protein 193; RNA-binding protein MEX3D isoform 2; RNA-binding protein MEX3D; bcl-2 ARE RNA binding protein; ring finger (C3HC4 type) and KH domain containing 1; ring finger and KH domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:399664)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;14769789;17267406;19651622;23186163;28218747;28228285;28832583;29066822;29242379;29557506;30315122;30524438;30779550;31492838;31844290;32157095;32488085;32502341;32938616;33936100;33968037;33981976;34019948;34171305;34455614;35051231;36010968;36241641;38665916", "class_list": "", "function": "Dysregulated gene expressions of MEX3D, FOS and BCL2 in human induced-neuronal (iN) cells from NF1 patients Publication Status: Online-Only, [RefSeq, PubMed]; MEX3D is an oncogenic driver in prostate cancer., [RefSeq, PubMed]; RNA binding protein, may be involved in post-transcriptional regulatory mechanisms., [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": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0PJL8;A1L023;E9PAL6;Q71M49", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0035925 mRNA 3'-UTR AU-rich region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0048471 perinuclear region of cytoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0010609 mRNA localization resulting in post-transcriptional regulation of gene expression;GO:0061157 mRNA destabilization", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q86XN8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBR6-1", "uniprot_id": [ { "id": "MINY2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBR6", "type": "external" } ], "mass": 67106.0, "length": 621, "protein_name": "Ubiquitin carboxyl-terminal hydrolase MINDY-2", "gene_name": "MINDY2", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase MINDY-2 isoform a", "refseq_ac": [ { "id": "NP_001035540", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035540", "type": "external" } ], "gene_names_uniprotkb": "MINDY2; FAM63B; KIAA1164", "gene_names_refseq": "FAM63B; MINDY2", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase MINDY-2; 3.4.19.12; Deubiquitinating enzyme MINDY-2; Protein FAM63B", "protein_names_refseq": "MINDY deubiquitinase 2; deubiquitinating enzyme MINDY-2; family with sequence similarity 63 member B; protein FAM63B; ubiquitin carboxyl-terminal hydrolase MINDY-2 isoform a; ubiquitin carboxyl-terminal hydrolase MINDY-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54629)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;18669648;23186163;27175219;27292798;28082312;31530632;32387766;32938616;33592498;33912179;34509645;34529927;35051231;38151824", "class_list": "", "function": "Exosomal circFAM63Bsuppresses bone regeneration of postmenopausal osteoporosis via regulating miR-578/HMGA2 axis., [RefSeq, PubMed]; Hydrolase that can remove 'Lys-48'-linked conjugated ubiquitin from proteins (PubMed:27292798). Binds to polyubiquitin chains of different linkage types, including 'Lys-6', 'Lys-11', 'Lys-29', 'Lys-33', 'Lys-48' and 'Lys-63' (PubMed:28082312). May play a regulatory role at the level of protein turnover (PubMed:27292798)., [UniProtKB, PubMed, PubMed]; Hydrolase that can specifically remove 'Lys-48'-linked conjugated ubiquitin from proteins. Has exodeubiquitinase activity and has a preference for long polyubiquitin chains. May play a regulatory role at the level of protein turnover., [UniProtKB, UniProtKB, UniProtKB]; Mechanism of activation and regulation of deubiquitinase activity in MINDY1 and MINDY2., [RefSeq, PubMed]; Results identified FAM63B hypomethylation in bipolar disorder patients and data support that FAM63B is a shared epigenetic risk gene for bipolar disorder and schizophrenia. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2RTT8;Q9ULQ6", "ec_number_list": [], "go_molecular_function": "GO:0036435 K48-linked polyubiquitin modification-dependent protein binding;GO:0016807 cysteine-type carboxypeptidase activity;GO:0071795 K11-linked polyubiquitin modification-dependent protein binding;GO:0071796 K6-linked polyubiquitin modification-dependent protein binding;GO:0070530 K63-linked polyubiquitin modification-dependent protein binding", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8NBR6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AX9-1", "uniprot_id": [ { "id": "MIB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AX9", "type": "external" } ], "mass": 103658.0, "length": 955, "protein_name": "E3 ubiquitin-protein ligase MIB2", "gene_name": "MIB2", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase MIB2 isoform 5", "refseq_ac": [ { "id": "NP_001164160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164160", "type": "external" } ], "gene_names_uniprotkb": "MIB2; SKD; ZZANK1", "gene_names_refseq": "MIB2; ZZANK1; ZZZ5", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase MIB2; 2.3.2.27; Mind bomb homolog 2; Novel zinc finger protein; Novelzin; Putative NF-kappa-B-activating protein 002N; RING-type E3 ubiquitin transferase MIB2; Skeletrophin; Zinc finger ZZ type with ankyrin repeat domain protein 1", "protein_names_refseq": "E3 ubiquitin-protein ligase MIB2 isoform 5; E3 ubiquitin-protein ligase MIB2; RING-type E3 ubiquitin transferase MIB2; mind bomb homolog 2; mindbomb E3 ubiquitin protein ligase 2; mindbomb homolog 2; novel zinc finger protein; novelzin; putative NF-kappa-B-activating protein 002N; skeletrophin; zinc finger ZZ type with ankyrin repeat domain protein 1; zinc finger, ZZ type with ankyrin repeat domain 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:142678); (R-HSA-2122948); (R-HSA-2644606); (R-HSA-2691232); (R-HSA-2894862); (R-HSA-2979096); (R-HSA-5357786); (R-HSA-5357905); (R-HSA-9013507); (R-HSA-983168); (R-HSA-9931295)", "pathway_count": 11, "publication_count": 213, "publication_id_list": "10079256;10206645;10521396;10551863;10713164;10837247;10879540;10882063;10934472;10958687;10964718;11006133;11044625;11062501;11098060;11171333;11181075;11226752;11237011;11350924;11427719;11518718;11577081;11740940;11823422;11861489;12050117;12167698;12209127;12354787;12391150;12530964;12646216;12709429;12721308;12761501;12887920;12893276;14507647;14567914;14716293;14734113;14980219;15024054;15107403;15224091;15224092;15258597;15533827;15546612;15569487;15571818;15574878;15652348;15760269;15824097;15829515;15869411;15870263;15920166;15965470;16093323;16284625;16530044;16595681;16682944;16715130;16738328;16773578;16829951;16829952;16849449;16954532;17003037;17028573;17114293;17314102;17401372;17646408;17646409;17702576;18043734;18077452;18178551;18237417;18296446;18374649;1840698;18418349;18469519;18628966;18662542;18700817;18824583;18824585;19000840;19028597;19151708;19208840;19278658;19289468;19352404;19416807;19452197;19489725;19524514;19567869;19726682;19851334;19874575;19910467;19940261;20156974;20185725;20219915;20304918;20385093;20972443;21235526;21408173;21632553;22162134;22179575;22297296;22435550;2261476;22658935;22658936;22848449;23186163;23313255;23481700;23746843;24098568;24246475;24275569;24323043;24726323;24726327;24842903;25125655;25356737;25565632;25645385;26344099;26900751;26997266;27307491;27458237;27545878;27552911;27572267;27591049;27600516;27920218;28506461;28832583;28920952;28920954;29242379;29393594;29508533;29632046;29642005;29765039;29789417;29856954;29856955;30118680;30146158;30361438;30420664;30988283;31154438;31305264;31366726;31511692;3153318;31848261;32161166;32320653;33469115;34162724;34363755;34876703;34971948;35941131;36215666;36719382;37436668;37938771;7531702;7566092;7588063;7667287;803282;8313469;9049422;9065443;9207787;9207788;9244301;9315665;9380723;9384573;9462510;9590294;9604939;9620803;9651681;9668046;9694793;9819428", "class_list": "", "function": "E3 ubiquitin-protein ligase 2 inhibits cell proliferation, migration, and invasion of non-small cell lung cancer through ubiquitination of Notch1., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins. Positively regulates the Delta-mediated Notch signaling by ubiquitinating the intracellular domain of Delta, leading to endocytosis of Delta receptors., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; MIB2 promotes the progression of non-small cell lung cancer by regulating cell cycle control pathways., [RefSeq, PubMed]; MIB2 represses the cytotoxic potential of RIPK1 by ubiquitylating lysine residues in the C-terminal portion of RIPK1. Disruption of MIB2-mediated ubiquitylation, either by mutation of MIB2's E3 activity or RIPK1's ubiquitin-acceptor lysines, sensitizes cells to RIPK1-mediated cell death., [RefSeq, PubMed]; MIND bomb 2 prevents RIPK1 kinase activity-dependent and -independent apoptosis through ubiquitylation of cFLIPL. Publication Status: Online-Only, [RefSeq, PubMed]; Mib2 has functional similarities to Mib1, but might have distinct roles in Notch signaling as an E3 ubiquitin ligase, [RefSeq, PubMed]; Results suggest that MIB2 enhances NF-kappaB signaling in inflammation by promoting the ubiquitin-dependent degradation of CYLD., [RefSeq, PubMed]; Skeletrophin is a novel ubiquitin ligase that targets the intracellular region of Jagged-2 and is aberrantly overexpressed in multiple myeloma cells., [RefSeq, PubMed]; Skeletrophin might be a novel suppressor factor for melanoma invasion, [RefSeq, PubMed]; Skeletrophin, a novel RING molecule controlled by the chromatin remodeling complex, is down-regulated in melanoma., [RefSeq, PubMed]; The protein encoded by this gene is an E3 ubiquitin protein ligase that mediates ubiquitination of proteins in the Notch signaling pathway. The encoded protein may be a suppressor of melanoma invasion. [provided by RefSeq, Mar 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2AGM5;A2AGM6;B3KV93;B3KVF4;B3KXY1;B4DZ57;E9PGU1;E9PHQ1;F8WA73;J3KNZ7;Q7Z437;Q8IY62;Q8N786;Q8N897;Q8N8R2;Q8N911;Q8NB36;Q8NCY1;Q8NG59;Q8NG60;Q8NG61;Q8NI59;Q8WYN1", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.24", "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": "2.3.2.31", "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": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "2.3.2.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.25", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" } ], "go_molecular_function": "GO:0003779 actin binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007219 Notch signaling pathway;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0016567 protein ubiquitination;GO:0010803 regulation of tumor necrosis factor-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "Q96AX9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99707-1", "uniprot_id": [ { "id": "METH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99707", "type": "external" } ], "mass": 140527.0, "length": 1265, "protein_name": "Methionine synthase", "gene_name": "MTR", "organism": "Human", "refseq_name": "methionine synthase isoform 1", "refseq_ac": [ { "id": "NP_000245", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000245", "type": "external" } ], "gene_names_uniprotkb": "MTR", "gene_names_refseq": "HMAG; MS; MTR; cblG", "protein_names_uniprotkb": "Methionine synthase; 2.1.1.13; 5-methyltetrahydrofolate--homocysteine methyltransferase; Cobalamin-dependent methionine synthase; MS; Vitamin-B12 dependent methionine synthase", "protein_names_refseq": "5-methyltetrahydrofolate-homocysteine methyltransferase 1; cobalamin-dependent methionine synthase; methionine synthase isoform 1; vitamin-B12 dependent methionine synthase", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); vitamin B12 deficiency (Disease Ontology:DOID:0050731); methylmalonic aciduria and homocystinuria type cblG (Disease Ontology:DOID:0050733); spina bifida (Disease Ontology:DOID:0080016); neural tube defect (Disease Ontology:DOID:0080074); homocystinuria-megaloblastic anemia cblG type (Disease Ontology:DOID:0112256); hypertension (Disease Ontology:DOID:10763); urinary bladder cancer (Disease Ontology:DOID:11054); heart disease (Disease Ontology:DOID:114); autistic disorder (Disease Ontology:DOID:12849); pancreatic cancer (Disease Ontology:DOID:1793); IgA glomerulonephritis (Disease Ontology:DOID:2986); cerebral infarction (Disease Ontology:DOID:3526); retinoblastoma (Disease Ontology:DOID:768); abdominal aortic aneurysm (Disease Ontology:DOID:7693); hyperhomocysteinemia (Disease Ontology:DOID:9279); type 2 diabetes mellitus (Disease Ontology:DOID:9352); multiple myeloma (Disease Ontology:DOID:9538); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:4548); (R-HSA-156581); (R-HSA-1614635); (R-HSA-3359467); (R-HSA-3359469); (R-HSA-9013407); (R-HSA-9759218)", "pathway_count": 7, "publication_count": 158, "publication_id_list": "10.1101/2023.09.13.557529;10331075;10444342;10484769;10514445;10644686;10978155;11237011;11368848;11511179;11809807;12068375;12163696;12375236;12438653;12514191;12555939;12590576;13981612;15523652;15714522;15788214;15913339;15979034;16267626;16281286;16311595;16407288;16769880;17028588;17064668;17288554;17311260;17477549;17892308;18230605;18251506;18385497;18457970;18539146;18779575;19243433;19447654;19801555;20068231;20120036;20184954;20657474;20851766;21071249;21193388;21697092;21872626;22156578;22832074;23270877;23481700;24715725;24734162;25418920;25505266;25576301;25645385;2567699;26154972;26375851;26811146;26992070;27570878;27600516;27771510;27846572;27920218;28063628;28218747;28228285;28352266;28514659;28832583;28834231;28855257;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29510700;29557506;29632046;29632711;29769354;29786170;30192525;30282455;30315122;30410026;30429286;30524438;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31871319;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33797888;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34561969;34932366;35051231;35318648;35561310;35580925;36010968;36241641;36284347;37296303;37531512;37628752;37938771;38325832;40914422;4390543;8968735;8968736;8968737;9013615;9175157;9501215;9586999", "class_list": "", "function": "Association of MTR and MTRR genes and oral health-related quality of life in children with dental caries. Publication Status: Online-Only, [RefSeq, PubMed]; Association of MTR gene polymorphisms with the occurrence of non-syndromic congenital heart disease: a case-control study. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the transfer of a methyl group from methylcob(III)alamin (MeCbl) to homocysteine, yielding enzyme-bound cob(I)alamin and methionine in the cytosol (PubMed:16769880, PubMed:17288554, PubMed:27771510). MeCbl is an active form of cobalamin (vitamin B12) used as a cofactor for methionine biosynthesis. Cob(I)alamin form is regenerated to MeCbl by a transfer of a methyl group from 5-methyltetrahydrofolate (PubMed:16769880, PubMed:17288554, PubMed:27771510). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine (PubMed:16769880, PubMed:27771510)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Common Variants in One-Carbon Metabolism Genes (MTHFR, MTR, MTHFD1) and Depression in Gynecologic Cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic Association between the Risk of Dental Caries and MTR Gene Polymorphism in Chinese Children., [RefSeq, PubMed]; This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 19, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A1L4N8;A9Z1W4;B7ZLW7;B9EGF7;Q99713;Q99723", "ec_number_list": [ { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "2.7.11.1", "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": "2.3.1.168", "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": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.13", "type": "external" }, { "id": "1.16.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.8", "type": "external" }, { "id": "1.16.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.6", "type": "external" }, { "id": "2.5.1.151", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.151", "type": "external" } ], "go_molecular_function": "GO:0008705 methionine synthase activity;GO:0008270 zinc ion binding;GO:0031419 cobalamin binding;GO:0046872 metal ion binding;GO:0008172 S-methyltransferase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005737 cytoplasm", "go_biological_process": "GO:0007399 nervous system development;GO:0009235 cobalamin metabolic process;GO:0048678 response to axon injury;GO:0071732 cellular response to nitric oxide;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 16.4, "record_id": "Q99707-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99797-1", "uniprot_id": [ { "id": "MIPEP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99797", "type": "external" } ], "mass": 80641.0, "length": 713, "protein_name": "Mitochondrial intermediate peptidase", "gene_name": "MIPEP", "organism": "Human", "refseq_name": "mitochondrial intermediate peptidase precursor", "refseq_ac": [ { "id": "NP_005923", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005923", "type": "external" } ], "gene_names_uniprotkb": "MIPEP; MIP", "gene_names_refseq": "COXPD31; HMIP; MIPEP; MIP", "protein_names_uniprotkb": "Mitochondrial intermediate peptidase; 3.4.24.59; MIP", "protein_names_refseq": "mitochondrial intermediate peptidase precursor", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 31 (Disease Ontology:DOID:0111488); lipodystrophy (Disease Ontology:DOID:811)", "pathway": " (hsa:4285)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "17322306;19608861;20068231;20877624;23481700;25418920;26811146;27600516;27799064;27846572;28832583;28904123;29508533;29769354;30315122;30429286;31217245;31844290;32157095;32387766;32491259;32938616;33091337;33592498;33912179;34171305;34357683;34561969;34706496;35051231;35494241;35580925;9073519", "class_list": "", "function": "Cleaves proteins, imported into the mitochondrion, to their mature size., [UniProtKB]; Functional coupling of presequence processing and degradation in human mitochondria., [RefSeq, PubMed]; Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JV15;Q5T9Q9;Q96G65", "ec_number_list": [], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0016485 protein processing;GO:0006627 protein processing involved in protein targeting to mitochondrion", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q99797-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXL9-1", "uniprot_id": [ { "id": "MCM9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXL9", "type": "external" } ], "mass": 127313.0, "length": 1143, "protein_name": "DNA helicase MCM9", "gene_name": "MCM9", "organism": "Human", "refseq_name": "DNA helicase MCM9 isoform 1", "refseq_ac": [ { "id": "NP_060166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060166", "type": "external" } ], "gene_names_uniprotkb": "MCM9; C6orf61; MCMDC1", "gene_names_refseq": "C6orf61; MCM9; MCMDC1; ODG4; dJ329L24.1; dJ329L24.3", "protein_names_uniprotkb": "DNA helicase MCM9; 5.6.2.4; DNA 3'-5' helicase MCM9; Mini-chromosome maintenance deficient domain-containing protein 1; Minichromosome maintenance 9; hMCM9", "protein_names_refseq": "DNA 3'-5' helicase MCM9; DNA helicase MCM9 isoform 1; DNA helicase MCM9; DNA replication licensing factor MCM9; mini-chromosome maintenance deficient domain-containing protein 1; minichromosome maintenance complex component 9", "tax_id": 9606, "disease": "ovarian dysgenesis 4 (Disease Ontology:DOID:0080496); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:254394)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15850810;16226853;18657502;20068231;23186163;23401855;23403237;23481700;25480036;25576301;25645385;26154972;26215093;26300262;26992070;27846572;27893789;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29632046;29786170;30315122;31092671;31154438;31467087;31844290;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;34043945;34087483;34171305;34509645;35051231;35580925;36241641;37309874;37535404;38678026", "class_list": "", "function": "Activity, substrate preference and structure of the HsMCM8/9 helicase., [RefSeq, PubMed]; Cdt1, with its two opposing regulatory binding factors MCM9 and geminin, appears to be a major platform on the pre-replication complexes to integrate cell-cycle signals., [RefSeq, PubMed]; Component of the MCM8-MCM9 complex, which is involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross-links (ICLs) by homologous recombination (HR) (PubMed:23401855). The MCM8-MCM9 complex is a 3'-5' DNA helicase and single-stranded (ss)DNA-stimulated ATPase which binds ssDNA in the presence of nucleoside triphosphates (PubMed:37309874). Required for DNA resection by the MRE11-RAD50-NBN/NBS1 (MRN) complex by recruiting the MRN complex to the repair site and by promoting the complex nuclease activity (PubMed:26215093). Indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs, probably by regulating the localization of the MNR complex (PubMed:23401855). Acts as a helicase in DNA mismatch repair (MMR) following DNA replication errors to unwind the mismatch containing DNA strand (PubMed:26300262). In addition, recruits MLH1, a component of the MMR complex, to chromatin (PubMed:26300262). The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression (PubMed:23401855). Plays a key role during gametogenesis, probably by regulating HR (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Identified a novel MCM family gene, MCM9, by using bioinformatics; mouse MCM9 mRNA was upregulated by transcription factor E2E1 and serum stimulation in NIH3T3 cells., [RefSeq, PubMed]; Mechanism of DNA unwinding by MCM8-9 in complex with HROB. Publication Status: Online-Only, [RefSeq, PubMed]; Structural study of the N-terminal domain of human MCM8/9 complex., [RefSeq, PubMed]; The protein encoded by this gene is a member of the mini-chromosome maintenance (MCM) protein family that are essential for the initiation of eukaryotic genome replication. Binding of this protein to chromatin has been shown to be a pre-requisite for recruiting the MCM2-7 helicase to DNA replication origins. This protein also binds, and is a positive regulator of, the chromatin licensing and DNA replication factor 1, CDT1. [provided by RefSeq, Nov 2010]., [RefSeq]; We also show that the very recently reported human MCM9 protein (HsMCM9), which resembles a truncated MCM-like protein missing a part of the MCM2-7 signature domain, is an incomplete form of the full length HsMCM9 described here., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 4, "reported_glycation": 0, "reported_snv": 16, "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": "B4DR30;B9DI77;Q2KHJ0;Q8N5S5;Q9HCV5", "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:0043138 3'-5' DNA helicase activity;GO:0003682 chromatin binding;GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005694 chromosome;GO:0097362 MCM8-MCM9 complex;GO:0042555 MCM complex", "go_biological_process": "GO:0006974 DNA damage response;GO:0000724 double-strand break repair via homologous recombination;GO:0007292 female gamete generation;GO:0071168 protein localization to chromatin;GO:0036298 recombinational interstrand cross-link repair", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q9NXL9-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NHM9-1", "uniprot_id": [ { "id": "MOXD2_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NHM9", "type": "external" } ], "mass": 56320.0, "length": 499, "protein_name": "Putative DBH-like monooxygenase protein 2", "gene_name": "MOXD2P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MOXD2P; MOXD2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative DBH-like monooxygenase protein 2; 1.14.17.-; DBH-like monooxygenase protein 2 pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "17642472;33392160", "class_list": "", "function": "", "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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005507 copper ion binding;GO:0004500 dopamine beta-monooxygenase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0030667 secretory granule membrane", "go_biological_process": "GO:0042420 dopamine catabolic process;GO:0006589 octopamine biosynthetic process;GO:0042421 norepinephrine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NHM9-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60669-1", "uniprot_id": [ { "id": "MOT2_HUMAN", "url": "https://www.uniprot.org/uniprot/O60669", "type": "external" } ], "mass": 52200.0, "length": 478, "protein_name": "Monocarboxylate transporter 2", "gene_name": "SLC16A7", "organism": "Human", "refseq_name": "monocarboxylate transporter 2", "refseq_ac": [ { "id": "NP_001257551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257551", "type": "external" } ], "gene_names_uniprotkb": "SLC16A7; MCT2", "gene_names_refseq": "MCT2; SLC16A7", "protein_names_uniprotkb": "Monocarboxylate transporter 2; MCT 2; Solute carrier family 16 member 7", "protein_names_refseq": "monocarboxylate transporter 2; solute carrier family 16 (monocarboxylate transporter), member 7; solute carrier family 16, member 7 (monocarboxylic acid transporter 2)", "tax_id": 9606, "disease": "", "pathway": " (hsa:9194); (R-HSA-433692)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10493836;10590411;11237011;12657613;13929721;14757520;15505343;15911216;15917240;17701893;18582575;19651622;24265240;28510447;28514659;28657654;28832583;28855257;28904123;29242379;29557506;30315122;30484775;30833945;31154438;31217245;31222486;31844290;32157095;32161166;32350084;32357974;32387766;32415067;32819565;32938616;32983136;33141586;33298915;33592498;33912179;33968037;34171305;34357683;35051231;35254053;35580925;35939682;36010968;36241641;36284347;36814318;8124722;9786900", "class_list": "", "function": "Functional heterogeneity of MCT1 and MCT4 in metabolic reprogramming affects osteosarcoma growth and metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of the essential extracellular aspartic acids conserved in human monocarboxylate transporters 1, 2, and 4., [RefSeq, PubMed]; MCT2 immunoreactivity was noted in astrocytic cell bodies from week 19 and spread subsequently to the astrocyte end-feet in contact with blood vessels of visual cortex., [RefSeq, PubMed]; Proton-coupled monocarboxylate symporter. Catalyzes the rapid transport across the plasma membrane of monocarboxylates such as L-lactate, pyruvate and ketone bodies, acetoacetate, beta-hydroxybutyrate and acetate (PubMed:32415067, PubMed:9786900). Dimerization is functionally required and both subunits work cooperatively in transporting substrate (PubMed:32415067)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]., [RefSeq]; Whole-brain neuronal MCT2 lactate transporter expression links metabolism to human brain structure and 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": 1, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8NEM3;Q9UPB3", "ec_number_list": [], "go_molecular_function": "GO:0005477 pyruvate secondary active transmembrane transporter activity;GO:0042802 identical protein binding;GO:0015293 symporter activity;GO:0050833 pyruvate transmembrane transporter activity;GO:0015129 lactate transmembrane transporter activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:0035873 lactate transmembrane transport;GO:1901475 pyruvate transmembrane transport;GO:0035879 plasma membrane lactate transport;GO:0150104 transport across blood-brain barrier", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "O60669-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14149-1", "uniprot_id": [ { "id": "MORC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14149", "type": "external" } ], "mass": 107113.0, "length": 939, "protein_name": "MORC family CW-type zinc finger protein 3", "gene_name": "MORC3", "organism": "Human", "refseq_name": "MORC family CW-type zinc finger protein 3 isoform 1", "refseq_ac": [ { "id": "NP_056173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056173", "type": "external" } ], "gene_names_uniprotkb": "MORC3; KIAA0136; NXP2; ZCWCC3", "gene_names_refseq": "MORC3; NXP2; ZCW5; ZCWCC3", "protein_names_uniprotkb": "MORC family CW-type zinc finger protein 3; Nuclear matrix protein 2; Zinc finger CW-type coiled-coil domain protein 3", "protein_names_refseq": "MORC family CW-type zinc finger protein 3 isoform 1; MORC family CW-type zinc finger protein 3; nuclear matrix protein 2; nuclear matrix protein NXP2; zinc finger CW-type coiled-coil domain protein 3; zinc finger, CW type with coiled-coil domain 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:23515)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "11237011;11927593;16567619;17332504;18669648;19651622;20501696;23186163;24714562;24715725;25114211;25218447;25576301;25755297;25772364;26154972;26202233;26375851;26728094;26933034;26992070;27440897;27846572;28218747;28904123;29242379;29351928;29437277;29493099;29557506;30315122;30379171;30429286;30779550;30833945;30850548;31006586;31154438;31844290;31848261;32157095;32161166;32350084;32387766;32488085;32502341;32897882;32938616;32983136;33592498;33691108;33717175;33912179;33968037;33981976;34561969;34759314;34932366;35051231;35318648;35580925;35879101;36010968;36284347;37217939;38009611;38838015;40596516", "class_list": "", "function": "(Microbial infection) May be required for influenza A transcription during viral infection (PubMed:26202233)., [UniProtKB, PubMed]; Determination of nuclear matrix-binding, RNA-binding, and coiled-coil domans, [RefSeq, PubMed]; MORC3 (microrchidia3)-ATPase activated p53 and induced cellular senescence in normal fibroblasts but not p53-/- fibroblasts, [RefSeq, PubMed]; MORC3 represses the HCMV major immediate early promoter in myeloid cells in the absence of PML nuclear bodies., [RefSeq, PubMed]; MORC3 restricts human cytomegalovirus infection by suppressing the major immediate-early promoter activity., [RefSeq, PubMed]; Nuclear matrix protein which forms MORC3-NBs (nuclear bodies) via an ATP-dependent mechanism and plays a role in innate immunity by restricting different viruses through modulation of the IFN response (PubMed:27440897, PubMed:34759314). Mechanistically, possesses a primary antiviral function through a MORC3-regulated element that activates IFNB1, and this function is guarded by a secondary IFN-repressing function (PubMed:34759314). Sumoylated MORC3-NBs associates with PML-NBs and recruits TP53 and SP100, thus regulating TP53 activity (PubMed:17332504, PubMed:20501696). Binds RNA in vitro (PubMed:11927593). Histone methylation reader which binds to non-methylated (H3K4me0), monomethylated (H3K4me1), dimethylated (H3K4me2) and trimethylated (H3K4me3) 'Lys-4' on histone H3 (PubMed:26933034). The order of binding preference is H3K4me3 > H3K4me2 > H3K4me1 > H3K4me0 (PubMed:26933034)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a protein that localizes to the nuclear matrix and forms nuclear bodies via an ATP-dependent mechanism. The protein is predicted to have coiled-coil and zinc finger domains and has RNA binding activity. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2016]., [RefSeq]; When tethered to a promoter by fusion to Gal4, NXP-2 repressed transcription, consistent with a role for NXP-2 in SUMO-mediated repression, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 11, "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": "A8KA92;Q9UEZ2", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0030674 protein-macromolecule adaptor activity;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016363 nuclear matrix;GO:0016605 PML body;GO:0000785 chromatin", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006468 protein phosphorylation;GO:0050821 protein stabilization;GO:0048147 negative regulation of fibroblast proliferation;GO:0018105 peptidyl-serine phosphorylation", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q14149-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZV6-1", "uniprot_id": [ { "id": "MSRB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZV6", "type": "external" } ], "mass": 12760.0, "length": 116, "protein_name": "Methionine-R-sulfoxide reductase B1", "gene_name": "MSRB1", "organism": "Human", "refseq_name": "methionine-R-sulfoxide reductase B1 isoform 1", "refseq_ac": [ { "id": "NP_057416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057416", "type": "external" } ], "gene_names_uniprotkb": "MSRB1; HSPC270; SEPX1", "gene_names_refseq": "HSPC270; MSRB1; SELENOR; SELENOX; SELR; SELX; SEPX1; SepR", "protein_names_uniprotkb": "Methionine-R-sulfoxide reductase B1; 1.8.4.12; 1.8.4.14; MsrB1; SelX; Selenoprotein X", "protein_names_refseq": "methionine-R-sulfoxide reductase B1 isoform 1; methionine-R-sulfoxide reductase B1; selenoprotein R; selenoprotein X, 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51734); (R-HSA-5676934)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10375640;10452521;10567350;10608886;11237011;11779133;12220640;17938273;24715725;25576301;26138980;26154972;27920218;28832583;29242379;29395081;29493099;29508533;29557506;30429286;30779550;31844290;32157095;32897882;33298915;33592498;33912179;34561969;35318648;35580925;36084791;3624258;7592526", "class_list": "", "function": "In vivo, MsrB1 shRNAi can inhibit lung metastasis in metastasis model. In conclusion, MsrB1 regulates proliferation and invasion of u2os cells by affecting MAPK pathway and EMT, and MsrB1 gene may be a novel therapeutic target against tumors., [RefSeq, PubMed]; Methionine-sulfoxide reductase that specifically reduces methionine (R)-sulfoxide back to methionine. While in many cases, methionine oxidation is the result of random oxidation following oxidative stress, methionine oxidation is also a post-translational modification that takes place on specific residue. Acts as a regulator of actin assembly by reducing methionine (R)-sulfoxide mediated by MICALs (MICAL1, MICAL2 or MICAL3) on actin, thereby promoting filament repolymerization. Plays a role in innate immunity by reducing oxidized actin, leading to actin repolymerization in macrophages., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The neutrophils expressed the highest activity Msrs. Msrs are important as antioxidant/repair systems for neutrophils, cells with enormous capacity for the generation of reactive oxidants and hence, susceptible to oxidative damage., [RefSeq, PubMed]; The protein encoded by this gene belongs to the methionine-R-sulfoxide reductase B (MsrB) family. Members of this family function as repair enzymes that protect proteins from oxidative stress by catalyzing the reduction of methionine-R-sulfoxides to methionines. This protein is highly expressed in liver and kidney, and is localized to the nucleus and cytosol. It is the only member of the MsrB family that is a selenoprotein, containing a selenocysteine (Sec) residue at its active site. It also has the highest methionine-R-sulfoxide reductase activity compared to other members containing cysteine in place of Sec. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. A pseudogene of this locus has been identified on chromosome 19. [provided by RefSeq, Aug 2017]., [RefSeq]; The selenoprotein methionine sulfoxide reductase B1 (MSRB1). Review article, [RefSeq, PubMed]; The studies in mouse show that MsrB is a selenoprotein that exhibits high specificity for reduction of the R forms of free and protein-bound methionine sulfoxide., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q96RX6;Q9BTV2;Q9P0B1", "ec_number_list": [ { "id": "1.8.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.12", "type": "external" }, { "id": "1.8.4.14", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.4.14", "type": "external" } ], "go_molecular_function": "GO:0033743 peptide-methionine (R)-S-oxide reductase activity;GO:0033745 L-methionine-(R)-S-oxide reductase activity;GO:0003779 actin binding;GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0015629 actin cytoskeleton;GO:0005856 cytoskeleton", "go_biological_process": "GO:0045087 innate immune response;GO:0030041 actin filament polymerization;GO:0030091 protein repair", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9NZV6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P25713-1", "uniprot_id": [ { "id": "MT3_HUMAN", "url": "https://www.uniprot.org/uniprot/P25713", "type": "external" } ], "mass": 6927.0, "length": 68, "protein_name": "Metallothionein-3", "gene_name": "MT3", "organism": "Human", "refseq_name": "metallothionein-3", "refseq_ac": [ { "id": "NP_005945", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005945", "type": "external" } ], "gene_names_uniprotkb": "MT3", "gene_names_refseq": "GIFB; GIF; GRIF; MT3; ZnMT3", "protein_names_uniprotkb": "Metallothionein-3; GIFB; GIF; Growth inhibitory factor; MT-3; MT-III; Metallothionein-III", "protein_names_refseq": "metallothionein 3 (growth inhibitory factor (neurotrophic)); metallothionein-3; metallothionein-III", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); hypothyroidism (Disease Ontology:DOID:1459); transient cerebral ischemia (Disease Ontology:DOID:224); motor neuron disease (Disease Ontology:DOID:231); psychotic disorder (Disease Ontology:DOID:2468); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); middle cerebral artery infarction (Disease Ontology:DOID:3525); multiple system atrophy (Disease Ontology:DOID:4752); borna disease (Disease Ontology:DOID:5154); median neuropathy (Disease Ontology:DOID:571)", "pathway": " (hsa:4504); (R-HSA-5661231)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10542048;10716985;10830841;11237011;11994011;12072966;12911326;12963354;1464312;15033980;15698955;15736926;1631128;16413543;16984198;17224279;17388808;17389590;18157556;18429853;18454142;18533113;1873033;19425569;20463663;20711450;21320589;22242602;22283439;22823575;22982309;23086305;23506369;23523794;24973778;28538697;35503771;36639030;38904023;7677777;8039715", "class_list": "", "function": "Apo-metallothionein-3 cooperatively forms tightly compact structures under physiological conditions., [RefSeq, PubMed]; Binds heavy metals. Contains three zinc and three copper atoms per polypeptide chain and only a negligible amount of cadmium. Inhibits survival and neurite formation of cortical neurons in vitro., [UniProtKB]; In recent years, the roles of zinc dynamics and MT3 function in neurodegeneration are slowly emerging. This short review focuses on the recent developments regarding the chemistry and biology of MT3. [review] Review article Publication Status: Online-Only, [RefSeq, PubMed]; Metallothionein 3 Potentiates Pulmonary Artery Smooth Muscle Cell Proliferation by Promoting Zinc-MTF1-ATG5 Axis-mediated Autophagosome Formation. Publication Status: Online-Only, [RefSeq, PubMed]; Metallothioneins have a high content of cysteine residues that bind various heavy metals., [UniProtKB, UniProtKB, UniProtKB]; Protein interactions with metallothionein-3 promote vectorial active transport in human proximal tubular cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions. This gene family member displays tissue-specific expression, and contains a threonine insert near its N-terminus and a glutamate-rich hexapeptide insert near its C-terminus relative to the proteins encoded by other gene family members. It plays an important role in zinc and copper homeostasis, and is induced under hypoxic conditions. The encoded protein is a growth inhibitory factor, and reduced levels of the protein are observed in the brains of individuals with some metal-linked neurodegenerative disorders such as 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "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": "Q2V574", "ec_number_list": [], "go_molecular_function": "GO:0046870 cadmium ion binding;GO:0008270 zinc ion binding;GO:0046872 metal ion binding;GO:0030295 protein kinase activator activity;GO:0016209 antioxidant activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane;GO:0005829 cytosol", "go_biological_process": "GO:2000296 negative regulation of hydrogen peroxide catabolic process;GO:0006829 zinc ion transport;GO:0001934 positive regulation of protein phosphorylation;GO:0010628 positive regulation of gene expression;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "P25713-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N339-1", "uniprot_id": [ { "id": "MT1M_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N339", "type": "external" } ], "mass": 6110.0, "length": 61, "protein_name": "Metallothionein-1M", "gene_name": "MT1M", "organism": "Human", "refseq_name": "metallothionein-1M", "refseq_ac": [ { "id": "NP_789846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789846", "type": "external" } ], "gene_names_uniprotkb": "MT1M; MT1K", "gene_names_refseq": "MT-1M; MT-IM; MT1K; MT1M; MT1", "protein_names_uniprotkb": "Metallothionein-1M; MT-1M; MT-IM; Metallothionein-IM", "protein_names_refseq": "metallothionein 1K; metallothionein 1Y; metallothionein-1M", "tax_id": 9606, "disease": "", "pathway": " (hsa:4499); (R-HSA-5661231)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10542048;10716985;10830841;11237011;11994011;12072966;12911326;12963354;15033980;15698955;15736926;16984198;17224279;17388808;17389590;18157556;18429853;18454142;18533113;19425569;20463663;20711450;21320589;22242602;22283439;22823575;22982309;23086305;23506369;23523794;24973778;30227328;31002354;33214551;33820882;37276792", "class_list": "", "function": "In clear cell renal cell carcinoma (RCC) MT1E, MT1G and MT1M expression was higher than that noted in other histological tumor subtypes (all P<0.0500). In addition, some associations were observed between metabolic syndromerelated clinical parameters and promoter methylation or gene expression, [RefSeq, PubMed]; MT1M regulates gastric cancer progression and stemness by modulating the Hedgehog pathway protein GLI1., [RefSeq, PubMed]; Metallothionein MT1M Suppresses Carcinogenesis of Esophageal Carcinoma Cells through Inhibition of the Epithelial-Mesenchymal Transition and the SOD1/PI3K Axis., [RefSeq, PubMed]; Metallothioneins have a high content of cysteine residues that bind various heavy metals., [UniProtKB, UniProtKB]; Metallothioneins have a high content of cysteine residues that bind various heavy metals; these proteins are transcriptionally regulated by both heavy metals and glucocorticoids., [UniProtKB]; MiR-545-3p, which served as a tumor promoter, post-transcriptionally regulate MT1M in HCC through binding to its untranslated region (3'UTR)., [RefSeq, PubMed]; This gene encodes a member of the metallothionein superfamily, type 1 family. Metallothioneins have a high content of cysteine residues that bind various heavy metals. These genes are transcriptionally regulated by both heavy metals and glucocorticoids. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q8TDN3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0071276 cellular response to cadmium ion;GO:0071280 cellular response to copper ion;GO:0010273 detoxification of copper ion;GO:0006882 intracellular zinc ion homeostasis;GO:0071294 cellular response to zinc ion", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q8N339-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15375-1", "uniprot_id": [ { "id": "MOT6_HUMAN", "url": "https://www.uniprot.org/uniprot/O15375", "type": "external" } ], "mass": 54994.0, "length": 505, "protein_name": "Monocarboxylate transporter 6", "gene_name": "SLC16A5", "organism": "Human", "refseq_name": "monocarboxylate transporter 6", "refseq_ac": [ { "id": "NP_001258694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258694", "type": "external" } ], "gene_names_uniprotkb": "SLC16A5; MCT5; MCT6", "gene_names_refseq": "MCT5; MCT6; SLC16A5", "protein_names_uniprotkb": "Monocarboxylate transporter 6; MCT 5; MCT 6; Monocarboxylate transporter 5; Solute carrier family 16 member 5", "protein_names_refseq": "monocarboxylate transporter 5; monocarboxylate transporter 6; solute carrier family 16 (monocarboxylate transporter), member 5; solute carrier family 16 (monocarboxylic acid transporters), member 5; solute carrier family 16, member 5 (monocarboxylic acid transporter 6)", "tax_id": 9606, "disease": "", "pathway": " (hsa:9121)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;22911660;28448657;33141586;33968037;34549875;36010968;36241641;9425115", "class_list": "", "function": "Identify a novel association between protein-coding variation in SLC16A5 and cisplatin-induced ototoxic effects in testicular cancer patients., [RefSeq, PubMed]; Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Solute carrier family 16 member 5 downregulation and its methylation might serve as a prognostic indicator of prostate cancer., [RefSeq, PubMed]; This gene encodes a member of the monocarboxylate transporter family and the major facilitator superfamily. The encoded protein is localized to the cell membrane and acts as a proton-linked transporter of bumetanide. Transport by the encoded protein is inhibited by four loop diuretics, nateglinide, thiazides, probenecid, and glibenclamide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]., [RefSeq]; We demonstrated that SLC16A5 and ZNF206 displayed altered methylation patterns in the neuroblastoma genome, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B4E288", "ec_number_list": [], "go_molecular_function": "GO:0015293 symporter activity;GO:0008028 monocarboxylic acid transmembrane transporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0015718 monocarboxylic acid transport", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "O15375-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75970-1", "uniprot_id": [ { "id": "MPDZ_HUMAN", "url": "https://www.uniprot.org/uniprot/O75970", "type": "external" } ], "mass": 221618.0, "length": 2070, "protein_name": "Multiple PDZ domain protein", "gene_name": "MPDZ", "organism": "Human", "refseq_name": "multiple PDZ domain protein isoform 2", "refseq_ac": [ { "id": "NP_001248335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001248335", "type": "external" } ], "gene_names_uniprotkb": "MPDZ; MUPP1", "gene_names_refseq": "HYC2; MPDZ; MUPP1", "protein_names_uniprotkb": "Multiple PDZ domain protein; Multi-PDZ domain protein 1", "protein_names_refseq": "multi-PDZ domain protein 1; multiple PDZ domain protein isoform 2; multiple PDZ domain protein", "tax_id": 9606, "disease": "congenital hydrocephalus 2 (Disease Ontology:DOID:0070683); hydrocephalus (Disease Ontology:DOID:10908)", "pathway": " (hsa:8777)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "10.1101/2023.09.13.557529;11000240;11150294;11237011;11802782;15312654;15316081;15364909;17384233;18669648;21406692;22869377;23186163;23240096;24275569;25576301;25645385;26768311;26992070;27600516;27846572;28556411;28834231;29242379;29331515;29557506;29786170;30429286;31154438;31222486;31844290;31848261;32157095;32161166;32350084;32488085;32897882;32938616;33592498;33968037;34019948;34087483;34171305;34405274;35051231;35251023;35305607;35318648;35580925;36010968;36215666;36241641;36594712;37074911;37938771;37949382;9537516", "class_list": "", "function": "Evaluating the association between MPDZ-NF1B rs1324183 and keratoconus in an independent northwestern Chinese population. Publication Status: Online-Only, [RefSeq, PubMed]; MPDZ is associated with immune infiltration and regulates migration and invasion by switching YAP1 phosphorylation in colorectal cancer., [RefSeq, PubMed]; Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses (PubMed:11150294, PubMed:15312654). Promotes clustering of HT2RC at the cell surface (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review. Review article, [RefSeq, PubMed]; The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 58, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NLC2;B2RTS3;B7ZMI4;O43798;Q4LE30;Q5CZ80;Q5JTX3;Q5JTX6;Q5JTX7;Q5JUC3;Q5JUC4;Q5VZ62;Q8N790", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005923 bicellular tight junction;GO:0014069 postsynaptic density;GO:0030425 dendrite", "go_biological_process": "GO:0120192 tight junction assembly", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "O75970-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95248-1", "uniprot_id": [ { "id": "MTMR5_HUMAN", "url": "https://www.uniprot.org/uniprot/O95248", "type": "external" } ], "mass": 208443.0, "length": 1868, "protein_name": "Myotubularin-related protein 5", "gene_name": "SBF1", "organism": "Human", "refseq_name": "myotubularin-related protein 5 isoform 1", "refseq_ac": [ { "id": "NP_002963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002963", "type": "external" } ], "gene_names_uniprotkb": "SBF1; MTMR5", "gene_names_refseq": "CMT4B3; DENND7A; MTMR5; SBF1", "protein_names_uniprotkb": "Myotubularin-related protein 5; Inactive phosphatidylinositol 3-phosphatase 5; SET-binding factor 1; Sbf1", "protein_names_refseq": "DENN/MADD domain containing 7A; inactive phosphatidylinositol 3-phosphatase 5; myotubularin-related protein 5 isoform 1; myotubularin-related protein 5", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 4B3 (Disease Ontology:DOID:0110194); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:6305); (R-HSA-1483248); (R-HSA-8876198)", "pathway_count": 3, "publication_count": 255, "publication_id_list": "10101268;10818110;10848615;10990452;11038176;11179213;11237011;11516400;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12324459;12364329;12427552;12475894;12668758;12684051;12944476;12972505;14527956;14530412;15096524;15138286;1516130;15247254;15388334;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;18354496;18367545;1845915;18477386;18477474;18559336;18585354;18664496;18669648;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;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23481700;23645161;23678941;23684622;23713133;23749797;23839779;24129315;24275569;24296415;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25522275;25645385;25648148;25713415;25892735;25925668;26055712;26177209;26245486;26375851;26434594;26538022;26728094;26925400;26936971;27041585;27044746;27103185;27246931;27329675;27600516;27920218;28228285;28514659;28832583;28834231;29242379;29331515;29393594;29493099;29557506;29632046;29632711;29769354;29786170;30039846;30315122;30429286;31217245;31844290;32157095;32357974;32387766;32444983;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34185709;34211107;34561969;34718573;35051231;35251023;35561310;35580604;35580925;36010968;36104480;36284347;37938771;7688123;7911226;8144603;8408203;8522602;8863739;9020086;9020161;9030515;9136770;9148941;9323142;9537414;9590177;9733780;9736772", "class_list": "", "function": "A (GCC) repeat in SBF1 reveals a novel biological phenomenon in human and links to late onset neurocognitive disorder. Publication Status: Online-Only, [RefSeq, PubMed]; A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres., [RefSeq, PubMed]; Acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location (PubMed:12668758). Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form (PubMed:20937701). May function as a guanine nucleotide exchange factor (GEF) activating RAB28 (PubMed:20937701). Acts as a suppressor of autophagy in neurons (PubMed:35580604). Together with its binding partner, the phosphatase MTMR2, plays a role in dephosphorylation of phosphoinositides critical for autophagy initiation and autophagosome maturation (PubMed:35580604). Plays a role in positively regulating late-stage radial sorting of large caliber axons, a process leading to myelination by Schwann cells, possibly via regulating endosomal trafficking (By similarity). Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts (PubMed:9537414)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; SBF1 (MTMR5) belongs to the myotubularin family of phosphoinositides phosphatases-like, [RefSeq, PubMed]; The novel SBF1 null mutation highlights distinct severe phenotypic manifestations, broadening the clinical spectrum of SBF1-related neuropathies: cerebellar and pyramidal signs evident in the first months of life with peripheral polyneuropathy emerging only toward the end of the first decade, together with unique MRI findings., [RefSeq, PubMed]; This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R4Z9;A6PVG9;G5E933;O60228;Q5JXD8;Q5PPM2;Q96GR9;Q9UGB8", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:0043495 protein-membrane adaptor activity;GO:0008138 protein tyrosine/serine/threonine phosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0007286 spermatid development;GO:0006470 protein dephosphorylation;GO:0006661 phosphatidylinositol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 25.6, "record_id": "O95248-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95297-1", "uniprot_id": [ { "id": "MPZL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95297", "type": "external" } ], "mass": 29082.0, "length": 269, "protein_name": "Myelin protein zero-like protein 1", "gene_name": "MPZL1", "organism": "Human", "refseq_name": "myelin protein zero-like protein 1 isoform c precursor", "refseq_ac": [ { "id": "NP_001139663", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139663", "type": "external" } ], "gene_names_uniprotkb": "MPZL1; PRO1787; PZR", "gene_names_refseq": "MPZL1b; MPZL1; PZR1b; PZRa; PZRb; PZR", "protein_names_uniprotkb": "Myelin protein zero-like protein 1; Protein zero-related", "protein_names_refseq": "immunoglobulin family transmembrane protein; myelin protein zero-like protein 1 isoform c precursor; myelin protein zero-like protein 1; protein zero related", "tax_id": 9606, "disease": "", "pathway": " (hsa:9019)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "10.1101/2023.09.13.557529;10681522;11237011;11751924;12075424;12410637;12684038;12975309;17016520;17081983;17322306;17924679;18578522;18669648;18691976;18707149;18767875;19349973;19413330;19651622;19664994;19690332;20068231;20166139;21406692;22645359;23186163;23719902;24190977;25502872;25880248;26992070;28467828;28510447;29242379;29437277;29493099;29557506;29741879;30315122;30392906;30429286;30484775;31844290;32157095;32350084;32983136;33043033;33091337;33392160;33592498;33633747;33717175;33936100;33968037;34019948;34171305;34357683;35051231;35154160;35251023;35637954;35727197;36215666;36241641;37074911;37183407;38665916;40307207;9792637", "class_list": "", "function": "Cell surface receptor, which is involved in signal transduction processes. Recruits PTPN11/SHP-2 to the cell membrane and is a putative substrate of PTPN11/SHP-2. Is a major receptor for concanavalin-A (ConA) and is involved in cellular signaling induced by ConA, which probably includes Src family tyrosine-protein kinases. Isoform 3 seems to have a dominant negative role; it blocks tyrosine phosphorylation of MPZL1 induced by ConA. Isoform 1, but not isoform 2 and isoform 3, may be involved in regulation of integrin-mediated cell motility., [UniProtKB, PubMed, PubMed]; LncRNA TNFRSF10A-AS1 promotes gastric cancer by directly binding to oncogenic MPZL1 and is associated with patient outcome. Publication Status: Online-Only, [RefSeq, PubMed]; MPZL1 Promotes Lung Adenocarcinoma Progression by Enhancing Tumor Proliferation, Invasion, Migration, and Suppressing Immune Function via Transforming Growth Factor-beta1., [RefSeq, PubMed]; MPZL1 upregulation promotes tumor metastasis and correlates with unfavorable prognosis in non-small cell lung cancer., [RefSeq, PubMed]; PZR is a major receptor of ConA and has an important role in cell signaling via c-Src. Considering the various biological activities of ConA, the study of PZR may have major therapeutic implications, [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": 5, "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": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 15, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 55, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2REB9;B2REC0;Q5R332;Q8IX11;Q9BWZ3;Q9NYK4;Q9UL20", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005925 focal adhesion;GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007267 cell-cell signaling", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "O95297-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95563-1", "uniprot_id": [ { "id": "MPC2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95563", "type": "external" } ], "mass": 14279.0, "length": 127, "protein_name": "Mitochondrial pyruvate carrier 2", "gene_name": "MPC2", "organism": "Human", "refseq_name": "mitochondrial pyruvate carrier 2", "refseq_ac": [ { "id": "NP_001137146", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137146", "type": "external" } ], "gene_names_uniprotkb": "MPC2; BRP44", "gene_names_refseq": "BRP44; MPC2; SLC54A2", "protein_names_uniprotkb": "Mitochondrial pyruvate carrier 2; Brain protein 44", "protein_names_refseq": "brain protein 44; mitochondrial pyruvate carrier 2", "tax_id": 9606, "disease": "intestinal cancer (Disease Ontology:DOID:10155)", "pathway": " (hsa:25874); (R-HSA-70268)", "pathway_count": 2, "publication_count": 91, "publication_id_list": "11230166;11237011;11276087;11377399;11863375;11945601;12121650;12962632;14596586;15551868;15870898;18351441;1931970;1935931;19536175;19679512;1993674;1996957;21156174;22628558;23284632;2440048;24715725;24998673;25202825;25418920;25575590;25576301;25594249;25892735;26253029;26992070;27166188;27317664;27846572;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29437277;29472561;29508533;29557506;29769354;3022128;30315122;30410026;30779550;31844290;31848261;32157095;32265295;32387766;32403431;32502341;32938616;33064660;33141586;33298915;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34211107;3435492;34357683;34509645;34561969;34664967;35051231;35278701;36010968;36417180;37938771;40044865;40101766;4822737;7757881;7818469;8726225;9119391;9705294", "class_list": "", "function": "Characterization of the rat ortholog, [RefSeq, PubMed]; MPC2 variants disrupt mitochondrial pyruvate metabolism and cause an early-onset mitochondriopathy., [RefSeq, PubMed]; Mediates the uptake of pyruvate into mitochondria to maintain the balance between glycolysis and oxidative phosphorylation (PubMed:22628558, PubMed:26253029, PubMed:27317664, PubMed:29472561, PubMed:40044865, PubMed:40101766, PubMed:35278701). Plays an essential role in cellular metabolism (PubMed:40044865, PubMed:40101766)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mediates the uptake of pyruvate into mitochondria., [UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Structural Insights into the Human Mitochondrial Pyruvate Carrier Complexes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K261;Q3SXR6;Q6FIF3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0050833 pyruvate transmembrane transporter activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:7770001 mitochondrial pyruvate carrier complex", "go_biological_process": "GO:0006850 pyruvate import into mitochondria", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "O95563-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P03956-1", "uniprot_id": [ { "id": "MMP1_HUMAN", "url": "https://www.uniprot.org/uniprot/P03956", "type": "external" } ], "mass": 54007.0, "length": 469, "protein_name": "Interstitial collagenase", "gene_name": "MMP1", "organism": "Human", "refseq_name": "interstitial collagenase isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_002412", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002412", "type": "external" } ], "gene_names_uniprotkb": "MMP1; CLG", "gene_names_refseq": "CLG; MMP1", "protein_names_uniprotkb": "Interstitial collagenase; 3.4.24.7; Fibroblast collagenase; MMP-1; Matrix metalloproteinase-1", "protein_names_refseq": "fibroblast collagenase; interstitial collagenase isoform 1 preproprotein; matrix metallopeptidase 1 (interstitial collagenase); matrix metalloprotease 1", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); glomerulosclerosis (Disease Ontology:DOID:0050851); renal fibrosis (Disease Ontology:DOID:0050855); stroke (Disease Ontology:DOID:0051061); atrial fibrillation (Disease Ontology:DOID:0060224); scoliosis (Disease Ontology:DOID:0060249); thrombosis (Disease Ontology:DOID:0060903); COVID-19 (Disease Ontology:DOID:0080600); immunoglobulin light chain amyloidosis (Disease Ontology:DOID:0080933); primary open angle glaucoma (Disease Ontology:DOID:1070); hypertension (Disease Ontology:DOID:10763); cholesteatoma of middle ear (Disease Ontology:DOID:10964); urinary bladder cancer (Disease Ontology:DOID:11054); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930); carotid stenosis (Disease Ontology:DOID:13001); lung cancer (Disease Ontology:DOID:1324); exfoliation syndrome (Disease Ontology:DOID:13641); thoracic aortic aneurysm (Disease Ontology:DOID:14004); breast cancer (Disease Ontology:DOID:1612); aortic valve stenosis (Disease Ontology:DOID:1712); atherosclerosis (Disease Ontology:DOID:1936); obstructive lung disease (Disease Ontology:DOID:2320); arteriosclerosis (Disease Ontology:DOID:2349); ovarian cancer (Disease Ontology:DOID:2394); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); coronary artery disease (Disease Ontology:DOID:3393); carotid artery disease (Disease Ontology:DOID:3407); pulmonary fibrosis (Disease Ontology:DOID:3770); systemic scleroderma (Disease Ontology:DOID:418); cervical cancer (Disease Ontology:DOID:4362); renal cell carcinoma (Disease Ontology:DOID:4450); esophagus adenocarcinoma (Disease Ontology:DOID:4914); epidermolysis bullosa dystrophica (Disease Ontology:DOID:4959); liver cirrhosis (Disease Ontology:DOID:5082); stomach carcinoma (Disease Ontology:DOID:5517); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); rheumatoid arthritis (Disease Ontology:DOID:7148); abdominal aortic aneurysm (Disease Ontology:DOID:7693); end stage renal disease (Disease Ontology:DOID:783); varicose veins (Disease Ontology:DOID:799); periodontitis (Disease Ontology:DOID:824); osteoarthritis (Disease Ontology:DOID:8398); localized scleroderma (Disease Ontology:DOID:8472); ulcerative colitis (Disease Ontology:DOID:8577); intermediate coronary syndrome (Disease Ontology:DOID:8805); skin melanoma (Disease Ontology:DOID:8923); autosomal dominant polycystic kidney disease (Disease Ontology:DOID:898); degenerative disc disease (Disease Ontology:DOID:90); psoriatic arthritis (Disease Ontology:DOID:9008); systemic lupus erythematosus (Disease Ontology:DOID:9074); Barrett's esophagus (Disease Ontology:DOID:9206); ocular hypertension (Disease Ontology:DOID:9282); type 2 diabetes mellitus (Disease Ontology:DOID:9352); pulmonary emphysema (Disease Ontology:DOID:9675); tendinitis (Disease Ontology:DOID:971)", "pathway": " (hsa:4312); (R-HSA-1442490); (R-HSA-1474228); (R-HSA-1592389); (R-HSA-210991); (R-HSA-381426); (R-HSA-6785807)", "pathway_count": 7, "publication_count": 314, "publication_id_list": "10023775;10026136;10049780;10077652;10092871;10218588;10219247;10229672;10369418;10386589;10510379;10512690;10551873;10586089;10614670;10681634;10706100;10809722;10810289;10867011;10880960;10898936;10912521;10921872;10951195;10986281;10990447;11013208;11058569;11084045;11104795;11119712;11120780;11158056;11250653;11264294;11278437;11278729;11316783;11356008;11375993;11404481;11463377;11522292;11577169;11606061;11719518;11739083;11751371;11788658;11830519;11872628;11927537;11943775;11960372;12223527;12241545;12242343;12379487;12466191;12558975;12579531;12600988;12727852;12810533;12832402;12843408;12904166;1311314;1370451;1371271;1383255;1390635;14634100;14707126;14712222;1480033;14973287;15005656;15116091;15126567;15234972;15257288;15261459;15308688;15469690;15485880;15525596;15584925;15591058;15611040;15642270;15805299;15869882;15901826;15946952;15950618;15950906;15958533;16007214;16048438;16107692;16133547;16205632;16236134;16260747;16397018;16451196;1645757;1649600;16510571;16540365;16606674;16631740;16807369;16825197;16825321;1698775;1704217;17047378;1707285;17088321;17249697;17312271;17332331;17354228;17427945;17458857;17572495;17608959;1783204;17985932;17996943;18243101;18353781;18434311;18447642;18622425;18644974;18658137;19010778;19124156;19185846;19397496;19413330;19571574;19657146;19714641;2005102;20058876;20142769;20493732;21030783;21102457;21252155;21297635;21441952;2153297;21593211;2159879;21670566;2167156;21689689;2169257;2169335;21730069;2176865;21784848;21864727;21935455;21937440;21994466;22046235;22159414;22205702;22241472;22382088;22383755;2253219;2269296;22693070;22851691;23035980;23086340;23124025;23172665;23345538;23455323;23555662;2383557;23845380;23967200;24097101;24743777;2476804;2479552;25171405;25234944;2537292;2546891;2548603;2551898;2557753;2557822;26091039;26992070;2834383;2845110;3009463;3027129;3030290;3032950;3037355;3038863;3058116;31844290;32157095;3223920;32488085;33392160;34185709;35051231;35580925;38148093;38514057;38527983;39007144;4216367;6258630;6263256;6270089;6694361;7075587;7510216;7512451;7519608;7523391;7525263;7525634;7525824;7527330;7529288;7538844;7543116;7547873;7588299;7656013;7669817;7683646;7689487;7746327;7780967;7795521;7796300;7826345;7890645;7890717;7896811;7898939;7907877;7981201;8015608;8031754;8085155;8090713;8194591;8226919;8278810;8314771;8463259;8530478;8576151;8602263;8621565;8621622;8626565;8645182;8663118;8663255;8668165;8781553;8797861;8804434;8816495;8817670;8894645;8920930;8964575;8999957;9013879;9065415;9092507;9115292;9148753;9261109;9346290;9360995;9422744;9461298;9484219;9497324;9578462;9632662;9651359;9651395;9709957;9723655;9733769;9736340;9786878;9822675;9852107;9874564;9922210", "class_list": "glycogene", "function": "AGBL4 promotes malignant progression of glioblastoma via modulation of MMP-1 and inflammatory pathways. Publication Status: Online-Only, [RefSeq, PubMed]; Association of Matrix Metalloproteinase-1 Promoter Polymorphisms With Asthma Risk., [RefSeq, PubMed]; Cleaves collagens of types I, II, and III at one site in the helical domain. Also cleaves collagens of types VII and X (PubMed:1645757, PubMed:2153297, PubMed:2557822). In case of HIV infection, interacts and cleaves the secreted viral Tat protein, leading to a decrease in neuronal Tat's mediated neurotoxicity (PubMed:16807369)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Elevated MMP1 Expression in Carcinoma-Associated Fibroblasts of Breast Cancer Contributes to Tumor Progression and Unfavorable Prognosis., [RefSeq, PubMed]; MMP1, MMP9, MMP11 and MMP13 in melanoma and its metastasis - key points in understanding the mechanisms and celerity of tumor dissemination., [RefSeq, PubMed]; This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down the interstitial collagens, including types I, II, and III. The gene is part of a cluster of MMP genes on chromosome 11. Mutations in this gene are associated with chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 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": 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": 6, "reported_phosphosites": 6, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 673, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 48, "disease_count": 59, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "P08156", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.21.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.34", "type": "external" }, { "id": "3.4.24.7", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.7", "type": "external" }, { "id": "3.4.21.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.4", "type": "external" }, { "id": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "type": "external" }, { "id": "3.4.24.24", "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": "3.4.21.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.20", "type": "external" }, { "id": "3.4.24.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.23", "type": "external" }, { "id": "3.4.24.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.22", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "type": "external" }, { "id": "3.4.24.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.34", "type": "external" }, { "id": "3.4.21.39", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.39", "type": "external" }, { "id": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "type": "external" }, { "id": "3.4.24.65", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.65", "type": "external" }, { "id": "3.4.21.59", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.59", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0008270 zinc ion binding;GO:0008233 peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0022617 extracellular matrix disassembly;GO:0030198 extracellular matrix organization;GO:0031334 positive regulation of protein-containing complex assembly;GO:0030574 collagen catabolic process", "synthesized_glycan_count": 0, "hit_score": 36.6, "record_id": "P03956-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100000001.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08118-1", "uniprot_id": [ { "id": "MSMB_HUMAN", "url": "https://www.uniprot.org/uniprot/P08118", "type": "external" } ], "mass": 12865.0, "length": 114, "protein_name": "Beta-microseminoprotein", "gene_name": "MSMB", "organism": "Human", "refseq_name": "beta-microseminoprotein isoform a precursor", "refseq_ac": [ { "id": "NP_002434", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002434", "type": "external" } ], "gene_names_uniprotkb": "MSMB; PRSP", "gene_names_refseq": "HPC13; IGBF; MSMB; MSPB; MSP; PN44; PRPS; PSP-94; PSP57; PSP94; PSP", "protein_names_uniprotkb": "Beta-microseminoprotein; IGBF; Immunoglobulin-binding factor; PN44; PSP-94; PSP94; Prostate secreted seminal plasma protein; Prostate secretory protein of 94 amino acids; Seminal plasma beta-inhibin", "protein_names_refseq": "beta-microseminoprotein isoform a precursor; beta-microseminoprotein; immunoglobulin binding factor; prostate secreted seminal plasma protein; prostate secretory protein of 94 amino acids; seminal plasma beta-inhibin", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283)", "pathway": " (hsa:4477)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "10491085;11237011;11788998;15344909;16930619;18264096;1930232;20184897;2054385;22887727;2322265;2590204;28930560;29250809;31089709;31773691;33122083;35580925;3829888;3995056;6434350;7506990;7566962;7671139", "class_list": "", "function": "A meta-analysis of influence of MSMB promoter rs10993994 polymorphisms on prostate cancer risk. Review article, [RefSeq, PubMed]; Aggressive prostate tumors suppress MSMB synthesis in the benign prostate and this could explain why serum levels of MSMB are decreased in prostate cancer patients., [RefSeq, PubMed]; Low plasma microseminoprotein-beta levels are associated with prostate cancer., [RefSeq, PubMed]; Studies indicate prostate secretory protein of 94 amino acids (PSP94) as a prostate tumor marker [Review]. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the immunoglobulin binding factor family. It is synthesized by the epithelial cells of the prostate gland and secreted into the seminal plasma. This protein has inhibin-like activity. It may have a role as an autocrine paracrine factor in uterine, breast and other female reproductive tissues. The expression of the encoded protein is found to be decreased in prostate cancer. Two alternatively spliced transcript variants encoding different isoforms are described for this gene. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Validation of prostate cancer risk variants rs10993994 and rs7098889 by CRISPR/Cas9 mediated genome editing., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B1API6;P11999;Q13125;Q6IAY9;Q9UC59", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "P08118-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DKB6-1", "uniprot_id": [ { "id": "MPC1L_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DKB6", "type": "external" } ], "mass": 15138.0, "length": 136, "protein_name": "Mitochondrial pyruvate carrier 1-like protein", "gene_name": "MPC1L", "organism": "Human", "refseq_name": "mitochondrial pyruvate carrier 1-like protein", "refseq_ac": [ { "id": "NP_001182451", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001182451", "type": "external" } ], "gene_names_uniprotkb": "MPC1L", "gene_names_refseq": "MPC1L; SLC54A3", "protein_names_uniprotkb": "Mitochondrial pyruvate carrier 1-like protein", "protein_names_refseq": "brain protein 44-like protein 2; mitochondrial pyruvate carrier 1-like protein", "tax_id": 9606, "disease": "mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:347411); (R-HSA-70268)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "11276087;11377399;11863375;11945601;12121650;12962632;14596586;15551868;15870898;18351441;1931970;1935931;19679512;1993674;1996957;21156174;22628558;23284632;2440048;24998673;25202825;25575590;25594249;27166188;27317664;29472561;32403431;33064660;3435492;35051231;35278701;36417180;37217939;4822737;7757881;7818469;8726225;9119391;9705294", "class_list": "", "function": "Mediates the uptake of pyruvate into mitochondria., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0050833 pyruvate transmembrane transporter activity", "go_cellular_component": "GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006850 pyruvate import into mitochondria", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "P0DKB6-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P39900-1", "uniprot_id": [ { "id": "MMP12_HUMAN", "url": "https://www.uniprot.org/uniprot/P39900", "type": "external" } ], "mass": 54002.0, "length": 470, "protein_name": "Macrophage metalloelastase", "gene_name": "MMP12", "organism": "Human", "refseq_name": "macrophage metalloelastase preproprotein", "refseq_ac": [ { "id": "NP_002417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002417", "type": "external" } ], "gene_names_uniprotkb": "MMP12; HME", "gene_names_refseq": "HME; ME; MME; MMP-12; MMP12", "protein_names_uniprotkb": "Macrophage metalloelastase; 3.4.24.65; ME; MME; MMP-12; Macrophage elastase; Matrix metalloproteinase-12; hME", "protein_names_refseq": "macrophage metalloelastase preproprotein; macrophage metalloelastase; matrix metallopeptidase 12 (macrophage elastase); matrix metalloproteinase 12 (macrophage elastase)", "tax_id": 9606, "disease": "intracranial aneurysm (Disease Ontology:DOID:10941); crescentic glomerulonephritis (Disease Ontology:DOID:13139); thoracic aortic aneurysm (Disease Ontology:DOID:14004); Marfan syndrome (Disease Ontology:DOID:14323); arteriosclerosis (Disease Ontology:DOID:2349); multiple sclerosis (Disease Ontology:DOID:2377); coronary aneurysm (Disease Ontology:DOID:3362); coronary artery disease (Disease Ontology:DOID:3393); clear cell renal cell carcinoma (Disease Ontology:DOID:4467); anti-basement membrane glomerulonephritis (Disease Ontology:DOID:4780); esophagus adenocarcinoma (Disease Ontology:DOID:4914); abdominal aortic aneurysm (Disease Ontology:DOID:7693); Barrett's esophagus (Disease Ontology:DOID:9206)", "pathway": " (hsa:4321); (R-HSA-1442490); (R-HSA-1474228)", "pathway_count": 3, "publication_count": 100, "publication_id_list": "10049780;10229672;10386589;10551873;10706100;10809722;10986281;11013208;11119712;11375993;11575928;11575929;11577169;11872628;11927537;12579531;12727852;12843408;14973287;15005656;15234972;15257288;15591058;15950618;15958533;16133547;1649600;16631740;16825197;16825321;1698775;1704217;1707285;17088321;17332331;17354228;17608959;18434311;18622425;18658137;18991276;19010778;19571574;19657146;19714641;2005102;20142769;21030783;21297635;21441952;21593211;21670566;2169335;21784848;21864727;21935455;22159414;22241472;22382088;2253219;23035980;23845380;2537292;2548603;2551898;2834383;2845110;29557506;29789417;3038863;3223920;32938616;32983136;33043033;34185709;35051231;37812024;38288346;38632141;38652053;38771844;6258630;6270089;6694361;7075587;7547873;7890717;8226919;8463259;8576151;8626565;8920930;8999957;9065415;9092507;9115292;9148753;9461298;9651395;9852107", "class_list": "", "function": "HOXB9 promotes laryngeal squamous cell carcinoma progression by upregulating MMP12. Publication Status: Online-Only, [RefSeq, PubMed]; Integrated Exploration of Epigenetic Dysregulation Reveals a Stemness/EMT Subtype and MMP12 Linked to the Progression and Prognosis in Hepatocellular Carcinoma., [RefSeq, PubMed]; MTOR Suppresses Cigarette Smoke-Induced Airway Inflammation and MMP12 Expression in Macrophage in Chronic Obstructive Pulmonary Disease. Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1' site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3., [UniProtKB]; Prognostic and clinicopathological significance of MMP12 in various cancers: a meta-analysis and bioinformatics analysis., [RefSeq, PubMed]; SNP-SNP positive interaction between MMP2 and MMP12 increases the risk of COPD. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease degrades soluble and insoluble elastin. This gene may play a role in aneurysm formation and mutations in this gene are associated with lung function and chronic obstructive pulmonary disease (COPD). This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 13, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B2R9X8;B7ZLF6;Q2M1L9", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.24.7", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.7", "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": "3.4.21.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.37", "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": "3.4.24.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.22", "type": "external" }, { "id": "3.4.24.19", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.19", "type": "external" }, { "id": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "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": "3.4.24.65", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.65", "type": "external" }, { "id": "3.4.22.38", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.38", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0031012 extracellular matrix", "go_biological_process": "GO:0032727 positive regulation of interferon-alpha production;GO:0050691 regulation of defense response to virus by host;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006508 proteolysis;GO:0022617 extracellular matrix disassembly", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "P39900-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51512-1", "uniprot_id": [ { "id": "MMP16_HUMAN", "url": "https://www.uniprot.org/uniprot/P51512", "type": "external" } ], "mass": 69521.0, "length": 607, "protein_name": "Matrix metalloproteinase-16", "gene_name": "MMP16", "organism": "Human", "refseq_name": "matrix metalloproteinase-16 precursor", "refseq_ac": [ { "id": "NP_005932", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005932", "type": "external" } ], "gene_names_uniprotkb": "MMP16; C8orf57; MMPX2", "gene_names_refseq": "C8orf57; MMP-X2; MMP16; MT-MMP2; MT-MMP3; MT3-MMP", "protein_names_uniprotkb": "Matrix metalloproteinase-16; 3.4.24.-; MMP-16; MMP-X2; MT-MMP 3; MT3-MMP; MT3MMP; MTMMP3; Membrane-type matrix metalloproteinase 3; Membrane-type-3 matrix metalloproteinase", "protein_names_refseq": "MMP-16; MT-MMP 3; MT3MMP; MTMMP3; Putative transmembrane protein C8orf57; matrix metallopeptidase 16 (membrane-inserted); matrix metalloproteinase-16 precursor; matrix metalloproteinase-16; membrane-type matrix metalloproteinase 3; membrane-type-3 matrix metalloproteinase", "tax_id": 9606, "disease": "", "pathway": " (hsa:4325); (R-HSA-1592389); (R-HSA-9839383)", "pathway_count": 3, "publication_count": 59, "publication_id_list": "11237011;11278606;11830519;1311314;1371271;1390635;14741217;1480033;17129378;1783204;18083107;20166139;2159879;2169257;2176865;2269296;2383557;2546891;2551898;2557753;3058116;32350084;32488085;33592498;33968037;34433824;34448644;34747300;35051231;35062057;35580925;36120833;37244635;4216367;6263256;7559440;7669817;7746327;7780967;7826345;7890645;7896811;7981201;8015608;8194591;8314771;8530478;8576151;8621565;8645182;8663255;8804434;9092507;9261109;9346290;9396633;9422744;9578462;9632662", "class_list": "", "function": "Changes in the expression of membrane type-matrix metalloproteinases genes (MMP14, MMP15, MMP16, MMP24) during treatment and their potential impact on the survival of patients with non-small cell lung cancer (NSCLC)., [RefSeq, PubMed]; Circular RNA hsa_circ_0002360 promotes non-small cell lung cancer progression through upregulating matrix metalloproteinase 16 and sponging multiple micorRNAs., [RefSeq, PubMed]; Endopeptidase that degrades various components of the extracellular matrix, such as collagen type III and fibronectin. Activates progelatinase A. Involved in the matrix remodeling of blood vessels. Isoform short cleaves fibronectin and also collagen type III, but at lower rate. It has no effect on type I, II, IV and V collagen. However, upon interaction with CSPG4, it may be involved in degradation and invasion of type I collagen by melanoma cells., [UniProtKB, PubMed]; LncRNA NEAT1 regulates MMP-16 by targeting miR-200a/b to aggravate inflammation in asthma., [RefSeq, PubMed]; M1 macrophage-derived exosomes containing miR-150 inhibit glioma progression by targeting MMP16., [RefSeq, PubMed]; MMP16 as NSCL +/- P Susceptible Gene in Western Han Chinese., [RefSeq, PubMed]; Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. The encoded protein activates MMP2 by cleavage. This gene was once referred to as MT-MMP2, but was renamed as MT-MMP3 or MMP16. [provided by RefSeq, Oct 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "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": "B2RAN7;Q14824;Q52H48", "ec_number_list": [ { "id": "3.4.24.24", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.24", "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.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.24.80", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.80", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008047 enzyme activator activity;GO:0008270 zinc ion binding;GO:0070006 metalloaminopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0016485 protein processing;GO:0030198 extracellular matrix organization;GO:0001501 skeletal system development;GO:0030574 collagen catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P51512-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00325-1", "uniprot_id": [ { "id": "S25A3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00325", "type": "external" } ], "mass": 40095.0, "length": 362, "protein_name": "Solute carrier family 25 member 3", "gene_name": "SLC25A3", "organism": "Human", "refseq_name": "solute carrier family 25 member 3 isoform b precursor", "refseq_ac": [ { "id": "NP_002626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002626", "type": "external" } ], "gene_names_uniprotkb": "SLC25A3; PHC; SW-cl.48", "gene_names_refseq": "OK/SW-cl.48; PHC; PTP; PiC; SLC25A3", "protein_names_uniprotkb": "Solute carrier family 25 member 3; PTP; Phosphate carrier protein, mitochondrial; Phosphate transport protein", "protein_names_refseq": "phosphate carrier), member 3; phosphate transport protein; solute carrier family 25 (mitochondrial carrier; solute carrier family 25 member 3 isoform b precursor", "tax_id": 9606, "disease": "mitochondrial metabolism disease (Disease Ontology:DOID:700); cardiomyopathy-hypotonia-lactic acidosis syndrome (MONDO:MONDO:0012557)", "pathway": " (hsa:5250)", "pathway_count": 1, "publication_count": 117, "publication_id_list": "11237011;12750860;14654843;17273968;1777677;19369195;19608861;20068231;23481700;24129315;24366607;24397554;24714562;24715725;25418920;25576301;25645385;25802875;25810538;25892735;26154972;26375851;26811146;26853435;26929215;26992070;27397612;27452731;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29237729;29242379;29317506;29331515;29371260;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30573663;30779550;30784271;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32938616;32979421;32983136;33043033;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33633747;33717175;33912179;33936100;33968037;34019948;34171305;34185709;34211107;34357683;34433824;34725712;34932366;35051231;35083852;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38552738;38665916;38897394;40652815;8144629", "class_list": "", "function": "Getting out what you put in: Copper in mitochondria and its impacts on human disease. Review article, [RefSeq, PubMed]; Inorganic ion transporter that transports phosphate or copper ions across the mitochondrial inner membrane into the matrix compartment (By similarity) (PubMed:17273968, PubMed:29237729). Mediates proton-coupled symport of phosphate ions necessary for mitochondrial oxidative phosphorylation of ADP to ATP (By similarity) (PubMed:17273968). Transports copper ions probably in the form of anionic copper(I) complexes to maintain mitochondrial matrix copper pool and to supply copper for cytochrome C oxidase complex assembly (PubMed:29237729). May also play a role in regulation of the mitochondrial permeability transition pore (mPTP) (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; METTL14-mediated methylation of SLC25A3 mitigates mitochondrial damage in osteoblasts, leading to the improvement of osteoporosis., [RefSeq, PubMed]; SLC25A3 negatively regulates NLRP3 inflammasome activation by restricting the function of NLRP3., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KS34;Q7Z7N7;Q96A03", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0005315 phosphate transmembrane transporter activity;GO:0015317 phosphate:proton symporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0035435 phosphate ion transmembrane transport;GO:1990547 mitochondrial phosphate ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "Q00325-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13421-3", "uniprot_id": [ { "id": "MSLN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13421", "type": "external" } ], "mass": 68070.0, "length": 622, "protein_name": "Mesothelin", "gene_name": "MSLN", "organism": "Human", "refseq_name": "mesothelin isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_001170826", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001170826", "type": "external" } ], "gene_names_uniprotkb": "MSLN; MPF", "gene_names_refseq": "MPF; MSLN; SMRP", "protein_names_uniprotkb": "Mesothelin; CAK1 antigen; Pre-pro-megakaryocyte-potentiating factor", "protein_names_refseq": "CAK1 antigen; megakaryocyte potentiating factor; mesothelin isoform 1 preproprotein; pre-pro-megakaryocyte-potentiating factor; soluble MPF mesothelin related protein", "tax_id": 9606, "disease": "pancreatic cancer (Disease Ontology:DOID:1793); ovarian cancer (Disease Ontology:DOID:2394); pancreas disease (Disease Ontology:DOID:26); pancreatic ductal carcinoma (Disease Ontology:DOID:3587); common bile duct neoplasm (Disease Ontology:DOID:4608); bile duct carcinoma (Disease Ontology:DOID:4897)", "pathway": " (hsa:10232); (R-HSA-163125); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 4, "publication_count": 102, "publication_id_list": "10.1101/2023.09.13.557529;10026136;10077652;10218588;10500211;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11072085;11158056;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;1370451;1383255;14676194;15126567;15140265;15308688;15469690;15485880;15525596;15642270;15897581;16857795;17047378;17249697;17312271;17985932;20068231;22787150;23090970;24190977;2443973;24520352;2476804;2479552;25946035;26091039;27452731;29093164;29233904;29391424;29854291;30140382;30245692;31844290;32157095;32488085;32938616;33792699;33968037;34019948;3422494;34932366;35051231;35580925;36284347;37074911;37914528;38227666;38396817;38637885;39294656;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7665620;7683646;7689487;8288629;8552591;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Enhanced Expression of Glycolytic Enzymes and Succinate Dehydrogenase Complex Flavoprotein Subunit A by Mesothelin Promotes Glycolysis and Mitochondrial Respiration in Myeloblasts of Acute Myeloid Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; Megakaryocyte-potentiating factor (MPF) potentiates megakaryocyte colony formation in vitro., [UniProtKB]; Membrane-anchored forms may play a role in cellular adhesion., [UniProtKB]; Mesothelin expression in gynecologic carcinosarcoma: clinicopathological significance and correlation with HER2 expression., [RefSeq, PubMed]; Mesothelin-based CAR-T cells exhibit potent antitumor activity against ovarian cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a preproprotein that is proteolytically processed to generate two protein products, megakaryocyte potentiating factor and mesothelin. Megakaryocyte potentiating factor functions as a cytokine that can stimulate colony formation of bone marrow megakaryocytes. Mesothelin is a glycosylphosphatidylinositol-anchored cell-surface protein that may function as a cell adhesion protein. This protein is overexpressed in epithelial mesotheliomas, ovarian cancers and in specific squamous cell carcinomas. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]., [RefSeq]; Tumor resistance to anti-mesothelin CAR-T cells caused by binding to shed mesothelin is overcome by targeting a juxtamembrane epitope., [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": 4, "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": 4, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 6, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "D3DU65;Q14859;Q4VQD5;Q96GR6;Q96KJ5;Q9BR17;Q9BTR2;Q9UCB2;Q9UK57", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0007155 cell adhesion;GO:0007160 cell-matrix adhesion", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q13421-3", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100100001001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15390-1", "uniprot_id": [ { "id": "MTFR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15390", "type": "external" } ], "mass": 37000.0, "length": 333, "protein_name": "Mitochondrial fission regulator 1", "gene_name": "MTFR1", "organism": "Human", "refseq_name": "mitochondrial fission regulator 1 isoform 2", "refseq_ac": [ { "id": "NP_001139310", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139310", "type": "external" } ], "gene_names_uniprotkb": "MTFR1; CHPPR; FAM54A2; KIAA0009", "gene_names_refseq": "CHPPR; FAM54A2; MTFR1", "protein_names_uniprotkb": "Mitochondrial fission regulator 1; Chondrocyte protein with a poly-proline region", "protein_names_refseq": "chondrocyte protein with a poly-proline region; mitochondrial fission regulator 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9650)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;12359332;15389597;17525332;17709566;17924679;18452278;18669648;19651622;20068231;20877624;23186163;23481700;24275569;24715725;25418920;25576301;25645385;26154972;26811146;27846572;28218747;28832583;28904123;29242379;29557506;29786170;30315122;30429286;30620550;31066044;31154438;31844290;31848261;32157095;32161166;32387766;32938616;33141586;33298915;33936100;34087483;34211107;34509645;34561969;35051231;35251023;36215666;38170222;40596516", "class_list": "", "function": "May play a role in mitochondrial aerobic respiration. May also regulate mitochondrial organization and fission (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Our results suggested that miR-324-5p protects against oxidative stress-induced endothelial progenitor cells injury by regulating Mtfr1., [RefSeq, PubMed]; Overexpression of MTFR1 promotes cancer progression and drug-resistance on cisplatin and is related to the immune microenvironment in lung adenocarcinoma., [RefSeq, PubMed]; Plays a role in mitochondrial aerobic respiration. Regulates mitochondrial organization and fission., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Presents partial sequence of a human homolog of chicken MTFR1, [RefSeq, PubMed]; Reports full-length mRNA sequence of human MTFR1., [RefSeq, PubMed]; Reports the role of mouse Mtfr1 in protecting cells from reactive oxygen species using Mtfr1-deficient mice., [RefSeq, PubMed]; This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X. [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": 5, "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": "E7EP84;Q6IB94;Q7Z669;Q86XH5;Q8IVD7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007005 mitochondrion organization;GO:0000266 mitochondrial fission;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q15390-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15800-1", "uniprot_id": [ { "id": "MSMO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15800", "type": "external" } ], "mass": 35216.0, "length": 293, "protein_name": "Methylsterol monooxygenase 1", "gene_name": "MSMO1", "organism": "Human", "refseq_name": "methylsterol monooxygenase 1 isoform 2", "refseq_ac": [ { "id": "NP_001017369", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017369", "type": "external" } ], "gene_names_uniprotkb": "MSMO1; DESP4; ERG25; SC4MOL", "gene_names_refseq": "DESP4; ERG25; MCCPD; MSMO1; SC4MOL", "protein_names_uniprotkb": "Methylsterol monooxygenase 1; 1.14.18.9; C-4 methylsterol oxidase; Sterol-C4-methyl oxidase", "protein_names_refseq": "C-4 methylsterol oxidase; methylsterol monooxygenase 1 isoform 2; sterol-C4-methyl oxidase", "tax_id": 9606, "disease": "chondrodysplasia punctata (Disease Ontology:DOID:2581); microcephaly-congenital cataract-psoriasiform dermatitis syndrome (MONDO:MONDO:0014793)", "pathway": " (hsa:6307); (R-HSA-6807047); (R-HSA-6807062)", "pathway_count": 3, "publication_count": 121, "publication_id_list": "10.1101/2023.09.13.557529;10369263;10391218;10391219;11237011;11519011;12189593;12618959;12812989;12829805;14404284;14506130;16784888;18660489;20068231;20112406;21285510;22424782;22645359;22791750;23050906;23583456;24144731;24190977;24366607;24714562;24715725;25418920;25502872;25576301;25880248;25892735;26038696;26114596;26154972;26375851;26768311;26811146;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28673550;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33161406;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34078123;34087483;34171305;34211107;34357683;34405274;34509645;34561969;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;36958722;37938771;8619637;8663358;8797093;9465114", "class_list": "", "function": "Catalyzes the three-step monooxygenation required for the demethylation of 4,4-dimethyl and 4alpha-methylsterols, which can be subsequently metabolized to cholesterol (PubMed:21285510, PubMed:23583456, PubMed:26114596, PubMed:28673550, PubMed:36958722). Also involved in drug metabolism, as it can metabolize eldecalcitol (ED-71 or 1alpha,25-dihydroxy-2beta-(3-hydroxypropoxy)-cholecalciferol), a second-generation vitamin D analog, into 1alpha,2beta,25-trihydroxy vitamin D3; this reaction occurs via enzymatic hydroxylation and spontaneous O-dehydroxypropylation (PubMed:26038696)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Human SC4MOL encodes a methyl sterol oxidase that may have a role in psoriasiform dermatitis, microcephaly, and developmental delay, [RefSeq, PubMed]; New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SC4MOL is situated within the psoriasis susceptibility locus PSORS9, and may be a genetic risk factor for common skin conditions. [review] Review article, [RefSeq, PubMed]; Sterol-C4-mehtyl oxidase-like protein was isolated based on its similarity to the yeast ERG25 protein. It contains a set of putative metal binding motifs with similarity to that seen in a family of membrane desaturases-hydroxylases. The protein is localized to the endoplasmic reticulum membrane and is believed to function in cholesterol biosynthesis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Variants in/near SC4MOL, were associated with FI and IR in this cohort of African Amer, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 9562, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K8Q3;A8MYF6;D3DP32;Q32Q24", "ec_number_list": [ { "id": "1.14.18.9", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.18.9", "type": "external" } ], "go_molecular_function": "GO:0000254 C-4 methylsterol oxidase activity;GO:0005506 iron ion binding;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006631 fatty acid metabolic process;GO:0016126 sterol biosynthetic process;GO:0006695 cholesterol biosynthetic process;GO:0008202 steroid metabolic process;GO:0033489 cholesterol biosynthetic process via desmosterol", "synthesized_glycan_count": 0, "hit_score": 12.5, "record_id": "Q15800-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q1L6U9-1", "uniprot_id": [ { "id": "MSMP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q1L6U9", "type": "external" } ], "mass": 14993.0, "length": 139, "protein_name": "Prostate-associated microseminoprotein", "gene_name": "MSMP", "organism": "Human", "refseq_name": "prostate-associated microseminoprotein precursor", "refseq_ac": [ { "id": "NP_001037729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001037729", "type": "external" } ], "gene_names_uniprotkb": "MSMP; PSMP", "gene_names_refseq": "MSMP; PSMP", "protein_names_uniprotkb": "Prostate-associated microseminoprotein; PC3-secreted microprotein", "protein_names_refseq": "PC3 prostate cancer cell-secreted microprotein; prostate-associated microseminoprotein precursor; prostate-associated microseminoprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:692094)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "17338636;24442440;29059175;30459171;31813573;38796708", "class_list": "", "function": "Acts as a ligand for C-C chemokine receptor CCR2 (PubMed:24442440). Signals through binding and activation of CCR2 and induces a strong chemotactic response and mobilization of intracellular calcium ions (PubMed:24442440). Exhibits a chemotactic activity for monocytes and lymphocytes but not neutrophils (PubMed:24442440)., [UniProtKB, PubMed]; High MSMP expression is associated with drug-resistant prostate cancer., [RefSeq, PubMed]; PSMP/MSMP promotes hepatic fibrosis through CCR2 and represents a novel therapeutic target., [RefSeq, PubMed]; The novel potential therapeutic target PSMP/MSMP promotes acute kidney injury via CCR2., [RefSeq, PubMed]; These data collectively suggest that PSMP is a chemoattractant protein acting as a novel CCR2 ligand that may influence inflammation and cancer development., [RefSeq, PubMed]; This gene encodes a member of the beta-microseminoprotein family. Members of this protein family contain ten conserved cysteine residues that form intra-molecular disulfide bonds. The encoded protein may play a role in prostate cancer tumorigenesis. [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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0005125 cytokine activity;GO:0031727 CCR2 chemokine receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0006954 inflammatory response;GO:0048247 lymphocyte chemotaxis;GO:0002548 monocyte chemotaxis", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q1L6U9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2QL34-1", "uniprot_id": [ { "id": "MP17L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2QL34", "type": "external" } ], "mass": 22116.0, "length": 196, "protein_name": "Mpv17-like protein", "gene_name": "MPV17L", "organism": "Human", "refseq_name": "mpv17-like protein isoform 1", "refseq_ac": [ { "id": "NP_001121895", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121895", "type": "external" } ], "gene_names_uniprotkb": "MPV17L", "gene_names_refseq": "M-LPH1; M-LPH2; M-LPH; MLPH1; MLPH2; MPV17L1; MPV17L", "protein_names_uniprotkb": "Mpv17-like protein; M-LP homolog; M-LPH", "protein_names_refseq": "Human Mpv17-like protein; M-LP homolog; MPV17 mitochondrial membrane protein-like; Mpv17-like protein type 1; Mpv17-like protein type 2; mpv17-like protein isoform 1", "tax_id": 9606, "disease": "mitochondrial DNA depletion syndrome 3 (Disease Ontology:DOID:0080121); mitochondrial DNA depletion syndrome 6 (Disease Ontology:DOID:0080125); mitochondrial metabolism disease (Disease Ontology:DOID:700)", "pathway": " (hsa:255027)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;16631601;22306510;26165189;29393594;32387766;32621840;35051231", "class_list": "", "function": "Human Mpv17-like protein with a mitigating effect on mtDNA damage is involved in cAMP/PKA signaling in the mitochondrial matrix., [RefSeq, PubMed]; Participates in reactive oxygen species metabolism by up- or down-regulation of the genes of antioxidant enzymes (PubMed:16631601). Protective against the mitochondrial apoptotic cascade (PubMed:22306510)., [UniProtKB, PubMed, PubMed]; These observations suggest that M-LPH is involved in the maintenance of mtDNA and protects cells from mitochondrial dysfunction., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DDY1;Q6P7T6;Q8N8E9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane", "go_biological_process": "GO:0010730 negative regulation of hydrogen peroxide biosynthetic process;GO:1901029 negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;GO:0072593 reactive oxygen species metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q2QL34-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q495T6-1", "uniprot_id": [ { "id": "MMEL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q495T6", "type": "external" } ], "mass": 89367.0, "length": 779, "protein_name": "Membrane metallo-endopeptidase-like 1", "gene_name": "MMEL1", "organism": "Human", "refseq_name": "membrane metallo-endopeptidase-like 1", "refseq_ac": [ { "id": "NP_258428", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_258428", "type": "external" } ], "gene_names_uniprotkb": "MMEL1; MELL1; MMEL2; NEP2", "gene_names_refseq": "MMEL1; MMEL2; NEP2; NEPII; NL1; NL2; SEP", "protein_names_uniprotkb": "Membrane metallo-endopeptidase-like 1; 3.4.24.11; Membrane metallo-endopeptidase-like 2; NEP2(m); NEP2(s); NEP2; NEPII; NL2; Neprilysin II; Neprilysin-2 secreted; Neprilysin-2", "protein_names_refseq": "NEP2(m); membrane metallo-endopeptidase-like 1; membrane metallo-endopeptidase-like 2; neprilysin II; neprilysin-2; soluble secreted endopeptidase; zinc metallopeptidase", "tax_id": 9606, "disease": "heart conduction disease (Disease Ontology:DOID:10273)", "pathway": " (hsa:79258)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;11560781;18539150;18794853;25576301;26843707;26846903;27600516;31530632;31844290;31848261;33491520;33912179;33981976;35580925;36284347;8573078", "class_list": "", "function": "Investigating the association of polymorphisms of ANKRD55 and MMEL1 with susceptibility to multiple sclerosis in Iranian population., [RefSeq, PubMed]; MMEL1 518 Met/Thr polymorphism contributes to celiac disease risk among Saudi Arabians, both in single and also in synergistic cooperation with SH2B3 gene marker., [RefSeq, PubMed]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Metalloprotease involved in sperm function, possibly by modulating the processes of fertilization and early embryonic development. Degrades a broad variety of small peptides with a preference for peptides shorter than 3 kDa containing neutral bulky aliphatic or aromatic amino acid residues. Shares the same substrate specificity with MME and cleaves peptides at the same amide bond (By similarity)., [UniProtKB]; NEP2 substrate specificity and inhibitor binding was distinct from that of human NEP, suggesting that NEP and NEP2 play distinct physiological roles in humans., [RefSeq, PubMed]; The dynamic behavior of human NEP and NEP2 proteins was monitored by conducting molecular dynamics (MD) simulations., [RefSeq, PubMed]; The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family members play important roles in pain perception, arterial pressure regulation, phosphate metabolism and homeostasis. This protein is a type II transmembrane protein and is thought to be expressed as a secreted protein. This gene is expressed mainly in testis with weak expression in the brain, kidney, and heart. [provided by RefSeq, Jul 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 32, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B9DI79;Q495T7;Q495T8;Q5SZS6;Q96PH9", "ec_number_list": [], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0016485 protein processing", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q495T6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VWP3-3", "uniprot_id": [ { "id": "MLIP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VWP3", "type": "external" } ], "mass": 105914.0, "length": 993, "protein_name": "Muscular LMNA-interacting protein", "gene_name": "MLIP", "organism": "Human", "refseq_name": "muscular LMNA-interacting protein isoform 2", "refseq_ac": [ { "id": "NP_001268675", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001268675", "type": "external" } ], "gene_names_uniprotkb": "MLIP; C6orf142; Cip", "gene_names_refseq": "C6orf142; CIP; MLIP; MMCKR", "protein_names_uniprotkb": "Muscular LMNA-interacting protein; CIP; Cardiac Isl1-interacting protein; Muscular-enriched A-type laminin-interacting protein", "protein_names_refseq": "cardiac ISL1-interacting protein; muscle-enriched A-type lamin interacting protein; muscular LMNA-interacting protein isoform 2; muscular-enriched A-type laminin-interacting protein", "tax_id": 9606, "disease": "myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 (Disease Ontology:DOID:0061183)", "pathway": " (hsa:90523)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "21498514;23481700;25576301;26436652;27600516;29242379;32719146;33452295;34400329;34581780;34935254;35672413;35915960", "class_list": "", "function": "Cardiac CIP protein regulates dystrophic cardiomyopathy., [RefSeq, PubMed]; MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase., [RefSeq, PubMed]; MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension. Erratum:[Sci Rep. 2021 Apr 9;11(1):8237. doi: 10.1038/s41598-021-87653-6. PMID: 33837244] Publication Status: Online-Only, [RefSeq, PubMed]; Regulation of myonuclear positioning and muscle function by the skeletal muscle-specific CIP protein., [RefSeq, PubMed]; Required for myoblast differentiation into myotubes, possibly acting as a transcriptional regulator of the myogenic program (By similarity). Required for cardiac adaptation to stress through integrated regulation of the AKT/mTOR pathways and FOXO1. Regulates cardiac homeostasis and plays a role in the protection against cardiac hypertrophy (By similarity). Binds chromatin (By similarity). May act as a transcriptional cofactor for ISL1, repressing its transcriptional activity (By similarity). May also repress MYOCD transcriptional activity (By similarity)., [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": 2, "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": "B7Z2N0;D6RE05;Q96H08;Q96NF7", "ec_number_list": [], "go_molecular_function": "GO:0003714 transcription corepressor activity;GO:0005521 lamin binding", "go_cellular_component": "GO:0031981 nuclear lumen;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005829 cytosol;GO:0042383 sarcolemma", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:1903243 negative regulation of cardiac muscle hypertrophy in response to stress;GO:0010614 negative regulation of cardiac muscle hypertrophy", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q5VWP3-3", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P1R3-1", "uniprot_id": [ { "id": "MSD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P1R3", "type": "external" } ], "mass": 61319.0, "length": 559, "protein_name": "Myb/SANT-like DNA-binding domain-containing protein 2", "gene_name": "MSANTD2", "organism": "Human", "refseq_name": "myb/SANT-like DNA-binding domain-containing protein 2 isoform 3", "refseq_ac": [ { "id": "NP_001294956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001294956", "type": "external" } ], "gene_names_uniprotkb": "MSANTD2; C11orf61", "gene_names_refseq": "C11orf61; MSANTD2", "protein_names_uniprotkb": "Myb/SANT-like DNA-binding domain-containing protein 2", "protein_names_refseq": "Myb/SANT-like DNA-binding domain containing 2; myb/SANT-like DNA-binding domain-containing protein 2 isoform 3; myb/SANT-like DNA-binding domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79684)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;18220336;19240061;19690332;23186163;25218447;25418920;25755297;25772364;27543614;28832583;29242379;29393594;30429286;31844290;32157095;32387766;33091337;33912179;33968037;35051231;37211917;38253038", "class_list": "", "function": "LncRNA BCLET variant confers bladder cancer susceptibility through alternative splicing of MSANTD2 exon 1., [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": 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": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KRY6;Q9H042;Q9H5K8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q6P1R3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTX9-1", "uniprot_id": [ { "id": "MOT14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTX9", "type": "external" } ], "mass": 56254.0, "length": 510, "protein_name": "Monocarboxylate transporter 14", "gene_name": "SLC16A14", "organism": "Human", "refseq_name": "monocarboxylate transporter 14", "refseq_ac": [ { "id": "NP_689740", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689740", "type": "external" } ], "gene_names_uniprotkb": "SLC16A14; MCT14", "gene_names_refseq": "MCT14; SLC16A14", "protein_names_uniprotkb": "Monocarboxylate transporter 14; MCT 14; Solute carrier family 16 member 14", "protein_names_refseq": "MCT 14; monocarboxylate transporter 14; monocarboxylic acid transporter 14; solute carrier family 16 (monocarboxylic acid transporters), member 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:151473)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;12739169;25880248;27364523;28218747;29493099;29557506;30429286;31848261;32161166;32357974;33912179;34357683", "class_list": "", "function": "Proton-linked monocarboxylate transporter. May catalyze the transport of monocarboxylates across the plasma membrane., [UniProtKB]; Study presented a phylogenetic analysis revealing that Slc16a14 is closely related to Slc16a2, Slc16a9 and Slc16a10; provided a detailed expression analysis of Slc16a14 expression, finding widespread expression in the mouse brain and establishing its expression in neurons and epithelial cells. QRT-PCR on a panel of mouse tissues revealed high Slc16a14 expression in the kidney and moderate levels in the CNS. 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8KA08;Q53R92;Q96NI7", "ec_number_list": [], "go_molecular_function": "GO:0015293 symporter activity;GO:0008028 monocarboxylic acid transmembrane transporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:1905039 carboxylic acid transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q7RTX9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDS7-1", "uniprot_id": [ { "id": "MRGRD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDS7", "type": "external" } ], "mass": 36118.0, "length": 321, "protein_name": "Mas-related G protein-coupled receptor member D", "gene_name": "MRGPRD", "organism": "Human", "refseq_name": "mas-related G-protein coupled receptor member D", "refseq_ac": [ { "id": "NP_944605", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_944605", "type": "external" } ], "gene_names_uniprotkb": "MRGPRD; MRGD", "gene_names_refseq": "MRGD; MRGPRD; TGR7", "protein_names_uniprotkb": "Mas-related G protein-coupled receptor member D; Beta-alanine receptor; G protein-coupled receptor TGR7", "protein_names_refseq": "G-protein coupled receptor TGR7; MAS-related GPR, member D; beta-alanine receptor; mas-related G protein-coupled MRGD; mas-related G-protein coupled receptor member D", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930)", "pathway": " (hsa:116512); (R-HSA-375276)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11322507;11385580;11457843;11562423;11683476;11773063;12044878;12427552;12540846;12719537;1280419;12909716;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15037633;15139756;15539556;1567413;15947423;1655761;1710450;1710578;1719979;1722333;18127230;1847994;18636314;23091359;23446738;23690594;24906252;2649896;27496565;3202875;32387766;3366244;34171305;34948051;3525564;35840655;38338778;3856870;39580805;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Constitutive, Basal, and beta-Alanine-Mediated Activation of the Human Mas-Related G Protein-Coupled Receptor D Induces Release of the Inflammatory Cytokine IL-6 and Is Dependent on NF-kappaB Signaling. Publication Status: Online-Only, [RefSeq, PubMed]; G protein-coupled receptor that acts as a mediator of peripheral pain and itch sensations (PubMed:15037633, PubMed:23091359, PubMed:35840655, PubMed:39580805). Activated by various ligands, such as beta-alanine, beta-aminoisobutyrate, angiotensin 1-7, alamandine and allantoin, causing a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of downstream effectors (PubMed:15037633, PubMed:23091359, PubMed:35840655, PubMed:39580805). MRGPRD is both coupled to G(q) and G(i) G proteins: G(q) coupling activates phospholipase C-beta, releasing diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) second messengers, while G(i) coupling mediates inhibition of adenylate cyclase activity (PubMed:15037633, PubMed:23091359, PubMed:35840655, PubMed:39580805). MRGPRD is specifically expressed in neurons that innervate the epidermis and acts as a key mediator of skin stimuli, such as itch, pain and mechanical stimuli (By similarity). Required to maintain skin homeostasis in response to irritant dermatitis by initiating a signaling that promotes glutamate release, inhibiting mast cell hyperresponsiveness and skin inflammation (By similarity). Required to prevent cardiomyocyte hypertrophy following activation by alamandine, a decarboxylation product of angiotensin 1-7 (By similarity). Acts as a receptor for allantoin in dorsal root ganglion neurons, eliciting chronic itch (pruritus) (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Mas, MrgD, and MRG mediated Ang IV-stimulated AA release that was highest for Mas. While Ang III activated Mas and MrgX2, Ang II stimulated AA release via Mas and MRG., [RefSeq, PubMed]; The Expression of Alamandine Receptor MrgD in Clear Cell Renal Cell Carcinoma Is Associated with a Worse Prognosis and Unfavorable Response to Antiangiogenic Therapy. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q8NGK7", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008528 G protein-coupled peptide receptor activity", "go_cellular_component": "GO:0005615 extracellular space;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:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0002033 angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q8TDS7-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EF0-1", "uniprot_id": [ { "id": "MTMR8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EF0", "type": "external" } ], "mass": 78919.0, "length": 704, "protein_name": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR8", "gene_name": "MTMR8", "organism": "Human", "refseq_name": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR8", "refseq_ac": [ { "id": "NP_060147", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060147", "type": "external" } ], "gene_names_uniprotkb": "MTMR8", "gene_names_refseq": "MTMR8", "protein_names_uniprotkb": "Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR8; 3.1.3.95; Myotubularin-related protein 8; Phosphatidylinositol-3-phosphate phosphatase", "protein_names_refseq": "phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR8; phosphatidylinositol-3,5-bisphosphate 3-phosphatase; phosphatidylinositol-3-phosphate phosphatase", "tax_id": 9606, "disease": "centronuclear myopathy X-linked (Disease Ontology:DOID:0111225); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); centronuclear myopathy (Disease Ontology:DOID:14717)", "pathway": " (hsa:55613); (R-HSA-1660499)", "pathway_count": 2, "publication_count": 105, "publication_id_list": "10194451;10224048;10555148;10559940;10593988;10753883;10805725;10822173;11001876;11084340;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;16787938;16914545;16959974;16979564;17008356;17245604;17651088;18093523;18753295;19038970;19896968;20534812;21204784;22037487;22647598;23519112;23758345;24282552;25495341;26143924;26154972;26992070;27846572;28904123;29242379;29437277;29493099;29557506;30379171;30429286;31092671;31217245;31844290;32157095;32357974;32387766;32502341;32897882;33298915;33912179;33968037;34932366;35051231;35580925;36010968;7608176;7624799;8681945;8723348;8769125;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "East African population that gave rise to non-Africans underwent a selective sweep affecting the subcentromeric region where MTMR8 is located Publication Status: Online-Only, [RefSeq, PubMed]; Here, the crystal structure of the phosphatase domain of MTMR8 is reported., [RefSeq, PubMed]; Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate (PubMed:22647598, PubMed:26143924). In complex with MTMR9, negatively regulates autophagy (PubMed:22647598)., [UniProtKB, PubMed, PubMed]; This gene encodes a member of the myotubularin-related family and is part of the MTMR6 subgroup. Family members are dual-specificity phosphatases and the encoded protein contains a phosphoinositide-binding domain (PID) and a SET-interacting domain (SID). Defects in other family members have been found in myotubular myopathic diseases. [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": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 17, "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": "Q5JT99;Q9NXP6", "ec_number_list": [ { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.95", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.95", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.64", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" } ], "go_molecular_function": "GO:0106018 phosphatidylinositol-3,5-bisphosphate phosphatase activity;GO:0004438 phosphatidylinositol-3-phosphate phosphatase activity;GO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "GO:0016241 regulation of macroautophagy;GO:0010507 negative regulation of autophagy;GO:0046856 phosphatidylinositol dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q96EF0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HJ5-1", "uniprot_id": [ { "id": "MS4A3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HJ5", "type": "external" } ], "mass": 22933.0, "length": 214, "protein_name": "Membrane-spanning 4-domains subfamily A member 3", "gene_name": "MS4A3", "organism": "Human", "refseq_name": "membrane-spanning 4-domains subfamily A member 3 isoform c", "refseq_ac": [ { "id": "NP_001026836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026836", "type": "external" } ], "gene_names_uniprotkb": "MS4A3; CD20L; HTM4", "gene_names_refseq": "CD20L; HTM4; MS4A3", "protein_names_uniprotkb": "Membrane-spanning 4-domains subfamily A member 3; CD20 antigen-like protein; HTm4; Hematopoietic-specific transmembrane protein 4", "protein_names_refseq": "CD20 antigen homolog; CD20 antigen-like protein; IgE receptor beta chain; IgE receptor beta subunit; hematopoietic cell 4 transmembrane protein; hematopoietic-specific transmembrane protein 4; membrane-spanning 4-domains subfamily A member 3 isoform c; membrane-spanning 4-domains subfamily A member 3; membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)", "tax_id": 9606, "disease": "", "pathway": " (hsa:932); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "11237011;11781350;15671017;23650620;25886616;27579896;29274779;29557506;32387766;32983136;34171305;34780648;7524084;8692836", "class_list": "", "function": "A 7-gene signature was identified which correctly predicted the primary prefibrotic myelofibrosis group with a sensitivity of 100% and a specificity of 89%. The 7 genes included MPO, CEACAM8, CRISP3, MS4A3, CEACAM6, HEMGN, and MMP8 Publication Status: Online-Only, [RefSeq, PubMed]; HTm4 binding to KAP.Cdk2.cyclin A complex enhances the phosphatase activity of KAP, dissociates cyclin A, and facilitates KAP dephosphorylation of Cdk2, [RefSeq, PubMed]; Hematopoietic modulator for the G1-S cell cycle transition. Modulates the level of phosphorylation of cyclin-dependent kinase 2 (CDK2) through its direct binding to cyclin-dependent kinase inhibitor 3 (CDKN3/KAP)., [UniProtKB, PubMed]; MS4A3 promotes differentiation in chronic myeloid leukemia by enhancing common beta-chain cytokine receptor endocytosis., [RefSeq, PubMed]; Our data reveal MS4A3 as a novel direct target of EVI1 in human myeloid cells, and show that its repression plays a role in EVI1 mediated tumor aggressiveness. Publication Status: Online-Only, [RefSeq, PubMed]; These results suggest that cell surface expression of MS4A3 is useful to distinguish granulocyte/macrophage lineage-committed progenitors from other lineage-related ones in early human hematopoiesis. In conclusion, MS4A3 is useful to monitor early stage of myeloid differentiation in human hematopoiesis., [RefSeq, PubMed]; This gene encodes a member of the membrane-spanning 4A gene family. Members of this protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This family member likely plays a role in signal transduction and may function as a subunit associated with receptor complexes. The gene encoding this protein is localized to 11q12, among a cluster of related family members. Alternative splicing may result in multiple 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A8MTP8;Q8NHW2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q96HJ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZW8-1", "uniprot_id": [ { "id": "MS4A7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZW8", "type": "external" } ], "mass": 26131.0, "length": 240, "protein_name": "Membrane-spanning 4-domains subfamily A member 7", "gene_name": "MS4A7", "organism": "Human", "refseq_name": "membrane-spanning 4-domains subfamily A member 7 isoform 1", "refseq_ac": [ { "id": "NP_067024", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067024", "type": "external" } ], "gene_names_uniprotkb": "MS4A7; 4SPAN2; CD20L4; CFFM4", "gene_names_refseq": "4SPAN2; CD20L4; CFFM4; MS4A7; MS4A8", "protein_names_uniprotkb": "Membrane-spanning 4-domains subfamily A member 7; CD20 antigen-like 4; CD20/FC-epsilon-RI-beta family member 4; Four-span transmembrane protein 2", "protein_names_refseq": "CD20 antigen-like 4; CD20/Fc-epsilon-RI-beta family member 4; four-span transmembrane protein 2; high affinity immunoglobulin epsilon receptor beta subunit; membrane-spanning 4-domains subfamily A member 7 isoform 1; membrane-spanning 4-domains subfamily A member 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:58475)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;11245982;11401424;11685457;25576301;25892735;28467828;28832583;29242379;29493099;29557506;29786170;30315122;30429286;30524438;31154438;31217245;32157095;32350084;32387766;32983136;33392160;33912179;34509645;35051231;35580925;36284347;36944954;37938771;38478630", "class_list": "", "function": "Hepatic danger signaling triggers TREM2[+] macrophage induction and drives steatohepatitis via MS4A7-dependent inflammasome activation., [RefSeq, PubMed]; May be involved in signal transduction as a component of a multimeric receptor complex., [UniProtKB]; The short isoform of MS4A7 is a novel player in glioblastoma microenvironment, M2 macrophage polarization, and tumor progression. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "A6NP53;Q6IAG8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005802 trans-Golgi network;GO:0016020 membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9GZW8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H306-1", "uniprot_id": [ { "id": "MMP27_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H306", "type": "external" } ], "mass": 59026.0, "length": 513, "protein_name": "Matrix metalloproteinase-27", "gene_name": "MMP27", "organism": "Human", "refseq_name": "matrix metalloproteinase-27 precursor", "refseq_ac": [ { "id": "NP_071405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071405", "type": "external" } ], "gene_names_uniprotkb": "MMP27; PRO5992", "gene_names_refseq": "MMP-27; MMP27", "protein_names_uniprotkb": "Matrix metalloproteinase-27; 3.4.24.-; MMP-27", "protein_names_refseq": "matrix metalloprotease 27; matrix metalloproteinase-27 precursor; matrix metalloproteinase-27", "tax_id": 9606, "disease": "", "pathway": " (hsa:64066)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10.1101/2023.09.13.557529;12975309;14506071;19913121;20484597;20628086;24548619;24810263;25576301;31067818", "class_list": "", "function": "MMP-27 is efficiently retained within the ER due to its unique CTE, which does not lead to stable membrane insertion. This could represent a novel ER retention system, [RefSeq, PubMed]; MMP-27 is expressed in a subset of endometrial macrophages related to menstruation and in ovarian and peritoneal endometriotic lesions., [RefSeq, PubMed]; Matrix metalloproteinases degrade protein components of the extracellular matrix such as fibronectin, laminin, gelatins and/or collagens., [UniProtKB]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. [provided by RefSeq, Jul 2008]., [RefSeq]; Two polymorphisms of MMP-8 and MMP-27 were significantly associated with recurrent pregnancy loss (RPL) risk, both individually and in combination. Therefore, these two polymorphisms are potential biomarkers for RPL susceptibility. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6UWK6", "ec_number_list": [], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0031012 extracellular matrix", "go_biological_process": "GO:0006508 proteolysis;GO:0030198 extracellular matrix organization;GO:0030574 collagen catabolic process", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9H306-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4K7-1", "uniprot_id": [ { "id": "MTG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4K7", "type": "external" } ], "mass": 43955.0, "length": 406, "protein_name": "Mitochondrial ribosome-associated GTPase 2", "gene_name": "MTG2", "organism": "Human", "refseq_name": "mitochondrial ribosome-associated GTPase 2 isoform 2", "refseq_ac": [ { "id": "NP_056481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056481", "type": "external" } ], "gene_names_uniprotkb": "MTG2; GTPBP5; OBGH1", "gene_names_refseq": "GTPBP5; MTG2; ObgH1; dJ1005F21.2", "protein_names_uniprotkb": "Mitochondrial ribosome-associated GTPase 2; GTP-binding protein 5; ObgH1; Protein obg homolog 1", "protein_names_refseq": "GTP binding protein 5 (putative); GTP-binding protein 5; mitochondrial ribosome-associated GTPase 2 isoform 2; protein obg homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:26164)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;17054726;17322306;20877624;21608104;23396448;24366607;25505266;25576301;26992070;27920218;28834231;28904123;29557506;30524438;31217245;31844290;32157095;32357974;33283228;33298915;34561969;35051231", "class_list": "", "function": "GTPBP5 bears further study as a cause of TEF/EA accompanied by other malformations., [RefSeq, PubMed]; Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly., [RefSeq, PubMed]; Knock-down of ObgH1 by RNAi induced mitochondria elongation, whereas knock-down of ObgH2 resulted in the disorganization of the nucleolar architecture., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays GTPase activity. Involved in the ribosome maturation process., [UniProtKB, PubMed, PubMed]; Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A6NDR3;B4DR85;Q96I17;Q9NVG9;Q9UFR4", "ec_number_list": [], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0005761 mitochondrial ribosome", "go_biological_process": "GO:0070129 regulation of mitochondrial translation;GO:0044065 regulation of respiratory system process;GO:1902775 mitochondrial large ribosomal subunit assembly;GO:0042254 ribosome biogenesis", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9H4K7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPA2-1", "uniprot_id": [ { "id": "MMP25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPA2", "type": "external" } ], "mass": 62554.0, "length": 562, "protein_name": "Matrix metalloproteinase-25", "gene_name": "MMP25", "organism": "Human", "refseq_name": "matrix metalloproteinase-25 preproprotein", "refseq_ac": [ { "id": "NP_071913", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071913", "type": "external" } ], "gene_names_uniprotkb": "MMP25; MMP20; MMPL1; MT6MMP", "gene_names_refseq": "MMP-25; MMP20A; MMP20; MMP25; MMPL1; MT-MMP 6; MT-MMP6; MT6-MMP; MT6MMP; MTMMP6", "protein_names_uniprotkb": "Matrix metalloproteinase-25; 3.4.24.-; Leukolysin; MMP-25; MT-MMP 6; MT6-MMP; MT6MMP; MTMMP6; Membrane-type matrix metalloproteinase 6; Membrane-type-6 matrix metalloproteinase", "protein_names_refseq": "leukolysin; matrix metallopeptidase-like 1; matrix metalloproteinase 20; matrix metalloproteinase-25 preproprotein; matrix metalloproteinase-25; matrix metalloproteinase-like 1; membrane-type 6 matrix metalloproteinase; membrane-type matrix metalloproteinase 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:64386); (R-HSA-1592389); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "10628838;10706098;11034316;11237011;11830519;1311314;1371271;1390635;1480033;1783204;2159879;2169257;2176865;2269296;23650620;2383557;23851692;24642384;24669030;2546891;2551898;2557753;27862975;28832583;29242379;30459171;3058116;34171305;35051231;35580925;36215666;36284347;37986083;38310435;4216367;6263256;7669817;7746327;7780967;7826345;7890645;7896811;7981201;8015608;8194591;8314771;8530478;8576151;8621565;8645182;8663255;8692836;8804434;9261109;9346290;9422744;9578462;9632662", "class_list": "", "function": "Association of MMP3, MMP14, and MMP25 gene polymorphisms with cerebral stroke risk: a case-control study. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated Plasma Levels of MT4-MMP and MT6-MMP; A New Observation in Patients with Thyroid Nodules. Publication Status: Online-Only, [RefSeq, PubMed]; IL-2-upregulated MT6 cell-surface expression correlates with CD16 downmodulation. MT6, sequestered in intracellular compartments in unstimulated NK cells, translocates to the effector-target cell interface of CD16-mediated immunological synapses., [RefSeq, PubMed]; In absolute mRNA levels, significant differences were found in expression of MMP2, MMP24, and MMP25 in gastric carcinoma compared with superficial gastritis., [RefSeq, PubMed]; May activate progelatinase A., [UniProtKB]; Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMPs are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily, attached to the plasma membrane via a glycosylphosphatidyl inositol anchor. In response to bacterial infection or inflammation, the encoded protein is thought to inactivate alpha-1 proteinase inhibitor, a major tissue protectant against proteolytic enzymes released by activated neutrophils, facilitating the transendothelial migration of neutrophils to inflammatory sites. The encoded protein may also play a role in tumor invasion and metastasis through activation of MMP2. The gene has previously been referred to as MMP20 but has been renamed MMP25. [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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DUA8;Q9H3Q0", "ec_number_list": [ { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "1.14.19.17", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.17", "type": "external" }, { "id": "5.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.-", "type": "external" }, { "id": "2.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.20", "type": "external" }, { "id": "2.3.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.76", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.4.21.73", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.73", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "3.4.21.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75", "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": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "3.4.24.80", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.80", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.78", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031012 extracellular matrix;GO:0035579 specific granule membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0006954 inflammatory response;GO:0030198 extracellular matrix organization;GO:0030574 collagen catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9NPA2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZB8-1", "uniprot_id": [ { "id": "MOCS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZB8", "type": "external" } ], "mass": 70105.0, "length": 636, "protein_name": "Molybdenum cofactor biosynthesis protein 1", "gene_name": "MOCS1", "organism": "Human", "refseq_name": "molybdenum cofactor biosynthesis protein 1 isoform 4", "refseq_ac": [ { "id": "NP_001068566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001068566", "type": "external" } ], "gene_names_uniprotkb": "MOCS1; MIG11", "gene_names_refseq": "MIG11; MOCOD; MOCS1A; MOCS1B; MOCS1", "protein_names_uniprotkb": "Molybdenum cofactor biosynthesis protein 1; Cell migration-inducing gene 11 protein; MOCS1A; MOCS1B; Molybdenum cofactor biosynthesis protein A; Molybdenum cofactor biosynthesis protein C; Molybdenum cofactor synthesis-step 1 protein A-B", "protein_names_refseq": "MOCS1A enzyme; cell migration-inducing gene 11 protein; molybdenum cofactor biosynthesis protein 1 isoform 4; molybdenum cofactor biosynthesis protein 1; molybdenum cofactor biosynthesis protein A; molybdenum cofactor synthesis-step 1 protein A-B", "tax_id": 9606, "disease": "molybdenum cofactor deficiency type A (Disease Ontology:DOID:0111164); molybdenum cofactor deficiency (Disease Ontology:DOID:0111165)", "pathway": " (hsa:4337)", "pathway_count": 1, "publication_count": 40, "publication_id_list": "10917590;11237011;11891227;12208140;12754701;15180982;16021469;16429380;17065069;19544009;19608861;19793632;20573177;21031595;21907887;22987873;23186163;23627491;25697423;26992070;27289259;29368224;29557506;30695801;31477743;31844290;31996372;32014857;32099439;32387766;32938616;33552910;33968037;35580925;38389347;38463082;38808412;39488078;9731530;9921896", "class_list": "", "function": "Alternative splicing of the bicistronic gene molybdenum cofactor synthesis 1 (MOCS1) uncovers a novel mitochondrial protein maturation mechanism., [RefSeq, PubMed]; ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]; Has very weak catalytic activity., [UniProtKB, PubMed]; Isoform MOCS1A and isoform MOCS1B probably form a complex that catalyzes the conversion of 5'-GTP to cyclic pyranopterin monophosphate (cPMP). MOCS1A catalyzes the cyclization of GTP to (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate and MOCS1B catalyzes the subsequent conversion of (8S)-3',8-cyclo-7,8-dihydroguanosine 5'-triphosphate to cPMP., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum. The protein encoded by this gene is involved in this pathway. This gene was originally thought to produce a bicistronic mRNA with the potential to produce two proteins (MOCS1A and MOCS1B) from adjacent open reading frames. However, only the first open reading frame (MOCS1A) has been found to encode a protein from the putative bicistronic mRNA, whereas additional splice variants are likely to produce a fusion between the two open reading frames. This gene is defective in patients with molybdenum cofactor deficiency, type A. A related pseudogene has been identified on chromosome 16. [provided by RefSeq, Nov 2017]., [RefSeq]; New Neuroimaging Findings in Patients with Molybdenum Cofactor Deficiency Type A: A Case Report and Literature Review. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "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": "B3KPT7;B4DTP1;O14940;O14941;O75710;Q5J7W0;Q5TCE1;Q5TCE2;Q5TCE6;Q5TCE9;Q5TCF0;Q5TCF1;Q8N418;Q9NZB7;Q9UEM1", "ec_number_list": [ { "id": "4.1.99.22", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.99.22", "type": "external" }, { "id": "4.6.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:4.6.1.17", "type": "external" } ], "go_molecular_function": "GO:0061798 GTP 3',8'-cyclase activity;GO:0061799 cyclic pyranopterin monophosphate synthase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol", "go_biological_process": "GO:0006777 Mo-molybdopterin cofactor biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9NZB8-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJG1-1", "uniprot_id": [ { "id": "MSPD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJG1", "type": "external" } ], "mass": 24086.0, "length": 213, "protein_name": "Motile sperm domain-containing protein 1", "gene_name": "MOSPD1", "organism": "Human", "refseq_name": "motile sperm domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001293117", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293117", "type": "external" } ], "gene_names_uniprotkb": "MOSPD1", "gene_names_refseq": "DJ473B4; MOSPD1", "protein_names_uniprotkb": "Motile sperm domain-containing protein 1", "protein_names_refseq": "motile sperm domain-containing protein 1 isoform 2; motile sperm domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56180)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "16959974;25576301;26154972;26175344;26288249;27846572;28636109;31530632;31844290;32161166;33296653;33592498;33912179;33968037;35580925;36010968", "class_list": "", "function": "Human VAPome Analysis Reveals MOSPD1 and MOSPD3 as Membrane Contact Site Proteins Interacting with FFAT-Related FFNT Motifs. Erratum:[Cell Rep. 2023 Jul 25;42(7):112849. doi: 10.1016/j.celrep.2023.112849. PMID: 37440407], [RefSeq, PubMed]; MOSPD1 is a possible candidate gene for DORV, probably in combination with GPC3. Further studies of the combined functions of MOSPD1 and GPC3 are needed, and identification of additional patients with MOSPD1 and GPC3 duplication should be pursued, [RefSeq, PubMed]; Our in vitro studies were supported by RNA-sequencing data that confirmed expression of Mospd1 mRNA in cultured, proliferating perivascular pre-MSCs isolated from human tissue, [RefSeq, PubMed]; Plays a role in differentiation and/or proliferation of mesenchymal stem cells. Proposed to be involved in epithelial-to-mesenchymal transition (EMT). However, another study suggests that it is not required for EMT or stem cell self-renewal and acts during later stages of differentiation., [UniProtKB, UniProtKB]; Results from a study on gene expression variability markers in early-stage human embryos shows that MOSPD1 is a putative marker for the 3-day, 8-cell embryo stage. 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": "B2RE62;D3DTG5;Q5H9C5;Q5H9C7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0000122 negative 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": 1.7, "record_id": "Q9UJG1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5R2-1", "uniprot_id": [ { "id": "MMP24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5R2", "type": "external" } ], "mass": 73231.0, "length": 645, "protein_name": "Matrix metalloproteinase-24", "gene_name": "MMP24", "organism": "Human", "refseq_name": "matrix metalloproteinase-24 preproprotein", "refseq_ac": [ { "id": "NP_006681", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006681", "type": "external" } ], "gene_names_uniprotkb": "MMP24; MT5MMP", "gene_names_refseq": "MMP-24; MMP24; MMP25; MT-MMP 5; MT-MMP5; MT5-MMP; MT5MMP; MTMMP5", "protein_names_uniprotkb": "Matrix metalloproteinase-24; 3.4.24.-; MMP-24; MT-MMP 5; MT5-MMP; MT5MMP; MTMMP5; Membrane-type matrix metalloproteinase 5; Membrane-type-5 matrix metalloproteinase", "protein_names_refseq": "matrix metallopeptidase 24 (membrane-inserted); matrix metalloproteinase 24 (membrane-inserted); matrix metalloproteinase-24 preproprotein; matrix metalloproteinase-24; membrane-type 5 matrix metalloproteinase; membrane-type matrix metalloproteinase 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:10893); (R-HSA-1592389)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10363975;11830519;1311314;1371271;1390635;1480033;1783204;2159879;2169257;2176865;2269296;2383557;2546891;2551898;2557753;29557506;3058116;34117802;34359875;35051231;35062057;36284347;38216110;4216367;6263256;7669817;7746327;7780967;7826345;7890645;7896811;7981201;8015608;8194591;8314771;8530478;8576151;8621565;8645182;8663255;8804434;9261109;9346290;9422744;9578462;9632662", "class_list": "", "function": "Changes in the expression of membrane type-matrix metalloproteinases genes (MMP14, MMP15, MMP16, MMP24) during treatment and their potential impact on the survival of patients with non-small cell lung cancer (NSCLC)., [RefSeq, PubMed]; Deficiency in MT5-MMP Supports Branching of Human iPSCs-Derived Neurons and Reduces Expression of GLAST/S100 in iPSCs-Derived Astrocytes. Publication Status: Online-Only, [RefSeq, PubMed]; MT5-MMP controls APP and beta-CTF/C99 metabolism through proteolytic-dependent and -independent mechanisms relevant for Alzheimer's disease., [RefSeq, PubMed]; Metalloprotease that mediates cleavage of N-cadherin (CDH2) and acts as a regulator of neuro-immune interactions and neural stem cell quiescence. Involved in cell-cell interactions between nociceptive neurites and mast cells, possibly by mediating cleavage of CDH2, thereby acting as a mediator of peripheral thermal nociception and inflammatory hyperalgesia. Key regulator of neural stem cells quiescence by mediating cleavage of CDH2, affecting CDH2-mediated anchorage of neural stem cells to ependymocytes in the adult subependymal zone, leading to modulate their quiescence. May play a role in axonal growth. Able to activate progelatinase A. May also be a proteoglycanase involved in degradation of proteoglycans, such as dermatan sulfate and chondroitin sulfate proteoglycans. Cleaves partially fibronectin, but not collagen type I, nor laminin (By similarity)., [UniProtKB]; PCSK6 exacerbates Alzheimer's disease pathogenesis by promoting MT5-MMP maturation., [RefSeq, PubMed]; This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. Unlike most MMPs, which are secreted, this protease is a member of the membrane-type MMP (MT-MMP) subfamily, contains a transmembrane domain and is expressed at the cell surface. Substrates of this protease include the proteins cadherin 2 and matrix metallopeptidase 2 (also known as 72 kDa type IV collagenase). The gene has previously been referred to as MMP25 but has been renamed matrix metallopeptidase 24 (MMP24). [provided by RefSeq, Oct 2019]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B7ZBG8;Q9H440", "ec_number_list": [ { "id": "3.4.21.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75", "type": "external" }, { "id": "3.4.24.80", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.80", "type": "external" }, { "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:0008047 enzyme activator activity;GO:0008270 zinc ion binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0032588 trans-Golgi network membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006508 proteolysis;GO:0030198 extracellular matrix organization;GO:0050965 detection of temperature stimulus involved in sensory perception of pain;GO:0098609 cell-cell adhesion;GO:0030574 collagen catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q9Y5R2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EH8-1", "uniprot_id": [ { "id": "NEUL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EH8", "type": "external" } ], "mass": 28789.0, "length": 262, "protein_name": "E3 ubiquitin-protein ligase NEURL3", "gene_name": "NEURL3", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase NEURL3 isoform a", "refseq_ac": [ { "id": "NP_001272414", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001272414", "type": "external" } ], "gene_names_uniprotkb": "NEURL3; LINCR", "gene_names_refseq": "LINCR; NEURL3; RNF132", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase NEURL3; 2.3.2.27; Lung-inducible neuralized-related C3CH4 RING domain protein; Neuralized-like protein 3; RING-type E3 ubiquitin transferase NEURL3", "protein_names_refseq": "E3 ubiquitin-protein ligase NEURL3 isoform a; E3 ubiquitin-protein ligase NEURL3; RING-type E3 ubiquitin transferase NEURL3; lung-inducible neuralized-related C3CH4 RING domain protein; neuralized homolog 3 pseudogene; neuralized-like protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:93082)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;23481700;25576301;28467828;29242379;30111563;32983136;34433824;35051231;35792897;38191501;38667302", "class_list": "", "function": "E3 ubiquitin ligase., [UniProtKB, UniProtKB]; E3 ubiquitin-protein ligase that plays a role in various biological processes such as lung development or innate immunity (PubMed:30111563). Seems to utilize UBE2E1. Promotes innate antiviral response by catalyzing 'Lys-63'-linked ubiquitination of IRF7 (PubMed:35792897). Also inhibits hepatitis C virus assembly by directly binding to viral E1 envelope glycoprotein to disrupt its interaction with E2 (PubMed:30111563). Plays an essential role in TLR4-mediated activation of MAPK pathways by promoting 'Lys-48'-linked polyubiquitination of the phosphatase DUSP1/MKP1 (PubMed:38667302)., [UniProtKB, PubMed, PubMed, PubMed]; The E3 ligase NEURL3 suppresses epithelial-mesenchymal transition and metastasis in nasopharyngeal carcinoma by promoting vimentin 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": 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:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005769 early endosome", "go_biological_process": "GO:0045087 innate immune response;GO:0016567 protein ubiquitination;GO:1901800 positive regulation of proteasomal protein catabolic process;GO:0070086 ubiquitin-dependent endocytosis", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q96EH8-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MQ27-1", "uniprot_id": [ { "id": "NEU1B_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MQ27", "type": "external" } ], "mass": 59270.0, "length": 555, "protein_name": "E3 ubiquitin-protein ligase NEURL1B", "gene_name": "NEURL1B", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase NEURL1B isoform hNEUR2", "refseq_ac": [ { "id": "NP_001136123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136123", "type": "external" } ], "gene_names_uniprotkb": "NEURL1B; NEURL3", "gene_names_refseq": "NEURL1B; RNF67B; hNeur2; neur2", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase NEURL1B; 2.3.2.27; NEUR2; Neuralized-2; Neuralized-like protein 1B; Neuralized-like protein 3; RING-type E3 ubiquitin transferase NEURL1B", "protein_names_refseq": "E3 ubiquitin-protein ligase NEURL1B isoform hNEUR2; E3 ubiquitin-protein ligase NEURL1B; RING-type E3 ubiquitin transferase NEURL1B; neuralized 2 alternative protein; neuralized homolog 1B; neuralized-2; neuralized-like protein 1B", "tax_id": 9606, "disease": "", "pathway": " (hsa:54492); (R-HSA-2122948); (R-HSA-2644606); (R-HSA-2691232); (R-HSA-2894862); (R-HSA-2979096); (R-HSA-9013507)", "pathway_count": 7, "publication_count": 113, "publication_id_list": "10079256;10206645;10551863;10713164;10879540;10882063;10934472;10958687;10964718;11006133;11044625;11171333;11226752;11518718;11740940;11823422;11861489;12050117;12209127;12354787;12391150;12530964;14567914;14980219;15107403;15533827;15546612;15569487;15574878;15652348;15760269;15824097;15829515;15965470;16093323;16284625;16530044;16738328;16773578;17003037;17028573;17114293;17401372;17646408;17646409;18043734;18077452;18237417;18296446;18374649;1840698;18418349;18469519;18628966;18700817;18824583;18824585;19000840;19151708;19208840;19524514;19567869;19723503;19726682;20156974;20972443;21632553;22162134;22658935;22658936;24275569;24842903;25125655;25356737;25576301;25645385;27862975;29242379;29557506;29786170;29856954;29856955;30524438;31154438;3153318;31844290;31848261;32157095;32161166;32387766;33392160;33936100;34087483;35051231;35580925;37217939;37938771;7566092;7588063;803282;8313469;9207787;9207788;9244301;9315665;9384573;9462510;9590294;9604939;9620803;9651681;9694793;9819428", "class_list": "", "function": "E3 ubiquitin-protein ligase involved in regulation of the Notch pathway through influencing the stability and activity of several Notch ligands., [UniProtKB, PubMed]; Neur2, in contrast to Neur1, is highly expressed during embryonic development of the brain and several non-neural tissues and its mRNA levels subside postnatally., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "C9DQJ5;C9DQJ6;C9DQJ7", "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:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol", "go_biological_process": "GO:0007219 Notch signaling pathway;GO:0016567 protein ubiquitination;GO:0070086 ubiquitin-dependent endocytosis", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "A8MQ27-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BYT8-1", "uniprot_id": [ { "id": "NEUL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BYT8", "type": "external" } ], "mass": 80652.0, "length": 704, "protein_name": "Neurolysin, mitochondrial", "gene_name": "NLN", "organism": "Human", "refseq_name": "neurolysin, mitochondrial", "refseq_ac": [ { "id": "NP_065777", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065777", "type": "external" } ], "gene_names_uniprotkb": "NLN; AGTBP; KIAA1226", "gene_names_refseq": "AGTBP; EP24.16; MEP; MOP; NLN", "protein_names_uniprotkb": "Neurolysin, mitochondrial; 3.4.24.16; Angiotensin-binding protein; MEP; Microsomal endopeptidase; Mitochondrial oligopeptidase M; Neurotensin endopeptidase", "protein_names_refseq": "angiotensin binding protein; endopeptidase 24.16; microsomal endopeptidase; mitochondrial oligopeptidase M; neurolysin (metallopeptidase M3 family); neurolysin, mitochondrial; neurotensin endopeptidase", "tax_id": 9606, "disease": "", "pathway": " (hsa:57486); (R-HSA-375276)", "pathway_count": 2, "publication_count": 158, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11237011;11322507;11385580;11457843;11562423;11683476;11773063;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;1655761;1710450;1710578;1719979;1722333;18127230;1847994;18669648;19608861;19664994;20068231;23446738;23690594;24906252;25418920;25576301;25645385;25880248;25892735;26154972;2649896;26768311;26992070;27496565;27846572;28218747;28228285;28510447;28649982;28832583;28834231;28904123;29183787;29242379;29393594;29437277;29508533;29557506;29769354;29786170;30315122;30379171;30833945;31844290;3202875;32157095;32269163;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33537174;33592498;3366244;33691108;33717175;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34509645;34932366;35051231;3525564;35318648;35580925;36010968;36215666;36241641;36581221;37938771;3856870;38665916;39117724;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Hydrolyzes oligopeptides such as neurotensin, bradykinin and dynorphin A (By similarity). Acts as a regulator of cannabinoid signaling pathway by mediating degradation of hemopressin, an antagonist peptide of the cannabinoid receptor CNR1 (By similarity)., [UniProtKB, UniProtKB]; Hydrolyzes oligopeptides such as neurotensin, bradykinin and dynorphin A. Acts as a regulator of cannabinoid signaling pathway by mediating degradation of hemopressin, an antagonist peptide of the cannabinoid receptor CNR1., [UniProtKB, UniProtKB, UniProtKB]; Structural basis of divergent substrate recognition and inhibition of human neurolysin. Publication Status: Online-Only, [RefSeq, PubMed]; The crystal structure of human neurolysin(E475Q) in complex with the products of neurotensin cleavage at 2.7A revealed a closed conformation with an internal cavity that restricts substrate length and highlighted the mechanism of enzyme opening/closing that is necessary for substrate binding and catalytic activity., [RefSeq, PubMed]; The mitochondrial peptidase, neurolysin, regulates respiratory chain supercomplex formation and is necessary for AML viability., [RefSeq, PubMed]; This gene encodes a member of the metallopeptidase M3 protein family that cleaves neurotensin at the Pro10-Tyr11 bond, leading to the formation of neurotensin(1-10) and neurotensin(11-13). The encoded protein is likely involved in the termination of the neurotensinergic signal in the central nervous system and in the gastrointestinal tract.[provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9ULJ4", "ec_number_list": [ { "id": "3.4.24.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.16", "type": "external" } ], "go_molecular_function": "GO:0004222 metalloendopeptidase activity;GO:0046872 metal ion binding;GO:0042277 peptide binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 16.1, "record_id": "Q9BYT8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BR09-1", "uniprot_id": [ { "id": "NEUL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BR09", "type": "external" } ], "mass": 31690.0, "length": 285, "protein_name": "Neuralized-like protein 2", "gene_name": "NEURL2", "organism": "Human", "refseq_name": "neuralized-like protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001265464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265464", "type": "external" } ], "gene_names_uniprotkb": "NEURL2; C20orf163", "gene_names_refseq": "C20orf163; NEURL2; OZZ-E3; OZZ", "protein_names_uniprotkb": "Neuralized-like protein 2", "protein_names_refseq": "neuralized homolog 2; neuralized-like protein 2 isoform 2; neuralized-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:140825); (R-HSA-8951664)", "pathway_count": 2, "publication_count": 114, "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;14960280;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;19472918;19617556;19748355;20112406;21447816;21463634;21778237;21863050;21940857;22306028;22466964;22537386;22959436;23201271;23333871;23401859;23453757;23481700;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;32005965;32284348;32938616;33444648;34509645;39894887;9790970;9887101;9891082", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Plays an important role in the process of myofiber differentiation and maturation. Probable substrate-recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex, which mediates the ubiquitination of proteins. Probably contributes to catalysis through recognition and positioning of the substrate and the ubiquitin-conjugating enzyme. During myogenesis, controls the ubiquitination and degradation of the specific pool of CTNNB1/beta-catenin located at the sarcolemma (By similarity)., [UniProtKB]; This gene encodes a protein that is involved in the regulation of myofibril organization. This protein is likely the adaptor component of the E3 ubiquitin ligase complex in striated muscle, and it regulates the ubiquitin-mediated degradation of beta-catenin during myogenesis. Alternative splicing of this gene results in multiple transcript variants. [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": 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": "Q3KR34", "ec_number_list": [], "go_molecular_function": "GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0016567 protein ubiquitination;GO:0030239 myofibril assembly", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q9BR09-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N159-1", "uniprot_id": [ { "id": "NAGS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N159", "type": "external" } ], "mass": 58156.0, "length": 534, "protein_name": "N-acetylglutamate synthase, mitochondrial", "gene_name": "NAGS", "organism": "Human", "refseq_name": "N-acetylglutamate synthase, mitochondrial", "refseq_ac": [ { "id": "NP_694551", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694551", "type": "external" } ], "gene_names_uniprotkb": "NAGS", "gene_names_refseq": "AGAS; ARGA; NAGS", "protein_names_uniprotkb": "N-acetylglutamate synthase, mitochondrial; 2.3.1.1; Amino-acid acetyltransferase", "protein_names_refseq": "N-acetylglutamate synthase, mitochondrial; amino-acid acetyltransferase", "tax_id": 9606, "disease": "N-acetylglutamate synthase deficiency (Disease Ontology:DOID:0112258); amino acid metabolic disorder (Disease Ontology:DOID:9252)", "pathway": " (hsa:162417); (R-HSA-70635); (R-HSA-9955693)", "pathway_count": 3, "publication_count": 44, "publication_id_list": "10369256;10813810;11237011;11237854;12447942;12459178;12754705;12807890;12859189;12948741;15050968;15878741;16141327;17407445;17421020;17496144;17900240;18263583;18323623;19006241;19754428;22076378;2263616;23649895;23894642;24703693;26592762;27037498;27771289;28228285;29557506;29789417;30337552;34510628;37047726;518841;6249820;6372096;7126172;7649538;8898077;9256435;9686347;9852088", "class_list": "", "function": "Identification and cloning of the human NAGS gene, determination of its genomic structure, verification of the catalytic activity of the purified recombinant enzyme, and the distribution of NAGS mRNA in human tissues GeneRIF: Gene product expressed in E. coli shown to have NAGS enzyme activity. Gene name provisionally was assigned as NAT7., [RefSeq, PubMed]; NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene., [RefSeq, PubMed]; Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPS1) activity., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq, Jul 2008]., [RefSeq]; The first mutation in NAGS has been reported in a family with carbamylglutamate responsive hyperammonemia and normal activity of the urea cycle enzymes., [RefSeq, PubMed]; The specificity of the assay was validated by demonstrating a complete deficiency of NAGS in liver homogenates from Nags -/- mice. CONCLUSION: The novel NAGS enzyme assay reported herein can be used for the diagnosis of inherited NAGS deficiency and may also be of value in the study of secondary hyperammonemia present in various inborn errors of metabolism as well as drug treatment., [RefSeq, PubMed]; Variation in the N-acetylglutamate Synthase Enhancer Region is associated with N-Acetylglutamate Synthase Deficiency. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RAZ9;Q8IWR4", "ec_number_list": [ { "id": "2.3.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.1", "type": "external" } ], "go_molecular_function": "GO:0004042 L-glutamate N-acetyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006536 glutamate metabolic process;GO:0000050 urea cycle;GO:0006526 L-arginine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q8N159-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00483-1", "uniprot_id": [ { "id": "CXFA4_HUMAN", "url": "https://www.uniprot.org/uniprot/O00483", "type": "external" } ], "mass": 9370.0, "length": 81, "protein_name": "Cytochrome c oxidase subunit FA4", "gene_name": "COXFA4", "organism": "Human", "refseq_name": "cytochrome c oxidase subunit FA4", "refseq_ac": [ { "id": "NP_002480", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002480", "type": "external" } ], "gene_names_uniprotkb": "COXFA4; NDUFA4", "gene_names_refseq": "CI-9k; CI-MLRQ; COXFA4; MC4DN21; MISTR1; MLRQ; MRCAF1; NDUFA4", "protein_names_uniprotkb": "Cytochrome c oxidase subunit FA4; CI-MLRQ; Complex I-MLRQ; Cytochrome c oxidase subunit NDUFA4; NADH-ubiquinone oxidoreductase MLRQ subunit", "protein_names_refseq": "Complex I 9kDa subunit; NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4; NADH-ubiquinone oxidoreductase MLRQ subunit; NDUFA4 mitochondrial complex associated; complex I-MLRQ; cytochrome c oxidase subunit FA4; cytochrome c oxidase subunit NDUFA4; mitochondrial respiratory chain associated factor 1; mitochondrial stress response 1", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 21 (Disease Ontology:DOID:0070506)", "pathway": " (hsa:4697); (R-HSA-5628897); (R-HSA-611105); (R-HSA-9707564); (R-HSA-9864848)", "pathway_count": 5, "publication_count": 178, "publication_id_list": "10327278;10329961;10716435;10745013;10980602;11029283;11034341;11340051;11486029;11545734;11695836;11959846;12161445;12203114;12231006;12438239;12453409;12611891;12714747;12837546;12869586;12906785;12969439;1327877;13298683;13538944;14651849;14741580;15105503;15223;15250827;15589136;16140933;16230336;16413492;16568091;16636147;16728594;16760263;16839880;17033964;17264172;17298220;17486094;17540029;18198340;18344994;186667;18692468;19113821;19439913;19487573;19503089;19690164;19822145;19968714;20080666;20182617;20351271;20378837;20929863;21750704;21958598;22342701;22363791;22427940;22902835;23125284;23150584;23186163;23260140;23270816;23345593;23481700;23564345;23746447;23747254;23775793;239860;24066844;24366874;24383451;24403053;24715725;24718924;25418920;25502872;25564869;25576301;25579166;25892735;25926683;25959673;26321642;26652033;26992070;27452731;27600516;27693358;27846572;28082314;28199844;28218747;28228285;28330871;28467828;28510447;28698372;28832583;28834231;28904123;29154948;29242379;29393594;29437277;29493099;29557506;29632711;29769354;30030519;30315122;30410026;30429286;30484775;30779550;30833945;31154438;31217245;31536960;31611695;31844290;31848261;32157095;32161166;32317297;32375044;32387766;32488085;32938616;32983136;33043033;33091337;33141586;33298915;33392160;33640490;33691108;33717175;33912179;33968037;34078123;3427020;34357683;3475708;34969438;35051231;35318648;35580925;35750769;35977935;36010968;36206731;36215666;36241641;36284347;36307669;37602474;37938771;4288886;5666113;6094553;7979252;7989588;8119488;9352085;9843204;9878551;9926927", "class_list": "", "function": "A human iPSC-array-based GWAS identifies a virus susceptibility locus in the NDUFA4 gene and functional variants., [RefSeq, PubMed]; Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules unsing 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix (PubMed:22902835). COXFA4 is required for complex IV maintenance (PubMed:22902835)., [UniProtKB, PubMed]; M6A RNA methylation-mediated NDUFA4 promotes cell proliferation and metabolism in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; NDUFA4 promotes cell proliferation by enhancing oxidative phosphorylation in pancreatic adenocarcinoma., [RefSeq, PubMed]; NDUFA4 promotes the progression of head and neck paraganglioma by inhibiting ferroptosis., [RefSeq, PubMed]; The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4D109;Q6FHN5", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0045277 respiratory chain complex IV;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0006123 mitochondrial electron transport, cytochrome c to oxygen;GO:0045333 cellular respiration", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "O00483-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00533-1", "uniprot_id": [ { "id": "NCHL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00533", "type": "external" } ], "mass": 135071.0, "length": 1208, "protein_name": "Neural cell adhesion molecule L1-like protein", "gene_name": "CHL1", "organism": "Human", "refseq_name": "neural cell adhesion molecule L1-like protein isoform 2 precursor", "refseq_ac": [ { "id": "NP_001240316", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001240316", "type": "external" } ], "gene_names_uniprotkb": "CHL1; CALL", "gene_names_refseq": "CALL; CHL1; L1CAM2", "protein_names_uniprotkb": "Neural cell adhesion molecule L1-like protein; Close homolog of L1", "protein_names_refseq": "L1 cell adhesion molecule 2; cell adhesion molecule with homology to L1CAM (close homolog of L1); cell adhesion molecule with homology to L1CAM (close homologue of L1); neural cell adhesion molecule L1-like protein isoform 2 precursor; neural cell adhesion molecule L1-like protein", "tax_id": 9606, "disease": "MASA syndrome (Disease Ontology:DOID:0060246); epilepsy (Disease Ontology:DOID:1826); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:10752); (R-HSA-447041)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "11237011;11986985;15653271;15704102;16150497;16335952;16959974;23090970;24190977;24714562;25502872;28467828;28832583;29242379;29391424;29557506;29671580;30311656;30626607;31154438;31844290;32157095;32350084;32488085;32502341;32983136;33326488;33453020;33592498;33717175;33936100;34433824;34718336;34932366;35051231;35154160;35262525;35494241;35580925;37074911;9799093", "class_list": "", "function": "An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Cell adhesion molecule L1 like plays a role in the pathogenesis of idiopathic hypogonadotropic hypogonadism. Erratum:[J Endocrinol Invest. 2023 Apr;46(4):853. doi: 10.1007/s40618-022-01942-z. PMID: 36315353], [RefSeq, PubMed]; Exosomal miR-338-3p suppresses non-small-cell lung cancer cells metastasis by inhibiting CHL1 through the MAPK signaling pathway. Erratum:[Cell Death Dis. 2022 May 19;13(5):473. doi: 10.1038/s41419-022-04933-3. PMID: 35589682] Publication Status: Online-Only, [RefSeq, PubMed]; Expression of CHL1 in Clear Cell Renal Cell Carcinoma and its Association With Prognosis., [RefSeq, PubMed]; Extracellular matrix and cell adhesion protein that plays a role in nervous system development and in synaptic plasticity. Both soluble and membranous forms promote neurite outgrowth of cerebellar and hippocampal neurons and suppress neuronal cell death. Plays a role in neuronal positioning of pyramidal neurons and in regulation of both the number of interneurons and the efficacy of GABAergic synapses. May play a role in regulating cell migration in nerve regeneration and cortical development. Potentiates integrin-dependent cell migration towards extracellular matrix proteins. Recruits ANK3 to the plasma membrane (By similarity)., [UniProtKB]; Ezrin interacts with the tumor suppressor CHL1 and promotes neuronal differentiation of human neuroblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; L1 could drive progression by enhancing cell migration and tumor growth in ovarian carcinoma., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Nov 2011]., [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": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 10, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 13, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 13, "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": 70, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "prognostic", "glycan_count": 21, "disease_count": 3, "glyco_site_count": 16, "binding_glycan_count": 0, "secondary_ac_list": "B7ZL03;Q2M3G2;Q59FY0", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030425 dendrite;GO:0045177 apical part of cell;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007155 cell adhesion;GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0043524 negative regulation of neuron apoptotic process", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "O00533-1", "record_type": "protein", "filter_code": "0001000.1000111.010000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75306-1", "uniprot_id": [ { "id": "NDUS2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75306", "type": "external" } ], "mass": 52546.0, "length": 463, "protein_name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial", "gene_name": "NDUFS2", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2 precursor", "refseq_ac": [ { "id": "NP_001159631", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159631", "type": "external" } ], "gene_names_uniprotkb": "NDUFS2", "gene_names_refseq": "CI-49; LHONAR2; MC1DN6; NDUFS2", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial; 7.1.1.2; CI-49kD; Complex I-49kD; NADH-ubiquinone oxidoreductase 49 kDa subunit", "protein_names_refseq": "CI-49kD; NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase); NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2 precursor; NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial; NADH-ubiquinone oxidoreductase 49 kDa subunit; NADH-ubiquinone oxidoreductase NDUFS2 subunit; complex 1, mitochondrial respiratory chain, 49-KD subunit; complex I 49kDa subunit", "tax_id": 9606, "disease": "mitochondrial complex I deficiency (Disease Ontology:DOID:0060536); nuclear type mitochondrial complex I deficiency 6 (Disease Ontology:DOID:0112066); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); alcohol use disorder (Disease Ontology:DOID:1574); multiple sclerosis (Disease Ontology:DOID:2377); Leigh disease (Disease Ontology:DOID:3652); inherited metabolic disorder (Disease Ontology:DOID:655); Leber-like hereditary optic neuropathy, autosomal recessive 2 (MONDO:MONDO:0958197)", "pathway": " (hsa:4720); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 3, "publication_count": 102, "publication_id_list": "10327278;11220739;11237011;11695836;12231006;12611891;12837546;1327877;14741580;15250827;16230336;17033964;17936786;186667;19463981;19752196;20406883;20552642;20858599;21057504;21924235;22036843;23150584;23270816;23481700;23553477;23564345;23747254;239860;24089531;24191001;24715725;24838397;25564869;25576301;25645385;25678554;26375851;26768311;26992070;27499296;27626371;27862975;27920218;28031252;28063628;28218747;28832583;28904123;29393594;29437277;29508533;29557506;29632046;29786170;29789417;30315122;30922174;31154438;31217245;31666358;31844290;31848261;31866046;31937595;32157095;32320651;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33744462;33879611;33882309;33912179;33968037;34211107;34357683;34405274;34509645;35051231;35333655;35580925;35614220;36215666;36580660;37938771;38195952;38199007;38665916;39302247;40914422;4288886;9571201;9585441;9647766;9878551", "class_list": "", "function": "Complex I protein NDUFS2 is vital for growth, ROS generation, membrane integrity, apoptosis, and mitochondrial energetics., [RefSeq, PubMed]; Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:22036843, PubMed:28031252, PubMed:30922174). Essential for the catalytic activity of complex I (PubMed:22036843, PubMed:30922174). Essential for the assembly of complex I (By similarity). Redox-sensitive, critical component of the oxygen-sensing pathway in the pulmonary vasculature which plays a key role in acute pulmonary oxygen-sensing and hypoxic pulmonary vasoconstriction (PubMed:30922174). Plays an important role in carotid body sensing of hypoxia (By similarity). Essential for glia-like neural stem and progenitor cell proliferation, differentiation and subsequent oligodendrocyte or neuronal maturation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; NUDT21 interacts with NDUFS2 to activate the PI3K/AKT pathway and promotes pancreatic cancer pathogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DVG7;J3KPM7;Q5VTW0;Q969P3;Q9UEV3", "ec_number_list": [ { "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": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "2.1.1.320", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.320", "type": "external" }, { "id": "1.3.8.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.7", "type": "external" }, { "id": "1.3.8.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.8", "type": "external" } ], "go_molecular_function": "GO:0009055 electron transfer activity;GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0031625 ubiquitin protein ligase binding;GO:0051287 NAD binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042063 gliogenesis;GO:0022008 neurogenesis;GO:0042776 proton motive force-driven mitochondrial ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "O75306-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75438-1", "uniprot_id": [ { "id": "NDUB1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75438", "type": "external" } ], "mass": 6961.0, "length": 58, "protein_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1", "gene_name": "NDUFB1", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1 isoform X1", "refseq_ac": [ { "id": "XP_047287377", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_047287377", "type": "external" } ], "gene_names_uniprotkb": "NDUFB1", "gene_names_refseq": "CI-MNLL; CI-SGDH; MNLL; NDUFB1", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1; CI-MNLL; Complex I-MNLL; NADH-ubiquinone oxidoreductase MNLL subunit", "protein_names_refseq": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1 isoform X1", "tax_id": 9606, "disease": "", "pathway": " (hsa:4707); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 3, "publication_count": 85, "publication_id_list": "10327278;11220739;11695836;12231006;12611891;12837546;1327877;14741580;15250827;16230336;17033964;17936786;186667;19752196;20406883;20552642;20858599;21924235;23150584;23270816;23481700;23553477;23564345;23747254;239860;24191001;24715725;25418920;25564869;25678554;26375851;26992070;27499296;27600516;27626371;28063628;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632046;30192525;30429286;30484775;30524438;31611695;31666358;31844290;31866046;32157095;32265295;32320651;32350084;32387766;32502341;32897882;32938616;33123756;33392160;33592498;33691108;33717175;33879611;33882309;33936100;34087483;34171305;34357683;35051231;35251023;35333655;35580925;35614220;36241641;38199007;4288886;9571201;9653160;9878551", "class_list": "", "function": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A0AV68", "ec_number_list": [], "go_molecular_function": "GO:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "O75438-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95139-1", "uniprot_id": [ { "id": "NDUB6_HUMAN", "url": "https://www.uniprot.org/uniprot/O95139", "type": "external" } ], "mass": 15489.0, "length": 128, "protein_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6", "gene_name": "NDUFB6", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 isoform 1", "refseq_ac": [ { "id": "NP_002484", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002484", "type": "external" } ], "gene_names_uniprotkb": "NDUFB6", "gene_names_refseq": "B17; CI; NDUFB6", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6; CI-B17; Complex I-B17; NADH-ubiquinone oxidoreductase B17 subunit", "protein_names_refseq": "CI-B17; NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa; NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 isoform 1; NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6; NADH-ubiquinone oxidoreductase B17 subunit; NADH-ubiquinone oxidoreductase beta subunit, 6; complex I, mitochondrial respiratory chain, B17 subunit; complex I-B17", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:4712); (R-HSA-611105); (R-HSA-6799198); (R-HSA-9837999)", "pathway_count": 4, "publication_count": 134, "publication_id_list": "10327278;11220739;11237011;11695836;11923310;12198491;12231006;12611891;12837546;1327877;14623864;14741580;15250827;15522782;15870080;16115876;16230336;17033964;17101804;17297443;17579211;17936786;186667;19752196;19841671;20068231;20406883;20552642;20858599;21924235;22262461;22710082;23150584;23201127;23270816;23553477;23564345;23747254;23783831;23931759;239860;24191001;24315374;24520911;24715725;25418920;25564869;25576301;25678554;26154972;26504172;26811146;26923599;26992070;27397612;27496948;27499296;27600516;27626371;27642048;27846572;27920218;28063628;28218747;28228285;28377575;28396416;28510447;28832583;28834231;28904123;29242379;29301859;29393594;29437277;29557506;29632046;29786170;29932645;30120231;30315122;30410026;30779550;31154438;31327635;31611695;31666358;31695197;31844290;31848261;31866046;32157095;32265295;32320651;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33257573;33298915;33592498;33691108;33879611;33882309;33912179;33936100;33968037;34093574;34171305;34185709;34357683;34659107;34704252;34932366;34943861;35051231;35318648;35333655;35580925;35614220;35870450;36010968;36284347;36629048;37938771;38199007;4288886;7623837;9571201;9760212;9878551", "class_list": "", "function": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone., [UniProtKB, PubMed, UniProtKB, UniProtKB]; NDUFB6 Polymorphism Is Associated With Physical Activity-Mediated Metabolic Changes in Type 2 Diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K0Y7;Q5VYT2;Q6IB84", "ec_number_list": [], "go_molecular_function": "GO:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0042775 mitochondrial ATP synthesis coupled electron transport;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "O95139-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01178-1", "uniprot_id": [ { "id": "NEU1_HUMAN", "url": "https://www.uniprot.org/uniprot/P01178", "type": "external" } ], "mass": 12722.0, "length": 125, "protein_name": "Oxytocin-neurophysin 1 proprotein", "gene_name": "OXT", "organism": "Human", "refseq_name": "oxytocin-neurophysin 1 preproprotein", "refseq_ac": [ { "id": "NP_000906", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000906", "type": "external" } ], "gene_names_uniprotkb": "OXT; OT", "gene_names_refseq": "OT-NPI; OT; OXT-NPI; OXT", "protein_names_uniprotkb": "Oxytocin-neurophysin 1 proprotein; OT-NPI; Ocytocin; pro-OXT; pro-oxytocin/neurophysin", "protein_names_refseq": "oxytocin, prepro- (neurophysin I); oxytocin, prepropeptide; oxytocin-neurophysin 1 preproprotein; oxytocin-neurophysin 1; oxytocin-neurophysin I, preproprotein", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); gastric ulcer (Disease Ontology:DOID:10808); alcohol use disorder (Disease Ontology:DOID:1574); amphetamine abuse (Disease Ontology:DOID:670)", "pathway": " (hsa:5020); (R-HSA-388479); (R-HSA-416476)", "pathway_count": 3, "publication_count": 71, "publication_id_list": "10191087;10567430;10727532;10861009;11015615;11742120;11753430;12120503;12446593;1313946;13591312;1371278;15327388;15931222;15951850;16182515;16268778;16333859;16339447;16672911;16754659;16923326;17105757;17699341;18174156;18434541;18508290;18515384;18577758;18936096;1905813;20463780;20538951;20973922;2108152;2115785;21220339;2249637;24766294;2841328;2991279;30303493;3086311;30962532;34087483;34459989;35241813;35851571;36864410;3768139;39034759;39068687;39298414;39456718;4061066;4065330;6278592;6401806;6574452;7262323;7802081;7929452;7937899;8106369;8664309;9264324;9305846;9459574;9651149;9770463;9884074", "class_list": "", "function": "Carrier protein that binds to and transports oxytocin from the hypothalamus to the posterior pituitary gland, protecting it from degradation and facilitating its release., [UniProtKB, UniProtKB]; Chronic intranasal oxytocin alleviates cognitive impairment and reverses oxytocin signaling upregulation in MK801-induced mice., [RefSeq, PubMed]; Epistatic interactions between oxytocin- and dopamine-related genes and trust. Publication Status: Online-Only, [RefSeq, PubMed]; Neuropeptide hormone released by the posterior pituitary gland that plays a key role in social behavior and other biological processes, such as milk ejection (PubMed:15931222, PubMed:20538951, PubMed:21220339, PubMed:6278592). Released in response to a variety of social cues and acts by binding to oxytocin receptor (OXTR), triggering signaling that modulates neural circuits by altering ion channel activity, changing intrinsic neuronal properties and modifying synaptic transmission (both excitatory and inhibitory) (PubMed:18174156, PubMed:35241813, PubMed:35851571). Central release (direct secretion in the brain) plays essential roles in social behavior, such as maternal care, social cognition and affiliative behaviors (PubMed:15931222, PubMed:20538951, PubMed:21220339). Stressful and anxiogenic stimuli promote release of oxytocin, which acts as a powerful modulator of anxiety- and stress-related behaviors (PubMed:15931222, PubMed:20538951, PubMed:21220339). Oxytocin promotes altruism by enhancing empathy, trust and social bonding, making people more generous (PubMed:15931222, PubMed:20538951, PubMed:21220339). Can also favor parochial altruism, a social behavior involving costly helping of one's own group (in-group) that often comes with hostility or discrimination towards other groups (out-groups) (PubMed:20538951, PubMed:21220339). Modulates neural circuits related to reward, fear and social approach, encouraging care and cooperation, but can also increase guilt or aggression towards out-groups (PubMed:20538951, PubMed:21220339). Beyond its role in social behavior, plays a role in other processes, such as parturition, lactation or osteoblast differentiation, when released peripherally (secreted from the posterior pituitary gland into the bloodstream) (PubMed:6278592). Required for parturition and milk ejection by triggering and strengthening contraction of the smooth muscle of the uterus and mammary gland, respectively (PubMed:6278592). Promotes bone mass by stimulating bone formation by osteoblasts (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Oxytocin/Oxytocin Receptor Signalling in the Gastrointestinal System: Mechanisms and Therapeutic Potential. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Plasma concentrations of peptide hormones: Unrealistic levels of vasopressin (AVP), oxytocin (OXT), and brain natriuretic peptide (BNP). Review article, [RefSeq, PubMed]; Precursor of oxytocin, a neurohypophyseal hormone that plays a key role in social interactions and neurophysin 1, its carrier protein., [UniProtKB, PubMed]; This gene encodes a precursor protein that is processed to produce oxytocin and neurophysin I. Oxytocin is a posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalamus along with its carrier protein neurophysin I. Together with neurophysin, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. The precursor seems to be activated while it is being transported along the axon to the posterior pituitary. This hormone contracts smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3MIG0", "ec_number_list": [], "go_molecular_function": "GO:0005185 neurohypophyseal hormone activity;GO:0031855 oxytocin receptor binding;GO:0005184 neuropeptide hormone activity", "go_cellular_component": "GO:0098992 neuronal dense core vesicle;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030141 secretory granule;GO:0043195 terminal bouton", "go_biological_process": "GO:0060179 male mating behavior;GO:0060406 positive regulation of penile erection;GO:0010701 positive regulation of norepinephrine secretion;GO:0002125 maternal aggressive behavior;GO:0060450 positive regulation of hindgut contraction", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "P01178-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01185-1", "uniprot_id": [ { "id": "NEU2_HUMAN", "url": "https://www.uniprot.org/uniprot/P01185", "type": "external" } ], "mass": 17325.0, "length": 164, "protein_name": "Vasopressin-neurophysin 2-copeptin", "gene_name": "AVP", "organism": "Human", "refseq_name": "vasopressin-neurophysin 2-copeptin preproprotein", "refseq_ac": [ { "id": "NP_000481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000481", "type": "external" } ], "gene_names_uniprotkb": "AVP; ARVP; VP", "gene_names_refseq": "ADH; ARVP; AVP-NPII; AVP; AVRP; VP", "protein_names_uniprotkb": "Vasopressin-neurophysin 2-copeptin; AVP-NPII; Arginine-vasopressin; Neurophysin-II", "protein_names_refseq": "antidiuretic hormone; argipressin; neurohypophyseal; prepro-AVP-NP II; prepro-arginine-vasopressin-neurophysin II; vasopressin-neurophysin 2-copeptin preproprotein; vasopressin-neurophysin 2-copeptin; vasopressin-neurophysin II-copeptin", "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:551); (R-HSA-1368108); (R-HSA-388479); (R-HSA-416476); (R-HSA-418555); (R-HSA-432040); (R-HSA-5619099); (R-HSA-879518); (R-HSA-8856825); (R-HSA-8856828); (R-HSA-9036092)", "pathway_count": 11, "publication_count": 414, "publication_id_list": "10097102;10191087;10329029;10358072;10369876;10436022;10487710;10535736;10542231;10559856;10559861;10559924;10567358;10567430;10601278;10613896;10625686;10649434;10677561;10727532;10766823;10769163;10861009;10983987;11007482;11015615;11017955;11018023;11034202;11071885;11076969;11076974;11082044;11150885;11159893;11161827;11162494;11231140;11239472;11241162;11247302;11316767;11395505;11443218;11454741;11470803;11516654;11517213;11532990;11577110;11588219;11742120;11748489;11753430;11877457;11877461;11889126;11919637;11927540;11968001;11980620;11988742;12012274;12036966;12057195;12058044;12086608;12106601;12107248;12120503;12130638;12180353;12194985;12213833;12221107;12234931;12351693;12359138;12406875;12429842;12446593;12447393;12451172;12464600;12519420;12717448;12738229;12801959;12847086;12860470;12931042;12944396;12952949;12958364;1313946;1317852;13549488;13591312;1373524;14510916;14514735;14555962;14581451;14592814;14617351;14622578;14622579;14662753;14671004;14672706;14673472;14701836;14726597;14993604;1510932;15134832;1517224;15252009;15260957;15318165;15327388;15339664;1534149;1535555;15473838;15500444;15502812;15502813;15538939;15560782;15644573;15649145;15671180;15703209;15703994;15728179;15765929;15769620;15802264;15895077;15916959;15951850;16006166;16103228;16120822;16159959;16182515;16215232;16268778;16313925;16326391;16333859;16339447;16407073;16407156;16410077;16459302;16460808;16516836;16672911;16687412;16707488;16723738;16754659;16798879;16857194;16880396;16903783;16923326;16971491;17018281;17035995;17105757;17156409;17158794;17168849;17178220;17267500;17360967;1740104;17456551;17494869;17512409;17522231;17540576;17609109;17681954;17699341;17713526;17762867;17765681;17978091;18032517;18044684;18093523;18166656;18174156;18199683;18202181;18316776;18388313;18434541;1847920;18508290;18511455;18515384;18577758;18587630;18678926;18775314;18790740;18819912;18936096;18981233;1905813;19092055;19105585;19140243;19144687;19170255;19287005;19296720;19383790;19458185;19536138;19574955;19575674;19603039;1968060;19696796;19696798;19710929;19713939;19732400;19776351;19797118;19809571;19853559;19876791;19929708;20033059;20059951;20211604;20231386;20351096;20381629;20428113;20448150;20463780;20826345;20946875;20973922;21036126;21102408;2115402;2115785;21187331;21278753;21316588;21445324;21482805;21499258;21613550;2163110;21779028;21841790;21883765;21927000;21927001;21962517;21995445;22099461;22118466;22233676;22357968;22484487;22505844;2257624;22815487;22863004;22942912;23297414;23360744;23536704;23823722;23861397;23891661;24130457;2417744;24186068;24384571;24581490;24680432;24687066;24746795;24766294;24789820;2491850;24966051;25107275;25303366;25341920;25527620;2553411;2553705;26042225;26403691;26417854;26829388;2841328;2871555;2890644;29443750;29602314;2991279;30303493;30343886;3049610;30833991;3086311;30962532;3104109;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33049737;33664408;33742150;3417785;35251023;3768139;38247327;38267944;38279313;38402172;39034759;4061066;4065330;6085243;6146630;6401806;6574452;7271787;7503232;7510718;7526388;7535000;7538665;7569928;7678419;7714110;7802081;7822302;7877694;7929452;7937899;7981125;8045958;8063828;8103767;8106369;8140421;8340388;8370682;8514797;8514868;8524399;8552632;8553074;8554046;8618898;8621513;8626836;8664309;8672451;8683474;8787677;8837779;8855281;9092476;9100026;9169477;9227644;9263355;9264324;9303539;9305846;9360520;9369468;9374639;9374640;9417641;9427626;9428629;9459574;9467595;9580132;9635431;9651149;9651336;9723620;9736607;9756892;9770463;9812899;9814475;9829975;9884074", "class_list": "", "function": "Arginine vasopressin induces ferroptosis to promote heart failure via activation of the V1aR/CaN/NFATC3 pathway., [RefSeq, PubMed]; Carrier protein that binds to and transports Arg-vasopressin from the hypothalamus to the posterior pituitary gland, protecting it from degradation and facilitating its release., [UniProtKB, UniProtKB]; Has a direct antidiuretic action on the kidney, it also causes vasoconstriction of the peripheral vessels. Acts by binding to vasopressin receptors (V1bR/AVPR1B, V1aR/AVPR1A, and V2R/AVPR2)., [UniProtKB, PubMed, PubMed, PubMed]; Interplay of Angiotensin Peptides, Vasopressin, and Insulin in the Heart: Experimental and Clinical Evidence of Altered Interactions in Obesity and Diabetes Mellitus. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Midregional proatrial naturetic peptide (MRproANP) and copeptin (COPAVP) as predictors of all-cause mortality in recently diagnosed mild to moderate COPD-results from COSYCONET. Publication Status: Online-Only, [RefSeq, PubMed]; Plasma concentrations of peptide hormones: Unrealistic levels of vasopressin (AVP), oxytocin (OXT), and brain natriuretic peptide (BNP). Review article, [RefSeq, PubMed]; Precursor of Arg-vasopressin, an antidiuretic hormone, and neurophysin 2, its carrier protein., [UniProtKB, PubMed]; This gene encodes a member of the vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the neuropeptide hormone arginine vasopressin, and two other peptides, neurophysin 2 and copeptin. Arginine vasopressin is a posterior pituitary hormone that is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). This gene is present in a gene cluster with the related gene oxytocin on chromosome 20. [provided by RefSeq, Nov 2015]., [RefSeq]; Zonulin and copeptin relation to some metabolic markers in school-aged obese children. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 20, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0AV35;O14935", "ec_number_list": [], "go_molecular_function": "GO:0005185 neurohypophyseal hormone activity;GO:0031894 V1A vasopressin receptor binding;GO:0031895 V1B vasopressin receptor binding;GO:0004672 protein kinase activity;GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0098992 neuronal dense core vesicle;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005829 cytosol;GO:0030141 secretory granule", "go_biological_process": "GO:0051970 negative regulation of transmission of nerve impulse;GO:1990089 response to nerve growth factor;GO:0002125 maternal aggressive behavior;GO:0007621 negative regulation of female receptivity;GO:0006091 generation of precursor metabolites and energy", "synthesized_glycan_count": 0, "hit_score": 41.5, "record_id": "P01185-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40205-1", "uniprot_id": [ { "id": "NCYM_HUMAN", "url": "https://www.uniprot.org/uniprot/P40205", "type": "external" } ], "mass": 11733.0, "length": 109, "protein_name": "N-cym protein", "gene_name": "MYCNOS", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MYCNOS; CYMN; NCYM", "gene_names_refseq": "", "protein_names_uniprotkb": "N-cym protein; N-myc opposite strand", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "1419902;24391509;33298915", "class_list": "", "function": "Regulates stability of MYCN in neuroblastoma cells by inhibiting GSK3B-mediated MYCN phosphorylation. Inhibits GSK3B activity by promoting its phosphorylation at 'Ser-9' (PubMed:24391509)., [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": "Q53TD4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0043066 negative regulation of apoptotic process;GO:0006469 negative regulation of protein kinase activity;GO:0050821 protein stabilization;GO:0031647 regulation of protein stability", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "P40205-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51970-1", "uniprot_id": [ { "id": "NDUA8_HUMAN", "url": "https://www.uniprot.org/uniprot/P51970", "type": "external" } ], "mass": 20105.0, "length": 172, "protein_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8", "gene_name": "NDUFA8", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 isoform 1", "refseq_ac": [ { "id": "NP_055037", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055037", "type": "external" } ], "gene_names_uniprotkb": "NDUFA8", "gene_names_refseq": "CI-19KD; CI-PGIV; MC1DN37; NDUFA8; PGIV", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8; CI-19kD; CI-PGIV; Complex I-19kD; Complex I-PGIV; NADH-ubiquinone oxidoreductase 19 kDa subunit", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 isoform 1; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8; NADH-ubiquinone oxidoreductase 19 kDa subunit; NADH:ubiquinone oxidoreductase PGIV subunit; complex I-19kD; complex I-PGIV", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency (Disease Ontology:DOID:0112065); mitochondrial complex I deficiency, nuclear type 37 (MONDO:MONDO:0030997)", "pathway": " (hsa:4702); (R-HSA-611105); (R-HSA-6799198)", "pathway_count": 3, "publication_count": 103, "publication_id_list": "10327278;11220739;11695836;12231006;12611891;12837546;1327877;14741580;15250827;16230336;16959974;17033964;17936786;186667;19752196;20406883;20552642;20858599;21310150;21924235;22121020;23150584;23270816;23481700;23553477;23564345;23676665;23747254;239860;24191001;24366607;24715725;25502872;25564869;25576301;25645385;25678554;26154972;26375851;26811146;26992070;27499296;27626371;27846572;27920218;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29769354;29789417;30192525;30315122;30410026;30429286;30779550;30833945;31154438;31217245;31222486;31530632;31666358;31844290;31848261;31866046;31998317;32157095;32161166;32320651;32385911;32897882;32938616;33153867;33298915;33592498;33879611;33882309;33912179;33968037;33981976;34171305;34357683;35051231;35154160;35333655;35561310;35580925;35614220;35877019;36241641;37938771;38096616;38199007;38665916;4288886;9150947;9571201;9860297;9878551", "class_list": "", "function": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371, PubMed:32385911, PubMed:33153867). Complex I functions in the transfer of electrons from NADH to the respiratory chain (PubMed:27626371). The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:27626371)., [UniProtKB, PubMed, PubMed, PubMed]; Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution., [RefSeq, PubMed]; Identification of Metabolic Syndrome-Related miRNA-mRNA Regulatory Networks and Key Genes Based on Bioinformatics Analysis., [RefSeq, PubMed]; NDUFA8 is transcriptionally regulated by EP300/H3K27ac and promotes mitochondrial respiration to support proliferation and inhibit apoptosis in cervical cancer., [RefSeq, PubMed]; The protein encoded by this gene belongs to the complex I 19 kDa subunit family. Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays an important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing of this gene 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B1AM93;Q9Y6N0", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "P51970-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52961-1", "uniprot_id": [ { "id": "NAR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P52961", "type": "external" } ], "mass": 36335.0, "length": 327, "protein_name": "GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1", "gene_name": "ART1", "organism": "Human", "refseq_name": "GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1 precursor", "refseq_ac": [ { "id": "NP_004305", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004305", "type": "external" } ], "gene_names_uniprotkb": "ART1", "gene_names_refseq": "ART1; ART2; ARTC1; CD296; RT6", "protein_names_uniprotkb": "GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1; 2.4.2.31; ADP-ribosyltransferase C2 and C3 toxin-like 1; ARTC1; Mono(ADP-ribosyl)transferase 1", "protein_names_refseq": "ADP-ribosyltransferase 2; ADP-ribosyltransferase C2 and C3 toxin-like 1; GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1 precursor; GPI-linked NAD(P)(+)--arginine ADP-ribosyltransferase 1; mono(ADP-ribosyl)transferase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:417); (R-HSA-1462054)", "pathway_count": 2, "publication_count": 29, "publication_id_list": "10618521;12021776;12060767;1302183;1339298;1445872;14978097;15210812;1547345;17088326;18973303;2006422;20106667;21901419;23481700;24715725;2500436;2668334;27277835;27466078;29557506;2997278;35294260;37381178;38504172;7833799;7947688;8329717;9169779", "class_list": "", "function": "ADP-ribosyltransferase catalyzes the ADP-ribosylation of arginine residues in proteins. Mono-ADP-ribosylation is a posttranslational modification of proteins that is interfered with by a variety of bacterial toxins including cholera, pertussis, and heat-labile enterotoxins of E. coli. The amino acid sequence consists of predominantly hydrophobic N- and C-terminal regions, which is characteristic of glycosylphosphatidylinositol (GPI)-anchored proteins. This gene was previously designated ART2. [provided by RefSeq, Jul 2008]., [RefSeq]; ART1 knockdown decreases the IL-6-induced proliferation of colorectal cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; ARTC1-mediated VAPB ADP-ribosylation regulates calcium homeostasis., [RefSeq, PubMed]; Expression of the mono-ADP-ribosyltransferase ART1 by tumor cells mediates immune resistance in non-small cell lung cancer., [RefSeq, PubMed]; Has ADP-ribosyltransferase activity toward GLP1R., [UniProtKB, PubMed]; Our data suggest that ART1 could regulate EMT by regulating the RhoA/ROCK1/AKT/beta-catenin pathway and its downstream factors (snail1, vimentin, N-cadherin and E-cadherin) and that it therefore plays an important role in the progression of colon carcinoma., [RefSeq, PubMed]; Up-regulation of ART1 expression is associated with the aggressiveness of glioma., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q6NTD2;Q96KT9", "ec_number_list": [ { "id": "2.4.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.31", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.286", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286", "type": "external" } ], "go_molecular_function": "GO:0016779 nucleotidyltransferase activity;GO:0003950 NAD+ poly-ADP-ribosyltransferase activity;GO:0106274 NAD+-protein-arginine ADP-ribosyltransferase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0033017 sarcoplasmic reticulum membrane;GO:0098552 side of membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "P52961-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56730-1", "uniprot_id": [ { "id": "NETR_HUMAN", "url": "https://www.uniprot.org/uniprot/P56730", "type": "external" } ], "mass": 97067.0, "length": 875, "protein_name": "Neurotrypsin", "gene_name": "PRSS12", "organism": "Human", "refseq_name": "neurotrypsin isoform 1 precursor", "refseq_ac": [ { "id": "NP_003610", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003610", "type": "external" } ], "gene_names_uniprotkb": "PRSS12", "gene_names_refseq": "BSSP-3; BSSP3; MRT1; PRSS12", "protein_names_uniprotkb": "Neurotrypsin; 3.4.21.-; Leydin; Motopsin; Serine protease 12", "protein_names_refseq": "brain-specific serine protease 3; leydin; neurotrypsin isoform 1 precursor; protease, serine 12; protease, serine, 12 (neurotrypsin, motopsin)", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder (Disease Ontology:DOID:0060308); autosomal recessive intellectual developmental disorder 1 (Disease Ontology:DOID:0081177); intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:8492)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10103056;12459588;20332099;33392160;36609795;9540828", "class_list": "", "function": "4-base pair deletion in the neurotrypsin gene was associated with autosomal recessive nonsyndromic mental retardation; findings suggest that neurotrypsin-mediated proteolysis is required for normal synaptic function, [RefSeq, PubMed]; Genes encoding agrin (AGRN) and neurotrypsin (PRSS12) are associated with muscle mass, strength and plasma C-terminal agrin fragment concentration., [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]; Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations associated with learning and memory operations., [UniProtKB]; This gene encodes a member of the trypsin family of serine proteases and contains a signal peptide, a proline-rich region, a Kringle domain, four scavenger receptor cysteine-rich domains, and a trypsin-like serine protease domain. The protein, sometimes referred to as neurotrypsin or motopsin, is secreted from neuronal cells and localizes to the synaptic cleft. Studies in mice show that this protein cleaves a protein, agrin, that is important for the formation and maintenance of exitatory synapses. Defects in this gene cause a form of autosomal recessive cognitive impairment (MRT1). [provided by RefSeq, Jul 2017]., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "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": "Q9UP16", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0030424 axon;GO:0030425 dendrite;GO:0043195 terminal bouton", "go_biological_process": "GO:0006887 exocytosis;GO:0031638 zymogen activation", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P56730-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60323-1", "uniprot_id": [ { "id": "NANO3_HUMAN", "url": "https://www.uniprot.org/uniprot/P60323", "type": "external" } ], "mass": 18844.0, "length": 173, "protein_name": "Nanos homolog 3", "gene_name": "NANOS3", "organism": "Human", "refseq_name": "nanos homolog 3", "refseq_ac": [ { "id": "NP_001092092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092092", "type": "external" } ], "gene_names_uniprotkb": "NANOS3; NOS3", "gene_names_refseq": "NANOS1L; NANOS3; NOS3; ZC2HC12C", "protein_names_uniprotkb": "Nanos homolog 3; NOS-3", "protein_names_refseq": "nanos homolog 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:342977); (R-HSA-9827857)", "pathway_count": 2, "publication_count": 19, "publication_id_list": "17418157;19565640;21421998;25543152;25904364;26189426;27768780;28076512;28985527;29091993;29713018;30590035;32127035;33470497;33608411;34065661;34417763;35411086;8889548", "class_list": "", "function": "Data can be used to further elucidate the role of NANOS3 and DAZL in germ cell development both in vitro and in vivo Publication Status: Online-Only, [RefSeq, PubMed]; Despite the prominent role of NANOS3 in ovarian development, our findings suggest that NANOS3 mutations were not associated with POF in the present cohort of Brazilian women. Publication Status: Online-Only, [RefSeq, PubMed]; Gene Alterations and Expression Spectrum of NANOS3 in Nonobstructive Azoospermia., [RefSeq, PubMed]; Mutations in NANOS3 exons are rare in both Chinese and Caucasian women with premature ovarian failure. GeneRIF: Observational study of genotype prevalence. (HuGE Navigator), [RefSeq, PubMed]; NANOS3 has role in the acquisition of invasiveness by human lung tumour cells and propose a new mechanism of post-transcriptional regulation of epithelial-mesenchymal transition., [RefSeq, PubMed]; NANOS3 modulates essential aspects of human germ cell development perhaps during the cell cycle., [RefSeq, PubMed]; Plays a role in the maintenance of the undifferentiated state of germ cells regulating the spermatogonia cell cycle and inducing a prolonged transit in G1 phase. Affects cell proliferation probably by repressing translation of specific mRNAs. Maintains the germ cell lineage by suppressing both Bax-dependent and -independent apoptotic pathways. Essential in the early stage embryo to protect the migrating primordial germ cells (PGCs) from apoptosis., [UniProtKB, PubMed]; Report for the first time analysis of the NANOS3 gene in infertile males., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q495E5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008047 enzyme activator activity;GO:0008270 zinc ion 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:0006417 regulation of translation;GO:0007283 spermatogenesis;GO:0017148 negative regulation of translation;GO:0007281 germ cell development;GO:0048477 oogenesis", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "P60323-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01538-1", "uniprot_id": [ { "id": "MYT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01538", "type": "external" } ], "mass": 122329.0, "length": 1121, "protein_name": "Myelin transcription factor 1", "gene_name": "MYT1", "organism": "Human", "refseq_name": "myelin transcription factor 1", "refseq_ac": [ { "id": "NP_004526", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004526", "type": "external" } ], "gene_names_uniprotkb": "MYT1; KIAA0835; KIAA1050; MTF1; MYTI; PLPB1", "gene_names_refseq": "C20orf36; MTF1; MYT1; MYTI; NZF2; PLPB1; ZC2H2C1; ZC2HC4A", "protein_names_uniprotkb": "Myelin transcription factor 1; MyT1; MyTI; Myelin transcription factor I; PLPB1; Proteolipid protein-binding protein", "protein_names_refseq": "myelin transcription factor 1; myelin transcription factor I; neural zinc finger transcription factor 2; proteolipid protein binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:4661)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;12606722;12738781;1280325;14962745;30595380;32251364;32871052;33392160;33592498;33880880;34011236;35051231;35561310;37938771;8530187", "class_list": "", "function": "Binds to the promoter region of genes encoding proteolipid proteins of the central nervous system. May play a role in the development of neurons and oligodendroglia in the CNS. May regulate a critical transition point in oligodendrocyte lineage development by modulating oligodendrocyte progenitor proliferation relative to terminal differentiation and up-regulation of myelin gene transcription., [UniProtKB, PubMed]; Dysregulation of Myt1 expression acts as a potential peripheral biomarker for major depressive disorder and bipolar disorder., [RefSeq, PubMed]; MYT1 attenuates neuroblastoma cell differentiation by interacting with the LSD1/CoREST complex., [RefSeq, PubMed]; MYT1 role in the microtia-craniofacial microsomia spectrum., [RefSeq, PubMed]; Novel MYT1 variants expose the complexity of oculo-auriculo-vertebral spectrum genetic mechanisms., [RefSeq, PubMed]; PICOT knock-down in Jurkat T cells resulted in a reduced histone H3 lysine 27 trimethylation (H3K27me3) at the PRC2 target gene, myelin transcription factor 1 (MYT1), suggesting that PICOT binding to EED alters PRC2-regulated transcriptional repression, and potentially contributes to the epigenetic regulation of chromatin silencing and remodeling., [RefSeq, PubMed]; The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 6, "predicted_n_glycosites": 0, "predicted_o_glycosites": 6, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 43, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "E1P5H0;F5H7M8;O94922;Q7Z5W2;Q9UPV2", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion 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:0006351 DNA-templated transcription;GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q01538-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16718-1", "uniprot_id": [ { "id": "NDUA5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16718", "type": "external" } ], "mass": 13459.0, "length": 116, "protein_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5", "gene_name": "NDUFA5", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 3", "refseq_ac": [ { "id": "NP_001269349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269349", "type": "external" } ], "gene_names_uniprotkb": "NDUFA5", "gene_names_refseq": "B13; CI-13KD-B; CI-13kB; NDUFA5; NUFM; UQOR13", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5; CI-13kD-B; Complex I subunit B13; Complex I-13kD-B; NADH-ubiquinone oxidoreductase 13 kDa-B subunit", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 3; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5; NADH-ubiquinone oxidoreductase 13 kDa-B subunit; complex I 13kDa subunit B; complex I subunit B13; type I dehydrogenase; ubiquinone reductase", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:4698); (R-HSA-611105); (R-HSA-6799198); (R-HSA-9013408)", "pathway_count": 4, "publication_count": 104, "publication_id_list": "10327278;10343126;10523675;10652265;11220739;11237011;11689693;11695836;11864571;11967128;12177196;12231006;12376551;12611891;12837546;1327877;14741580;15133129;15250827;16230336;16339170;17027967;17033964;17936786;186667;19581409;19608861;19713215;19752196;20406883;20552642;20679435;20858599;21621533;21924235;22734669;23150584;23255595;23270816;23481700;23553477;23564345;23747254;239860;24191001;24659802;24715725;25564869;25576301;25678554;25880248;26154972;26992070;27481945;27499296;27626371;27920218;28196833;28832583;29508533;29557506;29786170;30833945;31530632;31666358;31844290;31866046;31871319;31937595;31998317;32320651;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33879611;33882309;33936100;33968037;34509645;34561969;35051231;35333655;35580925;35614220;36010968;36241641;38199007;4288886;7476457;8939998;9021153;9048877;9571201;9822605;9878551", "class_list": "", "function": "Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [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": 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": "B2RD98;Q5H9R2;Q6IRX7", "ec_number_list": [], "go_molecular_function": "GO:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045271 respiratory chain complex I", "go_biological_process": "GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0042776 proton motive force-driven mitochondrial ATP synthesis;GO:0022904 respiratory electron transport chain;GO:0009060 aerobic respiration", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q16718-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q330K2-1", "uniprot_id": [ { "id": "NDUF6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q330K2", "type": "external" } ], "mass": 38176.0, "length": 333, "protein_name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6", "gene_name": "NDUFAF6", "organism": "Human", "refseq_name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 2", "refseq_ac": [ { "id": "NP_001317511", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317511", "type": "external" } ], "gene_names_uniprotkb": "NDUFAF6; C8orf38", "gene_names_refseq": "C8orf38; FRTS5; MC1DN17; NDUFAF6; lncREST", "protein_names_uniprotkb": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6; Putative phytoene synthase", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 2; NADH dehydrogenase (ubiquinone) complex I, assembly factor 6; UPF0551 protein C8orf38, mitochondrial; long non-coding RNA REplication STress; putative phytoene synthase", "tax_id": 9606, "disease": "Fanconi renotubular syndrome 5 (Disease Ontology:DOID:0080761); nuclear type mitochondrial complex I deficiency 17 (Disease Ontology:DOID:0112078); retinal degeneration (Disease Ontology:DOID:8466)", "pathway": " (hsa:137682); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "11220739;11237011;17936786;18614015;19752196;20406883;20552642;20858599;20877624;21924235;22019594;23553477;24191001;25678554;26741492;27466185;27499296;27623250;27626371;29531337;29632046;30642748;31666358;31866046;32157095;32320651;32387766;33298915;33879611;33882309;33981976;34357683;35237031;35333655;35614220;38199007;38720117;9571201", "class_list": "", "function": "C8orf38 is a crucial factor required for the translation and/or integration of ND1 into an early-stage assembly intermediate, [RefSeq, PubMed]; Genetic Effects of NDUFAF6 rs6982393 and APOE on Alzheimer's Disease in Chinese Rural Elderly: A Cross-Sectional Population-Based Study. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of complex I subunit MT-ND1., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease., [RefSeq, PubMed]; This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [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": 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": "A8MT28;A8MWF0;B4DQ45;Q8N6U6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0032981 mitochondrial respiratory chain complex I assembly", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q330K2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4G0N4-1", "uniprot_id": [ { "id": "NADK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4G0N4", "type": "external" } ], "mass": 49433.0, "length": 442, "protein_name": "NAD kinase 2, mitochondrial", "gene_name": "NADK2", "organism": "Human", "refseq_name": "NAD kinase 2, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_001078880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078880", "type": "external" } ], "gene_names_uniprotkb": "NADK2; C5orf33; MNADK; NADKD1", "gene_names_refseq": "C5orf33; DECRD; MNADK; NADK2; NADKD1", "protein_names_uniprotkb": "NAD kinase 2, mitochondrial; 2.7.1.23; Mitochondrial NAD kinase; NAD kinase domain-containing protein 1, mitochondrial", "protein_names_refseq": "NAD kinase 2, mitochondrial isoform 1; NAD kinase domain-containing protein 1, mitochondrial", "tax_id": 9606, "disease": "progressive encephalopathy with leukodystrophy due to DECR deficiency (MONDO:MONDO:0014464)", "pathway": " (hsa:133686); (R-HSA-196807); (R-HSA-9837999)", "pathway_count": 3, "publication_count": 125, "publication_id_list": "10331643;10613898;11237011;11248244;11594753;11788603;11866528;11923310;11991719;12198491;12359228;12547821;12574164;12790796;13563527;14516279;14623864;14966140;15090606;15137942;15381699;15522782;15674325;15870080;16115876;16118205;1637327;16690024;17101804;17297443;17402747;17579211;17604275;17641676;17868694;17914902;18411268;19531469;19841671;20166139;20388704;2129526;21504897;21699903;21933152;21994945;22262461;22701565;22710082;22822066;23201127;23212377;23230272;23616928;23931759;24275569;24315374;24366607;24520911;24717514;24847004;25418920;25531177;25576301;25892735;26090577;26504172;26923599;26992070;27496948;27642048;27920218;27940755;28377575;28396416;28832583;29242379;29301859;29388319;29557506;29932645;30120231;30410026;30429286;30524438;30779550;31154438;31327635;31530632;31695197;31844290;31848261;32157095;32488085;32502341;32897882;32906142;32938616;33087354;33257573;33592498;33888598;33912179;33968037;33981976;34171305;34357683;34561969;34704252;34943861;35051231;35561310;35868311;35870450;35944895;36629048;37938771;4349867;7623837;8182091;8289818;8527488;8575745;8809081;9473669", "class_list": "", "function": "An autosomal recessive defect in NADK2 causes mitochondrial NADPH deficiency with secondary deficiencies in several mitochondrial processes including polyunsaturated fatty acid oxidation and lysine degradation., [RefSeq, PubMed]; Crystal structure of human NADK2 reveals a dimeric organization and active site occlusion by lysine acetylation., [RefSeq, PubMed]; Exhibits NAD kinase activity, utilizing ATP or inorganic polyphosphate, and is localized in mitochondria of HEK293A cells, [RefSeq, PubMed]; MNADK is localized to mitochondria in Hep G2 cells, and a recombinant MNADK showed NAD kinase activity. MNADK is abundant in mitochondrion-rich tissues, such as liver. MNADK expression was suppressed in human liver tumors. Identification of MNADK immediately suggests a model in which NADK and MNADK are responsible for de novo synthesis of NADP(+) in cytosol and mitochondria, respectively. Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial NAD(+) kinase that phosphorylates NAD(+) to yield NADP(+). Can use both ATP or inorganic polyphosphate as the phosphoryl donor. Also has weak NADH kinase activity in vitro; however NADH kinase activity is much weaker than the NAD(+) kinase activity and may not be relevant in vivo., [UniProtKB, PubMed]; Mitochondrial NADP(H) generation is essential for proline biosynthesis., [RefSeq, PubMed]; Our findings also clarify the mechanism underlying NADK2 deficiency and suggest that this disease should be ruled out in cases of hyperlysinemia, especially those with visual loss, and neurological phenotypes. Review article, [RefSeq, PubMed]; The mitochondrial NAD kinase functions as a major metabolic regulator upon increased energy demand. GeneRIF: Deleting MNADK (NADK2) in mice reduced fat oxidation upon energy demand triggered by endurance exercise or fasting. NADK2 is a major metabolic regulator upon increased energy demand., [RefSeq, PubMed]; The use of whole exome sequencing has allowed us to identify a new homozygous mutation in NADK2, leading to a premature stop codon and absence of protein. To our knowledge this is the second reported individual with mutations in NADK2., [RefSeq, PubMed]; This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B5MC93;Q6UTX5;Q96NM0", "ec_number_list": [ { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "2.7.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.23", "type": "external" }, { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "4.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.2", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "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": "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": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "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": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "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": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "2.3.3.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.10", "type": "external" }, { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.2.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.2", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.7.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" } ], "go_molecular_function": "GO:0003951 NAD+ kinase activity;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006741 NADP+ biosynthetic process;GO:0019674 NAD+ metabolic process", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q4G0N4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TBK1-1", "uniprot_id": [ { "id": "N42L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TBK1", "type": "external" } ], "mass": 28981.0, "length": 243, "protein_name": "NEDD4-binding protein 2-like 1", "gene_name": "N4BP2L1", "organism": "Human", "refseq_name": "NEDD4-binding protein 2-like 1 isoform 2", "refseq_ac": [ { "id": "NP_001073159", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073159", "type": "external" } ], "gene_names_uniprotkb": "N4BP2L1; CG081", "gene_names_refseq": "CG018; N4BP2L1", "protein_names_uniprotkb": "NEDD4-binding protein 2-like 1", "protein_names_refseq": "NEDD4-binding protein 2-like 1 isoform 2; hypothetical gene CG018", "tax_id": 9606, "disease": "", "pathway": " (hsa:90634)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;18991276;21850230;27184799;28904123;29557506;31844290;38910572", "class_list": "", "function": "Cox proportional hazards analysis identified N4BP2L1 expression as an independent predictor of disease-free survival, [RefSeq, PubMed]; MicroRNA-150-5p-mediated Inhibition of Cell Proliferation, G1/S Transition, and Migration in Bladder Cancer through Targeting NEDD4-binding Protein 2-like 1 Gene., [RefSeq, PubMed]; Might play a role in adipocyte differentiation and triglyceride accumulation., [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": "A4QN21;Q5TBK0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q5TBK1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PIU2-1", "uniprot_id": [ { "id": "NCEH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PIU2", "type": "external" } ], "mass": 45808.0, "length": 408, "protein_name": "Neutral cholesterol ester hydrolase 1", "gene_name": "NCEH1", "organism": "Human", "refseq_name": "neutral cholesterol ester hydrolase 1 isoform c", "refseq_ac": [ { "id": "NP_001139749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139749", "type": "external" } ], "gene_names_uniprotkb": "NCEH1; AADACL1; KIAA1363", "gene_names_refseq": "AADACL1; NCEH1; NCEH", "protein_names_uniprotkb": "Neutral cholesterol ester hydrolase 1; 2-acetyl MAGE hydrolase; 3.1.1.-; 3.1.1.71; Acetylalkylglycerol acetylhydrolase; Arylacetamide deacetylase-like 1; NCEH", "protein_names_refseq": "2-acetyl MAGE hydrolase; acetylalkylglycerol acetylhydrolase; alkylacetylglycerol acetylhydrolase; arylacetamide deacetylase-like 1; neutral cholesterol ester hydrolase 1 isoform c", "tax_id": 9606, "disease": "", "pathway": " (hsa:57552); (R-HSA-8964038)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10.1101/2023.09.13.557529;10224102;10438503;11237011;11584272;12149457;12221107;12464675;15166224;15265030;16179341;17018531;17052608;1718995;17452316;18644789;18772377;18782767;19141679;19159218;19196236;19563754;19592704;19851296;20198315;20947831;21136679;221835;22764087;24190977;24715725;24868095;25576301;25645385;25699256;25915661;26474739;27015452;2722848;27452731;28934392;29557506;29741879;29786170;30484775;31154438;31844290;32157095;32321446;32350084;32357974;32488085;32938616;32983136;33091337;33141586;33214551;33219617;33298915;33537174;33592498;33866776;33912179;33968037;34019948;34171305;34185709;34357683;34405274;34725712;35051231;35101424;35254053;35580925;36010968;36215666;36241641;36284347;37074911;38665916;39531497;40596516;8049197;8112342;8146180;8407899;9705237;9756920", "class_list": "glycogene", "function": "Authors discovered that the presence of cholesterol, LDLR-mediated cholesterol endocytosis, and cholesterol efflux are all essential to NCEH-1-mediated neuroprotection. In protecting from alpha-synuclein neurotoxicity, NCEH-1 also stimulates cholesterol-derived neurosteroid formation and lowers cellular reactive oxygen species in mitochondria., [RefSeq, PubMed]; Hydrolyzes 2-acetyl monoalkylglycerol ether (1-O-alkyl-2-acetyl-sn-glycerol), the penultimate precursor of the pathway for de novo synthesis of platelet-activating factor (PubMed:17052608). May be responsible for the hydrolysis of cholesterol esters (such as cholesteryl (9Z-octadecenoate)) in macrophages (By similarity). Also involved in organ detoxification by hydrolyzing exogenous organophosphorus compounds (By similarity). May contribute to cancer pathogenesis by promoting tumor cell migration (PubMed:17052608)., [UniProtKB, PubMed, UniProtKB]; KIAA1363 affects retinyl ester turnover in cultured murine and human hepatic stellate cells., [RefSeq, PubMed]; NAD(P)-dependent steroid dehydrogenase-like protein and neutral cholesterol ester hydrolase 1 serve as novel markers for early detection of gastric cancer identified using quantitative proteomics., [RefSeq, PubMed]; NCEH is responsible for a major part of nCEH activity in macrophages and may be a potential therapeutic target for the prevention of atherosclerosis., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Psoriasis inflammation induced microRNA targets NCEH1 in underlying subcutaneous adipose tissue., [RefSeq, PubMed]; Retinoic acid receptor-related orphan receptor alpha reduces lipid droplets by upregulating neutral cholesterol ester hydrolase 1 in macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; The KIAA1363, an uncharacterized enzyme highly elevated in aggressive cancer cells, serves as a central node in an ether lipid signaling network that bridges platelet-activating factor and lysophosphatidic acid., [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": 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": 374, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 23, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B7Z2K4;B7Z3A1;B7Z5U2;B7Z906;B7ZAW6;F5H7K4;Q86WZ1;Q9P2I4", "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": "3.1.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.1", "type": "external" }, { "id": "3.1.1.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.56", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.1.79", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.79", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.1.71", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.71", "type": "external" } ], "go_molecular_function": "GO:0004771 sterol ester esterase activity;GO:0042301 phosphate ion binding;GO:0017171 serine hydrolase activity;GO:0047378 acetylalkylglycerol acetylhydrolase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0016042 lipid catabolic process;GO:0034383 low-density lipoprotein particle clearance;GO:0046485 ether lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "Q6PIU2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100100000000.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6T4R5-1", "uniprot_id": [ { "id": "NHS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6T4R5", "type": "external" } ], "mass": 179135.0, "length": 1651, "protein_name": "Actin remodeling regulator NHS", "gene_name": "NHS", "organism": "Human", "refseq_name": "actin remodeling regulator NHS isoform 2", "refseq_ac": [ { "id": "NP_001129496", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129496", "type": "external" } ], "gene_names_uniprotkb": "NHS", "gene_names_refseq": "CTRCT40; CXN; NHS", "protein_names_uniprotkb": "Actin remodeling regulator NHS; Congenital cataracts and dental anomalies protein; Nance-Horan syndrome protein", "protein_names_refseq": "Nance-Horan syndrome (congenital cataracts and dental anomalies); actin remodeling regulator NHS isoform 2; actin remodeling regulator NHS; congenital cataracts and dental anomalies protein", "tax_id": 9606, "disease": "Nance-Horan syndrome (Disease Ontology:DOID:0060599); cataract 40 (Disease Ontology:DOID:0110272)", "pathway": " (hsa:4810); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013423)", "pathway_count": 4, "publication_count": 275, "publication_id_list": "10.1101/2023.09.13.557529;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10699171;10699464;10847683;10873802;10958683;11007481;11058585;11085924;11145705;11149925;11237011;11373293;11396949;11431473;11432776;11584276;11672528;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11919634;11956649;11961559;12071859;12093360;12096337;12195014;12221096;12351724;12432077;12531887;12546821;12547822;12650940;12665586;12857875;12877655;12923183;14512443;14514689;14564667;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15169870;15302923;15339924;15342493;15466011;15485661;15507211;15542837;15579468;15601624;15611138;15728722;15814684;15850391;15858067;15897194;16002401;16081809;16112081;16116428;16184169;16243035;16243036;16473593;16492808;16507994;16519628;1660188;16636067;16675532;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16959974;16964243;16968698;17060455;17077126;17145773;17158234;17196961;17214551;17244649;17269730;17583407;17599059;17698854;17702745;17765681;17804252;17976533;18006505;18045877;18056264;18191593;18218625;18249095;18347018;18396277;18426980;18653540;18662984;18669648;18697831;18838382;19269969;19414485;19447104;19494238;19534724;19605563;19673492;19713215;19934221;20332100;20400958;20460433;20679435;20810653;21148482;21151158;21378159;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22608513;22734669;22970203;23092983;23186163;23209303;23255595;23288169;23434736;23572525;23707487;23718289;23757206;23870057;23940355;24086303;24259668;24335996;24352656;24623723;24859002;24933155;24960694;25024229;25211221;25428919;25645385;25704760;25721503;25795300;25862245;26016997;26024233;26129894;26529257;26566883;26628301;26887924;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27806292;28114311;28196833;28356423;29089502;29358323;29382922;29402928;30642278;30853411;31154438;31389670;31755796;31844290;31871319;32161166;32203420;32303606;32938616;33968037;34171305;35051231;35254053;35494241;36284347;39894887;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9252344;9305890;9438849;9490638;9497316;9582072;9659915;9670022;9705280;9792683;9822598;9843499;9988689", "class_list": "", "function": "A novel small deletion in the NHS gene is associated with Nance-Horan syndrome in a Chinese pedigree. Publication Status: Online-Only, [RefSeq, PubMed]; Deleterious NHS mutations are associated with Nance Horan syndrome., [RefSeq, PubMed]; Key functions in the regulation of eye, tooth, brain, and craniofacial development, [RefSeq, PubMed]; Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline., [RefSeq, PubMed]; May function in cell morphology by maintaining the integrity of the circumferential actin ring and controlling lamellipod formation. Involved in the regulation eye, tooth, brain and craniofacial development., [UniProtKB, PubMed]; Nance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This disorder is caused by mutations in the NHS gene. However, NHS may be difficult to detect in individuals with subtle facial dysmorphism and dental abnormalities in whom congenital cataracts are the primary clinical manifestations. Publication Status: Online-Only, [RefSeq, PubMed]; These data identify NHS as a new regulator of actin remodelling., [RefSeq, PubMed]; This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 34, "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": "B7ZVX8;E2DH69;Q5J7Q0;Q5J7Q1;Q68DR5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005923 bicellular tight junction;GO:0005925 focal adhesion;GO:0030027 lamellipodium;GO:0030054 cell junction", "go_biological_process": "GO:0030154 cell differentiation;GO:0002088 lens development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 28.0, "record_id": "Q6T4R5-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N660-1", "uniprot_id": [ { "id": "NBPFF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N660", "type": "external" } ], "mass": 77563.0, "length": 670, "protein_name": "NBPF family member NBPF15", "gene_name": "NBPF15", "organism": "Human", "refseq_name": "NBPF family member NBPF15 isoform 1", "refseq_ac": [ { "id": "NP_001164226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164226", "type": "external" } ], "gene_names_uniprotkb": "NBPF15; NBPF16", "gene_names_refseq": "AB14; AG3; NBPF15; NBPF16", "protein_names_uniprotkb": "NBPF family member NBPF15; Neuroblastoma breakpoint family member 15; Neuroblastoma breakpoint family member 16", "protein_names_refseq": "NBPF family member NBPF15 isoform 1; NBPF family member NBPF15; neuroblastoma breakpoint family member 15; neuroblastoma breakpoint family, member 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:284565)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;16079250;28904123;31808794;36010968", "class_list": "", "function": "This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013]., [RefSeq]; We suggest that the entanglements between the mosaic disorder-ordered segments in NBPF15 N terminus have triggered the multiple types of aggregates and phase transition of NBPF15 proteins, which could be associated with Olduvai-related cognitive dysfunction diseases, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A8MPT6;Q3BBV9;Q5SXJ2;Q8IX77", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8N660-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7R0-1", "uniprot_id": [ { "id": "NANG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7R0", "type": "external" } ], "mass": 26880.0, "length": 232, "protein_name": "Putative homeobox protein NANOG2", "gene_name": "NANOGP1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "NANOGP1; NANOG2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative homeobox protein NANOG2", "protein_names_refseq": "", "tax_id": 9606, "disease": "colon cancer (Disease Ontology:DOID:219)", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "15108323;15233988;16469101;30379171", "class_list": "", "function": "Probable transcriptional regulator., [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": "", "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_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:0008284 positive regulation of cell population proliferation;GO:0030154 cell differentiation;GO:0019827 stem cell population maintenance", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8N7R0-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NC67-1", "uniprot_id": [ { "id": "NETO2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NC67", "type": "external" } ], "mass": 59393.0, "length": 525, "protein_name": "Neuropilin and tolloid-like protein 2", "gene_name": "NETO2", "organism": "Human", "refseq_name": "neuropilin and tolloid-like protein 2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001188406", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188406", "type": "external" } ], "gene_names_uniprotkb": "NETO2; BTCL2; PRO4401", "gene_names_refseq": "BTCL2; NEOT2; NETO2", "protein_names_uniprotkb": "Neuropilin and tolloid-like protein 2; Brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 2", "protein_names_refseq": "brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 2; neuropilin (NRP) and tolloid (TLL)-like 2; neuropilin and tolloid-like protein 2 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:81831)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;15340161;19217376;25502872;26992070;28514659;28904123;29242379;29351928;29437277;30315122;30779550;31844290;31848261;32157095;32350084;33390848;33392160;33592498;33912179;34357683;34552241;35154160;35251023;35580925;36639372;36738427;39894887", "class_list": "", "function": "Accessory subunit of neuronal kainate-sensitive glutamate receptors, GRIK2 and GRIK3. Increases kainate-receptor channel activity, slowing the decay kinetics of the receptors, without affecting their expression at the cell surface, and increasing the open probability of the receptor channels. Modulates the agonist sensitivity of kainate receptors. Slows the decay of kainate receptor-mediated excitatory postsynaptic currents (EPSCs), thus directly influencing synaptic transmission (By similarity)., [UniProtKB]; Determination of the neuropilin and tolloid-like protein 2 signal peptide cleavage site by N-terminal sequencing., [RefSeq, PubMed]; Glioma-derived LRIG3 interacts with NETO2 in tumor-associated macrophages to modulate microenvironment and suppress tumor growth. Publication Status: Online-Only, [RefSeq, PubMed]; Kainate receptor modulation by NETO2., [RefSeq, PubMed]; NETO2 promotes esophageal cancer progression by inducing proliferation and metastasis via PI3K/AKT and ERK pathway. Publication Status: Online-Only, [RefSeq, PubMed]; NETO2 promotes melanoma progression via activation of the Ca[2+]/CaMKII signaling pathway., [RefSeq, PubMed]; Rat neto2 plays a role in glutamate signaling in the brain by modulating the function of kainate receptors., [RefSeq, PubMed]; This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in rats encodes a protein that modulates glutamate signaling in the brain by regulating kainate receptor function. Expression of this gene may be a biomarker for proliferating infantile hemangiomas. A pseudogene of this gene is located on the long arm of chromosome 8. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "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": "J3KNF1;Q7Z381;Q8ND51;Q96SP4;Q9NVY8", "ec_number_list": [], "go_molecular_function": "GO:0035255 ionotropic glutamate receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098839 postsynaptic density membrane", "go_biological_process": "GO:0098696 regulation of neurotransmitter receptor localization to postsynaptic specialization membrane;GO:0099645 neurotransmitter receptor localization to postsynaptic specialization membrane", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q8NC67-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBE9-1", "uniprot_id": [ { "id": "NANP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBE9", "type": "external" } ], "mass": 27813.0, "length": 248, "protein_name": "N-acylneuraminate-9-phosphatase", "gene_name": "NANP", "organism": "Human", "refseq_name": "N-acylneuraminate-9-phosphatase", "refseq_ac": [ { "id": "NP_689880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689880", "type": "external" } ], "gene_names_uniprotkb": "NANP; C20orf147; HDHD4", "gene_names_refseq": "C20orf147; HDHD4; NANP; dJ694B14.3", "protein_names_uniprotkb": "N-acylneuraminate-9-phosphatase; 3.1.3.29; HDHD4; Haloacid dehalogenase-like hydrolase domain-containing protein 4; N-acetylneuraminate-9-phosphate phosphatase; Neu5Ac-9-Pase", "protein_names_refseq": "N-acetylneuraminate-9-phosphate phosphatase; N-acylneuraminate-9-phosphatase; Neu5Ac-9-Pase; haloacid dehalogenase-like hydrolase domain containing 4; haloacid dehalogenase-like hydrolase domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:140838); (R-HSA-4085001)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10191093;10206952;10330343;10334995;10405317;10431835;10504389;10536037;10581036;10742600;10749855;10861246;10947946;11062056;11279095;11528398;11602804;11751519;11916006;12177386;12235148;12473780;12603328;12668675;12743242;14235556;14962670;15136692;15213228;15501818;15576474;16147865;16237198;17123352;1756715;18632803;19797320;21081508;22692205;23747226;26992070;28834231;30379171;3136930;31844290;32157095;32938616;34171305;34357683;34405274;7252518;7559389;8333853;8591035;8611500;8631981;8920913;8985184;9010752;9199191;9822625;9826427", "class_list": "", "function": "Catalyzes the dephosphorylation of N-acylneuraminate 9-phosphate (Neu5Ac-9-P) to N-acetylneuraminic acid (Neu5Ac or sialic acid) (PubMed:14235556, PubMed:16237198, PubMed:23747226). Can also use N-glycoloylneuraminate 9-phosphate as substrate (PubMed:14235556)., [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": 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": "B3KP12;Q5JYN8;Q8TE97;Q9Y3N0", "ec_number_list": [ { "id": "3.1.3.29", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.29", "type": "external" } ], "go_molecular_function": "GO:0050124 N-acylneuraminate-9-phosphatase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006045 N-acetylglucosamine biosynthetic process;GO:0006055 CMP-N-acetylneuraminate biosynthetic process;GO:0046380 N-acetylneuraminate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q8TBE9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDF5-3", "uniprot_id": [ { "id": "NETO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDF5", "type": "external" } ], "mass": 60191.0, "length": 533, "protein_name": "Neuropilin and tolloid-like protein 1", "gene_name": "NETO1", "organism": "Human", "refseq_name": "neuropilin and tolloid-like protein 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_620552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620552", "type": "external" } ], "gene_names_uniprotkb": "NETO1; BTCL1", "gene_names_refseq": "BCTL1; BTCL1; NETO1", "protein_names_uniprotkb": "Neuropilin and tolloid-like protein 1; Brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 1", "protein_names_refseq": "brain-specific transmembrane protein containing 2 CUB and 1 LDL-receptor class A domains protein 1; neuropilin (NRP) and tolloid (TLL)-like 1; neuropilin and tolloid-like protein 1 isoform 1 precursor; neuropilin and tolloid-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:81832)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11943477;19243221;25892735;26277340;28218747;29351928;29437277;29557506;29632046;32638511;33392160;33592498;33936100;34357683;35154160", "class_list": "", "function": "High neuropilin and tolloid-like 1 expression associated with metastasis and poor survival in epithelial ovarian cancer via regulation of actin cytoskeleton., [RefSeq, PubMed]; Involved in the development and/or maintenance of neuronal circuitry. Accessory subunit of the neuronal N-methyl-D-aspartate receptor (NMDAR) critical for maintaining the abundance of GRIN2A-containing NMDARs in the postsynaptic density. Regulates long-term NMDA receptor-dependent synaptic plasticity and cognition, at least in the context of spatial learning and memory (By similarity)., [UniProtKB]; Mouse neto1 plays a critical role in spatial learning and memory through the regulation of NMDAR subunit abundance at synapses., [RefSeq, PubMed]; Results suggested that the extracellular N-terminal region including the two CUB domains was largely responsible for the distinct regulatory effects of Neto1 and Neto2 on the desensitization properties of GluK1 homomeric receptors, [RefSeq, PubMed]; This gene encodes a transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. This protein is thought to play a critical role in spatial learning and memory by regulating the function of synaptic N-methyl-D-aspartic acid receptor complexes in the hippocampus. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2017]., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 35, "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": "Q86W85;Q8ND78;Q8TDF4", "ec_number_list": [], "go_molecular_function": "GO:0035255 ionotropic glutamate receptor binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005576 extracellular region;GO:0014069 postsynaptic density;GO:1904115 axon cytoplasm;GO:0060076 excitatory synapse", "go_biological_process": "GO:0007613 memory;GO:0008542 visual learning;GO:0048169 regulation of long-term neuronal synaptic plasticity;GO:0098696 regulation of neurotransmitter receptor localization to postsynaptic specialization membrane;GO:0099645 neurotransmitter receptor localization to postsynaptic specialization membrane", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8TDF5-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WTR8-1", "uniprot_id": [ { "id": "NET5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WTR8", "type": "external" } ], "mass": 53174.0, "length": 489, "protein_name": "Netrin-5", "gene_name": "NTN5", "organism": "Human", "refseq_name": "netrin-5 precursor", "refseq_ac": [ { "id": "NP_665806", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_665806", "type": "external" } ], "gene_names_uniprotkb": "NTN5", "gene_names_refseq": "NTN5", "protein_names_uniprotkb": "Netrin-5; Netrin-1-like protein", "protein_names_refseq": "netrin-1-like protein; netrin-5 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:126147)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;29557506;32502341", "class_list": "", "function": "Plays a role in neurogenesis. Prevents motor neuron cell body migration out of the neural tube., [UniProtKB, UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8N4X9;Q8WU63", "ec_number_list": [], "go_molecular_function": "GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005615 extracellular space;GO:0005604 basement membrane", "go_biological_process": "GO:0034446 substrate adhesion-dependent cell spreading;GO:0022008 neurogenesis", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8WTR8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92686-1", "uniprot_id": [ { "id": "NEUG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92686", "type": "external" } ], "mass": 7618.0, "length": 78, "protein_name": "Neurogranin", "gene_name": "NRGN", "organism": "Human", "refseq_name": "neurogranin", "refseq_ac": [ { "id": "NP_001119653", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119653", "type": "external" } ], "gene_names_uniprotkb": "NRGN", "gene_names_refseq": "NRGN; RC3; hng", "protein_names_uniprotkb": "Neurogranin; Ng; RC3", "protein_names_refseq": "calmodulin-binding protein; neurogranin (protein kinase C substrate, RC3); neurogranin; protein kinase C substrate", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652); hypothyroidism (Disease Ontology:DOID:1459)", "pathway": " (hsa:4900); (R-HSA-9620244)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10075657;19713936;23462742;23828821;24129315;25502872;26154972;27862975;28218747;28449373;28832583;29437277;29493099;29557506;30410026;30429286;31154438;31217245;31844290;32373127;32983136;35051231;35461266;35580925;36010968;36481578;37938771;38359746;39242539;8080473;8929222;9143500;9329454;9499372", "class_list": "", "function": "Acts as a 'third messenger' substrate of protein kinase C-mediated molecular cascades during synaptic development and remodeling. Binds to calmodulin in the absence of calcium (By similarity)., [UniProtKB]; CSF neurogranin levels as a biomarker in Alzheimer's disease and frontotemporal lobar degeneration: a cross-sectional analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Increased levels of the synaptic proteins PSD-95, SNAP-25, and neurogranin in the cerebrospinal fluid of patients with Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Neurogranin (NRGN) is the human homolog of the neuron-specific rat RC3/neurogranin gene. This gene encodes a postsynaptic protein kinase substrate that binds calmodulin in the absence of calcium. The NRGN gene contains four exons and three introns. The exons 1 and 2 encode the protein and exons 3 and 4 contain untranslated sequences. It is suggested that the NRGN is a direct target for thyroid hormone in human brain, and that control of expression of this gene could underlay many of the consequences of hypothyroidism on mental states during development as well as in adult subjects. [provided by RefSeq, Jul 2008]., [RefSeq]; Neurogranin expression regulates mitochondrial function and redox balance in endothelial cells., [RefSeq, PubMed]; The diagnostic and prognostic value of serum neurogranin in acute ischemic stroke., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0070300 phosphatidic acid binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0012510 trans-Golgi network transport vesicle membrane;GO:0005829 cytosol;GO:0030424 axon;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0008306 associative learning;GO:1900273 positive regulation of long-term synaptic potentiation;GO:0021537 telencephalon development", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "Q92686-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NK8-1", "uniprot_id": [ { "id": "NDF6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NK8", "type": "external" } ], "mass": 38705.0, "length": 337, "protein_name": "Neurogenic differentiation factor 6", "gene_name": "NEUROD6", "organism": "Human", "refseq_name": "neurogenic differentiation factor 6", "refseq_ac": [ { "id": "NP_073565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073565", "type": "external" } ], "gene_names_uniprotkb": "NEUROD6; ATOH2; BHLHA2; My051", "gene_names_refseq": "Atoh2; MATH2; Math-2; NEUROD6; NEX1M; Nex1; bHLHa2", "protein_names_uniprotkb": "Neurogenic differentiation factor 6; Class A basic helix-loop-helix protein 2; NeuroD6; Protein atonal homolog 2; bHLHa2", "protein_names_refseq": "brain my051 protein; class A basic helix-loop-helix protein 2; neurogenic differentiation factor 6; protein atonal homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:63974)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12357074;19733838;25548427;26395074", "class_list": "", "function": "Activates E box-dependent transcription in collaboration with TCF3/E47. May be a trans-acting factor involved in the development and maintenance of the mammalian nervous system. Transactivates the promoter of its own gene (By similarity)., [UniProtKB]; Cloning and some features of a novel human gene, MATH2, which encodes a protein of 337 amino acid residues with a basic helix loop helix domain and exhibits 98% similarity to mouse Math2, [RefSeq, PubMed]; NeuroD6 serves as a possible biomarker for Alzheimer disease brains., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Single nucleotide polymorphisms in either the region of NEUROD6 or SNAP25 were significantly associated with Alzheimer's Disease, in APOE4+ females and APOE4+ males, respectively. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the NEUROD family of basic helix-loop-helix transcription factors. The encoded protein may be involved in the development and differentiation of the nervous system. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q548T9;Q9H3H6", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0070888 E-box binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0061564 axon development;GO:0007423 sensory organ development", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q96NK8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96TA1-1", "uniprot_id": [ { "id": "NIBA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96TA1", "type": "external" } ], "mass": 84138.0, "length": 746, "protein_name": "Protein Niban 2", "gene_name": "NIBAN2", "organism": "Human", "refseq_name": "protein Niban 2 isoform 2", "refseq_ac": [ { "id": "NP_001030611", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001030611", "type": "external" } ], "gene_names_uniprotkb": "NIBAN2; C9orf88; FAM129B", "gene_names_refseq": "C9orf88; FAM129B; MEG-3; MINERVA; NIBAN2; OC58; bA356B19.6", "protein_names_uniprotkb": "Protein Niban 2; MINERVA; Meg-3; Melanoma invasion by ERK; Niban-like protein 1; Protein FAM129B", "protein_names_refseq": "family with sequence similarity 129 member B; melanoma invasion by ERK; niban-like protein 1; protein Niban 2 isoform 2; protein Niban 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64855)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "15302935;16083285;16964243;17081983;17322306;18083107;18212344;18452278;18491316;18669648;18707149;18767875;19362540;19413330;19415658;19651622;19690332;20068231;20166139;21148485;21406692;23186163;24275569;25255805;25576301;25645385;25807930;26721396;26992070;27397612;27862975;28510447;28904123;29242379;29331515;29393594;29493099;29557506;29786170;30001391;30429286;30779550;30833945;31154438;31262713;31844290;31848261;32157095;32161166;32387766;32488085;32938616;32983136;33043033;33142954;33465208;33592498;33912179;33968037;33981976;34019948;34087483;34405274;34725712;35008409;35051231;35318648;35580925;36010968;36241641;36284347;37217939;37938771;38253038;38665916;40596516", "class_list": "", "function": "Activated EGFR phosphorylates the Y593 residue of the protein known as family with sequence similarity 129, member B (FAM129B), which is overexpressed in many types of human cancer., [RefSeq, PubMed]; May play a role in apoptosis suppression. May promote melanoma cell invasion in vitro., [UniProtKB, PubMed, PubMed]; Structural Insight on Functional Regulation of Human MINERVA Protein. Publication Status: Online-Only, [RefSeq, PubMed]; The rapid induction of apoptosis in FAM129B knockdown cells was reversed by co-transfection with recombinant FAM129B, indicating that its effect on apoptosis was specific., [RefSeq, PubMed]; We have demonstrated that FAM129B in cancer promotes Nrf2 activity by reducing its ubiquitination through competition with Nrf2 for Keap1 binding via its DLG and ETGE motifs. In addition, FAM129B reduces chemosensitivity by augmenting Nrf2 antioxidative signaling and confers poor prognosis in breast and lung cancer, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 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": 23, "reported_mutagensis": 18, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q4LE55;Q5VVW6;Q5VVW7;Q9BUS2;Q9NT35", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0032274 gonadotropin secretion;GO:0008285 negative regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q96TA1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BTX1-1", "uniprot_id": [ { "id": "NDC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BTX1", "type": "external" } ], "mass": 76305.0, "length": 674, "protein_name": "Nucleoporin NDC1", "gene_name": "NDC1", "organism": "Human", "refseq_name": "nucleoporin NDC1 isoform 2", "refseq_ac": [ { "id": "NP_001162023", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001162023", "type": "external" } ], "gene_names_uniprotkb": "NDC1; TMEM48", "gene_names_refseq": "NDC1; NEDAPA; NET3; TMEM48", "protein_names_uniprotkb": "Nucleoporin NDC1; Transmembrane protein 48; hNDC1", "protein_names_refseq": "nuclear division cycle 1 homolog; nucleoporin NDC1 isoform 2; nucleoporin NDC1; transmembrane protein 48", "tax_id": 9606, "disease": "neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima (MONDO:MONDO:0979875)", "pathway": " (hsa:55706); (R-HSA-1169408); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-6784531); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9615933); (R-HSA-9705671)", "pathway_count": 32, "publication_count": 465, "publication_id_list": 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"class_list": "", "function": "Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome., [RefSeq, PubMed]; Component of the nuclear pore complex (NPC), which plays a key role in de novo assembly and insertion of NPC in the nuclear envelope. Required for NPC and nuclear envelope assembly, possibly by forming a link between the nuclear envelope membrane and soluble nucleoporins, thereby anchoring the NPC in the membrane., [UniProtKB, PubMed, PubMed]; Human homologue NDC1/NET3 contains three FG repeats in the C-terminus, a feature of many nuclear pore proteins., [RefSeq, PubMed]; MiR-421 can suppress TMEM48 so that leads the non-small cancer cell lines (A549) to apoptosis., [RefSeq, PubMed]; NDC1 promotes hepatocellular carcinoma tumorigenesis by targeting BCAP31 to activate PI3K/AKT signaling., [RefSeq, PubMed]; TMEM48 promotes cell proliferation and invasion in cervical cancer via activation of the Wnt/beta-catenin 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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "B4DHA3;B4DQQ5;G3XA81;Q8NB76;Q9H9T6;Q9NSG3;Q9NSG4;Q9NVZ7", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0017056 structural constituent of nuclear pore", "go_cellular_component": "GO:0070762 nuclear pore transmembrane ring;GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006999 nuclear pore organization;GO:0006913 nucleocytoplasmic transport;GO:0015031 protein transport;GO:0051292 nuclear pore complex assembly;GO:0051028 mRNA transport", "synthesized_glycan_count": 0, "hit_score": 47.1, "record_id": "Q9BTX1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H094-1", "uniprot_id": [ { "id": "NBPF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H094", "type": "external" } ], "mass": 72951.0, "length": 633, "protein_name": "NBPF family member NBPF3", "gene_name": "NBPF3", "organism": "Human", "refseq_name": "NBPF family member NBPF3 isoform 2", "refseq_ac": [ { "id": "NP_001243345", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243345", "type": "external" } ], "gene_names_uniprotkb": "NBPF3; L7", "gene_names_refseq": "AE2; NBPF3", "protein_names_uniprotkb": "NBPF family member NBPF3; Neuroblastoma breakpoint family member 3; Protein AE2; Protein SHIIIa4", "protein_names_refseq": "NBPF family member NBPF3 isoform 2; NBPF family member NBPF3; neuroblastoma breakpoint family member 3; protein SHIIIa4", "tax_id": 9606, "disease": "", "pathway": " (hsa:84224)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11230166;11237011;15334068;16079250;17391723;26992070;29242379;29557506;29688875;29786170;30192525;31217245;31844290;32157095;32387766;33298915", "class_list": "", "function": "Failed to find a significant association between nbpf3 and schizophrenia., [RefSeq, PubMed]; Study shows that an NBPF gene lacking this insertion, NBPF3, is expressed in a variety of tissues; thus the effect of HERV(K) LTR insertion on NBPF gene expression remains unknown. Erratum:[Virology. 2008 Jan 20;370(2):451], [RefSeq, PubMed]; This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. DUF1220 copy number variations in human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Feb 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": 28, "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": "A8K965;B4DSP2;I3L0I8;Q3BBW1;Q5VTG2;Q5VTG3;Q5VTG4;Q8IX78;Q8ND86;Q8TC96", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9H094-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H0A0-1", "uniprot_id": [ { "id": "NAT10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H0A0", "type": "external" } ], "mass": 115730.0, "length": 1025, "protein_name": "RNA cytidine acetyltransferase", "gene_name": "NAT10", "organism": "Human", "refseq_name": "RNA cytidine acetyltransferase isoform b", "refseq_ac": [ { "id": "NP_001137502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137502", "type": "external" } ], "gene_names_uniprotkb": "NAT10; ALP; KIAA1709", "gene_names_refseq": "ALP; Kre33; NAT10; NET43", "protein_names_uniprotkb": "RNA cytidine acetyltransferase; 18S rRNA cytosine acetyltransferase; 2.3.1.-; N-acetyltransferase 10; N-acetyltransferase-like protein; hALP", "protein_names_refseq": "18S rRNA cytosine acetyltransferase; N-acetyltransferase 10 (GCN5-related); N-acetyltransferase-like protein; RNA cytidine acetyltransferase isoform b; RNA cytidine acetyltransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:55226); (R-HSA-6790901)", "pathway_count": 2, "publication_count": 145, "publication_id_list": "10.1101/2023.09.13.557529;10606270;11081632;11230166;11237011;11466336;11935223;11978965;12417735;12429849;14592445;15199136;16381836;16782898;17180247;17631499;17636026;18082603;18452278;18669648;18677378;19007248;19033376;19303003;19463982;19608861;19651622;19691289;20047967;20068231;23186163;23391857;23481700;24086612;24366607;24714562;24715725;24786082;25411247;25418920;25525153;25576301;25645385;25653167;25802875;25810538;25851604;25892735;26085946;26154972;26196125;26375851;26728094;26811146;26882543;26929215;26992070;27084949;27397612;27600516;27846572;27862975;27920218;27993683;28218747;28228285;28446606;28510447;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29605689;29632046;29632711;29769354;29786170;29789417;30165671;30315122;30379171;30429286;30449621;30833945;31217245;31530632;31722219;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34211107;34509645;34516797;34561969;34725712;34932366;35051231;35154160;35251023;35318648;35561310;35580925;35679869;36241641;36284347;36581221;38665916;38961519;38990269;39251905;39477944;40596516;40914422;9211966;9512526", "class_list": "", "function": "Chromosome de-condensation needs the function of an inner nuclear membrane (INM) protein hsSUN1 and a membrane-associated histone acetyltransferase (HAT), hALP., [RefSeq, PubMed]; HALP is a nucleolar protein, and the nucleolar localization is mediated by its carboxy terminal domain., [RefSeq, PubMed]; N-acetyltransferase 10 facilitates tumorigenesis of diffuse large B-cell lymphoma by regulating AMPK/mTOR signalling through N4-acetylcytidine modification of SLC30A9., [RefSeq, PubMed]; N-acetyltransferase 10 is implicated in the pathogenesis of cycling T cell-mediated autoimmune and inflammatory disorders in mice. Publication Status: Online-Only, [RefSeq, PubMed]; NAT10 Overexpression Promotes Tumorigenesis and Epithelial-Mesenchymal Transition Through AKT Pathway in Gastric Cancer., [RefSeq, PubMed]; NAT10-mediated ac[4]C acetylation of TFRC promotes sepsis-induced pulmonary injury through regulating ferroptosis. Publication Status: Online-Only, [RefSeq, PubMed]; RNA cytidine acetyltransferase that catalyzes the formation of N(4)-acetylcytidine (ac4C) modification on mRNAs, 18S rRNA and tRNAs (PubMed:25411247, PubMed:25653167, PubMed:30449621, PubMed:35679869). Catalyzes ac4C modification of a broad range of mRNAs, enhancing mRNA stability and translation (PubMed:30449621, PubMed:35679869). mRNA ac4C modification is frequently present within wobble cytidine sites and promotes translation efficiency (PubMed:30449621). Mediates the formation of ac4C at position 1842 in 18S rRNA (PubMed:25411247). May also catalyze the formation of ac4C at position 1337 in 18S rRNA (By similarity). Required for early nucleolar cleavages of precursor rRNA at sites A0, A1 and A2 during 18S rRNA synthesis (PubMed:25411247, PubMed:25653167). Catalyzes the formation of ac4C in serine and leucine tRNAs (By similarity). Requires the tRNA-binding adapter protein THUMPD1 for full tRNA acetyltransferase activity but not for 18S rRNA acetylation (PubMed:25653167). In addition to RNA acetyltransferase activity, also able to acetylate lysine residues of proteins, such as histones, microtubules, p53/TP53 and MDM2, in vitro (PubMed:14592445, PubMed:17631499, PubMed:19303003, PubMed:26882543, PubMed:27993683, PubMed:30165671). The relevance of the protein lysine acetyltransferase activity is however unsure in vivo (PubMed:30449621). Activates telomerase activity by stimulating the transcription of TERT, and may also regulate telomerase function by affecting the balance of telomerase subunit assembly, disassembly, and localization (PubMed:14592445, PubMed:18082603). Involved in the regulation of centrosome duplication by acetylating CENATAC during mitosis, promoting SASS6 proteasome degradation (PubMed:31722219). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The above results suggested that NAT10 could be involved in DNA damage response and increased cellular resistance to genotoxicity., [RefSeq, PubMed]; The investigation suggested that hALP influences the activity of histone acetylation and could up-regulate telomerase activity through transactivation of hTERT promoter., [RefSeq, PubMed]; The protein encoded by this gene is an RNA cytidine acetyltransferase involved in histone acetylation, tRNA acetylation, the biosynthesis of 18S rRNA, and the enhancement of nuclear architecture and chromatin organization. [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": 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": 12, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 20, "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": "B4DFD5;E7ESU4;E9PMN9;Q86WK5;Q9C0F4;Q9HA61;Q9NVF2", "ec_number_list": [ { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0051392 tRNA cytidine N4-acetyltransferase activity;GO:1990883 18S rRNA cytidine N-acetyltransferase activity;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0070182 DNA polymerase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016020 membrane;GO:0030496 midbody", "go_biological_process": "GO:0010824 regulation of centrosome duplication;GO:0000154 rRNA modification;GO:0051391 tRNA acetylation;GO:1904812 rRNA acetylation involved in maturation of SSU-rRNA;GO:0006417 regulation of translation", "synthesized_glycan_count": 0, "hit_score": 15.3, "record_id": "Q9H0A0-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2A3-1", "uniprot_id": [ { "id": "NGN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2A3", "type": "external" } ], "mass": 28621.0, "length": 272, "protein_name": "Neurogenin-2", "gene_name": "NEUROG2", "organism": "Human", "refseq_name": "neurogenin-2", "refseq_ac": [ { "id": "NP_076924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_076924", "type": "external" } ], "gene_names_uniprotkb": "NEUROG2; ATOH4; BHLHA8; NGN2", "gene_names_refseq": "Atoh4; Math4A; NEUROG2; NGN2; bHLHa8; ngn-2", "protein_names_uniprotkb": "Neurogenin-2; Class A basic helix-loop-helix protein 8; NGN-2; Protein atonal homolog 4; bHLHa8", "protein_names_refseq": "class A basic helix-loop-helix protein 8; neurogenin-2; protein atonal homolog 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:63973)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "17784840;29242379;31217245;33141586;33536579;34358451;34549796;36215666;38385475;38446849", "class_list": "", "function": "Cend1 and Neurog2 efficiently reprogram human cortical astrocytes to neural precursor cells and induced-neurons., [RefSeq, PubMed]; Expression of Ngn2 during the differentiation of neuronl human embryo stem cells., [RefSeq, PubMed]; Generation of human excitatory forebrain neurons by cooperative binding of proneural NGN2 and homeobox factor EMX1., [RefSeq, PubMed]; MiR-211 determines brain metastasis specificity through SOX11/NGN2 axis in triple-negative breast cancer., [RefSeq, PubMed]; NGN2 induces diverse neuron types from human pluripotency., [RefSeq, PubMed]; Neurogenin-2 induced neuronal differentiation in co-cultured bone marrow stromal and neonatal cortical cells., [RefSeq, PubMed]; This gene encodes a neural-specific basic helix-loop-helix (bHLH) transcription factor that can specify a neuronal fate on ectodermal cells and is expressed in neural progenitor cells within the developing central and peripheral nervous systems. The protein product of this gene also plays a role in the differentiation and survival of midbrain dopaminergic neurons. [provided by RefSeq, Apr 2012]., [RefSeq]; Transcriptional regulator. Involved in neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3')., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q8N416", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0070888 E-box binding;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0030900 forebrain development;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0061564 axon development;GO:0007423 sensory organ development", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9H2A3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCH0-1", "uniprot_id": [ { "id": "NCK5L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCH0", "type": "external" } ], "mass": 139462.0, "length": 1334, "protein_name": "Nck-associated protein 5-like", "gene_name": "NCKAP5L", "organism": "Human", "refseq_name": "nck-associated protein 5-like", "refseq_ac": [ { "id": "NP_001032895", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032895", "type": "external" } ], "gene_names_uniprotkb": "NCKAP5L; CEP169; FP1193; KIAA1602", "gene_names_refseq": "Cep169; FP1193; KIAA1602; NCKAP5L", "protein_names_uniprotkb": "Nck-associated protein 5-like; Centrosomal protein of 169 kDa; Cep169; NCKAP5-like", "protein_names_refseq": "NCKAP5-like; centrosomal protein of 169 kDa; nck-associated protein 5-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:57701)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;15498874;16964243;18669648;19690332;20068231;23186163;23481700;25576301;26482847;26485573;26549230;29269292;30833945;31848261;32161166;35254053;39894887", "class_list": "", "function": "Our findings suggest that Cep169 regulates cell growth by interacting with multiple proteins., [RefSeq, PubMed]; Regulates microtubule organization and stabilization. Promotes microtubule growth and bundling formation and stabilizes microtubules by increasing intense acetylation of microtubules (PubMed:26482847, PubMed:26485573). Both tubulin-binding and homodimer formation are required for NCKAP5L-mediated microtubule bundle formation (PubMed:26485573)., [UniProtKB, PubMed, PubMed]; These data suggest that the dissociation of Cep169 from centrosomes is controlled by Cdk1/Cyclin B during mitosis, and that Cep169 might regulate MT dynamics of mitotic spindle., [RefSeq, PubMed]; These results show that Cep169 targets microtubule tips and regulates stability of microtubules with CDK5RAP2. Publication Status: Online-Only, [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": 12, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 27, "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": "Q2TB26;Q71RH1;Q8N4W1;Q96HX2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0035371 microtubule plus-end", "go_biological_process": "GO:0007019 microtubule depolymerization;GO:0001578 microtubule bundle formation", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9HCH0-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXR1-2", "uniprot_id": [ { "id": "NDE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXR1", "type": "external" } ], "mass": 37721.0, "length": 335, "protein_name": "Nuclear distribution protein nudE homolog 1", "gene_name": "NDE1", "organism": "Human", "refseq_name": "nuclear distribution protein nudE homolog 1", "refseq_ac": [ { "id": "NP_001137451", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137451", "type": "external" } ], "gene_names_uniprotkb": "NDE1; NUDE", "gene_names_refseq": "HOM-TES-87; LIS4; MHAC; NDE1; NDE; NUDE1; NUDE", "protein_names_uniprotkb": "Nuclear distribution protein nudE homolog 1; NudE", "protein_names_refseq": "LIS1-interacting protein NUDE1, rat homolog; epididymis secretory sperm binding protein; nuclear distribution protein nudE homolog 1; nudE nuclear distribution E homolog 1; nudE nuclear distribution gene E homolog 1", "tax_id": 9606, "disease": "lissencephaly (Disease Ontology:DOID:0050453); lissencephaly 4 (Disease Ontology:DOID:0112235); epilepsy (Disease Ontology:DOID:1826); Rubinstein-Taybi syndrome (Disease Ontology:DOID:1933); NDE1-related microhydranencephaly (MONDO:MONDO:0011504)", "pathway": " (hsa:54820); (R-HSA-141430); (R-HSA-141444); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-2565942); (R-HSA-380259); (R-HSA-380270); (R-HSA-380284); (R-HSA-380320); (R-HSA-5620912); (R-HSA-5663220); (R-HSA-68877); (R-HSA-8854518); (R-HSA-9648025)", "pathway_count": 15, "publication_count": 203, "publication_id_list": "10411507;10600384;10678165;10958683;11076968;11081627;11181178;11371342;11509732;11535616;11804586;11956313;12006501;12194817;12207013;12221128;12364337;12427674;12429848;12556484;12577064;12679384;12732141;12805219;12852856;12852857;13678582;14580337;14730319;15006353;15085137;15339662;15498487;15507212;15592455;15705883;15723797;15737063;15864301;15866170;15944396;16291865;16292343;16357211;16439214;16462731;16541025;16547491;16622419;16622420;16682347;16682949;16890155;16890222;16943183;16964243;17030981;17112726;17113138;17129783;17196341;17198702;17287340;1737036;17574030;17600710;17646400;17719545;18001770;18037885;18097444;18220336;18378770;18452278;18477460;18521620;18566290;18615013;18669648;18691976;18694559;18716626;18801063;18923426;19004860;19081074;19350017;19651622;19664994;19696148;19815554;19927128;19940019;19965387;20030946;20068231;20101212;20230748;20308558;20399632;20558667;20591975;21111234;21148482;21273506;21347367;21397845;21422230;21529751;21529752;21548880;21565611;21576392;21620453;21677187;21725307;21792235;21868368;21878504;21987589;22094460;22094468;22179047;22275430;22365832;22433857;22526350;22608513;22641346;22653444;22790947;22885700;23141531;23141541;23186163;23222643;23253480;23301498;23348840;23400999;23530209;23747070;23769972;23789104;23801653;23921553;24053599;24089205;24231678;24275569;24469809;24914801;24982133;25047611;25313408;25532896;25576301;25740311;25789526;25892735;26375851;26728094;27600516;27920218;28832583;29242379;29493099;29508533;29557506;29769354;29786170;29930206;30410026;31409757;31844290;32157095;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33392160;33402344;33592498;33717175;33776808;33968037;34260926;34509645;34561969;34793709;35051231;36284347;38194050;38466053;7769006;7790358;8838651;9649308;9649503;9892021", "class_list": "", "function": "Comprehensive analysis indicated that NDE1 is a potential biomarker for pan-cancer and promotes bladder cancer progression., [RefSeq, PubMed]; LIS1 deficiency adversely affects the migration and differentiation of DCX- and Reelin-positive neurons., [RefSeq, PubMed]; Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations. Publication Status: Online-Only, [RefSeq, PubMed]; Required for centrosome duplication and formation and function of the mitotic spindle. Essential for the development of the cerebral cortex. May regulate the production of neurons by controlling the orientation of the mitotic spindle during division of cortical neuronal progenitors of the proliferative ventricular zone of the brain. Orientation of the division plane perpendicular to the layers of the cortex gives rise to two proliferative neuronal progenitors whereas parallel orientation of the division plane yields one proliferative neuronal progenitor and a postmitotic neuron. A premature shift towards a neuronal fate within the progenitor population may result in an overall reduction in the final number of neurons and an increase in the number of neurons in the deeper layers of the cortex. Acts as a RAB9A/B effector that tethers RAB9-associated late endosomes to the dynein motor for their retrograde transport to the trans-Golgi network (PubMed:34793709)., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a member of the nuclear distribution E (NudE) family of proteins. The encoded protein is localized at the centrosome and interacts with other centrosome components as part of a multiprotein complex that regulates dynein function. This protein plays an essential role in microtubule organization, mitosis and neuronal migration. Mutations in this gene cause lissencephaly 4, a disorder characterized by lissencephaly, severe brain atrophy, microcephaly, and severe cognitive disability. Alternative splicing results in multiple transcript 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 16, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q49AQ2", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding;GO:0019904 protein domain specific binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005874 microtubule;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0007059 chromosome segregation;GO:0016477 cell migration;GO:0051301 cell division;GO:0001764 neuron migration;GO:0021987 cerebral cortex development", "synthesized_glycan_count": 0, "hit_score": 20.6, "record_id": "Q9NXR1-2", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHQ1-1", "uniprot_id": [ { "id": "NARF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHQ1", "type": "external" } ], "mass": 51156.0, "length": 456, "protein_name": "Nuclear prelamin A recognition factor", "gene_name": "NARF", "organism": "Human", "refseq_name": "nuclear prelamin A recognition factor isoform c", "refseq_ac": [ { "id": "NP_001033707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033707", "type": "external" } ], "gene_names_uniprotkb": "NARF", "gene_names_refseq": "IOP2; NARF", "protein_names_uniprotkb": "Nuclear prelamin A recognition factor; IOP2; Iron-only hydrogenase-like protein 2", "protein_names_refseq": "iron-only hydrogenase-like protein 2; nuclear prelamin A recognition factor isoform c; prenyl-dependent prelamin A binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:26502)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "10514485;11237011;17326827;17525332;17654502;18680752;20970119;22645359;23186163;23481700;24715725;25418920;25576301;25892735;26024233;26154972;26375851;26992070;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29437277;29493099;29557506;29632711;29769354;29786170;30315122;30410026;31217245;31823109;31844290;32157095;32357974;32387766;32897882;32938616;33123756;33141586;33298915;33392160;33592498;33633747;33936100;33968037;34171305;34405274;34509645;35051231;35580925;36010968;36490339", "class_list": "", "function": "Data suggest that gorilla, chimpanzee, and human nuclear prelamin A recognition factor genes exemplify the versatile interplay of pre- and posttranscriptional modifications leading to novel genetic potential., [RefSeq, PubMed]; NARF is a hypoxia-induced coactivator for OCT4-mediated breast cancer stem cell specification., [RefSeq, PubMed]; Nuclear prelamin a recognition factor and iron dysregulation in multiple sclerosis., [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Prelamin A processing is linked to heterochromatin organization., [RefSeq, PubMed]; RNA editing enables exonization of a nuclear prelamin A recognition factor Alu-exon. GeneRIF: Creation of a novel Alu-exon and elimination of a premature stop codon by RNA editing., [RefSeq, PubMed]; Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [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": "A6NCJ3;B3KPX2;K4DI98;Q96AY9;Q9BWC6", "ec_number_list": [], "go_molecular_function": "GO:0005521 lamin binding", "go_cellular_component": "GO:0031981 nuclear lumen;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005652 nuclear lamina;GO:0005638 lamin filament", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9UHQ1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQ49-1", "uniprot_id": [ { "id": "NEUR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQ49", "type": "external" } ], "mass": 48252.0, "length": 428, "protein_name": "Sialidase-3", "gene_name": "NEU3", "organism": "Human", "refseq_name": "sialidase-3 isoform a", "refseq_ac": [ { "id": "NP_006647", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006647", "type": "external" } ], "gene_names_uniprotkb": "NEU3", "gene_names_refseq": "NEU3; SIAL3", "protein_names_uniprotkb": "Sialidase-3; 3.2.1.18; Ganglioside sialidasedis; Membrane sialidase; N-acetyl-alpha-neuraminidase 3; Neuraminidase 3", "protein_names_refseq": "N-acetyl-alpha-neuraminidase 3; ganglioside sialidasedis; ganglioside sialidase; membrane sialidase; sialidase 3 (membrane sialidase); sialidase-3 isoform a; sialidase-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:10825); (R-HSA-4085001); (R-HSA-9840310)", "pathway_count": 3, "publication_count": 201, "publication_id_list": "10191093;10196694;10206952;10330343;10334995;10405317;10406958;10431835;10504389;10536037;10581036;10742600;10749855;10781797;10823942;10861246;10942779;10947946;10993717;11062056;11237011;11279095;11298736;11350180;11489889;11528398;11602804;11707436;11751519;11784319;11916006;12011038;12149448;12177386;12235148;12374214;12473780;12510003;12518053;12566438;12594539;12603328;12662933;12668675;12743242;12885774;12888274;12909021;1352293;1352993;14962670;15003450;15136692;15213228;15458386;15501818;15576474;15714521;15773042;15845354;15847605;16147865;16229686;16230343;16237198;1634229;16478472;16517606;16595074;16698036;1670590;1678251;17105727;17123352;1718266;1720305;17334392;1740330;1756715;17708748;1840600;18524657;18632803;18691976;1889421;1907800;1915858;19405096;19797320;19836391;2001789;20511247;20728381;21081508;22692205;23481700;235289;239890;24714562;25418920;2562955;25922362;26154972;26251452;26375851;26728094;26811146;26929215;26992070;2717620;27846572;27920218;28063628;28126847;28218747;28228285;28646141;28832583;28834231;29242379;29393594;29443946;29557506;2960521;29632046;2965147;29692406;2970528;2971395;29747811;2976757;29802621;3014515;30315122;3048308;30833945;3136930;31495489;3158659;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32869836;32938616;32983136;33233823;33592498;33691108;33717175;34171305;34185709;34211107;3456607;34932366;35051231;35251023;35494241;35561310;35675020;35899930;36010968;37938771;38272667;39940;5135907;5164093;527942;5822067;7252518;7504405;7559389;7628016;7730378;7744740;7852280;8281145;8333853;8370580;8399327;8573994;8591035;8611500;8631981;8663398;8804427;8889578;8920913;8955159;8985184;9010752;9199191;9217013;9338580;9520418;9521684;9822625;9826427", "class_list": "glycogene;glycosylhydrolase", "function": "EPO promotes the progression of rheumatoid arthritis by inducing desialylation via increasing the expression of neuraminidase 3. Publication Status: Online-Only, [RefSeq, PubMed]; Exo-alpha-sialidase that catalyzes the hydrolytic cleavage of the terminal sialic acid (N-acetylneuraminic acid, Neu5Ac) of a glycan moiety in the catabolism of glycolipids, glycoproteins and oligosaccharides. Displays high catalytic efficiency for gangliosides including alpha-(2->3)-sialylated GD1a and GM3 and alpha-(2->8)-sialylated GD3 (PubMed:10405317, PubMed:10861246, PubMed:11298736, PubMed:12011038, PubMed:15847605, PubMed:20511247, PubMed:28646141). Plays a role in the regulation of transmembrane signaling through the modulation of ganglioside content of the lipid bilayer and by direct interaction with signaling receptors, such as EGFR (PubMed:17334392, PubMed:25922362). Desialylates EGFR and activates downstream signaling in proliferating cells (PubMed:25922362). Contributes to clathrin-mediated endocytosis by regulating sorting of endocytosed receptors to early and recycling endosomes (PubMed:26251452)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Neu3 functions as a caveolin-related signaling molecule within caveolin-rich microdomains, [RefSeq, PubMed]; Role of NEU3 Overexpression in the Prediction of Efficacy of EGFR-Targeted Therapies in Colon Cancer Cell Lines. Publication Status: Online-Only, [RefSeq, PubMed]; Role of sialidase Neu3 and ganglioside GM3 in cardiac fibroblasts activation., [RefSeq, PubMed]; Sialidase NEU3 and its pathological significance. Review article Erratum:[Glycoconj J. 2022 Aug;39(4):543. doi: 10.1007/s10719-022-10075-7. PMID: 35834088], [RefSeq, PubMed]; The extracellular sialidase NEU3 primes neutrophils. Erratum:[J Leukoc Biol. 2024 Feb 23;115(3):583. doi: 10.1093/jleuko/qiad154. PMID: 38206829], [RefSeq, PubMed]; This gene product belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. It is localized in the plasma membrane, and its activity is specific for gangliosides. It may play a role in modulating the ganglioside content of the lipid bilayer. [provided by RefSeq, Jul 2008]., [RefSeq]; Up-regulation of plasma membrane-associated ganglioside sialidase (Neu3) in human colon cancer and its involvement in apoptosis suppression, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 18, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K327;Q9NQE1", "ec_number_list": [ { "id": "3.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.18", "type": "external" } ], "go_molecular_function": "GO:0016997 alpha-sialidase activity;GO:0004308 exo-alpha-sialidase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005764 lysosome", "go_biological_process": "GO:0006689 ganglioside catabolic process;GO:0005975 carbohydrate metabolic process;GO:0045742 positive regulation of epidermal growth factor receptor signaling pathway;GO:0046479 glycosphingolipid catabolic process;GO:0009313 oligosaccharide catabolic process", "synthesized_glycan_count": 0, "hit_score": 20.2, "record_id": "Q9UQ49-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3R4-1", "uniprot_id": [ { "id": "NEUR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3R4", "type": "external" } ], "mass": 42254.0, "length": 380, "protein_name": "Sialidase-2", "gene_name": "NEU2", "organism": "Human", "refseq_name": "sialidase-2", "refseq_ac": [ { "id": "NP_005374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005374", "type": "external" } ], "gene_names_uniprotkb": "NEU2", "gene_names_refseq": "NEU2; SIAL2", "protein_names_uniprotkb": "Sialidase-2; 3.2.1.18; Cytosolic sialidase; N-acetyl-alpha-neuraminidase 2; Neuraminidase-2", "protein_names_refseq": "N-acetyl-alpha-neuraminidase 2; cytosolic sialidase; sialidase 2 (cytosolic sialidase); sialidase-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:4759); (R-HSA-4085001); (R-HSA-9840310)", "pathway_count": 3, "publication_count": 151, "publication_id_list": "10191093;10196694;10206952;10330343;10334995;10405317;10406958;10431835;10504389;10536037;10561456;10581036;10742600;10749855;10781797;10823942;10861246;10942779;10947946;10993717;11062056;11279095;11350180;11489889;11528398;11602804;11707436;11751519;11784319;11916006;12177386;12235148;12374214;12473780;12510003;12518053;12566438;12594539;12603328;12662933;12668675;12743242;12885774;12888274;12909021;1352293;1352993;14613940;14962670;15003450;15136692;15213228;15458386;15501818;15576474;15714521;15773042;15845354;16147865;16229686;16230343;16237198;1634229;16478472;16517606;16595074;16698036;1670590;1678251;17105727;17123352;1718266;1720305;1740330;17426694;1756715;1840600;18524657;18632803;1889421;1907800;1915858;19405096;19797320;19836391;2001789;20728381;21081508;22228546;22692205;235289;239890;24591206;2562955;26193330;2717620;28087363;28126847;28904123;29443946;2960521;2965147;29692406;2970528;2971395;29747811;2976757;29802621;3014515;3048308;31273092;3136930;31495489;3158659;32575925;3456607;35051231;39940;5135907;5164093;527942;5822067;7252518;7504405;7559389;7628016;7730378;7744740;7852280;8281145;8333853;8370580;8399327;8573994;8591035;8611500;8631981;8663398;8804427;8889578;8920913;8955159;8985184;9010752;9199191;9217013;9338580;9520418;9521684;9822625;9826427", "class_list": "glycogene;glycosylhydrolase", "function": "Cytosolic GBA3 is likely involved in the catabolism of cytosolic sialyl free N-glycans, possibly by stabilizing the activity of the NEU2 protein Publication Status: Online-Only, [RefSeq, PubMed]; Desialylation of Sonic-Hedgehog by Neu2 Inhibits Its Association with Patched1 Reducing Stemness-Like Properties in Pancreatic Cancer Sphere-forming Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Exo-alpha-sialidase that catalyzes the hydrolytic cleavage of the terminal sialic acid (N-acetylneuraminic acid, Neu5Ac) of a glycan moiety in the catabolism of glycolipids, glycoproteins and oligosaccharides (PubMed:14613940, PubMed:22228546). Recognizes sialyl linkage positions of the glycan moiety as well as the supramolecular organization of the sialoglycoconjugate. Displays preference for alpha-(2->3)-sialylated GD1a and GT1B gangliosides over alpha-(2->8)-sialylated GD1b, in both monomeric forms and micelles. Hydrolyzes monomeric GM1 ganglioside, but has no activity toward the miscellar form (PubMed:14613940). Has lower sialidase activity for glycoproteins such as fetuin and TF/transferrin that carry a mixture of alpha-(2->3) and alpha-(2->6)-sialyl linkages. Cleaves milk oligosaccharide alpha-(2->3)-sialyllactose, but is inactive toward alpha-(2->6)-sialyllactose isomer. Has no activity toward colominic acid, a homomer of alpha-(2->8)-linked Neu5Ac residues (PubMed:14613940)., [UniProtKB, PubMed, PubMed]; HsNEU2 differentially recognizes the type of sialosyl linkage, the aglycone part of the substrate, and the supramolecular organization (monomer/micelle/vesicle) of gangliosides, [RefSeq, PubMed]; Synchrotron radiation reflectometry was used to access the transverse structure of model membranes under the action of the human sialidase NEU2, down to the Angstrom length scale, [RefSeq, PubMed]; The role of neuraminidase 1 and 2 in glycoprotein Ibalpha-mediated integrin alphaIIbbeta3 activation., [RefSeq, PubMed]; This gene belongs to a family of glycohydrolytic enzymes which remove sialic acid residues from glycoproteins and glycolipids. Expression studies in COS7 cells confirmed that this gene encodes a functional sialidase. Its cytosolic localization was demonstrated by cell fractionation experiments. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 558, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3KNW4;Q6NTB4", "ec_number_list": [ { "id": "3.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.18", "type": "external" } ], "go_molecular_function": "GO:0004308 exo-alpha-sialidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0005764 lysosome;GO:1902494 catalytic complex", "go_biological_process": "GO:0006689 ganglioside catabolic process;GO:0046479 glycosphingolipid catabolic process;GO:0009313 oligosaccharide catabolic process;GO:0006516 glycoprotein catabolic process", "synthesized_glycan_count": 0, "hit_score": 15.2, "record_id": "Q9Y3R4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D2G3-1", "uniprot_id": [ { "id": "O2A25_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D2G3", "type": "external" } ], "mass": 34606.0, "length": 310, "protein_name": "Olfactory receptor 2A25", "gene_name": "OR2A25", "organism": "Human", "refseq_name": "olfactory receptor 2A25", "refseq_ac": [ { "id": "NP_001004488", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004488", "type": "external" } ], "gene_names_uniprotkb": "OR2A25; OR2A25P; OR2A27", "gene_names_refseq": "OR2A24P; OR2A25P; OR2A25; OR2A27", "protein_names_uniprotkb": "Olfactory receptor 2A25; Olfactory receptor 2A27", "protein_names_refseq": "olfactory receptor 2A25; olfactory receptor 2A27; olfactory receptor, family 2, subfamily A, member 24 pseudogene; olfactory receptor, family 2, subfamily A, member 25 pseudogene; olfactory receptor, family 2, subfamily A, member 27", "tax_id": 9606, "disease": "", "pathway": " (hsa:392138); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 27, "publication_id_list": "10460249;15598656;17601748;17873857;17973576;17975119;19023099;19474308;19581598;24316890;24715725;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28411811;28656349;29235485;29557506;30429286;31040214;31974307;32066986;35051231", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Odorant receptor., [UniProtKB, UniProtKB, UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": "B2RNC9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "A4D2G3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBM1-1", "uniprot_id": [ { "id": "SPC25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBM1", "type": "external" } ], "mass": 26153.0, "length": 224, "protein_name": "Kinetochore protein Spc25", "gene_name": "SPC25", "organism": "Human", "refseq_name": "kinetochore protein Spc25", "refseq_ac": [ { "id": "NP_065726", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065726", "type": "external" } ], "gene_names_uniprotkb": "SPC25; AD024; SPBC25", "gene_names_refseq": "AD024; SPBC25; SPC25; hSpc25", "protein_names_uniprotkb": "Kinetochore protein Spc25; hSpc25", "protein_names_refseq": "2600017H08Rik; SPC25, NDC80 kinetochore complex component, homolog; kinetochore protein Spc25; spindle pole body component 25 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:57405); (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": 163, "publication_id_list": "10411507;10600384;10678165;10958683;11081627;11181178;11237011;11371342;11509732;11535616;11804586;12006501;12194817;12429848;12577064;12679384;12732141;12805219;12852857;14699129;14730319;14738735;15006353;15085137;15339662;15507212;15723797;15737063;15864301;15866170;15944396;15961401;16292343;16439214;16541025;16622419;16622420;16682347;16890222;16943183;17030981;17112726;17113138;17129783;17196341;17198702;1737036;18001770;18097444;18716626;18923426;19350017;19696148;19815554;19965387;20030946;20068231;20101212;20591975;21111234;21148482;21397845;21576392;21868368;21878504;21987589;22094460;22275430;22424782;22608513;22790947;22885700;22898188;23085020;23186163;23222643;23481700;23801653;24397554;24715725;24914801;25576301;25740311;25789526;25892735;26154972;26375851;26768311;26811146;26992070;27600516;27846572;27893789;27920218;28063628;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29769354;29789417;30315122;30379171;30410026;30524438;30779550;30833945;31154438;31409757;31530632;31844290;31848261;31937595;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34260926;34509645;34932366;35051231;35154160;35251023;35318648;35580925;36010968;36147467;36241641;36284347;37217939;38217547;38420826;38894536;39894887;9649308;9649503;9892021", "class_list": "", "function": "Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity (PubMed:14699129, PubMed:14738735). Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore (PubMed:14699129, PubMed:14738735). The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules (PubMed:23085020)., [UniProtKB, PubMed, PubMed, PubMed]; HSPC25 is an essential kinetochore component that plays a significant role in proper execution of mitotic events, [RefSeq, PubMed]; PLEK2 activates the PI3K/AKT signaling pathway to drive lung adenocarcinoma progression by upregulating SPC25., [RefSeq, PubMed]; SPC25 Functions as a Prognostic-Related Biomarker, and Its High Expression Correlates with Tumor Immune Infiltration and UCEC Progression., [RefSeq, PubMed]; SPC25 as a novel therapeutic and prognostic biomarker and its association with glycolysis, ferroptosis and ceRNA in lung adenocarcinoma., [RefSeq, PubMed]; SPC25 promotes proliferation and stemness of hepatocellular carcinoma cells via the DNA-PK/AKT/Notch1 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The Spc24, Spc25, Nuf2, and Ndc80/Hec1 complex is a faithful copy of the endogenous Ndc80 complex, [RefSeq, PubMed]; This gene encodes a protein that may be involved in kinetochore-microtubule interaction and spindle checkpoint activity. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K4X8;D3DPC0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031262 Ndc80 complex;GO:0005634 nucleus;GO:0005829 cytosol;GO:0000776 kinetochore;GO:0000940 outer kinetochore", "go_biological_process": "GO:0007059 chromosome segregation;GO:0008608 attachment of spindle microtubules to kinetochore;GO:0051301 cell division;GO:0007094 mitotic spindle assembly checkpoint signaling;GO:0007052 mitotic spindle organization", "synthesized_glycan_count": 0, "hit_score": 16.6, "record_id": "Q9HBM1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P16035-1", "uniprot_id": [ { "id": "TIMP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P16035", "type": "external" } ], "mass": 24399.0, "length": 220, "protein_name": "Metalloproteinase inhibitor 2", "gene_name": "TIMP2", "organism": "Human", "refseq_name": "metalloproteinase inhibitor 2 precursor", "refseq_ac": [ { "id": "NP_003246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003246", "type": "external" } ], "gene_names_uniprotkb": "TIMP2", "gene_names_refseq": "CSC-21K; DDC8; TIMP2", "protein_names_uniprotkb": "Metalloproteinase inhibitor 2; CSC-21K; TIMP-2; Tissue inhibitor of metalloproteinases 2", "protein_names_refseq": "metalloproteinase inhibitor 2 precursor; metalloproteinase inhibitor 2; testicular secretory protein Li 57; tissue inhibitor of metalloproteinases 2", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); ductal carcinoma in situ (Disease Ontology:DOID:0060074); prostate cancer (Disease Ontology:DOID:10283); Alzheimer's disease (Disease Ontology:DOID:10652); portal hypertension (Disease Ontology:DOID:10762); intracranial aneurysm (Disease Ontology:DOID:10941); urinary bladder cancer (Disease Ontology:DOID:11054); Duchenne muscular dystrophy (Disease Ontology:DOID:11723); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); Huntington's disease (Disease Ontology:DOID:12858); Moyamoya disease (Disease Ontology:DOID:13099); thoracic aortic aneurysm (Disease Ontology:DOID:14004); Marfan syndrome (Disease Ontology:DOID:14323); preretinal fibrosis (Disease Ontology:DOID:2006); transitional cell carcinoma (Disease Ontology:DOID:2671); endometrial carcinoma (Disease Ontology:DOID:2871); cervical squamous cell carcinoma (Disease Ontology:DOID:3744); renal cell carcinoma (Disease Ontology:DOID:4450); congestive heart failure (Disease Ontology:DOID:6000); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:7077); (R-HSA-1592389); (R-HSA-6798695); (R-HSA-9839383)", "pathway_count": 4, "publication_count": 86, "publication_id_list": "11237011;11710594;11830519;12032297;12542794;1311314;1371271;1390635;1480033;1480041;1655733;1730286;1783204;21081667;2157214;2159879;2169257;2176865;2269296;23650620;2380196;2383557;24073280;2546891;2551898;2554304;2557753;27600516;27862975;2793861;29242379;29331515;29557506;29632711;29786170;30227959;30429286;3058116;31154438;31844290;31848261;32157095;32162841;32983136;33043033;33592498;33936100;33968037;35051231;35580925;36284347;37914840;38015626;38478803;38798256;38914806;4216367;6263256;7669817;7746327;7780967;7826345;7890645;7896811;7918391;7981201;8015608;8112602;8194591;8314771;8315383;8530478;8576151;8621565;8645182;8663255;8692836;8804434;8810321;9261109;9346290;9422744;9578462;9632662;9705310;9837731", "class_list": "glycogene", "function": "Association of TIMP2 418 G/C and MMP Gene Polymorphism with Risk of Urinary Cancers: Systematic Review and Meta-analysis., [RefSeq, PubMed]; Circular RNA circLIFR suppresses papillary thyroid cancer progression by modulating the miR-429/TIMP2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-8, MMP-9, MMP-10, MMP-13, MMP-14, MMP-15, MMP-16 and MMP-19., [UniProtKB, PubMed, PubMed, PubMed]; Demethylation of TIMP2 and TIMP3 Inhibits Cell Proliferation, Migration, and Invasion in Pituitary Adenomas., [RefSeq, PubMed]; Neuronal TIMP2 regulates hippocampus-dependent plasticity and extracellular matrix complexity., [RefSeq, PubMed]; TIMP2 ameliorates blood-brain barrier disruption in traumatic brain injury by inhibiting Src-dependent VE-cadherin internalization. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 219, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 20, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q16121;Q93006;Q9UDF7", "ec_number_list": [], "go_molecular_function": "GO:0002020 protease binding;GO:0008270 zinc ion binding;GO:0030414 peptidase inhibitor activity;GO:0008191 metalloendopeptidase inhibitor activity;GO:0140678 molecular function inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:1904813 ficolin-1-rich granule lumen;GO:0035580 specific granule lumen", "go_biological_process": "GO:0051045 negative regulation of membrane protein ectodomain proteolysis;GO:1905049 negative regulation of metallopeptidase activity;GO:0034097 response to cytokine;GO:0009725 response to hormone", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "P16035-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15543-1", "uniprot_id": [ { "id": "TAF13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15543", "type": "external" } ], "mass": 14287.0, "length": 124, "protein_name": "Transcription initiation factor TFIID subunit 13", "gene_name": "TAF13", "organism": "Human", "refseq_name": "transcription initiation factor TFIID subunit 13", "refseq_ac": [ { "id": "NP_005636", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005636", "type": "external" } ], "gene_names_uniprotkb": "TAF13; TAF2K; TAFII18", "gene_names_refseq": "MRT60; TAF(II)18; TAF13; TAF2K; TAFII-18; TAFII18", "protein_names_uniprotkb": "Transcription initiation factor TFIID subunit 13; TAF(II)18; TAFII-18; TAFII18; Transcription initiation factor TFIID 18 kDa subunit", "protein_names_refseq": "TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa; TATA box binding protein (TBP)-associated factor, RNA polymerase II, K, 18kD; transcription initiation factor TFIID 18 kD subunit; transcription initiation factor TFIID 18 kDa subunit; transcription initiation factor TFIID subunit 13", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 60 (Disease Ontology:DOID:0081222)", "pathway": " (hsa:6884); (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": 131, "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;17591690;18079403;1829677;18490454;19121998;1939271;19667075;19965871;20457598;20959462;2125285;21317932;22137580;22231121;22252320;22441827;23000554;23166507;23485397;23676219;23932780;24097444;24145406;24270878;2449431;24874608;24997600;25418920;25675981;26154972;26811146;26992070;28257693;28832583;29111974;29242379;2944599;29493099;29632046;30784271;30833945;31844290;32157095;32265295;32387766;32488085;33141586;33795473;34405274;34509645;34561969;37938771;7151173;7601352;7660122;7660129;7660130;7715707;7729427;8156590;8253082;8330735;8339931;8370526;8465201;8490964;8628262;8668525;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 associated with a subset of TFIID complexes. This subunit interacts with TBP and with two other small subunits of TFIID, TAF10 and TAF11. There is a pseudogene located on chromosome 6. [provided by RefSeq, Jul 2008]., [RefSeq]; The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473, PubMed:9695952). TFIID recognizes and binds promoters 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). TAF13, together with TAF11 and TBP, play key roles during promoter binding by the TFIID and TFIIA transcription factor complexes (PubMed:33795473)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Two homozygous missense are associated with autosomal-recessive intellectual disability and microcephaly, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R5E5;Q5TYV6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046982 protein heterodimerization activity;GO:0017025 TBP-class protein binding;GO:0016251 RNA polymerase II general transcription initiation factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;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:0006352 DNA-templated transcription initiation", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q15543-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSH4-1", "uniprot_id": [ { "id": "TACO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSH4", "type": "external" } ], "mass": 32477.0, "length": 297, "protein_name": "Translational activator of cytochrome c oxidase 1", "gene_name": "TACO1", "organism": "Human", "refseq_name": "translational activator of cytochrome c oxidase 1", "refseq_ac": [ { "id": "NP_057444", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057444", "type": "external" } ], "gene_names_uniprotkb": "TACO1; CCDC44; PRO0477", "gene_names_refseq": "CCDC44; MC4DN8; TACO1", "protein_names_uniprotkb": "Translational activator of cytochrome c oxidase 1; Coiled-coil domain-containing protein 44; Translational activator of mitochondrially-encoded cytochrome c oxidase I", "protein_names_refseq": "clone HQ0477 PRO0477p; coiled-coil domain-containing protein 44; translational activator of COX I; translational activator of cytochrome c oxidase 1; translational activator of mitochondrially encoded cytochrome c oxidase I", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 8 (Disease Ontology:DOID:0070495)", "pathway": " (hsa:51204); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "11237011;19503089;20727754;20877624;22342701;23125284;23260140;23301498;23345593;23746447;24403053;25926683;25959673;26321642;26992070;27693358;28082314;28199844;28330871;28510447;29154948;30379171;31536960;31844290;32157095;32317297;32375044;32897882;32938616;33141586;34171305;34357683;34969438;35750769;39036954;40596516;9843204", "class_list": "", "function": "Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Report on clinical findings of patients with TACO1 gene mutation leading to cytochrome c oxidase deficiency., [RefSeq, PubMed]; Study identified a specific defect in the synthesis of the mitochondrial DNA-encoded COX I subunit in a pedigree segregating late-onset Leigh syndrome and cytochrome c oxidase (COX) deficiency, [RefSeq, PubMed]; The human mitochondrial translation factor TACO1 alleviates mitoribosome stalling at polyproline stretches., [RefSeq, PubMed]; This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RD21;Q8N3N6;Q9UI60", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0019843 rRNA binding;GO:0097177 mitochondrial ribosome binding", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0070131 positive regulation of mitochondrial translation;GO:0006417 regulation of translation", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q9BSH4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2D9-1", "uniprot_id": [ { "id": "ZN652_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2D9", "type": "external" } ], "mass": 69744.0, "length": 606, "protein_name": "Zinc finger protein 652", "gene_name": "ZNF652", "organism": "Human", "refseq_name": "zinc finger protein 652", "refseq_ac": [ { "id": "NP_001138837", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138837", "type": "external" } ], "gene_names_uniprotkb": "ZNF652; KIAA0924", "gene_names_refseq": "ZNF652", "protein_names_uniprotkb": "Zinc finger protein 652", "protein_names_refseq": "zinc finger protein 652", "tax_id": 9606, "disease": "", "pathway": " (hsa:22834)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;16966434;18220336;18452278;18456661;18669648;19430483;19664994;19690332;20068231;20204290;21678463;23186163;23481700;25335771;25576301;28834231;29632711;31848261;32502341;32938616;32983136;33717175;33981976;34424826;34926705;35051231;36010968;37340703;38253038;38665916;40608935", "class_list": "", "function": "CBFA2T3 interacts with ZNF652 to repress HEB expression, and in addition CBFA2T3 interacts with the HEB protein to inhibit its activator function., [RefSeq, PubMed]; Circular RNA circVRK1 suppresses the proliferation, migration and invasion of osteosarcoma cells by regulating zinc finger protein ZNF652 expression via microRNA miR-337-3p., [RefSeq, PubMed]; DNA-binding transcription repressor that acts together with CBFA2T2 to repress expression of target genes, such as TCF12 (PubMed:16966434, PubMed:18456661, PubMed:21678463). Specifically binds the DNA consensus sequence 5'-CGAAAGGGTTAAT-3' (PubMed:18456661, PubMed:21678463)., [UniProtKB, PubMed, PubMed, PubMed]; Genetic association studies identify a novel variant in ZNF652 gene suggesting its role in prostate cancer., [RefSeq, PubMed]; High levels of expression of both the androgen receptor and ZNF652 in clinically organ-defined prostate cancer are associated with a statistically increased risk of relapse, [RefSeq, PubMed]; Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; ZNF652-Induced circRHOT1 Promotes SMAD5 Expression to Modulate Tumorigenic Properties and Nature Killer Cell-Mediated Toxicity in Bladder Cancer via Targeting miR-3666. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "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": "A4QPD9;Q5H9Q0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion 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_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9Y2D9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRQ6-1", "uniprot_id": [ { "id": "MIC25_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRQ6", "type": "external" } ], "mass": 26458.0, "length": 235, "protein_name": "MICOS complex subunit MIC25", "gene_name": "CHCHD6", "organism": "Human", "refseq_name": "MICOS complex subunit MIC25 isoform 1", "refseq_ac": [ { "id": "NP_001307539", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307539", "type": "external" } ], "gene_names_uniprotkb": "CHCHD6; CHCM1; MIC25", "gene_names_refseq": "CHCHD6; CHCM1; MICOS25; Mic25; PPP1R23", "protein_names_uniprotkb": "MICOS complex subunit MIC25; Coiled-coil-helix cristae morphology protein 1; Coiled-coil-helix-coiled-coil-helix domain-containing protein 6", "protein_names_refseq": "MICOS complex subunit MIC25 isoform 1; MICOS complex subunit MIC25; coiled coil helix cristae morphology 1; coiled-coil-helix cristae morphology protein 1; coiled-coil-helix-coiled-coil-helix domain-containing protein 6, mitochondrial; mitochondrial contact site and cristae organizing system subunit 25; protein phosphatase 1, regulatory subunit 23", "tax_id": 9606, "disease": "hypoplastic left heart syndrome (Disease Ontology:DOID:9955)", "pathway": " (hsa:84303); (R-HSA-8949613)", "pathway_count": 2, "publication_count": 87, "publication_id_list": "11237011;17121862;17510655;17624330;18323778;18669648;19240061;20068231;20166139;20833715;21836051;22114354;22228767;22252321;22864911;23481700;24098383;24275569;24687277;24715725;25285856;25576301;25645385;25764979;25781180;25997101;26154972;26375851;26416881;26477565;26530328;26968360;26992070;27479602;27485409;27600516;27623147;28228285;28510447;28514659;28832583;28834231;29242379;29485866;29557506;29786170;30315122;30429286;30524438;30779550;31154438;31844290;31848261;31937595;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32726614;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;34405274;34509645;35051231;35561310;36010968;36104602;36215666;36241641;36284347;37938771", "class_list": "", "function": "A CHCHD6-APP axis connects amyloid and mitochondrial pathology in Alzheimer's disease., [RefSeq, PubMed]; Anti-mitofilin mAb immunocaptures its target protein in association with six other proteins, metaxins 1 and 2, SAM50, CHCHD3, CHCHD6 and DnaJC11, respectively, [RefSeq, PubMed]; CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology., [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., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D6R9U0;D6RIB4;H8Y0Y7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001401 SAM complex;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0044284 mitochondrial crista junction;GO:0061617 MICOS complex", "go_biological_process": "GO:0006974 DNA damage response;GO:0042407 cristae formation;GO:0007007 inner mitochondrial membrane organization", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q9BRQ6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99959-1", "uniprot_id": [ { "id": "PKP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99959", "type": "external" } ], "mass": 97415.0, "length": 881, "protein_name": "Plakophilin-2", "gene_name": "PKP2", "organism": "Human", "refseq_name": "plakophilin-2 isoform 2a", "refseq_ac": [ { "id": "NP_001005242", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005242", "type": "external" } ], "gene_names_uniprotkb": "PKP2", "gene_names_refseq": "ARVD9; PKP2", "protein_names_uniprotkb": "Plakophilin-2", "protein_names_refseq": "plakophilin-2 isoform 2a", "tax_id": 9606, "disease": "arrhythmogenic right ventricular cardiomyopathy (Disease Ontology:DOID:0050431); autism spectrum disorder (Disease Ontology:DOID:0060041); arrhythmogenic right ventricular dysplasia 9 (Disease Ontology:DOID:0110077)", "pathway": " (hsa:5318); (R-HSA-6805567); (R-HSA-6809371)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10.1101/2023.09.13.557529;10066784;10196183;10231017;10374264;10411887;10588656;10771479;10852826;11237011;11350120;11380615;11416169;11590230;11790773;12902340;12941695;15033990;15337775;15373777;15489853;15797384;15803139;16061697;16382671;16639001;1691188;1694855;1714783;17515931;17521629;17525332;17535849;17547437;17562024;17596512;18452278;18662195;18669648;18691976;18843291;19190773;19194479;19369195;19413330;19415658;19533476;19651622;19664994;19664995;19691289;19863551;19901323;19955750;20031617;20068231;20166139;20179351;20613778;20657595;20667819;20859650;20940292;21062920;21378009;21406692;21439340;21654840;21997417;22424782;22781308;23186163;23481192;23629652;23884246;24129315;2414304;24275569;25208567;25208914;25926655;26390218;26992070;27846572;28169297;28228285;28832583;28834231;29242379;29557506;29789417;30379171;30391969;30429286;30678776;31844290;31845994;32157095;32488085;32938616;33298915;33968037;33981976;34019948;34171305;34191271;34368962;35051231;35254053;35318648;35580925;35959657;36241641;36284347;37510372;37607954;37726168;38050058;40596516;7543090;8824274;8922383;8999895;9395522;9468612;9565599;9721216", "class_list": "", "function": "A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:25208567). Regulates focal adhesion turnover resulting in changes in focal adhesion size, cell adhesion and cell spreading, potentially via transcriptional modulation of beta-integrins (PubMed:23884246). Required to maintain gingival epithelial barrier function (PubMed:34368962). Important component of the desmosome that is also required for localization of desmosome component proteins such as DSC2, DSG2 and JUP to the desmosome cell-cell junction (PubMed:22781308, PubMed:25208567). Required for the formation of desmosome cell junctions in cardiomyocytes, thereby required for the correct formation of the heart, specifically trabeculation and formation of the atria walls (By similarity). Loss of desmosome cell junctions leads to mis-localization of DSP and DSG2 resulting in disruption of cell-cell adhesion and disordered intermediate filaments (By similarity). Modulates profibrotic gene expression in cardiomyocytes via regulation of DSP expression and subsequent activation of downstream TGFB1 and MAPK14/p38 MAPK signaling (By similarity). Required for cardiac sodium current propagation and electrical synchrony in cardiac myocytes, via ANK3 stabilization and modulation of SCN5A/Nav1.5 localization to cell-cell junctions (By similarity). Required for mitochondrial function, nuclear envelope integrity and positive regulation of SIRT3 transcription via maintaining DES localization at its nuclear envelope and cell tip anchoring points, and thereby preserving regulation of the transcriptional program (PubMed:35959657). Maintenance of nuclear envelope integrity protects against DNA damage and transcriptional dysregulation of genes, especially those involved in the electron transport chain, thereby preserving mitochondrial function and protecting against superoxide radical anion generation (PubMed:35959657). Binds single-stranded DNA (ssDNA) (PubMed:20613778). May regulate the localization of GJA1 to gap junctions in intercalated disks of the heart (PubMed:18662195). Involved in the inhibition of viral infection by influenza A viruses (IAV) (PubMed:28169297). Acts as a host restriction factor for IAV viral propagation, potentially via disrupting the interaction of IAV polymerase complex proteins (PubMed:28169297)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulated expression of plakophilin-2 gene in patients with colon adenocarcinoma predicts an unfavorable prognosis and immune infiltrate., [RefSeq, PubMed]; Impaired Plakophilin-2 in obesity breaks cell cycle dynamics to breed adipocyte senescence. Publication Status: Online-Only, [RefSeq, PubMed]; The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This gene may regulate the signaling activity of beta-catenin and is required to maintain transcription of genes that control intracellular calcium cycling including ryanodine receptor 2, ankyrin-B, triadin, and calcium channel, voltage-dependent, L type, alpha 1C. Mutations in this gene are associated with different inherited cardiac conditions including Arrythmogenic Cardiomyopathy, Brugada Syndrome, and Idiopathic Ventricular Fibrillation. A processed pseudogene with high similarity to this gene has been mapped to chromosome 12p13. [provided by RefSeq, May 2022]., [RefSeq]; This paper incorrectly maps the locus to 12p13. A later paper by the primary authors corrects the map location to 12p11 (PMID:10828611)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 24, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0AV37;B8QFA1;B8QGS6;B8QGS7;D3DUW9;Q4VC01;Q99960", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003677 DNA binding;GO:0017080 sodium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0005080 protein kinase C binding", "go_cellular_component": "GO:0051286 cell tip;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:1900024 regulation of substrate adhesion-dependent cell spreading;GO:0045110 intermediate filament bundle assembly;GO:0048496 maintenance of animal organ identity;GO:0007267 cell-cell signaling;GO:0007507 heart development", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q99959-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15403-1", "uniprot_id": [ { "id": "MOT7_HUMAN", "url": "https://www.uniprot.org/uniprot/O15403", "type": "external" } ], "mass": 57393.0, "length": 523, "protein_name": "Monocarboxylate transporter 7", "gene_name": "SLC16A6", "organism": "Human", "refseq_name": "monocarboxylate transporter 7", "refseq_ac": [ { "id": "NP_001167637", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167637", "type": "external" } ], "gene_names_uniprotkb": "SLC16A6; MCT6; MCT7", "gene_names_refseq": "MCT6; MCT7; SLC16A6", "protein_names_uniprotkb": "Monocarboxylate transporter 7; MCT 6; MCT 7; Monocarboxylate transporter 6; Solute carrier family 16 member 6", "protein_names_refseq": "breast cancer protein BCY5; monocarboxylate transporter 6; monocarboxylate transporter 7; solute carrier family 16, member 6 (monocarboxylic acid transporter 7)", "tax_id": 9606, "disease": "", "pathway": " (hsa:9120)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;16174808;17081983;18669648;18691976;24714562;25645385;25892735;27600516;28467828;29242379;29314611;29393594;29557506;29769354;30484775;30779550;32157095;32161166;32232919;32350084;32488085;32938616;33392160;33717175;34087483;34357683;35154160;35257743;35318648;36215666;9425115", "class_list": "", "function": "Genetic variants in PDSS1 and SLC16A6 of the ketone body metabolic pathway predict cutaneous melanoma-specific survival., [RefSeq, PubMed]; MCT6 is involved in the disposition of various drugs, including bumetanide., [RefSeq, PubMed]; Mammalian monocarboxylate transporter 7 (MCT7/Slc16a6) is a novel facilitative taurine transporter., [RefSeq, PubMed]; Monocarboxylate transporter selective for taurine. May associate with BSG/CD147 or EMB/GP70 ancillary proteins to mediate facilitative efflux or influx of taurine across the plasma membrane. The transport is pH- and sodium-independent. Rather low-affinity, is likely effective for taurine transport in tissues where taurine is present at high concentrations., [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": 7, "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": "Q6P1X3", "ec_number_list": [], "go_molecular_function": "GO:0005368 taurine transmembrane transporter activity;GO:0008028 monocarboxylic acid transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane", "go_biological_process": "GO:0015718 monocarboxylic acid transport", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "O15403-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRT3-1", "uniprot_id": [ { "id": "MIEN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRT3", "type": "external" } ], "mass": 12403.0, "length": 115, "protein_name": "Migration and invasion enhancer 1", "gene_name": "MIEN1", "organism": "Human", "refseq_name": "migration and invasion enhancer 1 isoform 1", "refseq_ac": [ { "id": "NP_115715", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115715", "type": "external" } ], "gene_names_uniprotkb": "MIEN1; C17orf37; RDX12; XTP4", "gene_names_refseq": "C17orf37; C35; MIEN1; ORB3; RDX12; XTP4", "protein_names_uniprotkb": "Migration and invasion enhancer 1; HBV X-transactivated gene 4 protein; HBV XAg-transactivated protein 4; Protein C35", "protein_names_refseq": "HBV X-transactivated gene 4 protein; HBV XAg-transactivated protein 4; migration and invasion enhancer 1 isoform 1; protein C17orf37", "tax_id": 9606, "disease": "", "pathway": " (hsa:84299)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;12739007;15010812;17117180;17121940;19503095;21628459;23284973;25576301;27846572;27920218;28228285;29242379;30315122;31154438;31530632;31844290;32157095;32305633;33298915;33349155;33592498;33912179;35580925;38272230", "class_list": "", "function": "Data identified that the promotion of gastric cancer (GC) growth and metastasis induced by circRNA_100876 interacted with miR-136 and MIEN1, indicating an emerging announcement for uncovering the potential mechanism of GC progression, [RefSeq, PubMed]; Increases cell migration by inducing filopodia formation at the leading edge of migrating cells. Plays a role in regulation of apoptosis, possibly through control of CASP3. May be involved in a redox-related process., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; MGC14832 gene is located within human chromosome 17q12 amplicon, including PPP1R1B, STARD3, TCAP, PNMT, ERBB2, MGC14832 and GRB7 genes. PPP1R1B ~ ERBB2 ~ GRB7 locus is amplified in human gastric cancer and breast cancer., [RefSeq, PubMed]; MiR-124-5p Inhibits the Progression of Gastric Cancer by Targeting MIEN1., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Oncogenomic recombination hotspot around the PPP1R1B-STARD3-TCAP-PNMT-PERLD1-ERBB2-C17orf37-GRB7 amplicon at human chromosome 17q12 is closely linked to evolutionary recombination hotspot around the GSDML-GSDM locus., [RefSeq, PubMed]; Short peptides based on the conserved regions of MIEN1 protein exhibit anticancer activity by targeting the MIEN1 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": 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_cellular_component": "GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:0051491 positive regulation of filopodium assembly", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q9BRT3-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TI25-1", "uniprot_id": [ { "id": "NBPFE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TI25", "type": "external" } ], "mass": 343239.0, "length": 2988, "protein_name": "NBPF family member NBPF14", "gene_name": "NBPF14", "organism": "Human", "refseq_name": "NBPF family member NBPF14 isoform 2", "refseq_ac": [ { "id": "NP_001382560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001382560", "type": "external" } ], "gene_names_uniprotkb": "NBPF14", "gene_names_refseq": "AE5; DJ328E19.C1.1; NBPF14; NBPF", "protein_names_uniprotkb": "NBPF family member NBPF14; Neuroblastoma breakpoint family member 14", "protein_names_refseq": "NBPF family member NBPF14 isoform 2; NBPF family member NBPF14; neuroblastoma breakpoint family member 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:25832)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;16079250", "class_list": "", "function": "This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, May 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "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": "A0A087WVU4;Q5TI23;Q8IX76;Q9UJI9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5TI25-1", "record_type": "protein", "filter_code": "0000000.1000101.001000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P40879-1", "uniprot_id": [ { "id": "S26A3_HUMAN", "url": "https://www.uniprot.org/uniprot/P40879", "type": "external" } ], "mass": 84505.0, "length": 764, "protein_name": "Chloride anion exchanger", "gene_name": "SLC26A3", "organism": "Human", "refseq_name": "chloride anion exchanger", "refseq_ac": [ { "id": "NP_000102", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000102", "type": "external" } ], "gene_names_uniprotkb": "SLC26A3; DRA", "gene_names_refseq": "CLD; DRA; SLC26A3", "protein_names_uniprotkb": "Chloride anion exchanger; Down-regulated in adenoma; Protein DRA; Solute carrier family 26 member 3", "protein_names_refseq": "chloride anion exchanger; down-regulated in adenoma protein; solute carrier family 26 (anion exchanger), member 3", "tax_id": 9606, "disease": "congenital secretory chloride diarrhea 1 (Disease Ontology:DOID:0060296); congenital diarrhea (Disease Ontology:DOID:0060774); diarrhea (Disease Ontology:DOID:13250)", "pathway": " (hsa:1811); (R-HSA-427601); (R-HSA-5619085)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "11237011;11247665;11524734;11829495;11834742;12442266;12626430;15155570;15591059;15766278;16606687;16914891;17525332;17673510;18216024;19321737;19861545;21150650;21394828;22159084;22627094;22779076;23274434;23481700;24051746;25892735;27862975;28644346;29557506;29789417;30429286;31154438;31325522;31848261;32161166;32983136;33514305;33968037;34087483;34185709;35051231;35580925;36084219;36284347;37154494;38704545;7683425;8140616;8896562;9554749;9718329", "class_list": "glycogene", "function": "Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation. Publication Status: Online-Only, [RefSeq, PubMed]; Mediates chloride-bicarbonate exchange with a chloride bicarbonate stoichiometry of 2:1 in the intestinal epithelia (PubMed:16606687, PubMed:19321737, PubMed:22159084, PubMed:22627094). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; SLC26A3 (DRA) is stimulated in a synergistic, intracellular Ca[2+]-dependent manner by cAMP and ATP in intestinal epithelial cells., [RefSeq, PubMed]; Segmental differences in Slc26a3-dependent Cl(-) absorption and HCO3(-) secretion in the mouse large intestine in vitro in Ussing chambers. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells. The protein is essential for intestinal chloride absorption, and mutations in this gene have been associated with congenital chloride diarrhea. [provided by RefSeq, Oct 2008]., [RefSeq]; The rs12532734 Polymorphism Near the Solute Carrier 26A3 Gene Locus Is Associated With Gallstone Disease in Children., [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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1090, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005452 solute:inorganic anion antiporter activity;GO:0015106 bicarbonate transmembrane transporter activity;GO:0015108 chloride transmembrane transporter activity;GO:0019531 oxalate transmembrane transporter activity;GO:0008271 secondary active sulfate transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031526 brush border membrane;GO:0097225 sperm midpiece", "go_biological_process": "GO:0055085 transmembrane transport;GO:0071320 cellular response to cAMP;GO:0048240 sperm capacitation;GO:1902476 chloride transmembrane transport;GO:0060081 membrane hyperpolarization", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "P40879-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000100000001.110.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T8P6-1", "uniprot_id": [ { "id": "RBM26_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T8P6", "type": "external" } ], "mass": 113597.0, "length": 1007, "protein_name": "RNA-binding protein 26", "gene_name": "RBM26", "organism": "Human", "refseq_name": "RNA-binding protein 26 isoform 1", "refseq_ac": [ { "id": "NP_001273560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273560", "type": "external" } ], "gene_names_uniprotkb": "RBM26; C13orf10; PRO1777", "gene_names_refseq": "ARRS2; C13orf10; PPP1R132; PRO1777; RBM26; SE70-2; ZC3H17", "protein_names_uniprotkb": "RNA-binding protein 26; CTCL tumor antigen se70-2; RNA-binding motif protein 26", "protein_names_refseq": "CTCL tumor antigen se70-2; RNA-binding protein 26 isoform 1; RNA-binding protein 26; acidic rich RS domain containing 2; cutaneous T-cell lymphoma tumor antigen se70-2; protein phosphatase 1, regulatory 132", "tax_id": 9606, "disease": "", "pathway": " (hsa:64062); (R-HSA-9930044)", "pathway_count": 2, "publication_count": 111, "publication_id_list": "10.1101/2023.09.13.557529;11149944;11237011;16964243;17081983;17174896;17412707;18220336;18669648;19608861;20068231;20305658;21158410;21406692;21705430;21740066;21855801;22706990;23186163;23301498;23481700;24275569;24714562;24715725;25114211;25418920;25505266;25576301;25578728;25645385;26154972;26375851;26728094;26811146;26929215;26992070;27434818;27600516;27655845;27846572;27871484;27920218;28063628;28218747;28228285;28510447;28514659;28657654;28832583;28834231;28904123;29237092;29242379;29298432;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29906447;30059200;30315122;30397120;30429286;30620550;31217245;31492838;31844290;31950173;32119511;32157095;32357974;32387766;32502341;32870666;32938616;32983136;33214551;33298915;33465208;33592498;33691108;33717175;33767452;33912179;33913806;33936100;33968037;33981976;34019948;34087483;34725712;34846842;35051231;35138101;35254053;35289036;35561310;35580925;36010968;36284347;37541260;37875486;38665916;39531497;40596516;40914422", "class_list": "", "function": "May be involved in the turnover of nuclear polyadenylated (pA+) RNA., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Three additional proteins required for Poly(A) Tail eXosome Targeting (PAXT) function: ZC3H3, RBM26 and RBM27 along with the known PAXT-associated protein, PABPN1, were identified., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "B4DZE0;Q2NKM2;Q2NKQ2;Q5CZH8;Q5T8P5;Q5T8P8;Q5U5P5;Q5W0G7;Q8N3H5;Q96K92;Q96SZ3;Q9H2F8;Q9H7F9;Q9P1G7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006401 RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "Q5T8P6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P45379-1", "uniprot_id": [ { "id": "TNNT2_HUMAN", "url": "https://www.uniprot.org/uniprot/P45379", "type": "external" } ], "mass": 35924.0, "length": 298, "protein_name": "Troponin T, cardiac muscle", "gene_name": "TNNT2", "organism": "Human", "refseq_name": "troponin T, cardiac muscle isoform 4", "refseq_ac": [ { "id": "NP_001001432", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001432", "type": "external" } ], "gene_names_uniprotkb": "TNNT2", "gene_names_refseq": "CMD1D; CMH2; CMPD2; LVNC6; RCM3; TNNT2; TnTC; cTnT", "protein_names_uniprotkb": "Troponin T, cardiac muscle; Cardiac muscle troponin T; TnTc; cTnT", "protein_names_refseq": "cardiomyopathy, dilated 1D (autosomal dominant); cardiomyopathy, hypertrophic 2; troponin T type 2 (cardiac); troponin T, cardiac muscle isoform 4; troponin T, cardiac muscle", "tax_id": 9606, "disease": "cardiomyopathy (Disease Ontology:DOID:0050700); intrinsic cardiomyopathy (Disease Ontology:DOID:0060036); familial hypertrophic cardiomyopathy (Disease Ontology:DOID:0080326); COVID-19 (Disease Ontology:DOID:0080600); hypertrophic cardiomyopathy 2 (Disease Ontology:DOID:0110308); dilated cardiomyopathy 1D (Disease Ontology:DOID:0110426); familial restrictive cardiomyopathy 3 (Disease Ontology:DOID:0111427); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930); nemaline myopathy (Disease Ontology:DOID:3191); restrictive cardiomyopathy (Disease Ontology:DOID:397); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:7139); (R-HSA-390522)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10525521;10747208;11034944;11106718;11237011;11684629;12707239;12819028;12832403;12840750;12974739;15542288;15563892;15769782;16199542;16651346;19381846;21846512;23271734;29557506;31154438;31848261;32161166;33003961;35580925;36318533;36368163;36613463;37252999;7498159;7534662;7895342;7898523;8088824;8205619;8344420;8576938;8989109;9060892;9140840;9482583;9689598", "class_list": "", "function": "Cardiac troponin T N-domain variant destabilizes the actin interface resulting in disturbed myofilament function., [RefSeq, PubMed]; Cardiac troponin T as a postmortem biomarker for acute myocardial infarction., [RefSeq, PubMed]; De Novo Asp219Val Mutation in Cardiac Tropomyosin Associated with Hypertrophic Cardiomyopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Diagnostic and prognostic performance of the ratio between high-sensitivity cardiac troponin I and troponin T in patients with chest pain. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the cardiac isoform of troponin T. The encoded protein is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. [provided by RefSeq, May 2022]., [RefSeq]; Troponin T is the tropomyosin-binding subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "prognostic", "glycan_count": 1, "disease_count": 12, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2TDB9;A8K3K6;O60214;Q99596;Q99597;Q9BUF6;Q9UM96", "ec_number_list": [], "go_molecular_function": "GO:0030172 troponin C binding;GO:0003779 actin binding;GO:0042802 identical protein binding;GO:0005523 tropomyosin binding;GO:0031013 troponin I binding", "go_cellular_component": "GO:1990584 cardiac Troponin complex;GO:0005829 cytosol;GO:0005865 striated muscle thin filament;GO:0030017 sarcomere;GO:0097512 cardiac myofibril", "go_biological_process": "GO:0051592 response to calcium ion;GO:0008016 regulation of heart contraction;GO:0030049 muscle filament sliding;GO:0060048 cardiac muscle contraction;GO:0032781 positive regulation of ATP-dependent activity", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P45379-1", "record_type": "protein", "filter_code": "0001000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36021-1", "uniprot_id": [ { "id": "MOT8_HUMAN", "url": "https://www.uniprot.org/uniprot/P36021", "type": "external" } ], "mass": 59511.0, "length": 539, "protein_name": "Monocarboxylate transporter 8", "gene_name": "SLC16A2", "organism": "Human", "refseq_name": "monocarboxylate transporter 8", "refseq_ac": [ { "id": "NP_006508", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006508", "type": "external" } ], "gene_names_uniprotkb": "SLC16A2; MCT7; MCT8; XPCT", "gene_names_refseq": "AHDS; DXS128E; DXS128; MCT 7; MCT 8; MCT7; MCT8; MRX22; SLC16A2; XPCT", "protein_names_uniprotkb": "Monocarboxylate transporter 8; MCT 7; MCT 8; Monocarboxylate transporter 7; Solute carrier family 16 member 2; X-linked PEST-containing transporter", "protein_names_refseq": "X-linked PEST-containing transporter; monocarboxylate transporter 7; monocarboxylate transporter 8; solute carrier family 16, member 2 (thyroid hormone transporter)", "tax_id": 9606, "disease": "Allan-Herndon-Dudley syndrome (Disease Ontology:DOID:0050631); intellectual disability (Disease Ontology:DOID:1059)", "pathway": " (hsa:6567); (R-HSA-879518)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10358072;10601278;11159893;11237011;11316767;12351693;14661163;14993604;15488219;15889350;16887882;16971491;18337592;18398436;18636565;18687783;19797118;20628049;22223895;23550058;23610131;25380603;25527620;26426690;27805744;28526555;28832583;29242379;30343886;30429286;30833945;31436139;31848261;32143555;32157095;32938616;33592498;34087483;35051231;35318648;36010968;38661522;39062808;40140416;40368961;40680733;7981683;8787677", "class_list": "", "function": "Melanocortin-4 Receptor PLC Activation Is Modulated by an Interaction with the Monocarboxylate Transporter 8. Publication Status: Online-Only, [RefSeq, PubMed]; Specific thyroid hormone transmembrane transporter, that mediates both uptake and efflux of thyroid hormones across the cell membrane independently of pH or a Na(+) gradient. Major substrates are the iodothyronines T3 and T4 and to a lesser extent rT3 and 3,3-diiodothyronine (3,3'-T2) (PubMed:16887882, PubMed:18337592, PubMed:20628049, PubMed:23550058, PubMed:27805744, PubMed:31436139, PubMed:26426690, PubMed:38661522, PubMed:40140416, PubMed:40368961, PubMed:40680733). Acts as an important mediator of thyroid hormone transport, especially T3, through the blood-brain barrier (Probable) (PubMed:28526555). Mediates the efflux of 3,5-diiodo-L-tyrosine (DIT) and 3-iodo-L-tyrosine (MIT) (PubMed:38661522)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes an integral membrane protein that functions as a transporter of thyroid hormone. The encoded protein facilitates the cellular importation of thyroxine (T4), triiodothyronine (T3), reverse triiodothyronine (rT3) and diidothyronine (T2). This gene is expressed in many tissues and likely plays an important role in the development of the central nervous system. Loss of function mutations in this gene are associated with psychomotor retardation in males while females exhibit no neurological defects and more moderate thyroid-deficient phenotypes. This gene is subject to X-chromosome inactivation. Mutations in this gene are the cause of Allan-Herndon-Dudley syndrome. [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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 29, "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": "Q7Z797", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0015171 amino acid transmembrane transporter activity;GO:0015349 thyroid hormone transmembrane transporter activity;GO:0008028 monocarboxylic acid transmembrane transporter activity;GO:0022857 transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016324 apical plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006520 amino acid metabolic process;GO:0042403 thyroid hormone metabolic process;GO:2000178 negative regulation of neural precursor cell proliferation;GO:0015718 monocarboxylic acid transport;GO:0070327 thyroid hormone transport", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "P36021-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BV57-1", "uniprot_id": [ { "id": "MTND_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BV57", "type": "external" } ], "mass": 21498.0, "length": 179, "protein_name": "Acireductone dioxygenase", "gene_name": "ADI1", "organism": "Human", "refseq_name": "acireductone dioxygenase isoform 2", "refseq_ac": [ { "id": "NP_001293006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293006", "type": "external" } ], "gene_names_uniprotkb": "ADI1; HMFT1638; MTCBP1", "gene_names_refseq": "ADI1; APL1; ARD'; ARD; Fe-ARD; HMFT1638; MTCBP1; Ni-ARD; SIPL; mtnD", "protein_names_uniprotkb": "Acireductone dioxygenase; 1.13.11.53; 1.13.11.54; ARD'; ARD; Acireductone dioxygenase (Fe(2+)-requiring); Acireductone dioxygenase (Ni(2+)-requiring); Fe-ARD; MTCBP-1; Membrane-type 1 matrix metalloproteinase cytoplasmic tail-binding protein 1; Ni-ARD; Sip-L; Submergence-induced protein-like factor", "protein_names_refseq": "MT1-MMP cytoplasmic tail-binding protein-1; acireductone dioxygenase (Fe(2+)-requiring); acireductone dioxygenase (Ni(2+)-requiring); acireductone dioxygenase isoform 2; membrane-type 1 matrix metalloproteinase cytoplasmic tail binding protein-1; submergence induced protein 2; submergence-induced protein-like factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:55256); (R-HSA-1237112)", "pathway_count": 2, "publication_count": 77, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11443076;11602742;14718544;15221005;15843022;15938715;17212658;17786183;19620624;19892738;22464254;24715725;25418920;25576301;25645385;25892735;26154972;26929215;26992070;27600516;27846572;27920218;28062648;28218747;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29769354;29786170;30066900;30315122;30410026;30487181;30779550;30833945;3091600;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32480040;32488085;32502341;32897882;32938616;32983136;33091337;33298915;33592498;33936100;33968037;34019948;34087483;34171305;34185709;34357683;35051231;35580925;36010968;36215666;36284347;37938771;6785752", "class_list": "", "function": "Acireductone dioxygenase 1 (ADI1) is regulated by cellular iron by a mechanism involving the iron chaperone, PCBP1, with PCBP2 acting as a potential co-chaperone., [RefSeq, PubMed]; Catalyzes 2 different reactions between oxygen and the acireductone 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene) depending upon the metal bound in the active site (By similarity). Fe-containing acireductone dioxygenase (Fe-ARD) produces formate and 2-keto-4-methylthiobutyrate (KMTB), the alpha-ketoacid precursor of methionine in the methionine recycle pathway (PubMed:15938715). Ni-containing acireductone dioxygenase (Ni-ARD) produces methylthiopropionate, carbon monoxide and formate, and does not lie on the methionine recycle pathway (By similarity). Also down-regulates cell migration mediated by MMP14 (PubMed:14718544). Necessary for hepatitis C virus replication in an otherwise non-permissive cell line (PubMed:11602742)., [UniProtKB, PubMed, HAMAP, PubMed, PubMed]; High ADI1 expression is associated with malignant glioma., [RefSeq, PubMed]; MTCBP-1 is a new member of the Cupin superfamily with a role as an invasion suppressor down-regulated in tumors, [RefSeq, PubMed]; Nucleo-cytoplasmic transport of hADI1 is regulated by a non-canonical nuclear export signal (NES) located in the N-terminal region of hADI1., [RefSeq, PubMed]; Pancreatic tumor cell metastasis is restricted by MT1-MMP binding protein MTCBP-1., [RefSeq, PubMed]; The thermal stability of the HsARD isozymes is a function of the metal ion identity, with Ni2+-bound HsARD being the most stable followed by Co2+ and Fe2+, and Mn2+-bound HsARD being the least stable., [RefSeq, PubMed]; This gene encodes an enzyme that belongs to the aci-reductone dioxygenase family of metal-binding enzymes, which are involved in methionine salvage. This enzyme may regulate mRNA processing in the nucleus, and may carry out different functions depending on its localization. Related pseudogenes have been defined on chromosomes 8 and 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 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": 1, "reported_glycation": 0, "reported_snv": 7, "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": "D6W4Y3;Q53HW3;Q53QD3;Q57YV7;Q68CK2;Q6ZSF7;Q7Z512;Q96P85;Q9NV57", "ec_number_list": [ { "id": "1.13.11.54", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.54", "type": "external" }, { "id": "1.13.11.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.53", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0016491 oxidoreductase activity;GO:0016151 nickel cation binding;GO:0010309 acireductone dioxygenase [iron(II)-requiring] activity;GO:0010308 acireductone dioxygenase (Ni2+-requiring) activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0019509 L-methionine salvage from methylthioadenosine;GO:0006555 methionine metabolic process;GO:0009086 methionine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q9BV57-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2J8-1", "uniprot_id": [ { "id": "ZN624_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2J8", "type": "external" } ], "mass": 99929.0, "length": 865, "protein_name": "Zinc finger protein 624", "gene_name": "ZNF624", "organism": "Human", "refseq_name": "zinc finger protein 624", "refseq_ac": [ { "id": "NP_065838", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065838", "type": "external" } ], "gene_names_uniprotkb": "ZNF624; KIAA1349", "gene_names_refseq": "ZNF624", "protein_names_uniprotkb": "Zinc finger protein 624", "protein_names_refseq": "zinc finger protein 624", "tax_id": 9606, "disease": "", "pathway": " (hsa:57547); (R-HSA-212436)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;16959974;20453000;2163759;25505266;25576301;25892735;26992070;28832583;28834231;29242379;29632046;30429286;31844290;32157095;32387766;32983136;33717175;33912179;35051231;35580925;36241641;36581221;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q3SY62;Q3SY63;Q6ZN27", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q9P2J8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H8L6-1", "uniprot_id": [ { "id": "MMRN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H8L6", "type": "external" } ], "mass": 104409.0, "length": 949, "protein_name": "Multimerin-2", "gene_name": "MMRN2", "organism": "Human", "refseq_name": "multimerin-2 precursor", "refseq_ac": [ { "id": "NP_079032", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079032", "type": "external" } ], "gene_names_uniprotkb": "MMRN2; EMILIN3", "gene_names_refseq": "EMILIN-3; EMILIN3; ENDOGLYX-1; MMRN2", "protein_names_uniprotkb": "Multimerin-2; EMILIN-3; Elastin microfibril interface located protein 3; Elastin microfibril interfacer 3; EndoGlyx-1 p125/p140 subunit", "protein_names_refseq": "EMILIN-like protein EndoGlyx-1; elastin microfibril interface located protein 3; elastin microfibril interfacer 3; endoGlyx-1 p125/p140 subunit; multimerin-2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:79812); (R-HSA-5173105)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11559704;16335952;16959974;18566446;19117535;22020326;23090970;25892735;26811146;26992070;27862975;28435016;28671670;28912033;29331515;29391424;29557506;29741879;30429286;30459171;30484775;30544909;31154438;31422156;31848261;32157095;32387766;35051231;35251023;35580925;36284347;37074911;38237698;39775168", "class_list": "", "function": "Extracellular matrix protein (PubMed:22020326, PubMed:28671670, PubMed:28912033). Affects several essential steps in angiogenesis including endothelial cell proliferation, migration, and tube formation (PubMed:22020326, PubMed:28671670, PubMed:28912033). Positively regulates angiogenesis by acting as a ligand for CD93 receptor (PubMed:28671670, PubMed:28912033)., [UniProtKB, PubMed, PubMed, PubMed]; Loss of Multimerin-2 and EMILIN-2 Expression in Gastric Cancer Associate with Altered Angiogenesis Publication Status: Online-Only, [RefSeq, PubMed]; Multimerin-2 maintains vascular stability and permeability., [RefSeq, PubMed]; This gene encodes a protein belonging to the member of elastin microfibril interface-located (EMILIN) protein family. This family member is an extracellular matrix glycoprotein that can interfere with tumor angiogenesis and growth. It serves as a transforming growth factor beta antagonist and can interfere with the VEGF-A/VEGFR2 pathway. A related pseudogene has been identified on chromosome 6. [provided by RefSeq, Aug 2012]., [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": 8, "reported_o_glycosites": 3, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 9, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 9, "total_reported_o_glycosites": 8, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 8, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 8551, "biomarker_type": "", "glycan_count": 89, "disease_count": 0, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "Q504V7;Q6P2N2", "ec_number_list": [], "go_molecular_function": "GO:0048018 receptor ligand activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0005604 basement membrane", "go_biological_process": "GO:0090051 negative regulation of cell migration involved in sprouting angiogenesis;GO:1903588 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis;GO:0001525 angiogenesis;GO:0007155 cell adhesion;GO:0008285 negative regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q9H8L6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51805-1", "uniprot_id": [ { "id": "PLXA3_HUMAN", "url": "https://www.uniprot.org/uniprot/P51805", "type": "external" } ], "mass": 207717.0, "length": 1871, "protein_name": "Plexin-A3", "gene_name": "PLXNA3", "organism": "Human", "refseq_name": "plexin-A3 precursor", "refseq_ac": [ { "id": "NP_059984", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_059984", "type": "external" } ], "gene_names_uniprotkb": "PLXNA3; PLXN4; SEX", "gene_names_refseq": "6.3; HSSEXGENE; PLXN3; PLXN4; PLXNA3; XAP-6", "protein_names_uniprotkb": "Plexin-A3; Plexin-4; Semaphorin receptor SEX", "protein_names_refseq": "Sex chromosome X transmembrane protein of HGF receptor family 3; plexin-4; plexin-A3 precursor; semaphorin receptor SEX", "tax_id": 9606, "disease": "", "pathway": " (hsa:55558); (R-HSA-399954); (R-HSA-399955); (R-HSA-399956)", "pathway_count": 4, "publication_count": 33, "publication_id_list": "10.1101/2023.09.13.557529;10075701;10559936;10679438;10934324;11276226;11278486;11604131;12093729;12372285;12422220;14685275;15652488;15676027;16286926;16930978;17607942;17607944;20138877;21925246;23186163;24190977;25518740;28536997;28585349;30779550;31848261;32161166;34185709;34740135;35494241;36284347;8570614", "class_list": "", "function": "Coreceptor for SEMA3A and SEMA3F. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance in the developing nervous system. Regulates the migration of sympathetic neurons, but not of neural crest precursors. Required for normal dendrite spine morphology in pyramidal neurons. May play a role in regulating semaphorin-mediated programmed cell death in the developing nervous system. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm., [UniProtKB]; Data indicate that plexin A1-4 (PLXNA1-4) mediation of neuroanatomical traits can be detected using in vivo neuroimaging techniques., [RefSeq, PubMed]; Exome analysis of Kuwaiti multiple sclerosis patients revealed a missense variant (rs5945430) in Plexin A3 (PLXNA3) gene (Xq28) associated with male-specific MS severity and disability., [RefSeq, PubMed]; In vitro analysis on PLXNA3 also suggest that this gene may have some form of growth suppressive role in breast cancer, in addition to a similar role for the gene previously reported in ovarian cancer., [RefSeq, PubMed]; Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome., [RefSeq, PubMed]; This gene encodes a member of the plexin class of proteins. The encoded protein is a class 3 semaphorin receptor, and may be involved in cytoskeletal remodeling and as well as apoptosis. Studies of a similar gene in zebrafish suggest that it is important for axon pathfinding in the developing nervous system. This gene may be associated with tumor progression. [provided by RefSeq, Aug 2013]., [RefSeq]", "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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 45, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q5HY36", "ec_number_list": [], "go_molecular_function": "GO:0017154 semaphorin receptor activity", "go_cellular_component": "GO:0002116 semaphorin receptor complex;GO:0005886 plasma membrane", "go_biological_process": "GO:0050770 regulation of axonogenesis;GO:0097485 neuron projection guidance;GO:0051495 positive regulation of cytoskeleton organization;GO:0071526 semaphorin-plexin signaling pathway;GO:0021766 hippocampus development", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "P51805-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCX5-1", "uniprot_id": [ { "id": "RHPN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCX5", "type": "external" } ], "mass": 73590.0, "length": 670, "protein_name": "Rhophilin-1", "gene_name": "RHPN1", "organism": "Human", "refseq_name": "rhophilin-1", "refseq_ac": [ { "id": "NP_443156", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443156", "type": "external" } ], "gene_names_uniprotkb": "RHPN1; KIAA1929", "gene_names_refseq": "ODF5; RHOPHILIN; RHPN1; RHPN", "protein_names_uniprotkb": "Rhophilin-1; GTP-Rho-binding protein 1", "protein_names_refseq": "GTP-Rho-binding protein 1; outer dense fiber of sperm tails 5; rhophilin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:114822); (R-HSA-5666185); (R-HSA-8980692)", "pathway_count": 3, "publication_count": 180, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10591629;10619026;10699171;10873388;10940294;11058585;11085924;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12473120;12531887;12650940;12857875;12877655;14512443;15023524;15064355;15107133;15302923;15342493;15485661;15601624;15611138;15767687;15850391;15866170;16112081;16116428;16184169;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16979770;17077126;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18829452;19494238;19605563;19635168;19673492;19713215;20030946;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21454492;21565175;21699497;21865595;21936715;22096251;22298643;22305756;22673745;22911862;22992742;23200924;23255595;23434736;23572525;23870313;24086303;24128008;24259668;24335996;24352656;24933155;25211221;25576301;25704760;25892735;26371245;26529257;26887924;26992070;27145964;27216196;27481945;27986909;28112683;28196833;28584191;28832583;28834231;28904123;29146911;29242379;29557506;29632046;30429286;30524438;31105010;31154438;31871319;32157095;32203420;32387766;32435875;32488085;32502341;32897882;33968037;35051231;35580925;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": "Has no enzymatic activity. May serve as a target for Rho, and interact with some cytoskeletal component upon Rho binding or relay a Rho signal to other molecules., [UniProtKB, UniProtKB]; LncRNA RHPN1-AS1 accelerates proliferation, migration, and invasion via regulating miR-485-5p/BSG axis 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q8TAV1;Q96PV9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0051497 negative regulation of stress fiber assembly", "synthesized_glycan_count": 0, "hit_score": 18.1, "record_id": "Q8TCX5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96L33-1", "uniprot_id": [ { "id": "RHOV_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96L33", "type": "external" } ], "mass": 26217.0, "length": 236, "protein_name": "Rho-related GTP-binding protein RhoV", "gene_name": "RHOV", "organism": "Human", "refseq_name": "rho-related GTP-binding protein RhoV", "refseq_ac": [ { "id": "NP_598378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_598378", "type": "external" } ], "gene_names_uniprotkb": "RHOV; ARHV; WRCH2", "gene_names_refseq": "ARHV; CHP; RHOV; WRCH2", "protein_names_uniprotkb": "Rho-related GTP-binding protein RhoV; 3.6.5.2; CDC42-like GTPase 2; GTP-binding protein-like 2; Rho GTPase-like protein ARHV; WRCH-2; Wnt-1 responsive Cdc42 homolog 2", "protein_names_refseq": "CDC42-like GTPase 2; GTP-binding protein-like 2; Rho GTPase-like protein ARHV; WRCH-2; WRCH1-related GTPase; Wnt-1 regulated Cdc42 homolog 2; Wnt-1 responsive Cdc42 homolog 2; ras homolog gene family, member V; rho-related GTP-binding protein RhoV", "tax_id": 9606, "disease": "", "pathway": " (hsa:171177); (R-HSA-9013424)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "11839775;11956592;14521508;15664990;17355222;22339630;22424782;23186163;24715725;25576301;26154972;27846572;27920218;28218747;28228285;28904123;29393594;29437277;29508533;29632046;29786170;30315122;30410026;30484775;31217245;31844290;31871319;31937595;32357974;32502341;32938616;33141586;33298915;33717175;34211107;34326698;34834920;35580925;36215666;36241641;36898847;37596964;38959529;9778532", "class_list": "", "function": "A CRISPR Activation Screen Identifies an Atypical Rho GTPase That Enhances Zika Viral Entry. Publication Status: Online-Only, [RefSeq, PubMed]; Cloning and characterization of WRCH2 on human chromosome 15q15, [RefSeq, PubMed]; Data suggest that Chp is implicated in cell transformation, and the unique amino and carboxyl termini of Chp represent atypical mechanisms of regulation of Rho GTPase function., [RefSeq, PubMed]; In vivo CRISPR screens identify RhoV as a pro-metastasis factor of triple-negative breast cancer., [RefSeq, PubMed]; Plays a role in the control of the actin cytoskeleton via activation of the JNK pathway., [UniProtKB, UniProtKB]; Prognostic significance of the rho GTPase RHOV and its role in tumor immune cell infiltration: a comprehensive pan-cancer analysis., [RefSeq, PubMed]; RHOV promotes lung adenocarcinoma cell growth and metastasis through JNK/c-Jun pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Regulation of RHOV signaling by interaction with SH3 domain-containing adaptor proteins and phosphorylation by PKA., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q2KHQ5;Q8TDW6", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.11.1", "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": "3.6.1.-", "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": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "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": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019901 protein kinase binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0007015 actin filament organization;GO:0007165 signal transduction;GO:0007264 small GTPase-mediated signal transduction;GO:0008360 regulation of cell shape", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q96L33-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P32745-1", "uniprot_id": [ { "id": "SSR3_HUMAN", "url": "https://www.uniprot.org/uniprot/P32745", "type": "external" } ], "mass": 45847.0, "length": 418, "protein_name": "Somatostatin receptor type 3", "gene_name": "SSTR3", "organism": "Human", "refseq_name": "somatostatin receptor type 3", "refseq_ac": [ { "id": "NP_001042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001042", "type": "external" } ], "gene_names_uniprotkb": "SSTR3", "gene_names_refseq": "SS-3-R; SS3-R; SS3R; SSR-28; SST3; SSTR3", "protein_names_uniprotkb": "Somatostatin receptor type 3; SS-3-R; SS3-R; SS3R; SSR-28; SST3", "protein_names_refseq": "somatostatin receptor type 3", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:6753); (R-HSA-375276); (R-HSA-418594); (R-HSA-5620922)", "pathway_count": 4, "publication_count": 132, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11252952;11322507;11385580;11457843;11562423;11683476;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15258860;15314642;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;17574030;18127230;18434541;1847994;18577758;19081074;19421068;19575670;20080638;20233871;20603001;21427764;22072986;22139371;22389062;22500027;23351793;23446738;23690594;24296415;24906252;2534964;25443296;25446516;2649896;27101376;2748346;27496565;2834384;3202875;32350084;33372037;3366244;35051231;3525564;35580925;3856870;39197921;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8097479;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9295322;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Expression Analysis of SSTR 1, 2 and 3 in Small-cell Lung Cancer Patients as Targets for Future Peptide Receptor Radionuclide Therapy., [RefSeq, PubMed]; HTR6 and SSTR3 ciliary targeting relies on both IC3 loops and C-terminal tails. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor for somatostatin-14 and -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase., [UniProtKB, PubMed]; This gene encodes a member of the somatostatin receptor protein family. Somatostatins are peptide hormones that regulate diverse cellular functions such as neurotransmission, cell proliferation, and endocrine signaling as well as inhibiting the release of many hormones and other secretory proteins. Somatostatin has two active forms of 14 and 28 amino acids. The biological effects of somatostatins are mediated by a family of G-protein coupled somatostatin receptors that are expressed in a tissue-specific manner. Somatostatin receptors form homodimers and heterodimers with other members of the superfamily as well as with other G-protein coupled receptors and receptor tyrosine kinases. This protein is functionally coupled to adenylyl cyclase. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 15, "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": "A8K550;Q53ZR7", "ec_number_list": [], "go_molecular_function": "GO:0004994 somatostatin receptor activity;GO:0004930 G protein-coupled receptor activity;GO:0005102 signaling receptor binding;GO:0042923 neuropeptide binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005929 cilium;GO:0043005 neuron projection;GO:0097730 non-motile cilium;GO:0060170 ciliary membrane", "go_biological_process": "GO:0007218 neuropeptide signaling pathway;GO:0007267 cell-cell signaling;GO:0008285 negative regulation of cell population proliferation;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0008628 hormone-mediated apoptotic signaling pathway", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "P32745-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDT2-1", "uniprot_id": [ { "id": "RB15B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDT2", "type": "external" } ], "mass": 97205.0, "length": 890, "protein_name": "Putative RNA-binding protein 15B", "gene_name": "RBM15B", "organism": "Human", "refseq_name": "putative RNA-binding protein 15B", "refseq_ac": [ { "id": "NP_037418", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037418", "type": "external" } ], "gene_names_uniprotkb": "RBM15B; OTT3", "gene_names_refseq": "HUMAGCGB; HsOTT3; OTT3; RBM15B", "protein_names_uniprotkb": "Putative RNA-binding protein 15B; HsOTT3; HuOTT3; One-twenty two protein 3; RNA-binding motif protein 15B", "protein_names_refseq": "chromosome 3p21.1 gene sequence; huOTT3; one twenty two protein 3; putative RNA-binding protein 15B", "tax_id": 9606, "disease": "", "pathway": " (hsa:29890)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "16129689;16964243;17081983;17287340;17322306;18212344;18220336;18452278;18491316;18669648;18767875;19586903;19651622;19664994;19664995;19690332;20068231;21044963;21106733;21406692;23186163;23481700;24275569;25892735;26992070;27602518;27846572;27862975;27920218;28063628;28228285;28832583;29242379;29393594;29493099;29557506;29632046;29769354;29786170;30315122;30379171;30429286;30716094;31844290;31848261;32265295;32387766;32488085;32938616;33592498;33717175;33936100;35051231;35580925;36003405;38253038;39302247;40596516", "class_list": "", "function": "BAP1 is highly positively correlated with RBM15B and USP19 expression in invasive breast carcinoma, UM, and colon adenocarcinoma Publication Status: Online-Only, [RefSeq, PubMed]; HHV-8 ORF57 interacts with RBM15 and OTT3 to promote expression of viral intronless genes., [RefSeq, PubMed]; Members of the SPEN (Split-end) family of proteins, including RBM15B, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]., [RefSeq]; N(6)-Methyladenosine regulator RBM15B acts as an independent prognostic biomarker and its clinical significance in uveal melanoma. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-binding protein that acts as a key regulator of N6-methyladenosine (m6A) methylation of RNAs, thereby regulating different processes, such as alternative splicing of mRNAs and X chromosome inactivation mediated by Xist RNA (PubMed:16129689, PubMed:27602518). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:27602518). Plays a key role in m6A methylation, possibly by binding target RNAs and recruiting the WMM complex (PubMed:27602518). Involved in random X inactivation mediated by Xist RNA: acts by binding Xist RNA and recruiting the WMM complex, which mediates m6A methylation, leading to target YTHDC1 reader on Xist RNA and promoting transcription repression activity of Xist (PubMed:27602518). Functions in the regulation of alternative or illicit splicing, possibly by regulating m6A methylation (PubMed:16129689). Inhibits pre-mRNA splicing (PubMed:21044963). Also functions as a mRNA export factor by acting as a cofactor for the nuclear export receptor NXF1 (PubMed:19586903)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The RNA-binding motif protein 15B (RBM15B/OTT3) acts as cofactor of the nuclear export receptor NXF1., [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": 25, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "A4QPG7;Q6QE19;Q9BV96", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0036396 RNA N6-methyladenosine methyltransferase complex;GO:0005634 nucleus;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006397 mRNA processing;GO:0006406 mRNA export from nucleus;GO:0008380 RNA splicing;GO:0009048 dosage compensation by inactivation of X chromosome", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q8NDT2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVE6-1", "uniprot_id": [ { "id": "TM171_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVE6", "type": "external" } ], "mass": 34760.0, "length": 324, "protein_name": "Transmembrane protein 171", "gene_name": "TMEM171", "organism": "Human", "refseq_name": "transmembrane protein 171 isoform 2", "refseq_ac": [ { "id": "NP_001154814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154814", "type": "external" } ], "gene_names_uniprotkb": "TMEM171", "gene_names_refseq": "PRP2; TMEM171", "protein_names_uniprotkb": "Transmembrane protein 171", "protein_names_refseq": "proline-rich protein PRP2; transmembrane protein 171 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:134285)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "12044878;28218747;29557506;30620550;31844290;33936100;33968037;35051231;36215666", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8N0S1;Q8TDT7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8WVE6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4U1-1", "uniprot_id": [ { "id": "MMAC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4U1", "type": "external" } ], "mass": 31728.0, "length": 282, "protein_name": "Cyanocobalamin reductase / alkylcobalamin dealkylase", "gene_name": "MMACHC", "organism": "Human", "refseq_name": "cyanocobalamin reductase / alkylcobalamin dealkylase isoform 2", "refseq_ac": [ { "id": "NP_001317469", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317469", "type": "external" } ], "gene_names_uniprotkb": "MMACHC", "gene_names_refseq": "MMACHC; cblC", "protein_names_uniprotkb": "Cyanocobalamin reductase / alkylcobalamin dealkylase; 1.16.1.6; 2.5.1.151; Alkylcobalamin:glutathione S-alkyltransferase; CblC; Cyanocobalamin reductase (cyanide-eliminating); MMACHC; Methylmalonic aciduria and homocystinuria type C protein", "protein_names_refseq": "alkylcobalamin:glutathione S-alkyltransferase; cyanocobalamin reductase (cyanide-eliminating); cyanocobalamin reductase / alkylcobalamin dealkylase isoform 2; cyanocobalamin reductase / alkylcobalamin dealkylase; methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria; methylmalonic aciduria and homocystinuria type C protein", "tax_id": 9606, "disease": "methylmalonic aciduria and homocystinuria type cblC (Disease Ontology:DOID:0050715)", "pathway": " (hsa:25974); (R-HSA-3359473); (R-HSA-3359474); (R-HSA-9759218)", "pathway_count": 4, "publication_count": 79, "publication_id_list": "10444342;10484769;10978155;11237011;12375236;12438653;12514191;15292234;15523652;15913339;16281286;16311595;16714133;17431913;17477549;17892308;18164228;18245139;18251506;18385497;18669648;18779575;19243433;19370762;19413330;19447654;19690332;19700356;19801555;20068231;20219402;20631720;20657474;21071249;21697092;22156578;22642810;22832074;23186163;23270877;23415655;24714562;25535791;2567699;25809485;25892735;26483544;27771510;28228285;28904123;29769354;30192525;30282455;30315122;31154438;31217245;31844290;32157095;32387766;32897882;32938616;33141586;33298915;33592498;33717175;33797888;33912179;33968037;33981976;34171305;34561969;35618206;35773756;36581221;37643953;38355526;38387306;4390543;8968737", "class_list": "", "function": "C.271dupA (accounting for 55% of the MMACH alleles in our cohort) followed by c.394C>T (16%) and c.331C>T (9%) were the most frequent mutations., [RefSeq, PubMed]; Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations. Publication Status: Online-Only, [RefSeq, PubMed]; Cobalamin (vitamin B12) cytosolic chaperone that catalyzes the reductive decyanation of cyanocob(III)alamin (cyanocobalamin, CNCbl) to yield cob(II)alamin and cyanide, using FAD or FMN as cofactors and NADPH as cosubstrate (PubMed:18779575, PubMed:19700356, PubMed:21697092, PubMed:25809485). Cyanocobalamin constitutes the inactive form of vitamin B12 introduced from the diet, and is converted into the active cofactors methylcobalamin (MeCbl) involved in methionine biosynthesis, and 5'-deoxyadenosylcobalamin (AdoCbl) involved in the TCA cycle (PubMed:19801555). Forms a complex with the lysosomal transporter ABCD4 and its chaperone LMBRD1, to transport cobalamin across the lysosomal membrane into the cytosol (PubMed:25535791). The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR (methionine synthase) which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine (PubMed:21071249, PubMed:27771510). Also acts as a glutathione transferase by catalyzing the dealkylation of the alkylcob(III)alamins MeCbl and AdoCbl, using the thiolate of glutathione for nucleophilic displacement to generate cob(I)alamin and the corresponding glutathione thioether (PubMed:19801555, PubMed:21697092, PubMed:22642810, PubMed:25809485). The conversion of incoming MeCbl or AdoCbl into a common intermediate cob(I)alamin is necessary to meet the cellular needs for both cofactors (PubMed:19801555). Cysteine and homocysteine cannot substitute for glutathione in this reaction (PubMed:19801555)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant., [RefSeq, PubMed]; Most patients (eight of nine patients investigated) were compound heterozygotes for the 271dupA mutation and a missense mutation., [RefSeq, PubMed]; Mutation analysis of the MMACHC gene showed that both patients were homozygous for 394C --> T which suggests a founder effect in Late onset cobalamin C disorder., [RefSeq, PubMed]; One mutation, 271dupA, in MMACHC accounted for 40% of all disease alleles. Erratum:[Nat Genet. 2006 Aug;38(8):957], [RefSeq, PubMed]; The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients., [RefSeq, PubMed]; The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]., [RefSeq]; [Analysis of clinical phenotypes and MMACHC gene variants in 65 children with Methylmalonic acidemia and homocysteinemia]., [RefSeq, PubMed]; [Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 6, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 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": "Q5T157;Q9BRQ7", "ec_number_list": [ { "id": "2.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.13", "type": "external" }, { "id": "1.16.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.8", "type": "external" }, { "id": "1.16.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.6", "type": "external" }, { "id": "2.5.1.151", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.151", "type": "external" } ], "go_molecular_function": "GO:0043295 glutathione binding;GO:0042803 protein homodimerization activity;GO:0071949 FAD binding;GO:0016491 oxidoreductase activity;GO:0032451 demethylase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0009235 cobalamin metabolic process;GO:0070988 demethylation;GO:0006749 glutathione metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9Y4U1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P032-1", "uniprot_id": [ { "id": "NDUF4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P032", "type": "external" } ], "mass": 20266.0, "length": 175, "protein_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4", "gene_name": "NDUFAF4", "organism": "Human", "refseq_name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4", "refseq_ac": [ { "id": "NP_054884", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054884", "type": "external" } ], "gene_names_uniprotkb": "NDUFAF4; C6orf66; HRPAP20; HSPC125; My013", "gene_names_refseq": "C6orf66; HRPAP20; HSPC125; MC1DN15; My013; NDUFAF4; bA22L21.1", "protein_names_uniprotkb": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4; Hormone-regulated proliferation-associated protein of 20 kDa", "protein_names_refseq": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4; NADH dehydrogenase (ubiquinone) complex I, assembly factor 4; NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4; hormone-regulated proliferation-associated protein of 20 kDa; hormone-regulated proliferation-associated protein, 20 kDa", "tax_id": 9606, "disease": "nuclear type mitochondrial complex I deficiency 15 (Disease Ontology:DOID:0112077)", "pathway": " (hsa:29078); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "11220739;14871833;17001319;17909269;17936786;18179882;19463981;19752196;20406883;20552642;20858599;21924235;23186163;23301498;23481700;23553477;24191001;24715725;25255805;25576301;25645385;25678554;26154972;26375851;26758079;26992070;27058226;27499296;27626371;27846572;28218747;28832583;28834231;28853723;28855257;28904123;29242379;29437277;29493099;29508533;29557506;30315122;30410026;30429286;30784271;31092671;31154438;31217245;31530632;31611695;31666358;31844290;31848261;31866046;31998317;32157095;32161166;32320651;32488085;32502341;32983136;33141586;33298915;33635491;33691108;33879611;33882309;33936100;33968037;34171305;34211107;34357683;34932366;35051231;35318648;35333655;35580925;35614220;36010968;36215666;36241641;36284347;37787384;38199007;9571201", "class_list": "", "function": "A genetic variant in gene NDUFAF4 confers the risk of non-small cell lung cancer by perturbing hsa-miR-215 binding., [RefSeq, PubMed]; HRPAP20 and TIMELESS as promising markers of tamoxifen resistance in women with ER alpha-positive breast tumors., [RefSeq, PubMed]; Homozygosity mapping of 5 patients from a consanguineous family with infantile mitochondrial encephalomyopathy resulted in the identification of a missense mutation in a conserved residue of the C6ORF66., [RefSeq, PubMed]; Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:18179882, PubMed:28853723). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]., [RefSeq]; Observations suggest that HRPAP20 may be an important regulator of breast tumor cell invasion by a CaM-mediated mechanism that leads to increased MMP-9 secretion, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R4J5", "ec_number_list": [], "go_molecular_function": "GO:0005516 calmodulin binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0051607 defense response to virus;GO:0032981 mitochondrial respiratory chain complex I assembly", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q9P032-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P03886-1", "uniprot_id": [ { "id": "NU1M_HUMAN", "url": "https://www.uniprot.org/uniprot/P03886", "type": "external" } ], "mass": 35661.0, "length": 318, "protein_name": "NADH-ubiquinone oxidoreductase chain 1", "gene_name": "MT-ND1", "organism": "Human", "refseq_name": "NADH dehydrogenase subunit 1", "refseq_ac": [ { "id": "YP_003024026", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024026", "type": "external" } ], "gene_names_uniprotkb": "MT-ND1; MTND1; NADH1; ND1", "gene_names_refseq": "MTND1; ND1", "protein_names_uniprotkb": "NADH-ubiquinone oxidoreductase chain 1; 7.1.1.2; NADH dehydrogenase subunit 1", "protein_names_refseq": "NADH dehydrogenase subunit 1", "tax_id": 9606, "disease": "Wolfram syndrome (Disease Ontology:DOID:10632); Alzheimer's disease (Disease Ontology:DOID:10652); renal hypertension (Disease Ontology:DOID:1073); anterior ischemic optic neuropathy (Disease Ontology:DOID:12010); Friedreich ataxia (Disease Ontology:DOID:12705); toxic shock syndrome (Disease Ontology:DOID:14115); Parkinson's disease (Disease Ontology:DOID:14330); multiple sclerosis (Disease Ontology:DOID:2377); bipolar disorder (Disease Ontology:DOID:3312); MELAS syndrome (Disease Ontology:DOID:3687); peripheral nervous system disease (Disease Ontology:DOID:574); Leber hereditary optic neuropathy (Disease Ontology:DOID:705); rheumatoid arthritis (Disease Ontology:DOID:7148); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970); Alzheimer disease, susceptibility to, mitochondrial (MONDO:MONDO:0100295)", "pathway": " (hsa:4535); (R-HSA-5419276); (R-HSA-611105); (R-HSA-6799198); (R-HSA-9837999)", "pathway_count": 5, "publication_count": 119, "publication_id_list": "10327278;11130070;11220739;11695836;11923310;12198491;12231006;12611891;12837546;12840039;12949126;1327877;1417830;14623864;14741580;14760490;15250827;15265369;15522782;15870080;16115876;16230336;1674640;17033964;17101804;17297443;1757091;17579211;17803939;17936786;18429816;186667;18782833;1900003;19243582;1928099;1959619;19716793;19752196;19841671;2018041;20186120;20406883;20552642;20858599;21144833;21924235;22172991;22262461;22710082;23150584;23201127;23270816;23553477;23564345;23747254;23931759;239860;24105702;24191001;24315374;24520911;25233460;25564869;25678554;26154972;26504172;26923599;26929434;26992070;27496948;27499296;27626371;27642048;28377575;28396416;28510447;28904123;29301859;29437277;29932645;30120231;31327635;31666358;31695197;31866046;32320651;33141586;33257573;33392160;33879611;33882309;33912179;33936100;33968037;34704252;34943861;35333655;35580925;35614220;35870450;36241641;36302763;36596788;36629048;37141370;37938771;38199007;3921850;4288886;6260957;7219534;7530363;7623837;7733935;8104867;8723687;9571201;9878551", "class_list": "", "function": "Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:1959619). Essential for the catalytic activity and assembly of complex I (PubMed:1959619, PubMed:26929434)., [UniProtKB, PubMed, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 16, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "C0JKH6;Q37523", "ec_number_list": [ { "id": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "7.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.9", "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" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "2.1.1.320", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.320", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "1.3.8.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.7", "type": "external" }, { "id": "1.3.8.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.8.8", "type": "external" } ], "go_molecular_function": "GO:0008137 NADH dehydrogenase (ubiquinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0030425 dendrite;GO:0031966 mitochondrial membrane;GO:0043025 neuronal cell body", "go_biological_process": "GO:0001666 response to hypoxia;GO:0032981 mitochondrial respiratory chain complex I assembly;GO:0006120 mitochondrial electron transport, NADH to ubiquinone;GO:0009410 response to xenobiotic stimulus;GO:0042776 proton motive force-driven mitochondrial ATP synthesis", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "P03886-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H205-1", "uniprot_id": [ { "id": "O2AG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H205", "type": "external" } ], "mass": 35270.0, "length": 316, "protein_name": "Olfactory receptor 2AG1", "gene_name": "OR2AG1", "organism": "Human", "refseq_name": "olfactory receptor 2AG1", "refseq_ac": [ { "id": "NP_001004489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004489", "type": "external" } ], "gene_names_uniprotkb": "OR2AG1; OR2AG3", "gene_names_refseq": "OR11-79; OR2AG1; OR2AG3", "protein_names_uniprotkb": "Olfactory receptor 2AG1; HT3; Olfactory receptor 2AG3; Olfactory receptor OR11-79", "protein_names_refseq": "hT3 olfactory receptor; olfactory receptor 2AG1; olfactory receptor 2AG3; olfactory receptor OR11-79; olfactory receptor, family 2, subfamily AG, member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:144125); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "11416212;14983052;16565291;17005854;24800820;25892735;27515280;29769354;31530632;31974307;32066986", "class_list": "", "function": "OR2AG1 binds beta-arrestin2 with high affinity and is internalized via a clathrin-dependent mechanism., [RefSeq, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]., [RefSeq]; The Hsc70t helps expression of OR2AG1 in heterologous cell systems and helped the characterization of an 'orphan' human olfactory receptor., [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B9EKV7;Q6IFG7;Q96R26", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9H205-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A1L443-1", "uniprot_id": [ { "id": "NTM2F_HUMAN", "url": "https://www.uniprot.org/uniprot/A1L443", "type": "external" } ], "mass": 80770.0, "length": 756, "protein_name": "NUT family member 2F", "gene_name": "NUTM2F", "organism": "Human", "refseq_name": "NUT family member 2F", "refseq_ac": [ { "id": "NP_060031", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060031", "type": "external" } ], "gene_names_uniprotkb": "NUTM2F; FAM22F", "gene_names_refseq": "FAM22F; NUTM2F; NUTMF", "protein_names_uniprotkb": "NUT family member 2F", "protein_names_refseq": "NUT family member 2F; family with sequence similarity 22, member F; protein FAM22F", "tax_id": 9606, "disease": "", "pathway": " (hsa:54754)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "24715725;26154972;29242379;34087483", "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": 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": "B6ZDF0;Q5SR58;Q5SR59;Q9UFB1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "A1L443-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96KJ4-1", "uniprot_id": [ { "id": "MSLNL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96KJ4", "type": "external" } ], "mass": 74540.0, "length": 702, "protein_name": "Mesothelin-like protein", "gene_name": "MSLNL", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MSLNL; C16orf37; MPFL", "gene_names_refseq": "", "protein_names_uniprotkb": "Mesothelin-like protein; Pre-pro-megakaryocyte-potentiating-factor-like", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "11237011;23481700;29557506;35051231;35580925", "class_list": "", "function": "May play a role in cellular adhesion., [UniProtKB]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "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_cellular_component": "GO:0009986 cell surface;GO:0016020 membrane", "go_biological_process": "GO:0007160 cell-matrix adhesion;GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q96KJ4-1", "record_type": "protein", "filter_code": "0000000.1000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5J2-1", "uniprot_id": [ { "id": "MINY1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5J2", "type": "external" } ], "mass": 51778.0, "length": 469, "protein_name": "Ubiquitin carboxyl-terminal hydrolase MINDY-1", "gene_name": "MINDY1", "organism": "Human", "refseq_name": "ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform 2", "refseq_ac": [ { "id": "NP_001035307", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035307", "type": "external" } ], "gene_names_uniprotkb": "MINDY1; FAM63A; KIAA1390", "gene_names_refseq": "FAM63A; MINDY-1; MINDY1", "protein_names_uniprotkb": "Ubiquitin carboxyl-terminal hydrolase MINDY-1; 3.4.19.12; Deubiquitinating enzyme MINDY-1; Protein FAM63A", "protein_names_refseq": "MINDY deubiquitinase 1; MIU-containing novel DUB family member 1; deubiquitinating enzyme MINDY-1; family with sequence similarity 63 member A; motif interacting with Ub-containing novel DUB; protein FAM63A; ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform 2; ubiquitin carboxyl-terminal hydrolase MINDY-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55793)", "pathway_count": 1, "publication_count": 36, "publication_id_list": "11237011;18669648;23186163;24275569;24715725;26992070;27292798;27600516;28082312;28832583;29242379;29393594;29557506;29786170;30379171;30429286;31844290;32157095;32350084;32387766;32502341;32938616;32983136;33298915;33592498;33912179;33968037;34171305;34357683;34405274;34509645;34529927;34645792;35051231;35318648;35580925", "class_list": "", "function": "Hydrolase that can specifically remove 'Lys-48'-linked conjugated ubiquitin from proteins. Has exodeubiquitinase activity and has a preference for long polyubiquitin chains. May play a regulatory role at the level of protein turnover., [UniProtKB, PubMed, PubMed]; MINDY-1 prefers cleaving long polyubiquitin chains and works by trimming chains from the distal end., [RefSeq, PubMed]; MINDY1 promotes breast cancer cell proliferation by stabilizing estrogen receptor alpha. Erratum:[Cell Death Dis. 2022 Jan 27;13(1):88. doi: 10.1038/s41419-022-04549-7. PMID: 35087032] Publication Status: Online-Only, [RefSeq, PubMed]; Mechanism of activation and regulation of deubiquitinase activity in MINDY1 and MINDY2., [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": 40, "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": "B3KWP4;B3KWV8;B4DXF2;B4E1S4;D3DV09;J3KP53;Q5SZF0;Q9NUL9;Q9P2F7", "ec_number_list": [], "go_molecular_function": "GO:0036435 K48-linked polyubiquitin modification-dependent protein binding;GO:0016807 cysteine-type carboxypeptidase activity;GO:0004843 cysteine-type deubiquitinase activity;GO:1990380 K48-linked deubiquitinase activity", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q8N5J2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q70YC5-1", "uniprot_id": [ { "id": "ZN365_HUMAN", "url": "https://www.uniprot.org/uniprot/Q70YC5", "type": "external" } ], "mass": 46542.0, "length": 407, "protein_name": "Protein ZNF365", "gene_name": "ZNF365", "organism": "Human", "refseq_name": "protein ZNF365 isoform A", "refseq_ac": [ { "id": "NP_055766", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055766", "type": "external" } ], "gene_names_uniprotkb": "ZNF365; DBZ; KIAA0844", "gene_names_refseq": "Su48; UAN; ZNF365D; ZNF365", "protein_names_uniprotkb": "Protein ZNF365; DISC1-binding zinc-finger protein; Protein su48", "protein_names_refseq": "DISC1-binding zinc-finger protein; protein ZNF365 isoform A; protein ZNF365; protein su48; talanin", "tax_id": 9606, "disease": "uric acid nephrolithiasis (Disease Ontology:DOID:580)", "pathway": " (hsa:22891)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;12740763;15363853;16385451;16547491;16617106;16682949;17389905;23776040;23966166;29331515;30379171;31530632;32157095;36139424;38094285;38354721", "class_list": "", "function": "A novel gene responsible for UAN was identified in an Italian population., [RefSeq, PubMed]; Involved in the regulation of neurogenesis. Negatively regulates neurite outgrowth (PubMed:17389905). Involved in the morphogenesis of basket cells in the somatosensory cortex during embryogenesis. Involved in the positive regulation of oligodendrocyte differentiation during postnatal growth. Involved in dendritic arborization, morphogenesis of spine density dendrite, and establishment of postsynaptic dendrite density in cortical pyramidal neurons (By similarity). Involved in homologous recombination (HR) repair pathway. Required for proper resolution of DNA double-strand breaks (DSBs) by HR. Is required for recovery of stalled replication forks, and directly contributes to genomic stability. Interacts with PARP1 and mediates MRE11-dependent DNA end resection during replication fork recovery (PubMed:23966166). Contributes to genomic stability by preventing telomere dysfunction (PubMed:23776040)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Lack of ZNF365 Drives Senescence and Exacerbates Experimental Lung Fibrosis. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in uric acid excretion., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Potential Role of Zinc Finger 365 rs10822013 and rs10995190 in Mammographic Density, Sporadic Breast Cancer Risk, and Prognosis. Publication Status: Online-Only, [RefSeq, PubMed]; Reduced Proliferative Capacity and Defense against Staphylococcus aureus in Human Nasal Mucosal Epithelium Lacking ZNF365., [RefSeq, PubMed]; This gene encodes a zinc finger protein that may play a role in the repair of DNA damage and maintenance of genome stability. The N-terminal C2H2 zinc finger motif is required to form a protein complex with PARP1 and MRE11, which are known to be involved in the restart of stalled DNA replication forks. A mutation in this gene may be associated with breast cancer susceptibility. [provided by RefSeq, Mar 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "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": "A8K0F0;O94930;Q05D75;Q5HYE6;Q68SG8;Q6NSK2;Q6P9D4;Q70YC6;Q70YC7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005813 centrosome", "go_biological_process": "GO:0048714 positive regulation of oligodendrocyte differentiation;GO:0140059 dendrite arborization;GO:0010977 negative regulation of neuron projection development;GO:0000723 telomere maintenance;GO:0010975 regulation of neuron projection development", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q70YC5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWX9-1", "uniprot_id": [ { "id": "SELM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWX9", "type": "external" } ], "mass": 16232.0, "length": 145, "protein_name": "Selenoprotein M", "gene_name": "SELENOM", "organism": "Human", "refseq_name": "selenoprotein M precursor", "refseq_ac": [ { "id": "NP_536355", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_536355", "type": "external" } ], "gene_names_uniprotkb": "SELENOM; SELM", "gene_names_refseq": "SELENOM; SELM; SEPM", "protein_names_uniprotkb": "Selenoprotein M; SelM", "protein_names_refseq": "selenoprotein M precursor; selenoprotein SelM", "tax_id": 9606, "disease": "", "pathway": " (hsa:140606)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "11839807;24284396;24332979;25576301;25578973;26154972;27645994;29393594;29557506;31154438;31274247;31768845;31844290;31848261;32938616;33592498;34171305;34561969;35580925;36284347;38665916", "class_list": "", "function": "As Gal-1 plays important roles in preventing neurodegeneration and promoting neuroprotection in the brain, the interaction between SelM' and Gal-1 displays a new direction for studying the biological function of SelM in the human brain. Publication Status: Online-Only, [RefSeq, PubMed]; May function as a thiol-disulfide oxidoreductase that participates in disulfide bond formation., [UniProtKB]; Methylseleninic acid in both cancer cell lines increased the SELM gene expression; the most pronounced effect was observed when fibrosarcoma cells were treated with 10 microM MSA (the expression of the hSelm gene increased almost 4 times)., [RefSeq, PubMed]; Results evidence for the first time an increase of SELM expression in HCC liver tissues, and its gradual expression raise associated with an increased malignancy grade. Publication Status: Online-Only, [RefSeq, PubMed]; Selenoprotein M stimulates the proliferative and metastatic capacities of renal cell carcinoma through activating the PI3K/AKT/mTOR pathway., [RefSeq, PubMed]; The aim of this study has been to analyze the structure-function relationships of SelM., [RefSeq, PubMed]; The protein encoded by this gene belongs to the selenoprotein M/SEP15 family. The exact function of this protein is not known. It is localized in the perinuclear region, is highly expressed in the brain, and may be involved in neurodegenerative disorders. Transgenic mice with targeted deletion of this gene exhibit increased weight gain, suggesting a role for this gene in the regulation of body weight and energy metabolism. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8MPZ2", "ec_number_list": [], "go_molecular_function": "GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q8WWX9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58546-1", "uniprot_id": [ { "id": "MTPN_HUMAN", "url": "https://www.uniprot.org/uniprot/P58546", "type": "external" } ], "mass": 12895.0, "length": 118, "protein_name": "Myotrophin", "gene_name": "MTPN", "organism": "Human", "refseq_name": "myotrophin", "refseq_ac": [ { "id": "NP_665807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_665807", "type": "external" } ], "gene_names_uniprotkb": "MTPN", "gene_names_refseq": "GCDP; MTPN; V-1", "protein_names_uniprotkb": "Myotrophin; Protein V-1", "protein_names_refseq": "granule cell differentiation protein; myotrophin; protein V-1", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); hypertrophic cardiomyopathy (Disease Ontology:DOID:11984); dilated cardiomyopathy (Disease Ontology:DOID:12930); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:136319)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "10329199;11237011;16895918;19608861;20625546;23186163;23301498;24715725;25576301;25645385;25810538;26154972;26992070;27452731;27600516;27846572;27920218;28218747;28300567;28467828;28510447;28832583;28834231;29242379;29314611;29493099;29508533;29557506;29632711;29786170;29847807;30192525;30429286;30524438;30573663;31154438;31217245;31222486;31844290;31848261;32157095;32350084;32483895;32502341;32897882;32938616;32983136;33043033;33141586;33298915;33439151;33537174;33592498;33912179;33936100;33968037;34019948;34170484;34171305;34211107;34357683;34405274;35051231;35154160;38665916", "class_list": "", "function": "Crystal structure of human V-1 in the apo form., [RefSeq, PubMed]; In our findings 9cRA emerges has a hormone with a regulatory action on miR-375 that in most cases interfere with Mtpn expression., [RefSeq, PubMed]; Lysyl oxidase suppresses the inflammatory response in anterior cruciate ligament fibroblasts and promotes tissue regeneration by targeting myotrophin via the nuclear factor-kappa B pathway., [RefSeq, PubMed]; Promotes dimerization of NF-kappa-B subunits and regulates NF-kappa-B transcription factor activity (By similarity). Plays a role in the regulation of the growth of actin filaments. Inhibits the activity of the F-actin-capping protein complex formed by the CAPZA1 and CAPZB heterodimer. Promotes growth of cardiomyocytes, but not cardiomyocyte proliferation. Promotes cardiac muscle hypertrophy., [UniProtKB, PubMed, PubMed, PubMed]; The ATO/miRNA-885-5p/MTPN axis induces reversal of drug-resistance in cholangiocarcinoma., [RefSeq, PubMed]; The transcript produced from this gene is bi-cistronic and can encode both myotrophin and leucine zipper protein 6. The myotrophin protein is associated with cardiac hypertrophy, where it is involved in the conversion of NFkappa B p50-p65 heterodimers to p50-p50 and p65-p65 homodimers. This protein also has a potential function in cerebellar morphogenesis, and it may be involved in the differentiation of cerebellar neurons, particularly of granule cells. A cryptic ORF at the 3' end of this transcript uses a novel internal ribosome entry site and a non-AUG translation initiation codon to produce leucine zipper protein 6, a 6.4 kDa tumor antigen that is associated with myeloproliferative disease. [provided by RefSeq, Jul 2008]., [RefSeq]; V-1 and CARMIL induce changes in both proteins' binding sites on the surface of capping proteins, along with a set of internal residues., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm;GO:0008290 F-actin capping protein complex", "go_biological_process": "GO:0016202 regulation of striated muscle tissue development;GO:0010557 positive regulation of macromolecule biosynthetic process;GO:2000812 regulation of barbed-end actin filament capping;GO:0006417 regulation of translation;GO:0030307 positive regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "P58546-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P68402-1", "uniprot_id": [ { "id": "PA1B2_HUMAN", "url": "https://www.uniprot.org/uniprot/P68402", "type": "external" } ], "mass": 25569.0, "length": 229, "protein_name": "Platelet-activating factor acetylhydrolase IB subunit alpha2", "gene_name": "PAFAH1B2", "organism": "Human", "refseq_name": "platelet-activating factor acetylhydrolase IB subunit alpha2 isoform b", "refseq_ac": [ { "id": "NP_001171675", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171675", "type": "external" } ], "gene_names_uniprotkb": "PAFAH1B2; PAFAHB", "gene_names_refseq": "HEL-S-303; PAFAH1B2", "protein_names_uniprotkb": "Platelet-activating factor acetylhydrolase IB subunit alpha2; 3.1.1.47; PAF acetylhydrolase 30 kDa subunit; PAF-AH 30 kDa subunit; PAF-AH subunit beta; PAFAH subunit beta", "protein_names_refseq": "PAF acetylhydrolase 30 kDa subunit; PAF-AH 30 kDa subunit; PAF-AH subunit beta; PAF-AH1b alpha 2 subunit; PAFAH subunit beta; epididymis secretory protein Li 303; epididymis secretory sperm binding protein; intracellular platelet-activating factor acetylhydrolase alpha 2 subunit; platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa); platelet-activating factor acetylhydrolase IB subunit alpha2 isoform b; platelet-activating factor acetylhydrolase IB subunit alpha2; platelet-activating factor acetylhydrolase IB subunit beta", "tax_id": 9606, "disease": "lymphoma (Disease Ontology:DOID:0060058); status epilepticus (Disease Ontology:DOID:1824)", "pathway": " (hsa:5049); (R-HSA-6798695); (R-HSA-6811436)", "pathway_count": 3, "publication_count": 74, "publication_id_list": "10359595;10559986;10562278;11080672;11237011;11483508;12401177;12432908;12447383;12925777;15483056;15572112;15914536;16207721;16314391;17081983;17488286;17827179;18155631;18641641;18664496;19413330;19635840;19651622;19753100;20058876;20068231;20420828;21173190;21406692;22130221;22562055;23186163;23301498;23333653;23481700;23650620;23783758;24891604;25233431;25453831;27846572;27920218;28832583;28855257;28904123;29508533;29557506;29758199;30192525;30429286;30779550;31154438;31530632;31844290;32157095;32357974;32488085;32502341;33214551;33298915;34019948;34185709;34357683;35051231;35462067;35580925;36241641;8692836;9030515;9050864;9144386;9671731;9733780", "class_list": "", "function": "Alpha2 catalytic subunit of the cytosolic type I platelet-activating factor (PAF) acetylhydrolase (PAF-AH (I)) heterotetrameric enzyme that catalyzes the hydrolyze of the acetyl group at the sn-2 position of PAF and its analogs and modulates the action of PAF. The activity and substrate specificity of PAF-AH (I) are affected by its subunit composition. The alpha2/alpha2 homodimer (PAFAH1B2/PAFAH1B2 homodimer) hydrolyzes PAF and 1-O-alkyl-2-acetyl-sn-glycero-3-phosphorylethanolamine (AAGPE) more efficiently than 1-O-alkyl-2-acetyl-sn-glycero-3-phosphoric acid (AAGPA). In contrast, the alpha1/alpha2 heterodimer(PAFAH1B3/PAFAH1B3 heterodimer) hydrolyzes AAGPA more efficiently than PAF, but has little hydrolytic activity towards AAGPE (By similarity). May play a role in male germ cell meiosis during the late pachytenestage and meiotic divisions as well as early spermiogenesis (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Cathepsin G-induced malignant progression of MCF-7 cells involves suppression of PAF signaling through induced expression of PAFAH1B2., [RefSeq, PubMed]; PAFAH1B2 overexpression in pancreatic ductal adenocarcinoma cells was directly mediated by HIF1a., [RefSeq, PubMed]; Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]., [RefSeq]; Splice variants of the Pafah1b2 gene transcript retain exons 1-5 and replace exon 6 with alternative exons derived from genomic sequence 3' to exon 6. Splice variants encode two proteins with different novel carboxy termini, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8DPS5;A8DPS6;A8DPS7;E9PEJ5;E9PLP3;O00687;Q29459;Q6IBR6", "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": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "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": "2.3.1.43", "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": "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": "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.-", "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": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.1", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "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": "2.3.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.149", "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:0047179 platelet-activating factor acetyltransferase activity;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0044877 protein-containing complex binding;GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity", "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:0006629 lipid metabolic process;GO:0007283 spermatogenesis;GO:0016239 positive regulation of macroautophagy;GO:0062234 platelet activating factor catabolic process;GO:0016042 lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "P68402-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCD5-1", "uniprot_id": [ { "id": "NT5C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCD5", "type": "external" } ], "mass": 23383.0, "length": 201, "protein_name": "5'(3')-deoxyribonucleotidase, cytosolic type", "gene_name": "NT5C", "organism": "Human", "refseq_name": "5'(3')-deoxyribonucleotidase, cytosolic type isoform 2", "refseq_ac": [ { "id": "NP_001239306", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239306", "type": "external" } ], "gene_names_uniprotkb": "NT5C; DNT1; UMPH2", "gene_names_refseq": "DNT1; DNT; HEL74; NT5C; P5N2; PN-II; PN-I; UMPH2; cdN; dNT-1", "protein_names_uniprotkb": "5'(3')-deoxyribonucleotidase, cytosolic type; 3.1.3.-; Cytosolic 5',3'-pyrimidine nucleotidase; Deoxy-5'-nucleotidase 1; dNT-1", "protein_names_refseq": "5' nucleotidase, deoxy (pyrimidine), cytosolic type C; 5'(3')-deoxyribonucleotidase, cytosolic type isoform 2; 5'(3')-deoxyribonucleotidase, cytosolic type; cytosolic 5',3'-pyrimidine nucleotidase; deoxy-5'-nucleotidase 1; epididymis luminal protein 74; epididymis secretory sperm binding protein; uridine 5'-monophosphate phosphohydrolase 2; uridine 5-prime monophosphate hydrolase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:30833); (R-HSA-73621); (R-HSA-74259)", "pathway_count": 3, "publication_count": 67, "publication_id_list": "10075721;10364222;10681516;10766785;10899995;10989446;11083867;11133996;11237011;11278832;11690631;12124385;12234672;12352955;12750059;12849978;12947102;14725767;15385443;1590793;1637327;16377327;17234634;17301077;17405878;17985935;18669648;19291308;19470646;19690332;19748539;20018850;20068231;20081199;20877624;2104852;2129526;2157703;23186163;23203137;2344353;24260472;24531480;25108359;25418920;26768311;26992070;2826576;2848805;28832583;28904123;29393594;3029074;30315122;3036115;31844290;32157095;32502341;32938616;33298915;33968037;6771276;7284378;7488099;8083224;8670112;9718352", "class_list": "", "function": "Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides, with a preference for dUMP (Ref.12). Also dephosphsphorylates dTMP, exhibits intermediate activity towards dGMP, and low activity towards dCMP and dAMP (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a nucleotidase that catalyzes the dephosphorylation of the 5' deoxyribonucleotides (dNTP) and 2'(3')-dNTP and ribonucleotides, but not 5' ribonucleotides. Of the different forms of nucleotidases characterized, this enzyme is unique in its preference for 5'-dNTP. It may be one of the enzymes involved in regulating the size of dNTP pools in cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "Q96HS6;Q9NP82", "ec_number_list": [ { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.91", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.91", "type": "external" }, { "id": "3.1.3.89", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.89", "type": "external" }, { "id": "3.1.3.99", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.99", "type": "external" }, { "id": "3.1.3.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.35", "type": "external" }, { "id": "2.7.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.77", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" } ], "go_molecular_function": "GO:0008254 3'-nucleotidase activity;GO:0008252 nucleotidase activity;GO:0019103 pyrimidine nucleotide binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0046079 dUMP catabolic process;GO:0016311 dephosphorylation;GO:0009223 pyrimidine deoxyribonucleotide catabolic process;GO:0046038 GMP catabolic process;GO:0006249 dCMP catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q8TCD5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H074-1", "uniprot_id": [ { "id": "PAIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H074", "type": "external" } ], "mass": 53525.0, "length": 479, "protein_name": "Polyadenylate-binding protein-interacting protein 1", "gene_name": "PAIP1", "organism": "Human", "refseq_name": "polyadenylate-binding protein-interacting protein 1 isoform 1", "refseq_ac": [ { "id": "NP_006442", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006442", "type": "external" } ], "gene_names_uniprotkb": "PAIP1", "gene_names_refseq": "PAIP1", "protein_names_uniprotkb": "Polyadenylate-binding protein-interacting protein 1; PABP-interacting protein 1; PAIP-1; Poly(A)-binding protein-interacting protein 1", "protein_names_refseq": "PABC1-interacting protein 1; PABP-interacting protein 1; PAIP-1; polyadenylate-binding protein-interacting protein 1 isoform 1; polyadenylate-binding protein-interacting protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10605); (R-HSA-429947); (R-HSA-9820841); (R-HSA-9820865)", "pathway_count": 4, "publication_count": 100, "publication_id_list": "10637334;10882133;10970864;11051545;11172725;11230166;11237011;11283721;11889047;11997512;1355481;14583602;14749774;15475613;16141059;16284618;17052452;17245413;17595167;18625844;19239894;19558367;22223895;23301498;24129315;24366607;24715725;25480299;25576301;25645385;25802875;25892735;26154972;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28510447;28832583;28834231;29242379;29331515;29393594;29437277;29493099;29557506;29632046;29769354;29786170;30315122;30484775;30779550;30833945;31154438;31217245;31373491;31530632;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32488085;32502341;32502391;32938616;33141586;33298915;33592498;33717175;33876849;33936100;33968037;33981976;34171305;34185709;34509645;34561969;34647228;34725712;35051231;35153296;35154160;35318648;35580925;36010968;36215666;36241641;37217939;37316325;37938771;38341068;38665916;9099687;9548260", "class_list": "", "function": "(Microbial infection) Upon interaction with SARS coronavirus SARS-CoV NSP3 protein, plays an important role in viral protein synthesis., [UniProtKB, PubMed]; Acts as a coactivator in the regulation of translation initiation of poly(A)-containing mRNAs. Its stimulatory activity on translation is mediated via its action on PABPC1. Competes with PAIP2 for binding to PABPC1. Its association with EIF4A and PABPC1 may potentiate contacts between mRNA termini. May also be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Effect of PAIP1 on the metastatic potential and prognostic significance in oral squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene interacts with poly(A)-binding protein and with the cap-binding complex eIF4A. It is involved in translational initiation and protein biosynthesis. Overexpression of this gene in COS7 cells stimulates translation. Alternative splicing occurs at this locus and three transcript variants encoding three distinct isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; YAP1-activated ZNF131 promotes hepatocellular carcinoma cell proliferation through transcriptional regulation of PAIP1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 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": "A6NKV8;O60455;Q96B61;Q9BS63", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008494 translation activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0070934 CRD-mediated mRNA stabilization;GO:2000767 positive regulation of cytoplasmic translation;GO:0048255 mRNA stabilization;GO:0006413 translational initiation;GO:0006446 regulation of translational initiation", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q9H074-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3U4-1", "uniprot_id": [ { "id": "STAG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3U4", "type": "external" } ], "mass": 141326.0, "length": 1231, "protein_name": "Cohesin subunit SA-2", "gene_name": "STAG2", "organism": "Human", "refseq_name": "cohesin subunit SA-2 isoform a", "refseq_ac": [ { "id": "NP_001036214", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036214", "type": "external" } ], "gene_names_uniprotkb": "STAG2; SA2", "gene_names_refseq": "HPE13; MKMS; NEDXCF; SA-2; SA2; SCC3B; STAG2; bA517O1.1", "protein_names_uniprotkb": "Cohesin subunit SA-2; SCC3 homolog 2; Stromal antigen 2", "protein_names_refseq": "SA2 stromalin; SCC3 homolog 2; cohesin subunit SA-2 isoform a; cohesin subunit SA-2; sister chromatid cohesion 3 homolog B; stromal antigen 2", "tax_id": 9606, "disease": "Holoprosencephaly 13, X-linked (Disease Ontology:DOID:0060954); Mullegama-Klein-Martinez syndrome (Disease Ontology:DOID:0111845)", "pathway": " (hsa:10735); (R-HSA-1221632); (R-HSA-2467813); (R-HSA-2468052); (R-HSA-2470946); (R-HSA-2500257); (R-HSA-3108214); (R-HSA-9018519)", "pathway_count": 8, "publication_count": 324, "publication_id_list": "10411507;10500157;10574707;10828826;10873660;11010967;11034064;11076961;11081627;11103799;11136970;11165043;11237011;11345900;11371342;11410592;11452016;11509732;11581164;11673449;11682626;11792325;11889051;12034751;12194817;12498683;12612073;12959972;14631847;14675539;14730319;15001666;15125634;15175327;15235794;15276198;15282324;15339662;15343269;15345050;15355988;15514030;15608651;15723797;15737063;15821733;15823533;15829507;15837422;15940266;15958495;15959518;15986123;16009131;16030353;16046058;16087863;16113099;1630819;16478998;16541025;16608850;16626738;16682347;16688858;16810316;16980581;17013392;17081983;17112726;17113138;17277772;17463000;17495528;17510434;17637753;17666587;17690249;17693435;18097444;18187655;18219272;18256232;18322535;18358809;18411254;18452278;18476782;18533032;18614053;18625722;18669648;18691969;18708356;18716626;18762174;18805503;19001364;19020303;19098913;19146767;19274700;19287951;19295514;19321454;19383337;19596686;19608861;19622798;19651622;19664995;19690332;19696148;19706679;19718048;19779455;19956565;19965387;20016594;20016603;20068231;20190268;20219941;20220130;20498280;20570965;20634189;20682797;20705237;21098080;21106759;21111234;21147198;21151129;21284855;21406692;21445275;21550342;21573489;2181374;21835891;21878504;21878914;21934649;21940756;21987589;22056668;22101327;22265404;22492511;22508508;22544926;22545144;22635276;22661230;22704330;22751501;22885700;23145106;23172872;23186163;23192763;23301498;23303788;23403292;23435229;23723241;23750026;23871147;23906331;24027577;24167369;24371278;24397554;24714562;24715725;24735615;24782567;24854081;24885040;24973012;24998469;25114211;25218447;25296600;25365482;25418920;25433557;25542856;25576301;25633194;25645385;25663755;25674852;25728767;25810538;25880248;25892735;26056233;26153859;26154972;26204489;26462610;26479350;26758079;26811146;26929215;26992070;27062924;27397612;27600516;27846572;27862975;27886276;27920218;28063628;28218747;28228285;28296084;28514659;28539435;28832583;28834231;28904123;2919170;29242379;29263825;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30158690;30315122;30429286;30447054;3045126;30484775;30524438;30765867;30779550;30833945;31092671;31154438;31217245;31334757;31530632;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32488085;32502341;3281094;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34260926;34509645;34561969;34932366;3498214;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;3677090;37938771;38279279;38705393;38742641;39084219;40914422;7559524;7935485;7937828;8195246;8197458;8291532;8419924;8794855;8876171;9008167;9201922;9285814;9305759;9338790;9388265;9412458;9452416;9611253;9649503;9671459;9731700;9756909;9885291;9892021", "class_list": "", "function": "Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; STAG2 mutations regulate 3D genome organization, chromatin loops, and Polycomb signaling in glioblastoma multiforme., [RefSeq, PubMed]; STAG2 mutations reshape the cohesin-structured spatial chromatin architecture to drive gene regulation in acute myeloid leukemia., [RefSeq, PubMed]; STAG2: Computational Analysis of Missense Variants Involved in Disease. Publication Status: Online-Only, [RefSeq, PubMed]; Single-molecule imaging reveals a direct role of CTCF's zinc fingers in SA interaction and cluster-dependent RNA recruitment., [RefSeq, PubMed]; The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption of cohesin is a cause of aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 47, "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": "B1AMT5;D3DTF5;O00540;Q5JTI6;Q68DE9;Q9H1N8", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0051301 cell division;GO:0090307 mitotic spindle assembly;GO:0034087 establishment of mitotic sister chromatid cohesion;GO:0051321 meiotic cell cycle;GO:0007062 sister chromatid cohesion", "synthesized_glycan_count": 0, "hit_score": 32.7, "record_id": "Q8N3U4-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15391-1", "uniprot_id": [ { "id": "P2Y14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15391", "type": "external" } ], "mass": 38971.0, "length": 338, "protein_name": "P2Y purinoceptor 14", "gene_name": "P2RY14", "organism": "Human", "refseq_name": "P2Y purinoceptor 14", "refseq_ac": [ { "id": "NP_001074924", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074924", "type": "external" } ], "gene_names_uniprotkb": "P2RY14; GPR105; KIAA0001", "gene_names_refseq": "BPR105; GPR105; P2RY14; P2Y14", "protein_names_uniprotkb": "P2Y purinoceptor 14; G protein-coupled receptor 105; P2Y14; UDP-glucose receptor", "protein_names_refseq": "G protein coupled receptor for UDP-glucose; G-protein coupled receptor 105; P2Y purinoceptor 14; P2Y(14) receptor; P2Y14 receptor; UDP-glucose receptor; purinergic receptor P2Y, G-protein coupled, 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:9934); (R-HSA-417957); (R-HSA-418594)", "pathway_count": 3, "publication_count": 54, "publication_id_list": "10753868;11004484;11007482;11156592;11196645;11237011;11524702;11546776;12120503;12386137;12458155;15199474;15951850;16268477;16634148;16774927;16923326;16959974;16990797;17166850;18297070;18434541;18466763;18577758;19339661;19552634;23890048;24393016;24414167;2534964;26194851;26758983;2748346;27543614;27694321;28089137;2834384;28980705;33011563;3304967;33575962;35385339;36029226;7937899;8015379;8159738;8406495;8537336;8666290;8670200;8720746;9223435;9364473;9405388", "class_list": "", "function": "Expression of the pro-inflammatory P2Y14 receptor in the non-vasectomized and vasectomized human epididymis., [RefSeq, PubMed]; P2Y14 Receptor as a Target for Neutrophilia Attenuation in Severe COVID-19 Cases: From Hematopoietic Stem Cell Recruitment and Chemotaxis to Thrombo-inflammation. Review article, [RefSeq, PubMed]; P2Y14R is downregulated in hCPCs derived from heart failure patients. Augmenting P2Y14R expression levels in aged/diseased hCPCs antagonizes senescence and improves functional responses., [RefSeq, PubMed]; Receptor for UDP-glucose and other UDP-sugar coupled to G-proteins. Not activated by ATP, ADP, UTP or ATP., [UniProtKB, PubMed]; The product of this gene belongs to the family of G-protein coupled receptors, which contains several receptor subtypes with different pharmacological selectivity for various adenosine and uridine nucleotides. This receptor is a P2Y purinergic receptor for UDP-glucose and other UDP-sugars coupled to G-proteins. It has been implicated in extending the known immune system functions of P2Y receptors by participating in the regulation of the stem cell compartment, and it may also play a role in neuroimmune function. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; The purinergic P2Y14 receptor links hepatocyte death to hepatic stellate cell activation and fibrogenesis in the liver., [RefSeq, PubMed]; UDP-glucose, a cellular danger signal, and nucleotide receptor P2Y14 enhance the invasion of human extravillous trophoblast cells., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8IYT7", "ec_number_list": [], "go_molecular_function": "GO:0045029 G protein-coupled UDP receptor activity;GO:0045028 G protein-coupled purinergic nucleotide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q15391-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94979-1", "uniprot_id": [ { "id": "SC31A_HUMAN", "url": "https://www.uniprot.org/uniprot/O94979", "type": "external" } ], "mass": 133015.0, "length": 1220, "protein_name": "Protein transport protein Sec31A", "gene_name": "SEC31A", "organism": "Human", "refseq_name": "protein transport protein Sec31A isoform 4", "refseq_ac": [ { "id": "NP_001070674", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070674", "type": "external" } ], "gene_names_uniprotkb": "SEC31A; HSPC275; HSPC334; KIAA0905; SEC31L1", "gene_names_refseq": "ABP125; ABP130; HPBKS; HSPC275; HSPC334; NEDSOSB; SEC31A; SEC31L1", "protein_names_uniprotkb": "Protein transport protein Sec31A; ABP125; ABP130; SEC31-like protein 1; SEC31-related protein A; Web1-like protein", "protein_names_refseq": "SEC31 homolog A, COPII coat complex component; SEC31 homolog A, COPII coating complex component; SEC31-like protein 1; SEC31-related protein A; protein transport protein Sec31A isoform 4; protein transport protein Sec31A; web1-like protein; yeast Sec31p homolog", "tax_id": 9606, "disease": "Halperin-Birk syndrome (Disease Ontology:DOID:0070539)", "pathway": " (hsa:22872); (R-HSA-204005); (R-HSA-2132295); (R-HSA-381038); (R-HSA-9725370); (R-HSA-983170)", "pathway_count": 6, "publication_count": 416, "publication_id_list": "10.1074/mcp.M114.046862;10036229;10064069;10064083;10072072;10216106;10445031;10480952;10540230;10556217;10559959;10574704;10593899;10600378;10601334;10631941;10631952;10639150;10679020;10702393;10706082;10706887;10747087;10748235;10777614;10788476;10809954;10825291;10827079;10903204;10934142;10982397;11035026;11110708;11160214;11163199;11237011;11280786;11285137;11306556;11310834;11504915;11514579;11529500;11684289;11751994;11790530;11813165;11850821;11853874;11927603;11943732;11988758;12070132;12078484;12112524;12185581;12198549;12204115;12235121;12424201;12436109;12436110;12645939;12742663;12748383;12750159;12800156;12920229;12934099;14681859;14718384;14731593;14962911;15037235;15169778;15208656;15286279;15374880;15466936;15588951;15749704;15895073;15911768;15927284;16153455;16161041;16170336;16181339;16242130;16303754;16461360;16465444;16473882;16495487;16539657;16618111;16624868;16824007;16825495;16871283;16912714;16939498;16957052;17005010;17038314;17056546;17081983;17086210;17088086;17142755;17192411;17196169;17283181;17287728;17316621;17353907;17416736;17428803;17483340;17562788;17625570;17656363;17684057;18046453;18097461;18292509;18452278;18452557;18593892;18594010;18664523;18669648;18701132;18707149;18724359;18767875;18843296;18923523;18923524;18923525;19119025;19164740;19193869;19261456;19342655;19361863;19426129;19456272;19459784;1956401;19564404;19575639;19638414;19651622;19656848;19851281;20068231;20166139;20305658;2038058;20454865;20545907;20605430;20679433;20966969;21050182;21116285;21134980;21164297;21213368;2121367;21282569;21406692;21415216;21441454;21478858;21494621;21532587;21596819;21656749;21689688;21740066;21838707;21847362;21872626;2190094;21993680;22013193;22157747;22249260;22327622;22347464;22358839;22544926;22570254;22658521;22675024;22869377;23104988;23139213;23186163;23201355;23239810;23301498;23378591;23479643;23481700;23661334;23698585;23864707;2391366;23957430;24060861;24119662;24275569;24366607;24445538;24475247;24496003;2450918;24518094;24613930;24714562;24715725;24736082;24917561;25201882;25202031;25342631;25393796;25406594;25418920;25421750;25492864;25505266;25576301;25586378;25619252;25645385;25667979;25813380;25813404;25892735;25921060;26001147;26062823;26154972;26301689;26375851;26811146;26992070;27245569;27397612;27565346;27573755;27600516;27655845;27716508;27846572;27862975;27874193;27920218;28063628;28218747;28228285;28404650;28442536;28510447;28514659;28659337;28741662;28832583;28834231;28904123;29161034;29242379;29331515;29351928;29393594;29437277;29455642;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29873274;29913562;30131584;30315122;30397120;30410026;30429286;30464055;30484775;30524438;30692217;30779550;30833945;31092671;31154438;31217245;31222486;31366041;31530632;31611695;31844290;31848261;31998317;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32870666;32885474;32897882;32938616;32983136;33043033;33123756;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34142147;34171305;34229054;34357683;34509645;34725712;34931806;34932366;35008409;35051231;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38253038;38400880;38665916;39302247;39531497;39534244;40596516;40914422;7481823;7590364;7592972;7642652;7650016;7667286;7824924;7876241;8046351;8134367;8145819;8148318;8221884;8313912;8342042;8397411;8415765;8620540;8633037;8642258;8663406;8666242;8687433;8849454;8909537;8939989;8947036;9037597;9075930;9094723;9150144;9177194;9202021;9307973;9311912;9312039;9450183;9473480;9497313;9539769;9545226;9605141;9606180;9647643;9819383", "class_list": "", "function": "Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER) (PubMed:10788476). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; SEC31A may be associated with pituitary hormone deficiency and gonadal dysgenesis., [RefSeq, PubMed]; The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. 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": 40, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 40, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 40, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 14, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 62, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 40, "binding_glycan_count": 0, "secondary_ac_list": "B4DIW6;B7ZKZ7;B7ZL00;H7C2W3;Q17RR5;Q5H9P6;Q5XG74;Q659G7;Q6ZU90;Q7LCX9;Q86TJ0;Q8IZH4;Q9P048;Q9P0A6;Q9UM05;Q9UM06", "ec_number_list": [], "go_molecular_function": "GO:0048306 calcium-dependent protein binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0030134 COPII-coated ER to Golgi transport vesicle;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0090110 COPII-coated vesicle cargo loading;GO:0015031 protein transport;GO:0051592 response to calcium ion;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:1902953 positive regulation of ER to Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 46.0, "record_id": "O94979-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q00722-1", "uniprot_id": [ { "id": "PLCB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q00722", "type": "external" } ], "mass": 134024.0, "length": 1185, "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2", "gene_name": "PLCB2", "organism": "Human", "refseq_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform 2", "refseq_ac": [ { "id": "NP_001271226", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271226", "type": "external" } ], "gene_names_uniprotkb": "PLCB2", "gene_names_refseq": "PLC-beta-2; PLCB2", "protein_names_uniprotkb": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2; 3.1.4.11; PLC-beta-2; Phosphoinositide phospholipase C-beta-2; Phospholipase C-beta-2", "protein_names_refseq": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform 2; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2; phosphoinositide phospholipase C-beta-2", "tax_id": 9606, "disease": "congenital heart disease (Disease Ontology:DOID:1682); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5330); (R-HSA-112043); (R-HSA-1855204); (R-HSA-399997); (R-HSA-4086398); (R-HSA-416476); (R-HSA-418217); (R-HSA-434316); (R-HSA-500657); (R-HSA-9717207)", "pathway_count": 10, "publication_count": 210, "publication_id_list": "10191087;10380924;10391246;10391247;10395542;10488343;10567430;10588714;10593988;10727532;10761935;10777564;10858654;10861009;10866302;11015615;11022047;11022048;11030334;11042108;11118617;11237011;11563835;11588141;11742120;11753430;11909533;11917125;12015605;12015988;12086864;12120503;12194018;12223481;12471263;12482967;12496284;12556497;12565875;12629551;12729560;12747803;12975316;1322796;1325650;1333955;14634208;14704854;14977528;15037625;15140260;1527003;15316017;15353592;15385606;15448129;15474001;15494017;15545263;15579586;15611108;15702972;15738140;15790568;15914509;15951850;16081037;16107206;16182515;16242307;16268778;16289108;16339447;1644792;16753580;16754659;16871065;16880514;16920709;16923326;17081983;17095603;17101212;17115053;17130640;17167479;1718960;17395749;17426020;17506496;17684012;17900700;17919190;17962409;18383439;18434541;18452278;18456304;1846707;18488142;18515384;18577758;18606873;18827341;18936096;1905813;19104071;19177143;19179337;19212142;19342380;19398560;19401434;19413330;19536106;19696921;19758793;19851316;20007474;20022913;20033988;21118996;21422378;21795555;21903638;22941947;23151663;23256519;23416699;23481700;23625927;23632248;23632330;23904219;24130766;24157691;24214976;24275569;24360415;24633359;2550068;25853419;25892735;26154972;26377607;26590425;26992070;27920218;28228285;28256214;2841328;28832583;28870198;29242379;29393594;29466837;29493099;29557506;29632046;29659026;29744740;29769354;29786170;30013099;30315122;30429286;30563861;30582225;3086311;31154438;31746389;31844290;31848261;32157095;32350084;32387766;32983136;34185709;34509645;35051231;35580925;35861069;36284347;38253038;7720699;7721860;7761412;7890667;7937899;7989336;8132675;8190105;8288584;8407970;8454637;8530101;8662638;8664309;8723348;8769125;9065781;9073455;9188725;9305846;9360711;9389482;9430698;9593664;9770463;9808756", "class_list": "", "function": "High PLCB2 expression is associated with breast cancer., [RefSeq, PubMed]; Knockdown of PLCB2 expression reduces melanoma cell viability and promotes melanoma cell apoptosis by altering Ras/Raf/MAPK signals., [RefSeq, PubMed]; PLCbeta2 Promotes VEGF-Induced Vascular Permeability., [RefSeq, PubMed]; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes (PubMed:1644792, PubMed:9188725). In neutrophils, participates in a phospholipase C-activating N-formyl peptide-activated GPCR (G protein-coupled receptor) signaling pathway by promoting RASGRP4 activation by DAG, to promote neutrophil functional responses (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protein is activated by G proteins and has been shown to be involved in the type 2 taste receptor signal transduction pathway. In addition, nuclear factor kappa B can regulate the transcription of this gene, whose protein product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017]., [RefSeq]; This work adds substantial information about the role of PLC-beta2 in invasive breast tumors, demonstrating that its up-regulation in cells with a basal-B triple-negative phenotype is sufficient to down-modulate the expression of surface antigens crucial for malignancy and to reduce the number of cells with a stem-like phenotype. 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": 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": 1, "reported_glycation": 0, "reported_snv": 22, "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": "A8K6J2;B9EGH5", "ec_number_list": [ { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" } ], "go_molecular_function": "GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity;GO:0005543 phospholipid binding;GO:0004629 phospholipase C activity;GO:0031683 G-protein beta/gamma-subunit complex binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0031680 G-protein beta/gamma-subunit complex;GO:0098992 neuronal dense core vesicle;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0016042 lipid catabolic process;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0051209 release of sequestered calcium ion into cytosol;GO:0060326 cell chemotaxis", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "Q00722-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQR4-1", "uniprot_id": [ { "id": "NIT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQR4", "type": "external" } ], "mass": 30608.0, "length": 276, "protein_name": "Omega-amidase NIT2", "gene_name": "NIT2", "organism": "Human", "refseq_name": "omega-amidase NIT2", "refseq_ac": [ { "id": "NP_064587", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064587", "type": "external" } ], "gene_names_uniprotkb": "NIT2; CUA002", "gene_names_refseq": "HEL-S-8a; NIT2", "protein_names_uniprotkb": "Omega-amidase NIT2; 3.5.1.3; Nitrilase homolog 2", "protein_names_refseq": "Nit protein 2; epididymis secretory sperm binding protein Li 8a; nitrilase homolog 2; omega-amidase NIT2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56954); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10959838;11237011;14528910;15592455;17287340;17488281;18083107;18452278;19595734;20934997;22674578;23650620;24275569;24714562;24715725;25008847;25576301;25645385;25738796;25810538;25892735;26154972;26375851;26728094;26768311;26992070;27397612;27846572;27920218;28467828;28514659;28834231;28904123;29242379;29557506;29769354;29789417;30315122;30429286;30573663;30833945;31020640;31844290;31925645;32157095;32350084;33043033;33214551;33717175;33968037;34087483;34171305;34391728;34561969;34932366;35154160;38665916;8692836", "class_list": "", "function": "A novel efficient producer of human omega-amidase (Nit2) in Escherichia coli., [RefSeq, PubMed]; Downregulation of NIT2 inhibits colon cancer cell proliferation and induces cell cycle arrest through the caspase-3 and PARP pathways, [RefSeq, PubMed]; Genotype analysis in 4 types of tumor tissue showed allelic imbalance surrounding NIT2 locus; results show that NIT2 plays an important role in cell growth inhibition & links to malignancies, suggesting Nit2 may be a potential tumor suppressor candidate, [RefSeq, PubMed]; Has omega-amidase activity (PubMed:19595734, PubMed:22674578). The role of omega-amidase is to remove potentially toxic intermediates by converting 2-oxoglutaramate and 2-oxosuccinamate to biologically useful 2-oxoglutarate and oxaloacetate, respectively (PubMed:19595734)., [UniProtKB, PubMed, PubMed]; Human NIT1/2 are not involved in the metabolism of vildagliptin., [RefSeq, PubMed]; NIT2 overexpression predicts poor prognosis in tongue squamous cell carcinoma patients., [RefSeq, PubMed]; The activity and substrate specificity of human Nit2 was determined with alpha-ketoglutaramate and succinamate as substrates., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2R9A3;D3DN47;Q8WUF0", "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": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "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": "4.1.2.13", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.13", "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": "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": "3.4.24.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.35", "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": "3.4.22.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.27", "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": "2.7.10.2", "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": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.2.1.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.14", "type": "external" }, { "id": "3.5.1.23", "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": "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": "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": "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:0050152 omega-amidase activity;GO:0106008 2-oxoglutaramate amidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005739 mitochondrion;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0035580 specific granule lumen", "go_biological_process": "GO:0006528 asparagine metabolic process;GO:0006107 oxaloacetate metabolic process;GO:0006541 glutamine metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9NQR4-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N323-1", "uniprot_id": [ { "id": "NXPE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N323", "type": "external" } ], "mass": 63178.0, "length": 547, "protein_name": "NXPE family member 1", "gene_name": "NXPE1", "organism": "Human", "refseq_name": "NXPE family member 1 isoform 2", "refseq_ac": [ { "id": "NP_689528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689528", "type": "external" } ], "gene_names_uniprotkb": "NXPE1; FAM55A", "gene_names_refseq": "FAM55A; NXPE1", "protein_names_uniprotkb": "NXPE family member 1; Protein FAM55A", "protein_names_refseq": "NXPE family member 1 isoform 2; NXPE family member 1; family with sequence similarity 55, member A; protein FAM55A", "tax_id": 9606, "disease": "", "pathway": " (hsa:120400)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;29557506", "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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "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": "B0YJ13", "ec_number_list": [], "go_molecular_function": "GO:0047186 N-acetylneuraminate 9-O-acetyltransferase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005794 Golgi apparatus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8N323-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95340-1", "uniprot_id": [ { "id": "PAPS2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95340", "type": "external" } ], "mass": 69501.0, "length": 614, "protein_name": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2", "gene_name": "PAPSS2", "organism": "Human", "refseq_name": "bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 isoform b", "refseq_ac": [ { "id": "NP_001015880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015880", "type": "external" } ], "gene_names_uniprotkb": "PAPSS2; ATPSK2", "gene_names_refseq": "ATPSK2; BCYM4; PAPSS2; SK2", "protein_names_uniprotkb": "Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2; 3'-phosphoadenosine-5'-phosphosulfate synthase; APS kinase; ATP-sulfurylase; Adenosine-5'-phosphosulfate 3'-phosphotransferase; Adenylylsulfate 3'-phosphotransferase; PAPS synthase 2; PAPSS 2; SAT; SK 2; SK2; Sulfate adenylate transferase; Sulfurylase kinase 2", "protein_names_refseq": "3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2; ATP sulfurylase/APS kinase 2; ATP sulfurylase/adenosine 5'-phosphosulfate kinase; PAPS synthase 2; PAPS synthetase 2; SK 2; adenylyl-sulfate kinase; bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 isoform b; bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2; bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthethase 2; epididymis secretory sperm binding protein; sulfate adenylyltransferase", "tax_id": 9606, "disease": "spondyloepimetaphyseal dysplasia, Pakistani type (Disease Ontology:DOID:0050812); obsolete spondyloepimetaphyseal dysplasia, Pakistani type (MONDO:MONDO:0013019)", "pathway": " (hsa:9060); (R-HSA-174362); (R-HSA-2408550); (R-HSA-3560796)", "pathway_count": 4, "publication_count": 86, "publication_id_list": "10455115;10559207;10679223;11773860;12626430;12713736;12716889;12759755;1321713;16492677;19474428;20068231;22791835;23506885;23633440;23824674;2537056;25576301;25594860;25645385;25892735;26154972;26992070;27600516;27920218;28063628;28510447;28832583;29242379;29393594;29557506;29632046;29769354;29786170;29789417;30315122;30429286;30484775;30779550;30833945;31154438;31222486;31530632;31844290;31848261;32157095;32161166;32265295;32488085;32897882;32938616;32983136;33123756;33298915;33592498;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34509645;34818583;34932366;35051231;35154160;35261200;35318648;35325049;35580925;36010968;36215666;36241641;36284347;37207644;37938771;38084048;38665916;7923357;8300633;8619989;9576487;9668121;9714015;9771708", "class_list": "glycogene", "function": "Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the second step is the transfer of a phosphate group from ATP to APS yielding 3'-phosphoadenylylsulfate/PAPS, the activated sulfate donor used by sulfotransferases (PubMed:11773860, PubMed:19474428, PubMed:23824674, PubMed:25594860). In mammals, PAPS is the sole source of sulfate while APS appears to only be an intermediate in the sulfate-activation pathway (PubMed:11773860, PubMed:19474428, PubMed:23824674, PubMed:25594860). Plays indirectly an important role in skeletogenesis during postnatal growth (PubMed:9771708)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Bone Phenotype is Always Present But Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency. Review article, [RefSeq, PubMed]; Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families., [RefSeq, PubMed]; Redox switching mechanism of the adenosine 5'-phosphosulfate kinase domain (APSK2) of human PAPS synthase 2., [RefSeq, PubMed]; Structural basis for the substrate recognition mechanism of ATP-sulfurylase domain of human PAPS synthase 2., [RefSeq, PubMed]; Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3'-phosphoadenosine 5'-phosphosulfate (PAPS), created from ATP and inorganic sulfate. Two different tissue isoforms encoded by different genes synthesize PAPS. This gene encodes one of the two PAPS synthetases. Defects in this gene cause the Pakistani type of spondyloepimetaphyseal dysplasia. Two 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 771, "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": "Q9BZL2;Q9P0G6;Q9UHM1;Q9UKD3;Q9UP30", "ec_number_list": [ { "id": "2.7.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.25", "type": "external" }, { "id": "2.7.7.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.4", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0016779 nucleotidyltransferase activity;GO:0004020 adenylylsulfate kinase activity;GO:0004781 sulfate adenylyltransferase (ATP) activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0042445 hormone metabolic process;GO:0000103 sulfate assimilation;GO:0050428 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "O95340-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VST9-1", "uniprot_id": [ { "id": "OBSCN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VST9", "type": "external" } ], "mass": 868465.0, "length": 7968, "protein_name": "Obscurin", "gene_name": "OBSCN", "organism": "Human", "refseq_name": "obscurin isoform c", "refseq_ac": [ { "id": "NP_001373054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001373054", "type": "external" } ], "gene_names_uniprotkb": "OBSCN; KIAA1556; KIAA1639", "gene_names_refseq": "ARHGEF30; OBSCN; RHABDO1; UNC89", "protein_names_uniprotkb": "Obscurin; 2.7.11.1; Obscurin-MLCK; Obscurin-RhoGEF; Obscurin-myosin light chain kinase", "protein_names_refseq": "obscurin isoform c; obscurin, myosin light chain kinase; obscurin-MLCK", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); myopathy (Disease Ontology:DOID:423); rhabdomyolysis, susceptibility to, 1 (MONDO:MONDO:0859371)", "pathway": " (hsa:84033); (R-HSA-193648); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013406)", "pathway_count": 5, "publication_count": 253, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;10967094;11058585;11085924;11185749;11207612;11237011;11283606;11294240;11313914;11373293;11396949;11431473;11432776;11448995;11606631;11672528;11680691;11689693;11704860;11717165;11742120;11756498;11804589;11804590;11814696;11884391;11912491;12071859;12093360;12097334;12101119;12123608;12195014;12221077;12221096;12242347;12433842;12456725;12515866;12527750;12531887;12618763;12650940;12773384;12857875;12877655;14512443;14673001;15023524;15064355;15107133;15302923;15342493;15470142;15485661;15546864;15601624;15611138;15699075;15749160;15850391;15866170;15951850;16112081;16116428;16184169;16205939;16212495;16217026;16467373;16519628;16625316;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16923326;16959974;17077126;17214551;17344846;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18374420;18577758;18829452;19212140;19258391;19494238;19605563;19635168;19673492;19713215;20030946;20101212;20220067;20400958;20591975;20628200;20660154;21148482;21351730;21454492;21565175;21699497;21865595;21936715;22096251;22298643;22305756;22661716;22673745;22911862;22992742;23186163;23200924;23255595;23434736;23481700;23572525;23870313;24086303;24128008;24259668;24297911;24335996;24352656;24355937;24715725;24933155;25173926;25211221;25367160;25414122;25645385;25678704;25704760;26371245;26529257;26887924;26992070;27072905;27145964;27216196;27481945;27986909;28112683;28196833;28218747;28228285;28510447;28514659;28584191;28826662;28832583;28904123;29146911;29242379;29393594;29437277;29557506;29632711;29786170;30007591;30192525;30379171;30410026;31105010;31154438;31217245;31844290;31871319;32161166;32203420;32387766;32488085;32502341;32938616;33298915;33592498;33633747;33968037;33981976;34171305;34826548;34957489;35051231;35154160;35494241;35580925;36010968;36215666;37217939;38127465;38159459;38253038;7479768;7673236;7721814;7753201;7937899;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9308960;9418861;9490638;9497316;9520479;9535835;9548756;9659915;9670022;9792683;9796816;9822605;9829970;9857026", "class_list": "", "function": "Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis., [RefSeq, PubMed]; Essential role of obscurin kinase-1 in cardiomyocyte coupling via N-cadherin phosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; Giant obscurin regulates migration and metastasis via RhoA-dependent cytoskeletal remodeling in pancreatic cancer., [RefSeq, PubMed]; Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis., [RefSeq, PubMed]; Structural component of striated muscles which plays a role in myofibrillogenesis. Probably involved in the assembly of myosin into sarcomeric A bands in striated muscle (PubMed:11448995, PubMed:16205939). Has serine/threonine protein kinase activity and phosphorylates N-cadherin CDH2 and sodium/potassium-transporting ATPase subunit ATP1B1 (By similarity). Binds (via the PH domain) strongly to phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), and to a lesser extent to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate (PtdIns(4)P), phosphatidylinositol 5-phosphate (PtdIns(5)P) and phosphatidylinositol 3,4,5-trisphosphate (PtdIns(3,4,5)P3) (PubMed:28826662)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The complete gene giant muscle protein obscurin was analysed. The fusion of the conventional obscurin A, containing only the GEF domain, and obscurin B, fusing into the 3' kinase exons, was experimentally confirmed and analysed., [RefSeq, PubMed]; The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants 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": 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": 17, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 173, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "A0A7P0Z489;Q2A664;Q5T7G8;Q5T7G9;Q5VSU2;Q86YC7;Q8NHN0;Q8NHN1;Q8NHN2;Q8NHN3;Q8NHN4;Q8NHN5;Q8NHN6;Q8NHN7;Q8NHN8;Q8NHN9;Q96AA2;Q9HCD3;Q9HCL6", "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": "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": "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:0010314 phosphatidylinositol-5-phosphate binding;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005516 calmodulin binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0042383 sarcolemma;GO:0030018 Z disc;GO:0031430 M band", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0045214 sarcomere organization;GO:0036309 protein localization to M-band;GO:0030154 cell differentiation;GO:1902531 regulation of intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 26.3, "record_id": "Q5VST9-1", "record_type": "protein", "filter_code": "0000000.1100111.000010.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75747-1", "uniprot_id": [ { "id": "P3C2G_HUMAN", "url": "https://www.uniprot.org/uniprot/O75747", "type": "external" } ], "mass": 170682.0, "length": 1486, "protein_name": "Phosphatidylinositol 3-kinase C2 domain-containing subunit gamma", "gene_name": "PIK3C2G", "organism": "Human", "refseq_name": "phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform 1", "refseq_ac": [ { "id": "NP_001275701", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275701", "type": "external" } ], "gene_names_uniprotkb": "PIK3C2G", "gene_names_refseq": "PI3K-C2-gamma; PI3K-C2GAMMA; PIK3C2G", "protein_names_uniprotkb": "Phosphatidylinositol 3-kinase C2 domain-containing subunit gamma; 2.7.1.137; 2.7.1.154; PI3K-C2-gamma; Phosphoinositide 3-kinase-C2-gamma; PtdIns-3-kinase C2 subunit gamma", "protein_names_refseq": "PTDINS-3-kinase C2 gamma; phosphatidylinositol 3-kinase C2 domain-containing subunit gamma isoform 1; phosphatidylinositol 3-kinase C2 domain-containing subunit gamma; phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing gamma polypeptide; phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit gamma; phosphoinositide-3-kinase, class 2, gamma polypeptide", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:5288); (R-HSA-1660499); (R-HSA-1660514)", "pathway_count": 3, "publication_count": 107, "publication_id_list": "10101268;10194451;10224048;10419465;10555148;10559940;10567352;10593988;10753883;10764818;10766823;10805725;10806194;10822173;11001876;11084340;11237011;11279162;11302699;11349134;11604140;11676921;11706043;11716755;11733541;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12808147;12847086;14516276;14527956;14617813;14659893;14660569;15080793;15107860;15135396;15464023;15716355;15797027;15840652;16154996;16399794;16476736;16522682;16914545;16979564;17008356;17245604;17487921;17555535;17556371;17651088;17924679;17991425;18093523;18753295;18950639;19038970;19211563;19668216;19896968;20534812;21204784;22037487;22647598;23519112;23758345;24983663;25495341;30192525;33387369;33666217;38253038;7608176;7624799;7628435;7761412;8634694;8681945;8723348;8769125;8999962;9094719;9113989;9148941;9211928;9286278;9295334;9367159;9405935;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063;9878262", "class_list": "", "function": "Class II phosphatidylinositol 3-kinase isoforms in vesicular trafficking. Review article, [RefSeq, PubMed]; Data indicate substituents of benzensulfonamide and pyrazine as phosphoinositide 3-kinase-C2gamma (PI3K-C2GAMMA) inhibitors., [RefSeq, PubMed]; Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers (By similarity). May play a role in SDF1A-stimulated chemotaxis (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; The molecular mechanisms mediating class II PI 3-kinase function in cell physiology. Review article, [RefSeq, PubMed]; The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 53, "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": "A1L3U0;F5H369", "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": "2.7.1.154", "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" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0035091 phosphatidylinositol binding;GO:0016303 1-phosphatidylinositol-3-kinase activity;GO:0035005 1-phosphatidylinositol-4-phosphate 3-kinase activity;GO:0052742 phosphatidylinositol kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process;GO:0006935 chemotaxis;GO:0016477 cell migration;GO:0048015 phosphatidylinositol-mediated signaling;GO:0043491 phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "O75747-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95398-1", "uniprot_id": [ { "id": "RPGF3_HUMAN", "url": "https://www.uniprot.org/uniprot/O95398", "type": "external" } ], "mass": 103751.0, "length": 923, "protein_name": "Rap guanine nucleotide exchange factor 3", "gene_name": "RAPGEF3", "organism": "Human", "refseq_name": "rap guanine nucleotide exchange factor 3 isoform b", "refseq_ac": [ { "id": "NP_001092002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092002", "type": "external" } ], "gene_names_uniprotkb": "RAPGEF3; CGEF1; EPAC1; EPAC", "gene_names_refseq": "CAMP-GEFI; EPAC1; EPAC; HSU79275; RAPGEF3; bcm910", "protein_names_uniprotkb": "Rap guanine nucleotide exchange factor 3; EPAC 1; Exchange factor directly activated by cAMP 1; Exchange protein directly activated by cAMP 1; Rap1 guanine-nucleotide-exchange factor directly activated by cAMP; cAMP-GEFI; cAMP-regulated guanine nucleotide exchange factor I", "protein_names_refseq": "9330170P05Rik; EPAC 1; Rap guanine nucleotide exchange factor (GEF) 3; Rap1 guanine-nucleotide-exchange factor directly activated by cAMP; cAMP-regulated guanine nucleotide exchange factor I; exchange factor directly activated by cAMP 1; exchange protein directly activated by cAMP 1; rap guanine nucleotide exchange factor 3 isoform b", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); congestive heart failure (Disease Ontology:DOID:6000)", "pathway": " (hsa:10411); (R-HSA-354192); (R-HSA-381676); (R-HSA-392517); (R-HSA-422356)", "pathway_count": 5, "publication_count": 164, "publication_id_list": "10194514;10206966;10318832;10342826;10424882;10446041;10526167;10773014;10777494;10866047;10868950;10896934;10964917;11071853;11078440;11078469;11237011;11264248;11476890;11577798;11716850;11780755;11801596;11815450;11815460;11815462;11815463;11873862;11940607;12034449;12180908;12196472;12401793;12403834;12410638;12469113;12475777;12475787;12496249;12684222;12764427;12887316;12938160;1309948;13459201;13680124;14514350;14754902;14988243;15000528;15157149;15305887;15334074;15469846;15504896;15569269;15572341;15585596;15632203;15678092;15955806;15995848;16005629;16040750;16076873;16115959;16332676;16443778;16513675;16556766;16613879;16714477;16757337;16868246;16919435;16973695;17021801;17095603;17218263;1722201;17259518;17306374;17380317;17444618;17624957;17660294;17900700;17919183;18039662;18162464;18202100;18287102;18346985;18412318;18434644;1846040;18577758;18596924;19587354;19859570;19861722;20086079;21393242;21840392;23992284;26308095;26517901;27862975;29108130;29485866;29557506;31067468;31154438;31844290;32502341;33298915;33912179;33968037;34405274;35051231;3517644;35580925;35834616;35892592;37684224;38195707;38963422;3923453;39894887;6019353;6424440;6435940;7513017;7589461;7589840;7593639;7641683;7929812;8027028;8138058;8253074;8404634;8405712;8457197;8631894;8675920;8755247;8830891;8987985;8997178;9115221;9346962;9350615;9351824;9417641;9488697;9726229;9739505;9751501;9789079;9853756;9856955;9914469;9920805", "class_list": "", "function": "Absence of EPAC1 Signaling to Stabilize CFTR in Intestinal Organoids. Publication Status: Online-Only, [RefSeq, PubMed]; Cyclic AMP induces reversible EPAC1 condensates that regulate histone transcription. Publication Status: Online-Only, [RefSeq, PubMed]; EPAC Regulates Melanoma Growth by Stimulating mTORC1 Signaling and Loss of EPAC Signaling Dependence Correlates with Melanoma Progression., [RefSeq, PubMed]; EPAC1 enhances brown fat growth and beige adipogenesis., [RefSeq, PubMed]; Guanine nucleotide exchange factor (GEF) for RAP1A and RAP2A small GTPases that is activated by binding cAMP. Through simultaneous binding of PDE3B to RAPGEF3 and PIK3R6 is assembled in a signaling complex in which it activates the PI3K gamma complex and which is involved in angiogenesis. Plays a role in the modulation of the cAMP-induced dynamic control of endothelial barrier function through a pathway that is independent on Rho-mediated signaling. Required for the actin rearrangement at cell-cell junctions, such as stress fibers and junctional actin., [UniProtKB, PubMed, PubMed, PubMed]; Protein SUMOylation promotes cAMP-independent EPAC1 activation. Publication Status: Online-Only, [RefSeq, PubMed]; Role in regulating protein kinase B activity, [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": 3, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 21, "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": "A8K2G5;E7EQC8;O95634;Q8WVN0", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0030552 cAMP binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030027 lamellipodium;GO:0070062 extracellular exosome", "go_biological_process": "GO:0051896 regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0061028 establishment of endothelial barrier;GO:0032486 Rap protein signal transduction;GO:0001525 angiogenesis;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "O95398-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XR2-1", "uniprot_id": [ { "id": "NIBA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XR2", "type": "external" } ], "mass": 77413.0, "length": 697, "protein_name": "Protein Niban 3", "gene_name": "NIBAN3", "organism": "Human", "refseq_name": "protein Niban 3 isoform e", "refseq_ac": [ { "id": "NP_001308757", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308757", "type": "external" } ], "gene_names_uniprotkb": "NIBAN3; BCNP1; FAM129C", "gene_names_refseq": "BCNP1; FAM129C; NIBAN3", "protein_names_uniprotkb": "Protein Niban 3; B-cell novel protein 1; Niban-like protein 2; Protein FAM129C", "protein_names_refseq": "B-cell novel protein 1; family with sequence similarity 129 member C; niban-like protein 2; protein Niban 3 isoform e; protein Niban 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:199786)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;12886250;25418920;26375851;26811146;27680505;27920218;28832583;28904123;29508533;29557506;29632711;29786170;30524438;31530632;31844290;32488085;32502341;32897882;32983136;33298915;33691108;33912179;34561969;35051231;35580925;37217939;39531497", "class_list": "", "function": "Isolation and sequencing. Prediction of transmembrane domains, with three alternatively spliced final exons., [RefSeq, PubMed]; PI3K inhibition and p38 MAPK activation leads to reduction in phosphorylation of BCNP1 at serine residues., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 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": "B4DNU3;B4DVN7;Q7Z6H6;Q86XR3;Q86XR4;Q8TEQ3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q86XR2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUL5-1", "uniprot_id": [ { "id": "PHF23_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUL5", "type": "external" } ], "mass": 43818.0, "length": 403, "protein_name": "PHD finger protein 23", "gene_name": "PHF23", "organism": "Human", "refseq_name": "PHD finger protein 23 isoform 2", "refseq_ac": [ { "id": "NP_001271446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271446", "type": "external" } ], "gene_names_uniprotkb": "PHF23", "gene_names_refseq": "PHF23; hJUNE-1b", "protein_names_uniprotkb": "PHD finger protein 23; PDH-containing protein JUNE-1", "protein_names_refseq": "PDH-containing protein JUNE-1; PHD finger protein 23 isoform 2; PHD finger protein 23a", "tax_id": 9606, "disease": "", "pathway": " (hsa:79142)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;17287853;17525332;18452278;18669648;19651622;19690332;20068231;22544926;23186163;23481700;24715725;25418920;25484098;25576301;25645385;26154972;26375851;27846572;27862975;27920218;28446606;28832583;28904123;29242379;29508533;29557506;29632711;29786170;30315122;30429286;31092671;31844290;31937595;31998317;32157095;32161166;32357974;32387766;32502341;32620764;32938616;32983136;33141586;33298915;33936100;33968037;34019948;34211107;34405274;34509645;35051231;36010968;37626047;37938771", "class_list": "", "function": "Acts as a negative regulator of autophagy, through promoting ubiquitination and degradation of LRSAM1, an E3 ubiquitin ligase that promotes autophagy in response to starvation or infecting bacteria., [UniProtKB, PubMed]; Mechanistic insights into chromatin targeting by leukemic NUP98-PHF23 fusion. Publication Status: Online-Only, [RefSeq, PubMed]; PHF23 promotes NSCLC proliferation, metastasis, and chemoresistance via stabilization of ACTN4 and activation of the ERK pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Plant homeodomain finger protein 23 negatively regulates cell autophagy by promoting ubiquitination and degradation of E3 ligase LRSAM1, [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": 13, "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": "A1DZ74;B3KVH8;B4DLK6;D3DTN4;Q8IZK0;Q96HG7;Q9H5X0", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:1901097 negative regulation of autophagosome maturation;GO:1902902 negative regulation of autophagosome assembly;GO:0006914 autophagy;GO:0031398 positive regulation of protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9BUL5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09086-1", "uniprot_id": [ { "id": "PO2F2_HUMAN", "url": "https://www.uniprot.org/uniprot/P09086", "type": "external" } ], "mass": 51209.0, "length": 479, "protein_name": "POU domain, class 2, transcription factor 2", "gene_name": "POU2F2", "organism": "Human", "refseq_name": "POU domain, class 2, transcription factor 2 isoform 1", "refseq_ac": [ { "id": "NP_001193954", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193954", "type": "external" } ], "gene_names_uniprotkb": "POU2F2; OCT2; OTF2", "gene_names_refseq": "OCT2; OTF2; Oct-2; POU2F2", "protein_names_uniprotkb": "POU domain, class 2, transcription factor 2; Lymphoid-restricted immunoglobulin octamer-binding protein NF-A2; OTF-2; Oct-2; Octamer-binding protein 2; Octamer-binding transcription factor 2", "protein_names_refseq": "POU domain, class 2, transcription factor 2 isoform 1; POU domain, class 2, transcription factor 2; homeobox protein; lymphoid-restricted immunoglobulin octamer-binding protein NF-A2; octamer-binding protein 2; octamer-binding transcription factor 2", "tax_id": 9606, "disease": "immune system disease (Disease Ontology:DOID:2914)", "pathway": " (hsa:5452); (R-HSA-6807505); (R-HSA-9976102)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "10022900;10480874;11237011;11856838;12414730;12574128;14701755;1535687;16239144;16308568;16901896;1739980;18079403;1829677;19667075;20457598;2125285;22137580;22231121;22252320;22441827;23166507;2328728;23932780;24097444;24270878;24997600;25675981;26024233;26154972;27846572;28063628;28218747;28228285;28832583;28834231;28860189;2901913;2904653;2904654;29242379;29393594;29437277;2944599;29493099;29632046;29786170;30397120;30410026;3072196;31844290;32387766;32502341;3265124;33298915;33633747;33691108;33717175;33912179;33968037;34211107;34509645;35051231;35526483;35580925;36754897;36849510;38254723;38318853;7715707;7859290;7888080;7914745;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "Activates the U2 small nuclear RNA (snRNA) promoter., [UniProtKB, PubMed]; CBX7 represses the POU2F2 to inhibit the PD-L1 expression and regulate the immune response in bladder cancer., [RefSeq, PubMed]; OCT2 expression in histiocytoses., [RefSeq, PubMed]; POU2F2-mediated upregulation of lncRNA PTPRG-AS1 inhibits ferroptosis in breast cancer via miR-376c-3p/SLC7A11 axis., [RefSeq, PubMed]; The MYC-regulated lncRNA LNROP (ENSG00000254887) enables MYC-driven cell proliferation by controlling the expression of OCT2. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a homeobox-containing transcription factor of the POU domain family. The encoded protein binds the octamer sequence 5'-ATTTGCAT-3', a common transcription factor binding site in immunoglobulin gene promoters. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3') and activates the promoters of the genes for some small nuclear RNAs (snRNA) and of genes such as those for histone H2B and immunoglobulins. Modulates transcription transactivation by NR3C1, AR and PGR., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Transcription factor that specifically binds to the octamer motif (5'-ATTTGCAT-3') (PubMed:2904654, PubMed:7859290). Regulates IL6 expression in B cells with POU2AF1 (By similarity). Regulates transcription in a number of tissues in addition to activating immunoglobulin gene expression (PubMed:2901913, PubMed:2904654). Modulates transcription transactivation by NR3C1, AR and PGR (PubMed:10480874)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Transcriptional Coactivator BOB1 (OBF1, OCA-B) Modulates the Specificity of DNA Recognition by the POU-Domain Factors OCT1 and OCT2 in a Monomeric Configuration. 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": 1, "reported_glycation": 0, "reported_snv": 13, "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": "Q16648;Q7M4M8;Q9BRS4", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000976 transcription cis-regulatory region binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0043565 sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0032755 positive regulation of interleukin-6 production;GO:0006959 humoral immune response", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "P09086-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H300-1", "uniprot_id": [ { "id": "PARL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H300", "type": "external" } ], "mass": 42190.0, "length": 379, "protein_name": "Presenilin-associated rhomboid-like protein, mitochondrial", "gene_name": "PARL", "organism": "Human", "refseq_name": "presenilin-associated rhomboid-like protein, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001032728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032728", "type": "external" } ], "gene_names_uniprotkb": "PARL; PRO2207; PSARL", "gene_names_refseq": "PARL; PRO2207; PSARL1; PSARL; PSENIP2; RHBDS1", "protein_names_uniprotkb": "Presenilin-associated rhomboid-like protein, mitochondrial; 3.4.21.105; Mitochondrial intramembrane cleaving protease PARL", "protein_names_refseq": "mitochondrial intramembrane-cleaving protease PARL; presenilin-associated rhomboid-like protein, mitochondrial isoform 2; presenilin-associated rhomboid-like protein, mitochondrial; presenilins-associated rhomboid-like protein, mitochondrial; rhomboid 7 homolog 1", "tax_id": 9606, "disease": "myopia (Disease Ontology:DOID:11830); hyperinsulinism (Disease Ontology:DOID:2018); coronary artery disease (Disease Ontology:DOID:3393); breast carcinoma (Disease Ontology:DOID:3459); Leigh disease (Disease Ontology:DOID:3652); Leber hereditary optic neuropathy (Disease Ontology:DOID:705); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:55486); (R-HSA-8949664)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "11237011;12214059;14732705;15729572;17116872;22354088;22915595;25892735;26992070;27600516;27642048;27737933;27920218;28218747;28288130;28514659;28832583;28904123;29242379;29301859;29437277;29605689;29632046;30315122;30429286;30833945;31217245;31844290;32144986;32157095;32320686;32357974;32387766;32470650;32573439;33912179;34171305;34357683;35051231;35921890;36658222", "class_list": "", "function": "Accumulation of HAX-1 and PARL in brainstem- and cortical-type Lewy bodies in Parkinson's disease and dementia with Lewy bodies., [RefSeq, PubMed]; Cleavage of mitochondrial homeostasis regulator PGAM5 by the intramembrane protease PARL is governed by transmembrane helix dynamics and oligomeric state., [RefSeq, PubMed]; PARL Protease: A Glimpse at Intramembrane Proteolysis in the Inner Mitochondrial Membrane. Review article, [RefSeq, PubMed]; PARL might mediate a developmentally regulated mitochondria-to-nuclei signaling through regulated proteolysis of its N terminus and release of the Pbeta peptide, [RefSeq, PubMed]; Proapoptotic Mitochondrial Carrier Homolog Protein PSAP Mediates Death Receptor 6 Induced Apoptosis., [RefSeq, PubMed]; Required for the control of apoptosis during postnatal growth. Essential for proteolytic processing of an antiapoptotic form of OPA1 which prevents the release of mitochondrial cytochrome c in response to intrinsic apoptotic signals (By similarity). Required for the maturation of PINK1 into its 52kDa mature form after its cleavage by mitochondrial-processing peptidase (MPP) (PubMed:22354088). Promotes cleavage of serine/threonine-protein phosphatase PGAM5 in damaged mitochondria in response to loss of mitochondrial membrane potential (PubMed:22915595). Mediates differential cleavage of PINK1 and PGAM5 depending on the health status of mitochondria, disassociating from PINK1 and associating with PGAM5 in response to mitochondrial membrane potential loss (PubMed:22915595). Required for processing of CLPB into a form with higher protein disaggregase activity by removing an autoinhibitory N-terminal peptide (PubMed:28288130, PubMed:32573439). Promotes processing of DIABLO/SMAC in the mitochondrion which is required for DIABLO apoptotic activity (PubMed:28288130). Mediates STARD7 processing which regulates STARD7 location between mitochodria and cytosol (PubMed:28288130, PubMed:29301859, PubMed:36658222). Also required for cleavage of TTC19 (PubMed:28288130). Promotes changes in mitochondria morphology regulated by phosphorylation of P-beta domain (PubMed:14732705, PubMed:17116872)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease. [provided by RefSeq, May 2016]., [RefSeq]; Variation in PSARL sequence and/or expression may be an important new risk factor for type 2 diabetes and other components of the metabolic 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": 3, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 3, "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": "Q96CQ4;Q9BTJ6;Q9P1E3", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.4.21.105", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.105", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0004252 serine-type endopeptidase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0016485 protein processing;GO:0030162 regulation of proteolysis;GO:2000377 regulation of reactive oxygen species metabolic process;GO:0008053 mitochondrial fusion", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q9H300-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92576-1", "uniprot_id": [ { "id": "PHF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92576", "type": "external" } ], "mass": 229481.0, "length": 2039, "protein_name": "PHD finger protein 3", "gene_name": "PHF3", "organism": "Human", "refseq_name": "PHD finger protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001277188", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277188", "type": "external" } ], "gene_names_uniprotkb": "PHF3; KIAA0244", "gene_names_refseq": "PHF3", "protein_names_uniprotkb": "PHD finger protein 3", "protein_names_refseq": "PHD finger protein 3 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23469)", "pathway_count": 1, "publication_count": 121, "publication_id_list": "11237011;11856869;15302935;15345747;16964243;17081983;17525332;18212344;18220336;18452278;18669648;19413330;19415658;19651622;19664994;19664995;19690332;20058876;20068231;20112406;21406692;22096494;23186163;23301498;23324950;23481700;24129315;24275569;24715725;24961364;25418920;25576301;25645385;26154972;26375851;26811146;26929215;26992070;27114449;27600516;27846572;27869121;27920218;28063628;28218747;28228285;28411811;28649982;28832583;28834231;28860189;28904123;29242379;29351928;29393594;29508533;29557506;29632046;29632711;29786170;30192525;30315122;30379171;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31492838;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32938750;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34667177;34846842;35051231;35132862;35254053;35289036;35318648;35561310;35580925;36010968;36215666;36241641;36284347;38665916;39531497;40136647;40596516", "class_list": "", "function": "Data conclude that the PHF3-PTP4A1 region appears to harbor a causal locus for alcohol dependence, and proteins encoded by PHF3 and/or PTP4A1 might play a functional role in the disorder., [RefSeq, PubMed]; Novel member of a large class of regulatory proteins containing a LAP motif, and loss of its expression in glioblastoma may contribute to glioma development, [RefSeq, PubMed]; PHF3 regulates neuronal gene expression through the Pol II CTD reader domain SPOC. Publication Status: Online-Only, [RefSeq, PubMed]; PTP4A1-PHF3-EYS variants were associated with alcohol dependence., [RefSeq, PubMed]; This gene encodes a member of a PHD finger-containing gene family. This gene may function as a transcription factor and may be involved in glioblastomas development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]., [RefSeq]; We confirmed with our previous findings that PTP4A1-PHF3-EYS variants were significantly associated with alcohol dependence., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 20, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 20, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 20, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 30, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 65, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "A3KFI8;Q14CR5;Q5CZI1;Q5T1T6;Q9NQ16;Q9UI45", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0048188 Set1C/COMPASS complex", "go_biological_process": "GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q92576-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PD5-1", "uniprot_id": [ { "id": "PGRP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PD5", "type": "external" } ], "mass": 62217.0, "length": 576, "protein_name": "N-acetylmuramoyl-L-alanine amidase", "gene_name": "PGLYRP2", "organism": "Human", "refseq_name": "N-acetylmuramoyl-L-alanine amidase isoform 1 precursor", "refseq_ac": [ { "id": "NP_443122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443122", "type": "external" } ], "gene_names_uniprotkb": "PGLYRP2; PGLYRPL; PGRPL; PRO10102", "gene_names_refseq": "HMFT0141; PGLYRP2; PGLYRPL; PGRP-L; PGRPL; TAGL-like; tagL-alpha; tagL; tagl-beta", "protein_names_uniprotkb": "N-acetylmuramoyl-L-alanine amidase; 3.5.1.28; PGRP-L; Peptidoglycan recognition protein 2; Peptidoglycan recognition protein long", "protein_names_refseq": "N-acetylmuramoyl-L-alanine amidase isoform 1 precursor; N-acetylmuramoyl-L-alanine amidase; peptidoglycan recognition protein L; peptidoglycan recognition protein long", "tax_id": 9606, "disease": "", "pathway": " (hsa:114770); (R-HSA-6803157)", "pathway_count": 2, "publication_count": 95, "publication_id_list": "10.1038/emboj.2013.79;11120840;11237011;11313366;11389039;11461926;11971875;12493837;12669421;12754519;12975309;13816;14506276;14739326;15221005;1522221;15229136;15340161;15778384;15826377;15956276;16054449;16215847;16335952;16336202;16354652;16354654;16374474;16799473;16931762;16940129;17363965;17502600;17567961;17964057;18021746;18160480;18185531;18673279;19095652;19159218;19179970;19254208;19818633;20103720;20180804;20382864;20395631;20510021;20845358;21787330;22262861;22327069;22455996;22701042;23090970;23302724;23426625;23584533;24219363;24256734;24279413;25075772;25461571;25596890;26148048;27089320;28832583;29242379;29331515;29391424;29557506;29632711;29671580;29741879;29789417;30237853;30459171;31844290;32157095;3286634;32938616;32967043;33427621;34461924;34725484;35051231;35218888;37074911;37217939;38253038;7663175;9523110;9665269;9756476", "class_list": "", "function": "Antibody to peptidoglycan recognition protein (PGLYRP)-2 as a novel biomarker in rheumatoid arthritis., [RefSeq, PubMed]; Association of PGLYRP2 gene polymorphism and sporadic Parkinson's disease in northern Chinese Han population., [RefSeq, PubMed]; May play a scavenger role by digesting biologically active peptidoglycan (PGN) into biologically inactive fragments. Has no direct bacteriolytic activity., [UniProtKB, PubMed]; PGLYRP2 as a novel biomarker for the activity and lipid metabolism of systemic lupus erythematosus. Publication Status: Online-Only, [RefSeq, PubMed]; Serum sCD14, PGLYRP2 and FGA as potential biomarkers for multidrug-resistant tuberculosis based on data-independent acquisition and targeted proteomics., [RefSeq, PubMed]; This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. This protein hydrolyzes the link between N-acetylmuramoyl residues and L-amino acid residues in bacterial cell wall glycopeptides, and thus may play a scavenger role by digesting biologically active peptidoglycan into biologically inactive fragments. [provided by RefSeq, Sep 2011]., [RefSeq]; Various types of human blood cells were tested for expression of the Tag7/PGRP-SA and TagL/PGRP-L proteins, which belong to the family of proteins possessing the lysozyme-like peptidoglycan recognition protein (PGRP) 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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 1, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 57, "disease_count": 0, "glyco_site_count": 12, "binding_glycan_count": 0, "secondary_ac_list": "A8K050;A8K8C7;B2RMZ2;B7ZM33;Q68CK1;Q96N74;Q9UC60", "ec_number_list": [ { "id": "3.5.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.28", "type": "external" } ], "go_molecular_function": "GO:0042834 peptidoglycan binding;GO:0008745 N-acetylmuramoyl-L-alanine amidase activity;GO:0008270 zinc ion binding;GO:0016019 peptidoglycan immune receptor activity;GO:0140693 molecular condensate scaffold activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006955 immune response;GO:0045087 innate immune response;GO:0050830 defense response to Gram-positive bacterium;GO:0016045 detection of bacterium;GO:0001519 peptide amidation", "synthesized_glycan_count": 0, "hit_score": 16.5, "record_id": "Q96PD5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NDF8-1", "uniprot_id": [ { "id": "PAPD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NDF8", "type": "external" } ], "mass": 63267.0, "length": 572, "protein_name": "Terminal nucleotidyltransferase 4B", "gene_name": "TENT4B", "organism": "Human", "refseq_name": "terminal nucleotidyltransferase 4B isoform b", "refseq_ac": [ { "id": "NP_001035375", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035375", "type": "external" } ], "gene_names_uniprotkb": "TENT4B; GLD4; PAPD5; TRF4-2; TUT3", "gene_names_refseq": "PAPD5; TENT4B; TRF4-2; TUT3", "protein_names_uniprotkb": "Terminal nucleotidyltransferase 4B; 2.7.7.-; 2.7.7.19; Non-canonical poly(A) RNA polymerase PAPD5; PAP-associated domain-containing protein 5; TRF4-2; TUTase 3; Terminal guanylyltransferase; Terminal uridylyltransferase 3; Topoisomerase-related function protein 4-2", "protein_names_refseq": "PAP associated domain containing 5; PAP-associated domain-containing protein 5; TUTase 3; non-canonical poly(A) RNA polymerase PAPD5; poly(A) RNA polymerase D5, non-canonical; terminal guanylyltransferase; terminal nucleotidyltransferase 4A; terminal nucleotidyltransferase 4B isoform b; terminal uridylyltransferase 3; topoisomerase-related function protein 4-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:64282); (R-HSA-9930044)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10066793;11237011;17174896;17412707;18172165;19690332;21705430;21788334;21855801;21993680;22442037;22817747;23186163;23376078;23481700;24366607;25049417;25418920;25576301;25578728;25645385;26154972;26992070;27397612;27434818;27871484;28218747;28228285;28383716;28510447;28649982;28832583;28834231;28904123;29242379;29298432;29331515;29437277;29493099;29508533;29557506;29632711;29906447;30026317;30379171;30410026;30930056;31844290;31950173;32157095;32357974;32451488;32488085;32502341;32559291;32938616;33298915;33537174;33592498;33767452;33912179;33913806;34087483;34171305;34185709;34932366;35051231;35318648;35561310;35580925;35867748;36010968;36284347;37875486;37938771", "class_list": "", "function": "Chemical inhibition of PAPD5/7 rescues telomerase function and hematopoiesis in dyskeratosis congenita., [RefSeq, PubMed]; PAPD5 catalyzes the polyadenylation of different types of RNA substrates in vitro., [RefSeq, PubMed]; TENT4A and TENT4B produce a mixed tail that shields mRNA from rapid deadenylation., [RefSeq, PubMed]; Terminal nucleotidyltransferase that catalyzes preferentially the transfer of ATP and GTP on RNA 3' poly(A) tail creating a heterogeneous 3' poly(A) tail leading to mRNAs stabilization by protecting mRNAs from active deadenylation (PubMed:21788334, PubMed:30026317). Also functions as a catalytic subunit of a TRAMP-like complex which has a poly(A) RNA polymerase activity and is involved in a post-transcriptional quality control mechanism. Polyadenylation with short oligo(A) tails is required for the degradative activity of the exosome on several of its nuclear RNA substrates. Doesn't need a cofactor for polyadenylation activity (in vitro) (PubMed:21788334, PubMed:21855801). Required for cytoplasmic polyadenylation of mRNAs involved in carbohydrate metabolism, including the glucose transporter SLC2A1/GLUT1 (PubMed:28383716). Plays a role in replication-dependent histone mRNA degradation, probably through terminal uridylation of mature histone mRNAs. May play a role in sister chromatid cohesion (PubMed:18172165). Mediates 3' adenylation of the microRNA MIR21 followed by its 3'-to-5' trimming by the exoribonuclease PARN leading to degradation (PubMed:25049417). Mediates 3' adenylation of H/ACA box snoRNAs (small nucleolar RNAs) followed by its 3'-to-5' trimming by the exoribonuclease PARN which enhances snoRNA stability and maturation (PubMed:22442037)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The ZCCHC14/TENT4 complex is required for hepatitis A virus RNA synthesis., [RefSeq, PubMed]; Viral hijacking of the TENT4-ZCCHC14 complex protects viral RNAs via mixed tailing., [RefSeq, PubMed]; We find that mature hTR derives from extended precursors but that in PARN-mutant cells hTR maturation kinetically stalls and unprocessed precursors are degraded. Loss of poly(A)polymerase PAPD5 in PARN-mutant cells accelerates hTR maturation and restores hTR processing, indicating that oligoadenylation and deadenylation set rates of hTR 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": 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": "B4DV38;Q9NW67;Q9Y6C0", "ec_number_list": [ { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.7.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.19", "type": "external" }, { "id": "3.1.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.13.-", "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" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0070034 telomerase RNA binding;GO:0070566 adenylyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0031499 TRAMP complex", "go_biological_process": "GO:0033500 carbohydrate homeostasis;GO:0051301 cell division;GO:0032211 negative regulation of telomere maintenance via telomerase;GO:0006364 rRNA processing;GO:0071044 histone mRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q8NDF8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08174-1", "uniprot_id": [ { "id": "PCDH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08174", "type": "external" } ], "mass": 114743.0, "length": 1060, "protein_name": "Protocadherin-1", "gene_name": "PCDH1", "organism": "Human", "refseq_name": "protocadherin-1 isoform 3", "refseq_ac": [ { "id": "NP_001265542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265542", "type": "external" } ], "gene_names_uniprotkb": "PCDH1", "gene_names_refseq": "PC42; PCDH1; PCDH42", "protein_names_uniprotkb": "Protocadherin-1; Cadherin-like protein 1; PC42; Protocadherin-42", "protein_names_refseq": "cadherin-like 1; cadherin-like protein 1; protocadherin 42; protocadherin-1 isoform 3", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); cancer (Disease Ontology:DOID:162); asthma (Disease Ontology:DOID:2841); atopic dermatitis (Disease Ontology:DOID:3310); intrinsic asthma (Disease Ontology:DOID:9360)", "pathway": " (hsa:5097)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15345747;18669648;19159218;19664995;21406692;23090970;24190977;25576301;25645385;26227965;27701444;29557506;29632711;29789417;30192525;30464266;30524438;31844290;32157095;32350084;32938616;33141586;33592498;33968037;33981976;34171305;35051231;35251023;35864095;36215666;37074911;38673968;8508762", "class_list": "", "function": "Identification of the human asthma-associated gene protocadherin-1 as an essential determinant of entry and infection in pulmonary endothelial cells by two hantaviruses that cause hantavirus pulmonary syndrome, Andes virus and Sin Nombre virus; the surface glycoproteins of ANDV and SNV directly recognize the outermost extracellular repeat domain of PCDH1-a member of the cadherin superfamily--to exploit PCDH1 for entry, [RefSeq, PubMed]; Insight into the Interplay of Gd-IgA1, HMGB1, RAGE and PCDH1 in IgA Vasculitis (IgAV). Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in cell-cell interaction processes and in cell adhesion., [UniProtKB]; PCDH1 is important for airway function as a physical barrier, and its dysfunction is involved in the pathogenesis of allergic airway inflammation. Publication Status: Online-Only, [RefSeq, PubMed]; PCDH1 promotes progression of pancreatic ductal adenocarcinoma via activation of NF-kappaB signalling by interacting with KPNB1. Erratum:[Cell Death Dis. 2024 Jan 9;15(1):22. doi: 10.1038/s41419-023-06403-w. PMID: 38195622] Publication Status: Online-Only, [RefSeq, PubMed]; Results show that PCDH1 is localized to the cell membrane of bronchial epithelial cells basolateral to the adherens junction. Its expression is not reduced nor delocalized in asthma even though PCDH1 contributes to homotypic adhesion, epithelial barrier formation and repair. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the protocadherin subfamily within the cadherin superfamily. The encoded protein is a membrane protein found at cell-cell boundaries. It is involved in neural cell adhesion, suggesting a possible role in neuronal development. The protein includes an extracelllular region, containing 7 cadherin-like domains, a transmembrane region and a C-terminal cytoplasmic region. Cells expressing the protein showed cell aggregation activity. Alternative splicing occurs in this gene. [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": 4, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 9452, "biomarker_type": "", "glycan_count": 9, "disease_count": 5, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q8IUP2", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005911 cell-cell junction;GO:0030054 cell junction", "go_biological_process": "GO:0007155 cell adhesion;GO:0007267 cell-cell signaling;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q08174-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P37287-1", "uniprot_id": [ { "id": "PIGA_HUMAN", "url": "https://www.uniprot.org/uniprot/P37287", "type": "external" } ], "mass": 54127.0, "length": 484, "protein_name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit A", "gene_name": "PIGA", "organism": "Human", "refseq_name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 1", "refseq_ac": [ { "id": "NP_002632", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002632", "type": "external" } ], "gene_names_uniprotkb": "PIGA", "gene_names_refseq": "GPI3; MCAHS2; NEDEPH; PIG-A; PIGA; PNH1", "protein_names_uniprotkb": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit A; 2.4.1.198; GlcNAc-PI synthesis protein; PIG-A; Phosphatidylinositol-glycan biosynthesis class A protein", "protein_names_refseq": "GLCNAC-PI synthesis protein; GPI anchor biosynthesis; class A GlcNAc-inositol phospholipid assembly protein; phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 1; phosphatidylinositol N-acetylglucosaminyltransferase subunit A; phosphatidylinositol-glycan biosynthesis, class A protein", "tax_id": 9606, "disease": "paroxysmal nocturnal hemoglobinuria (Disease Ontology:DOID:0060284); autosomal recessive congenital ichthyosis 4B (Disease Ontology:DOID:0060713); multiple congenital anomalies-hypotonia-seizures syndrome 2 (Disease Ontology:DOID:0080139); ferro-cerebro-cutaneous syndrome (MONDO:MONDO:0018346)", "pathway": " (hsa:5277); (R-HSA-162710)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "10069808;10087994;10089216;10944123;11226175;11237011;12037021;14517336;14742432;15623507;15632136;15635094;15720390;16162815;18691976;22305531;23186163;23481700;24259184;24259288;24357517;24706016;24715725;25645385;25892735;26375851;26545172;26993267;27452731;27846572;27864847;28228285;28832583;29242379;29508533;29769354;29786170;30524438;31217245;31844290;32157095;32265295;32357974;32387766;32938616;33141586;33298915;33592498;33717175;33912179;33968037;34357683;34875027;35051231;36010968;36215666;36241641;37271276;37589195;38546397;7680492;8081230;8081362;8167330;8193350;8306954;8500164;8599356;8861954;8900170;9307258;9463366", "class_list": "glycogene;glycosyltransferase", "function": "Catalytic subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis., [UniProtKB, PubMed]; Congenital diaphragmatic hernia in siblings with PIGA-related congenital disorder of glycosylation., [RefSeq, PubMed]; PIG-A gene mutation as a mutagenicity biomarker among coke oven workers., [RefSeq, PubMed]; PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis., [RefSeq, PubMed]; This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 422, "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": "B4E0V2;Q16025;Q16250", "ec_number_list": [ { "id": "2.4.1.198", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.198", "type": "external" } ], "go_molecular_function": "GO:0008194 UDP-glycosyltransferase activity;GO:0017176 phosphatidylinositol N-acetylglucosaminyltransferase activity;GO:0016757 glycosyltransferase activity", "go_cellular_component": "GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0030867 rough endoplasmic reticulum membrane", "go_biological_process": "GO:0006506 GPI anchor biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "P37287-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010001.001.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q56VL3-1", "uniprot_id": [ { "id": "OCAD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q56VL3", "type": "external" } ], "mass": 16954.0, "length": 154, "protein_name": "OCIA domain-containing protein 2", "gene_name": "OCIAD2", "organism": "Human", "refseq_name": "OCIA domain-containing protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001014446", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014446", "type": "external" } ], "gene_names_uniprotkb": "OCIAD2", "gene_names_refseq": "OCIAD2", "protein_names_uniprotkb": "OCIA domain-containing protein 2; Ovarian carcinoma immunoreactive antigen-like protein", "protein_names_refseq": "OCIA domain-containing protein 2 isoform 1; OCIA domain-containing protein 2; ovarian cancer immunoreactive antigen domain containing 2; ovarian carcinoma immunoreactive antigen-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:132299)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;19608861;22726067;24270855;24949437;25418920;25576301;26929215;26992070;28063628;28218747;28514659;28832583;28904123;29242379;29393594;29437277;29557506;29632046;29743632;30315122;30779550;31844290;32265295;32387766;33298915;33968037;34171305;34628698;35051231;35080992;35920378;38944166", "class_list": "", "function": "Aberrant OCIAD2 demethylation in lung adenocarcinoma is associated with outcome., [RefSeq, PubMed]; Has an essential role in the assembly of mitochondrial respiratory chain complex III (PubMed:35080992). Is also required for STAT3 activation and plays a role in cell migration (PubMed:29743632)., [UniProtKB, PubMed, PubMed]; It well explained the mechanism of TGFbeta induced OCIAD2 expression in cancer microenvironment, therefore providing an important clue for the future functional analysis of OCIAD2 in tumor pathogenesis., [RefSeq, PubMed]; Like OCIAD1, OCIAD2 is a cancer-related protein and its expression level increases during the course of malignant progression and is thought to be a very useful marker for evaluating the malignancy of ovarian mucinous tumors., [RefSeq, PubMed]; OCIAD2 also increased the interaction of nicastrin with C99 and stimulated APP processing via gamma-secretase activation, but did not affect Notch processing, [RefSeq, PubMed]; OCIAD2 promotes pancreatic cancer progression through the AKT signaling pathway., [RefSeq, PubMed]; Ovarian carcinoma immunoreactive antigen domain 2 controls mitochondrial apoptosis in lung adenocarcinoma., [RefSeq, PubMed]; Ovarian carcinoma immunoreactive antigen-like protein 2 (OCIAD2) is a novel complex III-specific assembly factor in mitochondria., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B4DPE7;Q8N544", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005764 lysosome", "go_biological_process": "GO:0006897 endocytosis;GO:0016477 cell migration;GO:0046427 positive regulation of receptor signaling pathway via JAK-STAT;GO:0034551 mitochondrial respiratory chain complex III assembly;GO:0061484 hematopoietic stem cell homeostasis", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q56VL3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14511-1", "uniprot_id": [ { "id": "NRG2_HUMAN", "url": "https://www.uniprot.org/uniprot/O14511", "type": "external" } ], "mass": 91679.0, "length": 850, "protein_name": "Pro-neuregulin-2, membrane-bound isoform", "gene_name": "NRG2", "organism": "Human", "refseq_name": "pro-neuregulin-2, membrane-bound isoform isoform 7", "refseq_ac": [ { "id": "NP_001171864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171864", "type": "external" } ], "gene_names_uniprotkb": "NRG2; NTAK", "gene_names_refseq": "DON1; HRG2; NRG2; NTAK", "protein_names_uniprotkb": "Pro-neuregulin-2, membrane-bound isoform; DON-1; Divergent of neuregulin-1; NTAK; Neural- and thymus-derived activator for ERBB kinases; Pro-NRG2", "protein_names_refseq": "divergent of neuregulin-1; neural- and thymus-derived activator for ErbB kinases; pro-NRG2; pro-neuregulin-2, membrane-bound isoform isoform 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:9542); (R-HSA-1227986); (R-HSA-1236394); (R-HSA-1250196); (R-HSA-1250342); (R-HSA-1250347); (R-HSA-1251985); (R-HSA-1257604); (R-HSA-1306955); (R-HSA-1358803); (R-HSA-1963640); (R-HSA-1963642); (R-HSA-2219530); (R-HSA-5673001); (R-HSA-6785631); (R-HSA-6811558); (R-HSA-8847993); (R-HSA-8863795); (R-HSA-9664565); (R-HSA-9665686)", "pathway_count": 20, "publication_count": 223, "publication_id_list": "10.1038/emboj.2013.79;10191262;10369162;10508167;10722704;10867024;10869344;10878805;11027663;11071886;11090077;11136978;11147812;11237011;11313946;11432829;11546808;11679632;11702783;11803464;12032311;12052829;12094235;12121613;12167717;12239347;12411582;12651161;12767043;12807903;1325671;14506247;14660651;14707138;15023535;15059917;15156151;15356145;1545823;15534001;15546878;15568014;15643424;15718470;15834429;15961242;16061658;16339315;16456541;16627759;16647110;16684964;16843263;1688559;16912174;16978839;17018285;17030621;1706616;1716764;17200115;17210635;17311002;17545517;17626883;17652160;17998941;18039657;18045866;18079394;18317450;18413839;18594509;18606717;18653779;18719096;18721752;18754654;18755892;18775330;18829560;18925875;18955552;1898771;19047365;19185485;19279408;19411071;19576174;19596786;19644473;1973074;19805105;19920141;19933325;19962665;2022652;20231295;20338997;20478380;20522708;20713702;20937854;21102635;21188471;21317208;21368164;21372320;21376233;21478295;21668414;21779497;21779505;21827948;21840311;21976531;21984976;21993244;22046346;22120714;22188813;22569528;22588880;22589270;22645359;22750304;22802530;23103841;23220880;23230144;23303910;23443682;23481700;23575685;23584533;23843458;23846654;23948973;24308844;24829397;24897931;24937142;24971884;25081058;25219551;2543678;25781681;25853726;25994018;26085527;26154972;26375550;26545934;27846572;28274957;28778966;29242379;29508533;29557506;29967253;30301790;30314968;30449325;30854046;31135801;31217245;31844290;32157095;32488085;33141586;33298915;33633747;33912179;33968037;34211107;34996744;35051231;36010968;36411648;38791584;6148751;7478576;7541030;7542744;7556068;7565730;7637810;7744773;7809086;7929212;7929214;7935463;7970720;7972015;8026468;8036006;8052307;8101647;8394845;8493579;8530511;8617201;8617750;8622888;8645157;8657148;8665852;8665853;8710374;8939933;9135143;9168115;9199335;9232641;9275162;9348101;9461599;9516479;9556621;9604935;9736715;9895304;9927426", "class_list": "", "function": "Direct ligand for ERBB3 and ERBB4 tyrosine kinase receptors. Concomitantly recruits ERBB1 and ERBB2 coreceptors, resulting in ligand-stimulated tyrosine phosphorylation and activation of the ERBB receptors. May also promote the heterodimerization with the EGF receptor., [UniProtKB]; NRG1 and NRG2 fusion positive solid tumor malignancies: a paradigm of ligand-fusion oncogenesis. Review article, [RefSeq, PubMed]; Neuregulin 2 Is a Candidate Gene for Autism Spectrum Disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Nrg-2-induced Acetylcholine Receptor transcription requires an N-box motif and is regulated by alternative splicing., [RefSeq, PubMed]; The relevance of EGFR, ErbB receptors and neuregulins in human adipocytes and adipose tissue in obesity., [RefSeq, PubMed]; This gene encodes a novel member of the neuregulin family of growth and differentiation factors. Through interaction with the ERBB family of receptors, this protein induces the growth and differentiation of epithelial, neuronal, glial, and other types of cells. The gene consists of 12 exons and the genomic structure is similar to that of neuregulin 1, another member of the neuregulin family of ligands. The products of these genes mediate distinct biological processes by acting at different sites in tissues and eliciting different biological responses in cells. This gene is located close to the region for demyelinating Charcot-Marie-Tooth disease locus, but is not responsible for this disease. Alternative transcript variants encoding distinct isoforms have been described. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007399 nervous system development;GO:0035556 intracellular signal transduction;GO:0048513 animal organ development;GO:0038130 ERBB4 signaling pathway", "synthesized_glycan_count": 0, "hit_score": 22.8, "record_id": "O14511-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13342-1", "uniprot_id": [ { "id": "SP140_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13342", "type": "external" } ], "mass": 98223.0, "length": 867, "protein_name": "Nuclear body protein SP140", "gene_name": "SP140", "organism": "Human", "refseq_name": "nuclear body protein SP140 isoform 2", "refseq_ac": [ { "id": "NP_001005176", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005176", "type": "external" } ], "gene_names_uniprotkb": "SP140; LYSP100", "gene_names_refseq": "LYSP100-A; LYSP100-B; LYSP100; SP140", "protein_names_uniprotkb": "Nuclear body protein SP140; LYSp100; Lymphoid-restricted homolog of Sp100; Nuclear autoantigen Sp-140; Speckled 140 kDa", "protein_names_refseq": "lymphoid-restricted homolog of Sp100; lymphoid-specific SP100 homolog; nuclear autoantigen Sp-140; nuclear body protein SP140 isoform 2; speckled 140 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:11262)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "11237011;12368356;21872626;21993680;22706990;23481700;24267382;24366607;24714562;25593309;25892735;26154972;26375851;26728094;26992070;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30410026;31844290;32265295;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33691108;33717175;33912179;33936100;33968037;34211107;35051231;35154160;35561310;35580925;35952671;36130593;36284347;36581221;36600652;39162523;8695863;8910577", "class_list": "", "function": "Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body (PubMed:8910577). May be involved in the pathogenesis of acute promyelocytic leukemia and viral infection (PubMed:8910577). May play a role in chromatin-mediated regulation of gene expression although it does not bind to histone H3 tails (PubMed:24267382)., [UniProtKB, PubMed, PubMed]; Epigenetic reader SP140 loss of function drives Crohn's disease due to uncontrolled macrophage topoisomerases., [RefSeq, PubMed]; Immune chromatin reader SP140 regulates microbiota and risk for inflammatory bowel disease., [RefSeq, PubMed]; SP140 inhibits STAT1 signaling, induces IFN-gamma in tumor-associated macrophages, and is a predictive biomarker of immunotherapy response., [RefSeq, PubMed]; The nuclear body protein Sp140, was found specifically in all NP cells (n = 12 cell lines tested; P < or = 0.001), and HIV-1 infection induced its partial dispersal from nuclear bodies into cytosolic colocalization with Vif, [RefSeq, PubMed]; This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a plant homeobox zinc finger, and a bromodomain. The encoded protein is interferon-inducible and is expressed at high levels in the nuclei of leukocytes. Variants of this gene have been associated with multiple sclerosis, Crohn's disease, and chronic lymphocytic leukemia. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]., [RefSeq]; Transcriptional regulators SP110 and SP140 modulate inflammatory response genes in Mycobacterium tuberculosis-infected human macrophages., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "E7ESH9;E7EUR5;E9PFJ6;Q0VGE5;Q13341;Q3KR17;Q4ZG66;Q53TG1;Q6NSG4;Q92881;Q96TG3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0016605 PML body", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0006952 defense response", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q13342-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13796-1", "uniprot_id": [ { "id": "PLSL_HUMAN", "url": "https://www.uniprot.org/uniprot/P13796", "type": "external" } ], "mass": 70288.0, "length": 627, "protein_name": "Plastin-2", "gene_name": "LCP1", "organism": "Human", "refseq_name": "plastin-2", "refseq_ac": [ { "id": "NP_002289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002289", "type": "external" } ], "gene_names_uniprotkb": "LCP1; PLS2", "gene_names_refseq": "CP64; HEL-S-37; L-PLASTIN; LC64P; LCP1; PLS2", "protein_names_uniprotkb": "Plastin-2; L-plastin; LC64P; LCP-1; Lymphocyte cytosolic protein 1", "protein_names_refseq": "L-plastin (Lymphocyte cytosolic protein 1) (LCP-1) (LC64P); LCP-1; Lymphocyte cytosolic protein-1 (plasmin); bA139H14.1 (lymphocyte cytosolic protein 1 (L-plastin)); epididymis secretory protein Li 37; plastin-2", "tax_id": 9606, "disease": "nicotine dependence (Disease Ontology:DOID:0050742); Huntington's disease (Disease Ontology:DOID:12858)", "pathway": " (hsa:3936); (R-HSA-8950505)", "pathway_count": 2, "publication_count": 153, "publication_id_list": "10446213;10469447;11237011;14654843;15592455;16038020;16636079;17294403;17377532;18083107;19367720;19608861;19651622;19690332;19799649;20058876;20068231;20166139;20169155;20230923;2111166;21209280;21406692;21872626;21993680;22299025;2252891;22544926;22581862;22645359;23001012;23186163;23481700;2378651;24236012;24275569;24366607;24438191;24714562;24715725;25418920;25502872;25505266;25576301;25880248;25892735;26024233;26154972;26375851;26631483;26992070;27397612;27452731;27551545;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28467828;28493397;28514659;28832583;28834231;28855257;28871256;28904123;29242379;29314611;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29774024;29786170;29789417;29882856;30244178;30248139;30315122;30410026;30429286;30573663;31020640;31154438;31217245;31501427;31530632;31844290;31848261;31937595;31998317;3211125;32157095;32162841;32350084;32357974;32387766;32488085;32502341;3261603;32859369;32870666;32897882;32938616;32983136;32986657;33043033;33091337;33123756;33141586;33298915;33392160;33592498;33618712;33633747;33691108;33717175;33912179;33936100;33968037;34078123;34171305;34211107;34357683;34433824;34509645;34932366;35051231;35132862;35154160;35251023;35318648;35561310;35578065;35580925;35995384;36010968;36215666;36284347;36581221;37938771;40914422;7672826;8428952;9689080", "class_list": "", "function": "Actin-binding protein (PubMed:16636079, PubMed:17294403, PubMed:28493397). Plays a role in the activation of T-cells in response to costimulation through TCR/CD3 and CD2 or CD28 (PubMed:17294403). Modulates the cell surface expression of IL2RA/CD25 and CD69 (PubMed:17294403)., [UniProtKB, PubMed, PubMed, PubMed]; LCP1 is a prognostic biomarker correlated with immune infiltrates in gastric cancer., [RefSeq, PubMed]; LPL oxidation diminishes its actin-bundling capacity. Publication Status: Online-Only, [RefSeq, PubMed]; Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). However, L-plastin has been found in many types of malignant human cells of non-hemopoietic origin suggesting that its expression is induced accompanying tumorigenesis in solid tissues. [provided by RefSeq, Jul 2008]., [RefSeq]; Targeted proteomics using parallel reaction monitoring confirms salivary proteins indicative of metastatic triple-negative breast cancer., [RefSeq, PubMed]; The actin-bundling protein L-plastin-A double-edged sword: Beneficial for the immune response, maleficent in cancer., [RefSeq, PubMed]; Transcriptome Profiling Analysis Identifies LCP1 as a Contributor for Chidamide Resistance in Gastric Cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 2, "reported_glycation": 0, "reported_snv": 26, "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": "B2R613;B4DUA0;Q5TBN4", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0005178 integrin binding;GO:0042802 identical protein binding;GO:0051015 actin filament binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0001891 phagocytic cup;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005884 actin filament", "go_biological_process": "GO:0016477 cell migration;GO:0051017 actin filament bundle assembly;GO:0030866 cortical actin cytoskeleton organization;GO:0031100 animal organ regeneration;GO:0051639 actin filament network formation", "synthesized_glycan_count": 0, "hit_score": 16.3, "record_id": "P13796-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXG6-1", "uniprot_id": [ { "id": "P4HTM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXG6", "type": "external" } ], "mass": 56661.0, "length": 502, "protein_name": "Transmembrane prolyl 4-hydroxylase", "gene_name": "P4HTM", "organism": "Human", "refseq_name": "transmembrane prolyl 4-hydroxylase isoform c", "refseq_ac": [ { "id": "NP_808807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808807", "type": "external" } ], "gene_names_uniprotkb": "P4HTM; PH4", "gene_names_refseq": "EGLN4; HIDEA; HIFPH4; P4H-TM; P4HTM; PH-4; PH4; PHD4", "protein_names_uniprotkb": "Transmembrane prolyl 4-hydroxylase; 1.14.11.29; HIF-PH4; HIF-prolyl hydroxylase 4; HPH-4; Hypoxia-inducible factor prolyl hydroxylase 4; P4H-TM", "protein_names_refseq": "HIF-PH4; HIF-prolyl hydroxylase 4; HPH-4; P4H with transmembrane domain; Prolyl hydroxlase domain-containing 4; hypoxia-inducible factor prolyl 4-hydroxylase; hypoxia-inducible factor prolyl hydroxylase 4; proline 4-hydroxylase; prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum); transmembrane prolyl 4-hydroxylase isoform c; transmembrane prolyl 4-hydroxylase", "tax_id": 9606, "disease": "hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (MONDO:MONDO:0032780)", "pathway": " (hsa:54681)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;12163023;12788921;15456751;16154531;17726031;22645359;23090970;23481700;23584533;24190977;25813380;25880248;26992070;27840318;28218747;28228285;28832583;29242379;29437277;29493099;29557506;29786170;30315122;30459171;30940925;31154438;31530632;31844290;31848261;32161166;32897882;32965080;33334883;33592498;33633747;33912179;33968037;34561969;35051231;35580925;36284347;37074911;37083980;38441145;38665916;39894887", "class_list": "", "function": "A pathogenic P4HTM gene variant in two brothers with autism spectrum disorder., [RefSeq, PubMed]; Biallelic Mutations in P4HTM Cause Syndromic Obesity., [RefSeq, PubMed]; Catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates HIF1A at 'Pro-402' and 'Pro-564'. May function as a cellular oxygen sensor and, under normoxic conditions, may target HIF through the hydroxylation for proteasomal degradation via the von Hippel-Lindau ubiquitination complex., [UniProtKB, PubMed]; Crystal structure of the peptide-substrate-binding domain, [RefSeq, PubMed]; Data suggest that PH-4 is a novel hypoxia-inducible factor-prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia., [RefSeq, PubMed]; Further delineation of HIDEA syndrome., [RefSeq, PubMed]; Structure of transmembrane prolyl 4-hydroxylase reveals unique organization of EF and dioxygenase domains., [RefSeq, PubMed]; The longest and shortest isoenzymes have major transcripts encoding inactive polypeptides, which suggest novel regulation by alternative splicing., [RefSeq, PubMed]; The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; The results suggest that SESN2 increases degradation of HIF-1A via AMPK-PHD regulation that contributes to inhibition of in vitro and in vivo tumorigenesis., [RefSeq, PubMed]; This review summarizes recent progress in elucidating the molecular mechanisms of hypoxia-inducible factor (HIF)-1 activation, focusing on the role of oxygen-dependent asparaginyl hydroxylase in hypoxia signal transduction. Review article, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 4, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 1, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q6PAG6;Q8TCJ9;Q8WV55;Q96F22;Q9BW77", "ec_number_list": [ { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" }, { "id": "1.14.11.29", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.29", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0005509 calcium ion binding;GO:0031418 L-ascorbic acid binding;GO:0016706 2-oxoglutarate-dependent dioxygenase activity;GO:0004656 procollagen-proline 4-dioxygenase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0045646 regulation of erythrocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q9NXG6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZP1-1", "uniprot_id": [ { "id": "NRSN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZP1", "type": "external" } ], "mass": 21983.0, "length": 204, "protein_name": "Neurensin-2", "gene_name": "NRSN2", "organism": "Human", "refseq_name": "neurensin-2 isoform 2", "refseq_ac": [ { "id": "NP_001310608", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001310608", "type": "external" } ], "gene_names_uniprotkb": "NRSN2; C20orf98", "gene_names_refseq": "C20orf98; NRSN2; dJ1103G7.6", "protein_names_uniprotkb": "Neurensin-2", "protein_names_refseq": "neurensin-2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:80023)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11230166;11237011;19824122;24019301;27908706;35662041;37365792;38457049", "class_list": "", "function": "E2F1-activated NRSN2 promotes esophageal squamous cell carcinoma progression through AKT/mTOR pathway., [RefSeq, PubMed]; LncRNA LUESCC promotes esophageal squamous cell carcinoma by targeting the miR-6785-5p/NRSN2 axis. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in maintenance and/or transport of vesicles., [UniProtKB]; MiR-488-3p Represses Malignant Behaviors and Facilitates Autophagy of Osteosarcoma Cells by Targeting Neurensin-2., [RefSeq, PubMed]; NRSN2 could be a tumor suppressor gene for hepatocellular carcinoma and a candidate biomarker for long-term survival in HCC, [RefSeq, PubMed]; NRSN2 could promote ovarian cancer cell proliferation, invasion and chemoresistance in ovarian adenocarcinoma., [RefSeq, PubMed]; SOX12 and NRSN2 were identified as candidate genes that may be involved in the developmental defects in 20p13 microdeletion., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A8K3B2;Q6FII5;Q9NUD3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043025 neuronal cell body;GO:0043005 neuron projection;GO:0030133 transport vesicle", "go_biological_process": "GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9GZP1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWR1-1", "uniprot_id": [ { "id": "TRI59_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWR1", "type": "external" } ], "mass": 47114.0, "length": 403, "protein_name": "Tripartite motif-containing protein 59", "gene_name": "TRIM59", "organism": "Human", "refseq_name": "tripartite motif-containing protein 59", "refseq_ac": [ { "id": "NP_775107", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775107", "type": "external" } ], "gene_names_uniprotkb": "TRIM59; RNF104; TRIM57; TSBF1", "gene_names_refseq": "IFT80L; MRF1; RNF104; TRIM57; TRIM59; TSBF1", "protein_names_uniprotkb": "Tripartite motif-containing protein 59; 2.3.2.27; RING finger protein 104; Tumor suppressor TSBF-1", "protein_names_refseq": "RING finger protein 104; tripartite motif-containing 57; tripartite motif-containing protein 59; tumor suppressor TSBF-1; tumor suppressor TSBF1", "tax_id": 9606, "disease": "", "pathway": " (hsa:286827)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "11237011;12095697;18601909;22588174;25046164;25576301;26599082;26992070;28514659;28832583;29242379;29493099;29557506;29632046;29786170;30231667;30429286;31154438;31488827;31844290;31848261;32357974;32387766;32983136;33141586;33298915;33392160;33633747;33912179;33968037;34211107;34357683;34509645;35051231;36010968;36544044;37740007;37978515;38291200;38908195;39894887;39990658", "class_list": "", "function": "A role of TRIM59 in pulmonary hypertension: modulating the protein ubiquitylation modification. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin ligase involved in different processes such as development and immune response (PubMed:22588174, PubMed:30231667). Serves as a negative regulator for innate immune signaling pathways by suppressing RLR-induced activation of IRF3/7 and NF-kappa-B via interaction with adapter ECSIT (PubMed:22588174). Regulates autophagy through modulating both the transcription and the ubiquitination of BECN1 (PubMed:30231667). On the one hand, regulates the transcription of BECN1 through negatively modulating the NF-kappa-B pathway. On the other hand, regulates TRAF6-mediated 'Lys-63'-linked ubiquitination of BECN1, thus affecting the formation of the BECN1-PIK3C3 complex. In addition, mediates 'Lys-48'-linked ubiquitination of TRAF6 and thereby promotes TRAF6 proteasomal degradation (PubMed:30231667). Also acts as a critical regulator for early embryo development from blastocyst stage to gastrula through modulating F-actin assembly and WASH1 'Lys-63'-linked ubiquitination (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; E3 ubiquitin ligase involved in different processes such as development and immune response. Serves as a negative regulator for innate immune signaling pathways by suppressing RLR-induced activation of IRF3/7 and NF-kappa-B via interaction with adapter ECSIT. Regulates autophagy through modulating both the transcription and the ubiquitination of BECN1. On the one hand, regulates the transcription of BECN1 through negatively modulating the NF-kappa-B pathway. On the other hand, regulates TRAF6-mediated 'Lys-63'-linked ubiquitination of BECN1, thus affecting the formation of the BECN1-PIK3C3 complex. In addition, mediates 'Lys-48'-linked ubiquitination of TRAF6 and thereby promotes TRAF6 proteasomal degradation. Also acts as a critical regulator for early embryo development from blastocyst stage to gastrula through modulating F-actin assembly and WASH1 'Lys-63'-linked ubiquitination., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; PMID:12095697 pertains to mouse Mrf1 gene which appears to be the homolog of human TSBF1., [RefSeq, PubMed]; Role of TRIM59 in regulating PPM1A in the pathogenesis of silicosis and the intervention effect of tanshinone IIA., [RefSeq, PubMed]; SLC35F2-SYVN1-TRIM59 axis critically regulates ferroptosis of pancreatic cancer cells by inhibiting endogenous p53., [RefSeq, PubMed]; TRIM59 interacts with P53, promoting its ubiquitination and degradation, and TRIM59 might promote gastric carcinogenesis via this mechanism., [RefSeq, PubMed]; TRIM59 is suppressed by androgen receptor and acts to promote lineage plasticity and treatment-induced neuroendocrine differentiation in prostate cancer., [RefSeq, PubMed]; TRIM59 suppresses the brain ischaemia/reperfusion injury and pyroptosis of microglial through mediating the ubiquitination of NLRP3. Publication Status: Online-Only, [RefSeq, PubMed]; These findings indicate that TRIM59 may serve as a multifunctional regulator for innate immune signaling pathways., [RefSeq, PubMed]; We knocked down TRIM59 and found that p53 protein expression levels did not upregulate, so we proposed that TRIM59 may promote NSCLC cell growth through other pathways but not the p53 signaling pathway Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5G9;D3DNL9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0045087 innate immune response;GO:0043124 negative regulation of canonical NF-kappaB signal transduction;GO:0016567 protein ubiquitination;GO:0046597 host-mediated suppression of symbiont invasion", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q8IWR1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZVX9-1", "uniprot_id": [ { "id": "PAQR9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZVX9", "type": "external" } ], "mass": 42692.0, "length": 377, "protein_name": "Membrane progestin receptor epsilon", "gene_name": "PAQR9", "organism": "Human", "refseq_name": "membrane progestin receptor epsilon isoform 1", "refseq_ac": [ { "id": "NP_940906", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940906", "type": "external" } ], "gene_names_uniprotkb": "PAQR9", "gene_names_refseq": "BLNC1; PAQR9", "protein_names_uniprotkb": "Membrane progestin receptor epsilon; Membrane progesterone P4 receptor epsilon; Membrane progesterone receptor epsilon; Progesterone and adipoQ receptor family member 9; Progestin and adipoQ receptor family member 9; Progestin and adipoQ receptor family member IX; mPR epsilon", "protein_names_refseq": "brown fat long noncoding RNA; mPR epsilon; membrane progesterone P4 receptor epsilon; membrane progesterone receptor epsilon; membrane progestin receptor epsilon isoform 1; membrane progestin receptor epsilon; progesterone and adipoQ receptor family member 9; progestin and adipoQ receptor family member IX", "tax_id": 9606, "disease": "", "pathway": " (hsa:344838)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;16044242;18603275;23161870;23763432;29557506;30410026;31844290;31904842;34474167;35051231", "class_list": "", "function": "PAQR9 is a previously uncharacterized PAQR which is also capable of responding to progesterone., [RefSeq, PubMed]; PAQR9 regulates hepatic ketogenesis and fatty acid oxidation during fasting by modulating protein stability of PPARalpha., [RefSeq, PubMed]; Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23161870, PubMed:23763432). Seems to act through a G(s) mediated pathway (PubMed:23161870). May be involved in regulating rapid P4 signaling in the nervous system (PubMed:23763432). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23161870)., [UniProtKB, PubMed, PubMed]; The polyubiquitination of MLPs is enhanced by PAQR9 PAQR9 binds to the DUF3538 domain within the proline-rich stretch of BAG6. PAQR9 reduces the binding of MLPs to BAG6 in a DUF3538 domain-dependent manner. Taken together, our results indicate that PAQR9 plays a role in the regulation of protein quality control of MLPs via affecting the interaction of BAG6 with membrane proteins., [RefSeq, PubMed]; The results suggest that PAQR6 and PAQR9 (mPRdelta and mPRepsilon) function as mPRs coupled to G proteins and are potential intermediaries of nonclassical antiapoptotic actions of neurosteroids in the central nervous 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q147T6", "ec_number_list": [], "go_molecular_function": "GO:0005496 steroid binding;GO:0038023 signaling receptor activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6ZVX9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P54368-1", "uniprot_id": [ { "id": "OAZ1_HUMAN", "url": "https://www.uniprot.org/uniprot/P54368", "type": "external" } ], "mass": 25406.0, "length": 228, "protein_name": "Ornithine decarboxylase antizyme 1", "gene_name": "OAZ1", "organism": "Human", "refseq_name": "ornithine decarboxylase antizyme 1 isoform 1", "refseq_ac": [ { "id": "NP_004143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004143", "type": "external" } ], "gene_names_uniprotkb": "OAZ1; OAZ", "gene_names_refseq": "AZ1; AZI; OAZ1; OAZ", "protein_names_uniprotkb": "Ornithine decarboxylase antizyme 1; AZ1; ODC-Az", "protein_names_refseq": "ODC-Az; antizyme 1; ornithine decarboxylase antizyme 1 isoform 1", "tax_id": 9606, "disease": "brain ischemia (Disease Ontology:DOID:2316); coronary restenosis (Disease Ontology:DOID:4247)", "pathway": " (hsa:4946); (R-HSA-350562); (R-HSA-351202)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10623504;11237011;11583147;12097147;12359729;12660156;15749015;17407445;17585781;17900240;18367445;18446792;2069720;24714562;24715725;25418920;25469497;25576301;25892735;26154972;26305948;26443277;26728094;26929215;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28446606;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29769354;29786170;30312582;30315122;30429286;31154438;31844290;31848261;32161166;32181810;32265295;32387766;32488085;32897882;32938616;32983136;33592498;33691108;33717175;33936100;34171305;34561969;35051231;35318648;35580925;36284347;36581221;37325974;39894887;7546290;7811704;7813017;9132164;9426243", "class_list": "", "function": "Antizyme expression requires programmed, ribosomal frameshifting, [RefSeq, PubMed]; EPLIN-beta is a novel substrate of ornithine decarboxylase antizyme 1 and mediates cellular migration., [RefSeq, PubMed]; Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity and intracellular polyamine biosynthesis and uptake in response to increased intracellular polyamine levels. Binds to ODC monomers, inhibiting the assembly of the functional ODC homodimer, and targets the monomers for ubiquitin-independent proteolytic destruction by the 26S proteasome (PubMed:17900240, PubMed:26305948, PubMed:26443277). Triggers ODC degradation by inducing the exposure of a cryptic proteasome-interacting surface of ODC (PubMed:26305948). Stabilizes AZIN2 by interfering with its ubiquitination (PubMed:17900240). Also inhibits cellular uptake of polyamines by inactivating the polyamine uptake transporter. SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. Involved in the translocation of AZIN2 from ER-Golgi intermediate compartment (ERGIC) to the cytosol (PubMed:12097147)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene belongs to the ornithine decarboxylase antizyme family, which plays a role in cell growth and proliferation by regulating intracellular polyamine levels. Expression of antizymes requires +1 ribosomal frameshifting, which is enhanced by high levels of polyamines. Antizymes in turn bind to and inhibit ornithine decarboxylase (ODC), the key enzyme in polyamine biosynthesis; thus, completing the auto-regulatory circuit. This gene encodes antizyme 1, the first member of the antizyme family, that has broad tissue distribution, and negatively regulates intracellular polyamine levels by binding to and targeting ODC for degradation, as well as inhibiting polyamine uptake. Antizyme 1 mRNA contains two potential in-frame AUGs; and studies in rat suggest that alternative use of the two translation initiation sites results in N-terminally distinct protein isoforms with different subcellular localization. Alternatively spliced transcript variants have also been noted for this gene. [provided by RefSeq, Dec 2014]., [RefSeq]; Translation efficiency affects the sequence-independent +1 ribosomal frameshifting by polyamines., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O43382;Q14989;Q92595;Q9UPL9", "ec_number_list": [], "go_molecular_function": "GO:0008073 ornithine decarboxylase inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:1902268 negative regulation of polyamine transmembrane transport;GO:0090316 positive regulation of intracellular protein transport;GO:0045732 positive regulation of protein catabolic process;GO:0006596 polyamine biosynthetic process;GO:0075523 viral translational frameshifting", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "P54368-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5UE93-1", "uniprot_id": [ { "id": "PI3R6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5UE93", "type": "external" } ], "mass": 84258.0, "length": 754, "protein_name": "Phosphoinositide 3-kinase regulatory subunit 6", "gene_name": "PIK3R6", "organism": "Human", "refseq_name": "phosphoinositide 3-kinase regulatory subunit 6 isoform 1", "refseq_ac": [ { "id": "NP_001010855", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010855", "type": "external" } ], "gene_names_uniprotkb": "PIK3R6; C17orf38", "gene_names_refseq": "C17orf38; HsT41028; PIK3R6; p84 PIKAP; p87(PIKAP); p87PIKAP", "protein_names_uniprotkb": "Phosphoinositide 3-kinase regulatory subunit 6; Phosphoinositide 3-kinase gamma adapter protein of 87 kDa; p84 PI3K adapter protein; p84 PIKAP; p87 PI3K adapter protein; p87PIKAP", "protein_names_refseq": "PI3Kgamma adapter protein of 87 kDa; p84 PI3K adapter protein; p87 phosphoinositide 3-kinase gamma (PI3Kg) adapter protein; phosphoinositide 3-kinase regulatory subunit 6 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:146850); (R-HSA-114604); (R-HSA-1257604); (R-HSA-1660499); (R-HSA-2219530); (R-HSA-389357); (R-HSA-392451); (R-HSA-6811558); (R-HSA-9927354)", "pathway_count": 9, "publication_count": 195, "publication_id_list": "10026222;10191262;10194451;10224048;10469124;10555148;10559940;10593988;10753883;10805725;10822173;11001876;11084340;11147812;11237011;11262396;11279162;11302699;11349134;11481033;11604140;11676921;11733541;11803464;11877430;11923287;12101241;12118066;12138205;12167717;12324459;12422219;12507995;12536145;12538664;12646134;12660731;12670391;12767043;12808147;12813055;12832405;12847086;1325671;14516276;14617813;14660569;15007255;15080793;15107860;15135396;15464023;15708849;15716355;15718470;15797027;15834429;15840652;15870016;16154996;16174766;16339315;16399794;16456541;16476736;16522682;16647110;16914545;16938345;16979564;17008356;17200115;17245604;17616532;17626883;17651088;18079394;18093523;18317450;18439422;18589439;18594509;18606717;1874735;18753295;18754654;18755892;18829560;18925875;18955485;19038970;19185485;19409513;19411071;19576174;19644473;19700402;19805105;19850008;19896968;19962665;20231295;20338997;20522708;20534812;20713702;21188471;21204784;21317208;21368164;21393242;21478295;21668414;21827948;21976531;21984976;22037487;22120714;22188813;22267732;22544926;22588880;22647598;22802530;23519112;23758345;24715725;25495341;25576301;25753393;25880248;26154972;27846572;2841328;28736554;28904123;29493099;30429286;31844290;32265295;32350084;32357974;32387766;32502341;32897882;32983136;33141586;33155192;33298915;33717175;33912179;33936100;34211107;34509645;34932366;35051231;35580925;37708538;37938771;38831518;7608176;7624799;7637810;7744773;8246984;8617742;8621607;8645157;8657148;8673706;8681945;8723348;8769125;8986718;8990121;9028946;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9438848;9514948;9516481;9524259;9593664;9660759;9660833;9736715;9768361;9811831;9830063;9895304", "class_list": "", "function": "Knockdown of PIK3R6 impedes the onset and advancement of clear cell renal cell carcinoma., [RefSeq, PubMed]; Our findings suggest that p84 binding to p110gamma may represent a novel negative feedback signal that terminates PI3Kgamma activity., [RefSeq, PubMed]; PIK3R6 Promotes Angiogenesis in Hepatocellular carcinoma by Activating STAT3 Signaling Pathway., [RefSeq, PubMed]; Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 7. The orthologous protein in the mouse binds to both the catalytic subunit and to G(beta/gamma), and mediates activation of the kinase subunit downstream of G protein-coupled receptors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]., [RefSeq]; RBBP6 aggravates the progression of ovarian cancer by targeting PIK3R6., [RefSeq, PubMed]; Regulatory subunit of the PI3K gamma complex. Acts as an adapter to drive activation of PIK3CG by beta-gamma G protein dimers. The PIK3CG:PIK3R6 heterodimer is much less sensitive to beta-gamma G protein dimers than PIK3CG:PIK3R5 and its membrane recruitment and beta-gamma G protein dimer-dependent activation requires HRAS bound to PIK3CG. Recruits of the PI3K gamma complex to a PDE3B:RAPGEF3 signaling complex involved in angiogenesis; signaling seems to involve RRAS., [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": 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": "Q658R3", "ec_number_list": [], "go_molecular_function": "GO:0046935 1-phosphatidylinositol-3-kinase regulator activity;GO:0046934 1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005944 phosphatidylinositol 3-kinase complex, class IB;GO:0005942 phosphatidylinositol 3-kinase complex", "go_biological_process": "GO:0001525 angiogenesis;GO:0006955 immune response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0045766 positive regulation of angiogenesis;GO:0043406 positive regulation of MAP kinase activity", "synthesized_glycan_count": 0, "hit_score": 19.6, "record_id": "Q5UE93-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75626-1", "uniprot_id": [ { "id": "PRDM1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75626", "type": "external" } ], "mass": 91771.0, "length": 825, "protein_name": "PR domain zinc finger protein 1", "gene_name": "PRDM1", "organism": "Human", "refseq_name": "PR domain zinc finger protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001189", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189", "type": "external" } ], "gene_names_uniprotkb": "PRDM1; BLIMP1", "gene_names_refseq": "BLIMP-1; BLIMP1; PRDI-BF1; PRDM1", "protein_names_uniprotkb": "PR domain zinc finger protein 1; 2.1.1.-; BLIMP-1; Beta-interferon gene positive regulatory domain I-binding factor; PR domain-containing protein 1; PRDI-BF1; PRDI-binding factor 1; Positive regulatory domain I-binding factor 1", "protein_names_refseq": "B-lymphocyte-induced maturation protein 1; PR domain 1; PR domain containing 1, with ZNF domain; PR domain zinc finger protein 1 isoform 1; PR domain zinc finger protein 1; PRDI-binding factor-1; beta-interferon gene positive-regulatory domain I binding factor", "tax_id": 9606, "disease": "diffuse large B-cell lymphoma (Disease Ontology:DOID:0050745); nasal type extranodal NK/T-cell lymphoma (Disease Ontology:DOID:0080797); lung cancer (Disease Ontology:DOID:1324); lung adenocarcinoma (Disease Ontology:DOID:3910); hepatocellular carcinoma (Disease Ontology:DOID:684); systemic lupus erythematosus (Disease Ontology:DOID:9074); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:639); (R-HSA-6804754); (R-HSA-9701898); (R-HSA-9827857)", "pathway_count": 4, "publication_count": 63, "publication_id_list": "11237011;12626569;15653507;17264218;1851123;19088198;21102525;21421998;21715655;22555612;24004669;24613396;24714562;24743655;24968003;25115512;25193384;25543152;25892735;26189426;27846572;27879258;28832583;28842558;28985527;29091993;29097600;29493099;29557506;29713018;30590035;30692217;31092671;31492838;31844290;31998317;32127035;32157095;32265295;32387766;32417234;32502341;32938616;32983136;33298915;33470497;33608411;33717175;33912179;34065661;34907035;35051231;35411086;36284347;36964555;37385228;38456586;39097652;39432156;7813439;7859740;7878469;7891710", "class_list": "", "function": "Exploring the putative role of PRDM1 and PRDM2 transcripts as mediators of T lymphocyte activation. Publication Status: Online-Only, [RefSeq, PubMed]; Human split hand/foot variants are not as functional as wildtype human PRDM1 in the rescue of craniofacial defects., [RefSeq, PubMed]; PRDM1 promotes nucleus pulposus cell pyroptosis leading to intervertebral disc degeneration via activating CASP1 transcription. Publication Status: Online-Only, [RefSeq, PubMed]; PTIP epigenetically regulates DNA damage-induced cell cycle arrest by upregulating PRDM1. Publication Status: Online-Only, [RefSeq, PubMed]; Pro-Inflammatory of PRDM1/SIRT2/NLRP3 Axis in Monosodium Urate-Induced Acute Gouty Arthritis., [RefSeq, PubMed]; This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. Two alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that mediates a transcriptional program in various innate and adaptive immune tissue-resident lymphocyte T cell types such as tissue-resident memory T (Trm), natural killer (trNK) and natural killer T (NKT) cells and negatively regulates gene expression of proteins that promote the egress of tissue-resident T-cell populations from non-lymphoid organs. Plays a role in the development, retention and long-term establishment of adaptive and innate tissue-resident lymphocyte T cell types in non-lymphoid organs, such as the skin and gut, but also in other nonbarrier tissues like liver and kidney, and therefore may provide immediate immunological protection against reactivating infections or viral reinfection. Binds specifically to the PRDI element in the promoter of the beta-interferon gene. Drives the maturation of B-lymphocytes into Ig secreting cells. Associates with the transcriptional repressor ZNF683 to chromatin at gene promoter regions., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, UniProtKB]", "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": 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": 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": 4, "reported_glycation": 0, "reported_snv": 61, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B2REA6;E1P5E0;Q86WM7", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0008168 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0032823 regulation of natural killer cell differentiation;GO:0033082 regulation of extrathymic T cell differentiation;GO:0051136 regulation of NK T cell differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "O75626-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100010001000.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P78563-1", "uniprot_id": [ { "id": "RED1_HUMAN", "url": "https://www.uniprot.org/uniprot/P78563", "type": "external" } ], "mass": 80763.0, "length": 741, "protein_name": "Double-stranded RNA-specific editase 1", "gene_name": "ADARB1", "organism": "Human", "refseq_name": "double-stranded RNA-specific editase 1 isoform 1", "refseq_ac": [ { "id": "NP_001103", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103", "type": "external" } ], "gene_names_uniprotkb": "ADARB1; ADAR2; DRADA2; RED1", "gene_names_refseq": "ADAR2; ADARB1; DRABA2; DRADA2; NEDHYMS; RED1", "protein_names_uniprotkb": "Double-stranded RNA-specific editase 1; 3.5.4.37; RNA-editing deaminase 1; RNA-editing enzyme 1; dsRNA adenosine deaminase", "protein_names_refseq": "RNA editing deaminase 1; RNA-editing enzyme 1; adenosine deaminase, RNA-specific, B1 (homolog of rat RED1); double-stranded RNA-specific editase 1 isoform 1; double-stranded RNA-specific editase 1; dsRNA adenosine deaminase DRADA2", "tax_id": 9606, "disease": "transient cerebral ischemia (Disease Ontology:DOID:224); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); obesity (Disease Ontology:DOID:9970); neurodevelopmental disorder with hypotonia, microcephaly, and seizures (MONDO:MONDO:0030025)", "pathway": " (hsa:104); (R-HSA-75102); (R-HSA-77042)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "11237011;12459255;12618436;12840004;14759258;15302935;16141067;16297572;18178553;18669648;19156214;19908260;20068231;20192758;21182352;21211811;21289159;21769729;22022963;22113393;22988838;23186163;25418920;25576301;26992070;27846572;27862975;28132026;28228285;28832583;28834231;29242379;29393594;29493099;29632046;29694894;29786170;30429286;31154438;31844290;31848261;32157095;32220291;32265295;32387766;32938616;32983136;33392160;33912179;34087483;35051231;35580925;36796022;37544632;9111310;9143496;9149227;9330641", "class_list": "", "function": "Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing. This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependent activities such as microRNA production or targeting or protein-RNA interactions. Can edit both viral and cellular RNAs and can edit RNAs at multiple sites (hyper-editing) or at specific sites (site-specific editing). Its cellular RNA substrates include: bladder cancer-associated protein (BLCAP), neurotransmitter receptors for glutamate (GRIA2 and GRIK2) and serotonin (HTR2C), GABA receptor (GABRA3) and potassium voltage-gated channel (KCNA1). Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions which consequently alter their functional activities. Edits GRIA2 at both the Q/R and R/G sites efficiently but converts the adenosine in hotspot1 much less efficiently. Can exert a proviral effect towards human immunodeficiency virus type 1 (HIV-1) and enhances its replication via both an editing-dependent and editing-independent mechanism. The former involves editing of adenosines in the 5'UTR while the latter occurs via suppression of EIF2AK2/PKR activation and function. Can inhibit cell proliferation and migration and can stimulate exocytosis., [UniProtKB, PubMed, PubMed, PubMed]; Core-binding factor fusion downregulation of ADAR2 RNA editing contributes to AML leukemogenesis., [RefSeq, PubMed]; Has a higher catalytic activity than isoform 1., [UniProtKB, PubMed]; Has a lower catalytic activity than isoform 2., [UniProtKB, PubMed]; Orchestration of a blood-derived and ADARB1-centred network in Alzheimer's and Parkinson's disease., [RefSeq, PubMed]; This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "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": "A6NFK8;A6NJ84;C3TTQ1;C3TTQ2;C9JUP4;G5E9B4;O00395;O00465;O00691;O00692;P78555;Q4AE77;Q4AE79;Q6P0M9;Q8NFA1;Q8NFD1", "ec_number_list": [ { "id": "3.5.4.37", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.4.37", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008251 tRNA-specific adenosine deaminase activity;GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006396 RNA processing;GO:0006397 mRNA processing;GO:0008285 negative regulation of cell population proliferation;GO:0016556 mRNA modification;GO:0045087 innate immune response", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "P78563-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NCN5-1", "uniprot_id": [ { "id": "PDPR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NCN5", "type": "external" } ], "mass": 99364.0, "length": 879, "protein_name": "Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial", "gene_name": "PDPR", "organism": "Human", "refseq_name": "pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_001309046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309046", "type": "external" } ], "gene_names_uniprotkb": "PDPR; KIAA1990", "gene_names_refseq": "PDP3; PDPR", "protein_names_uniprotkb": "Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial; PDPr", "protein_names_refseq": "pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial isoform 1 precursor; pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:55066); (R-HSA-204174)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "11237011;11327815;11485553;11486000;12056414;15855260;17532339;17544412;19833728;20068231;20808825;20877624;20884751;24715725;25505266;25525879;25576301;26154972;27846572;28904123;29437277;30397120;31217245;31844290;32357974;32502341;32938616;33141586;33298915;33912179;34211107;34357683;35051231;38062777;40914422;7499431;8798399;9395502;9405293;9651365;9710704;9815194", "class_list": "", "function": "Decreases the sensitivity of PDP1 to magnesium ions, and this inhibition is reversed by the polyamine spermine., [UniProtKB, UniProtKB, UniProtKB]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; PDPR Gene Variants Predisposing to Papillary Thyroid Cancer., [RefSeq, PubMed]; Pyruvate dehydrogenase complex (PDC) catalyzes the oxidative decarboxylation of pyruvate and links glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. The dephosphorylation and reactivation of PDC is catalyzed by pyruvate dehydrogenase phosphatase (PDP). The dimeric PDP has a catalytic subunit and a regulatory subunit. This gene encodes the FAD-containing regulatory subunit of PDP. The encoded protein acts to decrease the sensitivity of the PDP catalytic subunit to magnesium ions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "A7E298;A8K8Y7;B3KSE1;Q6AI20;Q6AWC9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0140176 positive regulation of pyruvate decarboxylation to acetyl-CoA", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q8NCN5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5V2-1", "uniprot_id": [ { "id": "NGEF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5V2", "type": "external" } ], "mass": 82496.0, "length": 710, "protein_name": "Ephexin-1", "gene_name": "NGEF", "organism": "Human", "refseq_name": "ephexin-1 isoform 2", "refseq_ac": [ { "id": "NP_001107562", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107562", "type": "external" } ], "gene_names_uniprotkb": "NGEF", "gene_names_refseq": "ARHGEF27; EPHEXIN; NGEF", "protein_names_uniprotkb": "Ephexin-1; Eph-interacting exchange protein; Neuronal guanine nucleotide exchange factor", "protein_names_refseq": "eph-interacting exchange protein; ephexin-1 isoform 2; ephexin-1; ephexin1", "tax_id": 9606, "disease": "", "pathway": " (hsa:25791); (R-HSA-193648); (R-HSA-3928663); (R-HSA-416482); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 7, "publication_count": 345, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10769020;10777665;10873388;10873802;10958683;11007481;11058585;11085924;11149925;11179879;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;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;15848799;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;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;23200924;23209303;23255595;23288169;23406282;23434736;23481700;23572525;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;26340433;26371245;26529257;26598554;26887924;27072905;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27986909;28028151;28112683;28114311;28196833;28584191;28825699;28860633;29089502;29146911;29358323;29382922;29557506;30007591;30061681;30853411;31105010;31844290;31871319;32203420;32938616;34171305;34711817;35051231;36010968;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": "A visceral-fat-associated SNP, rs11678490 of NGEF, was found in Korean men. Publication Status: Online-Only, [RefSeq, PubMed]; Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1 and CDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse and dendritic spine morphogenesis. Upon activation by ephrin through EPHA4, the GEF activity switches toward RHOA resulting in its activation. Activated RHOA promotes cone retraction at the expense of RAC1- and CDC42-stimulated growth cone extension (By similarity)., [UniProtKB]; Akt-mediated Ephexin1-Ras interaction promotes oncogenic Ras signaling and colorectal and lung cancer cell proliferation. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "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": "B4DMB8;B9A045;E9PC42;Q53QQ4;Q53ST7;Q6GMQ5;Q9NQD6", "ec_number_list": [], "go_molecular_function": "GO:0046875 ephrin receptor binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005829 cytosol;GO:0016020 membrane;GO:0030426 growth cone;GO:0042995 cell projection", "go_biological_process": "GO:0007399 nervous system development;GO:0030154 cell differentiation;GO:0032956 regulation of actin cytoskeleton organization;GO:0043087 regulation of GTPase activity;GO:0048013 ephrin receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 34.6, "record_id": "Q8N5V2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z5K2-1", "uniprot_id": [ { "id": "WAPL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z5K2", "type": "external" } ], "mass": 132946.0, "length": 1190, "protein_name": "Wings apart-like protein homolog", "gene_name": "WAPL", "organism": "Human", "refseq_name": "wings apart-like protein homolog isoform 2", "refseq_ac": [ { "id": "NP_001305257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305257", "type": "external" } ], "gene_names_uniprotkb": "WAPL; FOE; KIAA0261; WAPAL", "gene_names_refseq": "FOE; KIAA0261; WAPAL; WAPL", "protein_names_uniprotkb": "Wings apart-like protein homolog; Friend of EBNA2 protein; WAPL cohesin release factor", "protein_names_refseq": "friend of EBNA2 (Epstein-Barr virus nuclear protein 2); friend of EBNA2 protein; wings apart-like protein homolog isoform 2; wings apart-like protein homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:23063); (R-HSA-2467813); (R-HSA-2468052); (R-HSA-2470946); (R-HSA-2500257)", "pathway_count": 5, "publication_count": 121, "publication_id_list": "10.1101/2023.09.13.557529;10411507;11081627;11237011;11371342;11509732;12194817;14730319;15150110;15339662;15383329;15723797;15737063;15821733;15837422;15958495;16541025;16682347;17081983;17112726;17113138;17322306;18097444;18212344;18411254;18452278;18614053;18669648;18691976;18707149;18716626;18767875;19369195;19413330;19415658;19608861;19651622;19664995;19690332;19691289;19696148;19907496;19965387;20058876;20068231;20166139;20230923;21111234;21406692;21878504;21987589;22101327;22885700;23186163;23301498;23481700;23776203;24275569;24366607;24715725;25576301;25645385;26154972;26299517;26375851;26992070;27846572;27862975;27920218;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29508533;29557506;29632711;29786170;30158690;30315122;30410026;30429286;30779550;31092671;31217245;31844290;32157095;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33947962;33968037;33981976;34171305;34211107;34260926;34405274;35051231;35136067;35580925;35705054;36010968;36241641;36284347;40914422;8291532;9649503;9892021", "class_list": "", "function": "A Mediator-cohesin axis controls heterochromatin domain formation. Publication Status: Online-Only, [RefSeq, PubMed]; FOE encodes a protein of 1227 amino acids with a functional bipartite nuclear localization signal, an arginine-rich motif, a putative nuclear export signal as well as with three highly acidic regions and a predicted coiled-coil domain., [RefSeq, PubMed]; Regulator of sister chromatid cohesion in mitosis which negatively regulates cohesin association with chromatin. Involved in both sister chromatid cohesion during interphase and sister-chromatid resolution during early stages of mitosis. Couples DNA replication to sister chromatid cohesion. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; WAPL induces cervical intraepithelial neoplasia modulated with estrogen signaling without HPV E6/E7., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 16, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 31, "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": "A7E2B5;Q5VSK5;Q8IX10;Q92549", "ec_number_list": [], "go_molecular_function": "GO:0140083 ATP-dependent protein-DNA unloader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0045875 negative regulation of sister chromatid cohesion;GO:0051301 cell division;GO:0000070 mitotic sister chromatid segregation;GO:0008156 negative regulation of DNA replication;GO:0035562 negative regulation of chromatin binding", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q7Z5K2-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00562-1", "uniprot_id": [ { "id": "PITM1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00562", "type": "external" } ], "mass": 134848.0, "length": 1244, "protein_name": "Membrane-associated phosphatidylinositol transfer protein 1", "gene_name": "PITPNM1", "organism": "Human", "refseq_name": "membrane-associated phosphatidylinositol transfer protein 1 isoform b", "refseq_ac": [ { "id": "NP_001124320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124320", "type": "external" } ], "gene_names_uniprotkb": "PITPNM1; DRES9; NIR2; PITPNM", "gene_names_refseq": "DRES9; NIR2; PITPNM1; PITPNM; RDGB1; RDGBA1; RDGBA; RDGB; Rd9", "protein_names_uniprotkb": "Membrane-associated phosphatidylinositol transfer protein 1; Drosophila retinal degeneration B homolog; NIR-2; PITPnm 1; Phosphatidylinositol transfer protein, membrane-associated 1; Pyk2 N-terminal domain-interacting receptor 2", "protein_names_refseq": "NIR-2; PITPnm 1; PYK2 N-terminal domain-interacting receptor 2; drosophila retinal degeneration B homolog; membrane-associated phosphatidylinositol transfer protein 1 isoform b; membrane-associated phosphatidylinositol transfer protein 1; retinal degeneration B alpha 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9600); (R-HSA-1483226)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10022914;10531358;11237011;11909959;12225667;15125835;15302935;15545272;15627748;15723057;17081983;17377520;18452278;19531498;22822086;23186163;23897088;24275569;25576301;25880248;25887399;26028218;26154972;26375851;26811146;27920218;28218747;28228285;28832583;28904123;29242379;29351928;29437277;29493099;29557506;29632711;30315122;30379171;30410026;30429286;31484747;31548259;31844290;32157095;32357974;32938616;32983136;33298915;33717175;33912179;33968037;33981976;34171305;34357683;34509645;34561969;34572478;34932366;35051231;35494241;35580925;36215666;36241641;36284347;3718705;39894887;41129229;9407135;9680295", "class_list": "", "function": "Attenuation of PITPNM1 Signaling Cascade Can Inhibit Breast Cancer Progression. Publication Status: Online-Only, [RefSeq, PubMed]; Authors found that the phosphatidylinositol transfer protein Nir2 acts as an LTP and may replenish PI at the HCV RO by interacting with VAMP-associated proteins (VAPs), enabling continuous viral replication during chronic infection. Publication Status: Online-Only, [RefSeq, PubMed]; Membrane-associated phosphatidylinositol (PI) transfer protein that shuttles PI between intracellular membranes and thereby maintains plasma-membrane phosphoinositide signaling competence (PubMed:10531358, PubMed:22822086, PubMed:25887399, PubMed:26028218, PubMed:41129229). Transfers phosphatidylinositol from the endoplasmic reticulum to the plasma membrane and mediates counter-transport of phosphatidic acid (PA) from the plasma membrane to the endoplasmic reticulum at endoplasmic reticulum-plasma membrane contact sites, this PI/PA exchange is required for sustained PLC-coupled receptor signaling and for replenishment of plasma membrane phosphoinositide following receptor-induced hydrolysis (PubMed:10531358, PubMed:22822086, PubMed:26028218). Regulates RHOA activity, and plays a role in cytoskeleton remodeling (PubMed:11909959). Necessary for normal completion of cytokinesis (PubMed:15125835). Plays a role in maintaining normal diacylglycerol levels in the Golgi apparatus (PubMed:15723057). Necessary for maintaining the normal structure of the endoplasmic reticulum and the Golgi apparatus (PubMed:15545272). Required for protein export from the endoplasmic reticulum and the Golgi (PubMed:11909959, PubMed:15545272, PubMed:15723057)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PITPNM1 belongs to a family of membrane-associated phosphatidylinositol transfer domain-containing proteins that share homology with the Drosophila retinal degeneration B (rdgB) protein (Ocaka et al., 2005 [PubMed 15627748]).[supplied by OMIM, Mar 2008]., [RefSeq]; Phosphatidic acid production triggers Phosphatidylinositol 4,5-Bisphosphate replenishment mediated by Nir2 and Nir3 at endoplasmic reticulum-plasma membrane junctions., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 22, "reported_mutagensis": 23, "reported_glycation": 0, "reported_snv": 27, "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": "A6NME4;Q6T7X3;Q8TBN3;Q9BZ73", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0030971 receptor tyrosine kinase binding;GO:0031210 phosphatidylcholine binding;GO:0035091 phosphatidylinositol binding;GO:0070300 phosphatidic acid binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005811 lipid droplet;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0044297 cell body", "go_biological_process": "GO:0015031 protein transport;GO:0015914 phospholipid transport;GO:0006661 phosphatidylinositol biosynthetic process;GO:1902633 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "O00562-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92696-1", "uniprot_id": [ { "id": "PGTA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92696", "type": "external" } ], "mass": 65072.0, "length": 567, "protein_name": "Geranylgeranyl transferase type-2 subunit alpha", "gene_name": "RABGGTA", "organism": "Human", "refseq_name": "geranylgeranyl transferase type-2 subunit alpha", "refseq_ac": [ { "id": "NP_004572", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004572", "type": "external" } ], "gene_names_uniprotkb": "RABGGTA", "gene_names_refseq": "PTAR3; RABGGTA", "protein_names_uniprotkb": "Geranylgeranyl transferase type-2 subunit alpha; 2.5.1.60; Geranylgeranyl transferase type II subunit alpha; Rab GG transferase alpha; Rab GGTase alpha; Rab geranyl-geranyltransferase subunit alpha; Rab geranylgeranyltransferase subunit alpha", "protein_names_refseq": "Rab GG transferase alpha; Rab GGTase alpha; Rab geranylgeranyltransferase alpha subunit; geranylgeranyl transferase type II subunit alpha; geranylgeranyl transferase type-2 subunit alpha; protein prenyltransferase alpha subunit repeat containing 3; rab geranyl-geranyltransferase subunit alpha", "tax_id": 9606, "disease": "Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753)", "pathway": " (hsa:5875); (R-HSA-6803205); (R-HSA-8873719)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "10733530;11054413;11141079;11237011;11389151;11447212;11675392;11684014;11714700;11919562;1321151;14614825;14729977;15377670;15577913;15797384;15837622;15958553;16140933;16249378;16401880;1648736;17114793;17411337;17442733;18532927;19040420;19349281;19549844;19603039;22694141;23059823;23182941;23301498;23671130;24023390;24260043;25341920;25880248;26969162;27846572;29557506;30429286;31844290;32157095;32265295;32350084;32387766;32502341;32938616;32983136;33912179;33968037;34171305;34357683;34509645;35051231;35580925;36284347;36581221;40914422;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8836150;8954794;9196026", "class_list": "", "function": "Catalyzes the transfer of a geranyl-geranyl moiety from geranyl-geranyl pyrophosphate to cysteines occuring in specific C-terminal amino acid sequences., [UniProtKB, UniProtKB, UniProtKB]; 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., [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": 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": "A8K5N2;D3DS69", "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_cellular_component": "GO:0005737 cytoplasm;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;GO:0097354 prenylation", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q92696-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q68BL7-1", "uniprot_id": [ { "id": "OLM2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q68BL7", "type": "external" } ], "mass": 73054.0, "length": 652, "protein_name": "Olfactomedin-like protein 2A", "gene_name": "OLFML2A", "organism": "Human", "refseq_name": "olfactomedin-like protein 2A isoform 2", "refseq_ac": [ { "id": "NP_001269644", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269644", "type": "external" } ], "gene_names_uniprotkb": "OLFML2A; PRO34319", "gene_names_refseq": "OLFML2A; PRO34319", "protein_names_uniprotkb": "Olfactomedin-like protein 2A; Photomedin-1", "protein_names_refseq": "olfactomedin-like protein 2A isoform 2; olfactomedin-like protein 2A; photomedin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:169611)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;22913984;23090970;24190977;26992070;29237092;29557506;30429286;31154438;31844290;32161166;32350084;33392160;33592498;35051231;36010968;37074911;38665916", "class_list": "", "function": "Three neuronal proteins (Huntingtin interacting protein 1, neurofascin, and olfactomedin-like 2a) are novel components of podocyte major processes and their expression in glomerular crescents supports their role in crescent formation., [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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5JTM5;Q5JTM6;Q6UXW1;Q7Z5V3", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0050840 extracellular matrix binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q68BL7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94818-1", "uniprot_id": [ { "id": "NOL4_HUMAN", "url": "https://www.uniprot.org/uniprot/O94818", "type": "external" } ], "mass": 71357.0, "length": 638, "protein_name": "Nucleolar protein 4", "gene_name": "NOL4", "organism": "Human", "refseq_name": "nucleolar protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001185475", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185475", "type": "external" } ], "gene_names_uniprotkb": "NOL4; HRIHFB2255; NOLP", "gene_names_refseq": "CT125; HRIHFB2255; NOL4; NOLP", "protein_names_uniprotkb": "Nucleolar protein 4; Nucleolar-localized protein", "protein_names_refseq": "cancer/testis antigen 125; nucleolar localized protein; nucleolar protein 4 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8715)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;24337411;25892735;28832583;29242379;29557506;29666346;31844290;32157095;34065612;34171305;35051231;35580925;36282054;36710296;9813152;9853615", "class_list": "", "function": "Cancer Testis Antigen, NOL4, Is an Immunogenic Antigen Specifically Expressed in Small-Cell Lung Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated gene., [RefSeq, PubMed]; NOL4 is a novel nuclear marker of small cell carcinoma and other neuroendocrine neoplasms., [RefSeq, PubMed]; NOL4 was identified as a highly specific promoter methylated gene associated with head and neck squamous cell carcinoma, [RefSeq, PubMed]; The cosegregation of an intronic rare variant in NOL4 in one family, and a haplotype consisting of three variants in the noncoding region of IRF6 (introns 1, 8 and 3'UTR) in the other family, are reported., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DSQ0;B7Z3Z7;F5H1E3;Q6IBS2;Q9BWF1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "O94818-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63128-1", "uniprot_id": [ { "id": "POK9_HUMAN", "url": "https://www.uniprot.org/uniprot/P63128", "type": "external" } ], "mass": 123620.0, "length": 1117, "protein_name": "Endogenous retrovirus group K member 9 Pol protein", "gene_name": "ERVK-9", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ERVK-9", "gene_names_refseq": "", "protein_names_uniprotkb": "Endogenous retrovirus group K member 9 Pol protein; HERV-K(C6) Gag-Pol protein; HERV-K109 Gag-Pol protein; HERV-K_6q14.1 provirus ancestral Gag-Pol polyprotein; PR; Retropepsin; p66 RT", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "10469592;12629516;12970426;14557543;15063128;26758079;29242379;34509645;35051231;35080970;7983737", "class_list": "", "function": "Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution (By similarity)., [UniProtKB]; Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties., [UniProtKB, PubMed]; Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution (By similarity)., [UniProtKB]; Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity)., [UniProtKB]; SU mediates receptor recognition., [UniProtKB]; TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity)., [UniProtKB]; The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution., [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": "Q9UKH4", "ec_number_list": [ { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.7.7.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.31", "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": "3.1.26.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.4", "type": "external" }, { "id": "3.4.23.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.50", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.7.102", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.102", "type": "external" } ], "go_molecular_function": "GO:0003887 DNA-directed DNA polymerase activity;GO:0003964 RNA-directed DNA polymerase activity;GO:0003723 RNA binding;GO:0008270 zinc ion binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006508 proteolysis;GO:0075523 viral translational frameshifting;GO:0051028 mRNA transport", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P63128-1", "record_type": "protein", "filter_code": "0000000.0000100.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH67-1", "uniprot_id": [ { "id": "O52I2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH67", "type": "external" } ], "mass": 38353.0, "length": 350, "protein_name": "Olfactory receptor 52I2", "gene_name": "OR52I2", "organism": "Human", "refseq_name": "olfactory receptor 52I2", "refseq_ac": [ { "id": "NP_001005170", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005170", "type": "external" } ], "gene_names_uniprotkb": "OR52I2", "gene_names_refseq": "OR11-12; OR52I2", "protein_names_uniprotkb": "Olfactory receptor 52I2; Olfactory receptor OR11-12", "protein_names_refseq": "olfactory receptor 52I2; olfactory receptor OR11-12", "tax_id": 9606, "disease": "", "pathway": " (hsa:143502); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "11237011;12732197;14983052;24800820;27515280;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB, UniProtKB, UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; This publication uses 'GPR133' as a name for this gene., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "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": "B2RNJ5;B9EKV8;Q6IFJ8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NH67-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGS6-1", "uniprot_id": [ { "id": "O13C3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGS6", "type": "external" } ], "mass": 38729.0, "length": 347, "protein_name": "Olfactory receptor 13C3", "gene_name": "OR13C3", "organism": "Human", "refseq_name": "olfactory receptor 13C3", "refseq_ac": [ { "id": "NP_001001961", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001961", "type": "external" } ], "gene_names_uniprotkb": "OR13C3", "gene_names_refseq": "OR13C3; OR37G; OR9-8", "protein_names_uniprotkb": "Olfactory receptor 13C3; Olfactory receptor OR9-8", "protein_names_refseq": "olfactory receptor 13C3; olfactory receptor OR9-8", "tax_id": 9606, "disease": "", "pathway": " (hsa:138803); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 24, "publication_id_list": "10460249;11237011;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;29557506;31040214;31974307;32066986;33091337", "class_list": "", "function": "Odorant receptor., [UniProtKB, UniProtKB, UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": "Q5VVG1;Q6IF52", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8NGS6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NDH6-1", "uniprot_id": [ { "id": "O5H15_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NDH6", "type": "external" } ], "mass": 35352.0, "length": 313, "protein_name": "Olfactory receptor 5H15", "gene_name": "OR5H15", "organism": "Human", "refseq_name": "olfactory receptor 5H15", "refseq_ac": [ { "id": "NP_001005515", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005515", "type": "external" } ], "gene_names_uniprotkb": "OR5H15", "gene_names_refseq": "OR5H15", "protein_names_uniprotkb": "Olfactory receptor 5H15", "protein_names_refseq": "olfactory receptor 5H15", "tax_id": 9606, "disease": "", "pathway": " (hsa:403274); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "24715725;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NDH6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NF83-1", "uniprot_id": [ { "id": "NUPR2_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NF83", "type": "external" } ], "mass": 11356.0, "length": 97, "protein_name": "Nuclear protein 2", "gene_name": "NUPR2", "organism": "Human", "refseq_name": "nuclear protein 2", "refseq_ac": [ { "id": "NP_001139184", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139184", "type": "external" } ], "gene_names_uniprotkb": "NUPR2; NUPR1L", "gene_names_refseq": "NUPR1L; NUPR2; P8", "protein_names_uniprotkb": "Nuclear protein 2; Nuclear transcriptional regulator 1-like protein; Nuclear transcriptional regulator protein 2", "protein_names_refseq": "nuclear protein 2; nuclear protein, transcriptional regulator, 1-like; nuclear transcriptional regulator 1-like protein; nuclear transcriptional regulator protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:389493)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "25899918;29925531", "class_list": "", "function": "Acts as a transcriptional repressor by inhibiting gene expression at the NUPR1 promoter in a p53/TP53-dependent manner in cancer cells (PubMed:25899918). Involved in the G1 cell cycle arrest, and in a decrease in cell viability and cell proliferation (PubMed:25899918). Plays a role as a negative regulator of the protumoral factor NUPR1 (PubMed:25899918)., [UniProtKB, PubMed]; Functional characterization of NUPR1L as a new p53-induced gene, which negatively regulates the protumoral factor NUPR1., [RefSeq, PubMed]; NUPR1L hetero-associated with NUPR1 with an affinity of 0.4 microM and interacted with the 'hot-spot' region of NUPR1. 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_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0008285 negative regulation of cell population proliferation;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A6NF83-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NGY5-1", "uniprot_id": [ { "id": "O51F1_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NGY5", "type": "external" } ], "mass": 35849.0, "length": 319, "protein_name": "Olfactory receptor 51F1", "gene_name": "OR51F1", "organism": "Human", "refseq_name": "olfactory receptor 51F1", "refseq_ac": [ { "id": "NP_001004752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004752", "type": "external" } ], "gene_names_uniprotkb": "OR51F1; OR51F1P", "gene_names_refseq": "OR11-21; OR51F1P; OR51F1", "protein_names_uniprotkb": "Olfactory receptor 51F1", "protein_names_refseq": "olfactory receptor 51F1; olfactory receptor OR11-21 pseudogene; olfactory receptor, family 51, subfamily F, member 1 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:256892); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "11237011;12730696;24800820;27515280;28411811;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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Publication Status: Online-Only, [RefSeq, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "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": "B9EIM0", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A6NM03-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NM76-1", "uniprot_id": [ { "id": "O6C76_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NM76", "type": "external" } ], "mass": 35119.0, "length": 312, "protein_name": "Olfactory receptor 6C76", "gene_name": "OR6C76", "organism": "Human", "refseq_name": "olfactory receptor 6C76 isoform 1", "refseq_ac": [ { "id": "NP_001005183", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005183", "type": "external" } ], "gene_names_uniprotkb": "OR6C76", "gene_names_refseq": "OR6C76", "protein_names_uniprotkb": "Olfactory receptor 6C76", "protein_names_refseq": "olfactory receptor 6C76 isoform 1; olfactory receptor 6C76", "tax_id": 9606, "disease": "", "pathway": " (hsa:390326); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "10.1101/2023.09.13.557529;24800820;27515280;31974307;32066986;32983136;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 9, "reported_interactions": 0, "missing_score": 9671, "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:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "A6NM76-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NND4-1", "uniprot_id": [ { "id": "O2AT4_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NND4", "type": "external" } ], "mass": 35503.0, "length": 320, "protein_name": "Olfactory receptor 2AT4", "gene_name": "OR2AT4", "organism": "Human", "refseq_name": "olfactory receptor 2AT4 isoform 1", "refseq_ac": [ { "id": "NP_001005285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005285", "type": "external" } ], "gene_names_uniprotkb": "OR2AT4", "gene_names_refseq": "OR11-265; OR2AT4", "protein_names_uniprotkb": "Olfactory receptor 2AT4; Olfactory receptor OR11-265", "protein_names_refseq": "olfactory receptor 2AT4 isoform 1; olfactory receptor 2AT4; olfactory receptor OR11-265 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:341152); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 35, "publication_id_list": "10460249;14983052;15598656;17601748;17873857;17973576;19474308;19581598;23481700;24316890;24800820;24999593;25784876;25892735;25977809;26373539;27515280;27916747;27916748;28656349;28832583;29235485;29393594;30228264;31040214;31974307;32066986;32387766;33968037;34087483;34509645;35051231;35092815;36215666;37587642", "class_list": "", "function": "Identification of Key Biomarkers and Immune Infiltration in Sporadic Vestibular Schwannoma Basing Transcriptome-Wide Profiling., [RefSeq, PubMed]; OR2AT4 is involved in human keratinocyte re-epithelialization during wound-healing processes, [RefSeq, PubMed]; Olfactory receptor (PubMed:24999593, PubMed:30228264). Activated by the synthetic sandalwood odorant sandalore (PubMed:24999593, PubMed:30228264). Endogenous ligand is unknown (Probable). The activity of this receptor is probably mediated by G proteins which induce elevation of intracellular Ca(2+), a cAMP-dependent pathway and phosphorylation of MAPK1/ERK2, MAPK3/ERK1 and p38 MAPKs (PubMed:24999593, PubMed:30228264). Activation of OR2AT4 induces proliferation, migration, and re-epithelialization during wound-healing processes of keratinocytes (PubMed:24999593). Stimulation of OR2AT4 by sandalore promotes hair growth by decreasing apoptosis and increasing production of the anagen-prolonging growth factor IGF1 as well as other pathways involving various kinases (PubMed:30228264)., [UniProtKB, PubMed, PubMed]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; Preliminary evidence that Merkel cells exert chemosensory functions in human epidermis., [RefSeq, PubMed]; Study shows that human hair follicles (HF) can engage in chemosensation and that the specific activation of OR2AT4 is required to sustain HF growth. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EGZ8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "A6NND4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B1AL46-1", "uniprot_id": [ { "id": "NTM2E_HUMAN", "url": "https://www.uniprot.org/uniprot/B1AL46", "type": "external" } ], "mass": 93979.0, "length": 878, "protein_name": "NUT family member 2E", "gene_name": "NUTM2E", "organism": "Human", "refseq_name": "nUT family member 2E", "refseq_ac": [ { "id": "NP_001342192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001342192", "type": "external" } ], "gene_names_uniprotkb": "NUTM2E; 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Olfactory receptor OR19-24", "protein_names_refseq": "olfactory receptor 10H3; olfactory receptor OR19-24", "tax_id": 9606, "disease": "", "pathway": " (hsa:26532); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;24800820;27515280;28228285;31154438;31974307;32066986;33912179", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q2HIZ3;Q6IFQ0", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "O60404-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60551-1", "uniprot_id": [ { "id": "NMT2_HUMAN", "url": "https://www.uniprot.org/uniprot/O60551", "type": "external" } ], "mass": 56980.0, "length": 498, "protein_name": "Glycylpeptide N-tetradecanoyltransferase 2", "gene_name": "NMT2", "organism": "Human", "refseq_name": "glycylpeptide N-tetradecanoyltransferase 2 isoform 2", "refseq_ac": [ { "id": "NP_001295224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295224", "type": "external" } ], "gene_names_uniprotkb": "NMT2", "gene_names_refseq": "NMT2", "protein_names_uniprotkb": "Glycylpeptide N-tetradecanoyltransferase 2; 2.3.1.-; 2.3.1.97; Myristoyl-CoA:protein N-myristoyltransferase 2; NMT 2; Peptide N-myristoyltransferase 2; Protein-lysine myristoyltransferase NMT2; Type II N-myristoyltransferase", "protein_names_refseq": "NMT 2; glycylpeptide N-tetradecanoyltransferase 2 isoform 2; myristoyl-CoA:protein N-myristoyltransferase 2; peptide N-myristoyltransferase 2; protein-lysine myristoyltransferase NMT2; type II N-myristoyltransferase", "tax_id": 9606, "disease": "muscular disease (Disease Ontology:DOID:0080000)", "pathway": " (hsa:9397); (R-HSA-174490); (R-HSA-203615); (R-HSA-2514859)", "pathway_count": 4, "publication_count": 116, "publication_id_list": "10.1101/2023.09.13.557529;10037746;10051575;10376602;10376603;10469573;10559837;10564809;10676965;10781589;11112487;11208594;11237011;11292825;11498544;11527981;11601986;11687658;11713293;11754336;11879202;11893755;11988487;12036349;12119397;12499365;12663786;12799359;12825937;1356371;1379636;1387789;1436039;14530264;14702087;15218037;15509564;15598505;15613341;15946941;16274222;16722822;16775314;16864653;16895762;16908407;17114291;17636946;18089753;18171027;18446211;18803695;19147491;19413330;19663506;19818506;1999465;20068231;20430952;20511233;20975703;21289126;21898353;22658984;23186163;24275569;24715725;25255805;2540796;2550422;2558719;28671819;29242379;29493099;3006923;30315122;3164688;31844290;32103017;32157095;32161166;32350084;32387766;32938616;32983136;35580925;35930829;36241641;37296100;4772407;6264430;7512951;7525588;7526403;7644482;7670478;7678445;7682292;7777544;7983048;8494894;8626439;8692835;8706659;8798458;8812493;9119368;9188442;9325253;9353336;9430683;9459445;9506952;9525617;9580552;9712842", "class_list": "", "function": "Adds a myristoyl group to the N-terminal glycine residue of certain cellular and viral proteins (PubMed:25255805, PubMed:9506952). Also able to mediate N-terminal lysine myristoylation of proteins: catalyzes myristoylation of ARF6 on both 'Gly-2' and 'Lys-3' (PubMed:32103017). Lysine myristoylation is required to maintain ARF6 on membranes during the GTPase cycle (PubMed:32103017)., [UniProtKB, PubMed, PubMed, PubMed]; Adds a myristoyl group to the N-terminal glycine residue of certain cellular and viral proteins. Also able to mediate N-terminal lysine myristoylation of proteins: catalyzes myristoylation of ARF6 on both 'Gly-2' and 'Lys-3'. Lysine myristoylation is required to maintain ARF6 on membranes during the GTPase cycle., [UniProtKB, UniProtKB]; Adds a myristoyl group to the N-terminal glycine residue of certain cellular proteins., [UniProtKB, UniProtKB]; N-mytistoyltransferase 1 and 2 are potential tumor suppressors and novel targets of miR-182 in human non-small cell lung carcinomas., [RefSeq, PubMed]; Nef is preferentially myristoylated by NMT2, suggesting that selective inhibition of NMT2 may provide a novel means of blocking HIV virulence., [RefSeq, PubMed]; This gene encodes one of two N-myristoyltransferase proteins. N-terminal myristoylation is a lipid modification that is involved in regulating the function and localization of signaling proteins. The encoded protein catalyzes the addition of a myristoyl group to the N-terminal glycine residue of many signaling proteins, including the human immunodeficiency virus type 1 (HIV-1) proteins, Gag and Nef. 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": 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": 17, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ49;Q53Y38;Q5VUC8;Q9BRB4", "ec_number_list": [ { "id": "2.3.1.97", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.97", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "1.14.13.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39", "type": "external" } ], "go_molecular_function": "GO:0004379 glycylpeptide N-tetradecanoyltransferase activity;GO:0018030 peptidyl-lysine N6-myristoyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0043657 host cell", "go_biological_process": "GO:0018008 N-terminal peptidyl-glycine N-myristoylation;GO:0075733 intracellular transport of virus;GO:0072657 protein localization to membrane;GO:0022400 regulation of opsin-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "O60551-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95665-1", "uniprot_id": [ { "id": "NTR2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95665", "type": "external" } ], "mass": 45385.0, "length": 410, "protein_name": "Neurotensin receptor type 2", "gene_name": "NTSR2", "organism": "Human", "refseq_name": "neurotensin receptor type 2", "refseq_ac": [ { "id": "NP_036476", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036476", "type": "external" } ], "gene_names_uniprotkb": "NTSR2", "gene_names_refseq": "NTR2; NTSR2", "protein_names_uniprotkb": "Neurotensin receptor type 2; Levocabastine-sensitive neurotensin receptor; NT-R-2; NTR2", "protein_names_refseq": "NT-R-2; levocabastine-sensitive neurotensin receptor; neurotensin receptor type 2; neurotensin receptor, type 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23620); (R-HSA-375276); (R-HSA-416476)", "pathway_count": 3, "publication_count": 128, "publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11015615;11322507;11385580;11457843;11562423;11683476;11742120;11753430;11773063;11801734;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;16182515;16268778;16339447;1655761;16754659;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18515384;18577758;18936096;1905813;20048080;20058876;23446738;23690594;24906252;2649896;27496565;2841328;29059151;29242379;29557506;30770901;3086311;31154438;3202875;32764278;3366244;3525564;37962046;38480783;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8823230;9171878;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594", "class_list": "", "function": "A novel role of NTS in the development of Castration-resistant prostate cancer with Neuroendocrine differentiation (NED), and a possible strategy to prevent the onset of NED by targeting the NTS signaling pathway. Erratum:[Oncogene. 2019 Jun;38(24):4885. doi: 10.1038/s41388-019-0827-1. PMID: 31048775], [RefSeq, PubMed]; Characterisation of the Expression of Neurotensin and Its Receptors in Human Colorectal Cancer and Its Clinical Implications. Publication Status: Online-Only, [RefSeq, PubMed]; High NTSR2 expression is associated with B-cell chronic lymphocytic leukemia., [RefSeq, PubMed]; Physiological and Pathological Roles of NTSR2 in Several Organs and Diseases (Review). Review article, [RefSeq, PubMed]; Receptor for the tridecapeptide neurotensin. It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system., [UniProtKB]; Recycling ability depends on a single tyrosine residue, [RefSeq, PubMed]; Targeting the NTSR2/TrkB oncogenic pathway in chronic lymphocytic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the G protein-coupled receptor family that activate a phosphatidylinositol-calcium second messenger system. Binding and pharmacological studies demonstrate that this receptor binds neurotensin as well as several other ligands already described for neurotensin NT1 receptor. However, unlike NT1 receptor, this gene recognizes, with high affinity, levocabastine, a histamine H1 receptor antagonist previously shown to compete with neurotensin for low-affinity binding sites in brain. These activities suggest that this receptor may be of physiological importance and that a natural agonist for the receptor may exist. [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q53QQ5;Q57Z87;Q8IY58;Q8TBH6", "ec_number_list": [], "go_molecular_function": "GO:0016492 G protein-coupled neurotensin receptor activity;GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0007600 sensory perception", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "O95665-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95989-1", "uniprot_id": [ { "id": "NUDT3_HUMAN", "url": "https://www.uniprot.org/uniprot/O95989", "type": "external" } ], "mass": 19471.0, "length": 172, "protein_name": "Diphosphoinositol polyphosphate phosphohydrolase 1", "gene_name": "NUDT3", "organism": "Human", "refseq_name": "diphosphoinositol polyphosphate phosphohydrolase 1", "refseq_ac": [ { "id": "NP_006694", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006694", "type": "external" } ], "gene_names_uniprotkb": "NUDT3; DIPP1; DIPP", "gene_names_refseq": "DIPP-1; DIPP1; DIPP; NUDT3", "protein_names_uniprotkb": "Diphosphoinositol polyphosphate phosphohydrolase 1; 3.6.1.10; 3.6.1.52; 3.6.1.59; 3.6.1.61; 3.6.1.62; Ap6A hydrolase; DIPP-1; Diadenosine hexaphosphate hydrolase; Endopolyphosphatase; Nucleoside diphosphate-linked moiety X motif 3; Nudix motif 3; m7GpppN-mRNA hydrolase; m7GpppX diphosphatase", "protein_names_refseq": "ap6A hydrolase; diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 1; diadenosine hexaphosphate hydrolase; diphosphoinositol polyphosphate phosphohydrolase 1; endopolyphosphatase; m7GpppN-mRNA hydrolase; m7GpppX diphosphatase; nucleoside diphosphate-linked moiety X motif 3; nudix (nucleoside diphosphate linked moiety X)-type motif 3; nudix motif 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:11165); (R-HSA-1855167)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10419486;10585413;10777568;10827188;11042108;11502751;11909533;12084730;12105228;12121577;12370170;17412958;17690096;17702752;17705785;18355727;18981179;19585659;20068231;22119861;22869377;22898188;24714562;25576301;25892735;26154972;26932476;27600516;27846572;27862975;28832583;28834231;29242379;29557506;29769354;30429286;31154438;31848261;31998317;32157095;32350084;32387766;32488085;32727897;32938616;32983136;33475202;33592498;33717175;33912179;34357683;34788624;35051231;35251023;35580925;36284347;36581221;37466765;37938771;38665916;9822604", "class_list": "", "function": "Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate) and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction (PubMed:10585413, PubMed:12370170, PubMed:9822604). InsP6 (inositol hexakisphosphate) is not a substrate (PubMed:9822604). Acts as a negative regulator of the ERK1/2 pathway (By similarity). Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with diadenosine 5',5'''-P1,P6-hexaphosphate (Ap6A) and diadenosine 5',5'''- P1,P5-pentaphosphate (Ap5A) being the preferred substrates (PubMed:10419486, PubMed:12370170). The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A (PubMed:12370170). Also able to hydrolyze 5-phosphoribose 1-diphosphate (PubMed:12370170). Acts as a decapping enzyme that modulates the stability of a subset of mRNAs implicated in cell motility (PubMed:26932476). Hydrolyzes monomethylated capped RNA after both the alpha- and beta-phosphates generating m7GMP + ppRNA and m7GDP + pRNA (PubMed:32727897). Can hydrolyze unmethylated capped RNAs (By similarity). Divalent cations zinc, magnesium and manganese determine its substrate specificity (PubMed:34788624). Exhibits diphosphoinositol polyphosphate phosphohydrolase in the presence of magnesium ions, diadenosine hexaphosphate hydrolase activity in the presence of manganese ions and endopolyphosphatase activity in the presence of zinc ions (PubMed:34788624). Plays an important role in limiting DNA damage and maintaining cell survival upon oxidative stress via its endopolyphosphatase activity (PubMed:34788624)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed]; InsP7 is a small-molecule regulator of NUDT3-mediated mRNA decapping and processing-body dynamics., [RefSeq, PubMed]; NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions (Safrany et al., 1998 [PubMed 9822604]).[supplied by OMIM, Feb 2011]., [RefSeq]; New structural insights reveal an expanded reaction cycle for inositol pyrophosphate hydrolysis by human DIPP1., [RefSeq, PubMed]; Polyphosphate degradation by Nudt3-Zn(2+) mediates oxidative stress response., [RefSeq, PubMed]; Uterine leiomyoma with RAD51B::NUDT3 fusion: a report of 2 cases., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2R8N4", "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": "3.6.1.59", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.59", "type": "external" }, { "id": "3.6.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.52", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" }, { "id": "3.6.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.10", "type": "external" }, { "id": "3.6.1.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.61", "type": "external" }, { "id": "3.6.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.60", "type": "external" }, { "id": "3.6.1.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.64", "type": "external" } ], "go_molecular_function": "GO:0000298 endopolyphosphatase activity;GO:0008486 diphosphoinositol-polyphosphate diphosphatase activity;GO:0034431 bis(5'-adenosyl)-hexaphosphatase activity;GO:0034432 bis(5'-adenosyl)-pentaphosphatase activity;GO:0052840 inositol diphosphate tetrakisphosphate diphosphatase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0015961 diadenosine polyphosphate catabolic process;GO:0071543 diphosphoinositol polyphosphate metabolic process;GO:0071544 diphosphoinositol polyphosphate catabolic process;GO:1901907 diadenosine pentaphosphate catabolic process;GO:1901909 diadenosine hexaphosphate catabolic process", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "O95989-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01138-1", "uniprot_id": [ { "id": "NGF_HUMAN", "url": "https://www.uniprot.org/uniprot/P01138", "type": "external" } ], "mass": 26959.0, "length": 241, "protein_name": "Beta-nerve growth factor", "gene_name": "NGF", "organism": "Human", "refseq_name": "beta-nerve growth factor precursor", "refseq_ac": [ { "id": "NP_002497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002497", "type": "external" } ], "gene_names_uniprotkb": "NGF; NGFB", "gene_names_refseq": "Beta-NGF; HSAN5; NGFB; NGF", "protein_names_uniprotkb": "Beta-nerve growth factor; Beta-NGF", "protein_names_refseq": "beta-nerve growth factor precursor; beta-nerve growth factor; nerve growth factor (beta polypeptide); nerve growth factor, beta subunit; pro-nerve growth factor long", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); obstructive sleep apnea (Disease Ontology:DOID:0050848); stroke (Disease Ontology:DOID:0051061); chronic pancreatitis (Disease Ontology:DOID:0051065); withdrawal disorder (Disease Ontology:DOID:0060001); hereditary sensory and autonomic neuropathy type 5 (Disease Ontology:DOID:0070145); overactive bladder syndrome (Disease Ontology:DOID:0070355); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); chronic asthma (Disease Ontology:DOID:0080809); Parkinsonism (Disease Ontology:DOID:0080855); traumatic brain injury (Disease Ontology:DOID:0081292); sensorineural hearing loss (Disease Ontology:DOID:10003); retinitis pigmentosa (Disease Ontology:DOID:10584); Alzheimer's disease (Disease Ontology:DOID:10652); separation anxiety disorder (Disease Ontology:DOID:10685); hypertension (Disease Ontology:DOID:10763); cryptorchidism (Disease Ontology:DOID:11383); neurogenic bladder (Disease Ontology:DOID:12143); respiratory syncytial virus infectious disease (Disease Ontology:DOID:1273); pulmonary sarcoidosis (Disease Ontology:DOID:13406); bladder neck obstruction (Disease Ontology:DOID:13948); interstitial cystitis (Disease Ontology:DOID:13949); hypothyroidism (Disease Ontology:DOID:1459); alcohol use disorder (Disease Ontology:DOID:1574); depressive disorder (Disease Ontology:DOID:1596); cystitis (Disease Ontology:DOID:1679); glaucoma (Disease Ontology:DOID:1686); atherosclerosis (Disease Ontology:DOID:1936); opiate dependence (Disease Ontology:DOID:2559); morphine dependence (Disease Ontology:DOID:2560); asthma (Disease Ontology:DOID:2841); glomerulonephritis (Disease Ontology:DOID:2921); IgA glomerulonephritis (Disease Ontology:DOID:2986); interstitial lung disease (Disease Ontology:DOID:3082); atopic dermatitis (Disease Ontology:DOID:3310); bipolar disorder (Disease Ontology:DOID:3312); coronary artery disease (Disease Ontology:DOID:3393); middle cerebral artery infarction (Disease Ontology:DOID:3525); pulmonary fibrosis (Disease Ontology:DOID:3770); systemic scleroderma (Disease Ontology:DOID:418); myofascial pain syndrome (Disease Ontology:DOID:431); rhinitis (Disease Ontology:DOID:4483); borna disease (Disease Ontology:DOID:5154); schizophrenia (Disease Ontology:DOID:5419); myocardial infarction (Disease Ontology:DOID:5844); end stage renal disease (Disease Ontology:DOID:783); osteoarthritis (Disease Ontology:DOID:8398); diabetic retinopathy (Disease Ontology:DOID:8947); degenerative disc disease (Disease Ontology:DOID:90); hyperhomocysteinemia (Disease Ontology:DOID:9279); bacterial meningitis (Disease Ontology:DOID:9470); cannabis abuse (Disease Ontology:DOID:9505); diabetic neuropathy (Disease Ontology:DOID:9743); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976)", "pathway": " (hsa:4803); (R-HSA-1257604); (R-HSA-167021); (R-HSA-167044); (R-HSA-167060); (R-HSA-170968); (R-HSA-170984); (R-HSA-177504); (R-HSA-187042); (R-HSA-187706); (R-HSA-193648); (R-HSA-193670); (R-HSA-193681); (R-HSA-198203); (R-HSA-198745); (R-HSA-205017); (R-HSA-205025); (R-HSA-205043); (R-HSA-209543); (R-HSA-209560); (R-HSA-209563)", "pathway_count": 21, "publication_count": 95, "publication_id_list": "10.1038/emboj.2013.79;10022904;10191262;10322959;10391209;10490030;10629055;10747026;10764727;11147812;11157096;11237011;11244088;11278287;11278445;11466412;11487608;11729324;11756498;11803464;11830582;12040181;12097334;12167717;12676795;12692556;12767043;12787574;14673001;14960584;14976160;14985763;15014171;15128850;15131306;15465037;15470142;15496460;15710408;15718470;16252010;16284401;16630834;16939974;17081983;17196528;17245604;1849459;1850549;18925875;19279408;19805105;20164177;2025430;20338997;20978020;21779496;21816277;21827948;22065583;22302274;22569528;23584533;23669310;2374737;25468936;25729923;27503831;28076410;38203537;38387191;38441774;38646645;38785989;6327169;6688123;7637810;7744773;7806500;7954816;8387505;8599092;8615794;8645157;8810325;8837778;9182757;9195882;9252186;9520479;9560161;9575168;9736715;9895304;9915784", "class_list": "", "function": "HDAC6-dependent deacetylation of NGF dictates its ubiquitination and maintains primordial follicle dormancy. Publication Status: Online-Only, [RefSeq, PubMed]; Innervation pattern of the unclosed detrusor muscle in classic bladder exstrophy: a study of patients with urothelial overexpression of nerve growth factor. Publication Status: Online-Only, [RefSeq, PubMed]; Level of Secretion and the Role of the Nerve Growth Factor in Patients with Keratoconus before and after Collagen Fibre Cross-Linking Surgery. Publication Status: Online-Only, [RefSeq, PubMed]; NGF facilitates ICAM-1-dependent monocyte adhesion and M1 macrophage polarization in rheumatoid arthritis., [RefSeq, PubMed]; Nerve Bundle Density and Expression of NGF and IL-1beta Are Intra-Individually Heterogenous in Subtypes of Endometriosis. Publication Status: Online-Only, [RefSeq, PubMed]; Nerve growth factor is important for the development and maintenance of the sympathetic and sensory nervous systems (PubMed:14976160, PubMed:20978020). Extracellular ligand for the NTRK1 and NGFR receptors, activates cellular signaling cascades to regulate neuronal proliferation, differentiation and survival (Probable) (PubMed:20978020). The immature NGF precursor (proNGF) functions as a ligand for the heterodimeric receptor formed by SORCS2 and NGFR, and activates cellular signaling cascades that lead to inactivation of RAC1 and/or RAC2, reorganization of the actin cytoskeleton and neuronal growth cone collapse. In contrast to mature NGF, the precursor form (proNGF) promotes neuronal apoptosis (in vitro) (By similarity). Inhibits metalloproteinase-dependent proteolysis of platelet glycoprotein VI (PubMed:20164177). Binds lysophosphatidylinositol and lysophosphatidylserine between the two chains of the homodimer. The lipid-bound form promotes histamine relase from mast cells, contrary to the lipid-free form (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; This gene is a member of the NGF-beta family and encodes a secreted protein which homodimerizes and is incorporated into a larger complex. This protein has nerve growth stimulating activity and the complex is involved in the regulation of growth and the differentiation of sympathetic and certain sensory neurons. Mutations in this gene have been associated with hereditary sensory and autonomic neuropathy, type 5 (HSAN5), and dysregulation of this gene's expression is associated with allergic rhinitis. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 55, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A1A4E5;Q6FHA0;Q96P60;Q9P2Q8;Q9UKL8", "ec_number_list": [], "go_molecular_function": "GO:0008289 lipid binding;GO:0008083 growth factor activity;GO:0030297 transmembrane receptor protein tyrosine kinase activator activity;GO:0005163 nerve growth factor receptor binding;GO:0008191 metalloendopeptidase inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0005829 cytosol;GO:0031904 endosome lumen", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0008285 negative regulation of cell population proliferation;GO:0010628 positive regulation of gene expression;GO:0045666 positive regulation of neuron differentiation", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "P01138-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DN82-1", "uniprot_id": [ { "id": "O12D1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DN82", "type": "external" } ], "mass": 36420.0, "length": 320, "protein_name": "Olfactory receptor 12D1", "gene_name": "OR12D1", "organism": "Human", "refseq_name": "olfactory receptor 12D1", "refseq_ac": [ { "id": "NP_001335137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335137", "type": "external" } ], "gene_names_uniprotkb": "OR12D1; OR12D1P", "gene_names_refseq": "OR12D1P; OR12D1; hs6M1-19", "protein_names_uniprotkb": "Olfactory receptor 12D1", "protein_names_refseq": "olfactory receptor 12D1 pseudogene; olfactory receptor 12D1; olfactory receptor, family 12, subfamily D, member 1 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:26530)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "22908908", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "P0DN82-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14543-1", "uniprot_id": [ { "id": "NID1_HUMAN", "url": "https://www.uniprot.org/uniprot/P14543", "type": "external" } ], "mass": 136377.0, "length": 1247, "protein_name": "Nidogen-1", "gene_name": "NID1", "organism": "Human", "refseq_name": "nidogen-1 precursor", "refseq_ac": [ { "id": "NP_002499", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002499", "type": "external" } ], "gene_names_uniprotkb": "NID1; NID", "gene_names_refseq": "NID1; NID", "protein_names_uniprotkb": "Nidogen-1; Entactin; NID-1", "protein_names_refseq": "NID-1; enactin; entactin; epididymis secretory sperm binding protein; nidogen-1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:4811); (R-HSA-1474228); (R-HSA-3000157)", "pathway_count": 3, "publication_count": 139, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10229672;10386589;10706100;10809722;10986281;11054877;11375993;11872628;11964076;12237301;12727852;12843408;14973287;15234972;15591058;15958533;16133547;16413178;1649600;16574105;16581764;16631740;16825321;16959974;1698775;1707285;17332331;17354228;17608959;18434311;18512783;18658137;19010778;1906509;19571574;19657146;19714641;20112406;20142769;21030783;21297635;21441952;21654843;21670566;21784848;21864727;22028470;22159414;22299025;22493504;22645359;23035980;23584533;23845380;2471408;24715725;25418920;25502872;2574658;25813380;25880248;25892735;26024233;26154972;26811146;27600516;27726376;27846572;27862975;27920218;28218747;28228285;28467828;28514659;28832583;28855257;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29786170;29789417;30315122;30429286;30459171;30573663;30626607;31154438;31217245;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32502341;32983136;33091337;33298915;33392160;33592498;33735110;33890711;33912179;33936100;34357683;34411563;34433824;34932366;35051231;35154160;35289036;35580925;35963565;36010968;36218358;36271454;37938771;38665916;3997977;7075587;7547873;7557988;8226919;8606061;8626565;9065415;9115292;9148753;9245798;9461298;9645947;9852107", "class_list": "", "function": "Human Cytomegalovirus Utilizes Multiple Viral Proteins to Regulate the Basement Membrane Protein Nidogen 1., [RefSeq, PubMed]; Loss of enteric neuronal Ndrg4 promotes colorectal cancer via increased release of Nid1 and Fbln2., [RefSeq, PubMed]; Nidogen-1 could play a role in diabetic kidney disease development in type 2 diabetes: a genome-wide association meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Nidogen-1 expression is associated with overall survival and temozolomide sensitivity in low-grade glioma patients., [RefSeq, PubMed]; Obesity impairs skeletal muscle repair through NID-1 mediated extracellular matrix remodeling by mesenchymal progenitors., [RefSeq, PubMed]; Sulfated glycoprotein widely distributed in basement membranes and tightly associated with laminin. Also binds to collagen IV and perlecan. It probably has a role in cell-extracellular matrix interactions., [UniProtKB]; This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [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": 3, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 18, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 19, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 19, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 72, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "Q14942;Q59FL2;Q5TAF2;Q5TAF3;Q86XD7", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005518 collagen binding;GO:0043236 laminin binding;GO:0043394 proteoglycan binding;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome;GO:0005604 basement membrane", "go_biological_process": "GO:0045785 positive regulation of cell adhesion;GO:0007160 cell-matrix adhesion;GO:0051149 positive regulation of muscle cell differentiation;GO:2001046 positive regulation of integrin-mediated signaling pathway;GO:0071711 basement membrane organization", "synthesized_glycan_count": 0, "hit_score": 16.6, "record_id": "P14543-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50391-1", "uniprot_id": [ { "id": "NPY4R_HUMAN", "url": "https://www.uniprot.org/uniprot/P50391", "type": "external" } ], "mass": 42142.0, "length": 375, "protein_name": "Neuropeptide Y receptor type 4", "gene_name": "NPY4R", "organism": "Human", "refseq_name": "neuropeptide Y receptor type 4", "refseq_ac": [ { "id": "NP_001265723", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265723", "type": "external" } ], "gene_names_uniprotkb": "NPY4R; PPYR1", "gene_names_refseq": "NPY4-R; NPY4R; PP1; PPYR1; Y4", "protein_names_uniprotkb": "Neuropeptide Y receptor type 4; NPY4-R; PP1; Pancreatic polypeptide receptor 1", "protein_names_refseq": "neuropeptide Y receptor type 4; pancreatic polypeptide receptor 1", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:100996758); (hsa:5540); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 4, "publication_count": 113, "publication_id_list": "10.1101/2023.09.13.557529;10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11322507;11385580;11457843;11562423;11683476;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;23446738;23690594;24906252;2534964;2649896;26921218;2748346;27496565;27818291;2834384;29621259;31937595;3202875;3366244;33782920;3525564;3856870;6274691;6281660;6373251;6589611;7057924;7493937;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;8643460;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "A copy number variation (CNV) analysis demonstrated a significantly higher frequency of NPY4R containing 10q11.22 CNV loss in the patient population, while CNV gain in this region was more prevalent in the control population. Mutation analysis resulted in the identification of 15 rare non-synonymous heterozygous variants. Two variants in the patient population demonstrated receptor dysfunction and a pathogenic effect., [RefSeq, PubMed]; G protein-coupled receptor for PPY/pancreatic polypeptide/PP, NPY/neuropeptide Y and PYY/peptide YY that is negatively coupled to cAMP (PubMed:7493937, PubMed:7592911). The rank order of affinity for these polypeptides and their derivatives is PP, PP (2-36) and [Ile-31, Gln-34] PP > [Pro-34] PYY > PYY and [Leu-31, Pro-34] NPY > NPY > PYY (3-36) and NPY (2-36) > PP (13-36) > PP (31-36) > NPY free acid., [UniProtKB, PubMed, PubMed]; Our results suggest that NPY4R genetic variation influences body weight in women, but the exact role of this receptor appears to be more complex than previously proposed. Erratum:[PLoS One. 2022 Oct 12;17(10):e0276288. doi: 10.1371/journal.pone.0276288. PMID: 36223423] Publication Status: Online-Only, [RefSeq, PubMed]; The internalization motif for the human neuropeptide Y4 receptor, which regulates arrestin-3 recruitment and receptor endocytosis, was identified., [RefSeq, PubMed]; Theoretical study of the interactions between peptide tyrosine tyrosine [PYY (1-36)], a newly identified modulator in type 2 diabetes pathophysiology, with receptors NPY1R and NPY4R., [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": 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": 28, "reported_interactions": 0, "missing_score": 9835, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q13456;Q5ISU3;Q5T2X9;Q6FH06", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0017046 peptide hormone binding;GO:0001601 peptide YY receptor activity;GO:0001602 pancreatic polypeptide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway", "synthesized_glycan_count": 0, "hit_score": 11.6, "record_id": "P50391-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58181-1", "uniprot_id": [ { "id": "O10A3_HUMAN", "url": "https://www.uniprot.org/uniprot/P58181", "type": "external" } ], "mass": 35535.0, "length": 314, "protein_name": "Olfactory receptor 10A3", "gene_name": "OR10A3", "organism": "Human", "refseq_name": "olfactory receptor 10A3", "refseq_ac": [ { "id": "NP_001003745", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003745", "type": "external" } ], "gene_names_uniprotkb": "OR10A3", "gene_names_refseq": "HSHTPCRX12; HTPCRX12; OR10A3", "protein_names_uniprotkb": "Olfactory receptor 10A3; HTPCRX12; Olfactory receptor OR11-97", "protein_names_refseq": "olfactory receptor 10A3; olfactory receptor OR11-97", "tax_id": 9606, "disease": "", "pathway": " (hsa:26496); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "1370859;14983052;24800820;27515280;30418433;31974307;32066986;36552724", "class_list": "", "function": "Activation of OR10A3 by Suberic Acid Promotes Collagen Synthesis in UVB-Irradiated Dermal Fibroblasts via the cAMP-Akt Pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": "B9EH39;Q6IF58;Q96R11", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007608 sensory perception of smell;GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "P58181-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08J23-1", "uniprot_id": [ { "id": "NSUN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08J23", "type": "external" } ], "mass": 86471.0, "length": 767, "protein_name": "RNA cytosine C(5)-methyltransferase NSUN2", "gene_name": "NSUN2", "organism": "Human", "refseq_name": "RNA cytosine C(5)-methyltransferase NSUN2 isoform 2", "refseq_ac": [ { "id": "NP_001180384", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180384", "type": "external" } ], "gene_names_uniprotkb": "NSUN2; SAKI; TRM4", "gene_names_refseq": "MISU; MRT5; NSUN2; SAKI; TRM4", "protein_names_uniprotkb": "RNA cytosine C(5)-methyltransferase NSUN2; 2.1.1.-; 2.1.1.203; Misu; Myc-induced SUN domain-containing protein; NOL1/NOP2/Sun domain family member 2; Substrate of AIM1/Aurora kinase B; hTrm4; mRNA cytosine C(5)-methyltransferase; tRNA cytosine C(5)-methyltransferase; tRNA methyltransferase 4 homolog", "protein_names_refseq": "5-methycytoisine methyltransferase; Myc-induced SUN-domain-containing protein; NOL1/NOP2/Sun domain family, member 2; NOP2/Sun RNA methyltransferase family member 2; RNA cytosine C(5)-methyltransferase NSUN2 isoform 2; RNA cytosine C(5)-methyltransferase NSUN2; mRNA cytosine C(5)-methyltransferase; myc-induced SUN domain-containing protein; substrate of AIM1/Aurora kinase B; tRNA (cytosine(34)-C(5))-methyltransferase; tRNA (cytosine-5-)-methyltransferase NSUN2; tRNA cytosine C(5)-methyltransferase; tRNA methyltransferase 4 homolog", "tax_id": 9606, "disease": "autosomal recessive intellectual developmental disorder 5 (Disease Ontology:DOID:0081181)", "pathway": " (hsa:54888); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 165, "publication_id_list": "10.1101/2023.09.13.557529;10430867;10982862;11027153;11111046;11237011;12403464;15302935;15345747;15861136;15870694;15994936;16043508;16424344;16964243;17071714;17081983;17215513;17287340;18212344;18220336;18452278;18491316;18567810;18669648;19017811;19413330;19414587;19415658;19562805;19596847;19651622;19664994;19664995;19690332;20068230;20068231;20123966;20166139;20308323;20354154;20584901;21059936;21131277;21406692;21908771;22344696;22395603;22541559;22541562;22591353;22995836;23042678;23048041;23186163;23301498;23381944;23481700;23604283;23871666;24126054;24204302;24275569;24714562;24715725;24901367;25218447;25233213;25261850;25404562;25505266;25576301;25645385;25916855;26154972;26160102;26310293;26728094;26992070;27055666;27600516;27862975;27920218;28218747;28228285;28418038;28510447;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29741879;29786170;29789417;30315122;30429286;30833945;31092671;31154438;31186410;31199786;31217245;31222486;31276587;31287866;31358969;31481669;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34357683;34405274;34509645;34556860;34561969;34725712;34932366;35051231;35580925;36010968;36215666;36241641;36284347;36610787;37217939;38387687;38403250;38411298;38665916;38764010;38844963;40914422;9430663;9851972", "class_list": "", "function": "5-Methylcytosine transferase NSUN2 drives NRF2-mediated ferroptosis resistance in non-small cell lung cancer., [RefSeq, PubMed]; First report showing intron-dependent methylation of human pre-tRNA Leu(CAA) and identification of human gene encoding tRNA methylase(Trm4) responsible for this reaction., [RefSeq, PubMed]; LncRNA HOST2 promotes NSUN2-mediated breast cancer progression via interaction with ELAVL1., [RefSeq, PubMed]; NSUN2 affects diabetic retinopathy progression by regulating MUC1 expression through RNA m[5]C methylation. Publication Status: Online-Only, [RefSeq, PubMed]; NSUN2 promotes lung adenocarcinoma progression through stabilizing PIK3R2 mRNA in an m[5]C-dependent manner., [RefSeq, PubMed]; NSUN2/YBX1 promotes the progression of breast cancer by enhancing HGH1 mRNA stability through m[5]C methylation. Publication Status: Online-Only, [RefSeq, PubMed]; RNA cytosine C(5)-methyltransferase that methylates cytosine to 5-methylcytosine (m5C) in various RNAs, such as tRNAs, mRNAs and some long non-coding RNAs (lncRNAs) (PubMed:17071714, PubMed:22995836, PubMed:31199786, PubMed:31358969). Involved in various processes, such as epidermal stem cell differentiation, testis differentiation and maternal to zygotic transition during early development: acts by increasing protein synthesis; cytosine C(5)-methylation promoting tRNA stability and preventing mRNA decay (PubMed:31199786). Methylates cytosine to 5-methylcytosine (m5C) at positions 34 and 48 of intron-containing tRNA(Leu)(CAA) precursors, and at positions 48, 49 and 50 of tRNA(Gly)(GCC) precursors (PubMed:17071714, PubMed:22995836, PubMed:31199786). tRNA methylation is required generation of RNA fragments derived from tRNAs (tRFs) (PubMed:31199786). Also mediates C(5)-methylation of mitochondrial tRNAs (PubMed:31276587). Catalyzes cytosine C(5)-methylation of mRNAs, leading to stabilize them and prevent mRNA decay: mRNA stabilization involves YBX1 that specifically recognizes and binds m5C-modified transcripts (PubMed:22395603, PubMed:31358969, PubMed:34556860). Cytosine C(5)-methylation of mRNAs also regulates mRNA export: methylated transcripts are specifically recognized by THOC4/ALYREF, which mediates mRNA nucleo-cytoplasmic shuttling (PubMed:28418038). Also mediates cytosine C(5)-methylation of non-coding RNAs, such as vault RNAs (vtRNAs), promoting their processing into regulatory small RNAs (PubMed:23871666). Cytosine C(5)-methylation of vtRNA VTRNA1.1 promotes its processing into small-vault RNA4 (svRNA4) and regulates epidermal differentiation (PubMed:31186410). May act downstream of Myc to regulate epidermal cell growth and proliferation (By similarity). Required for proper spindle assembly and chromosome segregation, independently of its methyltransferase activity (PubMed:19596847)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; These results indicate that Aurora-B participates to regulate the assembly of nucleolar RNA-processing machinery and the RNA methyltransferase activity of NSUN2 via phosphorylation at Ser139 during mitosis., [RefSeq, PubMed]; This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 15, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K529;B2RNR4;B3KP09;B4DQW2;G3V1R4;Q9BVN4;Q9H858;Q9NXD9", "ec_number_list": [ { "id": "2.1.1.203", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.203", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0016428 tRNA (cytidine-5-)-methyltransferase activity;GO:0003723 RNA binding;GO:0000049 tRNA binding;GO:0062152 mRNA (cytidine-5-)-methyltransferase activity;GO:0008173 RNA methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0048820 hair follicle maturation;GO:0033313 meiotic cell cycle checkpoint signaling;GO:0006397 mRNA processing;GO:0051301 cell division;GO:0006400 tRNA modification", "synthesized_glycan_count": 0, "hit_score": 17.2, "record_id": "Q08J23-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14112-1", "uniprot_id": [ { "id": "NID2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14112", "type": "external" } ], "mass": 151254.0, "length": 1375, "protein_name": "Nidogen-2", "gene_name": "NID2", "organism": "Human", "refseq_name": "nidogen-2 precursor", "refseq_ac": [ { "id": "NP_031387", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031387", "type": "external" } ], "gene_names_uniprotkb": "NID2", "gene_names_refseq": "NID-2; NID2", "protein_names_uniprotkb": "Nidogen-2; NID-2; Osteonidogen", "protein_names_refseq": "nidogen-2 precursor; osteonidogen", "tax_id": 9606, "disease": "", "pathway": " (hsa:22795); (R-HSA-3000157)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11054877;11237011;11733994;11956183;11964076;12005023;12237301;16413178;16581764;16959974;18566446;19117535;19159218;22493504;22905912;23090970;23584533;24190977;25576301;25645385;26811146;29242379;29278876;29331515;29557506;29741879;29786170;30429286;30459171;31844290;31848261;32337544;32472113;32938616;33141586;33592498;33758160;34019948;34315224;34411563;34593672;35051231;36284347;37074911;37938771;38253038;38665916;38935278;3997977;9245798;9645947;9733643", "class_list": "", "function": "A pilot proteomic study with a prospective cohort suspected to develop preeclampsia., [RefSeq, PubMed]; Association of NID2 SNPs with Glioma Risk and Prognosis in the Chinese Population. Publication Status: Online-Only, [RefSeq, PubMed]; Cell adhesion glycoprotein which is widely distributed in basement membranes. Binds to collagens I and IV, to perlecan and to laminin 1. Does not bind fibulins. It probably has a role in cell-extracellular matrix interactions., [UniProtKB]; Found to be ubiquitous component of basement membrane zones underneath developing epithelia of most of the major organ systems; may participate in cell biological functions during human development, [RefSeq, PubMed]; Genome-Scale Analysis Identified NID2, SPARC, and MFAP2 as Prognosis Markers of Overall Survival in Gastric Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Nidogen-2 Maintains the Contractile Phenotype of Vascular Smooth Muscle Cells and Prevents Neointima Formation via Bridging Jagged1-Notch3 Signaling., [RefSeq, PubMed]; Nidogen-2: A new biomarker in colon cancer patients., [RefSeq, PubMed]; Short arm region of laminin-5 gamma2 chain: structure, mechanism of processing and binding to heparin, nidogen-1, fibulin-1 and fibulin-2, [RefSeq, PubMed]; This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.[provided by RefSeq, Jun 2010]., [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": 5, "reported_o_glycosites": 3, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 35, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 35, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 35, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 3, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 97, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "diagnostic", "glycan_count": 114, "disease_count": 0, "glyco_site_count": 43, "binding_glycan_count": 0, "secondary_ac_list": "A8K6I7;B4DU19;O43710", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0005518 collagen binding;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007155 cell adhesion;GO:0007160 cell-matrix adhesion;GO:0071711 basement membrane organization", "synthesized_glycan_count": 0, "hit_score": 20.9, "record_id": "Q14112-1", "record_type": "protein", "filter_code": "1000000.1000101.010000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14916-1", "uniprot_id": [ { "id": "NPT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14916", "type": "external" } ], "mass": 51132.0, "length": 467, "protein_name": "Sodium-dependent phosphate transport protein 1", "gene_name": "SLC17A1", "organism": "Human", "refseq_name": "sodium-dependent phosphate transport protein 1", "refseq_ac": [ { "id": "NP_005065", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005065", "type": "external" } ], "gene_names_uniprotkb": "SLC17A1; NPT1", "gene_names_refseq": "NAPI-1; NPT-1; NPT1; SLC17A1", "protein_names_uniprotkb": "Sodium-dependent phosphate transport protein 1; Na(+)/PI cotransporter 1; Na/Pi-4; Renal Na(+)-dependent phosphate cotransporter 1; Renal sodium-dependent phosphate transport protein 1; Renal sodium-phosphate transport protein 1; Sodium/phosphate cotransporter 1; Solute carrier family 17 member 1", "protein_names_refseq": "Na(+)/PI cotransporter 1; na/Pi-4; renal Na(+)-dependent phosphate cotransporter 1; renal sodium-dependent phosphate transport protein 1; renal sodium-phosphate transport protein 1; sodium phosphate transporter; sodium-dependent phosphate transport protein 1; sodium/phosphate cotransporter 1; sodium/phosphate type I cotransporter; solute carrier family 17 (organic anion transporter), member 1; solute carrier family 17 (sodium phosphate), member 1; solute carrier family 17 (vesicular glutamate transporter), member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:6568); (R-HSA-427652)", "pathway_count": 2, "publication_count": 16, "publication_id_list": "10516278;11237011;11704559;2078500;25252215;26663070;27899376;27906618;29557506;32387766;35051231;38222853;7826357;8288239;8302848;9545579", "class_list": "", "function": "A meta-analysis of all gout with Japanese, Caucasian and NZ Polynesian populations revealed that rs2285340 of SLC22A12 and rs1165196 of SLC17A1 showed a significant association but did not reach a genome-wide significance level., [RefSeq, PubMed]; Data suggest that single nucleotide polymorphisms (SNPs) rs9467596 and rs2096386 of the solute carrier family 17 (sodium phosphate), member 1 protein (SLC17A1) gene may have a correlation between hyperuricemia and alcohol drinking among Uygur patients., [RefSeq, PubMed]; Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout. Publication Status: Online-Only, [RefSeq, PubMed]; I269T, a common missense variant of NPT1, might have faster conformation changes than NPT1 wild type in terms of the alternating-access model of transporters, and increases renal urate export in humans., [RefSeq, PubMed]; Important for the resorption of phosphate by the kidney (PubMed:7826357). May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane (PubMed:7826357). Plays a role in urate transport in the kidney (PubMed:25252215, PubMed:27906618)., [UniProtKB, 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K418;O60761;Q13783;Q3MIP5;Q5MJP8;Q5TB83;Q96KL8", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0005436 sodium:phosphate symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016324 apical plasma membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0046415 urate metabolic process;GO:0006817 phosphate ion transport;GO:0035435 phosphate ion transmembrane transport;GO:0015747 urate transport;GO:0044341 sodium-dependent phosphate transport", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q14916-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16620-1", "uniprot_id": [ { "id": "NTRK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16620", "type": "external" } ], "mass": 91999.0, "length": 822, "protein_name": "BDNF/NT-3 growth factors receptor", "gene_name": "NTRK2", "organism": "Human", "refseq_name": "BDNF/NT-3 growth factors receptor isoform b precursor", "refseq_ac": [ { "id": "NP_001007098", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007098", "type": "external" } ], "gene_names_uniprotkb": "NTRK2; TRKB", "gene_names_refseq": "DEE58; EIEE58; GP145-TrkB; NTRK2; OBHD; TRKB; trk-B", "protein_names_uniprotkb": "BDNF/NT-3 growth factors receptor; 2.7.10.1; GP145-TrkB; Neurotrophic tyrosine kinase receptor type 2; Trk-B; TrkB tyrosine kinase; Tropomyosin-related kinase B", "protein_names_refseq": "BDNF-tropomyosine receptor kinase B; BDNF/NT-3 growth factors receptor isoform b precursor; BDNF/NT-3 growth factors receptor; neurotrophic tyrosine kinase receptor type 2; tropomyosin-related kinase B; tyrosine kinase receptor B", "tax_id": 9606, "disease": "idiopathic pulmonary fibrosis (Disease Ontology:DOID:0050156); alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); stroke (Disease Ontology:DOID:0051061); colitis (Disease Ontology:DOID:0060180); developmental and epileptic encephalopathy 58 (Disease Ontology:DOID:0080285); Parkinsonism (Disease Ontology:DOID:0080855); traumatic brain injury (Disease Ontology:DOID:0081292); Alzheimer's disease (Disease Ontology:DOID:10652); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); morbid obesity (Disease Ontology:DOID:11981); trigeminal neuralgia (Disease Ontology:DOID:12098); autistic disorder (Disease Ontology:DOID:12849); 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); glaucoma (Disease Ontology:DOID:1686); epilepsy (Disease Ontology:DOID:1826); anxiety disorder (Disease Ontology:DOID:2030); post-traumatic stress disorder (Disease Ontology:DOID:2055); transient cerebral ischemia (Disease Ontology:DOID:224); morphine dependence (Disease Ontology:DOID:2560); bipolar disorder (Disease Ontology:DOID:3312); temporal lobe epilepsy (Disease Ontology:DOID:3328); middle cerebral artery infarction (Disease Ontology:DOID:3525); cerebral infarction (Disease Ontology:DOID:3526); borna disease (Disease Ontology:DOID:5154); intestinal disease (Disease Ontology:DOID:5295); schizophrenia (Disease Ontology:DOID:5419); congestive heart failure (Disease Ontology:DOID:6000); amphetamine abuse (Disease Ontology:DOID:670); vascular dementia (Disease Ontology:DOID:8725); cannabis abuse (Disease Ontology:DOID:9505); diabetic neuropathy (Disease Ontology:DOID:9743); cocaine dependence (Disease Ontology:DOID:9975); heroin dependence (Disease Ontology:DOID:9976); obesity, hyperphagia, and developmental delay (MONDO:MONDO:0013483)", "pathway": " (hsa:4915); (R-HSA-1257604); (R-HSA-187024); (R-HSA-2219530); (R-HSA-6811558); (R-HSA-9024909); (R-HSA-9025046); (R-HSA-9026357); (R-HSA-9026519); (R-HSA-9026527); (R-HSA-9028335); (R-HSA-9028731); (R-HSA-9032500); (R-HSA-9032759); (R-HSA-9032845)", "pathway_count": 15, "publication_count": 95, "publication_id_list": "10.1101/2023.09.13.557529;10092678;10191262;10196222;10388563;10533983;10579907;11147812;11237011;11738045;11798182;11803464;12167717;12767043;1325671;15494731;15718470;15834429;16335952;16339315;16456541;16647110;16805430;17200115;17341134;17344846;17626883;18079394;18293376;18317450;18594509;18606717;18754654;18755892;18829560;18925875;19185485;19411071;19576174;19644473;19805105;19962665;20193039;20231295;20338997;20368433;20522708;20713702;21188471;21317208;21368164;21478295;21668414;21827948;21976531;21984976;22120714;22188813;22299025;22588880;22802530;23090970;24116072;24190977;24470253;26284337;27884935;28012455;28657654;29100083;29242379;29391424;29671580;29741879;31844290;32350084;33392160;34171305;35051231;35840571;37074911;38008209;38480783;38561734;39039193;7574684;7637810;7744773;7789988;7823156;7936202;8645157;8657148;9736715;9895304", "class_list": "", "function": "Analysis of TrkB gene reveals novel gene length and splicing mechanism, [RefSeq, PubMed]; Atypical cellular responses mediated by intracellular constitutive active TrkB (NTRK2) kinase domains and a solely intracellular NTRK2-fusion oncogene., [RefSeq, PubMed]; Childhood urbanicity is associated with emotional episodic memory-related striatal function and common variation in NTRK2. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of 36 potential TrkB protein isoforms suggests high complexity in the synthesis, regulation and function of this important neurotrophin receptor emphasizing the need for further study of these novel TrkB variants., [RefSeq, PubMed]; Receptor tyrosine kinase involved in the development and the maturation of the central and the peripheral nervous systems through regulation of neuron survival, proliferation, migration, differentiation, and synapse formation and plasticity (By similarity). Receptor for BDNF/brain-derived neurotrophic factor and NTF4/neurotrophin-4. Alternatively can also bind NTF3/neurotrophin-3 which is less efficient in activating the receptor but regulates neuron survival through NTRK2 (PubMed:15494731, PubMed:7574684). Upon ligand-binding, undergoes homodimerization, autophosphorylation and activation (PubMed:15494731). Recruits, phosphorylates and/or activates several downstream effectors including SHC1, FRS2, SH2B1, SH2B2 and PLCG1 that regulate distinct overlapping signaling cascades. Through SHC1, FRS2, SH2B1, SH2B2 activates the GRB2-Ras-MAPK cascade that regulates for instance neuronal differentiation including neurite outgrowth. Through the same effectors controls the Ras-PI3 kinase-AKT1 signaling cascade that mainly regulates growth and survival. Through PLCG1 and the downstream protein kinase C-regulated pathways controls synaptic plasticity. Thereby, plays a role in learning and memory by regulating both short term synaptic function and long-term potentiation. PLCG1 also leads to NF-Kappa-B activation and the transcription of genes involved in cell survival. Hence, it is able to suppress anoikis, the apoptosis resulting from loss of cell-matrix interactions. May also play a role in neutrophin-dependent calcium signaling in glial cells and mediate communication between neurons and glia., [UniProtKB, PubMed, UniProtKB, PubMed]; Targeting the NTSR2/TrkB oncogenic pathway in chronic lymphocytic leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]., [RefSeq]; TrkB/BDNF signaling pathway and its small molecular agonists in CNS injury. 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": 11, "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": 12, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 12, "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": 77, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 23, "disease_count": 38, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "B1ANZ4;B4DFV9;Q16675;Q59GJ1;Q8WXJ5;Q8WXJ6;Q8WXJ7", "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": "2.7.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.32", "type": "external" }, { "id": "2.7.1.82", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.82", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "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": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" } ], "go_molecular_function": "GO:0043121 neurotrophin binding;GO:0060175 brain-derived neurotrophic factor receptor activity;GO:0002020 protease binding;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity", "go_cellular_component": "GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0014069 postsynaptic density;GO:0030424 axon", "go_biological_process": "GO:1990416 cellular response to brain-derived neurotrophic factor stimulus;GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007612 learning;GO:0008284 positive regulation of cell population proliferation;GO:0010628 positive regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q16620-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5H8A3-1", "uniprot_id": [ { "id": "NMS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5H8A3", "type": "external" } ], "mass": 17731.0, "length": 153, "protein_name": "Neuromedin-S", "gene_name": "NMS", "organism": "Human", "refseq_name": "neuromedin-S preproprotein", "refseq_ac": [ { "id": "NP_001011717", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011717", "type": "external" } ], "gene_names_uniprotkb": "NMS", "gene_names_refseq": "NMS", "protein_names_uniprotkb": "Neuromedin-S", "protein_names_refseq": "neuromedin S precursor-related peptide/neuromedin S preproprotein; neuromedin-S preproprotein; prepro-NMS", "tax_id": 9606, "disease": "", "pathway": " (hsa:129521); (R-HSA-375276); (R-HSA-416476); (R-HSA-418594)", "pathway_count": 4, "publication_count": 131, "publication_id_list": "10079109;10100623;10191087;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10567430;10604470;10727532;10854085;10861009;10899166;11007482;11015615;11322507;11385580;11457843;11562423;11683476;11742120;11753430;11773063;12120503;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;15635449;1567413;15947423;15951850;16182515;16268778;16339447;1655761;16634148;16754659;16923326;1710450;1710578;1719979;1722333;17870195;18127230;18434541;1847994;18515384;18577758;18936096;18987052;1905813;19519756;20468064;23446738;23690594;24906252;2534964;25741729;2649896;27397612;2748346;27496565;2834384;2841328;3086311;3202875;3366244;3525564;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8664309;8666380;8702752;873923;8823230;9171878;9305846;9521323;9530155;9593744;9607765;9685625;9722565;9770463;9792798;9832121;9851594", "class_list": "", "function": "Both NMU receptor and peptide are expressed in human cardiovascular tissues and have shown that NMU-25 and NMS act as potent vasoconstrictors in human vascular beds, [RefSeq, PubMed]; Implicated in the regulation of circadian rhythms through autocrine and/or paracrine actions., [UniProtKB]; In man, NMS elicits vasoconstriction in isolated saphenous vein with comparable potency with NMU, but significantly reduces maximum contractile response. Review article, [RefSeq, PubMed]; NMS is implicated in the regulation of circadian rhythm and feeding behavior, [RefSeq, PubMed]; Neuromedin s neurons define a subpopulation of pacemakers that control suprachiasmatic nucleus network synchrony., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a member of the neuromedin family of neuropeptides. The encoded preproprotein is proteolytically processed to generate a biologically active neuropeptide that plays a role in the regulation of circadian rhythm, anorexigenic action, antidiuretic action, cardiovascular function and stimulation of oxytocin and vasopressin release. [provided by RefSeq, May 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:0005576 extracellular region", "go_biological_process": "GO:0007218 neuropeptide signaling pathway", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "Q5H8A3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SYE7-1", "uniprot_id": [ { "id": "NHSL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SYE7", "type": "external" } ], "mass": 170668.0, "length": 1610, "protein_name": "NHS-like protein 1", "gene_name": "NHSL1", "organism": "Human", "refseq_name": "NHS-like protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001137532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137532", "type": "external" } ], "gene_names_uniprotkb": "NHSL1; C6orf63; KIAA1357", "gene_names_refseq": "C6orf63; NHSL1", "protein_names_uniprotkb": "NHS-like protein 1", "protein_names_refseq": "NHS-like protein 1 isoform 2; NHS-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57224)", "pathway_count": 1, "publication_count": 41, "publication_id_list": "11237011;15466011;18220336;18669648;21406692;22645359;23186163;23481700;24275569;25576301;26992070;27600516;27862975;28832583;29508533;29557506;29632046;29789417;30192525;30379171;30429286;31154438;31217245;31492838;31844290;31848261;32157095;32161166;32265295;32387766;32488085;32983136;33141586;33592498;33968037;34171305;34420305;34561969;34584076;35051231;35580925", "class_list": "", "function": "Nance-Horan Syndrome-like 1 protein negatively regulates Scar/WAVE-Arp2/3 activity and inhibits lamellipodia stability and cell migration. Publication Status: Online-Only, [RefSeq, PubMed]; Proteogenomics Integrating Novel Junction Peptide Identification Strategy Discovers Three Novel Protein Isoforms of Human NHSL1 and EEF1B2., [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": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 54, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q3ZCS5;Q5SYE8;Q9P2J0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q5SYE7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BSD7-1", "uniprot_id": [ { "id": "NTPCR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BSD7", "type": "external" } ], "mass": 20713.0, "length": 190, "protein_name": "Cancer-related nucleoside-triphosphatase", "gene_name": "NTPCR", "organism": "Human", "refseq_name": "cancer-related nucleoside-triphosphatase isoform 3", "refseq_ac": [ { "id": "NP_001316382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316382", "type": "external" } ], "gene_names_uniprotkb": "NTPCR; C1orf57", "gene_names_refseq": "C1orf57; HCR-NTPase; NTPCR; THEP1", "protein_names_uniprotkb": "Cancer-related nucleoside-triphosphatase; 3.6.1.15; NTPase; Nucleoside triphosphate phosphohydrolase", "protein_names_refseq": "cancer-related nucleoside-triphosphatase isoform 3; cancer-related nucleoside-triphosphatase; human cancer-related NTPase; nucleoside triphosphate phosphohydrolase; nucleoside-triphosphatase C1orf57", "tax_id": 9606, "disease": "", "pathway": " (hsa:84284)", "pathway_count": 1, "publication_count": 50, "publication_id_list": "11237011;17291528;19608861;20068231;23301498;24366607;24715725;25418920;25576301;26154972;26992070;27846572;27920218;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29493099;29557506;29632046;30315122;30779550;30833945;31154438;31217245;31844290;32157095;32265295;32357974;32387766;32502341;32938616;32983136;33298915;33392160;33537174;33592498;33717175;33936100;33968037;33981976;34185709;34229054;35051231;35580925;36010968;36241641", "class_list": "", "function": "Has nucleotide phosphatase activity towards ATP, GTP, CTP, TTP and UTP. Hydrolyzes nucleoside diphosphates with lower efficiency., [UniProtKB, PubMed]; The protein encoded by this gene is a non-specific nucleoside triphosphatase that is slow-acting in vitro. This gene is overexpressed in many tumor tissues, and while it is not essential for the cell, overexpression is cytotoxic. However, the cytotoxicity is not related to its triphosphatase activity. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "3.6.4.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.12", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "5.6.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.5", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "7.2.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.2.2.-", "type": "external" }, { "id": "5.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" }, { "id": "3.6.-.-", "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": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "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": "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:0003723 RNA binding;GO:0003924 GTPase activity;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0017111 ribonucleoside triphosphate phosphatase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "Q9BSD7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZNB6-1", "uniprot_id": [ { "id": "NFXL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZNB6", "type": "external" } ], "mass": 101339.0, "length": 911, "protein_name": "NF-X1-type zinc finger protein NFXL1", "gene_name": "NFXL1", "organism": "Human", "refseq_name": "NF-X1-type zinc finger protein NFXL1", "refseq_ac": [ { "id": "NP_001265552", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265552", "type": "external" } ], "gene_names_uniprotkb": "NFXL1; OZFP", "gene_names_refseq": "CDZFP; HOZFP; NFXL1; OZFP; URCC5", "protein_names_uniprotkb": "NF-X1-type zinc finger protein NFXL1; Ovarian zinc finger protein; hOZFP", "protein_names_refseq": "NF-X1-type zinc finger protein NFXL1; cytoplasm-distribution zinc finger protein; ovarian zinc finger protein; up-regulated in colon cancer 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:152518)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "17081983;18452278;18669648;19651622;20068231;20877624;21406692;22645359;23186163;25781923;26992070;28657654;28832583;28904123;29242379;29393594;29493099;29632046;29786170;30315122;30410026;30429286;31844290;32265295;33633747;35051231;35254053;35580925;37217939;38253038;38838015;39531497;40307207", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; We conclude that coding variants within NFXL1 confer an increased risk of Specific Language Impairment within a complex genetic model Erratum:[PLoS Genet. 2015 Jun 26;11(6):e1005336. doi: 10.1371/journal.pgen.1005336. Echeverry, Maria Magdalena [corrected to Echeverry, Maria Magdalena]. PMID: 26114769] 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": 9, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "B1Q2K1;Q86VG1;Q8WVH1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0016020 membrane;GO:0000785 chromatin", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q6ZNB6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86X76-1", "uniprot_id": [ { "id": "NIT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86X76", "type": "external" } ], "mass": 35896.0, "length": 327, "protein_name": "Deaminated glutathione amidase", "gene_name": "NIT1", "organism": "Human", "refseq_name": "deaminated glutathione amidase isoform 2", "refseq_ac": [ { "id": "NP_001172021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001172021", "type": "external" } ], "gene_names_uniprotkb": "NIT1", "gene_names_refseq": "BSVD4; NIT1", "protein_names_uniprotkb": "Deaminated glutathione amidase; 3.5.1.128; Nitrilase homolog 1; dGSH amidase", "protein_names_refseq": "dGSH amidase; deaminated glutathione amidase isoform 2; deaminated glutathione amidase", "tax_id": 9606, "disease": "brain small vessel disease 4 (Disease Ontology:DOID:0061234)", "pathway": " (hsa:4817)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "16864578;20877624;22424782;23301498;25810538;26967383;27920218;28228285;28514659;28832583;28904123;29242379;29393594;29449642;29557506;29632046;29632711;30315122;30429286;30524438;31154438;31217245;31705625;31844290;31937595;32157095;32350084;32387766;32488085;32502341;32938616;33141586;33298915;33592498;33936100;33968037;34171305;34509645;35051231;35580925;36010968;36766695;37938771;38430071;9671749", "class_list": "", "function": "Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage., [RefSeq, PubMed]; Catalyzes the hydrolysis of the amide bond in N-(4-oxoglutarate)-L-cysteinylglycine (deaminated glutathione), a metabolite repair reaction to dispose of the harmful deaminated glutathione (PubMed:38430071). Plays a role in cell growth and apoptosis: loss of expression promotes cell growth, resistance to DNA damage stress and increased incidence to NMBA-induced tumors. Has tumor suppressor properties that enhances the apoptotic responsiveness in cancer cells; this effect is additive to the tumor suppressor activity of FHIT. It is also a negative regulator of primary T-cells., [UniProtKB, PubMed]; Data show that cisplatin response was enhanced in human lung cancer cells when Nit1 was knocked down and mice Nit1-/-:KrasG12D/+ tumors showed increased sensitivity to cisplatin in vivo., [RefSeq, PubMed]; NIT1 suppresses colorectal cancer cell proliferation through a positive feedback loop between NIT1 and activation of the TGFbeta-Smad2/3 signalling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Nit1 and Fhit share tumor suppressor signaling pathways, while localization of the NIT1 gene at a stable chromosome site explains the paucity of gene alterations and in frequent loss of expression of the NIT1 gene in human malignancies., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; The Rosetta Stone Hypothesis-Based Interaction of the Tumor Suppressor Proteins Nit1 and Fhit. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the nitrilase protein family with homology to bacterial and plant nitrilases, enzymes that cleave nitriles and organic amides to the corresponding carboxylic acids plus ammonia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "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": "B1AQP3;D3DVF4;O76091", "ec_number_list": [ { "id": "3.5.1.128", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.128", "type": "external" } ], "go_molecular_function": "GO:0110050 deaminated glutathione amidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:0043605 amide catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q86X76-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YC3-1", "uniprot_id": [ { "id": "LRC33_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YC3", "type": "external" } ], "mass": 76366.0, "length": 692, "protein_name": "Transforming growth factor beta activator LRRC33", "gene_name": "NRROS", "organism": "Human", "refseq_name": "transforming growth factor beta activator LRRC33 precursor", "refseq_ac": [ { "id": "NP_940967", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940967", "type": "external" } ], "gene_names_uniprotkb": "NRROS; LRRC33; PRO9833", "gene_names_refseq": "ELLP3030; GARPL1; LRRC33; NRROS; SENEBAC; UNQ3030", "protein_names_uniprotkb": "Transforming growth factor beta activator LRRC33; Leucine-rich repeat-containing protein 33; Negative regulator of reactive oxygen species", "protein_names_refseq": "glycoprotein A repetitions predominant like 1; leucine-rich repeat-containing protein 33; transforming growth factor beta activator LRRC33 precursor; transforming growth factor beta activator LRRC33", "tax_id": 9606, "disease": "seizures, early-onset, with neurodegeneration and brain calcifications (MONDO:MONDO:0030033)", "pathway": " (hsa:375387)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "10.1101/2023.09.13.557529;12975309;18991276;21654843;23481700;23545260;24190977;24550525;24714562;24715725;25418920;25502872;25892735;26154972;26375851;26728094;26758079;26929215;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28467828;28649982;28832583;28834231;28904123;29242379;29314611;29317506;29393594;29437277;29508533;29557506;29909984;30315122;30429286;30573663;31154438;31530632;31600200;31644309;31844290;31848261;31937595;31998317;32100099;32157095;32197075;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33717175;33912179;33936100;33968037;34211107;34357683;34509645;34932366;35051231;35154160;35251023;35580925;36008481;37074911;40914422", "class_list": "", "function": "A SNP at the rs6583331 locus 3q29 is associated with the susceptibility of vitiligo in the Chinese Han population. The T allele of the locus within the FBXO45-NRROS gene (3q29) was significantly associated with vitiligo (odds ratio = 1.22, 95% confidence interval: 1.10-1.36, p = 0.0001). Association at the genotype level was strong (p = 0.0007)., [RefSeq, PubMed]; Biallelic mutations in NRROS cause an early onset lethal microgliopathy., [RefSeq, PubMed]; Key regulator of transforming growth factor beta-1 (TGFB1) specifically required for microglia function in the nervous system (By similarity). Required for activation of latent TGF-beta-1 in macrophages and microglia: associates specifically via disulfide bonds with the Latency-associated peptide (LAP), which is the regulatory chain of TGFB1, and regulates integrin-dependent activation of TGF-beta-1 (By similarity). TGF-beta-1 activation mediated by LRRC33/NRROS is highly localized: there is little spreading of TGF-beta-1 activated from one microglial cell to neighboring microglia, suggesting the existence of localized and selective activation of TGF-beta-1 by LRRC33/NRROS (By similarity). Indirectly plays a role in Toll-like receptor (TLR) signaling: ability to inhibit TLR-mediated NF-kappa-B activation and cytokine production is probably a consequence of its role in TGF-beta-1 signaling (PubMed:23545260)., [UniProtKB, PubMed, UniProtKB]; LRRC33 co-localizes and forms complex with latent TGF-beta1 protein on the cell surface and intracellularly in these cells. Publication Status: Online-Only, [RefSeq, PubMed]; LRRC33 represents the first identified LRR-containing protein that plays a critical role in desensitizing Toll-like receptor (TLR)-mediated innate immune responses., [RefSeq, PubMed]; Results suggest that LRRC33 and TLRs may form a negative-feedback loop, which is important for the maintenance of immune homeostasis., [RefSeq, PubMed]; Specificity of TGF-beta1 signal designated by LRRC33 and integrin alphaVbeta8. Publication Status: Online-Only, [RefSeq, PubMed]; Wild-type and mutant NRROS proteins co-localize with latent TGF-beta1 intracellularly., [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": 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": 40, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 1, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0050431 transforming growth factor beta binding;GO:0141069 receptor ligand inhibitor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0035583 sequestering of TGFbeta in extracellular matrix;GO:0006954 inflammatory response;GO:0006955 immune response;GO:0014005 microglia development;GO:0007179 transforming growth factor beta receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q86YC3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YG4-1", "uniprot_id": [ { "id": "NT5D4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YG4", "type": "external" } ], "mass": 49027.0, "length": 428, "protein_name": "5'-nucleotidase domain-containing protein 4", "gene_name": "NT5DC4", "organism": "Human", "refseq_name": "5'-nucleotidase domain-containing protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001337423", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001337423", "type": "external" } ], "gene_names_uniprotkb": "NT5DC4", "gene_names_refseq": "NT5DC4", "protein_names_uniprotkb": "5'-nucleotidase domain-containing protein 4", "protein_names_refseq": "5'-nucleotidase domain-containing protein 4 isoform 2; 5'-nucleotidase domain-containing protein 4", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:284958)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;27920218", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A8I5KS70", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0008253 5'-nucleotidase activity;GO:0016787 hydrolase activity", "go_cellular_component": "", "go_biological_process": "GO:0046054 dGMP metabolic process;GO:0046037 GMP metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q86YG4-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVF1-1", "uniprot_id": [ { "id": "NTM2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVF1", "type": "external" } ], "mass": 93890.0, "length": 878, "protein_name": "NUT family member 2A", "gene_name": "NUTM2A", "organism": "Human", "refseq_name": "NUT family member 2A", "refseq_ac": [ { "id": "NP_001092808", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092808", "type": "external" } ], "gene_names_uniprotkb": "NUTM2A; FAM22A; KIAA2020", "gene_names_refseq": "FAM22A; NUTM2A", "protein_names_uniprotkb": "NUT family member 2A", "protein_names_refseq": "NUT family member 2A; family with sequence similarity 22, member A; protein FAM22A", "tax_id": 9606, "disease": "", "pathway": " (hsa:728118)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "22456610;28188754;32938616;35051231", "class_list": "", "function": "Case Report: genetically distinct variant of CIC-rearranged sarcomas with a novel NUTM2A-CIC fusion., [RefSeq, PubMed]; Tumors with YWHAE-FAM22 rearrangements constitute a distinct group of endometrial stromal sarcoma (ESS), which is associated with high-grade morphology and aggressive clinical behavior compared to JAZF1 ESS., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A6NMX5;C9JDI1;Q5VZW1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8IVF1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IY84-1", "uniprot_id": [ { "id": "NIM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IY84", "type": "external" } ], "mass": 49606.0, "length": 436, "protein_name": "Serine/threonine-protein kinase NIM1", "gene_name": "NIM1K", "organism": "Human", "refseq_name": "serine/threonine-protein kinase NIM1", "refseq_ac": [ { "id": "NP_699192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_699192", "type": "external" } ], "gene_names_uniprotkb": "NIM1K; NIM1", "gene_names_refseq": "NIM1K; NIM1", "protein_names_uniprotkb": "Serine/threonine-protein kinase NIM1; 2.7.11.1; NIM1 serine/threonine-protein kinase", "protein_names_refseq": "serine/threonine-protein kinase NIM1", "tax_id": 9606, "disease": "", "pathway": " (hsa:167359)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "15733851;17344846;24715725;29331515;30379171;31844290;31998317;35494241;36672247", "class_list": "", "function": "PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia. 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": 3, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B3KVM1", "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:0106310 protein serine kinase activity", "go_cellular_component": "", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8IY84-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFH3-1", "uniprot_id": [ { "id": "NUP43_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFH3", "type": "external" } ], "mass": 42151.0, "length": 380, "protein_name": "Nucleoporin Nup43", "gene_name": "NUP43", "organism": "Human", "refseq_name": "nucleoporin Nup43", "refseq_ac": [ { "id": "NP_942590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_942590", "type": "external" } ], "gene_names_uniprotkb": "NUP43", "gene_names_refseq": "NUP43; bA350J20.1; p42", "protein_names_uniprotkb": "Nucleoporin Nup43; Nup107-160 subcomplex subunit Nup43; p42", "protein_names_refseq": "nucleoporin 43kDa; nucleoporin Nup43; nup107-160 subcomplex subunit Nup43", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:348995); (R-HSA-1169408); (R-HSA-141430); (R-HSA-141444); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-5663220); (R-HSA-6784531); (R-HSA-68877); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9615933); (R-HSA-9648025); (R-HSA-9705671)", "pathway_count": 39, "publication_count": 522, "publication_id_list": 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"class_list": "", "function": "Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM, Mar 2008]., [RefSeq]; Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC. The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation., [UniProtKB, PubMed]; Data present the crystal structure of full length Nup43 and show that it adopts a canonical WD40 fold similar to other members of the family and interacts with Nup85-Seh1L complex to form a ternary complex., [RefSeq, PubMed]; High NUP43 expression was an independent prognostic factor of poor overall survival in luminal A subtype and in HER2+ subtype breast cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "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": "B4E2F0;Q9H8S0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031080 nuclear pore outer ring;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0000776 kinetochore", "go_biological_process": "GO:0006913 nucleocytoplasmic transport;GO:0007059 chromosome segregation;GO:0015031 protein transport;GO:0051301 cell division;GO:0051028 mRNA transport", "synthesized_glycan_count": 0, "hit_score": 52.5, "record_id": "Q8NFH3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NG77-1", "uniprot_id": [ { "id": "O2T12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NG77", "type": "external" } ], "mass": 35946.0, "length": 320, "protein_name": "Olfactory receptor 2T12", "gene_name": "OR2T12", "organism": "Human", "refseq_name": "olfactory receptor 2T12 isoform 1", "refseq_ac": [ { "id": "NP_001004692", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004692", "type": "external" } ], "gene_names_uniprotkb": "OR2T12", "gene_names_refseq": "OR1-57; OR2T12", "protein_names_uniprotkb": "Olfactory receptor 2T12; Olfactory receptor OR1-57", "protein_names_refseq": "novel 7 transmembrane receptor (rhodopsin family) protein; olfactory receptor 2T12 isoform 1; olfactory receptor 2T12; olfactory receptor OR1-57", "tax_id": 9606, "disease": "", "pathway": " (hsa:127064); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "14983052;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NG77-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NG84-1", "uniprot_id": [ { "id": "O2AK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NG84", "type": "external" } ], "mass": 37763.0, "length": 335, "protein_name": "Olfactory receptor 2AK2", "gene_name": "OR2AK2", "organism": "Human", "refseq_name": "olfactory receptor 2AK2", "refseq_ac": [ { "id": "NP_001004491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004491", "type": "external" } ], "gene_names_uniprotkb": "OR2AK2; OR2AK1P", "gene_names_refseq": "OR1-47; OR2AK1P; OR2AK2", "protein_names_uniprotkb": "Olfactory receptor 2AK2; Olfactory receptor 2AK1; Olfactory receptor OR1-47", "protein_names_refseq": "olfactory receptor 2AK1; olfactory receptor 2AK2; olfactory receptor OR1-47; olfactory receptor, family 2, subfamily AK, member 1 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:391191); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB, UniProtKB, UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": "B2RND1;Q6IF05", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NG84-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGC8-1", "uniprot_id": [ { "id": "O11H7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGC8", "type": "external" } ], "mass": 35499.0, "length": 314, "protein_name": "Olfactory receptor 11H7", "gene_name": "OR11H7", "organism": "Human", "refseq_name": "olfactory receptor 11H7", "refseq_ac": [ { "id": "NP_001335202", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335202", "type": "external" } ], "gene_names_uniprotkb": "OR11H7; OR11H7P", "gene_names_refseq": "OR11H7P; OR11H7", "protein_names_uniprotkb": "Olfactory receptor 11H7; Olfactory receptor OR14-32", "protein_names_refseq": "olfactory receptor 11H7; olfactory receptor OR14-32; olfactory receptor, family 11, subfamily H, member 7 pseudogene; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:390441); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "12730696;14983052;17973576;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor. Activated by isovaleric acid., [UniProtKB, PubMed]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]., [RefSeq]; Possible functional role of OR11H7P in isovaleric acid detection, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGC8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGF1-1", "uniprot_id": [ { "id": "O52R1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGF1", "type": "external" } ], "mass": 34943.0, "length": 315, "protein_name": "Olfactory receptor 52R1", "gene_name": "OR52R1", "organism": "Human", "refseq_name": "olfactory receptor 52R1", "refseq_ac": [ { "id": "NP_001005177", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005177", "type": "external" } ], "gene_names_uniprotkb": "OR52R1", "gene_names_refseq": "OR11-22; OR52R1", "protein_names_uniprotkb": "Olfactory receptor 52R1; Olfactory receptor OR11-22", "protein_names_refseq": "olfactory receptor 52R1; olfactory receptor OR11-22", "tax_id": 9606, "disease": "", "pathway": " (hsa:119695); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "14983052;24800820;27515280;29557506;31974307;32066986;33592498;34087483;36215666", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 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": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IFI0", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NGF1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGF3-1", "uniprot_id": [ { "id": "O51D1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGF3", "type": "external" } ], "mass": 35839.0, "length": 324, "protein_name": "Olfactory receptor 51D1", "gene_name": "OR51D1", "organism": "Human", "refseq_name": "olfactory receptor 51D1", "refseq_ac": [ { "id": "NP_001004751", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004751", "type": "external" } ], "gene_names_uniprotkb": "OR51D1", "gene_names_refseq": "OR11-14; OR51D1Q; OR51D1", "protein_names_uniprotkb": "Olfactory receptor 51D1; Olfactory receptor OR11-14", "protein_names_refseq": "olfactory receptor 51D1; olfactory receptor OR11-14", "tax_id": 9606, "disease": "", "pathway": " (hsa:390038); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 24, "publication_id_list": "10460249;12732197;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;29557506;31040214;31092671;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; This publication uses 'GPR137' as a name for this gene., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B9EIK4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8NGF3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGF6-1", "uniprot_id": [ { "id": "O10W1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGF6", "type": "external" } ], "mass": 33376.0, "length": 305, "protein_name": "Olfactory receptor 10W1", "gene_name": "OR10W1", "organism": "Human", "refseq_name": "olfactory receptor 10W1", "refseq_ac": [ { "id": "NP_997257", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997257", "type": "external" } ], "gene_names_uniprotkb": "OR10W1; OR10W1P; PRO34070", "gene_names_refseq": "OR10W1P; OR10W1Q; OR10W1; OR11-236; UNQ6469", "protein_names_uniprotkb": "Olfactory receptor 10W1; Olfactory receptor OR11-236", "protein_names_refseq": "olfactory receptor 10W1; olfactory receptor OR11-236; olfactory receptor, family 10, subfamily W, member 1 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:81341); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "12975309;14983052;24800820;27515280;31844290;31974307;32066986;34087483;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A2RUD2;A8MTE1;Q6UXQ2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NGF6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGH8-1", "uniprot_id": [ { "id": "O56A4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGH8", "type": "external" } ], "mass": 35116.0, "length": 313, "protein_name": "Olfactory receptor 56A4", "gene_name": "OR56A4", "organism": "Human", "refseq_name": "olfactory receptor 56A4", "refseq_ac": [ { "id": "NP_001005179", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005179", "type": "external" } ], "gene_names_uniprotkb": "OR56A4", "gene_names_refseq": "OR11-49; OR56A4", "protein_names_uniprotkb": "Olfactory receptor 56A4; Olfactory receptor OR11-49", "protein_names_refseq": "olfactory receptor 56A4; olfactory receptor OR11-49", "tax_id": 9606, "disease": "", "pathway": " (hsa:120793); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 22, "publication_id_list": "10460249;11237011;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;29789417;31040214;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B9EH17", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8NGH8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGH9-1", "uniprot_id": [ { "id": "O52E4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGH9", "type": "external" } ], "mass": 35480.0, "length": 312, "protein_name": "Olfactory receptor 52E4", "gene_name": "OR52E4", "organism": "Human", "refseq_name": "olfactory receptor 52E4", "refseq_ac": [ { "id": "NP_001005165", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005165", "type": "external" } ], "gene_names_uniprotkb": "OR52E4", "gene_names_refseq": "OR11-55; OR52E4", "protein_names_uniprotkb": "Olfactory receptor 52E4; Olfactory receptor OR11-55", "protein_names_refseq": "olfactory receptor 52E4; olfactory receptor OR11-55", "tax_id": 9606, "disease": "", "pathway": " (hsa:390081); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "14983052;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": "Q6IFG0", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NGH9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGJ2-1", "uniprot_id": [ { "id": "O52H1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGJ2", "type": "external" } ], "mass": 35047.0, "length": 314, "protein_name": "Olfactory receptor 52H1", "gene_name": "OR52H1", "organism": "Human", "refseq_name": "olfactory receptor 52H1", "refseq_ac": [ { "id": "NP_001005289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005289", "type": "external" } ], "gene_names_uniprotkb": "OR52H1", "gene_names_refseq": "OR11-41; OR11-45; OR52H1", "protein_names_uniprotkb": "Olfactory receptor 52H1; Olfactory receptor OR11-45", "protein_names_refseq": "olfactory receptor 52H1; olfactory receptor OR11-41 pseudogene; olfactory receptor OR11-45", "tax_id": 9606, "disease": "", "pathway": " (hsa:390067); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986;39531497", "class_list": "", "function": "Odorant receptor., [UniProtKB, UniProtKB, UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 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": "B9EH26;Q6IF79", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NGJ2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGJ3-1", "uniprot_id": [ { "id": "O52E1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGJ3", "type": "external" } ], "mass": 34714.0, "length": 308, "protein_name": "Olfactory receptor 52E1", "gene_name": "OR52E1", "organism": "Human", "refseq_name": "olfactory receptor 52E1", "refseq_ac": [ { "id": "NP_001335150", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001335150", "type": "external" } ], "gene_names_uniprotkb": "OR52E1; OR52E1P", "gene_names_refseq": "OR52E1P; OR52E1", "protein_names_uniprotkb": "Olfactory receptor 52E1", "protein_names_refseq": "olfactory receptor 52E1; olfactory receptor, family 52, subfamily E, member 1 pseudogene; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:79296); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "24800820;27515280;30620550;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jan 2017]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGJ3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGK5-1", "uniprot_id": [ { "id": "O52M1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGK5", "type": "external" } ], "mass": 35037.0, "length": 317, "protein_name": "Olfactory receptor 52M1", "gene_name": "OR52M1", "organism": "Human", "refseq_name": "olfactory receptor 52M1", "refseq_ac": [ { "id": "NP_001004137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004137", "type": "external" } ], "gene_names_uniprotkb": "OR52M1; OR52M1P", "gene_names_refseq": "OR11-11; OR52M1P; OR52M1; OR52M3P", "protein_names_uniprotkb": "Olfactory receptor 52M1; Olfactory receptor OR11-11", "protein_names_refseq": "olfactory receptor 52M1; olfactory receptor OR11-11; olfactory receptor, family 52, subfamily M, member 1 pseudogene; olfactory receptor, family 52, subfamily M, member 3 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:119772); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "12732197;14983052;24800820;26992070;27515280;31844290;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; This publication uses 'GPR135' as a name for this gene., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NGK5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGK6-1", "uniprot_id": [ { "id": "O52I1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGK6", "type": "external" } ], "mass": 35386.0, "length": 324, "protein_name": "Olfactory receptor 52I1", "gene_name": "OR52I1", "organism": "Human", "refseq_name": "olfactory receptor 52I1", "refseq_ac": [ { "id": "NP_001005169", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005169", "type": "external" } ], "gene_names_uniprotkb": "OR52I1", "gene_names_refseq": "OR11-13; OR52I1", "protein_names_uniprotkb": "Olfactory receptor 52I1; Olfactory receptor OR11-13", "protein_names_refseq": "olfactory receptor 52I1; olfactory receptor OR11-13", "tax_id": 9606, "disease": "", "pathway": " (hsa:390037); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "12732197;14983052;19795399;24800820;27515280;31974307;32066986", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; This publication uses 'GPR134' as a name for this gene., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q6IF91", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGK6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGS9-1", "uniprot_id": [ { "id": "O13C2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGS9", "type": "external" } ], "mass": 35694.0, "length": 318, "protein_name": "Olfactory receptor 13C2", "gene_name": "OR13C2", "organism": "Human", "refseq_name": "olfactory receptor 13C2", "refseq_ac": [ { "id": "NP_001004481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004481", "type": "external" } ], "gene_names_uniprotkb": "OR13C2", "gene_names_refseq": "OR13C2; OR37K", "protein_names_uniprotkb": "Olfactory receptor 13C2; Olfactory receptor OR9-12", "protein_names_refseq": "olfactory receptor 13C2; olfactory receptor OR9-12", "tax_id": 9606, "disease": "", "pathway": " (hsa:392376); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;29557506;31844290;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": "B9EGV8;Q6IF54", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NGS9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGX0-1", "uniprot_id": [ { "id": "O11L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGX0", "type": "external" } ], "mass": 36763.0, "length": 322, "protein_name": "Olfactory receptor 11L1", "gene_name": "OR11L1", "organism": "Human", "refseq_name": "olfactory receptor 11L1", "refseq_ac": [ { "id": "NP_001001959", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001959", "type": "external" } ], "gene_names_uniprotkb": "OR11L1", "gene_names_refseq": "OR11L1", "protein_names_uniprotkb": "Olfactory receptor 11L1", "protein_names_refseq": "olfactory receptor 11L1; olfactory receptor OR1-50", "tax_id": 9606, "disease": "", "pathway": " (hsa:391189); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "24800820;25977809;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 18, "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": "B9EIN8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NGX0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGX1-1", "uniprot_id": [ { "id": "O2T34_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGX1", "type": "external" } ], "mass": 35681.0, "length": 318, "protein_name": "Olfactory receptor 2T34", "gene_name": "OR2T34", "organism": "Human", "refseq_name": "olfactory receptor 2T34", "refseq_ac": [ { "id": "NP_001001821", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001821", "type": "external" } ], "gene_names_uniprotkb": "OR2T34", "gene_names_refseq": "OR2T34", "protein_names_uniprotkb": "Olfactory receptor 2T34; Olfactory receptor OR1-63", "protein_names_refseq": "olfactory receptor 2T34; olfactory receptor OR1-63", "tax_id": 9606, "disease": "", "pathway": " (hsa:127068); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;22706990;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB, UniProtKB, UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "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": "B2RNJ8;Q6IEY5;Q96R31", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGX1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGZ2-1", "uniprot_id": [ { "id": "O14K1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGZ2", "type": "external" } ], "mass": 34861.0, "length": 314, "protein_name": "Olfactory receptor 14K1", "gene_name": "OR14K1", "organism": "Human", "refseq_name": "olfactory receptor 14K1", "refseq_ac": [ { "id": "NP_001004732", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004732", "type": "external" } ], "gene_names_uniprotkb": "OR14K1; OR5AY1", "gene_names_refseq": "OR1-39; OR1.5.9; OR14K1; OR5AY1", "protein_names_uniprotkb": "Olfactory receptor 14K1; Olfactory receptor 5AY1; Olfactory receptor OR1-39", "protein_names_refseq": "olfactory receptor 14K1; olfactory receptor 5AY1; olfactory receptor OR1-39; olfactory receptor, family 5, subfamily AY, member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:343170); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;24715725;24800820;27515280;31974307;32066986;34087483;35494241", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A8MPV5;Q6IF85;Q96R53", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NGZ2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH19-1", "uniprot_id": [ { "id": "O10AG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH19", "type": "external" } ], "mass": 34105.0, "length": 301, "protein_name": "Olfactory receptor 10AG1", "gene_name": "OR10AG1", "organism": "Human", "refseq_name": "olfactory receptor 10AG1", "refseq_ac": [ { "id": "NP_001005491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005491", "type": "external" } ], "gene_names_uniprotkb": "OR10AG1", "gene_names_refseq": "OR10AG1; OR11-160", "protein_names_uniprotkb": "Olfactory receptor 10AG1; Olfactory receptor OR11-160", "protein_names_refseq": "olfactory receptor 10AG1; olfactory receptor OR11-160", "tax_id": 9606, "disease": "", "pathway": " (hsa:282770); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986;34087483;35051231;35580925", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 18, "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": "B2RNH4;Q6IEU3", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NH19-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH53-1", "uniprot_id": [ { "id": "O52N1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH53", "type": "external" } ], "mass": 35785.0, "length": 320, "protein_name": "Olfactory receptor 52N1", "gene_name": "OR52N1", "organism": "Human", "refseq_name": "olfactory receptor 52N1", "refseq_ac": [ { "id": "NP_001001913", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001913", "type": "external" } ], "gene_names_uniprotkb": "OR52N1", "gene_names_refseq": "OR11-61; OR52N1", "protein_names_uniprotkb": "Olfactory receptor 52N1; Olfactory receptor OR11-61", "protein_names_refseq": "olfactory receptor 52N1; olfactory receptor OR11-61", "tax_id": 9606, "disease": "", "pathway": " (hsa:79473); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;24800820;27515280;29731959;31844290;31974307;32066986;32357974", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 18, "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": "Q6IFF6", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NH53-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH60-1", "uniprot_id": [ { "id": "O52J3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH60", "type": "external" } ], "mass": 35091.0, "length": 311, "protein_name": "Olfactory receptor 52J3", "gene_name": "OR52J3", "organism": "Human", "refseq_name": "olfactory receptor 52J3", "refseq_ac": [ { "id": "NP_001001916", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001916", "type": "external" } ], "gene_names_uniprotkb": "OR52J3", "gene_names_refseq": "OR11-32; OR52J3", "protein_names_uniprotkb": "Olfactory receptor 52J3; Olfactory receptor OR11-32", "protein_names_refseq": "olfactory receptor 52J3; olfactory receptor OR11-32", "tax_id": 9606, "disease": "", "pathway": " (hsa:119679); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "14983052;24800820;27515280;29557506;31154438;31844290;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 20, "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": "Q6IFE4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8NH60-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHC5-1", "uniprot_id": [ { "id": "O14AG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHC5", "type": "external" } ], "mass": 34307.0, "length": 309, "protein_name": "Olfactory receptor 14A16", "gene_name": "OR14A16", "organism": "Human", "refseq_name": "olfactory receptor 14A16", "refseq_ac": [ { "id": "NP_001001966", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001966", "type": "external" } ], "gene_names_uniprotkb": "OR14A16; OR5AT1", "gene_names_refseq": "OR14A16; OR5AT1", "protein_names_uniprotkb": "Olfactory receptor 14A16; Olfactory receptor 5AT1; Olfactory receptor OR1-45", "protein_names_refseq": "olfactory receptor 14A16; olfactory receptor 5AT1; olfactory receptor OR1-45; olfactory receptor, family 5, subfamily AT, member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:284532); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 5, "publication_id_list": "14983052;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "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": "Q6IF96", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NHC5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NHC7-1", "uniprot_id": [ { "id": "O14CZ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NHC7", "type": "external" } ], "mass": 34815.0, "length": 312, "protein_name": "Olfactory receptor 14C36", "gene_name": "OR14C36", "organism": "Human", "refseq_name": "olfactory receptor 14C36", "refseq_ac": [ { "id": "NP_001001918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001918", "type": "external" } ], "gene_names_uniprotkb": "OR14C36; OR5BF1", "gene_names_refseq": "OR14C36; OR5BF1", "protein_names_uniprotkb": "Olfactory receptor 14C36; Olfactory receptor 5BF1; Olfactory receptor OR1-59", "protein_names_refseq": "olfactory receptor 14C36; olfactory receptor 5BF1; olfactory receptor OR1-59; olfactory receptor, family 5, subfamily BF, member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:127066); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;30418433;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 21, "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": "Q6IEZ6", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NHC7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WTW4-1", "uniprot_id": [ { "id": "NPRL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WTW4", "type": "external" } ], "mass": 43658.0, "length": 380, "protein_name": "GATOR1 complex protein NPRL2", "gene_name": "NPRL2", "organism": "Human", "refseq_name": "GATOR1 complex protein NPRL2", "refseq_ac": [ { "id": "NP_006536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006536", "type": "external" } ], "gene_names_uniprotkb": "NPRL2; TUSC4", "gene_names_refseq": "FFEVF2; NPR2L; NPR2; NPRL2; TUSC4", "protein_names_uniprotkb": "GATOR1 complex protein NPRL2; G21 protein; Gene 21 protein; NPR2-like protein; Nitrogen permease regulator 2-like protein; Tumor suppressor candidate 4", "protein_names_refseq": "2810446G01Rik; G21 protein; GATOR complex protein NPRL2; GATOR1 complex protein NPRL2; NPR2-like protein; gene 21 protein; homologous to yeast nitrogen permease (candidate tumor suppressor); mutant NPRL2; nitrogen permease regulator 2-like protein; tumor suppressor candidate 4", "tax_id": 9606, "disease": "familial focal epilepsy with variable foci 2 (Disease Ontology:DOID:0081422)", "pathway": " (hsa:10641); (R-HSA-9639288)", "pathway_count": 2, "publication_count": 109, "publication_id_list": "11085536;11237011;11980673;15854902;15878852;16098514;17470430;18497260;18604198;18616680;18991276;19521502;20381137;22053050;22575674;22980980;23481700;23723238;24081491;24095279;24714562;24715725;25259925;25263562;25418920;25457612;25561175;25567906;25576301;25645385;25819761;26375851;26449471;26505888;26586190;26728094;26972053;26992070;27173016;27308486;27487210;27543614;27648300;27846572;27862975;28066558;28199306;28199315;28218747;28228285;28832583;28834231;28904123;29053970;29056322;29123071;29236692;29242379;29393594;29437277;29508533;29557506;29590090;29632046;29632711;29786170;30061680;30181260;30315122;30429286;30651352;30833945;31092671;31154438;31217245;31844290;31848261;32157095;32161166;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33968037;34087483;34171305;34509645;34932366;35051231;35338845;35561310;35580925;36007018;36010968;36284347;36321403;36528027;37121122;37259768;38006878;7499430", "class_list": "", "function": "Catalytic component of the GATOR1 complex, a multiprotein complex that functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway (PubMed:23723238, PubMed:29590090, PubMed:35338845, PubMed:38006878). In response to amino acid depletion, the GATOR1 complex has GTPase activating protein (GAP) activity and strongly increases GTP hydrolysis by RagA/RRAGA (or RagB/RRAGB) within heterodimeric Rag complexes, thereby turning them into their inactive GDP-bound form, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling (PubMed:23723238, PubMed:29590090, PubMed:35338845). In the presence of abundant amino acids, the GATOR1 complex is ubiquitinated and inhibited by GATOR2 (PubMed:23723238, PubMed:36528027). Within the GATOR1 complex, NPRL2 constitutes the catalytic subunit that mediates the GTPase activator activity and under methionine-sufficient conditions, the GTPase activator activity is inhibited by PRMT1 through methylation and consequently inducing timely mTORC1 activation (PubMed:27173016, PubMed:30651352, PubMed:35338845)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; NPRL2 down-regulation facilitates the growth of hepatocellular carcinoma via the mTOR pathway and autophagy suppression., [RefSeq, PubMed]; Risk signature identification and NPRL2 affects sunitinib sensitivity in clear cell renal cell carcinoma., [RefSeq, PubMed]; Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery. Review article, [RefSeq, PubMed]; Suppresses Src-dependent tyrosine phosphorylation and activation of PDPK1 and its downstream signaling (PubMed:18616680). Down-regulates PDPK1 kinase activity by interfering with tyrosine phosphorylation at 'Tyr-9', 'Tyr-373' and 'Tyr-376' residues (PubMed:18616680). May act as a tumor suppressor (PubMed:18616680). Suppresses cell growth and enhances sensitivity to various anticancer drugs (PubMed:18616680)., [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": 14, "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": "A8K831;Q6FGS2;Q9Y249;Q9Y497", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005765 lysosomal membrane;GO:0005774 vacuolar membrane;GO:1990130 GATOR1 complex", "go_biological_process": "GO:0033673 negative regulation of kinase activity;GO:0034198 cellular response to amino acid starvation;GO:1904262 negative regulation of TORC1 signaling", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q8WTW4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96G61-1", "uniprot_id": [ { "id": "NUD11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96G61", "type": "external" } ], "mass": 18559.0, "length": 164, "protein_name": "Diphosphoinositol polyphosphate phosphohydrolase 3-beta", "gene_name": "NUDT11", "organism": "Human", "refseq_name": "diphosphoinositol polyphosphate phosphohydrolase 3-beta", "refseq_ac": [ { "id": "NP_060629", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060629", "type": "external" } ], "gene_names_uniprotkb": "NUDT11; APS1; DIPP3B", "gene_names_refseq": "APS1; ASP1; DIPP3beta; DIPP3b; NUDT11; hDIPP3beta", "protein_names_uniprotkb": "Diphosphoinositol polyphosphate phosphohydrolase 3-beta; 3.6.1.52; 3.6.1.60; DIPP-3-beta; DIPP3-beta; Diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 3-beta; Diadenosine hexaphosphate hydrolase (AMP-forming); Nucleoside diphosphate-linked moiety X motif 11; Nudix motif 11; hAps1; hDIPP3beta", "protein_names_refseq": "DIPP-3-beta; DIPP3-beta; diadenosine 5',5'''-P1,P6-hexaphosphate hydrolase 3-beta; diadenosine hexaphosphate hydrolase (AMP-forming); diphosphoinositol polyphosphate phosphohydrolase 3, beta; diphosphoinositol polyphosphate phosphohydrolase 3-beta; hAps1; nucleoside diphosphate-linked moiety X motif 11; nudix (nucleoside diphosphate linked moiety X)-type motif 11; nudix motif 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:55190); (R-HSA-1855167)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10419486;10585413;10777568;10827188;11042108;11502751;11909533;12084730;12105228;12121577;12370170;15345747;17412958;17690096;17702752;17705785;18355727;18981179;19664995;19902474;21071540;22119861;22730461;23301498;25576301;26992070;29557506;30429286;30779550;31154438;31848261;33592498;33717175;9822604", "class_list": "", "function": "Cleaves a beta-phosphate from the diphosphate groups in PP-InsP5 (diphosphoinositol pentakisphosphate), suggesting that it may play a role in signal transduction. Also able to catalyze the hydrolysis of dinucleoside oligophosphates, with Ap6A and Ap5A being the preferred substrates. The major reaction products are ADP and p4a from Ap6A and ADP and ATP from Ap5A. Also able to hydrolyze 5-phosphoribose 1-diphosphate., [UniProtKB, PubMed]; Cloning and characterisation of NUDT11 as a diadenosine polyphosphate-metabolising Nudix hydrolase. Publication Status: Online-Only, [RefSeq, PubMed]; NUDT11 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM, Mar 2008]., [RefSeq]; NUDT11, HNF1B, and SLC22A3 genes have roles in prostate cancer pathogenesis, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; The NUDT11 gene, located on chromosome X, is preferentially expressed in the testis, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q9NVN0", "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": "3.6.1.59", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.59", "type": "external" }, { "id": "3.6.1.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.52", "type": "external" }, { "id": "3.6.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.62", "type": "external" }, { "id": "3.6.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.10", "type": "external" }, { "id": "3.6.1.61", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.61", "type": "external" }, { "id": "3.6.1.60", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.60", "type": "external" } ], "go_molecular_function": "GO:0000298 endopolyphosphatase activity;GO:0008486 diphosphoinositol-polyphosphate diphosphatase activity;GO:0034431 bis(5'-adenosyl)-hexaphosphatase activity;GO:0034432 bis(5'-adenosyl)-pentaphosphatase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0071543 diphosphoinositol polyphosphate metabolic process;GO:1901907 diadenosine pentaphosphate catabolic process;GO:1901909 diadenosine hexaphosphate catabolic process;GO:1901911 adenosine 5'-(hexahydrogen pentaphosphate) catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q96G61-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MR7-1", "uniprot_id": [ { "id": "OBAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MR7", "type": "external" } ], "mass": 17524.0, "length": 158, "protein_name": "Putative uncharacterized protein OBSCN-AS1", "gene_name": "OBSCN-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OBSCN-AS1; C1orf145", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein OBSCN-AS1; OBSCN antisense RNA 1; OBSCN antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "32938616", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5T438;Q8N372", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q96MR7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BV86-1", "uniprot_id": [ { "id": "NTM1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BV86", "type": "external" } ], "mass": 25387.0, "length": 223, "protein_name": "N-terminal Xaa-Pro-Lys N-methyltransferase 1", "gene_name": "NTMT1", "organism": "Human", "refseq_name": "N-terminal Xaa-Pro-Lys N-methyltransferase 1 isoform a", "refseq_ac": [ { "id": "NP_001273725", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273725", "type": "external" } ], "gene_names_uniprotkb": "NTMT1; AD-003; C9orf32; METTL11A; NRMT1; NRMT", "gene_names_refseq": "AD-003; C9orf32; HOMT1A; METTL11A; NRMT1; NRMT; NTM1A; NTMT1", "protein_names_uniprotkb": "N-terminal Xaa-Pro-Lys N-methyltransferase 1; 2.1.1.244; Alpha N-terminal protein methyltransferase 1A; Methyltransferase-like protein 11A; N-terminal RCC1 methyltransferase; NTM1A; X-Pro-Lys N-terminal protein methyltransferase 1A", "protein_names_refseq": "N-terminal RCC1 methyltransferase; N-terminal Xaa-Pro-Lys N-methyltransferase 1 isoform a; X-Pro-Lys N-terminal protein methyltransferase 1A; alpha N-terminal protein methyltransferase 1A; methyltransferase-like protein 11A", "tax_id": 9606, "disease": "", "pathway": " (hsa:28989)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "10931946;11237011;20068231;20481588;20668449;22223895;22869377;23301498;23481700;24090352;25576301;25880248;26154972;26375851;26543159;26543161;26758079;26992070;27397612;27600516;27846572;27862975;28228285;28510447;28832583;28834231;29242379;29557506;30001391;30429286;30779550;31844290;31848261;31998317;32157095;32387766;32488085;32605369;32897882;32938616;33141586;33298915;33392160;33561748;33592498;33691108;33912179;33968037;33981976;34019948;34087483;34171305;34229054;34450313;34509645;34561969;34711807;34932366;35051231;35132862;35318648;35580925;36010968;36215666;36241641;36284347;37938771;38014887", "class_list": "", "function": "Age-related neurodegeneration and cognitive impairments of NRMT1 knockout mice are preceded by misregulation of RB and abnormal neural stem cell development. Publication Status: Online-Only, [RefSeq, PubMed]; Discovery of the first alpha-N-methyltransferase, which we named N-terminal RCC1 methyltransferase (NRMT)., [RefSeq, PubMed]; Distributive alpha-N-methyltransferase that methylates the N-terminus of target proteins containing the N-terminal motif [Ala/Gly/Pro/Ser]-Pro-Lys when the initiator Met is cleaved. Specifically catalyzes mono-, di- or tri-methylation of the exposed alpha-amino group of the Ala, Gly or Ser residue in the [Ala/Gly/Ser]-Pro-Lys motif and mono- or di-methylation of Pro in the Pro-Pro-Lys motif. Some of the substrates may be primed by NTMT2-mediated monomethylation (PubMed:24090352). Catalyzes the trimethylation of the N-terminal Gly in CENPA (after removal of Met-1). Responsible for the N-terminal methylation of KLHL31, MYL2, MYL3, RB1, RCC1, RPL23A and SET. Required during mitosis for normal bipolar spindle formation and chromosome segregation via its action on RCC1., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Methyltransferase-like protein 11A promotes migration of cervical cancer cells via up-regulating ELK3., [RefSeq, PubMed]; Modulation of N-terminal methyltransferase 1 by an N(6)-methyladenosine-based epitranscriptomic mechanism., [RefSeq, PubMed]; Pan-cancer analysis reveals the pro-oncogenic role of N6-methyladenosine (m6A)-regulated NTMT1 in head and neck squamous cell carcinoma., [RefSeq, PubMed]; Probing the Plasticity in the Active Site of Protein N-terminal Methyltransferase 1 Using Bisubstrate Analogues., [RefSeq, PubMed]; The METTL11A gene encodes an N-terminal methyltransferase for the RAN (MIM 601179) guanine nucleotide exchange factor regulator of chromosome condensation 1 (RCC1; MIM 179710). METTL11A enzyme alpha-N-methylates other protein targets such as SET (MIM 600960) and RB (MIM 180200).[supplied by OMIM, 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": 3, "reported_mutagensis": 20, "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": "A8K4J2;A8K8G7;Q5SZB9;Q9UI28", "ec_number_list": [ { "id": "2.1.1.244", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.244", "type": "external" } ], "go_molecular_function": "GO:0071885 N-terminal protein N-methyltransferase activity;GO:0008276 protein methyltransferase activity;GO:0042054 histone methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0018013 N-terminal peptidyl-glycine methylation;GO:0018016 N-terminal peptidyl-proline dimethylation;GO:0035572 N-terminal peptidyl-serine dimethylation;GO:0035573 N-terminal peptidyl-serine trimethylation;GO:0007059 chromosome segregation", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q9BV86-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BW91-1", "uniprot_id": [ { "id": "NUDT9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BW91", "type": "external" } ], "mass": 39125.0, "length": 350, "protein_name": "ADP-ribose pyrophosphatase", "gene_name": "NUDT9", "organism": "Human", "refseq_name": "ADP-ribose pyrophosphatase isoform c precursor", "refseq_ac": [ { "id": "NP_001234940", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001234940", "type": "external" } ], "gene_names_uniprotkb": "NUDT9; NUDT10; PRO9771; PSEC0099", "gene_names_refseq": "NUDT9", "protein_names_uniprotkb": "ADP-ribose pyrophosphatase; 3.6.1.13; ADP-ribose diphosphatase; ADP-ribose phosphohydrolase; ADPR-PPase; Adenosine diphosphoribose pyrophosphatase; Nucleoside diphosphate-linked moiety X motif 9; Nudix motif 9", "protein_names_refseq": "ADP-ribose diphosphatase; ADP-ribose phosphohydrolase; ADP-ribose pyrophosphatase isoform c precursor; ADP-ribose pyrophosphatase, mitochondrial; ADP-ribose pyrosphosphatase NUDT9; ADPR-PPase; adenosine diphosphoribose pyrophosphatase; nucleoside diphosphate linked moiety X-type motif 9; nudix (nucleoside diphosphate linked moiety X)-type motif 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:53343)", "pathway_count": 1, "publication_count": 78, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11385575;11825615;12427752;12897971;12948489;12975309;16303743;17924679;18669648;19415658;19664994;20068231;22706990;23186163;23481700;24714562;24715725;25418920;25576301;26154972;26375851;26758079;26992070;27600516;27846572;27862975;27920218;28228285;28467828;28649982;28832583;28834231;28904123;29242379;29314611;29493099;29508533;29557506;29632711;29786170;30190133;30315122;30410026;30429286;30484775;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33936100;33968037;34171305;34189846;34357683;34561969;34932366;35051231;35251023;35580925;36241641;36284347;37343711", "class_list": "", "function": "ADP-ribose reactive NUDT9 NUDIX hydrolase isoforms modulate HIF-1alpha in cancer cells, [RefSeq, PubMed]; Analysis of ligand binding and resulting conformational changes in pyrophosphatase NUDT9., [RefSeq, PubMed]; Analysis of the human NUDT9 gene and its potential alternative transcripts along with detailed studies of the enzymatic properties and cell biological behavior of human NUDT9 protein, [RefSeq, PubMed]; Data report the crystal structures of NUDT9 in the presence and in the absence of the reaction product ribose 5'-phosphate., [RefSeq, PubMed]; Hydrolyses ADP-ribose to AMP and ribose-5-phosphate, [RefSeq, PubMed]; Hydrolyzes ADP-ribose (ADPR) to AMP and ribose 5'-phosphate (PubMed:11385575, PubMed:37343711). Has also a weak phosphohydrolase activity against NADH and FAD (in vitro) (PubMed:37343711)., [UniProtKB, PubMed, PubMed]; Hydrolyzes ADP-ribose (ADPR) to AMP and ribose 5'-phosphate. Has also a weak phosphohydrolase activity against NADH and FAD (in vitro)., [UniProtKB, UniProtKB]; NUDT6 and NUDT9, two mitochondrial members of the NUDIX family, have distinct hydrolysis activities., [RefSeq, PubMed]; The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 9562, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q8NBN1;Q8NCB9;Q8NG25", "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:0019144 ADP-sugar diphosphatase activity;GO:0047631 ADP-ribose diphosphatase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0055086 nucleobase-containing small molecule metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9BW91-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZQ4-1", "uniprot_id": [ { "id": "NMNA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZQ4", "type": "external" } ], "mass": 34439.0, "length": 307, "protein_name": "Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2", "gene_name": "NMNAT2", "organism": "Human", "refseq_name": "nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform 1", "refseq_ac": [ { "id": "NP_055854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055854", "type": "external" } ], "gene_names_uniprotkb": "NMNAT2; C1orf15; KIAA0479", "gene_names_refseq": "C1orf15; NMNAT2; PNAT2", "protein_names_uniprotkb": "Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2; 2.7.7.18; 2.7.7.1; NMN adenylyltransferase 2; NMN/NaMN adenylyltransferase 2; NaMN adenylyltransferase 2; Nicotinamide mononucleotide adenylyltransferase 2; Nicotinate-nucleotide adenylyltransferase 2", "protein_names_refseq": "NMN adenylyltransferase 2; NMN/NaMN adenylyltransferase 2; NaMN adenylyltransferase 2; nicotinamide mononucleotide adenylyltransferase 2; nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2 isoform 1; nicotinamide/nicotinic acid mononucleotide adenylyltransferase 2; nicotinate-nucleotide adenylyltransferase 2; pyridine nucleotide adenylyltransferase 2", "tax_id": 9606, "disease": "hypertrophic cardiomyopathy (Disease Ontology:DOID:11984)", "pathway": " (hsa:23057); (R-HSA-196807)", "pathway_count": 2, "publication_count": 60, "publication_id_list": "10331643;10613898;11248244;11318611;11594753;11788603;11866528;11991719;12359228;12547821;12574164;12790796;13563527;14516279;14966140;15090606;15137942;15381699;15674325;16118205;1637327;16690024;17402747;17604275;17641676;17868694;17914902;18411268;19531469;20388704;2129526;21504897;21699903;21933152;21994945;22701565;22822066;23212377;23230272;24717514;24847004;25531177;29643511;29997255;30429286;31132363;31136762;31844290;32906142;33087354;34314702;35580925;38222451;4349867;8182091;8289818;8527488;8575745;8809081;9473669", "class_list": "", "function": "Cloning, isolation and kinetics, [RefSeq, PubMed]; Downregulation of SIRT6 and NMNAT2 is associated with proliferative diabetic retinopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Nicotinamide 5'-mononucleotide adenylyltransferase-2 is markedly expressed in the islets of Langerhans., [RefSeq, PubMed]; Nicotinamide/nicotinate-nucleotide adenylyltransferase that acts as an axon maintenance factor (By similarity). Axon survival factor required for the maintenance of healthy axons: acts by delaying Wallerian axon degeneration, an evolutionarily conserved process that drives the loss of damaged axons (By similarity). Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP (PubMed:16118205, PubMed:17402747). Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate but with a lower efficiency (PubMed:16118205, PubMed:17402747). Cannot use triazofurin monophosphate (TrMP) as substrate (PubMed:16118205, PubMed:17402747). Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+) (PubMed:16118205, PubMed:17402747). For the pyrophosphorolytic activity prefers NAD(+), NADH and NaAD as substrates and degrades nicotinic acid adenine dinucleotide phosphate (NHD) less effectively (PubMed:16118205, PubMed:17402747). Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+) (PubMed:16118205, PubMed:17402747). Also acts as an activator of ADP-ribosylation by supporting the catalytic activity of PARP16 and promoting mono-ADP-ribosylation of ribosomes by PARP16 (PubMed:34314702). May be involved in the maintenance of axonal integrity (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; We identified a homozygous missense mutation in the gene encoding NAD synthesizing enzyme NMNAT2 in two siblings with childhood onset polyneuropathy with erythromelalgia, [RefSeq, PubMed]; We present the first human variants in NMNAT2 identified in two fetuses with severe skeletal muscle hypoplasia and fetal akinesia. Functional studies in vitro showed that the mutations impair both NMNAT2 NAD(+) synthase and chaperone functions. This work identifies the critical role of NMNAT2 in human development., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "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": "O75067;Q5T1Q3;Q8WU99;Q96QW1", "ec_number_list": [ { "id": "2.5.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.25", "type": "external" }, { "id": "2.7.7.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.1", "type": "external" }, { "id": "2.7.7.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.18", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004515 nicotinate-nucleotide adenylyltransferase activity;GO:0000309 nicotinamide-nucleotide adenylyltransferase activity;GO:0140768 protein ADP-ribosyltransferase-substrate adaptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0030424 axon;GO:0045202 synapse", "go_biological_process": "GO:0006741 NADP+ biosynthetic process;GO:0061564 axon development;GO:2000766 negative regulation of cytoplasmic translation;GO:0009165 nucleotide biosynthetic process;GO:0034354 'de novo' NAD+ biosynthetic process from L-tryptophan", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9BZQ4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9C056-1", "uniprot_id": [ { "id": "NKX62_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9C056", "type": "external" } ], "mass": 29263.0, "length": 277, "protein_name": "Homeobox protein Nkx-6.2", "gene_name": "NKX6-2", "organism": "Human", "refseq_name": "homeobox protein Nkx-6.2", "refseq_ac": [ { "id": "NP_796374", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_796374", "type": "external" } ], "gene_names_uniprotkb": "NKX6-2; GTX; NKX6B", "gene_names_refseq": "GTX; NKX6-2; NKX6.2; NKX6B; SPAX8", "protein_names_uniprotkb": "Homeobox protein Nkx-6.2; Homeobox protein NK-6 homolog B", "protein_names_refseq": "NK homeobox family 6, B; NK6 transcription factor related, locus 2; glial and testis-specific homeobox protein; homeobox 6B; homeobox protein NK-6 homolog B; homeobox protein Nkx-6.2", "tax_id": 9606, "disease": "spastic ataxia 8 (Disease Ontology:DOID:0080252); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:84504)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11210186;28575651;31154438;31509304;32004679;32246862;33009998;33770499", "class_list": "", "function": "A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations., [RefSeq, PubMed]; Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8., [RefSeq, PubMed]; Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination., [RefSeq, PubMed]; NK6 Homeobox 2 Regulated Gastrokin-2 Suppresses Gastric Cancer Cell Proliferation and Invasion via Akt Signaling Pathway., [RefSeq, PubMed]; NKX6-2 mutations should be considered in the differential diagnosis of spastic ataxia and hypomyelination., [RefSeq, PubMed]; One-step Reprogramming of Human Fibroblasts into Oligodendrocyte-like Cells by SOX10, OLIG2, and NKX6.2., [RefSeq, PubMed]; Transcription factor with repressor activity involved in the regulation of axon-glial interactions at myelin paranodes in oligodendrocytes. Binds to the consensus DNA sequence 5'-(A/T)TTAATGA-3'. In oligodendrocytes, binds to MBP and PLP1 promoter regions., [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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JSF3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;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_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0031641 regulation of myelination", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9C056-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZK7-1", "uniprot_id": [ { "id": "O11A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZK7", "type": "external" } ], "mass": 35250.0, "length": 315, "protein_name": "Olfactory receptor 11A1", "gene_name": "OR11A1", "organism": "Human", "refseq_name": "olfactory receptor 11A1", "refseq_ac": [ { "id": "NP_039225", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_039225", "type": "external" } ], "gene_names_uniprotkb": "OR11A1; OR11A2", "gene_names_refseq": "6M1-18; OR11A1; OR11A2; dJ994E9.6; hs6M1-18", "protein_names_uniprotkb": "Olfactory receptor 11A1; Hs6M1-18; Olfactory receptor 11A2; Olfactory receptor OR6-30", "protein_names_refseq": "olfactory receptor 11A1; olfactory receptor 11A2; olfactory receptor OR6-30; olfactory receptor, family 11, subfamily A, member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:26531); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 24, "publication_id_list": "10460249;12637542;14983052;15598656;17601748;17873857;17973576;19474308;19581598;19851445;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986;32488085", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A2BF33;A6NFQ3;B0S7T2;Q5ST16;Q9GZK8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9GZK7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZY0-1", "uniprot_id": [ { "id": "NXF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZY0", "type": "external" } ], "mass": 71627.0, "length": 626, "protein_name": "Nuclear RNA export factor 2", "gene_name": "NXF2B; NXF2", "organism": "Human", "refseq_name": "nuclear RNA export factor 2", "refseq_ac": [ { "id": "NP_001093156", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093156", "type": "external" } ], "gene_names_uniprotkb": "NXF2B; NXF2; TAPL2", "gene_names_refseq": "NXF2B; bA353J17.1", "protein_names_uniprotkb": "Nuclear RNA export factor 2; CT39; Cancer/testis antigen 39; TAP-like protein 2; TAPL-2", "protein_names_refseq": "TAP-like protein 2; cancer/testis antigen 39; nuclear RNA export factor 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56001); (hsa:728343); (R-HSA-159236)", "pathway_count": 3, "publication_count": 40, "publication_id_list": "10228171;10323864;10489353;10567585;10668806;11073998;11256625;11259411;11259602;11279525;11566096;11579093;11739738;11756420;12093754;12704671;16314397;17000901;18364396;18411249;18423201;18452278;20129943;22706990;22893130;23186163;23299939;23826332;25662211;25892735;28228285;29557506;30315122;30379171;31530632;31844290;32387766;32488085;9618489;9660949", "class_list": "", "function": "Involved in the export of mRNA from the nucleus to the cytoplasm., [UniProtKB]; This gene encodes a member of a family of nuclear RNA export proteins. The encoded protein is associated with the nuclear envelope and aids in the export of mRNAs. There is a closely related paralog of this gene located adjacent on chromosome X and on the opposite strand. [provided by RefSeq, Jun 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": 3, "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": "Q9BXU4;Q9NSS1;Q9NX66", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0042272 nuclear RNA export factor complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus;GO:0006406 mRNA export from nucleus;GO:0050658 RNA transport", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q9GZY0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1B4-1", "uniprot_id": [ { "id": "NXF5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1B4", "type": "external" } ], "mass": 45628.0, "length": 397, "protein_name": "Nuclear RNA export factor 5", "gene_name": "NXF5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "NXF5; TAPL1", "gene_names_refseq": "", "protein_names_uniprotkb": "Nuclear RNA export factor 5; TAP-like protein 1; TAPL-1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 5, "publication_id_list": "11566096;14759258;19664994;29557506;31844290", "class_list": "", "function": "Could be involved in the export of mRNA from the nucleus to the cytoplasm. Could also have a role in polarized cytoplasmic transport and localization of mRNA in neurons., [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": 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": "A2RRM0;B1AV82;B1AV83;B1AV84;B1AV85;Q9H1B0;Q9H1B1;Q9H1B2;Q9H1B3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus;GO:0006406 mRNA export from nucleus;GO:0050658 RNA transport", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q9H1B4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H207-1", "uniprot_id": [ { "id": "O10A5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H207", "type": "external" } ], "mass": 35519.0, "length": 317, "protein_name": "Olfactory receptor 10A5", "gene_name": "OR10A5", "organism": "Human", "refseq_name": "olfactory receptor 10A5", "refseq_ac": [ { "id": "NP_835462", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835462", "type": "external" } ], "gene_names_uniprotkb": "OR10A5; OR10A1", "gene_names_refseq": "JCG6; OR10A1; OR10A5; OR11-403", "protein_names_uniprotkb": "Olfactory receptor 10A5; HP3; OR11-403; Olfactory receptor 10A1; Olfactory receptor 11-403; Olfactory receptor-like protein JCG6", "protein_names_refseq": "HP3; olfactory receptor 10A1; olfactory receptor 10A5; olfactory receptor 11-403; olfactory receptor OR11-85; olfactory receptor, family 10, subfamily A, member 1; olfactory receptor-like protein JCG6", "tax_id": 9606, "disease": "", "pathway": " (hsa:144124); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "11416212;11705801;24800820;27515280;31974307;32066986;32350084;35251023;35580925;9787077", "class_list": "", "function": "Odorant receptor (Potential). May be involved in taste perception., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": "O95223;Q52M66;Q96R21;Q96R22", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell;GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9H207-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2C5-1", "uniprot_id": [ { "id": "O52A5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2C5", "type": "external" } ], "mass": 35955.0, "length": 316, "protein_name": "Olfactory receptor 52A5", "gene_name": "OR52A5", "organism": "Human", "refseq_name": "olfactory receptor 52A5", "refseq_ac": [ { "id": "NP_001005160", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005160", "type": "external" } ], "gene_names_uniprotkb": "OR52A5", "gene_names_refseq": "OR11-33; OR52A5", "protein_names_uniprotkb": "Olfactory receptor 52A5; Odorant receptor HOR3'beta5; Olfactory receptor OR11-33", "protein_names_refseq": "odorant receptor HOR3'beta5; olfactory receptor 52A5; olfactory receptor OR11-33", "tax_id": 9606, "disease": "", "pathway": " (hsa:390054); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "11121057;14983052;24800820;27515280;31974307;32066986;32265295;33592498", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9H2C5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H341-1", "uniprot_id": [ { "id": "O51M1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H341", "type": "external" } ], "mass": 36669.0, "length": 326, "protein_name": "Olfactory receptor 51M1", "gene_name": "OR51M1", "organism": "Human", "refseq_name": "olfactory receptor 51M1", "refseq_ac": [ { "id": "NP_001004756", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004756", "type": "external" } ], "gene_names_uniprotkb": "OR51M1", "gene_names_refseq": "HOR5'Beta7; OR11-40; OR51M1", "protein_names_uniprotkb": "Olfactory receptor 51M1; Odorant receptor HOR5'beta7; Olfactory receptor OR11-40", "protein_names_refseq": "odorant receptor HOR5'beta7; olfactory receptor 51M1; olfactory receptor OR11-40", "tax_id": 9606, "disease": "", "pathway": " (hsa:390059); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "11121057;14983052;24800820;27515280;29314611;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IF80", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell;GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9H341-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H346-1", "uniprot_id": [ { "id": "O52D1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H346", "type": "external" } ], "mass": 35122.0, "length": 318, "protein_name": "Olfactory receptor 52D1", "gene_name": "OR52D1", "organism": "Human", "refseq_name": "olfactory receptor 52D1", "refseq_ac": [ { "id": "NP_001005163", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005163", "type": "external" } ], "gene_names_uniprotkb": "OR52D1", "gene_names_refseq": "OR11-43; OR52D1", "protein_names_uniprotkb": "Olfactory receptor 52D1; Odorant receptor HOR5'beta14; Olfactory receptor OR11-43", "protein_names_refseq": "HOR 5'Beta14; odorant receptor HOR5'beta14; olfactory receptor 52D1; olfactory receptor OR11-43", "tax_id": 9606, "disease": "", "pathway": " (hsa:390066); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "11121057;14983052;20677014;24800820;27515280;31974307;32066986;33323464", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B9EGY9;Q6IFI6", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9H346-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZ94-1", "uniprot_id": [ { "id": "NLGN3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZ94", "type": "external" } ], "mass": 93895.0, "length": 848, "protein_name": "Neuroligin-3", "gene_name": "NLGN3", "organism": "Human", "refseq_name": "neuroligin-3 isoform 3 precursor", "refseq_ac": [ { "id": "NP_001160132", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001160132", "type": "external" } ], "gene_names_uniprotkb": "NLGN3; KIAA1480; NL3", "gene_names_refseq": "HNL3; NLGN3", "protein_names_uniprotkb": "Neuroligin-3; Gliotactin homolog", "protein_names_refseq": "gliotactin homolog; neuroligin-3 isoform 3 precursor", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); sciatic neuropathy (Disease Ontology:DOID:11446); autistic disorder (Disease Ontology:DOID:12849); autism, susceptibility to, X-linked 1 (MONDO:MONDO:0010321)", "pathway": " (hsa:54413); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10767552;11237011;11604393;12669065;15150161;15152050;15540461;15620359;16242404;16624946;16846852;17897391;18755801;18812509;18829961;19926856;20034102;20064387;20064388;20519524;21282647;22898188;25378172;27600516;29557506;30524438;31154438;31222486;31844290;31848261;33592498;33912179;33968037;34087483;35051231;36215666;36810932;37880221;38254206;38272450;7695896;7736595;8576240;9069287;9278515;9808458;9927700", "class_list": "glycogene", "function": "Autism-linked NLGN3 is a key regulator of gonadotropin-releasing hormone deficiency., [RefSeq, PubMed]; Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and may mediate its effects by clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. May also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system (By similarity)., [UniProtKB, PubMed]; Glucocorticoids rescue cell surface trafficking of R451C Neuroligin3 and enhance synapse formation., [RefSeq, PubMed]; Neuron-secreted NLGN3 ameliorates ischemic brain injury via activating Galphai1/3-Akt signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders, [RefSeq, PubMed]; Stabilization of KPNB1 by deubiquitinase USP7 promotes glioblastoma progression through the YBX1-NLGN3 axis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 649, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RBK1;D2X2H6;D3DVV0;D3DVV1;Q86V51;Q8NCD0;Q9NZ95;Q9NZ96;Q9NZ97;Q9P248", "ec_number_list": [], "go_molecular_function": "GO:0050839 cell adhesion molecule binding;GO:0097110 scaffold protein binding;GO:0042043 neurexin family protein binding;GO:0038023 signaling receptor activity;GO:0098631 cell adhesion mediator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0030054 cell junction;GO:0030425 dendrite", "go_biological_process": "GO:0060024 rhythmic synaptic transmission;GO:0099054 presynapse assembly;GO:0097104 postsynaptic membrane assembly;GO:0007612 learning;GO:0030534 adult behavior", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9NZ94-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000011001.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKK6-1", "uniprot_id": [ { "id": "NXT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKK6", "type": "external" } ], "mass": 15847.0, "length": 140, "protein_name": "NTF2-related export protein 1", "gene_name": "NXT1", "organism": "Human", "refseq_name": "NTF2-related export protein 1", "refseq_ac": [ { "id": "NP_037380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037380", "type": "external" } ], "gene_names_uniprotkb": "NXT1", "gene_names_refseq": "MTR2; NXT1; P15", "protein_names_uniprotkb": "NTF2-related export protein 1; Protein p15", "protein_names_refseq": "NTF2-like export factor 1; NTF2-related export protein 1; NTX2-like export factor1; NUTF-like export factor 1; protein p15", "tax_id": 9606, "disease": "", "pathway": " (hsa:29107); (R-HSA-159236)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10228171;10323864;10489353;10567585;10668806;10848583;11073998;11256625;11259411;11259602;11579093;11583626;11739738;11756420;12093754;14729961;16314397;17000901;18364396;18411249;18423201;19165146;20129943;22121020;22893130;23299939;23826332;26992070;28218747;28228285;28832583;29242379;29437277;30315122;30410026;31844290;32157095;32502341;32983136;33691108;33717175;33968037;34019948;34171305;35051231;39894887;9618489;9660949", "class_list": "", "function": "Stimulator of protein export for NES-containing proteins (PubMed:10567585). Also plays a role in the nuclear export of U1 snRNA, tRNA, and mRNA (PubMed:10848583). The NXF1-NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5 (PubMed:11259602, PubMed:19165146)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is located in the nuclear envelope. It has protein similarity to nuclear transport factor 2. This protein functions as a nuclear export factor in both RAN (Ras-related nuclear protein)- and CRM1 (required for chromosome region maintenance)-dependent pathways. It is found to stimulate the export of U1 snRNA in RAN- and CRM1-dependent pathways and the export of tRNA and mRNA in a CRM1-independent pathway. The encoded protein heterodimerizes with Tap protein and may regulate the ability of Tap protein to mediate nuclear mRNA export. The use of alternate polyadenylation sites has 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": 0, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding", "go_cellular_component": "GO:0042272 nuclear RNA export factor complex;GO:0005634 nucleus;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus;GO:0006406 mRNA export from nucleus;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q9UKK6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKL2-1", "uniprot_id": [ { "id": "O52A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKL2", "type": "external" } ], "mass": 35322.0, "length": 312, "protein_name": "Olfactory receptor 52A1", "gene_name": "OR52A1", "organism": "Human", "refseq_name": "olfactory receptor 52A1", "refseq_ac": [ { "id": "NP_036507", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036507", "type": "external" } ], "gene_names_uniprotkb": "OR52A1", "gene_names_refseq": "HPFH1OR; OR52A1", "protein_names_uniprotkb": "Olfactory receptor 52A1; HPFH1OR; Odorant receptor HOR3'beta4; Olfactory receptor OR11-319", "protein_names_refseq": "odorant receptor HOR3'beta4; olfactory receptor 52A1; olfactory receptor OR11-319", "tax_id": 9606, "disease": "", "pathway": " (hsa:23538); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 11, "publication_id_list": "10512676;11121057;14983052;20201926;24800820;27515280;31974307;32066986;33141586;33392160;35051231", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": "Q6IF31", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9UKL2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5P0-1", "uniprot_id": [ { "id": "O51B4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5P0", "type": "external" } ], "mass": 34912.0, "length": 310, "protein_name": "Olfactory receptor 51B4", "gene_name": "OR51B4", "organism": "Human", "refseq_name": "olfactory receptor 51B4", "refseq_ac": [ { "id": "NP_149419", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149419", "type": "external" } ], "gene_names_uniprotkb": "OR51B4", "gene_names_refseq": "HOR5'Beta1; OR51B4", "protein_names_uniprotkb": "Olfactory receptor 51B4; Odorant receptor HOR5'beta1", "protein_names_refseq": "odorant receptor HOR5'beta1; olfactory receptor 51B4", "tax_id": 9606, "disease": "", "pathway": " (hsa:79339); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "10220430;11121057;24800820;27515280;29557506;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": "A7MAV5;Q6NTD7", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell;GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9Y5P0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DN26-1", "uniprot_id": [ { "id": "PAL4F_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DN26", "type": "external" } ], "mass": 18197.0, "length": 164, "protein_name": "Peptidyl-prolyl cis-trans isomerase A-like 4F", "gene_name": "PPIAL4F", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PPIAL4F", "gene_names_refseq": "", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase A-like 4F; 5.2.1.8; PPIase A-like 4F", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:728945); (hsa:730262)", "pathway_count": 2, "publication_count": 2, "publication_id_list": "29557506;31611695", "class_list": "", "function": "PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides., [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": 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": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0016018 cyclosporin A binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "P0DN26-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30954-1", "uniprot_id": [ { "id": "O10J1_HUMAN", "url": "https://www.uniprot.org/uniprot/P30954", "type": "external" } ], "mass": 35925.0, "length": 320, "protein_name": "Olfactory receptor 10J1", "gene_name": "OR10J1", "organism": "Human", "refseq_name": "olfactory receptor 10J1", "refseq_ac": [ { "id": "NP_036483", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036483", "type": "external" } ], "gene_names_uniprotkb": "OR10J1", "gene_names_refseq": "HGMP07J; HSHGMP07J; OR10J1", "protein_names_uniprotkb": "Olfactory receptor 10J1; Olfactory receptor OR1-26; Olfactory receptor-like protein HGMP07J", "protein_names_refseq": "olfactory receptor 10J1; olfactory receptor OR1-26; olfactory receptor-like protein HGMP07J", "tax_id": 9606, "disease": "", "pathway": " (hsa:26476); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "11237011;1370859;14983052;24800820;27515280;31974307;32066986;34087483", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q2M1M8;Q5VSV1;Q6IET5;Q96R56", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007338 single fertilization;GO:0007606 sensory perception of chemical stimulus;GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "P30954-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P58182-1", "uniprot_id": [ { "id": "O12D2_HUMAN", "url": "https://www.uniprot.org/uniprot/P58182", "type": "external" } ], "mass": 34813.0, "length": 307, "protein_name": "Olfactory receptor 12D2", "gene_name": "OR12D2", "organism": "Human", "refseq_name": "olfactory receptor 12D2", "refseq_ac": [ { "id": "NP_039224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_039224", "type": "external" } ], "gene_names_uniprotkb": "OR12D2", "gene_names_refseq": "DJ994E9.8; HS6M1-20; OR12D2", "protein_names_uniprotkb": "Olfactory receptor 12D2; Hs6M1-20; Olfactory receptor OR6-28", "protein_names_refseq": "olfactory receptor 12D2; olfactory receptor OR6-28", "tax_id": 9606, "disease": "", "pathway": " (hsa:26529); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "14983052;19833159;19851445;24715725;24800820;27515280;28218747;29769354;31974307;32066986", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 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": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B0S862;Q5SUN9;Q6IET9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "P58182-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0S3-1", "uniprot_id": [ { "id": "ORML1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0S3", "type": "external" } ], "mass": 17371.0, "length": 153, "protein_name": "ORM1-like protein 1", "gene_name": "ORMDL1", "organism": "Human", "refseq_name": "ORM1-like protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001121622", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121622", "type": "external" } ], "gene_names_uniprotkb": "ORMDL1; HSPC202", "gene_names_refseq": "ORMDL1", "protein_names_uniprotkb": "ORM1-like protein 1; Adoplin-1", "protein_names_refseq": "ORM1-like protein 1 isoform 1; ORM1-like protein 1; adoplin-1", "tax_id": 9606, "disease": "asthma (Disease Ontology:DOID:2841)", "pathway": " (hsa:94101); (R-HSA-1660661)", "pathway_count": 2, "publication_count": 116, "publication_id_list": "10722674;10751414;10802064;10947957;11237011;11937514;12093374;14685229;14685263;14976195;15063729;15328338;15337768;16100120;16118219;16571669;16793762;16895911;17023427;17050692;17331073;17355976;17449912;17591919;17928364;17982138;18165232;18165233;18184806;19005213;19233134;19416851;19506037;20061445;20110355;20182505;21620961;22424782;22517924;22970244;23066021;23180825;23481700;23602659;23754960;24569996;24782409;25395622;25418920;25576301;25788259;26154972;27313060;27600516;27846572;27920218;28228285;28575652;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29563527;29632711;29769354;29786170;30315122;30568303;31154438;31217245;31530632;31844290;31895563;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33145351;33298915;33537174;33592498;33691108;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34405274;34509645;35051231;35409383;35561310;36010968;36215666;36241641;36284347;36902339;36907437;37224812;37390971;4339164;4817756;9188692;9312549;9363775", "class_list": "", "function": "Adoplin-1/ORMDL-1 displays reduced expression in association with presenilin mutations; Adoplin-1 & two highly homologous genes (adoplin-2, -3) are a gene family that encodes transmembrane proteins that may play roles in gamma-secretase complex maturation, [RefSeq, PubMed]; Expression Patterns and Prognostic Values of ORMDL1 in Different Cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Expression of the ORMDLS, modulators of serine palmitoyltransferase, is regulated by sphingolipids in mammalian cells., [RefSeq, PubMed]; ORMDL1 downregulation modestly increased levels of sphingosine, S1P, and ceramide in HepG2 cells., [RefSeq, PubMed]; ORMDL1, ORMDL2 and ORMDL3 mediate the feedback response in ceramide biosynthesis., [RefSeq, PubMed]; Plays an essential role in the homeostatic regulation of sphingolipid de novo biosynthesis by modulating the activity of the serine palmitoyltransferase (SPT) in response to ceramide levels (PubMed:20182505). When complexed to SPT, the binding of ceramides to its N-terminus stabilizes a conformation that block SPT substrate entry, hence preventing SPT catalytic activity. Through this mechanism, maintains ceramide levels at sufficient concentrations for the production of complex sphingolipids, but which prevents the accumulation of ceramides to levels that trigger apoptosis (By similarity)., [UniProtKB, PubMed, 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": "B2R8W3;D3DPH9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0017059 serine palmitoyltransferase complex;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:1900060 negative regulation of ceramide biosynthetic process;GO:0030148 sphingolipid biosynthetic process;GO:0006672 ceramide metabolic process;GO:0090156 intracellular sphingolipid homeostasis;GO:2000303 regulation of ceramide biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 11.7, "record_id": "Q9P0S3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGN2-1", "uniprot_id": [ { "id": "O10S1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGN2", "type": "external" } ], "mass": 36501.0, "length": 331, "protein_name": "Olfactory receptor 10S1", "gene_name": "OR10S1", "organism": "Human", "refseq_name": "olfactory receptor 10S1", "refseq_ac": [ { "id": "NP_001004474", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004474", "type": "external" } ], "gene_names_uniprotkb": "OR10S1", "gene_names_refseq": "OR10S1; OR11-279", "protein_names_uniprotkb": "Olfactory receptor 10S1; Olfactory receptor OR11-279", "protein_names_refseq": "olfactory receptor 10S1; olfactory receptor OR11-279", "tax_id": 9606, "disease": "", "pathway": " (hsa:219873); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 25, "publication_id_list": "10460249;11237011;14983052;15598656;17601748;17873857;17973576;19474308;19581598;24316890;24800820;25784876;25892735;25977809;26373539;27515280;27916747;27916748;28656349;29235485;29769354;31040214;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": "B9EH43;Q6IEV3;Q96R78", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8NGN2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGV5-1", "uniprot_id": [ { "id": "O13D1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGV5", "type": "external" } ], "mass": 39125.0, "length": 346, "protein_name": "Olfactory receptor 13D1", "gene_name": "OR13D1", "organism": "Human", "refseq_name": "olfactory receptor 13D1", "refseq_ac": [ { "id": "NP_001004484", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004484", "type": "external" } ], "gene_names_uniprotkb": "OR13D1", "gene_names_refseq": "OR13D1; OR9-15", "protein_names_uniprotkb": "Olfactory receptor 13D1; Olfactory receptor OR9-15", "protein_names_refseq": "olfactory receptor 13D1; olfactory receptor OR9-15", "tax_id": 9606, "disease": "", "pathway": " (hsa:286365); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986;34171305", "class_list": "", "function": "Odorant receptor., [UniProtKB, UniProtKB, UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": 4, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "A6NMZ5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MYP8-1", "uniprot_id": [ { "id": "CMA1B_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MYP8", "type": "external" } ], "mass": 27280.0, "length": 253, "protein_name": "Ciliary microtubule associated protein 1B", "gene_name": "CIMAP1B", "organism": "Human", "refseq_name": "ciliary microtubule associated protein 1B isoform 3", "refseq_ac": [ { "id": "NP_001014440", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014440", "type": "external" } ], "gene_names_uniprotkb": "CIMAP1B; ODF3B; ODF3L3", "gene_names_refseq": "CIMAP1B; FAP123; ODF3B; ODF3L3", "protein_names_uniprotkb": "Ciliary microtubule associated protein 1B; Outer dense fiber protein 3-like protein 3; Outer dense fiber protein 3B", "protein_names_refseq": "ciliary microtubule associated protein 1B isoform 3; orf2 5' to PD-ECGF/TP; outer dense fiber of sperm tails 3B; outer dense fiber protein 3-like protein 3; outer dense fiber protein 3B", "tax_id": 9606, "disease": "", "pathway": " (hsa:440836)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;18477386;19913121;25892735;27846572;29557506;31844290;33298915;33392160;33912179;35051231;39894887", "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": 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": "A0PK18", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0031514 motile cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "A8MYP8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWY5-1", "uniprot_id": [ { "id": "OLFL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWY5", "type": "external" } ], "mass": 45951.0, "length": 402, "protein_name": "Olfactomedin-like protein 1", "gene_name": "OLFML1", "organism": "Human", "refseq_name": "olfactomedin-like protein 1 isoform a precursor", "refseq_ac": [ { "id": "NP_940876", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940876", "type": "external" } ], "gene_names_uniprotkb": "OLFML1; PRO1126", "gene_names_refseq": "MVAL564; OLFML1; ONT2; UNQ564", "protein_names_uniprotkb": "Olfactomedin-like protein 1", "protein_names_refseq": "olfactomedin-like protein 1 isoform a precursor; olfactomedin-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:283298)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;15340161;18708057;25576301;27846572;29557506;29741879;29789417;30266405;30429286;31154438;31848261;33968037;34185709;35580925;37074911;37938771", "class_list": "", "function": "Mutation of OLFML1 leads to impaired osteoblast differentiation and abnormal development of bone tissue, [RefSeq, PubMed]; These findings suggest that hOLFML1 may play a significant role in the regulation of cell proliferation in vitro., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 8818, "biomarker_type": "", "glycan_count": 36, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B4DP03;Q569G4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q6UWY5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "I0J062-1", "uniprot_id": [ { "id": "PANO1_HUMAN", "url": "https://www.uniprot.org/uniprot/I0J062", "type": "external" } ], "mass": 22842.0, "length": 215, "protein_name": "Proapoptotic nucleolar protein 1", "gene_name": "PANO1", "organism": "Human", "refseq_name": "proapoptotic nucleolar protein 1", "refseq_ac": [ { "id": "XP_034607700", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_034607700", "type": "external" } ], "gene_names_uniprotkb": "PANO1; PANO", "gene_names_refseq": "PANO1", "protein_names_uniprotkb": "Proapoptotic nucleolar protein 1", "protein_names_refseq": "proapoptotic nucleolar protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:101927423)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "22094112", "class_list": "", "function": "Apoptosis-inducing protein that modulates the tumor suppressor function of CDKN2A/p14ARF. Enhances the stability of CDKN2A/p14ARF protein by protecting it from degradation. May act as a tumor suppressor (PubMed:22094112)., [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": 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_cellular_component": "GO:0005730 nucleolus", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0031647 regulation of protein stability;GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "I0J062-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96RD3-1", "uniprot_id": [ { "id": "O52E6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96RD3", "type": "external" } ], "mass": 35524.0, "length": 313, "protein_name": "Olfactory receptor 52E6", "gene_name": "OR52E6", "organism": "Human", "refseq_name": "olfactory receptor 52E6", "refseq_ac": [ { "id": "NP_001005167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005167", "type": "external" } ], "gene_names_uniprotkb": "OR52E6", "gene_names_refseq": "OR11-58; OR52E6", "protein_names_uniprotkb": "Olfactory receptor 52E6; Olfactory receptor OR11-58", "protein_names_refseq": "olfactory receptor 52E6; olfactory receptor OR11-58", "tax_id": 9606, "disease": "", "pathway": " (hsa:390078); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "11237011;14983052;20677014;24715725;24800820;27515280;31974307;32066986;33392160", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Odorant receptor., [UniProtKB, UniProtKB, UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q6IFF8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q96RD3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43316-1", "uniprot_id": [ { "id": "PAX4_HUMAN", "url": "https://www.uniprot.org/uniprot/O43316", "type": "external" } ], "mass": 37833.0, "length": 350, "protein_name": "Paired box protein Pax-4", "gene_name": "PAX4", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PAX4", "gene_names_refseq": "", "protein_names_uniprotkb": "Paired box protein Pax-4", "protein_names_refseq": "", "tax_id": 9606, "disease": "maturity-onset diabetes of the young type 9 (Disease Ontology:DOID:0111107); diabetic ketoacidosis (Disease Ontology:DOID:1837); type 2 diabetes mellitus (Disease Ontology:DOID:9352); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:5078); (R-HSA-210746)", "pathway_count": 2, "publication_count": 13, "publication_id_list": "11237011;11263967;11723072;12403815;15509590;15834548;16511571;17426099;30379171;35051231;37883554;9439631;9753306", "class_list": "", "function": "DNA-binding transcription factor that plays a central role in the differentiation and development of type B pancreatic cells, which are located within the pancreatic islets of Langerhans responsible for the production and release of insulin (By similarity). Mainly acts as a transcription repressor that binds to a common element in the glucagon, insulin and somatostatin promoters and inhibits their expression (By similarity). Prevents differentiation of type A pancreatic cells, probably by repressing expression of ARX (By similarity). Competes with another transcription factor, PAX6, for this same promoter binding site (By similarity). Also plays a key role in intestinal enteroendocrine cell differentiation by (1) directly promoting differentiation of enterochromaffin cells and (2) preventing differentiation of other intestinal enteroendocrine cell types (PubMed:37883554). Prevents differentiation of other intestinal enteroendocrine cell types by repressing the expression of ARX, the master transcription factor for intestinal type-L, -N, -D, -I and -G enteroendocrine cell differentiation (PubMed:37883554)., [UniProtKB, UniProtKB, PubMed]; Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O95161;Q6B0H0", "ec_number_list": [], "go_molecular_function": "GO:0003677 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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin;GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030900 forebrain development;GO:0007420 brain development;GO:0060041 retina development in camera-type eye", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "O43316-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00480-1", "uniprot_id": [ { "id": "OTC_HUMAN", "url": "https://www.uniprot.org/uniprot/P00480", "type": "external" } ], "mass": 39935.0, "length": 354, "protein_name": "Ornithine transcarbamylase, mitochondrial", "gene_name": "OTC", "organism": "Human", "refseq_name": "ornithine transcarbamylase, mitochondrial precursor", "refseq_ac": [ { "id": "NP_000522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000522", "type": "external" } ], "gene_names_uniprotkb": "OTC", "gene_names_refseq": "OCTD; OTC1; OTCD; OTCase; OTC", "protein_names_uniprotkb": "Ornithine transcarbamylase, mitochondrial; 2.1.3.3; OTCase; Ornithine carbamoyltransferase, mitochondrial", "protein_names_refseq": "ornithine carbamoyltransferase, mitochondrial; ornithine transcarbamylase, mitochondrial precursor; ornithine transcarbamylase, mitochondrial", "tax_id": 9606, "disease": "alcohol-associated liver disease (Disease Ontology:DOID:0070658); cholestasis (Disease Ontology:DOID:13580); hepatocellular carcinoma (Disease Ontology:DOID:684); ornithine carbamoyltransferase deficiency (Disease Ontology:DOID:9271); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5009); (R-HSA-1268020); (R-HSA-70635); (R-HSA-9956551); (R-HSA-9956553)", "pathway_count": 5, "publication_count": 111, "publication_id_list": "10070622;10070627;10369256;10405441;10502831;10737985;10813810;10946359;11237011;11237854;11793468;11793483;12459178;12807890;12859189;12948741;1353535;14726512;1480464;15050968;15254020;15644312;15683237;16141327;16185709;1671317;16849325;16959974;1721894;17407445;17496144;17510655;17900240;18174896;18263583;18323623;18678864;19006241;19318352;19409522;19453276;19754428;19767391;19962426;20593814;21750375;22076378;2263616;23041349;2347583;23597483;23649895;23811401;24275569;24703693;2474822;25315652;2556444;25880248;26592762;26697887;2741942;2836378;29557506;3170748;31844290;35051231;37146589;3782067;38078487;38448019;38940639;3895227;39039447;518841;6249820;6372096;7474905;7627182;7649538;7860066;7951259;8019569;8081373;8081398;8099056;8112735;8295401;8364586;8530002;8544185;8807340;8830175;8898077;8956038;8956045;9007316;9056557;9065786;9143919;9256435;9266387;9266388;9286441;9427144;9452024;9452049;9452065;9686344;9686347;9852088", "class_list": "", "function": "Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation., [RefSeq, PubMed]; Catalyzes the second step of the urea cycle, the condensation of carbamoyl phosphate with L-ornithine to form L-citrulline (PubMed:2556444, PubMed:6372096, PubMed:8112735). The urea cycle ensures the detoxification of ammonia by converting it to urea for excretion (PubMed:2556444)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Revisiting the Roles of Catalytic Residues in Human Ornithine Transcarbamylase., [RefSeq, PubMed]; This nuclear gene encodes a mitochondrial matrix enzyme. The encoded protein is involved in the urea cycle which functions to detoxify ammonia into urea for excretion. Mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. [provided by RefSeq, May 2022]., [RefSeq]; Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 3, "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": "A8K9P2;D3DWB0;Q3KNR1;Q6B0I1;Q9NYJ5", "ec_number_list": [ { "id": "3.4.24.64", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.64", "type": "external" }, { "id": "2.1.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.3.3", "type": "external" }, { "id": "7.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.2.2", "type": "external" }, { "id": "5.6.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.7", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "1.16.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.3.1", "type": "external" }, { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "1.1.98.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.98.-", "type": "external" }, { "id": "2.5.1.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.39", "type": "external" } ], "go_molecular_function": "GO:0042301 phosphate ion binding;GO:0004585 ornithine carbamoyltransferase activity;GO:0005543 phospholipid binding;GO:0042802 identical protein binding;GO:0016597 amino acid binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0019240 citrulline biosynthetic process;GO:0055081 monoatomic anion homeostasis;GO:0006593 L-ornithine catabolic process;GO:0097272 ammonium homeostasis;GO:0001889 liver development", "synthesized_glycan_count": 0, "hit_score": 11.2, "record_id": "P00480-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P11182-1", "uniprot_id": [ { "id": "ODB2_HUMAN", "url": "https://www.uniprot.org/uniprot/P11182", "type": "external" } ], "mass": 53517.0, "length": 482, "protein_name": "Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial", "gene_name": "DBT", "organism": "Human", "refseq_name": "lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_001909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001909", "type": "external" } ], "gene_names_uniprotkb": "DBT; BCATE2; BCKDHE2", "gene_names_refseq": "BCATE2; BCKAD-E2; BCKADE2; BCKDH-E2; BCOADC-E2; DBT; E2B; E2", "protein_names_uniprotkb": "Lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial; 2.3.1.168; 52 kDa mitochondrial autoantigen of primary biliary cirrhosis; BCKAD-E2; BCKADE2; BCKDH-E2; BCOADC-E2; Branched chain 2-oxo-acid dehydrogenase complex component E2; Branched-chain alpha-keto acid dehydrogenase complex component E2; Dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex; Dihydrolipoamide branched chain transacylase; Dihydrolipoyllysine-residue (2-methylpropanoyl)transferase", "protein_names_refseq": "52 kDa mitochondrial autoantigen of primary biliary cirrhosis; BCKAD E2 subunit; E2 component of branched chain alpha-keto acid dehydrogenase complex; branched chain 2-oxo-acid dehydrogenase complex component E2; branched chain acyltransferase, E2 component; branched-chain alpha-keto acid dehydrogenase complex component E2; dihydrolipoamide acetyltransferase component of branched-chain alpha-keto acid dehydrogenase complex; dihydrolipoyl transacylase; dihydrolipoyllysine-residue (2-methylpropanoyl)transferase; lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial isoform 1 precursor; lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial; lipoamide acyltransferase component of mitochondrial branched-chain alpha-keto acid dehydrogenase complex; mitochondrial branched chain alpha-keto acid dehydrogenase transacylase subunit (E2b)", "tax_id": 9606, "disease": "maple syrup urine disease type IA (Disease Ontology:DOID:0061203); maple syrup urine disease type II (Disease Ontology:DOID:0061207); maple syrup urine disease (Disease Ontology:DOID:9269)", "pathway": " (hsa:1629); (R-HSA-70895); (R-HSA-9013407); (R-HSA-9837999); (R-HSA-9857492); (R-HSA-9859138); (R-HSA-9865113); (R-HSA-9865125); (R-HSA-9907570); (R-HSA-9912481); (R-HSA-9912529)", "pathway_count": 11, "publication_count": 138, "publication_id_list": "10103005;10448086;10745006;10832746;10947204;11013134;11181649;11237011;11264579;11368848;11389890;11406611;11687750;11738050;11809807;11839747;11923310;12198491;12269802;12359132;12434311;12696021;13416257;1420314;1429740;14623864;14752098;15166214;1527093;15342248;15522782;15576032;15870080;15946682;16023992;16115876;16141215;16442803;16770810;17028588;17064668;17101804;17297443;17371050;17579211;1847055;1885764;19411760;19570983;19608861;19841671;20184954;20851766;21846720;22152680;22262461;22291014;22589535;22710082;22956686;23086801;23201127;23485643;23555621;23931759;24256811;24275569;24315374;24341803;24449431;24520911;25576301;25892735;26251176;26504172;26923599;2708389;2742576;27496948;27642048;2837277;28377575;28396416;28510447;28757203;28832583;2908870;29242379;29301859;29393594;29510700;29632046;29769354;29786170;29932645;29987032;30120231;30429286;3082934;31042466;31327635;31435015;31695197;31848261;31871319;31998317;32265295;3245861;33257573;34704252;34943861;35657820;35870450;3597357;36629048;36729635;37383233;37453661;37481209;37558654;38665916;40914422;6928646;7356336;7543435;7623837;7883996;7918575;8037208;8824301;8968745;9141421;9165094;9214289;9540846;9582350;9621512;9889013", "class_list": "", "function": "Overexpression of DBT suppresses the aggressiveness of renal clear cell carcinoma and correlates with immune infiltration. Publication Status: Online-Only, [RefSeq, PubMed]; Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier., [RefSeq, PubMed]; The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]., [RefSeq]; The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 6, "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": "B2R811;Q5VVL8", "ec_number_list": [ { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "2.3.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.1", "type": "external" }, { "id": "1.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.1.3", "type": "external" }, { "id": "1.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.3", "type": "external" }, { "id": "6.4.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.4.1.3", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "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": "1.8.1.4", "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": "1.2.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.1", "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": "1.2.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.4", "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": "7.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:7.1.1.2", "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": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.3.1.61", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.61", "type": "external" }, { "id": "1.1.1.37", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.37", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "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": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.3.3.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.3.10", "type": "external" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "type": "external" }, { "id": "2.8.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.3.5", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.3.1", "type": "external" }, { "id": "1.2.4.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.4.2", "type": "external" }, { "id": "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": "1.1.1.35", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.35", "type": "external" }, { "id": "2.7.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.23", "type": "external" }, { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "2.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.13", "type": "external" }, { "id": "1.1.1.62", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.62", "type": "external" }, { "id": "1.1.1.239", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.239", "type": "external" }, { "id": "1.1.1.178", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.178", "type": "external" }, { "id": "1.1.1.53", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.53", "type": "external" }, { "id": "1.1.1.159", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.159", "type": "external" }, { "id": "4.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.3", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" }, { "id": "2.3.1.200", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.200", "type": "external" } ], "go_molecular_function": "GO:0043754 dihydrolipoamide branched chain acyltransferase activity;GO:0031625 ubiquitin protein ligase binding;GO:0016747 acyltransferase activity, transferring groups other than amino-acyl groups;GO:0016746 acyltransferase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005829 cytosol;GO:0042645 mitochondrial nucleoid;GO:0160157 branched-chain alpha-ketoacid dehydrogenase complex", "go_biological_process": "GO:0009083 branched-chain amino acid catabolic process;GO:0120552 branched-chain alpha-keto acid decarboxylation to branched-chain acyl-CoA", "synthesized_glycan_count": 0, "hit_score": 14.1, "record_id": "P11182-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14555-1", "uniprot_id": [ { "id": "PA2GA_HUMAN", "url": "https://www.uniprot.org/uniprot/P14555", "type": "external" } ], "mass": 16083.0, "length": 144, "protein_name": "Phospholipase A2, membrane associated", "gene_name": "PLA2G2A", "organism": "Human", "refseq_name": "phospholipase A2, membrane associated precursor", "refseq_ac": [ { "id": "NP_000291", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000291", "type": "external" } ], "gene_names_uniprotkb": "PLA2G2A; PLA2B; PLA2L; RASF-A", "gene_names_refseq": "MOM1; PLA2B; PLA2G2A; PLA2L; PLA2S; PLA2; PLAS1; sPLA2", "protein_names_uniprotkb": "Phospholipase A2, membrane associated; 3.1.1.4; GIIC sPLA2; Group IIA phospholipase A2; NPS-PLA2; Non-pancreatic secretory phospholipase A2; Phosphatidylcholine 2-acylhydrolase 2A", "protein_names_refseq": "GIIC sPLA2; NPS-PLA2; group IIA phospholipase A2; non-pancreatic secretory phospholipase A2; phosphatidylcholine 2-acylhydrolase 2A; phospholipase A2, group IIA (platelets, synovial fluid); phospholipase A2, membrane associated precursor; phospholipase A2, membrane associated", "tax_id": 9606, "disease": "cholecystolithiasis (Disease Ontology:DOID:11151); allergic conjunctivitis (Disease Ontology:DOID:11204); adult respiratory distress syndrome (Disease Ontology:DOID:11394); depressive disorder (Disease Ontology:DOID:1596); human immunodeficiency virus infectious disease (Disease Ontology:DOID:526); gastroesophageal reflux disease (Disease Ontology:DOID:8534); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:5320); (R-HSA-1482788); (R-HSA-1482801); (R-HSA-1482839); (R-HSA-1482922); (R-HSA-1482925); (R-HSA-1483166); (R-HSA-6803157)", "pathway_count": 8, "publication_count": 174, "publication_id_list": "10.1038/emboj.2013.79;10085124;10092647;10196188;10336645;10358058;10358193;10455175;10506173;10553003;10681567;11031251;11112443;11120840;11237011;11313366;11389039;11694541;11788596;11830583;11971875;12063250;12150957;12161451;12359733;12493837;12522102;12963729;13816;14506276;14573790;14709560;14739326;14998370;1522221;15229136;15367102;15485873;15695510;15778384;15826377;15863501;15944408;15956276;16054449;1618844;16215847;16243729;16336202;16354652;16354654;16374474;16460752;16495223;16617059;16620771;16704971;16799473;16818490;16864775;16931762;16940129;17028579;17101204;17170135;17182612;17363965;17502600;17567961;17707131;17964057;18021746;18094042;18160480;18185531;18195019;18238778;18287005;18458083;18614531;18635536;18673279;18718904;18772128;18781350;19019078;1904318;19095652;19179970;19254208;19336658;19351971;1948070;19501189;19554302;19666841;19818633;20025994;20103720;20180804;20382864;20395631;20510021;2062381;20705608;20845358;21173190;21220512;21515882;21787330;22262861;22327069;2239446;22455996;22605381;22701042;22777291;22825852;22906437;22922100;23164706;23176821;23176823;23302724;23426625;23584533;23807634;23934110;24219363;24256734;24966474;25075772;25082876;25398877;25461571;25596890;26148048;26206935;26463208;26503625;26711011;27089320;2775276;2925608;2925633;3202859;3240982;3286634;3458202;36385678;36982611;37087406;37673297;39449149;7060561;7664108;7821823;8083230;8163052;8186247;8300559;8399335;8530346;8687421;9188469;9212163;9417066;9461603;9523110;9538252;9582313;9665269;9705332;9756476", "class_list": "", "function": "High expression of PLA2G2A in fibroblasts plays a crucial role in the early progression of carotid atherosclerosis. Publication Status: Online-Only, [RefSeq, PubMed]; Identification and immunological characterization of PLA2G2A and cell death-associated molecular clusters in idiopathic pulmonary fibrosis., [RefSeq, PubMed]; Interplay between C1-inhibitor and group IIA secreted phospholipase A2 impairs their respective function., [RefSeq, PubMed]; Secretory Phospholipase A2 and Interleukin-6 Levels as Predictive Markers of the Severity and Outcome of Patients with COVID-19 Infections. Publication Status: Online-Only, [RefSeq, PubMed]; Secretory calcium-dependent phospholipase A2 that primarily targets extracellular phospholipids with implications in host antimicrobial defense, inflammatory response and tissue regeneration (PubMed:10455175, PubMed:10681567, PubMed:2925633). Hydrolyzes the ester bond of the fatty acyl group attached at sn-2 position of phospholipids (phospholipase A2 activity) with preference for phosphatidylethanolamines and phosphatidylglycerols over phosphatidylcholines (PubMed:10455175, PubMed:10681567). Contributes to lipid remodeling of cellular membranes and generation of lipid mediators involved in pathogen clearance. Displays bactericidal activity against Gram-positive bacteria by directly hydrolyzing phospholipids of the bacterial membrane (PubMed:10358193, PubMed:11694541). Upon sterile inflammation, targets membrane phospholipids of extracellular mitochondria released from activated platelets, generating free unsaturated fatty acids such as arachidonate that is used by neighboring leukocytes to synthesize inflammatory eicosanoids such as leukotrienes. Simultaneously, by compromising mitochondrial membrane integrity, promotes the release in circulation of potent damage-associated molecular pattern molecules that activate the innate immune response (PubMed:25082876). Plays a stem cell regulator role in the intestinal crypt. Within intracellular compartment mediates Paneth cell differentiation and its stem cell supporting functions by inhibiting Wnt signaling pathway in intestinal stem cell (ICS). Secreted in the intestinal lumen upon inflammation, acts in an autocrine way and promotes prostaglandin E2 synthesis that stimulates Wnt signaling pathway in ICS cells and tissue regeneration (By similarity). May play a role in the biosynthesis of N-acyl ethanolamines that regulate energy metabolism and inflammation. Hydrolyzes N-acyl phosphatidylethanolamines to N-acyl lysophosphatidylethanolamines, which are further cleaved by a lysophospholipase D to release N-acyl ethanolamines (PubMed:14998370). Independent of its catalytic activity, acts as a ligand for integrins (PubMed:18635536, PubMed:25398877). Binds to and activates integrins ITGAV:ITGB3, ITGA4:ITGB1 and ITGA5:ITGB1 (PubMed:18635536, PubMed:25398877). Binds to a site (site 2) which is distinct from the classical ligand-binding site (site 1) and induces integrin conformational changes and enhanced ligand binding to site 1 (PubMed:25398877). Induces cell proliferation in an integrin-dependent manner (PubMed:18635536)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the phospholipase A2 family (PLA2). PLA2s constitute a diverse family of enzymes with respect to sequence, function, localization, and divalent cation requirements. This gene product belongs to group II, which contains secreted form of PLA2, an extracellular enzyme that has a low molecular mass and requires calcium ions for catalysis. It catalyzes the hydrolysis of the sn-2 fatty acid acyl ester bond of phosphoglycerides, releasing free fatty acids and lysophospholipids, and thought to participate in the regulation of the phospholipid metabolism in biomembranes. Several alternatively spliced transcript variants with different 5' UTRs have been found for this gene.[provided by RefSeq, Sep 2009]., [RefSeq]; [Diagnostic value of lipoprotein-associated phospholipase A2 in OPBR combined with gallbladder cholesterol deposition]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 22, "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": "A8K5I7;Q6DN24;Q6IBD9;Q9UCD2", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "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": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" } ], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0005509 calcium ion binding;GO:0004623 phospholipase A2 activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005741 mitochondrial outer membrane;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "GO:0046473 phosphatidic acid metabolic process;GO:0006954 inflammatory response;GO:0050830 defense response to Gram-positive bacterium;GO:0070374 positive regulation of ERK1 and ERK2 cascade;GO:0016042 lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 17.7, "record_id": "P14555-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P15863-1", "uniprot_id": [ { "id": "PAX1_HUMAN", "url": "https://www.uniprot.org/uniprot/P15863", "type": "external" } ], "mass": 55499.0, "length": 534, "protein_name": "Paired box protein Pax-1", "gene_name": "PAX1", "organism": "Human", "refseq_name": "paired box protein Pax-1 isoform 1", "refseq_ac": [ { "id": "NP_006183", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006183", "type": "external" } ], "gene_names_uniprotkb": "PAX1; HUP48", "gene_names_refseq": "HUP48; OFC2; OTFCS2; PAX1", "protein_names_uniprotkb": "Paired box protein Pax-1; HuP48", "protein_names_refseq": "paired box gene 1; paired box protein Pax-1 isoform 1; paired box protein Pax-1; paired domain gene HuP48", "tax_id": 9606, "disease": "branchiootorenal syndrome (Disease Ontology:DOID:14702); otofaciocervical syndrome 2 (MONDO:MONDO:0014254)", "pathway": " (hsa:5075)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;23851939;2501086;28218747;29437277;29557506;31844290;33936100;33968037;35051231;37776957;38448375;38664733;39304838;8863157", "class_list": "", "function": "High-grade cervical lesions diagnosed by JAM3/PAX1 methylation in high-risk human papillomavirus-infected patients., [RefSeq, PubMed]; PAX1 expression in thymic epithelial neoplasms and morphologic mimics., [RefSeq, PubMed]; PAX1 represses canonical Wnt signaling pathway and plays dual roles during endoderm differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; Relationship between p16/ki67 immunoscores and PAX1/ZNF582 methylation status in precancerous and cancerous cervical lesions in high-risk HPV-positive women. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. This gene plays a role in pattern formation during embryogenesis and may be essential for development of the vertebral column. This gene is silenced by methylation in ovarian and cervical cancers and may be a tumor suppressor gene. Mutations in this gene are also associated with vertebral malformations. [provided by RefSeq, Mar 2012]., [RefSeq]; This protein is a transcriptional activator. It may play a role in the formation of segmented structures of the embryo. May play an important role in the normal development of the vertebral column (By similarity)., [UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4E0D6;Q642X9;Q6NTC0;Q9Y558", "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:1990837 sequence-specific double-stranded DNA binding;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0009792 embryo development ending in birth or egg hatching;GO:0006357 regulation of transcription by RNA polymerase II;GO:0001501 skeletal system development;GO:0006366 transcription by RNA polymerase II;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "P15863-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P39656-1", "uniprot_id": [ { "id": "OST48_HUMAN", "url": "https://www.uniprot.org/uniprot/P39656", "type": "external" } ], "mass": 50801.0, "length": 456, "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit", "gene_name": "DDOST", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "DDOST; KIAA0115; OST48; SW-cl.45", "gene_names_refseq": "", "protein_names_uniprotkb": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit; DDOST 48 kDa subunit; Oligosaccharyl transferase 48 kDa subunit", "protein_names_refseq": "", "tax_id": 9606, "disease": "congenital disorder of glycosylation Ir (Disease Ontology:DOID:0080569)", "pathway": " (hsa:1650); (R-HSA-1799339); (R-HSA-446203); (R-HSA-6798695); (R-HSA-879415); (R-HSA-9694548); (R-HSA-9768727); (R-HSA-9918432); (R-HSA-9931295)", "pathway_count": 9, "publication_count": 181, "publication_id_list": "10228156;10531386;11237011;11470266;11964406;12089159;12171918;12470955;12678917;12853463;12893276;12935895;14514716;14688233;16317064;16469117;1651976;17261850;18166647;18455985;18491227;18991276;19835842;20068231;20444697;20798515;22305527;22375065;22467853;22645359;22915798;23481700;23606741;23650620;24112972;24681004;24714562;24715725;24966173;25135935;25418920;25502872;25576301;25645385;25880248;25892735;26024233;26154972;26208004;26375851;26416966;26728094;26758079;26768311;26811146;26929215;26992070;27255086;27383988;27397612;27452731;27572267;27600516;27846572;27893789;27920218;28063628;28218747;28228285;28228593;2834401;28467828;28512129;28514659;28832583;28834231;28855257;28904123;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29765039;29765154;29769354;29786170;30001391;30118680;30315122;30410026;30779550;31092671;31154438;31217245;31222486;31305264;31530632;31611695;31831667;31844290;31848261;31937595;31998317;32157095;32161166;32350084;32357974;32363391;32366695;32387766;32488085;32502341;32518941;32676595;32897882;32938616;32983136;33043033;33141586;33214551;33298915;33310888;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34117209;34171305;34185709;34211107;34357683;34428449;34462534;34509645;34528721;34561969;34599882;34725712;34932366;34961524;35051231;35154160;35215835;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;36697828;36719382;37217939;37938771;38665916;38670073;38793607;40914422;6156677;7072193;7982500;7986008;8529130;8692836;9367678;9631292", "class_list": "glycogene", "function": "Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:31831667). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (By similarity). Required for the assembly of both SST3A- and SS3B-containing OST complexes (PubMed:22467853)., [UniProtKB, UniProtKB, PubMed, PubMed, 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 528, "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": "B2RDQ4;B4DJE3;B4DLI2;O43244;Q5VWA5;Q8NI93;Q9BUI2", "ec_number_list": [], "go_molecular_function": "GO:0008047 enzyme activator activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043231 intracellular membrane-bounded organelle;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0009101 glycoprotein biosynthetic process;GO:0042110 T cell activation;GO:0031647 regulation of protein stability;GO:0034097 response to cytokine;GO:0006487 protein N-linked glycosylation", "synthesized_glycan_count": 0, "hit_score": 18.4, "record_id": "P39656-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51582-1", "uniprot_id": [ { "id": "P2RY4_HUMAN", "url": "https://www.uniprot.org/uniprot/P51582", "type": "external" } ], "mass": 40963.0, "length": 365, "protein_name": "P2Y purinoceptor 4", "gene_name": "P2RY4", "organism": "Human", "refseq_name": "P2Y purinoceptor 4", "refseq_ac": [ { "id": "NP_002556", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002556", "type": "external" } ], "gene_names_uniprotkb": "P2RY4; NRU", "gene_names_refseq": "NRU; P2P; P2RY4; P2Y4; UNR", "protein_names_uniprotkb": "P2Y purinoceptor 4; P2P; P2Y4; UNR; Uridine nucleotide receptor", "protein_names_refseq": "P2Y purinoceptor 4; pyrimidinergic receptor P2Y, G-protein coupled, 4; uridine nucleotide receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:5030); (R-HSA-417957); (R-HSA-418594)", "pathway_count": 3, "publication_count": 54, "publication_id_list": "10753868;11004484;11007482;11114308;11156592;11196645;11546776;12120503;12386137;12458155;15199474;15951850;16268477;16634148;16774927;16923326;16990797;17166850;18297070;18434541;18466763;18577758;19339661;19552634;21219331;22052557;22776902;23890048;24393016;24414167;25003238;2534964;25892735;26194851;26758983;2748346;27694321;28089137;2834384;3304967;35051231;7937899;8015379;8159738;8406495;8537335;8537336;8617367;8666290;8670200;8720746;9223435;9364473;9405388", "class_list": "", "function": "Nucleotide P2Y4 receptor binding is arrested in post-Golgi trafficking by type I transmembrane proteins p23 and p24A., [RefSeq, PubMed]; P2Y4 receptors are expressed in intracellular vesicles and sarcolemma of skeletal muscle fibers., [RefSeq, PubMed]; Receptor for UTP and UDP coupled to G proteins that activate a phosphatidylinositol-calcium second messenger system. Not activated by ATP or ADP., [UniProtKB]; Reflected in the immunoblotting data P2RY4 receptors were detected at higher levels of expression in patient with cortical dysplasia with intractable epilepsy., [RefSeq, PubMed]; Show that P2 receptors and protein kinases are also involved in regulating injury-induced expression and the release of TSP-1 in injured astrocytes, [RefSeq, PubMed]; The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is responsive to uridine nucleotides, partially responsive to ATP, and not responsive to ADP. [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": 8, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q4VBB7;Q4VBB8;Q502W2;Q5JT22", "ec_number_list": [], "go_molecular_function": "GO:0045030 G protein-coupled UTP receptor activity;GO:0045028 G protein-coupled purinergic nucleotide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway;GO:0030321 transepithelial chloride transport;GO:0071318 cellular response to ATP", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "P51582-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02509-1", "uniprot_id": [ { "id": "OC90_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02509", "type": "external" } ], "mass": 51728.0, "length": 477, "protein_name": "Otoconin-90", "gene_name": "OC90", "organism": "Human", "refseq_name": "otoconin-90 precursor", "refseq_ac": [ { "id": "NP_001073868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073868", "type": "external" } ], "gene_names_uniprotkb": "OC90; PLA2L", "gene_names_refseq": "OC90; PLA2L", "protein_names_uniprotkb": "Otoconin-90; Oc90; Phospholipase A2 homolog", "protein_names_refseq": "otoconin-90 precursor; phospholipase A2 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:729330)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "24748133;31154438;32157095;32387766;32938616;34087483;34509645;39456211;8382789", "class_list": "", "function": "Calcium carbonate crystal growth data demonstrate that Otolin-1 and OC90 modulate in vitro calcite crystal morphology but neither protein is sufficient to produce the shape of otoconia Publication Status: Online-Only, [RefSeq, PubMed]; Major protein of the otoconia, a calcium carbonate structure in the saccule and utricle of the ear. Together with OTOL1, acts as a scaffold for otoconia biomineralization: sequesters calcium and forms interconnecting fibrils between otoconia that are incorporated into the calcium crystal structure. Together with OTOL1, modulates calcite crystal morphology and growth kinetics. It is unlikely that this protein has phospholipase A2 activity., [UniProtKB, UniProtKB]; Serum Otoconin-90 and Otolin-1 Concentrations in Benign Paroxysmal Positional Vertigo. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DNG8", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0005198 structural molecule activity;GO:0005509 calcium ion binding;GO:0004623 phospholipase A2 activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0031012 extracellular matrix", "go_biological_process": "GO:0016042 lipid catabolic process;GO:0050482 arachidonate secretion;GO:0046470 phosphatidylcholine metabolic process;GO:0046471 phosphatidylglycerol metabolic process;GO:0045299 otolith mineralization", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q02509-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13093-1", "uniprot_id": [ { "id": "PAFA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13093", "type": "external" } ], "mass": 50077.0, "length": 441, "protein_name": "Platelet-activating factor acetylhydrolase", "gene_name": "PLA2G7", "organism": "Human", "refseq_name": "platelet-activating factor acetylhydrolase precursor", "refseq_ac": [ { "id": "NP_001161829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161829", "type": "external" } ], "gene_names_uniprotkb": "PLA2G7; PAFAH", "gene_names_refseq": "LDL-PLA2; LP-PLA2; PAFAD; PAFAH; PLA2G7", "protein_names_uniprotkb": "Platelet-activating factor acetylhydrolase; 1-alkyl-2-acetylglycerophosphocholine esterase; 2-acetyl-1-alkylglycerophosphocholine esterase; 3.1.1.47; Group-VIIA phospholipase A2; LDL-PLA(2); LDL-associated phospholipase A2; PAF 2-acylhydrolase; PAF acetylhydrolase; gVIIA-PLA2", "protein_names_refseq": "1-alkyl-2-acetylglycerophosphocholine esterase; 2-acetyl-1-alkylglycerophosphocholine esterase; LDL-PLA(2); LDL-associated phospholipase A2; PAF 2-acylhydrolase; PAF acetylhydrolase; gVIIA-PLA2; group-VIIA phospholipase A2; lipoprotein-associated phospholipase A2; phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma); platelet-activating factor acetylhydrolase precursor", "tax_id": 9606, "disease": "obstructive sleep apnea (Disease Ontology:DOID:0050848); glomerulosclerosis (Disease Ontology:DOID:0050851); stroke (Disease Ontology:DOID:0051061); metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); nephrotic syndrome type 2 (Disease Ontology:DOID:0080379); nephrotic syndrome (Disease Ontology:DOID:1184); hemolytic-uremic syndrome (Disease Ontology:DOID:12554); carotid stenosis (Disease Ontology:DOID:13001); dementia (Disease Ontology:DOID:1307); atherosclerosis (Disease Ontology:DOID:1936); multiple sclerosis (Disease Ontology:DOID:2377); asthma (Disease Ontology:DOID:2841); glomerulonephritis (Disease Ontology:DOID:2921); IgA glomerulonephritis (Disease Ontology:DOID:2986); coronary artery disease (Disease Ontology:DOID:3393); carotid artery disease (Disease Ontology:DOID:3407); cerebral infarction (Disease Ontology:DOID:3526); proteinuria (Disease Ontology:DOID:576); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); rheumatoid arthritis (Disease Ontology:DOID:7148); abdominal aortic aneurysm (Disease Ontology:DOID:7693); end stage renal disease (Disease Ontology:DOID:783); type 2 diabetes mellitus (Disease Ontology:DOID:9352); platelet-activating factor acetylhydrolase deficiency (MONDO:MONDO:0013663)", "pathway": " (hsa:7941); (R-HSA-422085)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10066756;10504265;10604470;10733466;11089560;11590221;11600536;11756331;12050285;12354137;12414809;12553549;12821559;14599721;15126574;15142980;15256494;15604212;16371369;17090529;17289852;17595255;18396350;18434304;18443287;18784071;19280057;19327128;19394314;19628676;2040620;25502872;27862975;29242379;29557506;29786170;32157095;32350084;32983136;33043033;33936100;33968037;34357683;34433824;35051231;35154160;35580925;38113871;38216940;38287833;38677367;38924255;39894887;7592717;7700381;8624782;8675689;9245731;9412624;9472966;9759612", "class_list": "", "function": "Association of 25-hydroxyvitamin D, lipoprotein-associated phospholipase A2 and asymptomatic coronary artery disease in patients with type 2 diabetes mellitus., [RefSeq, PubMed]; Bioinformatics Analysis Identifies PLA2G7 as a Key Antigen-Presenting Prognostic Related Gene Promoting Hepatocellular Carcinoma through the STAT1/PD-L1 Axis., [RefSeq, PubMed]; Causal Effect of Lipoprotein-Associated Phospholipase A2 Activity on Ischemic Stroke: A Mendelian Randomization Study., [RefSeq, PubMed]; Lipoprotein-associated calcium-independent phospholipase A2 involved in phospholipid catabolism during inflammatory and oxidative stress response (PubMed:10066756, PubMed:16371369, PubMed:17090529, PubMed:2040620, PubMed:7700381, PubMed:8624782). At the lipid-aqueous interface, hydrolyzes the ester bond of fatty acyl group attached at sn-2 position of phospholipids (phospholipase A2 activity) (PubMed:10504265, PubMed:2040620). Specifically targets phospholipids with a short-chain fatty acyl group at sn-2 position (PubMed:2040620). Can hydrolyze phospholipids with long fatty acyl chains, only if they carry oxidized functional groups (PubMed:2040620, PubMed:8624782). Hydrolyzes and inactivates platelet-activating factor (PAF, 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine), a potent pro-inflammatory signaling lipid that acts through PTAFR on various innate immune cells (PubMed:10066756, PubMed:10504265, PubMed:11590221, PubMed:16371369, PubMed:18434304, PubMed:7592717, PubMed:7700381, PubMed:8624782, PubMed:8675689). Hydrolyzes oxidatively truncated phospholipids carrying an aldehyde group at omega position, preventing their accumulation in low-density lipoprotein (LDL) particles and uncontrolled pro-inflammatory effects (PubMed:2040620, PubMed:7700381). As part of high-density lipoprotein (HDL) particles, can hydrolyze phospholipids having long-chain fatty acyl hydroperoxides at sn-2 position and protect against potential accumulation of these oxylipins in the vascular wall (PubMed:17090529). Catalyzes the release from membrane phospholipids of F2-isoprostanes, lipid biomarkers of cellular oxidative damage (PubMed:16371369)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Lipoprotein-associated phospholipase A2 predicts cardiovascular death in patients on maintenance hemodialysis: a 7-year prospective cohort study. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a secreted enzyme that catalyzes the degradation of platelet-activating factor to biologically inactive products. Defects in this gene are a cause of platelet-activating factor acetylhydrolase deficiency. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2009]., [RefSeq]; The relationships between biological novel biomarkers Lp-PLA2 and CTRP-3 and CVD in patients with type 2 diabetes mellitus., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 20, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 25, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A5HTT5;Q15692;Q5VTT1;Q8IVA2", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "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.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.1", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "2.3.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.149", "type": "external" } ], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0016788 hydrolase activity, acting on ester bonds;GO:0004623 phospholipase A2 activity;GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0034364 high-density lipoprotein particle;GO:0034362 low-density lipoprotein particle", "go_biological_process": "GO:0034638 phosphatidylcholine catabolic process;GO:0034440 lipid oxidation;GO:0034441 plasma lipoprotein particle oxidation;GO:0016486 peptide hormone processing;GO:0090026 positive regulation of monocyte chemotaxis", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q13093-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IF99-1", "uniprot_id": [ { "id": "O10K2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IF99", "type": "external" } ], "mass": 35029.0, "length": 312, "protein_name": "Olfactory receptor 10K2", "gene_name": "OR10K2", "organism": "Human", "refseq_name": "olfactory receptor 10K2", "refseq_ac": [ { "id": "NP_001004476", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004476", "type": "external" } ], "gene_names_uniprotkb": "OR10K2", "gene_names_refseq": "OR1-4; OR10K2", "protein_names_uniprotkb": "Olfactory receptor 10K2; Olfactory receptor OR1-4", "protein_names_refseq": "olfactory receptor 10K2; olfactory receptor OR1-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:391107); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 10, "publication_id_list": "14983052;24800820;27515280;28228285;29242379;31844290;31974307;32066986;32983136;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q6IF99-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6TCH7-1", "uniprot_id": [ { "id": "PAQR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6TCH7", "type": "external" } ], "mass": 36217.0, "length": 311, "protein_name": "Progestin and adipoQ receptor family member 3", "gene_name": "PAQR3", "organism": "Human", "refseq_name": "progestin and adipoQ receptor family member 3 isoform 1", "refseq_ac": [ { "id": "NP_001035292", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035292", "type": "external" } ], "gene_names_uniprotkb": "PAQR3", "gene_names_refseq": "PAQR3; RKTG", "protein_names_uniprotkb": "Progestin and adipoQ receptor family member 3; Progestin and adipoQ receptor family member III; RKTG; Raf kinase trapping to Golgi", "protein_names_refseq": "Raf kinase trapping to Golgi; progestin and adipoQ receptor family member 3 isoform 1; progestin and adipoQ receptor family member III", "tax_id": 9606, "disease": "", "pathway": " (hsa:152559); (R-HSA-5675221)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10206983;10415025;10490027;10702794;10757792;11237011;12583813;14724641;15664191;15851477;16044242;16892053;17097642;17724343;18294816;18332145;18515281;18547165;19091743;19158341;20332238;21779496;22730326;23105109;25314968;25597358;26311497;26992070;28228285;28834231;31844290;32016977;32488085;33955706;34588429;35051231;35870178;36241641;38321173", "class_list": "", "function": "Circular RNA hsa_circ_0043280 inhibits cervical cancer tumor growth and metastasis via miR-203a-3p/PAQR3 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Golgi scaffold protein PAQR3 as a candidate suppressor of gastric cardia adenocarcinoma via regulating TGF-beta/Smad pathway., [RefSeq, PubMed]; Golgi-scaffold protein which modulates its interactors acitivies by anchoring them to the Golgi apparatus (PubMed:18547165, PubMed:26311497). Functions as a spatial regulator of RAF1 kinase by sequestrating it to the Golgi apparatus (PubMed:18547165). Acts as a positive regulator of cholesterol biosynthesis by mediating the anchoring of the SCAP:SREBP complex in the Golgi apparatus, thereby promoting SCAP:SREBF2 complex formation, potentiating SREBF2 and SREBF1 processing and enhancing lipid synthesis (PubMed:26311497). Also regulates PPARA and PPARG functions by mediating their interaction with E3 ubiquitin ligases, such as STUB1 or HUWE1, leading to their polyubiquitination and proteasome-mediated degradation (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; MiR-15b facilitates breast cancer progression via repressing tumor suppressor PAQR3., [RefSeq, PubMed]; PAQR3 inhibits proliferation and aggravates ferroptosis in acute lymphoblastic leukemia through modulation Nrf2 stability., [RefSeq, PubMed]; Reveal a paradigm of spatial regulation of Raf kinase by RKTG via sequestrating Raf-1 to the Golgi apparatus and thereby inhibiting the ERK signaling pathway., [RefSeq, PubMed]; Systematic pan-cancer analyses of the potential function of the Golgi scaffold protein PAQR3. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a seven-transmembrane protein localized in the Golgi apparatus in mammalian cells. The encoded protein belongs to the progestin and adipoQ receptor (PAQR) family. This protein functions as a tumor suppressor by inhibiting the Raf/MEK/ERK signaling cascade. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A8K5B7;B3KP59;Q6PIQ1;Q86X05;Q8NCP9", "ec_number_list": [], "go_molecular_function": "GO:0043495 protein-membrane adaptor activity;GO:1990756 ubiquitin-like ligase-substrate adaptor activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0001933 negative regulation of protein phosphorylation;GO:0010977 negative regulation of neuron projection development;GO:0045542 positive regulation of cholesterol biosynthetic process;GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:0043407 negative regulation of MAP kinase activity", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q6TCH7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXH9-1", "uniprot_id": [ { "id": "PAMR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXH9", "type": "external" } ], "mass": 80199.0, "length": 720, "protein_name": "Inactive serine protease PAMR1", "gene_name": "PAMR1", "organism": "Human", "refseq_name": "inactive serine protease PAMR1 isoform b precursor", "refseq_ac": [ { "id": "NP_001001991", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001991", "type": "external" } ], "gene_names_uniprotkb": "PAMR1; FP938; PRO1344; RAMP", "gene_names_refseq": "DKFZP586H2123; FP938; PAMR1; RAMP", "protein_names_uniprotkb": "Inactive serine protease PAMR1; Peptidase domain-containing protein associated with muscle regeneration 1; Regeneration-associated muscle protease homolog", "protein_names_refseq": "inactive serine protease PAMR1 isoform b precursor; inactive serine protease PAMR1; peptidase domain-containing protein associated with muscle regeneration 1; regeneration associated muscle protease; regeneration-associated muscle protease homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:25891)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12975309;15111323;15498874;16335952;23481700;25370079;28411811;28657654;28855257;29557506;30524438;31844290;33981976;35051231;36241641;37074911;38253038;38665916", "class_list": "", "function": "May play a role in regeneration of skeletal muscle., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; PAMR1 is a putative tumor suppressor which is frequently inactivated by promoter hypermethylation in breast cancer tissues., [RefSeq, PubMed]; RAMP may play a role in the regeneration of skeletal muscle, and its down-regulation could be involved in the progression of Duchenne muscular dystrophy, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 4, "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": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 13, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "A8MQ58;B7ZA73;Q5EBL7;Q5JPI4;Q6N062;Q71RE9;Q96JW2;Q9Y432", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q6UXH9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IV76-1", "uniprot_id": [ { "id": "PASD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IV76", "type": "external" } ], "mass": 87428.0, "length": 773, "protein_name": "Circadian clock protein PASD1", "gene_name": "PASD1", "organism": "Human", "refseq_name": "circadian clock protein PASD1", "refseq_ac": [ { "id": "NP_775764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775764", "type": "external" } ], "gene_names_uniprotkb": "PASD1", "gene_names_refseq": "CT63; CT64; OXTES1; PASD1", "protein_names_uniprotkb": "Circadian clock protein PASD1; CT63; Cancer/testis antigen 63; OX-TES-1; PAS domain-containing protein 1", "protein_names_refseq": "PAS domain containing 1; cancer/testis antigen 63; circadian clock protein PASD1", "tax_id": 9606, "disease": "", "pathway": " (hsa:139135)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "15162151;16112646;20861911;20934997;25645385;25936801;26492414;26892021;27600516;29557506;31217245;31478431;31558691;32938616;34087483;35051231;35494241;37938771", "class_list": "", "function": "Findings suggested that PASD1 expression in glioma patients was extremely upregulated compared with that in normal tissue samples and cell lines. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a suppressor of the biological clock that drives the daily circadian rhythms of cells throughout the body (PubMed:25936801). Acts as a nuclear repressor of the CLOCK-BMAL1 heterodimer-mediated transcriptional activation of the core clock components (PubMed:25936801). Inhibits circadian clock function in cancer cells, when overexpressed (PubMed:25936801)., [UniProtKB, PubMed]; Gene and protein expressions of PASD1 were detected in 20% and 17.3% of colorectal cancer samples, respectively. PASD1(4) peptide was shown to be immunogenic in colorectal cancer samples., [RefSeq, PubMed]; PASD1 is a circadian bHLH-PAS paralog repressor of CLOCK protein expression., [RefSeq, PubMed]; PASD1 serves as a critical nuclear positive regulator of STAT3-mediated gene expression and tumorigenesis., [RefSeq, PubMed]; PASD1-derived epitopes are both efficiently and selectively processed and presented by native human multiple myeloma cells as cancer vaccines., [RefSeq, PubMed]; This gene encodes a protein that is thought to function as a transcription factor. The protein is a cancer-associated antigen that can stimulate autologous T-cell responses, and it is therefore considered to be a potential immunotherapeutic target for the treatment of various hematopoietic malignancies, including diffuse large B-cell lymphoma. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q3MNE0;Q69HD7;Q8N7X9", "ec_number_list": [], "go_molecular_function": "GO:0140416 transcription regulator inhibitor activity;GO:0140297 DNA-binding transcription factor binding", "go_cellular_component": "GO:1990513 CLOCK-BMAL transcription complex;GO:1990512 Cry-Per complex;GO:0005634 nucleus;GO:0016607 nuclear speck", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:0032922 circadian regulation of gene expression;GO:0042754 negative regulation of circadian rhythm", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q8IV76-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXM7-1", "uniprot_id": [ { "id": "CMA1C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXM7", "type": "external" } ], "mass": 31065.0, "length": 274, "protein_name": "Ciliary microtubule associated protein 1C", "gene_name": "CIMAP1C", "organism": "Human", "refseq_name": "ciliary microtubule associated protein 1C", "refseq_ac": [ { "id": "NP_787077", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_787077", "type": "external" } ], "gene_names_uniprotkb": "CIMAP1C; ODF3L1", "gene_names_refseq": "CIMAP1C; ODF3L1", "protein_names_uniprotkb": "Ciliary microtubule associated protein 1C; Outer dense fiber protein 3-like protein 1; Protein CIMAP1C", "protein_names_refseq": "ciliary microtubule associated protein 1C; outer dense fiber of sperm tails 3 like 1; outer dense fiber protein 3-like protein 1; protein CIMAP1C", "tax_id": 9606, "disease": "", "pathway": " (hsa:161753)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "31844290;37217939;39894887", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005856 cytoskeleton", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8IXM7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IY49-1", "uniprot_id": [ { "id": "PAQRA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IY49", "type": "external" } ], "mass": 31264.0, "length": 270, "protein_name": "Monocyte to macrophage differentiation factor 2", "gene_name": "MMD2", "organism": "Human", "refseq_name": "monocyte to macrophage differentiation factor 2 isoform 1", "refseq_ac": [ { "id": "NP_001094070", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094070", "type": "external" } ], "gene_names_uniprotkb": "MMD2; PAQR10", "gene_names_refseq": "MMD2; PAQR10", "protein_names_uniprotkb": "Monocyte to macrophage differentiation factor 2; Progestin and adipoQ receptor family member 10; Progestin and adipoQ receptor family member X", "protein_names_refseq": "monocyte to macrophage differentiation factor 2 isoform 1; monocyte to macrophage differentiation factor 2; monocyte-to-macrophage differentiation-associated protein 2; progestin and adipoQ receptor family member 10; progestin and adipoQ receptor family member X", "tax_id": 9606, "disease": "", "pathway": " (hsa:221938)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "16044242;20570966;21968647;22339580;24715725;30315122;31154438;36215666", "class_list": "", "function": "Collectively, this study uncovers a new paradigm of spatial regulation of Ras signaling in the Golgi apparatus by PAQR10 and PAQR11., [RefSeq, PubMed]; Genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Results of the present study indicate that Golgi localization is indispensable for PAQR10 to implement its regulatory functions in the Ras signalling cascade, [RefSeq, PubMed]; This gene encodes a member of the PAQR (progestin and adipoQ receptor) family. Members of this family are evolutionarily conserved with significant sequence identity to bacterial hemolysin-like proteins and are defined by a set of seven transmembrane domains. The protein encoded by this gene localizes to the Golgi apparatus to modulate Ras signaling. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B5MBW4;Q6NVU5;Q6TCH0", "ec_number_list": [], "go_molecular_function": "GO:0004672 protein kinase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0046579 positive regulation of Ras protein signal transduction;GO:0045666 positive regulation of neuron differentiation;GO:0045860 positive regulation of protein kinase activity;GO:0032880 regulation of protein localization", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8IY49-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5Y8-1", "uniprot_id": [ { "id": "PAR16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5Y8", "type": "external" } ], "mass": 36383.0, "length": 322, "protein_name": "Protein mono-ADP-ribosyltransferase PARP16", "gene_name": "PARP16", "organism": "Human", "refseq_name": "protein mono-ADP-ribosyltransferase PARP16 isoform 2", "refseq_ac": [ { "id": "NP_001303872", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303872", "type": "external" } ], "gene_names_uniprotkb": "PARP16; ARTD15; C15orf30", "gene_names_refseq": "ARTD15; C15orf30; PARP16; pART15", "protein_names_uniprotkb": "Protein mono-ADP-ribosyltransferase PARP16; 2.4.2.-; ADP-ribosyltransferase diphtheria toxin-like 15; PARP-16; Poly [ADP-ribose] polymerase 16", "protein_names_refseq": "ADP-ribosyltransferase diphtheria toxin-like 15; PARP-16; mono [ADP-ribose] polymerase PARP16; poly [ADP-ribose] polymerase 16; protein mono-ADP-ribosyltransferase PARP16 isoform 2; protein mono-ADP-ribosyltransferase PARP16", "tax_id": 9606, "disease": "", "pathway": " (hsa:54956); (R-HSA-196807); (R-HSA-9683610); (R-HSA-9694631)", "pathway_count": 4, "publication_count": 120, "publication_id_list": "10331643;10613898;11237011;11248244;11594753;11788603;11866528;11991719;12359228;12547821;12574164;12790796;13563527;14516279;14966140;15090606;15137942;15381699;15674325;15848177;16103198;16118205;1637327;16690024;17402747;17604275;17641676;17868694;17914902;18411268;19106108;19531469;20106667;20388704;2129526;21504897;21699903;21933152;21994945;22661712;22701565;22822066;23103912;23212377;23230272;23481700;24366607;24717514;24847004;25043379;25531177;25576301;26154972;26598975;26992070;27846572;27920218;28218747;28514659;28649982;28832583;28834231;28904123;29199039;29242379;29437277;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30524438;30779550;30833945;31222486;31530632;31844290;31998317;32029454;32157095;32357974;32472322;32502341;32637943;32645325;32723359;32817937;32877642;32897882;32906142;32938616;32983136;33087354;33248025;33592498;33691108;33717175;33912179;33968037;33997890;34029587;34171305;34314702;34593624;35051231;35494241;35580925;36010968;36284347;37217939;37219631;4349867;8182091;8289818;8527488;8575745;8809081;9473669", "class_list": "", "function": "Intracellular mono-ADP-ribosyltransferase that plays a role in different processes, such as protein translation and unfolded protein response (UPR), through the mono-ADP-ribosylation of proteins involved in those processes (PubMed:22701565, PubMed:23103912, PubMed:25043379, PubMed:34314702). Acts as an inhibitor of protein translation by catalyzing mono-ADP-ribosylation of ribosomal subunits, such as RPL14 and RPS6, thereby inhibiting polysome assembly and mRNA loading (PubMed:34314702). Mono-ADP-ribosylation of ribosomal subunits is promoted by NMNAT2 (PubMed:34314702). Involved in the unfolded protein response (UPR) by ADP-ribosylating and activating EIF2AK3 and ERN1, two important UPR effectors (PubMed:23103912). May also mediate mono-ADP-ribosylation of karyopherin KPNB1 a nuclear import factor (PubMed:22701565). May not modify proteins on arginine or cysteine residues compared to other mono-ADP-ribosyltransferases (PubMed:22701565)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; PARP16 is a tail-anchored endoplasmic reticulum protein required for the PERK- and IRE1alpha-mediated unfolded protein response. Erratum:[Nat Cell Biol. 2013 Jan;15(1):123], [RefSeq, PubMed]; Poly (ADP-ribose) polymerases 16 triggers pathological cardiac hypertrophy via activating IRE1alpha-sXBP1-GATA4 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Regulation of poly ADP-ribosylation of VEGF by an interplay between PARP-16 and TNKS-2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A0A024R5Y7;Q6PK64;Q9NX03", "ec_number_list": [ { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.286", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.286", "type": "external" } ], "go_molecular_function": "GO:1990404 NAD+-protein mono-ADP-ribosyltransferase activity;GO:0019900 kinase binding;GO:0043539 protein serine/threonine kinase activator activity;GO:0016779 nucleotidyltransferase activity;GO:0003950 NAD+ poly-ADP-ribosyltransferase activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0019082 viral protein processing;GO:0070213 protein auto-ADP-ribosylation;GO:0036498 IRE1-mediated unfolded protein response;GO:0030968 endoplasmic reticulum unfolded protein response;GO:2000766 negative regulation of cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "Q8N5Y8-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NG76-1", "uniprot_id": [ { "id": "O2T33_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NG76", "type": "external" } ], "mass": 35876.0, "length": 320, "protein_name": "Olfactory receptor 2T33", "gene_name": "OR2T33", "organism": "Human", "refseq_name": "olfactory receptor 2T33", "refseq_ac": [ { "id": "NP_001004695", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004695", "type": "external" } ], "gene_names_uniprotkb": "OR2T33", "gene_names_refseq": "OR1-56; OR2T32; OR2T33", "protein_names_uniprotkb": "Olfactory receptor 2T33; Olfactory receptor OR1-56", "protein_names_refseq": "novel 7 transmembrane receptor (rhodopsin family) protein; olfactory receptor 2T33; olfactory receptor OR1-56", "tax_id": 9606, "disease": "", "pathway": " (hsa:391195); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 22, "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": "B2RNN0", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NG76-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NG92-1", "uniprot_id": [ { "id": "O13H1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NG92", "type": "external" } ], "mass": 34570.0, "length": 308, "protein_name": "Olfactory receptor 13H1", "gene_name": "OR13H1", "organism": "Human", "refseq_name": "olfactory receptor 13H1", "refseq_ac": [ { "id": "NP_001004486", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004486", "type": "external" } ], "gene_names_uniprotkb": "OR13H1", "gene_names_refseq": "OR13H1; ORX1", "protein_names_uniprotkb": "Olfactory receptor 13H1; Olfactory receptor ORX-1", "protein_names_refseq": "olfactory receptor 13H1; olfactory receptor ORX-1; olfactory receptor ORX1", "tax_id": 9606, "disease": "", "pathway": " (hsa:347468); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;31154438;31974307;32066986;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": "B2RNQ3;Q6IET8;Q96R12", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8NG92-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGA5-1", "uniprot_id": [ { "id": "O10H4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGA5", "type": "external" } ], "mass": 35765.0, "length": 316, "protein_name": "Olfactory receptor 10H4", "gene_name": "OR10H4", "organism": "Human", "refseq_name": "olfactory receptor 10H4", "refseq_ac": [ { "id": "NP_001004465", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004465", "type": "external" } ], "gene_names_uniprotkb": "OR10H4", "gene_names_refseq": "OR10H4; OR19-28", "protein_names_uniprotkb": "Olfactory receptor 10H4; Olfactory receptor OR19-28", "protein_names_refseq": "olfactory receptor 10H4; olfactory receptor OR19-28", "tax_id": 9606, "disease": "", "pathway": " (hsa:126541); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB, UniProtKB, UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 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": "Q6IFJ2;Q96R57", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGA5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGH6-1", "uniprot_id": [ { "id": "O52L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGH6", "type": "external" } ], "mass": 35227.0, "length": 319, "protein_name": "Putative olfactory receptor 52L2", "gene_name": "OR52L2P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OR52L2P; 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OR52N2", "protein_names_uniprotkb": "Olfactory receptor 52N2; Olfactory receptor OR11-57", "protein_names_refseq": "olfactory receptor 52N2; olfactory receptor OR11-57", "tax_id": 9606, "disease": "", "pathway": " (hsa:390077); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 9, "publication_id_list": "14983052;24715725;24800820;27515280;31974307;32066986;35051231;36215666;39302247", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EIL8;Q6IFF9", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8NGI0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGJ7-1", "uniprot_id": [ { "id": "O51A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGJ7", "type": "external" } ], "mass": 35078.0, "length": 313, "protein_name": "Olfactory receptor 51A2", "gene_name": "OR51A2", "organism": "Human", "refseq_name": "olfactory receptor 51A2", "refseq_ac": [ { "id": "NP_001004748", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004748", "type": "external" } ], "gene_names_uniprotkb": "OR51A2", "gene_names_refseq": "OR51A2", "protein_names_uniprotkb": "Olfactory receptor 51A2", "protein_names_refseq": "olfactory receptor 51A2", "tax_id": 9606, "disease": "", "pathway": " (hsa:401667); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 4, "publication_id_list": "24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8NGJ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGJ8-1", "uniprot_id": [ { "id": "O51S1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGJ8", "type": "external" } ], "mass": 35313.0, "length": 323, "protein_name": "Olfactory receptor 51S1", "gene_name": "OR51S1", "organism": "Human", "refseq_name": "olfactory receptor 51S1", "refseq_ac": [ { "id": "NP_001004758", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004758", "type": "external" } ], "gene_names_uniprotkb": "OR51S1", "gene_names_refseq": "OR11-24; OR51S1", "protein_names_uniprotkb": "Olfactory receptor 51S1; Olfactory receptor OR11-24", "protein_names_refseq": "olfactory receptor 51S1; olfactory receptor OR11-24", "tax_id": 9606, "disease": "", "pathway": " (hsa:119692); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "14983052;24800820;27515280;31154438;31974307;32066986;38253038", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 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": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B9EGW8;Q6IFH6", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NGK1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NGK2-1", "uniprot_id": [ { "id": "O52B4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NGK2", "type": "external" } ], "mass": 35584.0, "length": 314, "protein_name": "Olfactory receptor 52B4", "gene_name": "OR52B4", "organism": "Human", "refseq_name": "olfactory receptor 52B4", "refseq_ac": [ { "id": "NP_001005161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005161", "type": "external" } ], "gene_names_uniprotkb": "OR52B4", "gene_names_refseq": "OR11-3; OR52B4", "protein_names_uniprotkb": "Olfactory receptor 52B4; Olfactory receptor OR11-3", "protein_names_refseq": "olfactory receptor 52B4; olfactory receptor OR11-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:143496)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "12730696;14983052;20677014;27869121;27892514;32387766;34087483", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]., [RefSeq]; The association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration. OR52B4 single nucleotide polynorphism rs4910623 allele frequency in age-related macular degeneration patients. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8NH04-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH07-1", "uniprot_id": [ { "id": "O11H2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH07", "type": "external" } ], "mass": 36531.0, "length": 326, "protein_name": "Olfactory receptor 11H2", "gene_name": "OR11H2", "organism": "Human", "refseq_name": "olfactory receptor 11H2", "refseq_ac": [ { "id": "NP_001184216", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184216", "type": "external" } ], "gene_names_uniprotkb": "OR11H2; C14orf15; OR11H2P", "gene_names_refseq": "C14orf15; OR11H13; OR11H2P; OR11H2; OR11H8P", "protein_names_uniprotkb": "Olfactory receptor 11H2; Olfactory receptor OR14-1", "protein_names_refseq": "olfactory receptor 11H2; olfactory receptor OR14-1; seven transmembrane helix receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:79334); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "11237011;14983052;24800820;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NH07-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH08-1", "uniprot_id": [ { "id": "O10AC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH08", "type": "external" } ], "mass": 35157.0, "length": 325, "protein_name": "Olfactory receptor 10AC1", "gene_name": "OR10AC1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "OR10AC1; OR10AC1P", "gene_names_refseq": "", "protein_names_uniprotkb": "Olfactory receptor 10AC1; Olfactory receptor OR7-5", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-9752946)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "14983052;24800820;27515280;31974307;32066986;32983136;35051231;37938771", "class_list": "", "function": "Odorant receptor., [UniProtKB]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NH08-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH55-1", "uniprot_id": [ { "id": "O52E5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH55", "type": "external" } ], "mass": 36851.0, "length": 327, "protein_name": "Olfactory receptor 52E5", "gene_name": "OR52E5", "organism": "Human", "refseq_name": "olfactory receptor 52E5", "refseq_ac": [ { "id": "NP_001005166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005166", "type": "external" } ], "gene_names_uniprotkb": "OR52E5", "gene_names_refseq": "OR11-56; OR52E5", "protein_names_uniprotkb": "Olfactory receptor 52E5", "protein_names_refseq": "olfactory receptor 52E5; olfactory receptor OR11-56 pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:390082); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "10.1101/2023.09.13.557529;24800820;27515280;31974307;32066986;36215666;37217939", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8NH55-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NH76-1", "uniprot_id": [ { "id": "O56B4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NH76", "type": "external" } ], "mass": 35454.0, "length": 319, "protein_name": "Olfactory receptor 56B4", "gene_name": "OR56B4", "organism": "Human", "refseq_name": "olfactory receptor 56B4", "refseq_ac": [ { "id": "NP_001005181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005181", "type": "external" } ], "gene_names_uniprotkb": "OR56B4", "gene_names_refseq": "OR11-67; OR56B4", "protein_names_uniprotkb": "Olfactory receptor 56B4; Olfactory receptor OR11-67", "protein_names_refseq": "olfactory receptor 56B4; olfactory receptor OR11-67", "tax_id": 9606, "disease": "", "pathway": " (hsa:196335); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "14983052;24800820;27515280;29557506;30524438;31974307;32066986;33592498", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. 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Activated by the synthetic floral odorant, lyral, and by alpha-cedrene, a sesquiterpene constituent of cedarwood oil. Its activation increases intracellular Ca(2+) (PubMed:25791473, PubMed:28842679). Acts as a key regulator of myogenesis through its actions on cell migration and adhesion by activating the Ca(2+)-dependent AKT signal transduction pathway (By similarity). Also acts as a regulator of angiogenesis (PubMed:25791473). Moreover, plays a role in the regulation of lipid accumulation in hepatocytes via the cAMP-PKA pathway (PubMed:28842679). May be involved in sperm chemotaxis and motility (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 20, "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": "B9EH35;Q6IFH2", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0006935 chemotaxis;GO:0055088 lipid homeostasis;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0007517 muscle organ development", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q8NHC4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAX0-1", "uniprot_id": [ { "id": "OSR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAX0", "type": "external" } ], "mass": 29611.0, "length": 266, "protein_name": "Protein odd-skipped-related 1", "gene_name": "OSR1", "organism": "Human", "refseq_name": "protein odd-skipped-related 1", "refseq_ac": [ { "id": "NP_660303", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660303", "type": "external" } ], "gene_names_uniprotkb": "OSR1; ODD", "gene_names_refseq": "ODD; OSR1", "protein_names_uniprotkb": "Protein odd-skipped-related 1", "protein_names_refseq": "odd-skipped homolog; odd-skipped related 1; odd-skipped related transciption factor 1; protein odd-skipped-related 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:130497); (R-HSA-9761174); (R-HSA-9830364)", "pathway_count": 3, "publication_count": 11, "publication_id_list": "12119563;18978678;22032326;24357672;29557506;30244004;30429286;33968037;35051231;35964260;37847567", "class_list": "", "function": "First report on molecular cloning and characterization of human OSR1, [RefSeq, PubMed]; OSR1 disruption contributes to uterine factor infertility via impaired Mullerian duct development and endometrial receptivity. Publication Status: Online-Only, [RefSeq, PubMed]; OSR1 inhibited TSCC cell migration and invasion through inhibiting NF-kappaB pathway Erratum:[Eur J Pharmacol. 2019 Mar 15;847:158. doi: 10.1016/j.ejphar.2018.11.042. Zou A [removed], Wu K [added]. PMID: 30529035], [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Odd-skipped related 1 plays a tumor suppressor role in ovarian cancer via promoting follistatin-like protein 1 transcription., [RefSeq, PubMed]; Transcription factor that plays a role in the regulation of embryonic heart and urogenital development., [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": "B3KV97;D6W521", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:1990837 sequence-specific double-stranded DNA binding;GO:0141110 transporter inhibitor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005938 cell cortex;GO:0000785 chromatin", "go_biological_process": "GO:0034763 negative regulation of transmembrane transport;GO:0072180 mesonephric duct morphogenesis;GO:0072111 cell proliferation involved in kidney development;GO:0072143 mesangial cell development;GO:0072162 metanephric mesenchymal cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8TAX0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PU9-1", "uniprot_id": [ { "id": "CMA1A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PU9", "type": "external" } ], "mass": 27710.0, "length": 254, "protein_name": "Ciliary microtubule associated protein 1A", "gene_name": "CIMAP1A", "organism": "Human", "refseq_name": "ciliary microtubule associated protein 1A isoform 2", "refseq_ac": [ { "id": "NP_001273065", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273065", "type": "external" } ], "gene_names_uniprotkb": "CIMAP1A; ODF3; SHIPPO1; TISP50", "gene_names_refseq": "CIMAP1A; CT135; ODF3; SHIPPO1; TISP50", "protein_names_uniprotkb": "Ciliary microtubule associated protein 1A; Outer dense fiber of sperm tails protein 3; Outer dense fiber protein 3; Sperm tail protein SHIPPO 1; Transcript induced in spermiogenesis protein 50", "protein_names_refseq": "cancer/testis antigen 135; ciliary microtubule associated protein 1A isoform 2; outer dense fiber of sperm tails 3; outer dense fiber protein 3; sperm tail protein SHIPPO1; transcript induced in spermiogenesis protein 50", "tax_id": 9606, "disease": "", "pathway": " (hsa:113746)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11870087;23096689;26758079;34509645", "class_list": "", "function": "Cloning and sequence analysis of h-shippo 1 an orthologue of mouse shippo 1, [RefSeq, PubMed]; ODF3 is a component of sperm flagella outer dense fibers, which add stiffness, elastic recoil, and protection against shearing forces during sperm movement.[supplied by OMIM, Apr 2004]., [RefSeq]; Outer dense fibers are filamentous structures located on the outside of the axoneme in the midpiece and principal piece of the mammalian sperm tail. May help to maintain the passive elastic structures and elastic recoil of the sperm tail., [UniProtKB, UniProtKB]; Two alternative splice variants of ODF3 and ODF4, were found. 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": 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": "B7ZLT0;Q69YX0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001520 outer dense fiber;GO:0005737 cytoplasm;GO:0005856 cytoskeleton", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q96PU9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96R47-1", "uniprot_id": [ { "id": "O2A14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96R47", "type": "external" } ], "mass": 34993.0, "length": 310, "protein_name": "Olfactory receptor 2A14", "gene_name": "OR2A14", "organism": "Human", "refseq_name": "olfactory receptor 2A14", "refseq_ac": [ { "id": "NP_001001659", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001659", "type": "external" } ], "gene_names_uniprotkb": "OR2A14; OR2A14P; OR2A6", "gene_names_refseq": "OR2A14P; OR2A14; OR2A6; OST182", "protein_names_uniprotkb": "Olfactory receptor 2A14; OST182; Olfactory receptor 2A6; Olfactory receptor OR7-12", "protein_names_refseq": "olfactory receptor 2A14; olfactory receptor 2A6; olfactory receptor OR7-12; olfactory receptor, family 2, subfamily A, member 14 pseudogene; olfactory receptor, family 2, subfamily A, member 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:135941); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "14983052;24800820;25977809;27515280;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB, UniProtKB, UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D2G5;Q6IF41;Q8NGT8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0050911 detection of chemical stimulus involved in sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q96R47-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99489-1", "uniprot_id": [ { "id": "OXDD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99489", "type": "external" } ], "mass": 37535.0, "length": 341, "protein_name": "D-aspartate oxidase", "gene_name": "DDO", "organism": "Human", "refseq_name": "D-aspartate oxidase isoform h", "refseq_ac": [ { "id": "NP_001359037", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001359037", "type": "external" } ], "gene_names_uniprotkb": "DDO", "gene_names_refseq": "DASOX; DASPO; DDO-1; DDO-2; DDO", "protein_names_uniprotkb": "D-aspartate oxidase; 1.4.3.1; DASOX; DASPO; DDO", "protein_names_refseq": "D-aspartate oxidase isoform h; D-aspartate oxidase, DDO; aspartic oxidase", "tax_id": 9606, "disease": "congenital nonspherocytic hemolytic anemia 4 (Disease Ontology:DOID:0051005); intellectual disability (Disease Ontology:DOID:1059); heart disease (Disease Ontology:DOID:114); Parkinson's disease (Disease Ontology:DOID:14330); congenital nonspherocytic hemolytic anemia (Disease Ontology:DOID:2861); neuromuscular disease (Disease Ontology:DOID:440); congenital hemolytic anemia (Disease Ontology:DOID:589); acute myeloid leukemia (Disease Ontology:DOID:9119); acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:8528); (R-HSA-389661); (R-HSA-9033241)", "pathway_count": 3, "publication_count": 109, "publication_id_list": "10022913;10484776;10524214;10562279;10673331;10777549;10978532;11101887;11237011;11546814;11781871;11931631;12209855;12456682;12559034;12578380;12717447;12865426;12885776;12899834;13681368;13681370;14170323;15340920;15545321;15802217;15858711;1601857;16616139;16854980;16959974;17007944;1703535;17088322;17669354;17726030;18215067;18359941;18712838;19197237;19208625;19352492;19584060;19632994;1991137;20018850;20178365;20603179;21554508;2158891;21976670;21980954;21998747;22002062;22057399;22371489;22516612;22747494;23391306;2363689;23963456;24235149;24865970;25016021;25538232;25689573;25697095;25747990;25854684;26086376;26138649;26220973;26344566;26858947;27597759;28393897;28521612;28560262;28611990;28629864;28765278;28787099;29292239;30822420;31844290;31914658;32553892;33650155;33968037;3416563;35502931;35915065;37805834;500817;6250440;7719337;7790377;8824437;8858165;8991089;9090381;9090382;9090383;9163533;9539740;9653144;9668159;9820813;9837948", "class_list": "", "function": "Cellular studies of the two main isoforms of human d-aspartate oxidase., [RefSeq, PubMed]; D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic variants in DDO and PEX5L in peroxisome-related pathways predict non-small cell lung cancer survival., [RefSeq, PubMed]; On the regulation of human D-aspartate oxidase., [RefSeq, PubMed]; Selectively catalyzes the oxidative deamination of acidic amino acids (PubMed:1991137, PubMed:20603179, PubMed:23391306, PubMed:25747990, PubMed:28393897, PubMed:28560262, PubMed:28629864, PubMed:29292239, PubMed:31914658, PubMed:32553892, PubMed:9163533). Suppresses the level of D-aspartate in the brain, an amino acid that can act as an agonist for glutamate receptors (PubMed:28560262). Protects the organism from the toxicity of D-amino acids (By similarity). May also function in the intestine (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Selectively catalyzes the oxidative deamination of acidic amino acids. Suppresses the level of D-aspartate in the brain, an amino acid that can act as an agonist for glutamate receptors. Protects the organism from the toxicity of D-amino acids. May also function in the intestine., [UniProtKB, UniProtKB]; The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine dinucleotide can serve as the cofactor in this reaction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2019]., [RefSeq]; Three-dimensional structural analysis contributes insights into the structure-function relationships of human DASPO, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 9, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8KAG4;Q5JXM4;Q5JXM5;Q5JXM6;Q8N552", "ec_number_list": [ { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.1.77", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.77", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.27", "type": "external" }, { "id": "3.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.1", "type": "external" }, { "id": "3.1.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.11", "type": "external" }, { "id": "3.1.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.3", "type": "external" }, { "id": "3.1.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.5", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "2.3.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.42", "type": "external" }, { "id": "1.3.3.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.3.6", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "1.1.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.42", "type": "external" }, { "id": "1.11.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.6", "type": "external" }, { "id": "3.4.24.56", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.56", "type": "external" }, { "id": "1.4.3.3", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.3", "type": "external" }, { "id": "2.6.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.51", "type": "external" }, { "id": "2.6.1.44", "url": "https://www.rhea-db.org/rhea/?query=ec:2.6.1.44", "type": "external" }, { "id": "2.3.1.176", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.176", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.155", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.155", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" }, { "id": "1.14.13.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39", "type": "external" }, { "id": "4.1.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.3.4", "type": "external" }, { "id": "2.3.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.137", "type": "external" }, { "id": "2.3.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.7", "type": "external" }, { "id": "5.3.3.21", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.3.21", "type": "external" }, { "id": "2.3.1.65", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.65", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "1.5.3.13", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.13", "type": "external" }, { "id": "3.4.21.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.53", "type": "external" }, { "id": "1.4.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.4.3.1", "type": "external" }, { "id": "1.1.1.184", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.184", "type": "external" }, { "id": "1.3.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.38", "type": "external" }, { "id": "1.3.1.124", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.124", "type": "external" }, { "id": "1.1.3.15", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.3.15", "type": "external" }, { "id": "1.5.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.1", "type": "external" }, { "id": "1.5.3.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.5.3.7", "type": "external" }, { "id": "5.1.99.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.99.4", "type": "external" }, { "id": "4.1.2.63", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.63", "type": "external" }, { "id": "1.2.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.3.5", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" } ], "go_molecular_function": "GO:0008445 D-aspartate oxidase activity;GO:0071949 FAD binding;GO:0047821 D-glutamate oxidase activity", "go_cellular_component": "GO:0005777 peroxisome;GO:0005782 peroxisomal matrix;GO:0005829 cytosol", "go_biological_process": "GO:0019478 D-amino acid catabolic process;GO:0006533 L-aspartate catabolic process;GO:0050877 nervous system process;GO:0006531 aspartate metabolic process;GO:0010646 regulation of cell communication", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "Q99489-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99983-1", "uniprot_id": [ { "id": "OMD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99983", "type": "external" } ], "mass": 49492.0, "length": 421, "protein_name": "Osteomodulin", "gene_name": "OMD", "organism": "Human", "refseq_name": "osteomodulin precursor", "refseq_ac": [ { "id": "NP_005005", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005005", "type": "external" } ], "gene_names_uniprotkb": "OMD; PRO216; SLRR2C", "gene_names_refseq": "OMD; OSAD; SLRR2C", "protein_names_uniprotkb": "Osteomodulin; KSPG osteomodulin; Keratan sulfate proteoglycan osteomodulin; OSAD; Osteoadherin", "protein_names_refseq": "KSPG osteomodulin; keratan sulfate proteoglycan osteomodulin; osteoadherin proteoglycan; osteomodulin precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:4958); (R-HSA-2022854); (R-HSA-2022857); (R-HSA-3656225); (R-HSA-3656243); (R-HSA-3656244)", "pathway_count": 6, "publication_count": 57, "publication_id_list": "10206952;10491328;10504389;11017086;11030741;11042166;11042394;11283017;11588157;11821425;11901181;12218059;12489179;12888274;12975309;14551184;1463457;15013869;1522213;15486459;15560372;15620693;15647514;17021253;17120046;1714903;1794986;1907800;1928092;20232353;21907012;22940367;23252400;24715725;25892735;26003732;2971395;29741879;29769354;30429286;31324691;31844290;3196333;33715137;35135320;37017425;37074911;38034954;5822067;7213753;8333853;8611500;8920913;9405439;9417100;9521684;9597550", "class_list": "", "function": "May be implicated in biomineralization processes. Has a function in binding of osteoblasts via the alpha(V)beta(3)-integrin., [UniProtKB, UniProtKB]; Osteomodulin (OMD) directly binds to type 1 collagen. OMD suppresses formation of collagen fibrils., [RefSeq, PubMed]; Osteomodulin Gene Expression Is Associated With Plaque Calcification, Stability, and Fewer Cardiovascular Events in the CPIP Cohort., [RefSeq, PubMed]; Osteomodulin contributes to keloid development by regulating p38 MAPK signaling., [RefSeq, PubMed]; Osteomodulin is a Potential Genetic Target for Hypertrophic Cardiomyopathy., [RefSeq, PubMed]; TGF beta 1 signaling and stimulation of osteoadherin in human pulpal fibroblasts and in early secretory and mature odontoblasts, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q5TBF4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005796 Golgi lumen;GO:0070062 extracellular exosome;GO:0043202 lysosomal lumen", "go_biological_process": "GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 7.0, "record_id": "Q99983-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BUH6-1", "uniprot_id": [ { "id": "PAXX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BUH6", "type": "external" } ], "mass": 21640.0, "length": 204, "protein_name": "Protein PAXX", "gene_name": "PAXX", "organism": "Human", "refseq_name": "protein PAXX isoform 2", "refseq_ac": [ { "id": "NP_899064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_899064", "type": "external" } ], "gene_names_uniprotkb": "PAXX; C9orf142; XLS", "gene_names_refseq": "C9orf142; PAXX; XLS", "protein_names_uniprotkb": "Protein PAXX; Paralog of XRCC4 and XLF; XRCC4-like small protein", "protein_names_refseq": "XRCC4-like small protein; paralog of XRCC4 and XLF; protein PAXX isoform 2; protein PAXX", "tax_id": 9606, "disease": "", "pathway": " (hsa:286257)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "16964243;17081983;18212344;18669648;18691976;18707149;19413330;19415658;19651622;19664994;19664995;20058876;20068231;20166139;21406692;22424782;23186163;23301498;24275569;25574025;25576301;25670504;25941166;26992070;27063109;27601299;27703001;27705800;28510447;28904123;29144403;29351928;30238427;30250067;30429286;30579708;31731258;31844290;32157095;32387766;32897882;32938616;32983136;33298915;33968037;34405274;34509645;35051231;35132862;36241641;37256950;40596516", "class_list": "", "function": "Absence of XRCC4 and its paralogs in human cells reveal differences in outcomes for DNA repair and V(D)J recombination., [RefSeq, PubMed]; Although PAXX-deficient cells lack c-NHEJ phenotypes, PAXX forms a stable ternary complex with Ku bound to DNA. Thus, PAXX plays an accessory role during c-NHEJ that is largely overlapped by XLF's function., [RefSeq, PubMed]; Non-essential DNA repair protein involved in DNA non-homologous end joining (NHEJ); participates in double-strand break (DSB) repair and V(D)J recombination (PubMed:25574025, PubMed:25670504, PubMed:25941166, PubMed:27705800). May act as a scaffold required for accumulation of the Ku heterodimer, composed of XRCC5/Ku80 and XRCC6/Ku70, at double-strand break sites and promote the assembly and/or stability of the NHEJ machinery (PubMed:25574025, PubMed:25670504, PubMed:25941166). Involved in NHEJ by promoting the ligation of blunt-ended DNA ends (PubMed:27703001). Together with NHEJ1/XLF, collaborates with DNA polymerase lambda (POLL) to promote joining of non-cohesive DNA ends (PubMed:25670504, PubMed:30250067). Constitutes a non-essential component of classical NHEJ: has a complementary but distinct function with NHEJ1/XLF in DNA repair (PubMed:27705800). Able to restrict infection by herpesvirus 1 (HSV-1) via an unknown mechanism (PubMed:29144403)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PAXX binding to the NHEJ machinery explains functional redundancy with XLF. Erratum:[Sci Adv. 2023 Sep 29;9(39):eadj8489. doi: 10.1126/sciadv.adj8489. PMID: 37774037], [RefSeq, PubMed]; PAXX contributes to base excision repair pathway via interaction of polymerase beta. PAXX deficiency causes TMZ sensitivity., [RefSeq, PubMed]; PAXX promotes Ku-dependent DNA ligation in vitro and assembly of core nonhomologous end-joining (NHEJ) factors on damaged chromatin in cells. These findings identify PAXX as a new component of the NHEJ machinery., [RefSeq, PubMed]; Synthetic lethality between DNA repair factors Xlf and Paxx is rescued by inactivation of Trp53, [RefSeq, PubMed]; The protein encoded by this gene plays a role in the nonhomologous end joining (NHEJ) pathway of DNA double-strand break repair. The encoded protein may function to stabilize the Ku70/Ku80 heterodimer to facilitate the assembly and maintain the stability of the NHEJ complex. [provided by RefSeq, Jul 2016]., [RefSeq]; These data identify PAXX as a new Non-homologous end joining factor. 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": 6, "reported_mutagensis": 10, "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": "Q8IY19", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0070182 DNA polymerase binding", "go_cellular_component": "GO:0070419 nonhomologous end joining complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0035861 site of double-strand break", "go_biological_process": "GO:0006974 DNA damage response;GO:0006303 double-strand break repair via nonhomologous end joining", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9BUH6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXW6-1", "uniprot_id": [ { "id": "OSBL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXW6", "type": "external" } ], "mass": 108470.0, "length": 950, "protein_name": "Oxysterol-binding protein-related protein 1", "gene_name": "OSBPL1A", "organism": "Human", "refseq_name": "oxysterol-binding protein-related protein 1 isoform 3", "refseq_ac": [ { "id": "NP_001229437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229437", "type": "external" } ], "gene_names_uniprotkb": "OSBPL1A; ORP1; OSBP8; OSBPL1B; OSBPL1", "gene_names_refseq": "ORP-1; ORP1; OSBPL1A; OSBPL1B", "protein_names_uniprotkb": "Oxysterol-binding protein-related protein 1; ORP-1; OSBP-related protein 1", "protein_names_refseq": "OSBP-related protein 1; oxysterol binding protein-like 1B; oxysterol-binding protein-related protein 1 isoform 3", "tax_id": 9606, "disease": "visceral heterotaxy (Disease Ontology:DOID:0050545)", "pathway": " (hsa:114876); (R-HSA-192105); (R-HSA-2132295)", "pathway_count": 3, "publication_count": 126, "publication_id_list": "10036229;10064083;10072072;10480952;10540230;10593899;10631941;10631952;10639150;10748235;10809954;11237011;11279184;11483621;11529500;11684289;11735225;11790530;11802775;11813165;11853874;12078484;12198549;12631712;12742663;12748383;14731593;15749704;15911768;16176980;16181339;16242130;16618111;16824007;17081983;17142755;17283181;17428193;18046453;18292509;18669648;1956401;19564404;19651622;20068231;21116285;2121367;21406692;21441454;2190094;23186163;23428468;23481700;23830809;2391366;24209621;24742681;25576301;25645385;26715851;26992070;27397612;27600516;28218747;28228285;28834231;28904123;29242379;29437277;29557506;29786170;29858488;30379171;30429286;31154438;31844290;32157095;32357974;32387766;32488085;32897882;32938616;32983136;33124732;33298915;33592498;33717175;33912179;33968037;33981976;34185709;34405274;34504082;34509645;35051231;35580925;36010968;36241641;37017523;37938771;7481823;7592972;7650016;7667286;8046351;8134367;8145819;8148318;8313912;8397411;8415765;8642258;8687433;8849454;8909537;8939989;8947036;9075930;9202021;9311912;9312039;9497313;9539769;9545226;9606180;9852097", "class_list": "", "function": "Binds phospholipids; exhibits strong binding to phosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (By similarity). Stabilizes GTP-bound RAB7A on late endosomes/lysosomes and alters functional properties of late endocytic compartments via its interaction with RAB7A (PubMed:16176980). Binds 25-hydroxycholesterol and cholesterol (PubMed:17428193)., [UniProtKB, PubMed, PubMed]; Host Lipid Transport Protein ORP1 Is Necessary for Coxiella burnetii Growth and Vacuole Expansion in Macrophages., [RefSeq, PubMed]; ORP1L mediated PI(4)P signaling at ER-lysosome-mitochondrion three-way contact contributes to mitochondrial division. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that the two forms of oxysterol binding protein-related protein-1 (ORP1) are functionally distinct and that ORP1L is involved in control of cellular lipid metabolism, [RefSeq, PubMed]; This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. Transcript variants derived from alternative promoter usage and/or alternative splicing exist; they encode 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": 1, "reported_mutagensis": 1, "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": "B7Z7D3;Q9BZF5;Q9NW87", "ec_number_list": [], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0015485 cholesterol binding;GO:0120015 sterol transfer activity;GO:0032935 sterol sensor activity", "go_cellular_component": "GO:0044232 organelle membrane contact site;GO:0005768 endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006699 bile acid biosynthetic process;GO:0008203 cholesterol metabolic process;GO:0042632 cholesterol homeostasis;GO:0016192 vesicle-mediated transport;GO:0090120 lysosome to ER cholesterol transport", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q9BXW6-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZ23-1", "uniprot_id": [ { "id": "PANK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZ23", "type": "external" } ], "mass": 62681.0, "length": 570, "protein_name": "Pantothenate kinase 2, mitochondrial", "gene_name": "PANK2", "organism": "Human", "refseq_name": "pantothenate kinase 2, mitochondrial isoform 2", "refseq_ac": [ { "id": "NP_001311120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001311120", "type": "external" } ], "gene_names_uniprotkb": "PANK2; C20orf48", "gene_names_refseq": "C20orf48; HARP; HSS; NBIA1; PANK2; PKAN", "protein_names_uniprotkb": "Pantothenate kinase 2, mitochondrial; 2.7.1.33; Pantothenic acid kinase 2; hPanK2", "protein_names_refseq": "Hallervorden-Spatz syndrome; pantothenate kinase 2, mitochondrial isoform 2; pantothenate kinase 2, mitochondrial; pantothenate kinase-associated neurodegeneration; pantothenic acid kinase 2", "tax_id": 9606, "disease": "neurodegeneration with brain iron accumulation (Disease Ontology:DOID:0110734); pantothenate kinase-associated neurodegeneration (Disease Ontology:DOID:3981)", "pathway": " (hsa:80025); (R-HSA-196783)", "pathway_count": 2, "publication_count": 83, "publication_id_list": "11237011;11479594;11923312;11994049;12058097;12095677;12510040;12554685;12906824;14514684;14523052;15105273;15581364;15659606;15834858;15893380;16040613;16272150;17242360;17322306;17825826;18212344;18669648;18691976;18767875;19413330;19651622;19664994;19664995;19690332;20058876;20068231;20166139;20603201;21406692;22930366;23152917;23186163;24075960;24275569;24655737;25576301;26375851;27185474;27862975;28904123;29351928;29557506;30221726;30379171;30779550;30833945;31154438;31222486;31530632;31844290;31937595;32157095;32161166;32488085;32502341;32897882;32938616;32983136;33141586;33592498;33691108;33968037;33981976;34087483;34171305;34211107;34405274;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36983025;37938771;38506547", "class_list": "", "function": "An unconventional translational start codon, CUG, which is polymorphic in the general population is proposed. PANK2 is predicted to localize to mitochondria, with a 29 amino acid mitochondrial targeting sequence identified., [RefSeq, PubMed]; Cytoplasmic isoform that catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis., [UniProtKB, PubMed]; Findings validate expression of the short PANK2 isoform and enable predictions about potentially deleterious sequence variants in the regulatory region of this human disease gene, [RefSeq, PubMed]; Mitochondrial isoform that catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis (PubMed:15659606, PubMed:16272150, PubMed:17242360, PubMed:17825826). Required for angiogenic activity of umbilical vein of endothelial cells (HUVEC) (PubMed:30221726)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Novel PANK2 Variant in Asian Indians with Atypical Pantothenate Kinase Associated Neurodegeneration., [RefSeq, PubMed]; These results suggest that neurodegeneration with brain iron accumulation (NBIA; formerly Hallervorden-Spatz disease) is caused by altered neuronal mitochondrial lipid metabolism caused by mutations disrupting PanK2 protein levels and catalytic activity. GeneRIF: Demonstrated that the mitochondrial isoform is sequentially cleaved at two sites by the mitochondrial processing peptidase, generating a long-lived 48 kDa mature protein localized to mitochondria of neurons in human brain., [RefSeq, PubMed]; This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by acyl CoA species. Mutations in this gene are associated with HARP syndrome and pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Alternative splicing, involving the use of alternate first exons, results in multiple transcripts encoding different 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 2, "reported_glycation": 0, "reported_snv": 8, "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": "B1AK33;B2Z3X0;D3DVZ0;Q5T7I2;Q5T7I4;Q7RTX5;Q8N7Q4;Q8TCR5;Q9BYW5;Q9HAF2", "ec_number_list": [ { "id": "2.7.1.33", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.33", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004594 pantothenate kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space;GO:0005829 cytosol", "go_biological_process": "GO:0001525 angiogenesis;GO:0015939 pantothenate metabolic process;GO:0019217 regulation of fatty acid metabolic process;GO:0015937 coenzyme A biosynthetic process;GO:0090207 regulation of triglyceride metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q9BZ23-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZM2-1", "uniprot_id": [ { "id": "PA2GF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZM2", "type": "external" } ], "mass": 18658.0, "length": 168, "protein_name": "Group IIF secretory phospholipase A2", "gene_name": "PLA2G2F", "organism": "Human", "refseq_name": "group IIF secretory phospholipase A2 isoform 1", "refseq_ac": [ { "id": "NP_073730", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_073730", "type": "external" } ], "gene_names_uniprotkb": "PLA2G2F", "gene_names_refseq": "GIIFsPLA2; PLA2G2F; sPLA2-IIF", "protein_names_uniprotkb": "Group IIF secretory phospholipase A2; 3.1.1.4; GIIF sPLA2; Phosphatidylcholine 2-acylhydrolase 2F; sPLA2-IIF", "protein_names_refseq": "GIIF sPLA2; group IIF secretory phospholipase A2 isoform 1; group IIF secretory phospholipase A2; phosphatidylcholine 2-acylhydrolase 2F", "tax_id": 9606, "disease": "", "pathway": " (hsa:64600); (R-HSA-1482788); (R-HSA-1482801); (R-HSA-1482839); (R-HSA-1482922); (R-HSA-1482925); (R-HSA-1483166)", "pathway_count": 7, "publication_count": 97, "publication_id_list": "10.1101/2023.09.13.557529;10085124;10092647;10196188;10336645;10358058;10455175;10506173;10553003;10681567;11031251;11112443;11788596;11830583;11877435;12063250;12150957;12161451;12359733;12522102;12963729;14573790;14709560;15367102;15485873;15695510;15863501;15944408;1618844;16243729;16460752;16495223;16617059;16620771;16704971;16818490;16864775;17028579;17101204;17170135;17182612;17707131;18094042;18195019;18238778;18287005;18458083;18614531;18718904;18772128;18781350;19019078;1904318;19336658;19351971;19501189;19554302;19666841;20025994;20056178;20705608;21173190;21220512;21515882;22605381;22777291;22825852;22906437;22922100;23176821;23176823;23807634;23934110;24269828;24966474;26206935;26463208;26503625;26711011;2925608;2925633;29557506;3458202;7060561;7821823;8083230;8163052;8186247;8300559;8530346;8687421;9188469;9212163;9417066;9461603;9582313;9705332", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Secretory calcium-dependent phospholipase A2 that primarily targets extracellular phospholipids. Hydrolyzes the ester bond of the fatty acyl group attached at the sn-2 position of phospholipids (phospholipase A2 activity), the catalytic efficiency decreasing in the following order: phosphatidylglycerols > phosphatidylethanolamines > phosphatidylcholines > phosphatidylserines (PubMed:11112443). May play a role in lipid mediator production in inflammatory conditions, by providing arachidonic acid to downstream cyclooxygenases and lipoxygenases (By similarity)., [UniProtKB, PubMed, UniProtKB]; Two of these isoforms, sPLA2 IIA and sPLA2 IIF, localize to the upper stratum granulosum and increase in response to experimental barrier perturbation., [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": 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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5R385;Q8N217;Q9H506", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" } ], "go_molecular_function": "GO:0005543 phospholipid binding;GO:0005509 calcium ion binding;GO:0004623 phospholipase A2 activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0036148 phosphatidylglycerol acyl-chain remodeling;GO:0045087 innate immune response;GO:0016042 lipid catabolic process;GO:0042130 negative regulation of T cell proliferation;GO:0050482 arachidonate secretion", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q9BZM2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H340-1", "uniprot_id": [ { "id": "O51B6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H340", "type": "external" } ], "mass": 35269.0, "length": 312, "protein_name": "Olfactory receptor 51B6", "gene_name": "OR51B6", "organism": "Human", "refseq_name": "olfactory receptor 51B6", "refseq_ac": [ { "id": "NP_001004750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004750", "type": "external" } ], "gene_names_uniprotkb": "OR51B6", "gene_names_refseq": "HOR5'Beta6; OR51B6", "protein_names_uniprotkb": "Olfactory receptor 51B6; Odorant receptor HOR5'beta6", "protein_names_refseq": "odorant receptor HOR5'beta6; olfactory receptor 51B5; olfactory receptor 51B6", "tax_id": 9606, "disease": "", "pathway": " (hsa:390058); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 6, "publication_id_list": "11121057;20018918;24800820;27515280;31974307;32066986", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell;GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9H340-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H343-1", "uniprot_id": [ { "id": "O51I1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H343", "type": "external" } ], "mass": 35484.0, "length": 314, "protein_name": "Olfactory receptor 51I1", "gene_name": "OR51I1", "organism": "Human", "refseq_name": "olfactory receptor 51I1", "refseq_ac": [ { "id": "NP_001005288", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005288", "type": "external" } ], "gene_names_uniprotkb": "OR51I1", "gene_names_refseq": "OR51I1", "protein_names_uniprotkb": "Olfactory receptor 51I1; Odorant receptor HOR5'beta11; Olfactory receptor OR11-39", "protein_names_refseq": "HOR5'Beta11; odorant receptor HOR5'beta11; olfactory receptor 51I1; olfactory receptor OR11-39", "tax_id": 9606, "disease": "", "pathway": " (hsa:390063); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "11121057;14983052;24715725;24800820;27515280;29557506;31974307;32066986", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B9EKW2;Q6IF33", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell;GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9H343-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRJ5-1", "uniprot_id": [ { "id": "PAPOB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRJ5", "type": "external" } ], "mass": 71813.0, "length": 637, "protein_name": "Poly(A) polymerase beta", "gene_name": "PAPOLB", "organism": "Human", "refseq_name": "poly(A) polymerase beta", "refseq_ac": [ { "id": "NP_064529", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064529", "type": "external" } ], "gene_names_uniprotkb": "PAPOLB; PAPT", "gene_names_refseq": "PAPOLB; PAPT; TPAP", "protein_names_uniprotkb": "Poly(A) polymerase beta; 2.7.7.19; PAP-beta; Polynucleotide adenylyltransferase beta; Testis-specific poly(A) polymerase", "protein_names_refseq": "PAP-beta; poly(A) polymerase beta (testis specific); poly(A) polymerase beta; polynucleotide adenylyltransferase beta; testis-specific poly(A) polymerase", "tax_id": 9606, "disease": "", "pathway": " (hsa:56903)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q75LH1;Q8NE14", "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:0003723 RNA binding;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:1990817 poly(A) RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0006397 mRNA processing;GO:0031123 RNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q9NRJ5-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZP5-1", "uniprot_id": [ { "id": "O5AC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZP5", "type": "external" } ], "mass": 35304.0, "length": 309, "protein_name": "Olfactory receptor 5AC2", "gene_name": "OR5AC2", "organism": "Human", "refseq_name": "olfactory receptor 5AC2", "refseq_ac": [ { "id": "NP_473447", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_473447", "type": "external" } ], "gene_names_uniprotkb": "OR5AC2", "gene_names_refseq": "HSA1; OR5AC2", "protein_names_uniprotkb": "Olfactory receptor 5AC2; HSA1", "protein_names_refseq": "olfactory receptor 5AC2", "tax_id": 9606, "disease": "", "pathway": " (hsa:81050); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 7, "publication_id_list": "10706615;24800820;27515280;31974307;32066986;32938616;35051231", "class_list": "", "function": "Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007608 sensory perception of smell", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9NZP5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGF5-1", "uniprot_id": [ { "id": "O14J1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGF5", "type": "external" } ], "mass": 35892.0, "length": 321, "protein_name": "Olfactory receptor 14J1", "gene_name": "OR14J1", "organism": "Human", "refseq_name": "olfactory receptor 14J1", "refseq_ac": [ { "id": "NP_112208", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112208", "type": "external" } ], "gene_names_uniprotkb": "OR14J1; OR5U1", "gene_names_refseq": "OR14J1; OR5U1; OR6-25; bA150A6.4; hs6M1-28", "protein_names_uniprotkb": "Olfactory receptor 14J1; Hs6M1-28; Olfactory receptor 5U1; Olfactory receptor OR6-25", "protein_names_refseq": "olfactory receptor 14J1; olfactory receptor 5U1; olfactory receptor OR6-25; olfactory receptor, family 5, subfamily U member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:442191); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 22, "publication_id_list": "10460249;14983052;15598656;17601748;17873857;17973576;19474308;19581598;19851445;24316890;24800820;25784876;25977809;26373539;27515280;27916747;27916748;28656349;29235485;31040214;31974307;32066986", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A2BEC2;B0V078;Q5ST27", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity;GO:0005549 odorant binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9UGF5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULR5-1", "uniprot_id": [ { "id": "PAI2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULR5", "type": "external" } ], "mass": 14237.0, "length": 123, "protein_name": "Polyadenylate-binding protein-interacting protein 2B", "gene_name": "PAIP2B", "organism": "Human", "refseq_name": "polyadenylate-binding protein-interacting protein 2B", "refseq_ac": [ { "id": "NP_065192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065192", "type": "external" } ], "gene_names_uniprotkb": "PAIP2B; KIAA1155", "gene_names_refseq": "PAIP2B", "protein_names_uniprotkb": "Polyadenylate-binding protein-interacting protein 2B; PABP-interacting protein 2B; PAIP-2B; Poly(A)-binding protein-interacting protein 2B", "protein_names_refseq": "PABP-interacting protein 2B; PAIP-2B; polyadenylate-binding protein-interacting protein 2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:400961)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "16804161;19413330;28470677", "class_list": "", "function": "Inhibits translation of capped and polyadenylated mRNAs by displacing PABPC1 from the poly(A) tail., [UniProtKB, PubMed]; Most mRNAs, except for histones, contain a 3-prime poly(A) tail. Poly(A)-binding protein (PABP; see MIM 604679) enhances translation by circularizing mRNA through its interaction with the translation initiation factor EIF4G1 (MIM 600495) and the poly(A) tail. Various PABP-binding proteins regulate PABP activity, including PAIP1 (MIM 605184), a translational stimulator, and PAIP2A (MIM 605604) and PAIP2B, translational inhibitors (Derry et al., 2006 [PubMed 17381337]).[supplied by OMIM, Mar 2008]., [RefSeq]; Study provides evidence that a low-frequency SNP of the translation inhibitor gene PAIP2B with a significant association with pancreatic cancer survival., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0000900 mRNA regulatory element binding translation repressor activity;GO:0030371 translation repressor activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0017148 negative regulation of translation;GO:0045947 negative regulation of translational initiation", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q9ULR5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2G5-3", "uniprot_id": [ { "id": "OFUT2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2G5", "type": "external" } ], "mass": 49976.0, "length": 429, "protein_name": "GDP-fucose protein O-fucosyltransferase 2", "gene_name": "POFUT2", "organism": "Human", "refseq_name": "GDP-fucose protein O-fucosyltransferase 2 isoform A precursor", "refseq_ac": [ { "id": "NP_056042", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056042", "type": "external" } ], "gene_names_uniprotkb": "POFUT2; C21orf80; FUT13; KIAA0958", "gene_names_refseq": "C21orf80; FUT13; POFUT2", "protein_names_uniprotkb": "GDP-fucose protein O-fucosyltransferase 2; 2.4.1.221; O-FucT-2; Peptide-O-fucosyltransferase 2", "protein_names_refseq": "GDP-fucose protein O-fucosyltransferase 2 isoform A precursor; GDP-fucose protein O-fucosyltransferase 2; O-FucT-2; peptide-O-fucosyltransferase 2", "tax_id": 9606, "disease": "Down syndrome (Disease Ontology:DOID:14250)", "pathway": " (hsa:23275); (R-HSA-5173214)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10.1101/2023.09.13.557529;11067851;12966037;15233996;16464858;17395588;17395589;19796186;20549515;22588082;23889335;24190977;25544610;27773385;27920218;28904123;29242379;29314611;29393594;29557506;29632046;31154438;31530632;31844290;32265295;32350084;32387766;32938616;33592498;33912179;33968037;34019948;35138101;35580925;36010968;36260536;37074911;38665916", "class_list": "glycogene;glycosyltransferase", "function": "Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008]., [RefSeq]; GDP-fucose protein O-fucosyltransferase involved in one of the two pathways responsible for protein O-linked fucosylation, a unique post-translational modification of cysteine-knotted proteins that regulates various biological functions. This pathway targets proteins with Thrombospondin type-1 (TSP1) repeats (TSR) in the endoplasmic reticulum. Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in the consensus sequence C1-X-X-S/T-C2 of thrombospondin type I repeats (TSRs) where C1 and C2 are the first and second cysteines of the repeat, respectively (PubMed:22588082). O-fucosylates members of several protein families including the ADAMTS, the thrombospondin (TSP) and spondin families (Probable) (PubMed:17395588). Required for the proper secretion of ADAMTS family members such as ADAMTSL1 and ADAMTS13 (PubMed:17395588, PubMed:17395589). The O-fucosylation of TSRs is also required for restricting epithelial to mesenchymal transition (EMT), maintaining the correct patterning of mesoderm and localization of the definite endoderm (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; POFUT2 and B3GLCT mediate a noncanonical endoplasmic reticulum quality-control mechanism that recognizes folded thrombospondin type 1 repeats and stabilizes them by glycosylation., [RefSeq, PubMed]; Structure of human POFUT2: insights into thrombospondin type 1 repeat fold and O-fucosylation., [RefSeq, PubMed]; The Essential Role of Water Molecules in the Reaction Mechanism of Protein O-Fucosyltransferase 2., [RefSeq, PubMed]; This study demonstrated that the alteration of POFUT2 expression in the superior temporal gyrus of elderly 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": 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": 8, "reported_glycation": 0, "reported_snv": 518, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q6PJV1;Q7Z4N0;Q8WWU6;Q9BQS4;Q9BQS5;Q9UFY3", "ec_number_list": [ { "id": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "3.4.24.82", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.82", "type": "external" }, { "id": "3.4.24.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.14", "type": "external" }, { "id": "2.4.1.221", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.221", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "3.4.24.87", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.87", "type": "external" } ], "go_molecular_function": "GO:0046922 peptide-O-fucosyltransferase activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:1903334 positive regulation of protein folding;GO:0036066 protein O-linked glycosylation via fucose;GO:0051046 regulation of secretion;GO:0006004 fucose metabolic process", "synthesized_glycan_count": 158, "hit_score": 5.4, "record_id": "Q9Y2G5-3", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2J8-1", "uniprot_id": [ { "id": "PADI2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2J8", "type": "external" } ], "mass": 75564.0, "length": 665, "protein_name": "Protein-arginine deiminase type-2", "gene_name": "PADI2", "organism": "Human", "refseq_name": "protein-arginine deiminase type-2", "refseq_ac": [ { "id": "NP_031391", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_031391", "type": "external" } ], "gene_names_uniprotkb": "PADI2; KIAA0994; PAD2; PDI2", "gene_names_refseq": "PAD-H19; PAD2; PADI2; PDI2", "protein_names_uniprotkb": "Protein-arginine deiminase type-2; 3.5.3.15; PAD-H19; Peptidylarginine deiminase II; Protein-arginine deiminase type II", "protein_names_refseq": "peptidyl arginine deiminase, type II; protein-arginine deiminase type II; protein-arginine deiminase type-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:11240); (R-HSA-3247509); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 47, "publication_id_list": "11069618;12392711;12416996;15087120;15339660;15345777;15555572;15629448;17303166;23650620;25548167;25576301;25621824;26992070;27920218;28218747;28855257;28904123;29242379;29331515;29437277;29557506;29786170;29789417;30044909;30315122;30429286;30779550;31154438;31217245;31844290;31848261;32938616;32983136;33141586;33392160;33937418;34171305;35051231;35318648;35580925;36076933;37759458;37846733;38253209;38281661;8692836", "class_list": "", "function": "Analysis of the diagnostic and prognostic value of serum PAD2 in patients with sepsis in the intensive care unit., [RefSeq, PubMed]; Catalyzes the deimination of arginine residues of proteins., [UniProtKB, PubMed, PubMed, PubMed]; Comparative evaluation of semaphorin-4D, peptidylarginine deiminase-2, and matrix metalloproteinase-8 levels of gingival crevicular fluid in periodontally healthy and Stage III periodontitis smoker and non-smoker patients before and after non-surgical periodontal therapy., [RefSeq, PubMed]; First report to demonstrate a measurable response in the amounts of peptidylarginine deiminase type II mRNA, protein and activity in human astrocytes by prolonged hypoxic exposure, [RefSeq, PubMed]; HPADI2 and hPADI4 have different roles under physiological and pathological conditions, [RefSeq, PubMed]; Molecular Factors in PAD2 (PADI2) and PAD4 (PADI4) Are Associated with Interstitial Lung Disease Susceptibility in Rheumatoid Arthritis Patients. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular cloning and gene organization; expressed by all the living epidermal layers, suggesting that PAD type II is functionally important during terminal differentiation of epidermal keratinocytes, [RefSeq, PubMed]; PAD2 dysregulation and aberrant protein citrullination feature prominently in reactive astrogliosis and myelin protein aggregation in sporadic ALS., [RefSeq, PubMed]; Peptidylarginine Deiminase 2 Gene Polymorphisms in Subjects with Periodontitis Predispose to Rheumatoid Arthritis. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous 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": 0, "reported_mutagensis": 14, "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": "Q96DA7;Q9UPN2", "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:0004668 protein-arginine deiminase activity;GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding;GO:0030331 nuclear estrogen receptor binding;GO:0140794 histone arginine deiminase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0070100 negative regulation of chemokine-mediated signaling pathway;GO:1901624 negative regulation of lymphocyte chemotaxis;GO:0006338 chromatin remodeling;GO:0021762 substantia nigra development;GO:0045815 transcription initiation-coupled chromatin remodeling", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9Y2J8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y536-1", "uniprot_id": [ { "id": "PAL4A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y536", "type": "external" } ], "mass": 18182.0, "length": 164, "protein_name": "Peptidyl-prolyl cis-trans isomerase A-like 4A", "gene_name": "PPIAL4A", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase A-like 4A", "refseq_ac": [ { "id": "NP_001137355", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137355", "type": "external" } ], "gene_names_uniprotkb": "PPIAL4A; COAS2; PPIAL4B", "gene_names_refseq": "COAS-2; COAS2; PPIAL4A; PPIAL4B; PPIAL4", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase A-like 4A; 5.2.1.8; COAS-2; Chromosome one-amplified sequence 2; Cyclophilin homolog overexpressed in liver cancer; PPIase A-like 4A", "protein_names_refseq": "PPIase A-like 4B; PPIase A-like 4G; chromosome 1-amplified sequence 2; chromosome one-amplified sequence 2; cyclophilin homolog overexpressed in liver cancer; cyclophilin-LC (COAS2); peptidyl-prolyl cis-trans isomerase A-like 4A/B/C; peptidyl-prolyl cis-trans isomerase A-like 4A; peptidylprolyl cis-trans isomerase A-like 4B; peptidylprolyl isomerase A (cyclophilin A)-like 4A; peptidylprolyl isomerase A (cyclophilin A)-like 4B", "tax_id": 9606, "disease": "", "pathway": " (hsa:653505)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11948409;26154972;28038796;33392160", "class_list": "", "function": "CyPA mediates the ox-LDL-induced activation and apoptosis in RAW264.7 cells by regulating autophagy., [RefSeq, PubMed]; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (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": 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": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0016018 cyclosporin A binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q9Y536-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5P1-1", "uniprot_id": [ { "id": "O51B2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5P1", "type": "external" } ], "mass": 35373.0, "length": 312, "protein_name": "Olfactory receptor 51B2", "gene_name": "OR51B2", "organism": "Human", "refseq_name": "olfactory receptor 51B2", "refseq_ac": [ { "id": "NP_149420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149420", "type": "external" } ], "gene_names_uniprotkb": "OR51B2; OR51B1P", "gene_names_refseq": "HOR5'Beta3; OR51B1P; OR51B2", "protein_names_uniprotkb": "Olfactory receptor 51B2; Odorant receptor HOR5'beta3; Olfactory receptor 51B1", "protein_names_refseq": "odorant receptor HOR5'beta3; olfactory receptor 51B1; olfactory receptor 51B2", "tax_id": 9606, "disease": "", "pathway": " (hsa:79345); (R-HSA-9752946)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "10220430;24715725;24800820;25418920;27515280;28228285;31974307;32066986;33398168;34087483;35051231;35113854;35494241;37217939", "class_list": "", "function": "From musk to body odor: Decoding olfaction through genetic variation. Publication Status: Online-Only, [RefSeq, PubMed]; Odorant receptor., [UniProtKB]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q17R53;Q96RD4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0004984 olfactory receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0071396 cellular response to lipid", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q9Y5P1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A075B759-1", "uniprot_id": [ { "id": "PAL4E_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A075B759", "type": "external" } ], "mass": 18197.0, "length": 164, "protein_name": "Peptidyl-prolyl cis-trans isomerase A-like 4E", "gene_name": "PPIAL4E", "organism": "Human", "refseq_name": "peptidyl-prolyl cis-trans isomerase A-like 4E", "refseq_ac": [ { "id": "NP_001137504", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137504", "type": "external" } ], "gene_names_uniprotkb": "PPIAL4E", "gene_names_refseq": "COAS2; PPIAL4E", "protein_names_uniprotkb": "Peptidyl-prolyl cis-trans isomerase A-like 4E; 5.2.1.8; PPIase A-like 4E", "protein_names_refseq": "PPIase A-like 4E; peptidyl-prolyl cis-trans isomerase A-like 4E; peptidylprolyl isomerase A (cyclophilin A)-like 4E", "tax_id": 9606, "disease": "", "pathway": " (hsa:728945); (hsa:730262)", "pathway_count": 2, "publication_count": 4, "publication_id_list": "22320715;30444036;31844290;32387766", "class_list": "", "function": "Association of increased ligand cyclophilin A and receptor CD147 with hypoxia, angiogenesis, metastasis and prognosis of tongue squamous cell carcinoma., [RefSeq, PubMed]; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0016018 cyclosporin A binding;GO:0003755 peptidyl-prolyl cis-trans isomerase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A0A075B759-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5E1-1", "uniprot_id": [ { "id": "PCDB9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5E1", "type": "external" } ], "mass": 87127.0, "length": 797, "protein_name": "Protocadherin beta-9", "gene_name": "PCDHB9", "organism": "Human", "refseq_name": "protocadherin beta-9 precursor", "refseq_ac": [ { "id": "NP_061992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061992", "type": "external" } ], "gene_names_uniprotkb": "PCDHB9; PCDH3H", "gene_names_refseq": "PCDH-BETA9; PCDH3H; PCDHB9", "protein_names_uniprotkb": "Protocadherin beta-9; PCDH-beta-9; Protocadherin-3H", "protein_names_refseq": "PCDH-beta-9; protocadherin beta-9 precursor; protocadherin-3h", "tax_id": 9606, "disease": "", "pathway": " (hsa:56127)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "10380929;11237011;11322959;28671736;29741879;30324761;35390792", "class_list": "", "function": "A functional analysis showed that PCDHB9 modulated cell migration and adhesion., [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; Protocadherin B9 Is Associated with Human Esophageal Squamous Cell Carcinoma Progression., [RefSeq, PubMed]; Protocadherin B9 plays an important role in the progression rather than the pathogenesis of intestinal-type gastric cancers., [RefSeq, PubMed]; This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [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": 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": 40, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q2M2U8;Q496X9;Q9NRJ8", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0007155 cell adhesion;GO:0007268 chemical synaptic transmission;GO:0007416 synapse assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9Y5E1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRJ7-1", "uniprot_id": [ { "id": "PCDBG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRJ7", "type": "external" } ], "mass": 84936.0, "length": 776, "protein_name": "Protocadherin beta-16", "gene_name": "PCDHB16", "organism": "Human", "refseq_name": "protocadherin beta-16 precursor", "refseq_ac": [ { "id": "NP_066008", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066008", "type": "external" } ], "gene_names_uniprotkb": "PCDHB16; KIAA1621; PCDH3X", "gene_names_refseq": "ME1; PCDH-BETA16; PCDH3X; PCDHB16; PCDHB8a", "protein_names_uniprotkb": "Protocadherin beta-16; PCDH-beta-16; Protocadherin-3X", "protein_names_refseq": "cadherin ME1; protocadherin beta 8a; protocadherin beta-16 precursor; protocadherin-3x", "tax_id": 9606, "disease": "", "pathway": " (hsa:57717)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11230163;11237011;11322959;12665801;18507432;25418920;29741879;30620550", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 60, "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": "B3KPK5;Q8IYD5;Q96SE9;Q9HCF1", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0007155 cell adhesion;GO:0007268 chemical synaptic transmission;GO:0007416 synapse assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9NRJ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60925-1", "uniprot_id": [ { "id": "PFD1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60925", "type": "external" } ], "mass": 14210.0, "length": 122, "protein_name": "Prefoldin subunit 1", "gene_name": "PFDN1", "organism": "Human", "refseq_name": "prefoldin subunit 1", "refseq_ac": [ { "id": "NP_002613", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002613", "type": "external" } ], "gene_names_uniprotkb": "PFDN1; PFD1", "gene_names_refseq": "PDF; PFD1; PFDN1", "protein_names_uniprotkb": "Prefoldin subunit 1", "protein_names_refseq": "prefoldin 1; prefoldin subunit 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5201); (R-HSA-389957)", "pathway_count": 2, "publication_count": 67, "publication_id_list": "10.1101/2023.09.13.557529;11237011;23481700;24714562;24715725;25576301;25645385;25880248;26154972;26728094;26768311;26992070;27600516;27862975;28228285;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29786170;30315122;30429286;30833945;31154438;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33537174;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34405274;34509645;34561969;34932366;35051231;35217267;35318648;35494241;35513511;35580925;36010968;36215666;36241641;9630229", "class_list": "", "function": "Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins., [UniProtKB, UniProtKB, UniProtKB]; Prefoldin and prefoldin-like complex subunits as predictive biomarkers for hepatocellular carcinoma immunotherapy., [RefSeq, PubMed]; This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [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": 3, "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": "B2RD02;Q53F95;Q96EX6", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0001540 amyloid-beta binding;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016272 prefoldin complex", "go_biological_process": "GO:0050821 protein stabilization;GO:0006457 protein folding;GO:1905907 negative regulation of amyloid fibril formation", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "O60925-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "E2RYF7-1", "uniprot_id": [ { "id": "PBMU2_HUMAN", "url": "https://www.uniprot.org/uniprot/E2RYF7", "type": "external" } ], "mass": 26282.0, "length": 251, "protein_name": "Protein PBMUCL2", "gene_name": "HCG22", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "HCG22; G2; PBMUCL2", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein PBMUCL2; HLA complex group 22; Panbronchiolitis-related mucin-like protein 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "20981447;34087483", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "E2RYF7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43116-1", "uniprot_id": [ { "id": "PE2R2_HUMAN", "url": "https://www.uniprot.org/uniprot/P43116", "type": "external" } ], "mass": 39761.0, "length": 358, "protein_name": "Prostaglandin E2 receptor EP2 subtype", "gene_name": "PTGER2", "organism": "Human", "refseq_name": "prostaglandin E2 receptor EP2 subtype", "refseq_ac": [ { "id": "NP_000947", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000947", "type": "external" } ], "gene_names_uniprotkb": "PTGER2", "gene_names_refseq": "COX-2; EP2; PTGER2", "protein_names_uniprotkb": "Prostaglandin E2 receptor EP2 subtype; PGE receptor EP2 subtype; PGE2 receptor EP2 subtype; Prostanoid EP2 receptor", "protein_names_refseq": "PGE receptor EP2 subtype; PGE2 receptor EP2 subtype; prostaglandin E receptor 2 (subtype EP2), 53kDa; prostaglandin E receptor 2 (subtype EP2), 53kD; prostaglandin E2 receptor EP2 subtype; prostanoid EP2 receptor", "tax_id": 9606, "disease": "aspirin-induced respiratory disease (Disease Ontology:DOID:0080822); asthma, nasal polyps, and aspirin intolerance (Disease Ontology:DOID:0111579); heart disease (Disease Ontology:DOID:114); laryngeal squamous cell carcinoma (Disease Ontology:DOID:2876); chronic obstructive pulmonary disease (Disease Ontology:DOID:3083); lung squamous cell carcinoma (Disease Ontology:DOID:3907)", "pathway": " (hsa:5732); (R-HSA-391908); (R-HSA-418555)", "pathway_count": 3, "publication_count": 77, "publication_id_list": "10.1101/2023.09.13.557529;10036181;10521663;10634944;11007482;11237011;11740958;12036966;12058044;12106601;12180353;12222762;12466225;12519077;12860470;13549488;14671004;1517224;15464062;15765929;15769620;15951850;16313925;16687412;16923326;17168849;18044684;18577758;19105585;19876791;19929708;20381629;21036126;2163110;2171039;2417744;24687066;2491850;2553411;2553705;26417854;2871555;29443750;29493099;29602314;30833991;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;33049737;33109704;36241641;38345417;38639976;38753641;6085243;7532011;7642548;7883006;8078484;8117308;8163486;8253813;8300593;8340388;8514797;8672451;9263355;9417641;9462300;9651336", "class_list": "", "function": "Constitutive internalisation of EP2 differentially regulates G protein signalling. Publication Status: Online-Only, [RefSeq, PubMed]; Impact of Bone Morphogenetic Protein 7 and Prostaglandin receptors on osteoblast healing and organization of collagen. Publication Status: Online-Only, [RefSeq, PubMed]; Pharmacological evidence that the inhibitory effects of prostaglandin E2 are mediated by the EP2 and EP4 receptors in human neutrophils., [RefSeq, PubMed]; Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(s) proteins that stimulate adenylate cyclase. The subsequent raise in intracellular cAMP is responsible for the relaxing effect of this receptor on smooth muscle., [UniProtKB]; This gene encodes a receptor for prostaglandin E2, a metabolite of arachidonic acid which has different biologic activities in a wide range of tissues. Mutations in this gene are associated with aspirin-induced susceptibility to asthma. [provided by RefSeq, Oct 2009]., [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "D3DSC0;Q52LG8", "ec_number_list": [], "go_molecular_function": "GO:0004957 prostaglandin E receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0071380 cellular response to prostaglandin E stimulus", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "P43116-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00151-1", "uniprot_id": [ { "id": "PDLI1_HUMAN", "url": "https://www.uniprot.org/uniprot/O00151", "type": "external" } ], "mass": 36072.0, "length": 329, "protein_name": "PDZ and LIM domain protein 1", "gene_name": "PDLIM1", "organism": "Human", "refseq_name": "PDZ and LIM domain protein 1", "refseq_ac": [ { "id": "NP_066272", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066272", "type": "external" } ], "gene_names_uniprotkb": "PDLIM1; CLIM1; CLP36", "gene_names_refseq": "CLIM1; CLP-36; CLP36; HEL-S-112; PDLIM1; hCLIM1", "protein_names_uniprotkb": "PDZ and LIM domain protein 1; C-terminal LIM domain protein 1; Elfin; LIM domain protein CLP-36", "protein_names_refseq": "LIM domain protein CLP-36; PDZ and LIM domain protein 1; carboxyl terminal LIM domain protein 1; elfin; epididymis secretory protein Li 112", "tax_id": 9606, "disease": "congenital myasthenic syndrome 8 (Disease Ontology:DOID:0110657)", "pathway": " (hsa:9124)", "pathway_count": 1, "publication_count": 117, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10022510;10753915;10861853;11110697;12665801;15144186;15592455;16497976;17016520;17287340;17322306;17924679;18088087;18446792;18491316;18669648;19413330;19651622;19664994;19664995;20058876;20068231;21406692;23186163;23481700;23584533;24190977;24275569;24366607;24715725;25418920;25502872;25505266;25576301;25880248;25892735;26154972;26375851;26758079;26992070;27090790;27846572;27862975;27920218;28063628;28228285;28510447;28832583;28834231;28904123;29237092;29242379;29314611;29393594;29485866;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30059200;30315122;30429286;30524438;30620550;30626607;31092671;31154438;31217245;31373491;31492838;31530632;31611695;31844290;31848261;31998317;32157095;32265295;32350084;32357974;32502341;32574038;32897882;32938616;32983136;33214551;33298915;33592498;33717175;33912179;33968037;33981976;34019948;34229054;34561969;35051231;35132862;35251023;35254053;35318648;35513511;35580925;35705054;36010968;36215666;36284347;37340703;37930472;38665916;39531497;39534244;40307207;40596516", "class_list": "", "function": "CLP-36 contains a PDZ- and LIM domain, is widely expressed, interacts with actinin-1, actinin-2 and actinin-4, and localizes to actin stress fibers. The gene (7 exons) is localised to contig NT_008878.2 on chromosome 10., [RefSeq, PubMed]; Cytoskeletal protein that may act as an adapter that brings other proteins (like kinases) to the cytoskeleton (PubMed:10861853). Involved in assembly, disassembly and directioning of stress fibers in fibroblasts. Required for the localization of ACTN1 and PALLD to stress fibers. Required for cell migration and in maintaining cell polarity of fibroblasts (By similarity)., [UniProtKB, UniProtKB, PubMed]; Enigma protein shown to interact with alpha actinin 2 by yeast two-hybrid screening and immunochemistry (co-localization at myocardial Z-disks)., [RefSeq, PubMed]; PDLIM1 interacts with HK2 to promote gastric cancer progression through enhancing the Warburg effect via Wnt/beta-catenin signaling., [RefSeq, PubMed]; This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "B2RBS6;Q5VZH5;Q9BPZ9", "ec_number_list": [], "go_molecular_function": "GO:0051371 muscle alpha-actinin binding;GO:0003713 transcription coactivator activity;GO:0003779 actin binding;GO:0046872 metal ion binding;GO:0098641 cadherin binding involved in cell-cell adhesion", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005856 cytoskeleton;GO:0005912 adherens junction;GO:0005925 focal adhesion;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0007507 heart development;GO:0001666 response to hypoxia;GO:0030036 actin cytoskeleton organization;GO:0030950 establishment or maintenance of actin cytoskeleton polarity", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "O00151-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00443-1", "uniprot_id": [ { "id": "P3C2A_HUMAN", "url": "https://www.uniprot.org/uniprot/O00443", "type": "external" } ], "mass": 190680.0, "length": 1686, "protein_name": "Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha", "gene_name": "PIK3C2A", "organism": "Human", "refseq_name": "phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform 1", "refseq_ac": [ { "id": "NP_001308307", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308307", "type": "external" } ], "gene_names_uniprotkb": "PIK3C2A", "gene_names_refseq": "CPK; OCSKD; PI3-K-C2(ALPHA); PI3-K-C2A; PI3K-C2-alpha; PI3K-C2alpha; PIK3C2A", "protein_names_uniprotkb": "Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha; 2.7.1.137; 2.7.1.153; 2.7.1.154; PI3K-C2-alpha; Phosphoinositide 3-kinase-C2-alpha; PtdIns-3-kinase C2 subunit alpha", "protein_names_refseq": "C2-containing phosphatidylinositol kinase; phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform 1; phosphatidylinositol-4-phosphate 3-kinase C2 domain-containing subunit alpha; phosphoinositide 3-kinase-C2-alpha; phosphoinositide-3-kinase, class 2, alpha polypeptide; ptdIns-3-kinase C2 subunit alpha", "tax_id": 9606, "disease": "cataract (Disease Ontology:DOID:83); type 2 diabetes mellitus (Disease Ontology:DOID:9352); oculocerebrodental syndrome (MONDO:MONDO:0034145)", "pathway": " (hsa:5286); (R-HSA-1660499); (R-HSA-1660514); (R-HSA-1660516); (R-HSA-1660517); (R-HSA-432722); (R-HSA-8856828)", "pathway_count": 7, "publication_count": 323, "publication_id_list": "10101268;10194451;10224048;10394364;10419465;10535736;10542231;10555148;10559856;10559861;10559924;10559940;10567352;10593988;10625686;10753883;10764818;10766823;10805725;10806194;10822173;11001876;11082044;11084340;11231140;11237011;11239472;11279162;11302699;11349134;11470803;11516654;11517213;11532990;11577110;11590181;11604140;11604418;11606566;11676921;11694590;11706043;11716755;11733541;11877430;11877457;11877461;11889126;11923287;11994746;12057195;12101241;12118066;12213833;12270933;12324459;12422219;12447393;12536145;12646134;12719431;12808147;12847086;12847286;12890864;12952949;14516276;14527956;14555962;14563213;14581451;14617351;14617813;14622578;14622579;14659893;14660569;14722070;15080793;15102850;15107860;15135396;15252009;15260957;15318165;15339664;15464023;15502812;15502813;15649145;15703209;15716355;15797027;15802264;15840652;15895077;15916959;16103228;16154996;16155256;16215232;16326391;16399794;16410077;16476736;16516836;16522682;1655747;16707488;16787938;16798879;16880396;16903783;16914545;16979564;17008356;17018281;17035995;17038310;17116749;17158794;17245604;17371240;17494869;17512409;17540576;17555535;17556371;17609109;17651088;17681954;17762867;17765681;17978091;18093523;18388313;1847920;18524850;18669648;18691976;18753295;18767875;18790740;18950639;18981233;19007248;19038970;19092055;19211563;19287005;19296720;19369195;19458185;19536138;19575674;19603039;19664994;19664995;19668216;19690332;19691289;19696796;19713939;19776351;19809571;19896968;20033059;20059951;20068231;20211604;20231386;20428113;20448150;20534812;20826345;20946875;21081650;21127054;2115402;21187331;21204784;21278753;21316588;21406692;21445324;21482805;21499258;21613550;21779028;21841790;21883765;21927000;21927001;21962517;22037487;22099461;22233676;22484487;22505844;22647598;22815487;22863004;23186163;23297414;23519112;23536704;23758345;23818870;23823722;23861397;23891661;24130457;24186068;24275569;24581490;24715725;24789820;24966051;25107275;25303366;25341920;25418920;25495341;25576301;25645385;25869668;26042225;26375851;26403691;26496610;26811146;26992070;27397612;27846572;27862975;28514659;28657654;28832583;28904123;29242379;29351928;29493099;29557506;30379171;30429286;30484775;31034465;31217245;31492838;31844290;31913757;32157095;32265295;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33387369;33592498;33633747;33664344;33691108;33717175;33912179;33968037;34087483;34171305;34185709;34405274;34509645;34882480;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;36830671;37938771;6146630;7608176;7624799;7628435;7761412;7877694;8374173;8524399;8552632;8634694;8670264;8681945;8723348;8769125;8999962;9092476;9094719;9100026;9113989;9148941;9211928;9286278;9295334;9337861;9367159;9405935;9427626;9428629;9514948;9516481;9524259;9593664;9635431;9660759;9660833;9736607;9811831;9830063;9878262", "class_list": "", "function": "Class II phosphatidylinositol 3-kinase-C2alpha is essential for Notch signaling by regulating the endocytosis of gamma-secretase in endothelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers. Has a role in several intracellular trafficking events. Functions in insulin signaling and secretion. Required for translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane and glucose uptake in response to insulin-mediated RHOQ activation. Regulates insulin secretion through two different mechanisms: involved in glucose-induced insulin secretion downstream of insulin receptor in a pathway that involves AKT1 activation and TBC1D4/AS160 phosphorylation, and participates in the late step of insulin granule exocytosis probably in insulin granule fusion. Synthesizes PtdIns3P in response to insulin signaling. Functions in clathrin-coated endocytic vesicle formation and distribution. Regulates dynamin-independent endocytosis, probably by recruiting EEA1 to internalizing vesicles. In neurosecretory cells synthesizes PtdIns3P on large dense core vesicles. Participates in calcium induced contraction of vascular smooth muscle by regulating myosin light chain (MLC) phosphorylation through a mechanism involving Rho kinase-dependent phosphorylation of the MLCP-regulatory subunit MYPT1. May play a role in the EGF signaling cascade. May be involved in mitosis and UV-induced damage response. Required for maintenance of normal renal structure and function by supporting normal podocyte function. Involved in the regulation of ciliogenesis and trafficking of ciliary components (PubMed:31034465)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation., [RefSeq, PubMed]; TGFbeta receptor endocytosis and Smad signaling require synaptojanin1, PI3K-C2alpha-, and INPP4B-mediated phosphoinositide conversions., [RefSeq, PubMed]; The molecular mechanisms mediating class II PI 3-kinase function in cell physiology. Review article, [RefSeq, PubMed]; The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. The PI3-kinase activity of this protein is not sensitive to nanomolar levels of the inhibitor wortmanin. This protein was shown to be able to be activated by insulin and may be involved in integrin-dependent signaling. [provided by RefSeq, Jul 2008]., [RefSeq]; Various Expressions of PIK3C2A and TXNIP Genes and Their Potential Role as Independent Risk Factors for Chronic Stable Angina and Acute Coronary Syndrome. 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": 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": 11, "reported_mutagensis": 14, "reported_glycation": 0, "reported_snv": 55, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B0LPH2;B4E2G4;Q14CQ9", "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": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.4.17.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.22", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.3.86", "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": "2.7.1.151", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.151", "type": "external" }, { "id": "2.7.1.140", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.140", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0030276 clathrin binding;GO:0035091 phosphatidylinositol binding;GO:0016303 1-phosphatidylinositol-3-kinase activity;GO:0046934 1-phosphatidylinositol-4,5-bisphosphate 3-kinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process;GO:0006897 endocytosis;GO:0016477 cell migration;GO:0061024 membrane organization;GO:0007173 epidermal growth factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 33.2, "record_id": "O00443-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15018-1", "uniprot_id": [ { "id": "PDZD2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15018", "type": "external" } ], "mass": 301641.0, "length": 2839, "protein_name": "PDZ domain-containing protein 2", "gene_name": "PDZD2", "organism": "Human", "refseq_name": "PDZ domain-containing protein 2", "refseq_ac": [ { "id": "NP_835260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_835260", "type": "external" } ], "gene_names_uniprotkb": "PDZD2; AIPC; KIAA0300; PDZK3", "gene_names_refseq": "AIPC; PAPIN; PDZD2; PDZK3", "protein_names_uniprotkb": "PDZ domain-containing protein 2; Activated in prostate cancer protein; PDZ domain-containing protein 3", "protein_names_refseq": "PDZ domain-containing protein 2; PDZ domain-containing protein 3; activated in prostate cancer protein; plakophilin-related armadillo repeat protein-interactive PDZ protein", "tax_id": 9606, "disease": "inflammatory bowel disease (Disease Ontology:DOID:0050589)", "pathway": " (hsa:23037)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11289102;12671685;24827138;25576301;25645385;26918600;28228285;28657654;29508533;29557506;29769354;29786170;30379171;30429286;30896877;31217245;31844290;32157095;32387766;32938616;33392160;33592498;33968037;34171305;35051231;35254053;35580925;37074911;37938771;40136647", "class_list": "", "function": "Study results revealed that MG-63 osteosarcoma cells contained low levels of miR-363, and that overexpression of miR-363 in MG-63 cells significantly inhibited the vitality, proliferation, and colony formation ability of the cells. Bioinformatics analysis and luciferase reporter assay indicated that PDZD2 was a direct target of miR-363. In vivo xenograft model further confirmed that miR-363 functioned as tumor suppressor., [RefSeq, PubMed]; The DNA copy number variations disrupt PDZD2 and GOLPH3 genes predominantly expressed in placenta, and it may represent a novel risk factor for recurrent miscarriage., [RefSeq, PubMed]; The first reported multi-PDZ protein that is processed by proteolytic cleavage to generate a secreted peptide containing two PDZ domains, [RefSeq, PubMed]; The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015]., [RefSeq]; We systematically evaluating RCC risk-associated SNPs indentified from previous GWAS in a Chinese population, finding that one SNP located in PDZD2 and two SNPs located in ITPR2 were ccRCC-risk associated in 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": 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 93, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q9BXD4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "O15018-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60245-1", "uniprot_id": [ { "id": "PCDH7_HUMAN", "url": "https://www.uniprot.org/uniprot/O60245", "type": "external" } ], "mass": 116071.0, "length": 1069, "protein_name": "Protocadherin-7", "gene_name": "PCDH7", "organism": "Human", "refseq_name": "protocadherin-7 isoform a precursor", "refseq_ac": [ { "id": "NP_002580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002580", "type": "external" } ], "gene_names_uniprotkb": "PCDH7; BHPCDH", "gene_names_refseq": "BH-Pcdh; BHPCDH; PCDH7; PPP1R120", "protein_names_uniprotkb": "Protocadherin-7; BH-Pcdh; Brain-heart protocadherin", "protein_names_refseq": "BH-protocadherin (brain-heart); brain-heart protocadherin; protein phosphatase 1, regulatory subunit 120; protocadherin-7 isoform a precursor", "tax_id": 9606, "disease": "prostate cancer (Disease Ontology:DOID:10283); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:5099); (R-HSA-114608); (R-HSA-8980692); (R-HSA-9013026)", "pathway_count": 4, "publication_count": 196, "publication_id_list": "10.1101/2023.09.13.557529;10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12473120;12531887;12650940;12857875;12877655;1435334;14512443;14630798;15023524;15064355;15107133;15297306;15302923;15302935;15342493;15485661;15601624;15611138;15850391;15866170;15944396;16112081;16116428;16184169;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;17077126;17081983;17198702;17322306;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18669648;18802007;18829452;19413330;19494238;19605563;19635168;19651622;19664994;19673492;19713215;20030946;20068231;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21373644;21454492;21565175;21699497;21865595;21936715;22096251;22298643;22305756;22673745;22911862;22992742;23090970;23186163;23200924;23255595;23434736;23572525;23640497;23870313;24086303;24128008;24190977;24259668;24335996;24352656;24933155;25211221;25673874;25704760;26371245;26529257;26887924;26992070;27145964;27216196;27481945;27821484;27986909;28112683;28196833;28381163;28584191;29146911;29314611;29557506;30409919;31105010;31871319;31872382;32203420;33141586;33592498;33968037;34087483;34171305;35051231;35289036;35318648;35926236;6457647;7479768;7673236;7721814;7753201;8021274;8467233;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9305890;9418861;9490638;9497316;9535835;9548756;9615233;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "Authors demonstrated that enforced PCDH7 expression significantly accelerates Kras(G12D) -driven lung tumorigenesis and potentiates MAPK pathway activation., [RefSeq, PubMed]; Effect of aberrantly methylated androgen receptor target gene PCDH7 on the development of androgen-independent prostate cancer cells., [RefSeq, PubMed]; PCDH7 knockdown potentiates colon cancer cells to chemotherapy via inducing ferroptosis and changes in autophagy through restraining MEK1/2/ERK/c-Fos axis., [RefSeq, PubMed]; Protocadherin 7 may play important roles in the invasion and metastasis of gastric cancer., [RefSeq, PubMed]; This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]., [RefSeq]; We report that the PROTOCADHERIN PCDH7 is overexpressed frequently in Non-small cell lung cancer tumors where this event is associated with poor clinical outcome, [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": 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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 2, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "O60246;O60247;Q4W5C4", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0030054 cell junction;GO:0031092 platelet alpha granule membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 20.4, "record_id": "O60245-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07205-1", "uniprot_id": [ { "id": "PGK2_HUMAN", "url": "https://www.uniprot.org/uniprot/P07205", "type": "external" } ], "mass": 44796.0, "length": 417, "protein_name": "Phosphoglycerate kinase 2", "gene_name": "PGK2", "organism": "Human", "refseq_name": "phosphoglycerate kinase 2", "refseq_ac": [ { "id": "NP_620061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620061", "type": "external" } ], "gene_names_uniprotkb": "PGK2; PGKB", "gene_names_refseq": "HEL-S-272; PGK2; PGKB; PGKPS; dJ417L20.2", "protein_names_uniprotkb": "Phosphoglycerate kinase 2; 2.7.2.3; Phosphoglycerate kinase, testis specific", "protein_names_refseq": "epididymis secretory protein Li 272; phosphoglycerate kinase 2; phosphoglycerate kinase autosomal pseudogene; phosphoglycerate kinase, testis specific; testicular tissue protein Li 139", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:5232); (R-HSA-70171); (R-HSA-70263)", "pathway_count": 3, "publication_count": 91, "publication_id_list": "10229653;10714828;11371164;11506403;11780755;11851336;12093795;12437512;12616532;1278465;12965206;12965222;13538944;14718531;14722102;15710582;16408927;16511037;17804405;18337460;183598;18449899;18613815;1871135;18910716;18910717;18927083;19118303;20068231;21949678;22219026;23168256;23446454;23506893;2462567;25648650;26374642;26677959;2793178;2846554;2960695;30517626;30573663;30972801;31154438;3170585;31848261;31998317;3208766;32387766;33507524;3355497;3453121;34782236;35051231;3529090;38665916;39894887;39990658;4413246;4555506;4827367;5009693;5687724;6434534;6444721;6451249;6696436;6771269;7144574;7150652;7391027;7573034;7717389;7825568;7989588;8117307;8211187;8325892;8447317;8571957;8645161;8786021;9382095;9428641;9438414;9493266;9585002;9657976;9678974;9758626", "class_list": "", "function": "Catalyzes the reversible conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate and plays a role in glycolysis and gluconeogenesis (By similarity). Essential for sperm motility and male fertility (PubMed:26677959). Not required for the completion of spermatogenesis (By similarity)., [UniProtKB, PubMed, UniProtKB]; Study of (Co-IP) and reverse co-immunoprecipitation (Co-IP) of CBP86-IV (TSCBP86-IV or CABYR) in human sperm cell lysate identified phosphoglycerate kinase 2 (PGK2) as interacting partner of CABYR. Protein interactions were further confirmed by yeast two-hybrid system., [RefSeq, PubMed]; The Germ Cell-Specific Markers ZPBP2 and PGK2 in Testicular Biopsies Can Predict the Presence as well as the Quality of Sperm in Non-obstructive Azoospermia Patients., [RefSeq, PubMed]; This gene is intronless, arose via retrotransposition of the phosphoglycerate kinase 1 gene, and is expressed specifically in the testis. Initially assumed to be a pseudogene, the encoded protein is actually a functional phosphoglycerate kinase that catalyzes the reversible conversion of 1,3-bisphosphoglycerate to 3-phosphoglycerate, during the Embden-Meyerhof-Parnas pathway of glycolysis, in the later stages of spermatogenesis.[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": 5, "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": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R6Y8;Q9H107", "ec_number_list": [ { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "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:0004618 phosphoglycerate kinase activity;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0043531 ADP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:0035686 sperm fibrous sheath", "go_biological_process": "GO:0006094 gluconeogenesis;GO:0016310 phosphorylation;GO:0006096 glycolytic process;GO:0061621 canonical glycolysis", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "P07205-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09131-1", "uniprot_id": [ { "id": "P3_HUMAN", "url": "https://www.uniprot.org/uniprot/P09131", "type": "external" } ], "mass": 50333.0, "length": 477, "protein_name": "P3 protein", "gene_name": "SLC10A3", "organism": "Human", "refseq_name": "P3 protein isoform 2 precursor", "refseq_ac": [ { "id": "NP_001135863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135863", "type": "external" } ], "gene_names_uniprotkb": "SLC10A3; DXS253E; P3", "gene_names_refseq": "DXS253E; P3; SLC10A3", "protein_names_uniprotkb": "P3 protein; Solute carrier family 10 member 3", "protein_names_refseq": "P3 protein isoform 2 precursor; Protein P3; solute carrier family 10 (sodium/bile acid cotransporter family), member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:8273)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11237011;23481700;24715725;28228285;28514659;28834231;28904123;29242379;29557506;29786170;30315122;31154438;31844290;31848261;3186440;32350084;32357974;32387766;32488085;32502341;33592498;33936100;34357683;36215666;8733135", "class_list": "", "function": "The ubiquitous expression and the conservation of the sequence in distant animal species suggest that the gene codes for a protein with housekeeping functions., [UniProtKB, UniProtKB, UniProtKB]; This gene maps to a GC-rich region of the X chromosome and was identified by its proximity to a CpG island. It is thought to be a housekeeping gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 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": 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": "Q5HY79;Q9BSL2", "ec_number_list": [], "go_molecular_function": "GO:0008508 bile acid:sodium symporter activity;GO:0015293 symporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0015721 bile acid and bile salt transport", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "P09131-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23219-1", "uniprot_id": [ { "id": "PGH1_HUMAN", "url": "https://www.uniprot.org/uniprot/P23219", "type": "external" } ], "mass": 68686.0, "length": 599, "protein_name": "Prostaglandin G/H synthase 1", "gene_name": "PTGS1", "organism": "Human", "refseq_name": "prostaglandin G/H synthase 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000953", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000953", "type": "external" } ], "gene_names_uniprotkb": "PTGS1; COX1", "gene_names_refseq": "COX1; COX3; PCOX1; PES-1; PGG/HS; PGHS-1; PGHS1; PHS1; PTGHS; PTGS1", "protein_names_uniprotkb": "Prostaglandin G/H synthase 1; 1.14.99.1; COX-1; Cyclooxygenase-1; PGH synthase 1; PGHS-1; PHS 1; Prostaglandin H2 synthase 1; Prostaglandin-endoperoxide synthase 1", "protein_names_refseq": "PGH synthase 1; cyclooxygenase-1; prostaglandin G/H synthase 1 isoform 1 precursor; prostaglandin H2 synthase 1; prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)", "tax_id": 9606, "disease": "salivary gland carcinoma (Disease Ontology:DOID:0050904); polycystic kidney disease (Disease Ontology:DOID:0080322); pre-eclampsia (Disease Ontology:DOID:10591); Alzheimer's disease (Disease Ontology:DOID:10652); Creutzfeldt-Jakob disease (Disease Ontology:DOID:11949); hepatic encephalopathy (Disease Ontology:DOID:13413); renovascular hypertension (Disease Ontology:DOID:1591); breast cancer (Disease Ontology:DOID:1612); glaucoma (Disease Ontology:DOID:1686); brain ischemia (Disease Ontology:DOID:2316); ovarian cancer (Disease Ontology:DOID:2394); endometrial carcinoma (Disease Ontology:DOID:2871); cervix carcinoma (Disease Ontology:DOID:2893); glioblastoma (Disease Ontology:DOID:3068); gliosarcoma (Disease Ontology:DOID:3071); bipolar disorder (Disease Ontology:DOID:3312); renal cell carcinoma (Disease Ontology:DOID:4450); esophagus adenocarcinoma (Disease Ontology:DOID:4914); ulcerative colitis (Disease Ontology:DOID:8577)", "pathway": " (hsa:5742); (R-HSA-140180); (R-HSA-2162123)", "pathway_count": 3, "publication_count": 88, "publication_id_list": "10377455;10622721;10922363;10966456;11237011;11297515;11465543;11672424;12192304;12242329;12627223;12835322;1380156;14979715;15047184;15115769;15308583;1587858;16141368;16475787;16828555;1734857;17449869;17641676;18006499;18493841;18682561;18991276;19000823;1907252;20036328;20667974;20950588;21351261;21467029;21976545;24190977;24605250;24715725;2512924;25576301;26154972;26375851;26992070;27543614;27846572;27862975;28832583;29393594;29557506;29632046;29741879;29786170;30833945;31154438;31844290;31848261;32157095;32357974;32387766;32983136;33298915;33968037;34932366;35051231;35251023;35580925;36241641;37074911;37938771;3862115;38665916;38728491;3954355;4514999;4521806;4776443;5284360;7005231;7552725;7925341;7947975;8121489;8175750;8901870;9139685;9219313;9626023", "class_list": "", "function": "Cloning, expression, and functional characterization of COX1 splicing variants were performed; there is evidence for intron retention., [RefSeq, PubMed]; Cloning, structure and expression of the COX-3 isozyme, [RefSeq, PubMed]; Dual cyclooxygenase and peroxidase that plays an important role in the biosynthesis pathway of prostanoids, a class of C20 oxylipins mainly derived from arachidonate ((5Z,8Z,11Z,14Z)-eicosatetraenoate, AA, C20:4(n-6)), with a particular role in the inflammatory response. The cyclooxygenase activity oxygenates AA to the hydroperoxy endoperoxide prostaglandin G2 (PGG2), and the peroxidase activity reduces PGG2 to the hydroxy endoperoxide prostaglandin H2 (PGH2), the precursor of all 2-series prostaglandins and thromboxanes. This complex transformation is initiated by abstraction of hydrogen at carbon 13 (with S-stereochemistry), followed by insertion of molecular O2 to form the endoperoxide bridge between carbon 9 and 11 that defines prostaglandins. The insertion of a second molecule of O2 (bis-oxygenase activity) yields a hydroperoxy group in PGG2 that is then reduced to PGH2 by two electrons (PubMed:7947975). Involved in the constitutive production of prostanoids in particular in the stomach and platelets. In gastric epithelial cells, it is a key step in the generation of prostaglandins, such as prostaglandin E2 (PGE2), which plays an important role in cytoprotection. In platelets, it is involved in the generation of thromboxane A2 (TXA2), which promotes platelet activation and aggregation, vasoconstriction and proliferation of vascular smooth muscle cells (Probable). Can also use linoleate (LA, (9Z,12Z)-octadecadienoate, C18:2(n-6)) as substrate and produce hydroxyoctadecadienoates (HODEs) in a regio- and stereospecific manner, being (9R)-HODE ((9R)-hydroxy-(10E,12Z)-octadecadienoate) and (13S)-HODE ((13S)-hydroxy-(9Z,11E)-octadecadienoate) its major products (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Effect of PEAR1, PTGS1 gene polymorphisms on the recurrence of aspirin-treated patients with ischemic stroke in the Han population of China: A 4-year follow-up study., [RefSeq, PubMed]; Prostaglandin G/H synthase is a moonlighting protein that functions both as a peroxidase as well as a cyclooxygenase., [RefSeq, PubMed]; This is one of two genes encoding similar enzymes that catalyze the conversion of arachidonate to prostaglandin. The encoded protein regulates angiogenesis in endothelial cells, and is inhibited by nonsteroidal anti-inflammatory drugs such as aspirin. Based on its ability to function as both a cyclooxygenase and as a peroxidase, the encoded protein has been identified as a moonlighting protein. The protein may promote cell proliferation during tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2021]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 1, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 19, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K1V7;B4DHQ2;B4E2S5;Q15122;Q3HY28;Q3HY29;Q5T7T6;Q5T7T7;Q5T7T8", "ec_number_list": [ { "id": "1.14.99.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.1", "type": "external" } ], "go_molecular_function": "GO:0004666 prostaglandin-endoperoxide synthase activity;GO:0046872 metal ion binding;GO:0020037 heme binding;GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen;GO:0004601 peroxidase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005788 endoplasmic reticulum lumen;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0008217 regulation of blood pressure;GO:0019371 cyclooxygenase pathway;GO:0001516 prostaglandin biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 9.9, "record_id": "P23219-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P34995-1", "uniprot_id": [ { "id": "PE2R1_HUMAN", "url": "https://www.uniprot.org/uniprot/P34995", "type": "external" } ], "mass": 41801.0, "length": 402, "protein_name": "Prostaglandin E2 receptor EP1 subtype", "gene_name": "PTGER1", "organism": "Human", "refseq_name": "prostaglandin E2 receptor EP1 subtype", "refseq_ac": [ { "id": "NP_000946", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000946", "type": "external" } ], "gene_names_uniprotkb": "PTGER1", "gene_names_refseq": "EP1; PTGER1", "protein_names_uniprotkb": "Prostaglandin E2 receptor EP1 subtype; PGE receptor EP1 subtype; PGE2 receptor EP1 subtype; Prostanoid EP1 receptor", "protein_names_refseq": "PGE receptor, EP1 subtype; PGE2 receptor EP1 subtype; prostaglandin E receptor 1 (subtype EP1), 42kDa; prostaglandin E receptor 1 (subtype EP1), 42kD; prostaglandin E receptor 1, subtype EP1; prostaglandin E2 receptor EP1 subtype; prostanoid EP1 receptor", "tax_id": 9606, "disease": "gastric ulcer (Disease Ontology:DOID:10808)", "pathway": " (hsa:5731); (R-HSA-391908); (R-HSA-416476)", "pathway_count": 3, "publication_count": 55, "publication_id_list": "10036181;10191087;10567430;10634944;10727532;10861009;11015615;1160156;11740958;11742120;11753430;12120503;12222762;12466225;12519077;15464062;15951850;16182515;16268778;16339447;16754659;16923326;18434541;18515384;18577758;18936096;1905813;2171039;24715725;27818595;2841328;28832583;29134301;29242379;30429286;3086311;31154438;31217245;32983136;34822808;35051231;38753641;7532011;7642548;7883006;7937899;8078484;8117308;8163486;8253813;8300593;8664309;9305846;9462300;9770463", "class_list": "", "function": "COX-2 expression appears to be linked to early hepatocellular carcinoma events (initiation), while EP1 receptor expression may participate in tumor progression and predict survival, [RefSeq, PubMed]; Functional analysis of the mouse counterpart., [RefSeq, PubMed]; Impact of Bone Morphogenetic Protein 7 and Prostaglandin receptors on osteoblast healing and organization of collagen. Publication Status: Online-Only, [RefSeq, PubMed]; No significant differences in EP1 intensity were detected for histological, stage, grading, metastatic and recurrent subtypes in endometrial cancer., [RefSeq, PubMed]; Prostaglandin E2 EP receptors in cardiovascular disease: An update. Review article, [RefSeq, PubMed]; Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues., [UniProtKB]; The protein encoded by this gene is a member of the G protein-coupled receptor family. This protein is one of four receptors identified for prostaglandin E2 (PGE2). Through a phosphatidylinositol-calcium second messenger system, G-Q proteins mediate this receptor's activity. Knockout studies in mice suggested a role of this receptor in mediating algesia and in regulation of blood pressure. Studies in mice also suggested that this gene may mediate adrenocorticotropic hormone response to bacterial endotoxin. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5U5U4;Q86UH3;Q86VB5;Q8NHB2", "ec_number_list": [], "go_molecular_function": "GO:0031748 D1 dopamine receptor binding;GO:0004957 prostaglandin E receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0070256 negative regulation of mucus secretion", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "P34995-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36871-1", "uniprot_id": [ { "id": "PGM1_HUMAN", "url": "https://www.uniprot.org/uniprot/P36871", "type": "external" } ], "mass": 61449.0, "length": 562, "protein_name": "Phosphoglucomutase-1", "gene_name": "PGM1", "organism": "Human", "refseq_name": "phosphoglucomutase-1 isoform 2", "refseq_ac": [ { "id": "NP_001166289", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166289", "type": "external" } ], "gene_names_uniprotkb": "PGM1", "gene_names_refseq": "CDG1T; GSD14; PGM1", "protein_names_uniprotkb": "Phosphoglucomutase-1; 5.4.2.2; Glucose phosphomutase 1; PGM 1", "protein_names_refseq": "PGM 1; glucose phosphomutase 1; phosphoglucomutase-1 isoform 2", "tax_id": 9606, "disease": "congenital disorder of deglycosylation 1 (Disease Ontology:DOID:0060728); congenital disorder of glycosylation It (Disease Ontology:DOID:0080570); endometrial cancer (Disease Ontology:DOID:1380); teratoma (Disease Ontology:DOID:3307)", "pathway": " (hsa:5236); (R-HSA-3322077); (R-HSA-5609974); (R-HSA-6798695); (R-HSA-70221); (R-HSA-70370)", "pathway_count": 6, "publication_count": 130, "publication_id_list": "10487978;10801319;10949035;11237011;12604216;12753898;12825073;12930917;13115432;15026423;15118078;15175331;1530890;15378030;15930137;16408927;17081983;17924679;18040046;18070875;18212344;18323634;18452278;18510355;18669648;18767875;1897530;19415658;19608861;19625727;19651622;19690332;19699667;20058876;20068231;2011574;20166139;20357282;20538597;21356517;21406692;21767668;22248338;22492991;22976764;23650620;23663739;24275569;24499211;25288802;25416783;25538239;25544560;25576301;25645385;26216881;26374642;2667896;26768311;26972339;26992070;27397612;27600516;27862975;28218747;28228285;28411811;28832583;28834231;28855257;29242379;29314611;29437277;29557506;2961257;30315122;30379171;30429286;30484775;3049072;30524438;30779550;31092671;31217245;31844290;32157095;32161166;32221390;32350084;32357974;32897882;32898648;32938616;33298915;33342467;33592498;33691108;33717175;33968037;34171305;34357683;34725712;35051231;35506765;35580925;36010968;36215666;36947965;38665916;40596516;4829444;5264799;5348606;5427280;5461220;7542884;7847371;7851421;7902567;7902568;8257433;8420990;8613547;8631325;8692836;8755644;8896567;9346895;9504428;9691087", "class_list": "glycogene", "function": "Catalyzes the reversible isomerization of alpha-D-glucose 1-phosphate to alpha-D-glucose 6-phosphate (PubMed:15378030, PubMed:25288802). The mechanism proceeds via the intermediate compound alpha-D-glucose 1,6-bisphosphate (Probable) (PubMed:25288802). This enzyme participates in both the breakdown and synthesis of glucose (PubMed:17924679, PubMed:25288802)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Effects of the T337M and G391V disease-related variants on human phosphoglucomutase 1: structural disruptions large and small., [RefSeq, PubMed]; Enzyme dysfunction at atomic resolution: Disease-associated variants of human phosphoglucomutase-1. Review article, [RefSeq, PubMed]; Knock-down of PGM1 inhibits cell viability, glycolysis, and oxidative phosphorylation in glioma under low glucose condition via the Myc signaling pathway., [RefSeq, PubMed]; Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots., [RefSeq, PubMed]; Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the alpha-D-phosphohexomutase superfamily. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is an isozyme of phosphoglucomutase (PGM) and belongs to the phosphohexose mutase family. There are several PGM isozymes, which are encoded by different genes and catalyze the transfer of phosphate between the 1 and 6 positions of glucose. In most cell types, this PGM isozyme is predominant, representing about 90% of total PGM activity. In red cells, PGM2 is a major isozyme. This gene is highly polymorphic. Mutations in this gene cause glycogen storage disease type 14. Alternativley spliced transcript variants encoding different isoforms have been identified in 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": 20, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 769, "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": "B2R5N9;B4DPV0;Q16105;Q16106;Q5BKZ9;Q6NW22;Q86U74;Q96J40;Q9NTY4", "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": "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": "3.5.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.23", "type": "external" }, { "id": "3.5.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.-", "type": "external" }, { "id": "3.5.1.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.109", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.5", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.4.19.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.9", "type": "external" }, { "id": "5.4.2.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.2.7", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "2.1.1.348", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.348", "type": "external" }, { "id": "2.1.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.9", "type": "external" }, { "id": "3.5.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.3", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.4.18.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.18.1", "type": "external" }, { "id": "4.1.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.2.4", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0004614 phosphoglucomutase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0070062 extracellular exosome;GO:1904813 ficolin-1-rich granule lumen", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0006094 gluconeogenesis;GO:0006006 glucose metabolic process;GO:0006096 glycolytic process;GO:0033499 galactose catabolic process via UDP-galactose, Leloir pathway", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "P36871-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07343-1", "uniprot_id": [ { "id": "PDE4B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07343", "type": "external" } ], "mass": 83343.0, "length": 736, "protein_name": "3',5'-cyclic-AMP phosphodiesterase 4B", "gene_name": "PDE4B", "organism": "Human", "refseq_name": "3',5'-cyclic-AMP phosphodiesterase 4B isoform 2", "refseq_ac": [ { "id": "NP_001032416", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032416", "type": "external" } ], "gene_names_uniprotkb": "PDE4B; DPDE4", "gene_names_refseq": "DPDE4; PDE4B; PDEIVB", "protein_names_uniprotkb": "3',5'-cyclic-AMP phosphodiesterase 4B; 3.1.4.53; DPDE4; PDE32; cAMP-specific phosphodiesterase 4B", "protein_names_refseq": "3',5'-cyclic-AMP phosphodiesterase 4B isoform 2; 3',5'-cyclic-AMP phosphodiesterase 4B; cAMP-specific 3',5'-cyclic phosphodiesterase 4B; cAMP-specific phosphodiesterase 4B; dunce-like phosphodiesterase E4; phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:5142)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "10.1101/2023.09.13.557529;10846163;11237011;12441002;15003452;15260978;15345747;15576036;15685167;17519386;17727341;18539455;19415658;24714562;25576301;25645385;25892735;26992070;27600516;27846572;28228285;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29786170;30315122;30379171;30833945;31154438;31844290;32157095;32357974;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33912179;33968037;33981976;34171305;34932366;35051231;35318648;35580925;36010968;36241641;37217939;39126032;8384210;8392015;8413254;9371714", "class_list": "", "function": "A super-short, brain specific isoform of human PDE4B, PDE4B5, was identified. It has cAMP hydrolyzing activity and is inhibited by PDE4 inhibitors. PDE4B5 bind to DISC1. The 16 N-terminal residues are identical to the corresponding residues of PDE4D6., [RefSeq, PubMed]; Anti-Inflammatory Effects of miR-369-3p via PDE4B in Intestinal Inflammatory Response. Publication Status: Online-Only, [RefSeq, PubMed]; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes (PubMed:15260978). May be involved in mediating central nervous system effects of therapeutic agents ranging from antidepressants to antiasthmatic and anti-inflammatory agents., [UniProtKB, PubMed, PubMed, PubMed]; This gene is a member of the type IV, cyclic AMP (cAMP)-specific, cyclic nucleotide phosphodiesterase (PDE) family. The encoded protein regulates the cellular concentrations of cyclic nucleotides and thereby play a role in signal transduction. Altered activity of this protein has been associated with schizophrenia and bipolar affective disorder. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding different 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": 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": 8, "reported_mutagensis": 4, "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": "A5YW33;O15443;Q13945;Q5TEK4;Q5TEK5;Q5TEK6", "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:0046872 metal ion binding;GO:0005246 calcium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0043015 gamma-tubulin binding;GO:0030552 cAMP binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0014069 postsynaptic density;GO:0043197 dendritic spine;GO:0030018 Z disc", "go_biological_process": "GO:1901898 negative regulation of relaxation of cardiac muscle;GO:0050852 T cell receptor signaling pathway;GO:0071466 cellular response to xenobiotic stimulus;GO:0071222 cellular response to lipopolysaccharide;GO:0071878 negative regulation of adenylate cyclase-activating adrenergic receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q07343-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13113-1", "uniprot_id": [ { "id": "PDZ1I_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13113", "type": "external" } ], "mass": 12227.0, "length": 114, "protein_name": "PDZK1-interacting protein 1", "gene_name": "PDZK1IP1", "organism": "Human", "refseq_name": "PDZK1-interacting protein 1 precursor", "refseq_ac": [ { "id": "NP_005755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005755", "type": "external" } ], "gene_names_uniprotkb": "PDZK1IP1; MAP17", "gene_names_refseq": "DD96; MAP17; PDZK1IP1; SPAP", "protein_names_uniprotkb": "PDZK1-interacting protein 1; 17 kDa membrane-associated protein; Protein DD96", "protein_names_refseq": "17 kDa membrane-associated protein; PDZK1-interacting protein 1 precursor; epithelial protein up-regulated in carcinoma, membrane associated protein 17; membrane-associated protein 17", "tax_id": 9606, "disease": "", "pathway": " (hsa:10158)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "29557506;30779550;31154438;31844290;33537174;34185709;34880493;35580925;35727731;36215666;36737832;37217492;38057552;8701988;9461128;9815914", "class_list": "", "function": "Auxiliary protein of electrogenic Na(+)-coupled sugar symporter SLC5A2/SGLT2 and SLC5A1/SGLT1 (PubMed:34880493, PubMed:37217492, PubMed:38057552). Essential for the transporter activity of SLC5A2/SGLT2 but not SLC5A1/SGLT1 (PubMed:37217492)., [UniProtKB, PubMed, PubMed, PubMed]; MiR-455-5p suppresses PDZK1IP1 to promote the motility of oral squamous cell carcinoma and accelerate clinical cancer invasion by regulating partial epithelial-to-mesenchymal transition. Publication Status: Online-Only, [RefSeq, PubMed]; PDZK1 Interacting Protein 1 Promotes the Progression of Papillary Thyroid Cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6ICT9;Q96EI1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0098708 D-glucose import across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q13113-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13219-1", "uniprot_id": [ { "id": "PAPP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13219", "type": "external" } ], "mass": 180973.0, "length": 1627, "protein_name": "Pappalysin-1", "gene_name": "PAPPA", "organism": "Human", "refseq_name": "pappalysin-1 preproprotein", "refseq_ac": [ { "id": "NP_002572", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002572", "type": "external" } ], "gene_names_uniprotkb": "PAPPA", "gene_names_refseq": "ASBABP2; DIPLA1; IGFBP-4ase; PAPA; PAPP-A; PAPPA1; PAPPA", "protein_names_uniprotkb": "Pappalysin-1; 3.4.24.79; IGF-dependent IGFBP-4 protease; IGFBP-4ase; Insulin-like growth factor-dependent IGF-binding protein 4 protease; PAPP-A; Pregnancy-associated plasma protein A", "protein_names_refseq": "IGF-dependent IGFBP-4 protease; aspecific BCL2 ARE-binding protein 2; differentially placenta 1 expressed protein; insulin-like growth factor-dependent IGF binding protein-4 protease; pappalysin-1 preproprotein; pregnancy-associated plasma protein A, pappalysin 1", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763); arteriosclerosis (Disease Ontology:DOID:2349); coronary artery disease (Disease Ontology:DOID:3393); carotid artery disease (Disease Ontology:DOID:3407); myocardial infarction (Disease Ontology:DOID:5844); degenerative disc disease (Disease Ontology:DOID:90); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:5069); (R-HSA-381426)", "pathway_count": 2, "publication_count": 96, "publication_id_list": "10.1101/2023.09.13.557529;10026136;10077652;10218588;10491647;10512690;10614670;10681634;10810289;10898936;10912521;10913121;10951195;10990447;11158056;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;11822024;12241545;12379487;12421832;12466191;12810533;12904166;1370451;1383255;15126567;15308688;15469690;15485880;15525596;15642270;17047378;17249697;17312271;17985932;24715725;2476804;2479552;26091039;26992070;27600516;28344885;28904123;29557506;29741879;30429286;31844290;32157095;32502341;32938616;33592498;33968037;34171305;35051231;35494241;35580925;36241641;37074911;37916365;37938771;38082246;38780059;39109165;39244846;7508748;7519608;7523391;7525263;7525634;7525824;7526035;7527330;7538844;7539791;7543116;7588299;7683646;7685339;7689487;8620868;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Correlation between PAPP-A serum levels in the first trimester of pregnancy with the occurrence of gestational diabetes, a multicenter cohort study. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated first-trimester PAPP-A is a marker in high-risk pregnancies with an increased risk of placenta accreta in predicting adverse outcomes., [RefSeq, PubMed]; Metalloproteinase which specifically cleaves IGFBP-4 and IGFBP-5, resulting in release of bound IGF. Cleavage of IGFBP-4 is dramatically enhanced by the presence of IGF, whereas cleavage of IGFBP-5 is slightly inhibited by the presence of IGF., [UniProtKB, PubMed, PubMed, PubMed]; Serum hydroxysteroid (17beta) dehydrogenase 1 concentration in pregnant women correlates with pregnancy-associated plasma protein A but does not serve as an independent marker for preeclampsiadagger., [RefSeq, PubMed]; Specific cleavage of IGFBP-4 by papp-a in nervous tissue., [RefSeq, PubMed]; TGFbeta1, SNAIL2, and PAPP-A Expression in Placenta of Gestational Diabetes Mellitus Patients. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). Following IGFBP cleavage, insulin growth factors dissociate from IGFBPs and bind to IGF receptors, resulting in activation of the IGF pathway. The encoded protein plays a role in bone formation, inflammation, wound healing and female fertility. Enhanced expression of this protein is associated with diabetic nephropathy in human patients and this protein may promote tumor invasion and growth in various human cancers. [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": 15, "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": 15, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 15, "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": 100, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 11, "disease_count": 7, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "B1AMF9;Q08371;Q68G52;Q9UDK7", "ec_number_list": [ { "id": "3.4.24.79", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.79", "type": "external" }, { "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:0008237 metallopeptidase activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0006508 proteolysis;GO:0007166 cell surface receptor signaling pathway;GO:0007565 female pregnancy", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "Q13219-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13370-1", "uniprot_id": [ { "id": "PDE3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13370", "type": "external" } ], "mass": 124333.0, "length": 1112, "protein_name": "cGMP-inhibited 3',5'-cyclic phosphodiesterase 3B", "gene_name": "PDE3B", "organism": "Human", "refseq_name": "cGMP-inhibited 3',5'-cyclic phosphodiesterase 3B isoform 2", "refseq_ac": [ { "id": "NP_000913", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000913", "type": "external" } ], "gene_names_uniprotkb": "PDE3B", "gene_names_refseq": "HcGIP1; PDE3B; cGIPDE1", "protein_names_uniprotkb": "cGMP-inhibited 3',5'-cyclic phosphodiesterase 3B; 3.1.4.17; CGI-PDE B; CGIP1; CGIPDE1; Cyclic GMP-inhibited phosphodiesterase B", "protein_names_refseq": "CGI-PDE B; CGIP1; cGMP-inhibited 3',5'-cyclic phosphodiesterase 3B isoform 2; cGMP-inhibited 3',5'-cyclic phosphodiesterase 3B; cGMP-inhibited 3',5'-cyclic phosphodiesterase B; cyclic GMP-inhibited phosphodiesterase B; cyclic nucleotide phosphodiesterase; phosphodiesterase 3B, cGMP-inhibited", "tax_id": 9606, "disease": "", "pathway": " (hsa:5140); (R-HSA-165160); (R-HSA-418555)", "pathway_count": 3, "publication_count": 96, "publication_id_list": "10454575;10779773;11007482;12036966;12058044;12106601;12180353;12860470;13549488;14592490;14671004;15147193;1517224;15765929;15769620;15951850;16313925;16687412;16702214;16923326;17168849;18044684;18220336;18577758;18669648;19105585;19876791;19929708;20381629;21036126;21393242;2163110;22001403;23186163;2417744;24687066;24715725;2491850;25502872;2553411;2553705;25645385;26031333;26154972;26417854;26992070;27397612;2871555;29443750;29557506;29602314;30429286;30833991;3127824;31279028;31399091;31983287;32226383;32387766;32497535;32540603;32618402;32715661;32897882;32949251;32967310;32983136;33049737;33112806;33141586;34171305;34211107;34509645;34932366;35051231;35580925;35705054;36241641;38092323;38165426;38253038;6085243;8163498;8340388;8514797;8562305;8626720;8672451;8706823;8884271;8921398;9102399;9263355;9417641;9421418;9651336", "class_list": "", "function": "A novel link between circPDE3B and ferroptosis in esophageal squamous cell carcinoma progression., [RefSeq, PubMed]; Cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological process (PubMed:14592490, PubMed:21393242). Regulates angiogenesis by inhibiting the cAMP-dependent guanine nucleotide exchange factor RAPGEF3 and downstream phosphatidylinositol 3-kinase gamma-mediated signaling (PubMed:21393242). Controls cardiac contractility by reducing cAMP concentration in cardiocytes (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Impact of phosphodiesterases PDE3 and PDE4 on 5-hydroxytryptamine receptor4-mediated increase of cAMP in human atrial fibrillation., [RefSeq, PubMed]; In Vitro Inhibition of Phosphodiesterase 3B (PDE 3B) by Anthocyanin-Rich Fruit Juice Extracts and Selected Anthocyanins. Publication Status: Online-Only, [RefSeq, PubMed]; PDE3B regulates KRT6B and increases the sensitivity of bladder cancer cells to copper ionophores., [RefSeq, PubMed]; Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 11, "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": "B7ZM37;O00639;Q14408;Q6SEI4", "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": "3.1.4.35", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.35", "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": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "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" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0043422 protein kinase B binding;GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity;GO:0004114 3',5'-cyclic-nucleotide phosphodiesterase activity;GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane;GO:0032045 guanyl-nucleotide exchange factor complex", "go_biological_process": "GO:0051896 regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0001525 angiogenesis;GO:0007162 negative regulation of cell adhesion;GO:0007186 G protein-coupled receptor signaling pathway;GO:0050995 negative regulation of lipid catabolic process", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q13370-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13946-1", "uniprot_id": [ { "id": "PDE7A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13946", "type": "external" } ], "mass": 55505.0, "length": 482, "protein_name": "High affinity 3',5'-cyclic-AMP phosphodiesterase 7A", "gene_name": "PDE7A", "organism": "Human", "refseq_name": "high affinity 3',5'-cyclic-AMP phosphodiesterase 7A isoform c", "refseq_ac": [ { "id": "NP_001229247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229247", "type": "external" } ], "gene_names_uniprotkb": "PDE7A", "gene_names_refseq": "HCP1; PDE7A; PDE7", "protein_names_uniprotkb": "High affinity 3',5'-cyclic-AMP phosphodiesterase 7A; 3.1.4.53; HCP1; TM22; cAMP-specific phosphodiesterase 7A", "protein_names_refseq": "TM22; cAMP-specific phosphodiesterase 7A; high affinity 3',5'-cyclic-AMP phosphodiesterase 7A isoform c; high affinity 3',5'-cyclic-AMP phosphodiesterase 7A; high affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7A; high affinity cAMP-specific PDE 1; phosphodiesterase isozyme 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:5150); (R-HSA-418555)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "11007482;11237011;11371644;12036966;12058044;12106601;12180353;12860470;13549488;14671004;1517224;15470020;15765929;15769620;15951850;15994308;16313925;16687412;16923326;17168849;18044684;18577758;19105585;19350606;19876791;19929708;20381629;21036126;2163110;2417744;24687066;2491850;2553411;2553705;25576301;25880248;26417854;26992070;27600516;27846572;27862975;2871555;28832583;28834231;28867658;29242379;29443750;29493099;29508533;29557506;29602314;29632711;30315122;30410026;30429286;30779550;30833991;3127824;31279028;31399091;31473904;31844290;31983287;32157095;32226383;32357974;32387766;32497535;32502341;32540603;32618402;32715661;32983136;33049737;33370523;33592498;33691108;33912179;33936100;33981976;34077501;34211107;34932366;35051231;35318648;35580925;35673941;36284347;6085243;8340388;8389765;8514797;8672451;9195912;9263355;9417641;9651336", "class_list": "", "function": "Circ_0091702 relieves lipopolysaccharide (LPS)-induced cell injury by regulating the miR-182/PDE7A axis in sepsis., [RefSeq, PubMed]; Here we describe a compound, BC54, that is a selective inhibitor of enzymes from the cAMP-specific PDE4 and PDE7 families. Consistent with the biological effect of other PDE4 and PDE7 inhibitors, BC54 displays potent anti-inflammatory properties and is superior to a combination of rolipram (a PDE4 inhibitor) and BRL50481 (a PDE7A inhibitor) for inducing apoptosis in chronic lymphocytic leukemia (CLL) cells, [RefSeq, PubMed]; Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes (PubMed:19350606, PubMed:8389765, PubMed:9195912). May have a role in muscle signal transduction (PubMed:9195912)., [UniProtKB, PubMed, PubMed, PubMed]; Long non-coding RNA TUSC7 suppressed colorectal cancer progression via regulation of miR-23b/PDE7A Axis. Publication Status: Online-Only, [RefSeq, PubMed]; Phosphodiesterase 7 Regulation in Cellular and Rodent Models of Parkinson's Disease., [RefSeq, PubMed]; The habenular volume and PDE7A allelic polymorphism in major depressive disorder: preliminary findings., [RefSeq, PubMed]; The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE7 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A0AVH6;A8K436;A8K9G5;O15380;Q96T72", "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:0046872 metal ion binding;GO:0047555 3',5'-cyclic-GMP phosphodiesterase activity;GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0006198 cAMP catabolic process;GO:0141162 negative regulation of cAMP/PKA signal transduction", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "Q13946-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15120-1", "uniprot_id": [ { "id": "PDK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15120", "type": "external" } ], "mass": 46939.0, "length": 406, "protein_name": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial", "gene_name": "PDK3", "organism": "Human", "refseq_name": "pyruvate dehydrogenase kinase, isozyme 3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001135858", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135858", "type": "external" } ], "gene_names_uniprotkb": "PDK3; PDHK3", "gene_names_refseq": "CMTX6; GS1-358P8.4; PDK3", "protein_names_uniprotkb": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial; 2.7.11.2; Pyruvate dehydrogenase kinase isoform 3", "protein_names_refseq": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 3, mitochondrial; pyruvate dehydrogenase kinase, isoenzyme 3; pyruvate dehydrogenase kinase, isozyme 3 isoform 1 precursor; pyruvate dehydrogenase kinase, isozyme 3; pyruvate dehydrogenase, lipoamide, kinase isozyme 3, mitochondrial", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease X-linked dominant 6 (Disease Ontology:DOID:0110207)", "pathway": " (hsa:5165); (R-HSA-204174); (R-HSA-5362517)", "pathway_count": 3, "publication_count": 61, "publication_id_list": "10493790;10748134;11327815;11485553;11486000;11909957;11978179;15855260;15861126;15866176;16436377;17344846;17532006;17532339;17544412;17669420;17683942;18542081;18718909;19144697;19833728;19850744;20042001;20215566;20715114;20884751;21504868;21998312;22865452;22871568;23297365;23991366;24715725;25525879;25892735;27862975;28832583;28904123;29493099;29769354;31844290;31848261;32157095;32350084;32357974;32983136;33141586;33592498;34357683;34387338;35051231;37849068;39531497;7499431;7704533;8798399;9395502;9405293;9651365;9710704;9815194", "class_list": "", "function": "Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model., [RefSeq, PubMed]; Inhibits pyruvate dehydrogenase activity by phosphorylation of the E1 subunit PDHA1, and thereby regulates glucose metabolism and aerobic respiration. Can also phosphorylate PDHA2. Decreases glucose utilization and increases fat metabolism in response to prolonged fasting, and as adaptation to a high-fat diet. Plays a role in glucose homeostasis and in maintaining normal blood glucose levels in function of nutrient levels and under starvation. Plays a role in the generation of reactive oxygen species., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2). It provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle, and thus is one of the major enzymes responsible for the regulation of glucose metabolism. The enzymatic activity of PDH is regulated by a phosphorylation/dephosphorylation cycle, and phosphorylation results in inactivation of PDH. The protein encoded by this gene is one of the three pyruvate dehydrogenase kinases that inhibits the PDH complex by phosphorylation of the E1 alpha subunit. This gene is predominantly expressed in the heart and skeletal muscles. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]., [RefSeq]; Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DXG6", "ec_number_list": [ { "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": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.12", "type": "external" }, { "id": "2.7.11.2", "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" } ], "go_molecular_function": "GO:0004740 pyruvate dehydrogenase (acetyl-transferring) kinase activity;GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0071333 cellular response to glucose stimulus;GO:0010906 regulation of glucose metabolic process;GO:2000377 regulation of reactive oxygen species metabolic process;GO:0018105 peptidyl-serine phosphorylation;GO:0035357 peroxisome proliferator activated receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q15120-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16654-1", "uniprot_id": [ { "id": "PDK4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16654", "type": "external" } ], "mass": 46469.0, "length": 411, "protein_name": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial", "gene_name": "PDK4", "organism": "Human", "refseq_name": "pyruvate dehydrogenase kinase, isozyme 4", "refseq_ac": [ { "id": "NP_002603", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002603", "type": "external" } ], "gene_names_uniprotkb": "PDK4; PDHK4", "gene_names_refseq": "PDK4", "protein_names_uniprotkb": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial; 2.7.11.2; Pyruvate dehydrogenase kinase isoform 4", "protein_names_refseq": "[Pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 4, mitochondrial; [Pyruvate dehydrogenase [lipoamide]] kinase isozyme 4, mitochondrial; pyruvate dehydrogenase kinase, isoenzyme 4; pyruvate dehydrogenase kinase, isozyme 4; pyruvate dehydrogenase, lipoamide, kinase isozyme 4, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:5166); (R-HSA-204174); (R-HSA-5362517); (R-HSA-9841922)", "pathway_count": 4, "publication_count": 78, "publication_id_list": "10425206;10493790;10558993;10835357;10882139;11027271;11327815;11485553;11486000;11909957;12829629;1310260;14966024;15855260;15866176;15955060;16380219;17344846;17532339;17544412;17669420;17761950;18542081;18658136;19043829;19144697;19172745;19833728;19850744;20042001;20215566;20715114;20884751;21504868;21816445;21852536;21904029;21998312;22871568;23991366;25525879;27862975;29557506;30429286;32157095;32387766;32488085;32897882;32938616;33329381;33392160;33592498;33968037;34171305;35051231;35580925;36010968;36215666;36241641;37624974;37737961;37863991;37938771;38096914;38554157;7499431;7704533;8521497;8521498;8798399;9065481;9171241;9395502;9405293;9651365;9710704;9744270;9815194", "class_list": "", "function": "CircFTO from M2 macrophage-derived small extracellular vesicles (sEV) enhances NSCLC malignancy by regulation miR-148a-3pPDK4 axis. Publication Status: Online-Only, [RefSeq, PubMed]; Expression and Role of PDK4 on Childhood Dyslipidemia and Lipid Metabolism in Hyperlipidemic Mice., [RefSeq, PubMed]; High glucose promotes benign prostatic hyperplasia by downregulating PDK4 expression. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibition of Pyruvate Dehydrogenase Kinase 4 Attenuates Myocardial and Mitochondrial Injury in Sepsis-Induced Cardiomyopathy., [RefSeq, PubMed]; Kinase that plays a key role in regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Inhibition of pyruvate dehydrogenase decreases glucose utilization and increases fat metabolism in response to prolonged fasting and starvation. Plays an important role in maintaining normal blood glucose levels under starvation, and is involved in the insulin signaling cascade. Via its regulation of pyruvate dehydrogenase activity, plays an important role in maintaining normal blood pH and in preventing the accumulation of ketone bodies under starvation. In the fed state, mediates cellular responses to glucose levels and to a high-fat diet. Regulates both fatty acid oxidation and de novo fatty acid biosynthesis. Plays a role in the generation of reactive oxygen species. Protects detached epithelial cells against anoikis. Plays a role in cell proliferation via its role in regulating carbohydrate and fatty acid metabolism., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; PDK4 facilitates fibroblast functions and diabetic wound healing through regulation of HIF-1alpha protein stability and gene expression., [RefSeq, PubMed]; This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [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": 4, "reported_glycation": 0, "reported_snv": 20, "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": [ { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "1.14.11.68", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.68", "type": "external" }, { "id": "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": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.12", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.7.11.2", "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" } ], "go_molecular_function": "GO:0004740 pyruvate dehydrogenase (acetyl-transferring) kinase activity;GO:0004672 protein kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0045124 regulation of bone resorption;GO:0010565 regulation of ketone metabolic process;GO:0042594 response to starvation;GO:0010906 regulation of glucose metabolic process;GO:0042304 regulation of fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q16654-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q32M88-1", "uniprot_id": [ { "id": "PGGHG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q32M88", "type": "external" } ], "mass": 80655.0, "length": 737, "protein_name": "Protein-glucosylgalactosylhydroxylysine glucosidase", "gene_name": "PGGHG", "organism": "Human", "refseq_name": "protein-glucosylgalactosylhydroxylysine glucosidase", "refseq_ac": [ { "id": "NP_079368", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079368", "type": "external" } ], "gene_names_uniprotkb": "PGGHG; ATHL1", "gene_names_refseq": "ATHL1; PGGHG", "protein_names_uniprotkb": "Protein-glucosylgalactosylhydroxylysine glucosidase; 3.2.1.107; Acid trehalase-like protein 1", "protein_names_refseq": "ATH1, acid trehalase-like 1; acid trehalase-like protein 1; protein-glucosylgalactosylhydroxylysine glucosidase; testicular tissue protein Li 25", "tax_id": 9606, "disease": "", "pathway": " (hsa:80162)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10.1101/2023.09.13.557529;11237011;19834535;26682924;27862975;28832583;29242379;29393594;29557506;30779550;31154438;31844290;32157095;33298915;34171305;35580925", "class_list": "glycogene;glycosylhydrolase", "function": "Catalyzes the hydrolysis of glucose from the disaccharide unit linked to hydroxylysine residues of collagen and collagen-like proteins., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 1077, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q658X8;Q8TEG9;Q9H635", "ec_number_list": [ { "id": "3.2.1.107", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.107", "type": "external" } ], "go_molecular_function": "GO:0047402 protein-glucosylgalactosylhydroxylysine glucosidase activity;GO:0003824 catalytic activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q32M88-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.000.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q32P28-1", "uniprot_id": [ { "id": "P3H1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q32P28", "type": "external" } ], "mass": 83394.0, "length": 736, "protein_name": "Prolyl 3-hydroxylase 1", "gene_name": "P3H1", "organism": "Human", "refseq_name": "prolyl 3-hydroxylase 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001139761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139761", "type": "external" } ], "gene_names_uniprotkb": "P3H1; GROS1; LEPRE1; PSEC0109", "gene_names_refseq": "GROS1; LEPRE1; OI8; P3H1", "protein_names_uniprotkb": "Prolyl 3-hydroxylase 1; 1.14.11.7; Growth suppressor 1; Leprecan-1; Leucine- and proline-enriched proteoglycan 1", "protein_names_refseq": "growth suppressor 1; leprecan; leucine proline-enriched proteoglycan (leprecan) 1; leucine- and proline-enriched proteoglycan 1; procollagen-proline 3-dioxygenase; prolyl 3-hydroxylase 1 isoform 2 precursor", "tax_id": 9606, "disease": "osteogenesis imperfecta type 8 (Disease Ontology:DOID:0110336)", "pathway": " (hsa:64175); (R-HSA-1650814)", "pathway_count": 2, "publication_count": 120, "publication_id_list": "10.1101/2023.09.13.557529;10479448;10934207;10951563;11237011;12473679;12475640;12646579;1323838;14500733;15044469;1577494;16303743;16591531;17277775;18487197;19075007;19088120;19159218;19693541;20068231;20112406;20470363;21878990;21967573;23090970;24190977;24714562;24715725;25418920;2543975;25880248;25892735;26154972;26375851;26634552;26811146;26992070;27600516;27846572;27862975;27869121;27920218;28228285;28514659;28832583;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29741879;29769354;29786170;29789417;30315122;30429286;30459171;30833945;31154438;31222486;31530632;31611695;3173483;31844290;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34019948;34171305;34211107;34357683;34509645;34725712;34932366;35051231;35154160;35190588;35251023;35327962;35580925;35859453;36284347;36833249;37074911;37217939;37340703;37938771;38665916;3905801;39245686;39302247;3938630;40596516;40914422;6307276;6809411;710450;9054364;9545296;9560306;9582318", "class_list": "glycogene", "function": "A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII. Publication Status: Online-Only, [RefSeq, PubMed]; Biomarker LEPRE1 induces pelitinib-specific drug responsiveness by regulating ABCG2 expression and tumor transition states in human leukemia and lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Cell Surface Accumulation of Intracellular Leucine Proline-Enriched Proteoglycan 1 Enhances Odontogenic Potential of Human Dental Pulp Stem Cells., [RefSeq, PubMed]; Findings suggest that the 3-hydroxylation function of P3H1 is restricted to the 736AA splice form., [RefSeq, PubMed]; Has prolyl 3-hydroxylase activity and catalyzes the post-translational formation of 3-hydroxyproline in -Xaa-Pro-Gly- sequences in pro-collagen chains, a critical step for the formation of mature collagen trimers (PubMed:39245686). May be involved in the secretory pathway of cells. Has growth suppressive activity in fibroblasts., [UniProtKB, PubMed, PubMed]; Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 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": 3, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 1023, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 23, "disease_count": 1, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q7KZR4;Q96BR8;Q96SK8;Q96SL5;Q96SN3;Q9H6K3;Q9HC86;Q9HC87", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "1.14.11.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.7", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0031418 L-ascorbic acid binding;GO:0019797 procollagen-proline 3-dioxygenase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0016020 membrane", "go_biological_process": "GO:1901874 negative regulation of post-translational protein modification;GO:0008285 negative regulation of cell population proliferation;GO:0010976 positive regulation of neuron projection development;GO:0050821 protein stabilization;GO:0006457 protein folding", "synthesized_glycan_count": 0, "hit_score": 15.0, "record_id": "Q32P28-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVL5-1", "uniprot_id": [ { "id": "P3H2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVL5", "type": "external" } ], "mass": 80984.0, "length": 708, "protein_name": "Prolyl 3-hydroxylase 2", "gene_name": "P3H2", "organism": "Human", "refseq_name": "prolyl 3-hydroxylase 2 isoform b", "refseq_ac": [ { "id": "NP_001127890", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001127890", "type": "external" } ], "gene_names_uniprotkb": "P3H2; LEPREL1; MLAT4", "gene_names_refseq": "LEPREL1; MCVD; MLAT4; P3H2", "protein_names_uniprotkb": "Prolyl 3-hydroxylase 2; 1.14.11.7; Leprecan-like protein 1; Myxoid liposarcoma-associated protein 4", "protein_names_refseq": "leprecan-like 1; myxoid liposarcoma-associated protein 4; procollagen-proline 3-dioxygenase 2; prolyl 3-hydroxylase 2 isoform b; prolyl 3-hydroxylase 3", "tax_id": 9606, "disease": "myopia, high, with cataract and vitreoretinal degeneration (MONDO:MONDO:0013670)", "pathway": " (hsa:55214); (R-HSA-1650814)", "pathway_count": 2, "publication_count": 92, "publication_id_list": "10.1101/2023.09.13.557529;10449603;10479448;10934207;11237011;12473679;12475640;12646579;1323838;14500733;15044469;15063763;1577494;16591531;16959974;18487197;19075007;19436308;19693541;20470363;21757687;21878990;21885030;21967573;24172257;25418920;2543975;25469533;25576301;25880248;25892735;26375851;26811146;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28832583;28904123;29242379;29331515;29393594;29557506;29632046;29956121;30315122;30410026;30429286;30608193;31092671;31154438;31217245;31530632;3173483;31844290;31848261;31937595;32157095;32265295;32350084;32357974;32387766;32488085;32938616;33141586;33298915;33592498;33717175;33912179;33918807;33968037;34211107;34561969;34932366;35051231;35580925;36284347;37074911;37217939;38665916;3905801;3938630;6307276;6809411;710450;9054364;9545296;9560306;9582318", "class_list": "glycogene", "function": "Data identified an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk., [RefSeq, PubMed]; High myopia is caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2., [RefSeq, PubMed]; Mutation in the LEPREL1 gene is associated with ectopia lentis., [RefSeq, PubMed]; P3H2 has preferred substrate sequences among the classes of 3Hyp sites in clade A collagen chains, [RefSeq, PubMed]; P3H2 is responsible for the hydroxylation of collagen IV, which has the highest 3-hydroxyproline content of all collagens. It is thus possible that P3H2 mutations may lead to a disease with changes in basement membranes., [RefSeq, PubMed]; Prolyl 3-Hydroxylase 2 Is a Molecular Player of Angiogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline on collagens (PubMed:18487197). Contributes to proline 3-hydroxylation of collagen COL4A1 and COL1A1 in tendons, the eye sclera and in the eye lens capsule (By similarity). Has high activity with the type IV collagen COL4A1, and lower activity with COL1A1 (PubMed:18487197). Catalyzes hydroxylation of the first Pro in Gly-Pro-Hyp sequences where Hyp is 4-hydroxyproline (PubMed:18487197). Has no activity on substrates that lack 4-hydroxyproline in the third position (PubMed:18487197)., [UniProtKB, UniProtKB, PubMed]; The restriction of silencing in P3H2 to breast carcinomas, and its association with oestrogen-receptor-positive cases, suggests that P3H2 may be a breast-cancer-specific tumour suppressor., [RefSeq, PubMed]; This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1125, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KPK0;B3KWI9;D3DNV8;Q9NVI2", "ec_number_list": [ { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" }, { "id": "1.14.11.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.7", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0031418 L-ascorbic acid binding;GO:0019797 procollagen-proline 3-dioxygenase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005794 Golgi apparatus;GO:0005604 basement membrane;GO:0016529 sarcoplasmic reticulum", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0019511 peptidyl-proline hydroxylation;GO:0032963 collagen metabolic process", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q8IVL5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXQ8-1", "uniprot_id": [ { "id": "PDZD9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXQ8", "type": "external" } ], "mass": 29904.0, "length": 264, "protein_name": "PDZ domain-containing protein 9", "gene_name": "PDZD9", "organism": "Human", "refseq_name": "PDZ domain-containing protein 9 isoform 1", "refseq_ac": [ { "id": "NP_776167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_776167", "type": "external" } ], "gene_names_uniprotkb": "PDZD9; C16orf65", "gene_names_refseq": "C16orf65; PDZD9", "protein_names_uniprotkb": "PDZ domain-containing protein 9", "protein_names_refseq": "PDZ domain-containing protein 9 isoform 1; PDZ domain-containing protein 9; PDZ domain-containing protein C16orf65", "tax_id": 9606, "disease": "", "pathway": " (hsa:255762)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "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": "F5GWW8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8IXQ8-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYJ0-1", "uniprot_id": [ { "id": "PIANP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYJ0", "type": "external" } ], "mass": 30076.0, "length": 282, "protein_name": "PILR alpha-associated neural protein", "gene_name": "PIANP", "organism": "Human", "refseq_name": "PILR alpha-associated neural protein isoform b precursor", "refseq_ac": [ { "id": "NP_001230943", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230943", "type": "external" } ], "gene_names_uniprotkb": "PIANP; C12orf53; PANP; PRO1755", "gene_names_refseq": "C12orf53; LEDA1; PANP; PIANP; leda-1", "protein_names_uniprotkb": "PILR alpha-associated neural protein; PILR-associating neural protein; Paired immunoglobin-like type 2 receptor-associating neural protein", "protein_names_refseq": "PILR alpha-associated neural protein isoform b precursor; PILR-associating neural protein; liver endothelial differentiation-associated protein-1; paired immunoglobin-like type 2 receptor-associating neural protein", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:196500); (R-HSA-198933)", "pathway_count": 2, "publication_count": 82, "publication_id_list": "10499918;10746781;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12975309;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23558288;23695528;23929856;24305946;25703557;25716998;26284469;26300885;27216462;35051231;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "Acts as a ligand for PILRA in neural tissues, where it may be involved in immune regulation., [UniProtKB, PubMed]; Functionally, Leda-1/Pianp increased the transepithelial electrical resistance generated by a polarized cell sheet. While Claudin 1 and 4 expression and activities of small GTPases were not affected, gamma-Secretase-mediated cleavage of E-Cadherin was attenuated by Leda-1/Pianp., [RefSeq, PubMed]; Furin-like proprotein convertase-dependent processing precedes the plasma membrane localization of LEDA-1/PIANP that is required for functional receptor-ligand interactions in vitro and in vivo., [RefSeq, PubMed]; These results suggest that PANP is involved in immune regulation as a ligand of the PILRalpha., [RefSeq, PubMed]; This gene encodes a ligand for the paired immunoglobin-like type 2 receptor alpha, and so may be involved in immune regulation. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Sep 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K0T3;B3KPF7;B3KRI6;Q6UX35", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0098793 presynapse", "go_biological_process": "GO:0050776 regulation of immune response", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q8IYJ0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3S3-1", "uniprot_id": [ { "id": "PHTF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3S3", "type": "external" } ], "mass": 88757.0, "length": 785, "protein_name": "Protein PHTF2", "gene_name": "PHTF2", "organism": "Human", "refseq_name": "protein PHTF2 isoform 1", "refseq_ac": [ { "id": "NP_001120829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120829", "type": "external" } ], "gene_names_uniprotkb": "PHTF2", "gene_names_refseq": "PHTF2", "protein_names_uniprotkb": "Protein PHTF2", "protein_names_refseq": "protein PHTF2 isoform 1; protein PHTF2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57157)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "22544926;23481700;24714562;25576301;25645385;26154972;26375851;26992070;27600516;27862975;27920218;28218747;28228285;28832583;28834231;29242379;29437277;29493099;29508533;29557506;30315122;30410026;30524438;31217245;31844290;32157095;32357974;32387766;32938616;32983136;33141586;33298915;33592498;33717175;33912179;33968037;34171305;34211107;34509645;34932366;35051231;35580925;36010968;36215666;36284347;39894887", "class_list": "", "function": "", "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": 0, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "A0JP04;A0JP05;A4D1C2;B3KQZ2;E9PEE3;G5E9H7;Q6NW35;Q8TBW4;Q9H099", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q8N3S3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4E4-1", "uniprot_id": [ { "id": "PDCL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4E4", "type": "external" } ], "mass": 28071.0, "length": 241, "protein_name": "Phosducin-like protein 2", "gene_name": "PDCL2", "organism": "Human", "refseq_name": "phosducin-like protein 2", "refseq_ac": [ { "id": "NP_689614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689614", "type": "external" } ], "gene_names_uniprotkb": "PDCL2", "gene_names_refseq": "GCPHLP; PDCL2", "protein_names_uniprotkb": "Phosducin-like protein 2", "protein_names_refseq": "phosducin-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:132954)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "19193988;28904123;29557506;36253364;36278277", "class_list": "", "function": "Essential for male fertility, spermiogenesis and acrosome formation., [UniProtKB, UniProtKB]; The X-ray crystal structure of the thioredoxin (Trx)-fold domain of PDCL2 has been solved and resembles the Trx-fold domain of rat; the presence of two molecules in an asymmetric unit is suggested., [RefSeq, PubMed]; This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A8MWA2;B9ZVQ9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0007286 spermatid development;GO:0006457 protein folding;GO:0001675 acrosome assembly", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8N4E4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6C7-1", "uniprot_id": [ { "id": "PGSF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6C7", "type": "external" } ], "mass": 14321.0, "length": 128, "protein_name": "Putative uncharacterized protein encoded by MIR7-3HG", "gene_name": "MIR7-3HG", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "MIR7-3HG; C19orf30; LINC00306; NCRNA00306; PGSF1", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein encoded by MIR7-3HG; Pituitary gland-specific factor 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "11854097;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": "D6W630;Q17RJ9;Q8N6C6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8N6C7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCT1-1", "uniprot_id": [ { "id": "PHOP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCT1", "type": "external" } ], "mass": 29713.0, "length": 267, "protein_name": "Phosphoethanolamine/phosphocholine phosphatase", "gene_name": "PHOSPHO1", "organism": "Human", "refseq_name": "phosphoethanolamine/phosphocholine phosphatase isoform 1", "refseq_ac": [ { "id": "NP_001137276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137276", "type": "external" } ], "gene_names_uniprotkb": "PHOSPHO1", "gene_names_refseq": "PHOSPHO1", "protein_names_uniprotkb": "Phosphoethanolamine/phosphocholine phosphatase; 3.1.3.75", "protein_names_refseq": "phosphatase, orphan 1; phosphoethanolamine/phosphocholine phosphatase isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:162466); (R-HSA-1483191); (R-HSA-1483213)", "pathway_count": 3, "publication_count": 49, "publication_id_list": "10100195;10191259;10677542;10893425;11044454;11068039;11237011;11420179;11698453;12055623;12216837;12221122;12464021;14973250;14983068;15050893;15175005;15715662;15911624;16054448;17007874;17132865;17158099;17478478;17561512;18471996;18583706;18694939;19915674;20338778;21926997;22241472;23328280;23901139;24732803;24828044;26005868;26048993;26945070;27148772;28173150;28821867;30379171;3057511;32983136;35580925;35943680;9083101;9593753", "class_list": "", "function": "CpG sites located in PHOSPHO1 gene showed differential methylation in association with lipid traits. Genetic variants in PHOSPHO1 gene were also associated with lipid profile. Erratum:[Hum Mol Genet. 2019 Apr 15;28(8):1402. doi: 10.1093/hmg/ddy417. PMID: 30541122], [RefSeq, PubMed]; DNA methylation at the PHOSPHO1 locus cg02650017 in blood DNA was associated with a decreased risk for future type 2 diabetes., [RefSeq, PubMed]; Models of PHOSPHO2 and PHOSPHO1 suggest subtle differences in the charge distributions around the putative substrate entry site and in the location of potential H-bond donors., [RefSeq, PubMed]; PHOSPHO1 Serves as a Key Metabolism-Related Biomarker in the Tumorigenesis of Diffuse Large B-cell Lymphoma. Erratum:[Curr Med Sci. 2023 Apr;43(2):421. doi: 10.1007/s11596-023-2710-0. PMID: 37099217], [RefSeq, PubMed]; Phosphatase that has a high activity toward phosphoethanolamine (PEA) and phosphocholine (PCho) (PubMed:15175005). Involved in the generation of inorganic phosphate for bone mineralization (By similarity). Acts in a non-redundant manner with PHOSPHO1 in skeletal mineralization: while PHOSPHO1 mediates the initiation of hydroxyapatite crystallization in the matrix vesicles (MVs), ALPL/TNAP catalyzes the spread of hydroxyapatite crystallization in the extracellular matrix (By similarity)., [UniProtKB, PubMed, UniProtKB]; Phosphatase that has a high activity toward phosphoethanolamine (PEA) and phosphocholine (PCho). Involved in the generation of inorganic phosphate for bone mineralization. Acts in a non-redundant manner with PHOSPHO1 in skeletal mineralization: while PHOSPHO1 mediates the initiation of hydroxyapatite crystallization in the matrix vesicles (MVs), ALPL/TNAP catalyzes the spread of hydroxyapatite crystallization in the extracellular matrix., [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": 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": "E9PAM0;Q17RU6", "ec_number_list": [ { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "3.1.3.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.75", "type": "external" } ], "go_molecular_function": "GO:0016462 pyrophosphatase activity;GO:0052731 phosphocholine phosphatase activity;GO:0052732 phosphoethanolamine phosphatase activity;GO:0046872 metal ion binding;GO:0016791 phosphatase activity", "go_cellular_component": "GO:0065010 extracellular membrane-bounded organelle;GO:0005829 cytosol;GO:0031012 extracellular matrix;GO:1903561 extracellular vesicle", "go_biological_process": "GO:0035630 bone mineralization involved in bone maturation;GO:0030500 regulation of bone mineralization;GO:0030282 bone mineralization", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q8TCT1-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DM1-1", "uniprot_id": [ { "id": "PGBD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DM1", "type": "external" } ], "mass": 67004.0, "length": 585, "protein_name": "PiggyBac transposable element-derived protein 4", "gene_name": "PGBD4", "organism": "Human", "refseq_name": "piggyBac transposable element-derived protein 4", "refseq_ac": [ { "id": "NP_689808", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689808", "type": "external" } ], "gene_names_uniprotkb": "PGBD4", "gene_names_refseq": "PGBD4", "protein_names_uniprotkb": "PiggyBac transposable element-derived protein 4", "protein_names_refseq": "piggyBac transposable element-derived protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:161779)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "28411811;30620550;31844290;32157095;32938616;35051231;37217939", "class_list": "", "function": "The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A1L487;A8K0C6;Q8N9E8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q96DM1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96FE7-1", "uniprot_id": [ { "id": "P3IP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96FE7", "type": "external" } ], "mass": 28248.0, "length": 263, "protein_name": "Phosphoinositide-3-kinase-interacting protein 1", "gene_name": "PIK3IP1", "organism": "Human", "refseq_name": "phosphoinositide-3-kinase-interacting protein 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001129383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129383", "type": "external" } ], "gene_names_uniprotkb": "PIK3IP1; HGFL", "gene_names_refseq": "HGFL; PIK3IP1; TrIP; hHGFL(S)", "protein_names_uniprotkb": "Phosphoinositide-3-kinase-interacting protein 1; Kringle domain-containing protein HGFL; PI3K-interacting protein 1", "protein_names_refseq": "PI3K-interacting protein 1; kringle domain-containing protein HGFL; phosphoinositide-3-kinase-interacting protein 1 isoform 2 precursor; transmembrane inhibitor of PI3K", "tax_id": 9606, "disease": "", "pathway": " (hsa:113791)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10.1074/mcp.M114.046862;11237011;15340161;17475214;18477386;19088825;19531498;22171320;23090970;24190977;25502872;25548167;25813380;25892735;27452731;28411811;28549102;28832583;29242379;29314611;29557506;29769354;30237853;30429286;30459171;30573663;30626607;31154438;31350312;31611695;31844290;32157095;32162841;32350084;32983136;33043033;33141586;33592498;34357683;35051231;35154160;35251023;35561310;35580925;37074911;37550343;37938771;38658954", "class_list": "", "function": "CircPDE5A-encoded novel regulator of the PI3K/AKT pathway inhibits esophageal squamous cell carcinoma progression by promoting USP14-mediated de-ubiquitination of PIK3IP1. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulation of PIK3IP1 in retinal microglia promotes retinal pathological neovascularization via PI3K-AKT pathway activation. Publication Status: Online-Only, [RefSeq, PubMed]; Findings indicate that colon cancer associated transcript 1 (non-protein coding) (CCAT1) was upregulated in osteosarcoma tissues and cells, and was involved in the proliferation and migration of osteosarcoma via regulating miR-148a/phosphatidyl inositol 3-kinase interacting protein 1 (PIK3IP1) signal pathway., [RefSeq, PubMed]; Negative regulator of hepatic phosphatidylinositol 3-kinase (PI3K) activity., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; PIK3IP1 directly binds to the p110 catalytic subunit and down modulates PI3K activity. Suggested that PIK3IP1 is a new type of PI3K regulator., [RefSeq, PubMed]; Pik3ip1 Is a Negative Immune Regulator that Inhibits Antitumor T-Cell Immunity. Erratum:[Clin Cancer Res. 2022 May 13;28(10):2197. doi: 10.1158/1078-0432.CCR-22-1109. PMID: 35553648], [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": 2, "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": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 20, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B4DRR9;D1MEI0;O00318;Q49A94;Q86YW2;Q8NCJ9", "ec_number_list": [], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0005102 signaling receptor binding;GO:0141039 phosphatidylinositol 3-kinase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane", "go_biological_process": "GO:0051898 negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q96FE7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LB8-1", "uniprot_id": [ { "id": "PGRP4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LB8", "type": "external" } ], "mass": 40620.0, "length": 373, "protein_name": "Peptidoglycan recognition protein 4", "gene_name": "PGLYRP4", "organism": "Human", "refseq_name": "peptidoglycan recognition protein 4 precursor", "refseq_ac": [ { "id": "NP_065126", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065126", "type": "external" } ], "gene_names_uniprotkb": "PGLYRP4; PGRPIB; SBBI67", "gene_names_refseq": "PGLYRP4; PGLYRPIbeta; PGRP-Ibeta; PGRPIB; SBBI67", "protein_names_uniprotkb": "Peptidoglycan recognition protein 4; PGLYRPIbeta; PGRP-I-beta; Peptidoglycan recognition protein I-beta; Peptidoglycan recognition protein intermediate beta", "protein_names_refseq": "PGRP-I-beta; peptidoglycan recognition protein 4 precursor; peptidoglycan recognition protein I-beta; peptidoglycan recognition protein intermediate beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:57115); (R-HSA-6803157)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "11120840;11313366;11389039;11461926;11971875;12493837;13816;14506276;14739326;1522221;15229136;15778384;15826377;15956276;16054449;16215847;16336202;16354652;16354654;16362825;16374474;16799473;16931762;16940129;17363965;17502600;17567961;17964057;18021746;18160480;18185531;18673279;19095652;19179970;19254208;19818633;20103720;20180804;20237496;20382864;20395631;20510021;20845358;21787330;22262861;22327069;22455996;22701042;23302724;23426625;24219363;24256734;24715725;24838182;25075772;25461571;25596890;26039076;26148048;27089320;31616404;3286634;9523110;9665269;9756476", "class_list": "", "function": "A significant induction of three PGLYRPs 2-4 in primary human corneal epithelial cells (HCECs) exposed to live or heat-killed Candida albicans, is reported. Publication Status: Online-Only, [RefSeq, PubMed]; Data are consistent with previous reports of association of psoriasis with genes on 1q21, and suggest a role for Pglyrp4 in skin biology., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Pattern receptor that binds to murein peptidoglycans (PGN) of Gram-positive bacteria. Has bactericidal activity towards Gram-positive bacteria. May kill Gram-positive bacteria by interfering with peptidoglycan biosynthesis. Also binds to Gram-negative bacteria, and has bacteriostatic activity towards Gram-negative bacteria. Plays a role in innate immunity., [UniProtKB, PubMed]; Peptidoglycan Recognition Protein 4 Limits Bacterial Clearance and Inflammation in Lungs by Control of the Gut Microbiota. Publication Status: Online-Only, [RefSeq, PubMed]; Results describe the function of mammalian antimicrobial peptidoglycan recognition proteins 3 and 4, and show that they are a new class of bactericidal and bacteriostatic proteins., [RefSeq, PubMed]; This gene encodes a peptidoglycan recognition protein, which belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. These proteins are part of the innate immune system and recognize peptidoglycan, a ubiquitous component of bacterial cell walls. This antimicrobial protein binds to murein peptidoglycans of Gram-positive bacteria. [provided by RefSeq, Oct 2014]., [RefSeq]; This study demonistrated that PGLYRP4 single-nucleotide polymorphisms is risk of Parkinson's disease., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K838;Q3B822;Q3B823;Q5SY63;Q5SY64;Q9HD75", "ec_number_list": [], "go_molecular_function": "GO:0042834 peptidoglycan binding;GO:0008745 N-acetylmuramoyl-L-alanine amidase activity;GO:0008270 zinc ion binding;GO:0046982 protein heterodimerization activity;GO:0016019 peptidoglycan immune receptor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0016020 membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0006955 immune response;GO:0045087 innate immune response;GO:0050830 defense response to Gram-positive bacterium;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0016045 detection of bacterium", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q96LB8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRX2-1", "uniprot_id": [ { "id": "PELO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRX2", "type": "external" } ], "mass": 43359.0, "length": 385, "protein_name": "Protein pelota homolog", "gene_name": "PELO", "organism": "Human", "refseq_name": "protein pelota homolog", "refseq_ac": [ { "id": "NP_057030", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057030", "type": "external" } ], "gene_names_uniprotkb": "PELO; CGI-17", "gene_names_refseq": "CGI-17; PELO; PRO1770", "protein_names_uniprotkb": "Protein pelota homolog; Protein Dom34 homolog; hPelota", "protein_names_refseq": "hPelota; pelota homolog; protein Dom34 homolog; protein pelota homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:53918); (R-HSA-9954714)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "11060452;17081983;17669516;18088087;18452278;18669648;19651622;19690332;19913121;20068231;20306291;21406692;21448132;23481700;23667253;24275569;25132172;25576301;26154972;26375851;26992070;27543824;27600516;27846572;27863242;27920218;28213379;28218747;28228285;28832583;28834231;29242379;29331515;29393594;29437277;29493099;29861391;30315122;30429286;30779550;31154438;31217245;31844290;32006463;32157095;32265295;32350084;32357974;32387766;32488085;32938616;32983136;33298915;33592498;33968037;34087483;34509645;34932366;35580925;36010968;36284347;36581221;36948192;37340703;38665916;40307207;40596516;40914422", "class_list": "", "function": "Component of the Pelota-HBS1L complex, a complex that recognizes stalled ribosomes and triggers the No-Go Decay (NGD) pathway (PubMed:21448132, PubMed:23667253, PubMed:27543824, PubMed:27863242). In the Pelota-HBS1L complex, PELO recognizes ribosomes stalled at the 3' end of an mRNA and engages stalled ribosomes by destabilizing mRNA in the mRNA channel (PubMed:27543824, PubMed:27863242). Following mRNA extraction from stalled ribosomes by the SKI complex, the Pelota-HBS1L complex promotes recruitment of ABCE1, which drives the disassembly of stalled ribosomes, followed by degradation of damaged mRNAs as part of the NGD pathway (PubMed:21448132, PubMed:32006463). As part of the PINK1-regulated signaling, upon mitochondrial damage is recruited to the ribosome/mRNA-ribonucleoprotein complex associated to mitochondrial outer membrane thereby enabling the recruitment of autophagy receptors and induction of mitophagy (PubMed:29861391)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, 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]; Ribosome-rescuer PELO catalyzes the oligomeric assembly of NOD-like receptor family proteins via activating their ATPase enzymatic activity., [RefSeq, PubMed]; The data suggest that the decay of platelet mRNAs is slowed by the natural loss of the mRNA surveillance and ribosome rescue factor Pelota., [RefSeq, PubMed]; This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in spermatogenesis, cell cycle control, and in meiotic cell division. [provided by RefSeq, Jul 2008]., [RefSeq]; Thrombopoietin-induced in vitro differentiation of primary human cord blood mononuclear cells into megakaryocytes, we observed rapid, progressive CpG methylation of ITGA1, but not PELO or ITGA2., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "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": "Q9GZS6;Q9Y306", "ec_number_list": [], "go_molecular_function": "GO:0046872 metal ion binding;GO:0043022 ribosome binding;GO:0170011 stalled ribosome sensor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0022626 cytosolic ribosome;GO:1990533 Dom34-Hbs1 complex", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0032790 ribosome disassembly;GO:0070481 nuclear-transcribed mRNA catabolic process, non-stop decay;GO:0070651 nonfunctional rRNA decay;GO:0071025 RNA surveillance", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q9BRX2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BX93-1", "uniprot_id": [ { "id": "PG12B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BX93", "type": "external" } ], "mass": 21659.0, "length": 195, "protein_name": "Group XIIB secretory phospholipase A2-like protein", "gene_name": "PLA2G12B", "organism": "Human", "refseq_name": "group XIIB secretory phospholipase A2-like protein isoform b precursor", "refseq_ac": [ { "id": "NP_001305053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305053", "type": "external" } ], "gene_names_uniprotkb": "PLA2G12B; FKSG71; PLA2G13", "gene_names_refseq": "FKSG71; GXIIB; GXIIIsPLA2; PLA2G12B; PLA2G13; sPLA2-GXIIB", "protein_names_uniprotkb": "Group XIIB secretory phospholipase A2-like protein; GXIIB; GXIII sPLA2-like; Group XIII secretory phospholipase A2-like protein; sPLA2-GXIIB", "protein_names_refseq": "group XIIB secretory phospholipase A2-like protein isoform b precursor; group XIIB secretory phospholipase A2-like protein; group XIII secreted phospholipase A2; phospholipase A2, group XIII", "tax_id": 9606, "disease": "", "pathway": " (hsa:84647)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "14516201;15340161;18991276;27471003;27862975;29557506", "class_list": "", "function": "FXR regulates serum triglyceride level in part through PLA2G12B., [RefSeq, PubMed]; Not known; does not seem to have catalytic activity., [UniProtKB]; The protein encoded by this gene belongs to the phospholipase A2 (PLA2) group of enzymes, which function in glycolipid hydrolysis with the release of free fatty acids and lysophospholipids. This family member has altered phospholipid-binding properties and is catalytically inactive. The protein is secreted, and together with microsomal triglyceride transfer protein, it functions to regulate HNF4alpha-induced hepatitis C virus infectivity. The expression of this gene is down-regulated in various tumors, suggesting that it may function as a negative regulator of tumor progression. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7ZL23;Q52LB2;Q96Q99", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0004623 phospholipase A2 activity", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0016042 lipid catabolic process;GO:0050482 arachidonate secretion;GO:0042632 cholesterol homeostasis;GO:0070328 triglyceride homeostasis;GO:0006644 phospholipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9BX93-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZP0-1", "uniprot_id": [ { "id": "PDGFD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZP0", "type": "external" } ], "mass": 42848.0, "length": 370, "protein_name": "Platelet-derived growth factor D", "gene_name": "PDGFD", "organism": "Human", "refseq_name": "platelet-derived growth factor D isoform 1 precursor", "refseq_ac": [ { "id": "NP_079484", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079484", "type": "external" } ], "gene_names_uniprotkb": "PDGFD; IEGF; MSTP036; PRO4345; SCDGFB", "gene_names_refseq": "IEGF; MSTP036; PDGFD; SCDGF-B; SCDGFB", "protein_names_uniprotkb": "Platelet-derived growth factor D; Iris-expressed growth factor; PDGF-D; SCDGF-B; Spinal cord-derived growth factor B", "protein_names_refseq": "PDGF-D; iris-expressed growth factor; platelet-derived growth factor D isoform 1 precursor; spinal cord-derived growth factor B", "tax_id": 9606, "disease": "prostate carcinoma (Disease Ontology:DOID:10286); prostatic hypertrophy (Disease Ontology:DOID:11132); atherosclerosis (Disease Ontology:DOID:1936); glomerulonephritis (Disease Ontology:DOID:2921); mesangial proliferative glomerulonephritis (Disease Ontology:DOID:4783); liver cirrhosis (Disease Ontology:DOID:5082); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:80310); (R-HSA-186797)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10508235;11162582;11237011;11331881;11331882;11342471;11980634;12107412;12369853;12427128;12538485;12975309;1311092;14514732;15207811;15271796;15615512;15767546;15988036;16279938;16331269;1639841;16436588;16474853;16959974;17367763;17604334;17943726;18559524;19564526;20434526;20813817;21251937;21376233;22933705;23583652;25328409;25597754;25645385;27600516;28435517;29093181;29137923;29263244;29314611;29408302;29632046;29964125;30389923;30429286;30459171;30833945;31085175;31154438;32157095;32488085;33592498;34171305;35051231;35580925;37074911;37253627;37321532;37950842;38652223;38705811;8900172;9334164;9739761", "class_list": "", "function": "Exploring the impact of PDGFD in osteosarcoma metastasis through single-cell sequencing analysis., [RefSeq, PubMed]; Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin. Plays an important role in wound healing. Induces macrophage recruitment, increased interstitial pressure, and blood vessel maturation during angiogenesis. Can initiate events that lead to a mesangial proliferative glomerulonephritis, including influx of monocytes and macrophages and production of extracellular matrix (By similarity)., [UniProtKB, PubMed, PubMed]; LncRNA PITPNA-AS1 promotes cell proliferation and metastasis in hepatocellular carcinoma by upregulating PDGFD., [RefSeq, PubMed]; MicroRNA miR-145-5p Inhibits Cutaneous Wound Healing by Targeting PDGFD in Diabetic Foot Ulcer., [RefSeq, PubMed]; Platelet-derived growth factor D: tumorigenicity in mice and dysregulated expression in human cancer, [RefSeq, PubMed]; Reversible promoter demethylation of PDGFD confers gemcitabine resistance through STAT3 activation and RRM1 upregulation., [RefSeq, PubMed]; The protein encoded by this gene is a member of the platelet-derived growth factor family. The four members of this family are mitogenic factors for cells of mesenchymal origin and are characterized by a core motif of eight cysteines, seven of which are found in this factor. This gene product only forms homodimers and, therefore, does not dimerize with the other three family members. It differs from alpha and beta members of this family in having an unusual N-terminal domain, the CUB domain. Two splice variants have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of THBS1 and PDGFD in the immune microenvironment of Helicobacter pylori-associated gastric cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 3939, "biomarker_type": "", "glycan_count": 4, "disease_count": 7, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K9T6;Q9BWV5", "ec_number_list": [], "go_molecular_function": "GO:0005161 platelet-derived growth factor receptor binding;GO:0008083 growth factor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0072126 positive regulation of glomerular mesangial cell proliferation;GO:0008284 positive regulation of cell population proliferation;GO:0030335 positive regulation of cell migration;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0070374 positive regulation of ERK1 and ERK2 cascade", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q9GZP0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HCL0-1", "uniprot_id": [ { "id": "PCD18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HCL0", "type": "external" } ], "mass": 126149.0, "length": 1135, "protein_name": "Protocadherin-18", "gene_name": "PCDH18", "organism": "Human", "refseq_name": "protocadherin-18 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001287757", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287757", "type": "external" } ], "gene_names_uniprotkb": "PCDH18; KIAA1562", "gene_names_refseq": "PCDH18; PCDH68L", "protein_names_uniprotkb": "Protocadherin-18", "protein_names_refseq": "protocadherin 68-like protein; protocadherin-18 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:54510)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11549318;23481700;26739415;26758079;27600516;28588296;29557506;29786170;31154438;31844290;33141586;33592498;33968037;35051231;35580925", "class_list": "", "function": "A homozygous PCDH18 missense mutation (S1006L)from familial hemophagocytic lymphohistiocytosis type 2 patient destabilized the protein structure., [RefSeq, PubMed]; Our results suggested that PCDH18 was a putative tumor suppressor with epigenetic silencing in colorectal cancer and a potential biomarker for colorectal cancer diagnosis. Publication Status: Online-Only, [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein., [UniProtKB]; This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This gene encodes a protein which contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. Although its specific function is undetermined, the cadherin-related neuronal receptor is thought to play a role in the establishment and function of specific cell-cell connections in the brain. [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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 64, "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": "A8K7K3;B7ZKT1;Q52LS2", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007420 brain development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9HCL0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZ53-1", "uniprot_id": [ { "id": "PDXL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZ53", "type": "external" } ], "mass": 65076.0, "length": 605, "protein_name": "Podocalyxin-like protein 2", "gene_name": "PODXL2", "organism": "Human", "refseq_name": "podocalyxin-like protein 2 precursor", "refseq_ac": [ { "id": "NP_056535", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056535", "type": "external" } ], "gene_names_uniprotkb": "PODXL2; PRO3742", "gene_names_refseq": "EG; PODLX2; PODXL2", "protein_names_uniprotkb": "Podocalyxin-like protein 2; Endoglycan", "protein_names_refseq": "endoglycan; podocalyxin-like protein 2 precursor; podocalyxin-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:50512); (R-HSA-156584)", "pathway_count": 2, "publication_count": 69, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10199779;10224133;10503886;10512730;10722749;11077054;11154739;11457664;11739018;12039030;12145317;12372849;12889478;12975309;14622112;14672934;15358107;17081983;18077418;18452278;18606703;18669648;18672380;19651622;20068231;20112406;2268288;23090970;23186163;23234360;23479625;23481380;23584533;24190977;26992070;28228285;28514659;29393594;30192525;30315122;30459171;31844290;32350084;32488085;32669966;32897882;32938616;33968037;34171305;34208313;34390512;35051231;35251023;36010968;36215666;38253038;6139755;6770210;7678732;7779757;8185618;8697101;9034160;9463486;9501187;9566739;9852044", "class_list": "", "function": "Acts as a ligand for vascular selectins. Mediates rapid rolling of leukocytes over vascular surfaces through high affinity divalent cation-dependent interactions with E-, P- and L-selectins., [UniProtKB, PubMed]; Endoglycan (PODXL2) is proteolytically processed by ADAM10 (a disintegrin and metalloprotease 10) and controls neurite branching in primary neurons., [RefSeq, PubMed]; Endoglycan functions as an L-selectin ligand through modification with tyrosine sulfation and sialyl Lewis x, [RefSeq, PubMed]; ITGB6-Knockout Suppresses Cholangiocarcinoma Cell Migration and Invasion with Declining PODXL2 Expression. Publication Status: Online-Only, [RefSeq, PubMed]; PODXL2 maintains cellular stemness and promotes breast cancer development through the Rac1/Akt pathway. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the CD34 family of cell surface transmembrane proteins, which are characterized by an N-terminal extracellular mucin domain, globular and stalk domains, a single pass transmembrane region, and a charged cytoplasmic tail. The encoded protein is a ligand for vascular selectins. [provided by RefSeq, Oct 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": 3, "reported_o_glycosites": 2, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 15, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 15, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 6, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 8, "disease_count": 0, "glyco_site_count": 19, "binding_glycan_count": 0, "secondary_ac_list": "Q6UVY4;Q8WUV6", "ec_number_list": [], "go_molecular_function": "GO:0005539 glycosaminoglycan binding", "go_cellular_component": "GO:0005796 Golgi lumen;GO:0005886 plasma membrane", "go_biological_process": "GO:0050901 leukocyte tethering or rolling", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q9NZ53-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHV9-1", "uniprot_id": [ { "id": "PFD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHV9", "type": "external" } ], "mass": 16648.0, "length": 154, "protein_name": "Prefoldin subunit 2", "gene_name": "PFDN2", "organism": "Human", "refseq_name": "prefoldin subunit 2", "refseq_ac": [ { "id": "NP_036526", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036526", "type": "external" } ], "gene_names_uniprotkb": "PFDN2; HSPC231; PFD2", "gene_names_refseq": "PFD2; PFDN2", "protein_names_uniprotkb": "Prefoldin subunit 2", "protein_names_refseq": "prefoldin 2; prefoldin subunit 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:5202); (R-HSA-389957)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10931946;17936702;23783831;24714562;24715725;25576301;26154972;26728094;26811146;26992070;27600516;27920218;28510447;28832583;28834231;28904123;29242379;29557506;29786170;30192525;30379171;30429286;30524438;30779550;31020640;31154438;31530632;31738558;31844290;31848261;32157095;32350084;32488085;32502341;32897882;32938616;32983136;33214551;33592498;33717175;33968037;33981976;34019948;34561969;34932366;35051231;35251023;35526384;35580925;36284347;40307207;9630229", "class_list": "", "function": "Binds specifically to cytosolic chaperonin (c-CPN) and transfers target proteins to it. Binds to nascent polypeptide chain and promotes folding in an environment in which there are many competing pathways for nonnative proteins., [UniProtKB, PubMed]; This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q9P0P7;Q9UN05", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding;GO:0001540 amyloid-beta binding;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0051495 positive regulation of cytoskeleton organization;GO:0050821 protein stabilization;GO:0006457 protein folding;GO:1905907 negative regulation of amyloid fibril formation", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "Q9UHV9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5E5-1", "uniprot_id": [ { "id": "PCDB4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5E5", "type": "external" } ], "mass": 87270.0, "length": 795, "protein_name": "Protocadherin beta-4", "gene_name": "PCDHB4", "organism": "Human", "refseq_name": "protocadherin beta-4 precursor", "refseq_ac": [ { "id": "NP_061761", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061761", "type": "external" } ], "gene_names_uniprotkb": "PCDHB4", "gene_names_refseq": "PCDH-BETA4; PCDHB4", "protein_names_uniprotkb": "Protocadherin beta-4; PCDH-beta-4", "protein_names_refseq": "protocadherin beta-4 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56131)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10380929;11322959;24715725;29557506;30429286;30620550;31154438;31848261;33592498;34509645;34932366;35051231", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 63, "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": "Q4V761", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007268 chemical synaptic transmission;GO:0007416 synapse assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9Y5E5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5F2-1", "uniprot_id": [ { "id": "PCDBB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5F2", "type": "external" } ], "mass": 87088.0, "length": 797, "protein_name": "Protocadherin beta-11", "gene_name": "PCDHB11", "organism": "Human", "refseq_name": "protocadherin beta-11 precursor", "refseq_ac": [ { "id": "NP_061754", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061754", "type": "external" } ], "gene_names_uniprotkb": "PCDHB11", "gene_names_refseq": "ME2; PCDH-BETA11; PCDHB11", "protein_names_uniprotkb": "Protocadherin beta-11; PCDH-beta-11", "protein_names_refseq": "PCDH-beta-11; cadherin ME2; protocadherin beta-11 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56125)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10380929;11322959;19054571;26598643;26811146;27068704;28411811;29741879;32161166;32938616;33592498;33968037;35051231", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; The brain-expressed protein with the highest number of human-specific substitutions is PCDHB11. In spite of its fast evolution and low intra-human variability, cell-based tests on the only proposed function for PCDHB11 did not indicate a functional change. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 50, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B4DSF7;Q2M223", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007268 chemical synaptic transmission;GO:0007416 synapse assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.0, "record_id": "Q9Y5F2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5F6-1", "uniprot_id": [ { "id": "PCDGM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5F6", "type": "external" } ], "mass": 101921.0, "length": 944, "protein_name": "Protocadherin gamma-C5", "gene_name": "PCDHGC5", "organism": "Human", "refseq_name": "protocadherin gamma-C5 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061752", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061752", "type": "external" } ], "gene_names_uniprotkb": "PCDHGC5", "gene_names_refseq": "PCDH-GAMMA-C5; PCDHGC5", "protein_names_uniprotkb": "Protocadherin gamma-C5; PCDH-gamma-C5", "protein_names_refseq": "protocadherin gamma-C5 isoform 1 precursor; protocadherin gamma-C5", "tax_id": 9606, "disease": "", "pathway": " (hsa:56097)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10380929;23481700;26811146;29557506;29632711;30568303;31154438;32357974;32938616;33592498;33968037;34087483;34405274;35051231;37074911;39894887", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 34, "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": "Q9Y5C2", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0050808 synapse organization;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9Y5F6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5F8-1", "uniprot_id": [ { "id": "PCDGJ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5F8", "type": "external" } ], "mass": 100974.0, "length": 929, "protein_name": "Protocadherin gamma-B7", "gene_name": "PCDHGB7", "organism": "Human", "refseq_name": "protocadherin gamma-B7 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061750", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061750", "type": "external" } ], "gene_names_uniprotkb": "PCDHGB7", "gene_names_refseq": "ME6; PCDH-GAMMA-B7; PCDHGB7", "protein_names_uniprotkb": "Protocadherin gamma-B7; PCDH-gamma-B7", "protein_names_refseq": "cadherin ME6; protocadherin gamma-B7 isoform 1 precursor; protocadherin gamma-B7", "tax_id": 9606, "disease": "", "pathway": " (hsa:56099)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "10380929;20112406;24190977;27846572;29557506;29741879;32938616;33592498;34185407;35051231;35154160;35580925;36241641", "class_list": "", "function": "Hypermethylated PCDHGB7 as a universal cancer only marker and its application in early cervical cancer screening., [RefSeq, PubMed]; Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 46, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q9UN63", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q9Y5F8-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5G1-1", "uniprot_id": [ { "id": "PCDGF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5G1", "type": "external" } ], "mass": 101204.0, "length": 929, "protein_name": "Protocadherin gamma-B3", "gene_name": "PCDHGB3", "organism": "Human", "refseq_name": "protocadherin gamma-B3 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061747", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061747", "type": "external" } ], "gene_names_uniprotkb": "PCDHGB3", "gene_names_refseq": "PCDH-GAMMA-B3; PCDHGB3", "protein_names_uniprotkb": "Protocadherin gamma-B3; PCDH-gamma-B3", "protein_names_refseq": "protocadherin gamma-B3 isoform 1 precursor; protocadherin gamma-B3", "tax_id": 9606, "disease": "", "pathway": " (hsa:56102)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "10380929;27472898;29314611;31530632;32350084;33968037;35051231;35154160;35251023;35561310", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; The extracellular EC1/EC4 interface comprises hydrophobic interactions that provide non-selective dimerization affinity. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 67, "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": "A7E229;Q9Y5C7", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9Y5G1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5G2-1", "uniprot_id": [ { "id": "PCDGE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5G2", "type": "external" } ], "mass": 100875.0, "length": 931, "protein_name": "Protocadherin gamma-B2", "gene_name": "PCDHGB2", "organism": "Human", "refseq_name": "protocadherin gamma-B2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061746", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061746", "type": "external" } ], "gene_names_uniprotkb": "PCDHGB2", "gene_names_refseq": "PCDH-GAMMA-B2; PCDHGB2", "protein_names_uniprotkb": "Protocadherin gamma-B2; PCDH-gamma-B2", "protein_names_refseq": "protocadherin gamma-B2 isoform 1 precursor; protocadherin gamma-B2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56103)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10380929;24190977;25645385;28218747;28228285;29314611;29557506;29741879;31154438;32157095;33912179;33936100;33968037;34087483;34357683;34932366;35051231;36241641;36581221", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [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": 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": 36, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q3MIJ3;Q9UN65", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q9Y5G2-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5G3-1", "uniprot_id": [ { "id": "PCDGD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5G3", "type": "external" } ], "mass": 100360.0, "length": 927, "protein_name": "Protocadherin gamma-B1", "gene_name": "PCDHGB1", "organism": "Human", "refseq_name": "protocadherin gamma-B1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061745", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061745", "type": "external" } ], "gene_names_uniprotkb": "PCDHGB1", "gene_names_refseq": "PCDH-GAMMA-B1; PCDHGB1", "protein_names_uniprotkb": "Protocadherin gamma-B1; PCDH-gamma-B1", "protein_names_refseq": "protocadherin gamma-B1 isoform 1 precursor; protocadherin gamma-B1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56104)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10380929;24190977;29242379;29557506;29741879;31844290;32157095;32350084;32938616;33392160;33592498;33691108;33968037;35051231;35154160;35229923;35251023;35561310;35580925;36010968", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]; Whole-Exome Sequencing Identified Rare Variants in PCDHGB1 in Patients with Adult-Onset 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": 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": 62, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q3SY75;Q9Y5C8", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0030426 growth cone", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9Y5G3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5H1-1", "uniprot_id": [ { "id": "PCDG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5H1", "type": "external" } ], "mass": 101484.0, "length": 932, "protein_name": "Protocadherin gamma-A2", "gene_name": "PCDHGA2", "organism": "Human", "refseq_name": "protocadherin gamma-A2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061738", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061738", "type": "external" } ], "gene_names_uniprotkb": "PCDHGA2", "gene_names_refseq": "PCDH-GAMMA-A2; PCDHGA2", "protein_names_uniprotkb": "Protocadherin gamma-A2; PCDH-gamma-A2", "protein_names_refseq": "protocadherin gamma-A2 isoform 1 precursor; protocadherin gamma-A2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56113)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10380929;20068231;25645385;26154972;27543614;27893789;29557506;31848261;32387766;32938616;33912179;33968037;34087483;34171305;35051231", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 70, "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": "Q52LL6;Q9Y5D5", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q9Y5H1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5H9-1", "uniprot_id": [ { "id": "PCDA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5H9", "type": "external" } ], "mass": 102063.0, "length": 948, "protein_name": "Protocadherin alpha-2", "gene_name": "PCDHA2", "organism": "Human", "refseq_name": "protocadherin alpha-2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061728", "type": "external" } ], "gene_names_uniprotkb": "PCDHA2", "gene_names_refseq": "PCDH-ALPHA2; PCDHA2", "protein_names_uniprotkb": "Protocadherin alpha-2; PCDH-alpha-2", "protein_names_refseq": "KIAA0345-like 12; protocadherin alpha-2 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56146)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10380929;12665801;28904123;29557506;31844290;32157095;32938616;33392160;33968037;34087483;34171305;35051231", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; Provides evidence for a 22 aa signal peptide., [RefSeq, PubMed]; This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 4, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 72, "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": "O75287;Q9BTV3", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9Y5H9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5I4-1", "uniprot_id": [ { "id": "PCDC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5I4", "type": "external" } ], "mass": 109450.0, "length": 1007, "protein_name": "Protocadherin alpha-C2", "gene_name": "PCDHAC2", "organism": "Human", "refseq_name": "protocadherin alpha-C2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_061722", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061722", "type": "external" } ], "gene_names_uniprotkb": "PCDHAC2", "gene_names_refseq": "PCDH-ALPHA-C2; PCDHAC2", "protein_names_uniprotkb": "Protocadherin alpha-C2; PCDH-alpha-C2", "protein_names_refseq": "protocadherin alpha-C2 isoform 1 precursor; protocadherin alpha-C2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56134)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "10380929;32387766;32938616;33912179;33981976;34357683;34509645;35051231;35580925", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]., [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": 0, "reported_glycation": 0, "reported_snv": 43, "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": "Q2M3V1;Q9Y5F4", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9Y5I4-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2A3N6-1", "uniprot_id": [ { "id": "PIPSL_HUMAN", "url": "https://www.uniprot.org/uniprot/A2A3N6", "type": "external" } ], "mass": 95048.0, "length": 862, "protein_name": "Putative PIP5K1A and PSMD4-like protein", "gene_name": "PIPSL", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PIPSL; PSMD4P2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative PIP5K1A and PSMD4-like protein; PIP5K1A-PSMD4", "protein_names_refseq": "", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": "", "pathway_count": 0, "publication_count": 48, "publication_id_list": "17623810;20305658;22424782;22898188;24366607;25505266;25576301;26024233;26154972;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29632046;29632711;29769354;29786170;30001391;30315122;30379171;30524438;31844290;32350084;32357974;32387766;32488085;32502341;33141586;33392160;33537174;34357683;35051231;37938771;40914422", "class_list": "", "function": "Has negligible PIP5 kinase activity. Binds to ubiquitinated proteins., [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": 0, "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": "Q6NUK8", "ec_number_list": [], "go_molecular_function": "GO:0016308 1-phosphatidylinositol-4-phosphate 5-kinase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0000502 proteasome complex", "go_biological_process": "GO:0051896 regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0046854 phosphatidylinositol phosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "A2A3N6-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D2B8-1", "uniprot_id": [ { "id": "PM2P1_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D2B8", "type": "external" } ], "mass": 47508.0, "length": 440, "protein_name": "Putative postmeiotic segregation increased 2-like protein 1", "gene_name": "PMS2P1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PMS2P1; PMS2L13; PMS2L1; PMS2L6; PMS2L8; PMS3; PMS8; PMSR2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative postmeiotic segregation increased 2-like protein 1; PMS2-related protein 2; Postmeiotic segregation increased 2-like protein 13; Postmeiotic segregation increased 2-like protein 6; Postmeiotic segregation increased 2-like protein 8; Postmeiotic segregation increased protein 3; Postmeiotic segregation increased protein 8; Putative postmeiotic segregation increased 2 pseudogene 1; hPMS3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "10101297;26811146;28904123;30484775;30833945;31844290;32357974;35051231;36215666;7980603;8586419", "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": "Q0VGD2;Q13400;Q16530;Q6NVZ2;Q7KZ90", "ec_number_list": [], "go_molecular_function": "GO:0016887 ATP hydrolysis activity;GO:0016301 kinase activity;GO:0140664 ATP-dependent DNA damage sensor activity", "go_cellular_component": "GO:0032300 mismatch repair complex", "go_biological_process": "GO:0006298 mismatch repair", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "A4D2B8-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MQ11-1", "uniprot_id": [ { "id": "PM2P5_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MQ11", "type": "external" } ], "mass": 15170.0, "length": 134, "protein_name": "Postmeiotic segregation increased 2-like protein 5", "gene_name": "PMS2P5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PMS2P5; PMS2L5; PMS4; PMS7", "gene_names_refseq": "", "protein_names_uniprotkb": "Postmeiotic segregation increased 2-like protein 5; Postmeiotic segregation increased protein 4; Postmeiotic segregation increased protein 7; Putative postmeiotic segregation increased 2 pseudogene 5", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "32561536;34087483;7980603", "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:0016887 ATP hydrolysis activity;GO:0140664 ATP-dependent DNA damage sensor activity", "go_cellular_component": "GO:0032300 mismatch repair complex", "go_biological_process": "GO:0006298 mismatch repair", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "A8MQ11-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P07738-1", "uniprot_id": [ { "id": "PMGE_HUMAN", "url": "https://www.uniprot.org/uniprot/P07738", "type": "external" } ], "mass": 30005.0, "length": 259, "protein_name": "Bisphosphoglycerate mutase", "gene_name": "BPGM", "organism": "Human", "refseq_name": "bisphosphoglycerate mutase", "refseq_ac": [ { "id": "NP_001280014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001280014", "type": "external" } ], "gene_names_uniprotkb": "BPGM", "gene_names_refseq": "BPGM; DPGM; ECYT8", "protein_names_uniprotkb": "Bisphosphoglycerate mutase; 2,3-bisphosphoglycerate mutase, erythrocyte; 2,3-bisphosphoglycerate synthase; 2,3-diphosphoglycerate mutase; 5.4.2.11; 5.4.2.4; BPG-dependent PGAM; BPGM; DPGM", "protein_names_refseq": "2,3-bisphosphoglycerate mutase, erythrocyte; 2,3-bisphosphoglycerate synthase; 2,3-diphosphoglycerate mutase; BPG-dependent PGAM; bisphosphoglycerate mutase; erythrocyte 2,3-bisphosphoglycerate mutase; testis secretory sperm-binding protein Li 202a", "tax_id": 9606, "disease": "familial erythrocytosis 8 (Disease Ontology:DOID:0111630)", "pathway": " (hsa:669); (R-HSA-70171)", "pathway_count": 2, "publication_count": 84, "publication_id_list": "10477269;10714828;11237011;11371164;11506403;11780755;12616532;1278465;12965206;13538944;1387804;1421379;15054810;152321;15258155;15710582;16246416;16511037;17052986;17804405;183598;1871135;18910716;18910717;18927083;21045285;22219026;23168256;23446454;24275569;2462567;25015942;2542247;25648650;2793178;2844822;2846554;28832583;28834231;29242379;2960695;29632711;3023066;3036106;30429286;30517626;31092671;3170585;31844290;3208766;32157095;32938616;3355497;34052998;3453121;34782236;35051231;3529090;36177683;4413246;4555506;4827367;5009693;5687724;6313356;6434534;6444721;6451249;6696436;6771269;7144574;7150652;7391027;7717389;7825568;7989588;8117307;8325892;8440681;8447317;8786021;9438414;9493266;9832630", "class_list": "", "function": "2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]., [RefSeq]; Dysregulation of bisphosphoglycerate mutase during in vitro maturation of oocytes., [RefSeq, PubMed]; Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review. Review article, [RefSeq, PubMed]; Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.11) activity., [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": 1, "reported_mutagensis": 0, "reported_glycation": 6, "reported_snv": 7, "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": "A4D1N9", "ec_number_list": [ { "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" } ], "go_molecular_function": "GO:0004082 bisphosphoglycerate mutase activity;GO:0004619 phosphoglycerate mutase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0007585 respiratory gaseous exchange by respiratory system;GO:0006096 glycolytic process;GO:1901136 carbohydrate derivative catabolic process", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "P07738-1", "record_type": "protein", "filter_code": "0000000.1010111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00625-1", "uniprot_id": [ { "id": "PIR_HUMAN", "url": "https://www.uniprot.org/uniprot/O00625", "type": "external" } ], "mass": 32113.0, "length": 290, "protein_name": "Pirin", "gene_name": "PIR", "organism": "Human", "refseq_name": "pirin", "refseq_ac": [ { "id": "NP_001018119", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001018119", "type": "external" } ], "gene_names_uniprotkb": "PIR", "gene_names_refseq": "PIR", "protein_names_uniprotkb": "Pirin; 1.13.11.24; Probable quercetin 2,3-dioxygenase PIR; Probable quercetinase", "protein_names_refseq": "pirin (iron-binding nuclear protein); pirin; probable quercetin 2,3-dioxygenase PIR; probable quercetinase", "tax_id": 9606, "disease": "cholangiocarcinoma (Disease Ontology:DOID:4947)", "pathway": " (hsa:8544); (R-HSA-8935690)", "pathway_count": 2, "publication_count": 43, "publication_id_list": "10362352;11123935;14573596;15951572;17288615;19766747;19960363;20010624;20068231;20089166;20711196;23269669;23481700;23716661;25576301;25645385;27600516;28825294;28904123;29242379;29557506;29786170;30444038;30833945;31500513;31844290;32157095;32161166;32387766;32488085;32938616;32983136;33373853;33389678;33592498;33717175;33912179;34357683;35051231;7902563;8095028;8390480;9079676", "class_list": "", "function": "Data suggest that only the Fe(III) form of pirin [not the Fe(II) form] enhances affinity of binding between p65 and DNA in the pirin-p65-DNA supramolecular complex. (pirin = quercetin 2,3-dioxygenase; p65 = RELA proto-oncogene NF-kappaB subunit), [RefSeq, PubMed]; MiR-455-5p/PIR axis contributed to cancer cell aggressiveness., [RefSeq, PubMed]; PIR promotes tumorigenesis of breast cancer by upregulating cell cycle activator E2F1., [RefSeq, PubMed]; PIWIL1 interacting RNA piR-017061 inhibits pancreatic cancer growth via regulating EFNA5., [RefSeq, PubMed]; Pirin is a nuclear redox-sensitive modulator of autophagy-dependent ferroptosis. Erratum:[Biochem Biophys Res Commun. 2025 Aug 15;775:152158. doi: 10.1016/j.bbrc.2025.152158. PMID: 40514260], [RefSeq, PubMed]; This gene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box transcription factor as well as B cell lymphoma 3-encoded oncoprotein suggest the encoded protein may act as a transcriptional cofactor and be involved in the regulation of DNA transcription and replication. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional coregulator of NF-kappa-B which facilitates binding of NF-kappa-B proteins to target kappa-B genes in a redox-state-dependent manner. May be required for efficient terminal myeloid maturation of hematopoietic cells. Has quercetin 2,3-dioxygenase activity (in vitro)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; X-ray crystallography of of human pirin shows that it is an iron-binding nuclear protein and transcription cofactor, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q5U0G0;Q6FHD2", "ec_number_list": [ { "id": "1.13.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.13.11.24", "type": "external" } ], "go_molecular_function": "GO:0008127 quercetin 2,3-dioxygenase activity;GO:0046872 metal ion binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016604 nuclear body", "go_biological_process": "GO:0007586 digestion;GO:0006366 transcription by RNA polymerase II;GO:0030224 monocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "O00625-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P08F94-1", "uniprot_id": [ { "id": "PKHD1_HUMAN", "url": "https://www.uniprot.org/uniprot/P08F94", "type": "external" } ], "mass": 446702.0, "length": 4074, "protein_name": "Fibrocystin", "gene_name": "PKHD1", "organism": "Human", "refseq_name": "fibrocystin isoform 1", "refseq_ac": [ { "id": "NP_619639", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_619639", "type": "external" } ], "gene_names_uniprotkb": "PKHD1; FCYT; TIGM1", "gene_names_refseq": "ARPKD; FCYT; FPC; PCYT; PKD4; PKHD1; TIGM1", "protein_names_uniprotkb": "Fibrocystin; Polycystic kidney and hepatic disease 1 protein; Polyductin; Tigmin", "protein_names_refseq": "PKHD1, fibrocystin/polyductin; TIG multiple domains 1; fibrocystin isoform 1; fibrocystin/polyductin complex; fibrocystin; polycystic kidney and hepatic disease 1 (autosomal recessive); polycystic kidney and hepatic disease 1 protein; polyductin; tigmin", "tax_id": 9606, "disease": "polycystic kidney disease 4 (Disease Ontology:DOID:0080212); Caroli syndrome (Disease Ontology:DOID:0081394); autosomal recessive polycystic kidney disease (Disease Ontology:DOID:0110861)", "pathway": " (hsa:5314)", "pathway_count": 1, "publication_count": 54, "publication_id_list": "10.1101/2023.09.13.557529;11898128;11919560;12079288;12506140;12846734;12874454;14978161;15108277;15108281;15458427;16243292;16677362;16956880;16959974;17470460;18235088;19914852;20554582;21274727;23481700;24715725;25645385;25701400;25892735;27397612;28375157;28832583;28904123;29557506;29769354;30779550;30898581;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32938616;33141586;33392160;34087483;34536170;34932366;35051231;35715958;37074911;38178618;38253038;38830515;39894887", "class_list": "", "function": "Characterization of mutation in autosomal recessive polycystic kidney disease, [RefSeq, PubMed]; Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes., [RefSeq, PubMed]; Comprehensive characterization of PKHD1 mutation in human colon cancer., [RefSeq, PubMed]; Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes., [RefSeq, PubMed]; PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats., [RefSeq, PubMed]; Promotes ciliogenesis in renal epithelial cells and therefore participates in the tubules formation and/ or ensures the maintenance of the architecture of the lumen of the kidney (By similarity). Has an impact on cellular symmetry by ensuring correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly and by maintaining oriented cell division (OCD) during tubular elongation through planar cell polarity (PCP) pathway (PubMed:20554582). During epithelial cell morphogenesis, it also regulates cell-cell and cell-matrix adhesion and participates in cell motility (By similarity). Promotes cell-cell contact through the positive regulation of PTK2 kinase activity leading to either positive regulation of epithelial cell proliferation through the HRAS/RAF1 pathways, or negative regulation of apoptosis through the PDK1/AKT1 pathway (By similarity). May act in collecting-duct and biliary differentiation (PubMed:11919560). May participate in the regulation of the cholangiocytes proliferation and the CCN2 production in an CXCL8-dependent manner (PubMed:30898581)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, UniProtKB]; Rare variants in PKHD1 associated with Caroli syndrome: Two case reports., [RefSeq, PubMed]; The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 56, "predicted_n_glycosites": 56, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 8, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "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": 321, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 9, "disease_count": 3, "glyco_site_count": 66, "binding_glycan_count": 0, "secondary_ac_list": "Q5VUA2;Q5VUA3;Q5VWV1;Q86Z26;Q8TCZ9", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005813 centrosome", "go_biological_process": "GO:0010824 regulation of centrosome duplication;GO:1904036 negative regulation of epithelial cell apoptotic process;GO:0008284 positive regulation of cell population proliferation;GO:0030155 regulation of cell adhesion;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "P08F94-1", "record_type": "protein", "filter_code": "0000000.1100111.001000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P13797-1", "uniprot_id": [ { "id": "PLST_HUMAN", "url": "https://www.uniprot.org/uniprot/P13797", "type": "external" } ], "mass": 70811.0, "length": 630, "protein_name": "Plastin-3", "gene_name": "PLS3", "organism": "Human", "refseq_name": "plastin-3 isoform 1", "refseq_ac": [ { "id": "NP_001129497", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129497", "type": "external" } ], "gene_names_uniprotkb": "PLS3", "gene_names_refseq": "BMND18; DIH5; PLS3; T-plastin", "protein_names_uniprotkb": "Plastin-3; T-fimbrin; T-plastin", "protein_names_refseq": "T fimbrin; T plastin; plastin-3 isoform 1", "tax_id": 9606, "disease": "osteoporosis (Disease Ontology:DOID:11476); Huntington's disease (Disease Ontology:DOID:12858); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); hernia, anterior diaphragmatic (MONDO:MONDO:0010606)", "pathway": " (hsa:5358)", "pathway_count": 1, "publication_count": 117, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16959974;17074750;17525332;18452278;18669648;19651622;20068231;21654843;21993680;22299025;22645359;23186163;23301498;23481700;2378651;24088043;24275569;24616189;24714562;24715725;25418920;25576301;25645385;25880248;25892735;26024233;26154972;26375851;26811146;26929215;26992070;27600516;27846572;27862975;27920218;28218747;28228285;28514659;28649982;28748388;28832583;28834231;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30484775;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;3211125;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32938616;33123756;33141586;33166085;33214551;33298915;33592498;33633747;33717175;33912179;33936100;33968037;34019948;34171305;34211107;34357683;34509645;34946798;35051231;35083852;35132862;35138101;35318648;35494241;35580925;36010968;36215666;36241641;36284347;37347555;37751738;37938771;38043102;38665916;38835117;39316135;40596516;8428952;9302997", "class_list": "", "function": "Actin-bundling protein., [UniProtKB, UniProtKB, UniProtKB]; Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene., [RefSeq, PubMed]; PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families., [RefSeq, PubMed]; PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects., [RefSeq, PubMed]; PLS3 promotes papillary thyroid carcinoma progression by activating the Notch signaling pathway. Erratum:[Environ Toxicol. 2024 Aug;39(8):4261. doi: 10.1002/tox.24288. PMID: 38659362], [RefSeq, PubMed]; Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). The C-terminal 570 amino acids of the T-plastin and L-plastin proteins are 83% identical. It contains a potential calcium-binding site near the N terminus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]., [RefSeq]; T-plastin contributes to epithelial-mesenchymal transition in human lung cancer cells through FAK/AKT/Slug axis 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": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 9, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8K579;B1AQ09;B4DGB4;B7Z6M1;Q86YI6", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding;GO:0005509 calcium ion binding;GO:0098699 structural constituent of presynaptic actin cytoskeleton", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005884 actin filament;GO:0031594 neuromuscular junction;GO:0032432 actin filament bundle", "go_biological_process": "GO:0051017 actin filament bundle assembly;GO:0060348 bone development;GO:0051639 actin filament network formation;GO:0098693 regulation of synaptic vesicle cycle", "synthesized_glycan_count": 0, "hit_score": 12.2, "record_id": "P13797-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P14859-1", "uniprot_id": [ { "id": "PO2F1_HUMAN", "url": "https://www.uniprot.org/uniprot/P14859", "type": "external" } ], "mass": 76472.0, "length": 743, "protein_name": "POU domain, class 2, transcription factor 1", "gene_name": "POU2F1", "organism": "Human", "refseq_name": "POU domain, class 2, transcription factor 1 isoform 2", "refseq_ac": [ { "id": "NP_001185712", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185712", "type": "external" } ], "gene_names_uniprotkb": "POU2F1; OCT1; OTF1", "gene_names_refseq": "OCT1; OTF1; Oct1Z; POU2F1; oct-1B", "protein_names_uniprotkb": "POU domain, class 2, transcription factor 1; NF-A1; OTF-1; Oct-1; Octamer-binding protein 1; Octamer-binding transcription factor 1", "protein_names_refseq": "NF-A1; OTF-1; Octamer-binding transcription factor-1; POU domain, class 2, transcription factor 1 isoform 2; POU domain, class 2, transcription factor 1; oct-1; octamer-binding protein 1; octamer-binding transcription factor 1", "tax_id": 9606, "disease": "immune system disease (Disease Ontology:DOID:2914)", "pathway": " (hsa:5451); (R-HSA-6785807); (R-HSA-6807505); (R-HSA-749476); (R-HSA-76071); (R-HSA-9018519); (R-HSA-9976102)", "pathway_count": 7, "publication_count": 352, "publication_id_list": "10022900;10023775;10219247;10369418;10421633;10480874;10500157;10510379;10586089;10629049;10828826;10867011;10873660;11010967;11034064;11056176;11058569;11084045;11103799;11104795;11120780;11136970;11165043;11237011;11278437;11278729;11345900;11356008;11404481;11410592;11452016;11463377;11463379;11581164;11682626;11856838;11960372;12223527;12242343;12414730;12498683;12574128;12600988;12612073;12663137;12826401;12832402;12959972;14612514;14631847;14634100;14675539;14701755;14712222;15001666;15116091;15261459;15276198;15282324;15343269;15345050;1535687;15514030;15584925;15805299;15869882;15950906;15986123;16007214;16009131;16046058;16048438;16087863;16107692;16113099;16205632;16236134;16239144;1630819;16308568;16397018;16451196;16510571;16540365;16606674;1684878;16901896;16959974;16964243;16980581;17013392;17213819;17277772;1739980;17427945;17458857;17463000;17495528;17510434;17537858;17572495;17637753;17666587;17690249;18079403;18187655;18219272;18243101;18256232;1829677;18322535;18353781;18358809;18447642;18476782;18533032;18644974;18669648;18762174;18805503;19001364;19020303;19098913;19124156;19185846;19274700;19295514;19321454;19383337;19397496;19667075;19718048;20219941;20220130;20305658;20457598;20493732;20498280;20570965;20682797;21102457;21106759;21151129;21252155;2125285;21445275;21573489;21689689;21730069;21740066;2181374;21835891;21878914;21897860;21934649;21937440;21940756;21994466;22046235;22056668;22137580;22205702;22231121;22252320;22265404;22383755;22441827;22492511;22544926;22545144;22693070;22704330;22706990;22851691;22923583;23086340;23124025;23145106;23166507;23172665;23172872;23186163;23192763;23301498;23303788;23403292;23435229;23455323;23481700;23555662;23580612;23723241;23906331;23932780;23967200;24097101;24097444;24167369;24270878;24371278;24735615;24743777;24854081;24885040;24973012;24997600;24998469;25234944;25296600;25365482;25418920;25433557;25542856;25633194;25645385;25663755;25674852;25675981;25728767;25892735;26056233;26153859;26204489;26462610;26479350;26811146;26929215;26992070;27062924;27407111;27655845;27886276;28218747;28228285;28510447;28539435;28832583;28834231;2905684;2919170;29237092;29242379;29351928;29393594;29437277;2944599;29493099;29632046;29786170;30059200;30379171;30397120;3045126;30620550;31217245;31492838;31637018;31844290;32119511;32350084;32387766;32488085;3281094;32897882;32938616;32938750;33214551;33298915;33691108;33968037;34019948;34171305;34509645;34846842;3498214;35051231;35132862;35138101;35251023;35254053;35289036;35580925;35705054;35955563;36084669;36457269;3677090;37340703;37381986;37541260;38254723;38665916;38838015;39531497;39534244;40307207;40596516;40914422;7510216;7512451;7529288;7559524;7663141;7715707;7795521;7796300;7859290;7891697;7898939;7907877;7935485;7937828;8085155;8156594;8195246;8197458;8253082;8339931;8419924;8462099;8479524;8602263;8621622;8628262;8663118;8668165;8668525;8797861;8816495;8876171;9003788;9009278;9013879;9153304;9188510;9201922;9234698;9338790;9368058;9388265;9407024;9418884;9611253;9651359;9671459;9705341;9723655;9731700;9736340;9822675;9832505;9874564", "class_list": "", "function": "(Microbial infection) In case of human herpes simplex virus (HSV) infection, POU2F1 forms a multiprotein-DNA complex with the viral transactivator protein VP16 and HCFC1 thereby enabling the transcription of the viral immediate early genes., [UniProtKB, PubMed]; Ang II Promotes ET-1 Production by Regulating NOX2 Activity Through Transcription Factor Oct-1., [RefSeq, PubMed]; LncRNA AC026401.3 interacts with OCT1 to intensify sorafenib and lenvatinib resistance by activating E2F2 signaling in hepatocellular carcinoma., [RefSeq, PubMed]; Substrates of the Human Brain Proton-Organic Cation Antiporter and Comparison with Organic Cation Transporter 1 Activities. Publication Status: Online-Only, [RefSeq, PubMed]; The OCT1 transcription factor was among the first identified members of the POU transcription factor family (summarized by Sturm et al., 1993 [PubMed 8314572]). Members of this family contain the POU domain, a 160-amino acid region necessary for DNA binding to the octameric sequence ATGCAAAT.[supplied by OMIM, Jul 2010]., [RefSeq]; Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3') and activates the promoters of the genes for some small nuclear RNAs (snRNA) and of genes such as those for histone H2B and immunoglobulins. Modulates transcription transactivation by NR3C1, AR and PGR., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Transcriptional Coactivator BOB1 (OBF1, OCA-B) Modulates the Specificity of DNA Recognition by the POU-Domain Factors OCT1 and OCT2 in a Monomeric Configuration. Publication Status: Online-Only, [RefSeq, PubMed]; Upregulation of IL-8, osteonectin, and myonectin mRNAs by intermittent hypoxia via OCT1- and NRF2-mediated mechanisms in skeletal muscle cells., [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": 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": 20, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 20, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 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": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "B1AL91;B1AL93;B4E029;J3KP77;Q5TBT7;Q6PK46;Q8NEU9;Q9BPV1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0042802 identical protein binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000979 RNA polymerase II core promoter 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:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription;GO:1902895 positive regulation of miRNA transcription", "synthesized_glycan_count": 0, "hit_score": 37.5, "record_id": "P14859-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100010000001.010.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P80108-1", "uniprot_id": [ { "id": "PHLD_HUMAN", "url": "https://www.uniprot.org/uniprot/P80108", "type": "external" } ], "mass": 92336.0, "length": 840, "protein_name": "Phosphatidylinositol-glycan-specific phospholipase D", "gene_name": "GPLD1", "organism": "Human", "refseq_name": "phosphatidylinositol-glycan-specific phospholipase D precursor", "refseq_ac": [ { "id": "NP_001494", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001494", "type": "external" } ], "gene_names_uniprotkb": "GPLD1; PIGPLD1", "gene_names_refseq": "GPIPLDM; GPIPLD; GPLD1; PIGPLD1; PIGPLD; PLD", "protein_names_uniprotkb": "Phosphatidylinositol-glycan-specific phospholipase D; 3.1.4.50; GPI-PLD; GPI-specific phospholipase D; Glycoprotein phospholipase D; Glycosyl-phosphatidylinositol-specific phospholipase D; PI-G PLD", "protein_names_refseq": "GPI-PLD; GPI-specific phospholipase D; PI-G PLD; glycoprotein phospholipase D; phosphatidylinositol-glycan-specific phospholipase D precursor; phosphatidylinositol-glycan-specific phospholipase D", "tax_id": 9606, "disease": "", "pathway": " (hsa:2822); (R-HSA-163125)", "pathway_count": 2, "publication_count": 34, "publication_id_list": "10.1101/2023.09.13.557529;11072085;1606959;16335952;17720976;19159218;23090970;23481700;24190977;2443973;26992070;27344311;2760042;27862975;28063628;28780751;29391424;29393594;29632046;29671580;29741879;30457913;31154438;32350084;32387766;33141586;3422494;34357683;34509645;34944458;35051231;37074911;37393554;8922363", "class_list": "glycogene", "function": "Computational study suggests that although curcumin to some extent binds with Tp receptor, yet the inhibition of Arf6GDP to Arf6GTP conversion appeared to be an important mechanism by which curcumin inhibits U46619-induced increase in PLD activity in PASMCs., [RefSeq, PubMed]; Hydrolyzes the inositol phosphate linkage of glycosylphosphatidylinositol (GPI)-anchored membrane proteins, thereby releasing them from the cell surface. Cleaves on the inositol side of the anchor, leaving the phosphate group attached to the membrane (PubMed:17720976, PubMed:2760042). This release of GPI-anchored proteins can modulate diverse biological processes, including the activation of signaling pathways (PubMed:17720976)., [UniProtKB, PubMed, PubMed]; Many proteins are tethered to the extracellular face of eukaryotic plasma membranes by a glycosylphosphatidylinositol (GPI) anchor. The GPI-anchor is a glycolipid found on many blood cells. The protein encoded by this gene is a GPI degrading enzyme. Glycosylphosphatidylinositol specific phospholipase D1 hydrolyzes the inositol phosphate linkage in proteins anchored by phosphatidylinositol glycans, thereby releasing the attached protein from the plasma membrane. [provided by RefSeq, Jul 2008]., [RefSeq]; RalA, PLD and mTORC1 Are Required for Kinase-Independent Pathways in DGKbeta-Induced Neurite Outgrowth. Publication Status: Online-Only, [RefSeq, PubMed]; Serum GPI-PLD in the NAFLD (+) group was significantly higher than in the NAFLD (-) group in men with metabolic syndrome., [RefSeq, PubMed]; Study discovered novel and independent associations of prediabetes and related traits with MASP1, and some evidence for associations with THBS1, GPLD1 and ApoA-IV, suggesting a role for these proteins in the pathophysiology of type 2 diabetes., [RefSeq, PubMed]; The role of GPLD1 in chronic diseases. Review article, [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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 1161, "reported_interactions": 0, "missing_score": 8621, "biomarker_type": "", "glycan_count": 39, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q15127;Q15128;Q2M2F2;Q5T3Y0;Q7Z6T8;Q8TCV0;Q8WW82;Q96ID6;Q9H167;Q9H4M1;Q9UJC9", "ec_number_list": [ { "id": "3.4.11.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.9", "type": "external" }, { "id": "3.5.1.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.92", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "3.4.17.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.12", "type": "external" }, { "id": "3.1.4.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.50", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.4.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.31", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" } ], "go_molecular_function": "GO:0004630 phospholipase D activity;GO:0004621 glycosylphosphatidylinositol phospholipase D activity;GO:0017080 sodium channel regulator activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0031012 extracellular matrix;GO:0070062 extracellular exosome", "go_biological_process": "GO:0002430 complement receptor mediated signaling pathway;GO:0097241 hematopoietic stem cell migration to bone marrow;GO:0071401 cellular response to triglyceride;GO:1900076 regulation of cellular response to insulin stimulus;GO:0006629 lipid metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "P80108-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12796-1", "uniprot_id": [ { "id": "PNRC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12796", "type": "external" } ], "mass": 35225.0, "length": 327, "protein_name": "Proline-rich nuclear receptor coactivator 1", "gene_name": "PNRC1", "organism": "Human", "refseq_name": "proline-rich nuclear receptor coactivator 1", "refseq_ac": [ { "id": "NP_006804", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006804", "type": "external" } ], "gene_names_uniprotkb": "PNRC1; PROL2", "gene_names_refseq": "B4-2; PNAS-145; PNRC1; PROL2; PRR2", "protein_names_uniprotkb": "Proline-rich nuclear receptor coactivator 1; Proline-rich protein 2; Protein B4-2", "protein_names_refseq": "proline rich 2 protein; proline-rich nuclear receptor coactivator 1; proline-rich polypeptide 2; proline-rich protein 2; proline-rich protein with nuclear targeting signal; protein B4-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10957)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "10.1038/emboj.2013.79;10894149;11574675;18281297;18703122;19334528;23481700;23584533;24715725;25505266;25576301;25880248;25892735;26154972;26992070;27397612;27600516;27846572;27862975;28228285;28832583;28904123;29242379;29493099;29508533;29557506;29632711;29786170;30315122;30373810;30429286;30524438;30833945;31154438;31844290;31848261;31998317;32157095;32161166;32357974;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33633747;33691108;33936100;33968037;34087483;34171305;34433824;34825000;34932366;35051231;35154160;35318648;35580925;36010968;36284347;37938771;7578250", "class_list": "", "function": "Functional analysis of the 5' flanking region of the human PNRC gene by deletion mutagenesis, transient transfection and luciferase assays revealed that the -123/+27 region is the minimal promoter of the human PNRC gene., [RefSeq, PubMed]; MiR-199a Targeting PNRC1 to Promote Keratinocyte Proliferation and Invasion in Cholesteatoma. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear receptor coactivator. May play a role in signal transduction., [UniProtKB, PubMed]; PNRC1 ablates the enhanced proliferation triggered by established oncogenes such as RAS and MYC These observations uncover a previously undescribed mechanism of tumor suppression, whereby the cytoplasmic decapping machinery is hauled within nucleoli, tightly regulating ribosomal RNA maturation., [RefSeq, PubMed]; RFX1 specifically bind to promoter region and negatively regulate the transcription of the human PNRC gene., [RefSeq, PubMed]; Three human PNRC splicing variants designated PNRC1c, PNRC1d and PNRC1f, are identified., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2R6Q0;E1P515;Q5T7J6;Q7Z5N0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0016071 mRNA metabolic process;GO:0006351 DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q12796-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q12837-1", "uniprot_id": [ { "id": "PO4F2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q12837", "type": "external" } ], "mass": 43087.0, "length": 409, "protein_name": "POU domain, class 4, transcription factor 2", "gene_name": "POU4F2", "organism": "Human", "refseq_name": "POU domain, class 4, transcription factor 2", "refseq_ac": [ { "id": "NP_004566", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004566", "type": "external" } ], "gene_names_uniprotkb": "POU4F2; BRN3B", "gene_names_refseq": "BRN3.2; BRN3B; Brn-3b; POU4F2", "protein_names_uniprotkb": "POU domain, class 4, transcription factor 2; Brain-3B; Brain-specific homeobox/POU domain protein 3B; Brn-3B", "protein_names_refseq": "Brn3b POU domain transcription factor; POU domain protein; POU domain, class 4, transcription factor 2; brain-3B; brain-specific homeobox/POU domain protein 3B", "tax_id": 9606, "disease": "", "pathway": " (hsa:5458); (R-HSA-6804759)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10.1074/mcp.M114.046862;10329733;11526481;11684014;12203124;12494467;12524540;14729977;15598651;16382142;17145718;17719541;18275817;18676979;19266028;19303885;20075864;22538442;22864287;22975685;23805044;24714389;25356872;25482012;25813380;26700620;28411811;32597291;35051231;7691107;8234287;8332509", "class_list": "", "function": "DNA methylation in a combination of POU4F2/PCDH17 has yielded the highest sensitivity and specificity of 90.00% and 93.96% in all the 312 individuals, showing the capability of detecting bladder cancer effectively among pathologically varied sample groups., [RefSeq, PubMed]; No association between POU4F1, POU4F2, ISL1 polymorphisms and normal-tension glaucoma., [RefSeq, PubMed]; The genes BCL6, NFE2, POU4F2 and ELF4 are primary 1,25(OH)2D3 targets in THP-1 cells, [RefSeq, PubMed]; The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011]., [RefSeq]; Tissue-specific DNA-binding transcription factor involved in the development and differentiation of target cells (PubMed:19266028, PubMed:23805044). Functions either as activator or repressor modulating the rate of target gene transcription through RNA polymerase II enzyme in a promoter-dependent manner (PubMed:19266028, PubMed:23805044). Binds to the consensus octamer motif 5'-AT[A/T]A[T/A]T[A/T]A-3' of promoter of target genes. Plays a fundamental role in the gene regulatory network essential for retinal ganglion cell (RGC) differentiation. Binds to an octamer site to form a ternary complex with ISL1; cooperates positively with ISL1 and ISL2 to potentiate transcriptional activation of RGC target genes being involved in RGC fate commitment in the developing retina and RGC axon formation and pathfinding. Inhibits DLX1 and DLX2 transcriptional activities preventing DLX1- and DLX2-mediated ability to promote amacrine cell fate specification. In cooperation with TP53 potentiates transcriptional activation of BAX promoter activity increasing neuronal cell apoptosis. Negatively regulates BAX promoter activity in the absence of TP53. Acts as a transcriptional coactivator via its interaction with the transcription factor ESR1 by enhancing its effect on estrogen response element (ERE)-containing promoter. Antagonizes the transcriptional stimulatory activity of POU4F1 by preventing its binding to an octamer motif. Involved in TNFSF11-mediated terminal osteoclast differentiation (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": 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": 1, "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": "B1PJR6;B2RC84;Q13883;Q14987", "ec_number_list": [], "go_molecular_function": "GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0002039 p53 binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0005667 transcription regulator complex", "go_biological_process": "GO:1902870 negative regulation of amacrine cell differentiation;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007507 heart development", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q12837-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P84103-1", "uniprot_id": [ { "id": "SRSF3_HUMAN", "url": "https://www.uniprot.org/uniprot/P84103", "type": "external" } ], "mass": 19330.0, "length": 164, "protein_name": "Serine/arginine-rich splicing factor 3", "gene_name": "SRSF3", "organism": "Human", "refseq_name": "serine/arginine-rich splicing factor 3", "refseq_ac": [ { "id": "NP_003008", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003008", "type": "external" } ], "gene_names_uniprotkb": "SRSF3; SFRS3; SRP20", "gene_names_refseq": "SFRS3; SRSF3; SRp20", "protein_names_uniprotkb": "Serine/arginine-rich splicing factor 3; Pre-mRNA-splicing factor SRP20; Splicing factor, arginine/serine-rich 3", "protein_names_refseq": "epididymis secretory sperm binding protein; pre-mRNA splicing factor SRp20; pre-mRNA-splicing factor SRP20; serine/arginine-rich splicing factor 3; splicing factor, arginine/serine-rich 3; splicing factor, arginine/serine-rich, 20-kD", "tax_id": 9606, "disease": "ovary epithelial cancer (Disease Ontology:DOID:2152); bipolar disorder (Disease Ontology:DOID:3312)", "pathway": " (hsa:6428); (R-HSA-159236); (R-HSA-72163); (R-HSA-72187); (R-HSA-72203); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 7, "publication_count": 265, "publication_id_list": "10.1101/2023.09.13.557529;10228171;10323864;10489353;10668806;10669729;10757789;10882114;11014198;11060040;11073998;11101529;11233976;11237011;11256625;11259411;11259602;11336712;11579093;11739738;11747608;11756420;11979277;11991638;12093754;12176931;12411573;12414731;12477934;12667464;12871933;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15169763;15565158;15595951;1577277;15998806;16314397;16314458;16809785;17000901;17036044;17081983;17095540;17128255;17190602;17332742;17606899;17924679;17984224;18288197;18322460;18364396;18411249;18423201;18593880;18669648;18957205;19103666;19165350;19217410;19413330;19536130;19608861;19651622;19836239;20068230;20068231;20129943;20423332;20573985;20695905;20844015;20980672;21295486;21536652;2176635;21872626;21911577;21947206;21993680;22110043;22121020;22207203;22365833;22813749;22893130;22928037;22959432;22961380;23186163;23222130;23236153;23299939;23301498;23345524;23481700;23826332;23874216;24076191;24149845;24196718;24244187;24304693;24316715;24407421;24448447;24714562;24737827;24914973;24981863;25301780;25301781;25418920;25469497;25555158;25576301;2558966;25645385;25662211;25836925;25880248;26092250;26154972;26375851;26385511;26420826;26728094;26876937;26929215;26969736;26992070;27108190;27377154;27452731;27459055;27600516;27683217;27846572;27862975;27920218;28062851;28063628;28076346;28096519;28218747;28228285;28502770;28781166;28832583;28834231;28855257;28904123;28911096;28984244;29186539;29242379;29274231;29301961;29360106;29361316;29393594;29493099;29508533;29557506;29632046;29632711;2963332;29786170;29789417;29902443;30139799;30257008;30315122;30315277;30429286;30599162;30705154;30728453;30765414;30779550;30975767;31154438;31217245;31222486;31409651;31530632;31844290;31848261;31998317;32119511;32157095;32179686;32265295;32329775;32350084;32357974;32387766;32440474;32494006;32502341;32816001;32870666;32897882;32938616;32983136;33123756;33177556;33214551;33243851;33446560;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34301950;34725712;34822310;34932366;35051231;35083852;35177536;35215846;35251023;35385551;35580925;36010968;36241641;36284347;37074911;37217939;3757028;37938771;38456794;38665916;38781195;38909100;39222664;8352591;8566756;8608946;9016565;9242493;9409616;9512519;9524131;9539711;9618489;9659921;9660949;9671485;9701291;9731529", "class_list": "", "function": "Factors affecting the expression and stability of full-length and truncated SRSF3 proteins in human cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; Intronic miR-6741-3p targets the oncogene SRSF3: Implications for oral squamous cell carcinoma pathogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Restoring SRSF3 in Kupffer cells attenuates obesity-related insulin resistance., [RefSeq, PubMed]; SRSF3 suppresses RCC tumorigenesis and progression via regulating SP4 alternative splicing., [RefSeq, PubMed]; Splicing factor, which binds the consensus motif 5'-C[ACU][AU]C[ACU][AC]C-3' within pre-mRNA and promotes specific exons inclusion during alternative splicing (PubMed:17036044, PubMed:26876937, PubMed:32440474). Interaction with YTHDC1, a RNA-binding protein that recognizes and binds N6-methyladenosine (m6A)-containing RNAs, promotes recruitment of SRSF3 to its mRNA-binding elements adjacent to m6A sites within exons (PubMed:26876937). Also functions as an adapter involved in mRNA nuclear export (PubMed:11336712, PubMed:18364396, PubMed:28984244). Binds mRNA which is thought to be transferred to the NXF1-NXT1 heterodimer for export (TAP/NXF1 pathway); enhances NXF1-NXT1 RNA-binding activity (PubMed:11336712, PubMed:18364396). Involved in nuclear export of m6A-containing mRNAs via interaction with YTHDC1: interaction with YTHDC1 facilitates m6A-containing mRNA-binding to both SRSF3 and NXF1, promoting mRNA nuclear export (PubMed:28984244)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants, one protein-coding and the other non-coding, have been found for this gene. [provided by RefSeq, Sep 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 3, "reported_glycation": 0, "reported_snv": 4, "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": "B4E241;O08831;P23152;Q5R3K0", "ec_number_list": [], "go_molecular_function": "GO:1990825 sequence-specific mRNA binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0043274 phospholipase binding;GO:0070878 primary miRNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0006397 mRNA processing;GO:0006406 mRNA export from nucleus;GO:0008380 RNA splicing;GO:0048024 regulation of mRNA splicing, via spliceosome;GO:0031053 primary miRNA processing", "synthesized_glycan_count": 0, "hit_score": 27.0, "record_id": "P84103-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVM7-1", "uniprot_id": [ { "id": "STAG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVM7", "type": "external" } ], "mass": 144427.0, "length": 1258, "protein_name": "Cohesin subunit SA-1", "gene_name": "STAG1", "organism": "Human", "refseq_name": "cohesin subunit SA-1", "refseq_ac": [ { "id": "NP_005853", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005853", "type": "external" } ], "gene_names_uniprotkb": "STAG1; SA1; SCC3", "gene_names_refseq": "MRD47; SA1; SCC3A; STAG1", "protein_names_uniprotkb": "Cohesin subunit SA-1; SCC3 homolog 1; Stromal antigen 1", "protein_names_refseq": "SCC3 homolog 1; cohesin subunit SA-1; nuclear protein stromal antigen 1; sister chromatid cohesion 3 homolog A", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 47 (Disease Ontology:DOID:0080238)", "pathway": " (hsa:10274); (R-HSA-1221632); (R-HSA-2467813); (R-HSA-2468052); (R-HSA-2470946); (R-HSA-2500257); (R-HSA-3108214); (R-HSA-9018519)", "pathway_count": 8, "publication_count": 288, "publication_id_list": "10.1101/2023.09.13.557529;10411507;10500157;10574707;10828826;10873660;11010967;11034064;11076961;11081627;11103799;11136970;11165043;11237011;11345900;11371342;11410592;11452016;11509732;11581164;11673449;11682626;11792325;11889051;12194817;12498683;12612073;12959972;14631847;14675539;14730319;15001666;15125634;15175327;15235794;15276198;15282324;15339662;15343269;15345050;15355988;15361841;15514030;15608651;15723797;15737063;15821733;15823533;15829507;15837422;15940266;15958495;15959518;15986123;16009131;16030353;16046058;16087863;16113099;1630819;16478998;16541025;16608850;16626738;16682347;16688858;16810316;16980581;17013392;17112726;17113138;17277772;17463000;17495528;17510434;17637753;17666587;17690249;17693435;18097444;18187655;18219272;18256232;18322535;18358809;18411254;18452278;18476782;18533032;18614053;18625722;18669648;18691969;18708356;18716626;18762174;18805503;19001364;19020303;19098913;19146767;19274700;19287951;19295514;19321454;19383337;19596686;19622798;19690332;19696148;19706679;19718048;19779455;19956565;19965387;20016594;20016603;20068231;20190268;20219941;20220130;20498280;20570965;20634189;20682797;20705237;21098080;21106759;21111234;21147198;21151129;21284855;21445275;21550342;21573489;2181374;21835891;21878504;21878914;21934649;21940756;21987589;22056668;22101327;22265404;22492511;22508508;22545144;22628566;22635276;22661230;22704330;22751501;22885700;23145106;23172872;23186163;23192763;23303788;23403292;23435229;23723241;23750026;23871147;23906331;24027577;24167369;24371278;24715725;24735615;24782567;24854081;24885040;24973012;24998469;25114211;25218447;25296600;25365482;25433557;25542856;25576301;25633194;25645385;25663755;25674852;25728767;26056233;26153859;26154972;26204489;26462610;26479350;26992070;27062924;27846572;27862975;27886276;27920218;28119487;28228285;28514659;28539435;28832583;28834231;28904123;2919170;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30059200;30158690;30315122;30410026;3045126;30484775;31154438;31217245;31844290;31848261;32157095;32161166;32387766;32409525;32488085;32502341;3281094;32897882;32938616;32983136;33298915;33633747;33691108;33717175;33912179;33936100;33968037;34171305;34211107;34260926;34405274;34509645;34561969;34648034;34932366;3498214;35051231;35318648;35580925;35654786;36010968;36241641;36284347;36581221;3677090;36898992;38742641;39894887;7559524;7935485;7937828;8195246;8197458;8291532;8419924;8794855;8876171;9008167;9201922;9285814;9305759;9338790;9388265;9412458;9452416;9611253;9649503;9671459;9731700;9756909;9885291;9892021", "class_list": "", "function": "Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis., [UniProtKB]; Different NIPBL requirements of cohesin-STAG1 and cohesin-STAG2. Publication Status: Online-Only, [RefSeq, PubMed]; Potential role of STAG1 mutations in genetic predisposition to childhood hematological malignancies. Publication Status: Online-Only, [RefSeq, PubMed]; STAG1, a novel transcriptional target for p53, mediates p53-dependent apoptosis, and might be a good candidate for next-generation gene therapy in cancer., [RefSeq, PubMed]; STAG2 loss-of-function affects short-range genomic contacts and modulates the basal-luminal transcriptional program of bladder cancer cells., [RefSeq, PubMed]; Single-molecule imaging reveals a direct role of CTCF's zinc fingers in SA interaction and cluster-dependent RNA recruitment., [RefSeq, PubMed]; This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [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": 14, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "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": "O00539;Q6P275", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0016604 nuclear body;GO:0000775 chromosome, centromeric region", "go_biological_process": "GO:0051301 cell division;GO:0090307 mitotic spindle assembly;GO:0034087 establishment of mitotic sister chromatid cohesion;GO:0007062 sister chromatid cohesion", "synthesized_glycan_count": 0, "hit_score": 29.3, "record_id": "Q8WVM7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43119-1", "uniprot_id": [ { "id": "PI2R_HUMAN", "url": "https://www.uniprot.org/uniprot/P43119", "type": "external" } ], "mass": 40956.0, "length": 386, "protein_name": "Prostacyclin receptor", "gene_name": "PTGIR", "organism": "Human", "refseq_name": "prostacyclin receptor", "refseq_ac": [ { "id": "NP_000951", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000951", "type": "external" } ], "gene_names_uniprotkb": "PTGIR; PRIPR", "gene_names_refseq": "IP; PRIPR; PTGIR", "protein_names_uniprotkb": "Prostacyclin receptor; PGI receptor; PGI2 receptor; Prostaglandin I2 receptor; Prostanoid IP receptor", "protein_names_refseq": "PGI receptor; PGI2 receptor; prostacyclin receptor; prostaglandin I2 (prostacyclin) receptor (IP); prostanoid IP receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:5739); (R-HSA-391908); (R-HSA-392851); (R-HSA-418555)", "pathway_count": 4, "publication_count": 98, "publication_id_list": "10036181;10634944;11007482;11237011;11502878;11740958;11895442;12036966;12058044;12106601;12180353;12222762;12446735;12466225;12488443;12519077;12860470;13549488;14671004;1517224;15194446;15464062;15765929;15769620;15951850;15980156;16313925;16460020;16687412;16923326;17168849;17545310;18044684;18577758;19105585;19876791;19929708;20381629;21036126;2163110;2171039;22480736;2417744;24687066;2474350;2491850;2553411;2553705;26154972;26417854;26868296;27365208;27862975;2871555;28739266;29443750;29557506;29602314;30833991;3127824;31279028;31399091;3141418;31844290;31983287;32226383;32497535;32531060;32540603;32618402;32715661;32983136;33049737;33298915;33717175;35051231;36284347;6085243;7512962;7514139;7532011;7642548;7665161;7883006;7923647;8078484;8117308;8163486;8253813;8300593;8340388;8514797;8672451;9263355;9417641;9462300;9651336;9722557", "class_list": "", "function": "Data (including data from studies using transgenic mice, an murine experimental model of diabetes, and mouse/human cell lines) suggest prostaglandin I2 receptor (PTGIR) is involved in insulin secretion in pancreatic beta-cells and in permselectivity in glomerular podocytes; the mechanism appears to involve regulation of post-translational phosphorylation of nephrin., [RefSeq, PubMed]; Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia., [RefSeq, PubMed]; Receptor for prostacyclin (prostaglandin I2 or PGI2). The activity of this receptor is mediated by G(s) proteins which activate adenylate cyclase., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The human prostacyclin receptor gene is under the transcriptional regulation of dihydrotestosterone, where this regulation is further influenced by serum-cholesterol levels., [RefSeq, PubMed]; The protein encoded by this gene is a member of the G-protein coupled receptor family 1 and has been shown to be a receptor for prostacyclin. Prostacyclin, the major product of cyclooxygenase in macrovascular endothelium, elicits a potent vasodilation and inhibition of platelet aggregation through binding to this receptor. [provided by RefSeq, Jul 2008]., [RefSeq]; These studies are not only the first to identify alpha4 helix of Rab11a as a protein binding domain on the GTPase but also reveal novel mechanistic insights into the intracellular trafficking of the human prostacyclin receptor (hIP), and potentially of other members of the GPCR superfamily, involving Rab11-dependent mechanisms., [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": 2, "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": 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": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0016501 prostacyclin receptor activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006954 inflammatory response;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0007267 cell-cell signaling;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "P43119-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000110000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62277-1", "uniprot_id": [ { "id": "RS13_HUMAN", "url": "https://www.uniprot.org/uniprot/P62277", "type": "external" } ], "mass": 17222.0, "length": 151, "protein_name": "Small ribosomal subunit protein uS15", "gene_name": "RPS13", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS15", "refseq_ac": [ { "id": "NP_001008", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008", "type": "external" } ], "gene_names_uniprotkb": "RPS13", "gene_names_refseq": "RPS13; S13; uS15", "protein_names_uniprotkb": "Small ribosomal subunit protein uS15; 40S ribosomal protein S13", "protein_names_refseq": "40S ribosomal protein S13; small ribosomal subunit protein uS15", "tax_id": 9606, "disease": "intrinsic cardiomyopathy (Disease Ontology:DOID:0060036)", "pathway": " (hsa:6207); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 311, "publication_id_list": "10358005;10364207;10659855;1095581;10958351;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14742663;14973490;15034551;15317934;15385533;15534230;15546618;15592455;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17081983;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;18566446;1861871;18657639;18691976;18974281;19060897;19106111;19117535;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19691289;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;21654843;22072790;22121020;22174690;22190735;22195017;22645359;22855488;22916032;23035226;23085078;23186163;23217742;23234702;23269699;23439679;23482395;23636399;23746841;2388630;24029068;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25432065;25525153;25576301;25645385;25810538;25880248;25969445;26024233;26154972;26237581;26375851;26728094;26758079;26768311;26811146;26992070;27452731;27526673;27543614;27600516;27846572;27862975;27920218;28063628;28065601;28132843;28446606;28649982;28685749;28832583;28855257;28904123;29242379;29314611;29331515;29393594;29413899;29493099;29508533;29557506;29632046;29632711;29786170;29789417;29930882;30293783;30315122;30429286;30573663;30779550;30804176;30833945;31020640;31154438;31217245;31222486;31530632;31611695;31844290;31848261;32099016;32157095;32161166;32265295;32350084;32357974;32387766;32502341;32522876;32579943;32680882;32897882;32908316;32938616;32983136;32995776;32995777;33043033;33080218;33123756;33188728;33214551;33268501;33298915;33392160;33479166;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34315815;34357683;34373319;34509645;34516797;34561969;34624207;34657252;34725712;34932366;35051231;35138101;35154160;35251023;35318648;35561310;35580925;36215666;36241641;36284347;36302773;36610391;36638793;37217939;37938771;38665916;39395807;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8332508;8336711;8407925;8706699;8890909;8920921;8943342;9045610;9211906;9431993;9482744;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; RPS13, a potential universal reference gene for normalisation of gene expression in multiple human normal and cancer tissue samples., [RefSeq, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S15P family of ribosomal proteins. It is located in the cytoplasm. The protein has been shown to bind to the 5.8S rRNA in rat. The gene product of the E. coli ortholog (ribosomal protein S15) functions at early steps in ribosome assembly. This gene is co-transcribed with two U14 small nucleolar RNA genes, which are located in its third and fifth introns. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 3, "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": "B2R549;P19116;Q02546;Q29200;Q498Y0", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0048027 mRNA 5'-UTR binding;GO:0003735 structural constituent of ribosome;GO:0070181 small ribosomal subunit rRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006412 translation;GO:0033119 negative regulation of RNA splicing;GO:0002181 cytoplasmic translation;GO:0042274 ribosomal small subunit biogenesis", "synthesized_glycan_count": 0, "hit_score": 31.7, "record_id": "P62277-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P39019-1", "uniprot_id": [ { "id": "RS19_HUMAN", "url": "https://www.uniprot.org/uniprot/P39019", "type": "external" } ], "mass": 16060.0, "length": 145, "protein_name": "Small ribosomal subunit protein eS19", "gene_name": "RPS19", "organism": "Human", "refseq_name": "small ribosomal subunit protein eS19 isoform 1", "refseq_ac": [ { "id": "NP_001013", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013", "type": "external" } ], "gene_names_uniprotkb": "RPS19", "gene_names_refseq": "DBA1; DBA; LOH19CR1; RPS19; S19; eS19", "protein_names_uniprotkb": "Small ribosomal subunit protein eS19; 40S ribosomal protein S19", "protein_names_refseq": "40S ribosomal protein S19; loss of heterozygosity on chromosome 19, region 1; loss of heterozygosity, 19, chromosomal region 1; small ribosomal subunit protein eS19 isoform 1; small ribosomal subunit protein eS19", "tax_id": 9606, "disease": "Diamond-Blackfan anemia 1 (Disease Ontology:DOID:0111895); aplastic anemia (Disease Ontology:DOID:12449); Diamond-Blackfan anemia (Disease Ontology:DOID:1339)", "pathway": " (hsa:6223); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 322, "publication_id_list": "10358005;10364207;10590074;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11112378;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12586610;12588972;12718880;12750732;12832468;12853463;1339304;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;15034551;15075082;15317934;15384984;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;16990592;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17517689;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18412286;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;1861871;18657639;18974281;19060897;19106111;19150429;19200342;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20305658;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20844026;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22121020;22174690;22190735;22195017;22424782;22855488;22869377;22916032;23035226;23085078;23217742;23234702;23269699;23439679;23481700;23482395;23636399;23746841;2388630;24129315;24424021;24524803;24550520;24714562;24715725;25062117;25132172;25242263;25418920;25432065;25525153;25576301;25645385;25802875;25880248;25969445;26154972;26237581;26375851;26728094;26758079;26992070;27397612;27452731;27526673;27600516;27846572;27862975;27920218;28063628;28065601;28132843;28218747;28228285;28467828;28489076;28510447;28649982;28685749;28832583;28834231;28855257;28904123;29242379;29317506;29331515;29393594;29413899;29437277;29485866;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30192525;30293783;30315122;30410026;30429286;30484775;30804176;31217245;31222486;31611695;31844290;32099016;32119511;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32579943;32680882;32908316;32938616;32983136;32995776;32995777;33043033;33080218;33091337;33123756;33141586;33188728;33214551;33268501;33298915;33392160;33479166;33592498;33622161;33691108;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34211107;34315815;34357683;34373319;34433824;34509645;34516797;34561969;34624207;34725712;35051231;35138101;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36302773;36413407;36610391;37217939;37938771;38665916;39395807;40930100;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8336711;8407925;8706699;8890909;8943342;9045610;9211906;9431993;9482744;9582194;9631292;9637248;9712840;9732867;9857202;9988267", "class_list": "", "function": "An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity. Publication Status: Online-Only, [RefSeq, PubMed]; Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Required for pre-rRNA processing and maturation of 40S ribosomal subunits (PubMed:16990592). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (PubMed:34516797)., [UniProtKB, PubMed, PubMed, PubMed]; Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. Required for pre-rRNA processing and maturation of 40S ribosomal subunits. 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, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia (DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042802 identical protein binding;GO:0017134 fibroblast growth factor binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0007000 nucleolus organization;GO:0050829 defense response to Gram-negative bacterium;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0030218 erythrocyte differentiation;GO:0006412 translation", "synthesized_glycan_count": 0, "hit_score": 32.6, "record_id": "P39019-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBR0-1", "uniprot_id": [ { "id": "P5I13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBR0", "type": "external" } ], "mass": 42238.0, "length": 393, "protein_name": "Tumor protein p53-inducible protein 13", "gene_name": "TP53I13", "organism": "Human", "refseq_name": "tumor protein p53-inducible protein 13 isoform a precursor", "refseq_ac": [ { "id": "NP_612358", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612358", "type": "external" } ], "gene_names_uniprotkb": "TP53I13; DSCP1", "gene_names_refseq": "DSCP1; TP53I13", "protein_names_uniprotkb": "Tumor protein p53-inducible protein 13; Damage-stimulated cytoplasmic protein 1", "protein_names_refseq": "damage-stimulated cytoplasmic protein 1; tumor protein p53-inducible protein 13 isoform a precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:90313)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;11237011;14767535;23481700;23584533;25645385;25813380;32157095;32938616;33298915;33968037;38253038", "class_list": "", "function": "May act as a tumor suppressor. Inhibits tumor cell growth, when overexpressed., [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": 0, "reported_o_glycosites": 1, "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": 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": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q7L5U3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0009411 response to UV;GO:0009410 response to xenobiotic stimulus;GO:0045786 negative regulation of cell cycle", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8NBR0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18754-1", "uniprot_id": [ { "id": "RCC1_HUMAN", "url": "https://www.uniprot.org/uniprot/P18754", "type": "external" } ], "mass": 44969.0, "length": 421, "protein_name": "Regulator of chromosome condensation", "gene_name": "RCC1", "organism": "Human", "refseq_name": "regulator of chromosome condensation isoform a", "refseq_ac": [ { "id": "NP_001041659", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041659", "type": "external" } ], "gene_names_uniprotkb": "RCC1; CHC1", "gene_names_refseq": "CHC1; IIAAN; RCC1-I; RCC1", "protein_names_uniprotkb": "Regulator of chromosome condensation; Cell cycle regulatory protein; Chromosome condensation protein 1", "protein_names_refseq": "cell cycle regulatory protein; guanine nucleotide-releasing protein; regulator of chromosome condensation isoform a", "tax_id": 9606, "disease": "infection-induced acute-onset axonal neuropathy (MONDO:MONDO:0979881)", "pathway": " (hsa:1104); (R-HSA-165054); (R-HSA-180746); (R-HSA-9615933)", "pathway_count": 4, "publication_count": 130, "publication_id_list": "10911995;11231159;11237011;11336674;11836381;12194828;15014043;15203004;16820410;16964243;17081983;17098863;17235358;17287340;17322306;17435751;1769659;17855385;18316408;18452278;18568422;18669648;18691969;18762580;18767875;1944575;19559616;19651622;20068230;20068231;2017166;20668449;20953181;20974814;21406692;22215983;2236072;22424782;23186163;23481700;24275569;25576301;25602437;25645385;25723178;26024233;26154972;26375851;26811146;26992070;27600516;27920218;28063628;28218747;28228285;28510447;28514659;28649982;28834231;28904123;29040603;29042532;29242379;29331515;29351928;29393594;29437277;29493099;29557506;29632046;29786170;30315122;30410026;30429286;30524438;30620550;30779550;30833945;31217245;31530632;31844290;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34229054;34356619;34564892;34932366;35051231;35251023;35318648;35561310;35580925;36010968;3678831;37747077;38087057;38561375;38665916;40596516;40683276;7878053;7958838;7983178;8805303;9019411;9092824;9405152;9497385;9510255;9837918", "class_list": "", "function": "A novel DNA methylation signature revealed GDF6 and RCC1 as potential prognostic biomarkers correlated with cell proliferation in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Guanine-nucleotide releasing factor that promotes the exchange of Ran-bound GDP by GTP, and thereby plays an important role in RAN-mediated functions in nuclear import and mitosis (PubMed:11336674, PubMed:17435751, PubMed:1944575, PubMed:20668449, PubMed:22215983, PubMed:29042532). Contributes to the generation of high levels of chromosome-associated, GTP-bound RAN, which is important for mitotic spindle assembly and normal progress through mitosis (PubMed:12194828, PubMed:17435751, PubMed:22215983). Via its role in maintaining high levels of GTP-bound RAN in the nucleus, contributes to the release of cargo proteins from importins after nuclear import (PubMed:22215983). Involved in the regulation of onset of chromosome condensation in the S phase (PubMed:3678831). Binds both to the nucleosomes and double-stranded DNA (PubMed:17435751, PubMed:18762580)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; RCC1 functions as a tumor facilitator in clear cell renal cell carcinoma by dysregulating cell cycle, apoptosis, and EZH2 stability., [RefSeq, PubMed]; Targeting RCC1 to block the human soft-tissue sarcoma by disrupting nucleo-cytoplasmic trafficking of Skp2. Publication Status: Online-Only, [RefSeq, PubMed]; These results show that human RCC1 isoforms have distinct chromatin binding properties, different molecular interactions, and are selectively regulated by phosphorylation, as determined by their different NTRs., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 9, "reported_glycation": 0, "reported_snv": 6, "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": "Q16269;Q6NT97", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0046982 protein heterodimerization activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding;GO:0042393 histone binding", "go_cellular_component": "GO:0000794 condensed nuclear chromosome;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0007059 chromosome segregation;GO:0016032 viral process;GO:0051301 cell division;GO:0007346 regulation of mitotic cell cycle;GO:0000082 G1/S transition of mitotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 13.4, "record_id": "P18754-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P00439-1", "uniprot_id": [ { "id": "PH4H_HUMAN", "url": "https://www.uniprot.org/uniprot/P00439", "type": "external" } ], "mass": 51862.0, "length": 452, "protein_name": "Phenylalanine-4-hydroxylase", "gene_name": "PAH", "organism": "Human", "refseq_name": "phenylalanine-4-hydroxylase", "refseq_ac": [ { "id": "NP_000268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000268", "type": "external" } ], "gene_names_uniprotkb": "PAH", "gene_names_refseq": "PAH; PH; PKU1; PKU", "protein_names_uniprotkb": "Phenylalanine-4-hydroxylase; 1.14.16.1; PAH; Phe-4-monooxygenase", "protein_names_refseq": "L-phenylalanine hydroxylase; phe-4-monooxygenase; phenylalanine 4-monooxygenase; phenylalanine-4-hydroxylase", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059); phenylketonuria (Disease Ontology:DOID:9281)", "pathway": " (hsa:5053); (R-HSA-2160456); (R-HSA-8964208)", "pathway_count": 3, "publication_count": 105, "publication_id_list": "10200057;10679941;10694386;11180595;11237011;11326337;11385716;11461196;11718561;11935335;12185072;12501224;12554741;1301187;1355066;1358789;1363837;1363838;15096628;15364907;1671810;1672290;1672294;1679029;1679030;1709636;17356132;18460651;18538294;18835579;19338303;1975559;19839645;2014802;21555948;22005392;22371403;2246858;22513348;22526846;22861376;22891768;23792259;24275569;2451499;2461704;24768817;2564729;25892735;2615649;26811146;27397612;27862975;27920218;28063628;2840952;29242379;29557506;29769354;29789417;2986678;3033643;31844290;32668217;33091337;34087483;34185709;35051231;35580925;37938771;38448014;38706300;38731816;38818554;7744010;7833954;7883047;8068076;8088845;8098245;8262916;8294935;8352282;8364546;8406445;8444860;8573072;8594560;8889583;8889590;9048935;9101291;9406548;9450897;9452061;9452062;9521426;9600453;9634518;9642259;9792407;9792411;9843368;9852673;9950317", "class_list": "", "function": "Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Comprehensive analyses of phenylalanine hydroxylase variants and phenotypic characteristics of patients in the eastern region of Turkiye. Publication Status: Online-Only, [RefSeq, PubMed]; Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]., [RefSeq]; [Analysis of PAH gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria]., [RefSeq, PubMed]; [Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase 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": 1, "reported_glycation": 0, "reported_snv": 6, "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": "Q16717;Q8TC14", "ec_number_list": [ { "id": "1.14.16.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.16.1", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0004505 phenylalanine 4-monooxygenase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0006571 tyrosine biosynthetic process;GO:0008652 amino acid biosynthetic process;GO:0006559 L-phenylalanine catabolic process;GO:0042423 catecholamine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "P00439-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30419-1", "uniprot_id": [ { "id": "NMT1_HUMAN", "url": "https://www.uniprot.org/uniprot/P30419", "type": "external" } ], "mass": 56806.0, "length": 496, "protein_name": "Glycylpeptide N-tetradecanoyltransferase 1", "gene_name": "NMT1", "organism": "Human", "refseq_name": "glycylpeptide N-tetradecanoyltransferase 1", "refseq_ac": [ { "id": "NP_066565", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066565", "type": "external" } ], "gene_names_uniprotkb": "NMT1; NMT", "gene_names_refseq": "HsNMT1; NMT1; NMT", "protein_names_uniprotkb": "Glycylpeptide N-tetradecanoyltransferase 1; 2.3.1.-; 2.3.1.97; HsNMT1; Myristoyl-CoA:protein N-myristoyltransferase 1; NMT 1; Peptide N-myristoyltransferase 1; Protein-lysine myristoyltransferase NMT1; Type I N-myristoyltransferase", "protein_names_refseq": "alternative, short form NMT-S; glycylpeptide N-tetradecanoyltransferase 1; long form, NMT-L; myristoyl-CoA:protein N-myristoyltransferase 1; protein-lysine myristoyltransferase NMT1; type I N-myristoyltransferase", "tax_id": 9606, "disease": "muscular disease (Disease Ontology:DOID:0080000)", "pathway": " (hsa:4836); (R-HSA-162599); (R-HSA-203615); (R-HSA-2514859); (R-HSA-75108); (R-HSA-9918432)", "pathway_count": 6, "publication_count": 184, "publication_id_list": "10037746;10051575;10228156;10376602;10376603;10469573;10559837;10564809;10676965;10781589;11099414;11114298;11208594;11237011;11292825;11498544;11594778;11601986;11687658;11713293;11754336;11879202;11893755;11988487;12036349;12119397;12499365;12799359;12804595;12825937;1356371;1379636;1387789;1436039;14530264;14702087;15302935;15598505;15613341;1570339;15946941;16274222;16722822;16864653;16895762;16908407;16964243;17114291;17636946;17924679;18171027;18446211;18669648;18707149;18767875;18803695;19007248;19147491;19413330;19415658;19651622;19663506;19818506;1999465;20068231;20166139;20430952;20511233;20975703;21406692;21898353;22658984;22865860;23186163;23301498;23783831;24275569;24366607;24715725;25255805;2540796;25418920;2550422;2558719;26154972;26208004;26811146;26992070;27383988;27600516;27920218;28063628;28218747;28228285;28228593;28352266;28411811;28446606;28510447;28671819;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29786170;3006923;30315122;30410026;30429286;30833945;31154438;31217245;31530632;3164688;31844290;32103017;32111831;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32686708;32938616;32983136;33091337;33214551;33298915;33592498;33717175;33968037;33981976;34019948;34087483;34171305;34357683;34999170;35051231;35138101;35215835;35251023;35318648;35580925;35930829;36580660;36967718;37296100;37938771;38665916;38793607;4772407;6264430;7512951;7525588;7526403;7644482;7670478;7678445;7682292;7777544;7983048;8494894;8626439;8692835;8706659;8798458;8812493;9119368;9188442;9325253;9353336;9430683;9459445;9506952;9580552;9677304;9712842", "class_list": "", "function": "Adds a myristoyl group to the N-terminal glycine residue of certain cellular and viral proteins (PubMed:22865860, PubMed:25255805, PubMed:32686708, PubMed:34999170, PubMed:9353336, PubMed:9506952). Also able to mediate N-terminal lysine myristoylation of proteins: catalyzes myristoylation of ARF6 on both 'Gly-2' and 'Lys-3' (PubMed:32103017, PubMed:32111831). Lysine myristoylation is required to maintain ARF6 on membranes during the GTPase cycle (PubMed:32103017)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Adds a myristoyl group to the N-terminal glycine residue of certain cellular and viral proteins. Also able to mediate N-terminal lysine myristoylation of proteins: catalyzes myristoylation of ARF6 on both 'Gly-2' and 'Lys-3'. Lysine myristoylation is required to maintain ARF6 on membranes during the GTPase cycle., [UniProtKB, UniProtKB, UniProtKB]; Adds a myristoyl group to the N-terminal glycine residue of certain cellular proteins., [UniProtKB, UniProtKB, UniProtKB]; Myristate, a rare 14-carbon saturated fatty acid, is cotranslationally attached by an amide linkage to the N-terminal glycine residue of cellular and viral proteins with diverse functions. N-myristoyltransferase (NMT; EC 2.3.1.97) catalyzes the transfer of myristate from CoA to proteins. N-myristoylation appears to be irreversible and is required for full expression of the biologic activities of several N-myristoylated proteins, including the alpha subunit of the signal-transducing guanine nucleotide-binding protein (G protein) GO (GNAO1; MIM 139311) (Duronio et al., 1992 [PubMed 1570339]).[supplied by OMIM, Nov 2008]., [RefSeq]; N-myristoyltransferase-1 deficiency blocks myristoylation of LAMTOR1 and inhibits bladder cancer progression., [RefSeq, PubMed]; N-mytistoyltransferase 1 and 2 are potential tumor suppressors and novel targets of miR-182 in human non-small cell lung carcinomas., [RefSeq, PubMed]; SPI1 Mediates N-Myristoyltransferase 1 to Advance Gastric Cancer Progression via PI3K/AKT/mTOR Pathway. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 5, "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": "A8K7C1;Q9UE09", "ec_number_list": [ { "id": "2.3.1.97", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.97", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "1.14.13.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.39", "type": "external" } ], "go_molecular_function": "GO:0004379 glycylpeptide N-tetradecanoyltransferase activity;GO:0019107 myristoyltransferase activity;GO:0018030 peptidyl-lysine N6-myristoyltransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0042180 ketone metabolic process;GO:0018008 N-terminal peptidyl-glycine N-myristoylation;GO:0072657 protein localization to membrane;GO:0022400 regulation of opsin-mediated signaling pathway;GO:0006499 N-terminal protein myristoylation", "synthesized_glycan_count": 0, "hit_score": 18.7, "record_id": "P30419-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UW1-1", "uniprot_id": [ { "id": "OSTA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UW1", "type": "external" } ], "mass": 37735.0, "length": 340, "protein_name": "Organic solute transporter subunit alpha", "gene_name": "SLC51A", "organism": "Human", "refseq_name": "organic solute transporter subunit alpha", "refseq_ac": [ { "id": "NP_689885", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689885", "type": "external" } ], "gene_names_uniprotkb": "SLC51A; OSTA", "gene_names_refseq": "OSTA; OSTalpha; PFIC6; SLC51A1; SLC51A", "protein_names_uniprotkb": "Organic solute transporter subunit alpha; OST-alpha; Solute carrier family 51 subunit alpha", "protein_names_refseq": "OST-alpha; organic solute transporter alpha; organic solute transporter subunit alpha; organic solute transporter, alpha subunit; solute carrier family 51 alpha subunit; solute carrier family 51 subunit alpha", "tax_id": 9606, "disease": "chromosome 3q29 microdeletion syndrome (Disease Ontology:DOID:0060419); progressive familial intrahepatic cholestasis (Disease Ontology:DOID:0070221); cholestasis, progressive familial intrahepatic, 6 (MONDO:MONDO:0030360)", "pathway": " (hsa:200931); (R-HSA-159418)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10334992;10334993;10358072;10601278;10884298;10987286;11159893;11237011;11387316;11870371;11980911;12220224;12393883;12404239;12404240;12486725;12663868;12704183;12719432;12815072;13416382;14699511;16251721;16269519;16317684;16541101;16908160;17650074;2037576;23018617;23337244;23481700;28005267;29237092;29557506;31863603;32938616;33031748;41606314;41606328;7077161;7557095;7588781;8034703;8132774", "class_list": "", "function": "A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos., [RefSeq, PubMed]; Essential component of the OST-alpha/OST-beta complex, a heterotetramer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood (PubMed:16317684, PubMed:41606314, PubMed:41606328). The OST-alpha/OST-beta complex efficiently transports the major species of bile acids (taurocholate) (PubMed:16317684, PubMed:41606314, PubMed:41606328). Taurine conjugates are transported more efficiently across the basolateral membrane than glycine-conjugated bile acids (By similarity). In the complex, SLC51A/OST-alpha adopts a G protein-coupled receptor fold and constitutes a bile acid recognition site (PubMed:41606314, PubMed:41606328). Can also transport steroids such as estrone 3-sulfate and dehydroepiandrosterone 3-sulfate, therefore playing a role in the enterohepatic circulation of sterols (PubMed:16317684). Able to transport eicosanoids such as prostaglandin E2 (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; OSTalpha has roles in biological transport and is widely expressed in human tissues, [RefSeq, PubMed]; OSTalpha/OSTbeta expression is induced by bile acids through ligand-dependent transactivation of both OST genes by the nuclear bile acid receptor/farnesoid X receptor (FXR)., [RefSeq, PubMed]; Overexpression of human OSTalpha and OSTbeta facilitated the uptake of conjugated chenodeoxycholate and the activation of FXR target genes, [RefSeq, PubMed]; SLC51A expression is significantly upregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; The selective localization of OSTalpha and OSTbeta to the basolateral plasma membrane of epithelial cells responsible for bile acid and sterol reabsorption., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 26, "reported_glycation": 0, "reported_snv": 14, "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": "Q6ZMC7", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity;GO:0015125 bile acid transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0015721 bile acid and bile salt transport;GO:0032782 bile acid secretion", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q86UW1-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NXK6-1", "uniprot_id": [ { "id": "PAQR5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NXK6", "type": "external" } ], "mass": 38014.0, "length": 330, "protein_name": "Membrane progestin receptor gamma", "gene_name": "PAQR5", "organism": "Human", "refseq_name": "membrane progestin receptor gamma", "refseq_ac": [ { "id": "NP_001098024", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098024", "type": "external" } ], "gene_names_uniprotkb": "PAQR5; MPRG", "gene_names_refseq": "MPRG; PAQR5", "protein_names_uniprotkb": "Membrane progestin receptor gamma; Membrane progesterone P4 receptor gamma; Membrane progesterone receptor gamma; Progesterone and adipoQ receptor family member 5; Progestin and adipoQ receptor family member 5; Progestin and adipoQ receptor family member V; mPR gamma", "protein_names_refseq": "mPR gamma; membrane progesterone P4 receptor gamma; membrane progesterone receptor gamma; membrane progestin receptor gamma; progesterone and adipoQ receptor family member 5; progestin and adipoQ receptor family member V", "tax_id": 9606, "disease": "", "pathway": " (hsa:54852)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;12601167;12606724;16044242;18603275;21761364;23481700;23763432;25576301;28834231;29557506;30429286;30779550;30833945;31222486;31844290;31848261;32157095;33592498;33981976;34171305;37126128", "class_list": "", "function": "Data show abundant mPRalpha (PAQR7), mPRbeta (PAQR8), and mPRgamma (PAQR5), but not classical nuclear PR (A or B isoforms) mRNA expression and mPRalpha protein expression in a panel of commonly used ovarian cancer cell lines., [RefSeq, PubMed]; Heterologous expression of MPRG in yeast confirms its ability to function as a membrane progesterone receptor., [RefSeq, PubMed]; PAQR5 inhibits the growth and metastasis of clear cell renal cell carcinoma by suppressing the JAK/STAT3 signaling pathway., [RefSeq, PubMed]; Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432). Seems to act through a G(i) mediated pathway (PubMed:23763432). May be involved in oocyte maturation (PubMed:12601167)., [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": 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": "Q8IXU2", "ec_number_list": [], "go_molecular_function": "GO:0005496 steroid binding;GO:0038023 signaling receptor activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0048477 oogenesis", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9NXK6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15460-1", "uniprot_id": [ { "id": "P4HA2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15460", "type": "external" } ], "mass": 60902.0, "length": 535, "protein_name": "Prolyl 4-hydroxylase subunit alpha-2", "gene_name": "P4HA2", "organism": "Human", "refseq_name": "prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001017974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017974", "type": "external" } ], "gene_names_uniprotkb": "P4HA2; PRO330", "gene_names_refseq": "MYP25; P4HA2; lncRNA-PE", "protein_names_uniprotkb": "Prolyl 4-hydroxylase subunit alpha-2; 1.14.11.2; 4-PH alpha-2; Procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2", "protein_names_refseq": "4-PH alpha 2; C-P4Halpha(II); collagen prolyl 4-hydroxylase alpha(II); lncRNA promotes epithelial-mesenchymal transition; procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II; procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2; prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor; prolyl 4-hydroxylase, alpha polypeptide II", "tax_id": 9606, "disease": "myopia (Disease Ontology:DOID:11830); myopia 25, autosomal dominant (MONDO:MONDO:0014982)", "pathway": " (hsa:8974); (R-HSA-1650814); (R-HSA-9918432)", "pathway_count": 3, "publication_count": 90, "publication_id_list": "10.1101/2023.09.13.557529;10228156;10479448;10934207;11237011;11606192;12473679;12475640;12646579;12824157;12975309;1323838;14500733;15044469;1577494;16591531;18487197;19075007;19693541;20470363;21878990;21967573;22121020;23481700;24190977;2543975;25576301;25645385;25741866;26208004;26992070;27383988;28228593;28832583;28834231;29242379;29331515;29393594;29493099;29557506;29632046;29786170;30429286;30459171;3173483;31844290;31848261;32157095;32350084;32502341;32938616;32983136;33592498;33717175;33968037;34171305;34725712;34846842;35008409;35051231;35138101;35215835;35251023;35254053;35580925;36010968;36241641;36284347;37074911;37541260;37938771;38522060;38665916;38777998;38793607;38857058;38951593;3905801;3938630;39531497;40596516;6307276;6809411;710450;7753822;9054364;9211872;9545296;9560306;9582318", "class_list": "", "function": "Catalyzes the post-translational formation of 4-hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins., [UniProtKB, PubMed]; P4HA2 contributes to head and neck squamous cell carcinoma progression and EMT through PI3K/AKT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; P4HA2 involved in SLUG-associated EMT predicts poor prognosis of patients with KRAS-positive colorectal cancer., [RefSeq, PubMed]; P4HA2 promotes proliferation, invasion, and metastasis through regulation of the PI3K/AKT signaling pathway in oral squamous cell carcinoma. Erratum:[Sci Rep. 2024 Oct 28;14(1):25836. doi: 10.1038/s41598-024-76811-1. PMID: 39468141] Publication Status: Online-Only, [RefSeq, PubMed]; P4HA2 promotes tumor progression and is transcriptionally regulated by SP1 in colorectal cancer., [RefSeq, PubMed]; The substrate specificity, binding site and conformation of this enzyme, [RefSeq, PubMed]; This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants 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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 14, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "D3DQ85;D3DQ86;Q8WWN0", "ec_number_list": [ { "id": "1.14.11.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.2", "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:0005506 iron ion binding;GO:0009055 electron transfer activity;GO:0031418 L-ascorbic acid binding;GO:0004656 procollagen-proline 4-dioxygenase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "O15460-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFZ4-1", "uniprot_id": [ { "id": "NLGN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFZ4", "type": "external" } ], "mass": 90820.0, "length": 835, "protein_name": "Neuroligin-2", "gene_name": "NLGN2", "organism": "Human", "refseq_name": "neuroligin-2 precursor", "refseq_ac": [ { "id": "NP_065846", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065846", "type": "external" } ], "gene_names_uniprotkb": "NLGN2; KIAA1366", "gene_names_refseq": "NLGN2", "protein_names_uniprotkb": "Neuroligin-2", "protein_names_refseq": "neuroligin-2 precursor", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); sciatic neuropathy (Disease Ontology:DOID:11446); status epilepticus (Disease Ontology:DOID:1824); schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:57555); (R-HSA-6794361)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11604393;12669065;15540461;16242404;16624946;16846852;17897391;18755801;18812509;18829961;19926856;20064387;20064388;20519524;21282647;23751499;25378172;25576301;29557506;30459171;30484775;32157095;32161166;32350084;32938616;33127642;33443230;33592498;34171305;34357683;35051231;35251023;35580925;36010968;36215666;36241641;36479216;37865312;7695896;7736595;8576240;9069287;9278515;9808458;9927700", "class_list": "glycogene", "function": "Expression and structural analysis of human neuroligin 2 and neuroligin 3 implicated in autism spectrum disorders. Publication Status: Online-Only, [RefSeq, PubMed]; Neuroligin-2 as a central organizer of inhibitory synapses in health and disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Neuroligin-2 dependent conformational activation of collybistin reconstituted in supported hybrid membranes., [RefSeq, PubMed]; This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. [provided by RefSeq, Jul 2008]., [RefSeq]; Transmembrane scaffolding protein involved in cell-cell interactions via its interactions with neurexin family members. Mediates cell-cell interactions both in neurons and in other types of cells, such as Langerhans beta cells. Plays a role in synapse function and synaptic signal transmission, especially via gamma-aminobutyric acid receptors (GABA(A) receptors). Functions by recruiting and clustering synaptic proteins. Promotes clustering of postsynaptic GABRG2 and GPHN. Promotes clustering of postsynaptic LHFPL4 (By similarity). Modulates signaling by inhibitory synapses, and thereby plays a role in controlling the ratio of signaling by excitatory and inhibitory synapses and information processing. Required for normal signal amplitude from inhibitory synapses, but is not essential for normal signal frequency. May promote the initial formation of synapses, but is not essential for this. In vitro, triggers the de novo formation of presynaptic structures. Mediates cell-cell interactions between Langerhans beta cells and modulates insulin secretion (By similarity)., [UniProtKB, 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": 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": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 791, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q9P2I1", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0050839 cell adhesion molecule binding;GO:0042043 neurexin family protein binding;GO:0098631 cell adhesion mediator activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0030424 axon;GO:0043197 dendritic spine", "go_biological_process": "GO:0072553 terminal button organization;GO:0099054 presynapse assembly;GO:0097116 gephyrin clustering involved in postsynaptic density assembly;GO:1901142 insulin metabolic process;GO:0097104 postsynaptic membrane assembly", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q8NFZ4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000011001.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5E7-1", "uniprot_id": [ { "id": "PCDB2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5E7", "type": "external" } ], "mass": 87254.0, "length": 798, "protein_name": "Protocadherin beta-2", "gene_name": "PCDHB2", "organism": "Human", "refseq_name": "protocadherin beta-2 precursor", "refseq_ac": [ { "id": "NP_061759", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061759", "type": "external" } ], "gene_names_uniprotkb": "PCDHB2", "gene_names_refseq": "PCDH-BETA2; PCDHB2", "protein_names_uniprotkb": "Protocadherin beta-2; PCDH-beta-2", "protein_names_refseq": "protocadherin beta-2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:56133)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "10380929;11322959;19608861;29371260;29741879;30484775;31844290;32157095;32350084;32938616;33968037;34087483;34509645;35051231;35154160;35251023;35318648;36010968", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 4, "predicted_n_glycosites": 3, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 58, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q4KMU1", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0007155 cell adhesion;GO:0007399 nervous system development;GO:0007268 chemical synaptic transmission;GO:0007416 synapse assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9Y5E7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43542-1", "uniprot_id": [ { "id": "XRCC3_HUMAN", "url": "https://www.uniprot.org/uniprot/O43542", "type": "external" } ], "mass": 37850.0, "length": 346, "protein_name": "DNA repair protein XRCC3", "gene_name": "XRCC3", "organism": "Human", "refseq_name": "DNA repair protein XRCC3", "refseq_ac": [ { "id": "NP_001093588", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093588", "type": "external" } ], "gene_names_uniprotkb": "XRCC3", "gene_names_refseq": "CMM6; XRCC3", "protein_names_uniprotkb": "DNA repair protein XRCC3; X-ray repair cross-complementing protein 3", "protein_names_refseq": "DNA repair protein XRCC3; X-ray repair complementing defective repair in Chinese hamster cells 3; X-ray repair cross-complementing protein 3", "tax_id": 9606, "disease": "brain glioma (Disease Ontology:DOID:0060108); hypertension (Disease Ontology:DOID:10763); breast cancer (Disease Ontology:DOID:1612); pancreatic cancer (Disease Ontology:DOID:1793); high grade glioma (Disease Ontology:DOID:3070); coronary artery disease (Disease Ontology:DOID:3393); meningioma (Disease Ontology:DOID:3565); central nervous system cancer (Disease Ontology:DOID:3620); myocardial infarction (Disease Ontology:DOID:5844); familial melanoma (Disease Ontology:DOID:6846); multiple myeloma (Disease Ontology:DOID:9538); melanoma, cutaneous malignant, susceptibility to, 6 (MONDO:MONDO:0013510)", "pathway": " (hsa:7517); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693554); (R-HSA-5693568); (R-HSA-5693579)", "pathway_count": 6, "publication_count": 163, "publication_id_list": "10801132;10856253;11006276;11059748;11237011;11459987;11744692;11751635;11842113;12023982;12037675;12115490;12376526;12565173;12686547;12721304;12815008;12912992;14527420;14652281;14688016;14704354;14716019;15019159;15914278;15916957;16215984;16271954;16337601;16425350;16485136;16501254;16963196;17063276;17063279;17114795;17116943;17289582;17525332;17701750;17705814;17996710;17996711;18033323;18957201;19031937;19074197;19268590;19369211;19426727;19596236;19772428;19941829;20004634;20054644;20207730;20413593;20601096;20871615;20871616;20965415;21104022;21377025;21701125;21712134;21725251;21965664;22370935;22374424;22487057;22593209;22611952;22645308;22864780;23108668;23149936;23385236;23409158;23438602;23443124;23509288;23534771;23539294;23686288;23731732;23747401;23754376;23803098;23824570;23844267;23940523;24076221;24116196;24141787;24166604;24197974;24197983;24371268;24377592;24377596;24485656;24509834;24687779;24715725;24728564;24794803;24831703;25013509;25066399;25218703;25340946;25556451;25556492;25576301;25642794;25973083;26085717;26137085;26498491;26617908;26662391;26662447;26682510;26687776;26801223;26893845;26922354;26992070;27846572;27920218;28030902;28089683;28218747;28228285;28397463;28639054;28832583;28834231;28904123;29242379;29332455;29437277;29608566;30315122;30410026;31530632;31844290;32157095;32161166;32387766;33141586;33298915;33912179;33936100;33968037;34211107;34509645;36264998;37006067;37212185;37522793;37774058;9660962", "class_list": "", "function": "Association between XRCC3 p.Thr241Met polymorphism and risk of glioma: A systematic review and meta-analysis. Publication Status: Online-Only, [RefSeq, PubMed]; Association of RAD51, XRCC1, XRCC2, and XRCC3 Polymorphisms with Risk of Breast Cancer., [RefSeq, PubMed]; Impact of Interaction between Single Nucleotide Polymorphism of XRCC1, XRCC2, XRCC3 with Tumor Suppressor Tp53 Gene Increases Risk of Breast Cancer: A Hospital Based Case-Control Study. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD51 paralog protein complex CX3 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, CX3 acts downstream of RAD51 recruitment; the complex binds predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junctions of replication forks. Involved in HJ resolution and thus in processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex and seems to involve GEN1 during mitotic cell cycle progression. Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and RAD51C., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Systematic evaluation of the association between a missense variant in XRCC3 gene splicing site and the pathogenesis of ovarian cancer., [RefSeq, PubMed]; This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; XRCC3 and NBS1 gene polymorphisms modulate the risk of pre-oral cancer and oral cancer in the North Indian population., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 12, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "O43568;Q9BU18", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0140664 ATP-dependent DNA damage sensor activity", "go_cellular_component": "GO:0043596 nuclear replication fork;GO:0033065 Rad51C-XRCC3 complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0010824 regulation of centrosome duplication;GO:0090657 telomeric loop disassembly;GO:0006281 DNA repair;GO:0006310 DNA recombination;GO:0006974 DNA damage response", "synthesized_glycan_count": 0, "hit_score": 16.4, "record_id": "O43542-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5E4-1", "uniprot_id": [ { "id": "PCDB5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5E4", "type": "external" } ], "mass": 86433.0, "length": 795, "protein_name": "Protocadherin beta-5", "gene_name": "PCDHB5", "organism": "Human", "refseq_name": "protocadherin beta-5 precursor", "refseq_ac": [ { "id": "NP_056484", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056484", "type": "external" } ], "gene_names_uniprotkb": "PCDHB5", "gene_names_refseq": "PCDH-BETA5; PCDHB5", "protein_names_uniprotkb": "Protocadherin beta-5; PCDH-beta-5", "protein_names_refseq": "PCDH-beta-5; protocadherin beta-5 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:26167)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10380929;11237011;11322959;29741879;31222486;31848261;34419445;37938771", "class_list": "", "function": "Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain., [UniProtKB]; This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]., [RefSeq]; Weighted genes associated with the progression of retinoblastoma: Evidence from bioinformatic analysis., [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": 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": 54, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q549F4;Q9UFU9", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding;GO:0050839 cell adhesion molecule binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045202 synapse", "go_biological_process": "GO:0007155 cell adhesion;GO:0007268 chemical synaptic transmission;GO:0007416 synapse assembly;GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules;GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9Y5E4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEZ7-1", "uniprot_id": [ { "id": "PAQR8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEZ7", "type": "external" } ], "mass": 40464.0, "length": 354, "protein_name": "Membrane progestin receptor beta", "gene_name": "PAQR8", "organism": "Human", "refseq_name": "membrane progestin receptor beta", "refseq_ac": [ { "id": "NP_588608", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_588608", "type": "external" } ], "gene_names_uniprotkb": "PAQR8; C6orf33; LMPB1; MPRB", "gene_names_refseq": "C6orf33; LMPB1; MPRB; PAQR8", "protein_names_uniprotkb": "Membrane progestin receptor beta; Lysosomal membrane protein in brain 1; Membrane progesterone P4 receptor beta; Membrane progesterone receptor beta; Progesterone and adipoQ receptor family member 8; Progestin and adipoQ receptor family member 8; Progestin and adipoQ receptor family member VIII; mPR beta", "protein_names_refseq": "lysosomal membrane protein in brain-1; mPR beta; membrane progesterone P4 receptor beta; membrane progesterone receptor beta; membrane progestin receptor beta; progesterone and adipoQ receptor family member 8; progestin and adipoQ receptor family member VIII", "tax_id": 9606, "disease": "", "pathway": " (hsa:85315)", "pathway_count": 1, "publication_count": 66, "publication_id_list": "11237011;11676489;12601167;12606724;16044242;18603275;21761364;22706990;23161870;23481700;23763432;24715725;25418920;25505266;25576301;25880248;26154972;26811146;26992070;27846572;27862975;27920218;28063628;28228285;28514659;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29786170;29789417;30315122;30410026;30429286;31092671;31154438;31217245;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32983136;33141586;33298915;33592498;33912179;33936100;33968037;34185709;34211107;34509645;34561969;34932366;35051231;36010968;36241641", "class_list": "", "function": "Data show abundant mPRalpha (PAQR7), mPRbeta (PAQR8), and mPRgamma (PAQR5), but not classical nuclear PR (A or B isoforms) mRNA expression and mPRalpha protein expression in a panel of commonly used ovarian cancer cell lines., [RefSeq, PubMed]; Heterologous expression of MPRB in yeast confirms its ability to function as a membrane progesterone receptor., [RefSeq, PubMed]; LMPB1 is indeed an integral membrane protein that targets to lysosomal structures., [RefSeq, PubMed]; Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432). Seems to act through a G(i) mediated pathway (PubMed:23763432). May be involved in oocyte maturation (By similarity). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23161870)., [UniProtKB, PubMed, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RCF6;Q86WL0;Q8N6D3;Q9HD02", "ec_number_list": [], "go_molecular_function": "GO:0003707 nuclear steroid receptor activity;GO:0005496 steroid binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0048545 response to steroid hormone;GO:0048477 oogenesis", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q8TEZ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95897-1", "uniprot_id": [ { "id": "NOE2_HUMAN", "url": "https://www.uniprot.org/uniprot/O95897", "type": "external" } ], "mass": 51386.0, "length": 454, "protein_name": "Noelin-2", "gene_name": "OLFM2", "organism": "Human", "refseq_name": "noelin-2 isoform 1", "refseq_ac": [ { "id": "NP_001291276", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291276", "type": "external" } ], "gene_names_uniprotkb": "OLFM2; NOE2", "gene_names_refseq": "NOE2; NOELIN2_V1; NOELIN2; OLFM2; OlfC", "protein_names_uniprotkb": "Noelin-2; Olfactomedin-2", "protein_names_refseq": "neuronal olfactomedin related ER localized protein 2; noelin-2 isoform 1; noelin-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:93145)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "10.1101/2023.09.13.557529;11237011;15123989;16959974;17122126;19531498;21228389;25298399;25576301;25645385;27600516;27844144;27846572;28832583;28904123;29242379;29331515;29391424;29493099;29553861;29557506;30779550;31154438;31844290;31848261;32157095;32357974;32983136;33592498;33912179;33981976;34171305;35051231;35318648;35580925;35806447;36010968;36241641;36284347;36982296;37938771;38350902", "class_list": "", "function": "Involved in transforming growth factor beta (TGF-beta)-induced smooth muscle differentiation. TGF-beta induces expression and translocation of OLFM2 to the nucleus where it binds to SRF, causing its dissociation from the transcriptional repressor HEY2/HERP1 and facilitating binding of SRF to target genes (PubMed:25298399). Plays a role in AMPAR complex organization (By similarity). Is a regulator of vascular smooth-muscle cell (SMC) phenotypic switching, that acts by promoting RUNX2 and inhibiting MYOCD binding to SRF. SMC phenotypic switching is the process through which vascular SMCs undergo transition between a quiescent contractile phenotype and a proliferative synthetic phenotype in response to pathological stimuli. SMC phenotypic plasticity is essential for vascular development and remodeling (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed]; New Insights of OLFM2 and OLFM4 in Gut-Liver Axis and Their Potential Involvement in Nonalcoholic Fatty Liver Disease. Publication Status: Online-Only, [RefSeq, PubMed]; OLFM2 promotes epithelial-mesenchymal transition, migration, and invasion in colorectal cancer through the TGF-beta/Smad signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Plasma OLFM2 is a potential biomarker for restenosis and may be a novel target for the treatment of restenosis., [RefSeq, PubMed]; The Arg144Gln mutation in OLFM2 is a possible disease-causing mutation in Japanese patients with OAG. Common polymorphisms in OLFM2 and OPTN may interactively contribute to the development of OAG, indicating a polygenic etiology. GeneRIF: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; The Role of Olfactomedin 2 in the Adipose Tissue-Liver Axis and Its Implication in Obesity-Associated Nonalcoholic Fatty Liver Disease. 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": 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": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 8667, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q6IMJ3;Q96FC2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:1905174 regulation of vascular associated smooth muscle cell dedifferentiation;GO:0007165 signal transduction;GO:0009306 protein secretion;GO:0051152 positive regulation of smooth muscle cell differentiation", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "O95897-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13516-1", "uniprot_id": [ { "id": "OLIG2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13516", "type": "external" } ], "mass": 32385.0, "length": 323, "protein_name": "Oligodendrocyte transcription factor 2", "gene_name": "OLIG2", "organism": "Human", "refseq_name": "oligodendrocyte transcription factor 2", "refseq_ac": [ { "id": "NP_005797", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005797", "type": "external" } ], "gene_names_uniprotkb": "OLIG2; BHLHB1; BHLHE19; PRKCBP2; RACK17", "gene_names_refseq": "BHLHB1; OLIG2; OLIGO2; PRKCBP2; RACK17; bHLHe19", "protein_names_uniprotkb": "Oligodendrocyte transcription factor 2; Class B basic helix-loop-helix protein 1; Class E basic helix-loop-helix protein 19; Oligo2; Protein kinase C-binding protein 2; Protein kinase C-binding protein RACK17; bHLHb1; bHLHe19", "protein_names_refseq": "basic domain, helix-loop-helix protein, class B, 1; class B basic helix-loop-helix protein 1; class E basic helix-loop-helix protein 19; human protein kinase C-binding protein RACK17; oligodendrocyte lineage transcription factor 2; oligodendrocyte transcription factor 2; oligodendrocyte-specific bHLH transcription factor 2; protein kinase C-binding protein 2", "tax_id": 9606, "disease": "status epilepticus (Disease Ontology:DOID:1824)", "pathway": " (hsa:10215)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "10737801;11237011;11498220;11526205;27447975;27600516;28218747;28355568;28904123;29557506;30568303;31154438;32502341;34171305;35051231;35856894;35967956;36193754;37001387;37748631;38253038;38324685", "class_list": "", "function": "Identifying an oligodendrocyte enhancer that regulates Olig2 expression., [RefSeq, PubMed]; Investigation of OLIG2 as a candidate gene for schizophrenia and autism spectrum disorder., [RefSeq, PubMed]; Isocitrate Dehydrogenase Mutations Are Associated with Different Expression and DNA Methylation Patterns of OLIG2 in Adult Gliomas., [RefSeq, PubMed]; OLIG2 expression level could be used as an independent prognostic factor for patients with cerebellar Glioblastoma (cGBM). Publication Status: Online-Only, [RefSeq, PubMed]; OLIG2 translocates to chromosomes during mitosis via a temperature downshift: A novel neural cold response of mitotic bookmarking., [RefSeq, PubMed]; Required for oligodendrocyte and motor neuron specification in the spinal cord, as well as for the development of somatic motor neurons in the hindbrain. Works in coordination with ZNF488 to promote oligodendrocyte differentiation. Orchestrates progenitor cell fates during cortical gliogenesis and gliomagenesis. In cooperation with OLIG2, activates oligodendrocyte precursor cells (OPCs) formation while repressing the generation of olfactory bulb interneuron intermediate progenitors (OBIN) generation through transcriptional regulation of GSX2. Mechanistically, binds and silences multiple conserved enhancer elements of GSX2. Cooperates with OLIG1 to establish the pMN domain of the embryonic neural tube. Antagonist of V2 interneuron and of NKX2-2-induced V3 interneuron development., [UniProtKB, UniProtKB]; This gene encodes a basic helix-loop-helix transcription factor which is expressed in oligodendroglial tumors of the brain. The protein is an essential regulator of ventral neuroectodermal progenitor cell fate. The gene is involved in a chromosomal translocation t(14;21)(q11.2;q22) associated with T-cell acute lymphoblastic leukemia. Its chromosomal location is within a region of chromosome 21 which has been suggested to play a role in learning deficits associated with Down 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B3KRF3;Q05BP9;Q49AL3;Q86X04;Q9NZ14", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0046983 protein dimerization activity;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0071837 HMG box domain binding;GO:0070888 E-box binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0042552 myelination;GO:0061564 axon development;GO:0021778 oligodendrocyte cell fate specification", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q13516-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07654-1", "uniprot_id": [ { "id": "TFF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07654", "type": "external" } ], "mass": 8641.0, "length": 80, "protein_name": "Trefoil factor 3", "gene_name": "TFF3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TFF3; ITF; TFI", "gene_names_refseq": "", "protein_names_uniprotkb": "Trefoil factor 3; Intestinal trefoil factor; Polypeptide P1.B; hITF; hP1.B", "protein_names_refseq": "", "tax_id": 9606, "disease": "pre-malignant neoplasm (Disease Ontology:DOID:0060071); prostate cancer (Disease Ontology:DOID:10283); colon cancer (Disease Ontology:DOID:219)", "pathway": " (hsa:7033); (R-HSA-9018519)", "pathway_count": 2, "publication_count": 148, "publication_id_list": "10500157;10824705;10828826;10830953;10873660;10950923;11010967;11034064;11103799;11136970;11165043;11237011;11345900;11410592;11452016;11581164;11583154;11682626;11694446;12498683;12612073;12959972;14631847;14637006;14675539;14690424;15001666;15276198;15282324;15340161;15343269;15345050;15489334;15514030;15986123;16009131;16046058;16087863;16113099;1630819;16980581;17013392;17277772;17463000;17495528;17510434;17637753;17666587;17690249;18187655;18209;18219272;18256232;18322535;18358809;18476782;18533032;18762174;18805503;19001364;19020303;19098913;19274700;19295514;19321454;19383337;19670903;19718048;20219941;20220130;20498280;20570965;20682797;21106759;21151129;21445275;21573489;2181374;21835891;21878914;21934649;21940756;22056668;22265404;22492511;22545144;22704330;23145106;23172872;23192763;23303788;23403292;23435229;23723241;23906331;24167369;24371278;24735615;24854081;24885040;24973012;24998469;25296600;25365482;25433557;25542856;25633194;25663755;25674852;25728767;26056233;26153859;26204489;26462610;26479350;27062924;27886276;28539435;2919170;3045126;32404934;3281094;33401971;33547649;34142550;34609407;3498214;3677090;7559524;7669039;7718582;7935485;7937828;8195246;8197458;8346203;8419924;8454642;8641134;8833157;8876171;9070946;9201922;9338790;9388265;9611253;9671459;9731700", "class_list": "", "function": "Involved in the maintenance and repair of the intestinal mucosa. Promotes the mobility of epithelial cells in healing processes (motogen)., [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": 0, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A0A6YYJ4;E9PBB5;Q96NX0;Q9UDA5", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0030141 secretory granule", "go_biological_process": "GO:0010906 regulation of glucose metabolic process;GO:0030277 maintenance of gastrointestinal epithelium", "synthesized_glycan_count": 0, "hit_score": 14.9, "record_id": "Q07654-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48736-1", "uniprot_id": [ { "id": "PK3CG_HUMAN", "url": "https://www.uniprot.org/uniprot/P48736", "type": "external" } ], "mass": 126454.0, "length": 1102, "protein_name": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform", "gene_name": "PIK3CG", "organism": "Human", "refseq_name": "phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform", "refseq_ac": [ { "id": "NP_001269355", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269355", "type": "external" } ], "gene_names_uniprotkb": "PIK3CG", "gene_names_refseq": "IMD97; PI3CG; PI3Kgamma; PI3K; PIK3CG; PIK3; p110gamma; p120-PI3K", "protein_names_uniprotkb": "Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform; 2.7.1.137; 2.7.1.153; 2.7.1.154; 2.7.11.1; PI3-kinase subunit gamma; PI3K-gamma; PI3Kgamma; Phosphatidylinositol 4,5-bisphosphate 3-kinase 110 kDa catalytic subunit gamma; Phosphoinositide-3-kinase catalytic gamma polypeptide; PtdIns-3-kinase subunit gamma; PtdIns-3-kinase subunit p110-gamma; Serine/threonine protein kinase PIK3CG; p110gamma; p120-PI3K", "protein_names_refseq": "1-phosphatidylinositol 3-kinase; PI3-kinase subunit gamma; phosphatidylinositol 3 kinase gamma, p110 gamma; phosphatidylinositol 3-kinase catalytic 110-kD gamma; phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform; phosphatidylinositol-4,5-bisphosphate 3-kinase 110 kDa catalytic subunit gamma; phosphoinositide-3-kinase gamma catalytic subunit; ptdIns-3-kinase subunit gamma; ptdIns-3-kinase subunit p110-gamma; serine/threonine protein kinase PIK3CG", "tax_id": 9606, "disease": "swine influenza (Disease Ontology:DOID:0050211); immunodeficiency 97 (Disease Ontology:DOID:0061067); autistic disorder (Disease Ontology:DOID:12849); pancreatic ductal adenocarcinoma (Disease Ontology:DOID:3498); liver cirrhosis (Disease Ontology:DOID:5082); diabetic retinopathy (Disease Ontology:DOID:8947)", "pathway": " (hsa:5294); (R-HSA-114604); (R-HSA-1257604); (R-HSA-1660499); (R-HSA-2219530); (R-HSA-389357); (R-HSA-392451); (R-HSA-6811558); (R-HSA-9027276); (R-HSA-9927354)", "pathway_count": 10, "publication_count": 246, "publication_id_list": "10026222;10191262;10194437;10194451;10224048;10455108;10469124;10555148;10559940;10580505;10593988;10753883;10805725;10822173;11001876;11084340;11147812;11237011;11262396;11277933;11279162;11302699;11349134;11416136;11481033;11598010;11604140;11676921;11733541;11803464;11877430;11923287;12101241;12118066;12138205;12163475;12167717;12324459;12422219;12502714;12506011;12507995;12536145;12538664;12646134;12660731;12670391;12767043;12808147;12813055;12832405;12847086;1325671;14516276;14617813;14660569;15007255;15080793;15107860;15135396;15149544;15294162;15464023;15644415;15708849;15716355;15718470;15797027;15834429;15840652;15870016;16094730;16123124;16127437;16154996;16174766;16339315;16399794;16456541;16476736;16522682;16647110;16914545;16938345;16979564;17008356;17200115;17245604;17290298;17616532;17626883;17651088;18079394;18093523;18278175;18317450;18439422;18589439;18594509;18606717;1874735;18753295;18754654;18755892;18829560;18925875;18955485;19038970;19147653;19185485;19409513;19411071;19576174;19644473;19665053;19700402;19805105;19850008;19896968;19962665;20231295;20338997;20522708;20534812;20713702;21188471;21204784;21317208;21368164;21393242;21474070;21478295;21668414;21827948;21976531;21984976;22037487;22120714;22188813;22267732;22588880;22647598;22802530;23519112;23758345;23783831;23824069;24714562;24715725;25495341;25505266;25576301;26154972;26992070;27543614;27862975;27920218;28218747;28228285;2841328;28649982;28736554;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;30524438;31554793;31844290;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33054089;33123756;33298915;33392160;33691108;33717175;33912179;33936100;34211107;34509645;35051231;35494241;35561310;35580925;35673779;35725890;35870262;36779349;37938771;38253038;38271660;40914422;7608176;7624799;7637810;7744773;8246984;8617742;8621607;8645157;8657148;8673706;8681945;8723348;8769125;8986718;8990121;9028946;9094719;9113989;9211928;9286278;9295334;9334184;9367159;9428629;9438848;9514948;9516481;9524259;9593664;9660759;9660833;9736715;9768361;9811831;9830063;9895304", "class_list": "", "function": "High expression of the phosphoinositide 3-kinase p11gamma isoform can predict poor prognosis of non-small cell lung cancer., [RefSeq, PubMed]; Hypoxia Sensing of beta-Adrenergic Receptor Is Regulated by Endosomal PI3Kgamma., [RefSeq, PubMed]; PI3Kgamma is a novel regulator of TNFalpha signaling in the human colon cell line HT29/B6., [RefSeq, PubMed]; PI3Kgamma maintains the self-renewal of acute myeloid leukemia stem cells by regulating the pentose phosphate pathway., [RefSeq, PubMed]; Phosphoinositide 3-kinases (PI3Ks) phosphorylate inositol lipids and are involved in the immune response. The protein encoded by this gene is a class I catalytic subunit of PI3K. Like other class I catalytic subunits (p110-alpha p110-beta, and p110-delta), the encoded protein binds a p85 regulatory subunit to form PI3K. This gene is located in a commonly deleted segment of chromosome 7 previously identified in myeloid leukemias. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2015]., [RefSeq]; Phosphoinositide-3-kinase (PI3K) that phosphorylates PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1, activating signaling cascades involved in cell growth, survival, proliferation, motility and morphology. Links G protein coupled receptor activation to PIP3 production. Involved in immune, inflammatory and allergic responses. Modulates leukocyte chemotaxis to inflammatory sites and in response to chemoattractant agents. May control leukocyte polarization and migration by regulating the spatial accumulation of PIP3 and by regulating the organization of F-actin formation and integrin-based adhesion at the leading edge. Controls motility of dendritic cells. Together with PIK3CD is involved in natural killer (NK) cell development and migration towards the sites of inflammation. Participates in T-lymphocyte migration. Regulates T-lymphocyte proliferation, activation, and cytokine production. Together with PIK3CD participates in T-lymphocyte development. Required for B-lymphocyte development and signaling. Together with PIK3CD participates in neutrophil respiratory burst. Together with PIK3CD is involved in neutrophil chemotaxis and extravasation. Together with PIK3CB promotes platelet aggregation and thrombosis. Regulates alpha-IIb/beta-3 integrins (ITGA2B/ ITGB3) adhesive function in platelets downstream of P2Y12 through a lipid kinase activity-independent mechanism. May have also a lipid kinase activity-dependent function in platelet aggregation. Involved in endothelial progenitor cell migration. Negative regulator of cardiac contractility. Modulates cardiac contractility by anchoring protein kinase A (PKA) and PDE3B activation, reducing cAMP levels. Regulates cardiac contractility also by promoting beta-adrenergic receptor internalization by binding to GRK2 and by non-muscle tropomyosin phosphorylation. Also has serine/threonine protein kinase activity: both lipid and protein kinase activities are required for beta-adrenergic receptor endocytosis. May also have a scaffolding role in modulating cardiac contractility. Contributes to cardiac hypertrophy under pathological stress. Through simultaneous binding of PDE3B to RAPGEF3 and PIK3R6 is assembled in a signaling complex in which the PI3K gamma complex is activated by RAPGEF3 and which is involved in angiogenesis. In neutrophils, participates in a phospholipase C-activating N-formyl peptide-activated GPCR (G protein-coupled receptor) signaling pathway downstream of RASGRP4-mediated Ras-activation, to promote neutrophil functional responses (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Synonymous mutation rs1129293 is associated with PIK3CG expression and PI3Kgamma activation in patients with chronic Chagas cardiomyopathy., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 4, "reported_glycation": 0, "reported_snv": 141, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4D0Q6;Q8IV23;Q9BZC8", "ec_number_list": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.1.153", "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": "2.7.11.21", "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": "2.7.10.1", "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": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.1.11.-", "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": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.3.2.27", "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": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.1.151", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.151", "type": "external" }, { "id": "2.7.1.140", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.140", "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:0042802 identical protein binding;GO:0046875 ephrin receptor binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005944 phosphatidylinositol 3-kinase complex, class IB", "go_biological_process": "GO:0033628 regulation of cell adhesion mediated by integrin;GO:0036092 phosphatidylinositol-3-phosphate biosynthetic process;GO:0003376 sphingosine-1-phosphate receptor signaling pathway;GO:0001525 angiogenesis;GO:0006897 endocytosis", "synthesized_glycan_count": 0, "hit_score": 25.0, "record_id": "P48736-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P28074-1", "uniprot_id": [ { "id": "PSB5_HUMAN", "url": "https://www.uniprot.org/uniprot/P28074", "type": "external" } ], "mass": 28480.0, "length": 263, "protein_name": "Proteasome subunit beta type-5", "gene_name": "PSMB5", "organism": "Human", "refseq_name": "proteasome subunit beta type-5 isoform 2", "refseq_ac": [ { "id": "NP_001124197", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124197", "type": "external" } ], "gene_names_uniprotkb": "PSMB5; LMPX; MB1; X", "gene_names_refseq": "LMPX; MB1; PSMB5", "protein_names_uniprotkb": "Proteasome subunit beta type-5; 3.4.25.1; Macropain epsilon chain; Multicatalytic endopeptidase complex epsilon chain; Proteasome chain 6; Proteasome epsilon chain; Proteasome subunit MB1; Proteasome subunit X; Proteasome subunit beta-5; beta-5", "protein_names_refseq": "PSX large multifunctional protease X; beta-5; macropain epsilon chain; multicatalytic endopeptidase complex epsilon chain; proteasome (prosome, macropain) subunit, beta type, 5; proteasome beta 5 subunit; proteasome catalytic subunit 3; proteasome chain 6; proteasome epsilon chain; proteasome subunit MB1; proteasome subunit X; proteasome subunit beta 5; proteasome subunit beta type-5 isoform 2; proteasome subunit, beta type, 5; testicular tissue protein Li 153", "tax_id": 9606, "disease": "proteasome-associated autoinflammatory syndrome 1 (Disease Ontology:DOID:0050553); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:5693); (R-HSA-1169091); (R-HSA-1234176); (R-HSA-1236974); (R-HSA-1236978); (R-HSA-174084); (R-HSA-174113); (R-HSA-174154); (R-HSA-174178); (R-HSA-174184); (R-HSA-180534); (R-HSA-180585); (R-HSA-187577); (R-HSA-195253); (R-HSA-202424); (R-HSA-211733); (R-HSA-2467813); (R-HSA-2871837); (R-HSA-349425); (R-HSA-350562); (R-HSA-382556); (R-HSA-450408); (R-HSA-4608870); (R-HSA-4641257); (R-HSA-4641258); (R-HSA-5358346); (R-HSA-5362768); (R-HSA-5607761); (R-HSA-5607764); (R-HSA-5610780); (R-HSA-5610783); (R-HSA-5610785); (R-HSA-5632684); (R-HSA-5658442); (R-HSA-5668541); (R-HSA-5676590); (R-HSA-5678895); (R-HSA-5687128); (R-HSA-5689603); (R-HSA-5689880); (R-HSA-68867); (R-HSA-68949); (R-HSA-69017); (R-HSA-69481); (R-HSA-69601); (R-HSA-75815); (R-HSA-8852276); (R-HSA-8854050); (R-HSA-8939236); (R-HSA-8939902); (R-HSA-8941858); (R-HSA-8948751); (R-HSA-8951664); (R-HSA-9010553); (R-HSA-9020702); (R-HSA-9604323); (R-HSA-9755511); (R-HSA-9762114); (R-HSA-9766229); (R-HSA-9824272); (R-HSA-983168); (R-HSA-9907900); (R-HSA-9912633); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 69, "publication_count": 1061, "publication_id_list": 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"class_list": "", "function": "Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Within the 20S core complex, PSMB5 displays a chymotrypsin-like activity., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; MiR-383 sensitizes osteosarcoma cells to bortezomib treatment via down-regulating PSMB5. Publication Status: Online-Only, [RefSeq, PubMed]; PSMB5 overexpression is correlated with tumor proliferation and poor prognosis in hepatocellular carcinoma., [RefSeq, PubMed]; The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the proteasome B-type family, also known as the T1B family, that is a 20S core beta subunit in the proteasome. This catalytic subunit is not present in the immunoproteasome and is replaced by catalytic subunit 3i (proteasome beta 8 subunit). Multiple transcript variants encoding different isoforms have been found for this gene. [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": 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": 3, "reported_glycation": 0, "reported_snv": 13, "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": "B2R4N9;B4DUM9;D3DS43;E9PAV2;Q16242;Q6PEW2;Q7Z3B5;Q86T01;Q9TNN9", "ec_number_list": [ { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "2.3.2.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.24", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "2.7.11.22", "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": "4.1.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.17", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "3.4.25.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.25.1", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.11.24", "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" }, { "id": "3.6.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.6", "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": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "2.3.2.32", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.32", "type": "external" }, { "id": "2.3.2.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.26", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "1.14.11.29", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.29", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "type": "external" } ], "go_molecular_function": "GO:0004175 endopeptidase activity;GO:0008233 peptidase activity;GO:0004298 threonine-type endopeptidase activity", "go_cellular_component": "GO:0034515 proteasome storage granule;GO:0019774 proteasome core complex, beta-subunit complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0071357 cellular response to type I interferon;GO:0006281 DNA repair;GO:0006508 proteolysis;GO:0006979 response to oxidative stress;GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 106.6, "record_id": "P28074-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96EE3-2", "uniprot_id": [ { "id": "SEH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96EE3", "type": "external" } ], "mass": 39649.0, "length": 360, "protein_name": "Nucleoporin SEH1", "gene_name": "SEH1L", "organism": "Human", "refseq_name": "nucleoporin SEH1 isoform 1", "refseq_ac": [ { "id": "NP_001013455", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013455", "type": "external" } ], "gene_names_uniprotkb": "SEH1L; SEC13L; SEH1", "gene_names_refseq": "SEC13L; SEH1A; SEH1B; SEH1L; Seh1", "protein_names_uniprotkb": "Nucleoporin SEH1; GATOR2 complex protein SEH1; Nup107-160 subcomplex subunit SEH1; SEC13-like protein", "protein_names_refseq": "GATOR complex protein SEH1; GATOR2 complex protein SEH1; SEC13-like protein; nucleoporin SEH1 isoform 1; nucleoporin Seh1; nup107-160 subcomplex subunit SEH1; sec13 like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:81929); (R-HSA-9639288)", "pathway_count": 2, "publication_count": 106, "publication_id_list": "12196509;14517296;15146057;15854902;15878852;16098514;17360435;17363900;17470430;18497260;18604198;20068231;20112406;20381137;22053050;22121020;22575674;22980980;23186163;23481700;23723238;24081491;24095279;24366607;24715725;25259925;25263562;25418920;25457612;25561175;25567906;25576301;25810538;25819761;26154972;26449471;26586190;26811146;26929215;26972053;26992070;27308486;27487210;27600516;27648300;27846572;27862975;27920218;28066558;28199306;28199315;28218747;28228285;28649982;28832583;28834231;28904123;29053970;29056322;29123071;29236692;29242379;29331515;29393594;29437277;29557506;29618633;29632046;29632711;29786170;30061680;30181260;30315122;30410026;30429286;30651352;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33214551;33298915;33592498;33691108;33717175;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34725712;35051231;35561310;35580925;35831510;36010968;36528027;7499430", "class_list": "", "function": "Analysis reveals a role for Seh1 at human centromeres, where it is required for efficient localisation of the chromosomal passenger complex (CPC). Publication Status: Online-Only, [RefSeq, PubMed]; As a component of the GATOR2 complex, functions as an activator of the amino acid-sensing branch of the mTORC1 signaling pathway (PubMed:23723238, PubMed:25457612, PubMed:27487210, PubMed:35831510, PubMed:36528027). The GATOR2 complex indirectly activates mTORC1 through the inhibition of the GATOR1 subcomplex (PubMed:23723238, PubMed:27487210, PubMed:35831510, PubMed:36528027). GATOR2 probably acts as an E3 ubiquitin-protein ligase toward GATOR1 (PubMed:36528027). 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). In the absence of amino acids, GATOR2 is inhibited, activating the GATOR1 complex (PubMed:25457612, PubMed:26972053, PubMed:27487210). Within the GATOR2 complex, SEC13 and SEH1L are required to stabilize the complex (PubMed:35831510)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Component of the Nup107-160 subcomplex of the nuclear pore complex (NPC). The Nup107-160 subcomplex is required for the assembly of a functional NPC (PubMed:15146057, PubMed:17363900). The Nup107-160 subcomplex is also required for normal kinetochore microtubule attachment, mitotic progression and chromosome segregation. This subunit plays a role in recruitment of the Nup107-160 subcomplex to the kinetochore (PubMed:15146057, PubMed:17363900)., [UniProtKB, PubMed, PubMed]; Sec13 stably interacts with Nup96 at the NPC during interphase and the shuttling of Sec13 between the nucleus and the cytoplasm may couple and regulate functions between these two compartments, [RefSeq, PubMed]; The protein encoded by this gene is part of a nuclear pore complex, Nup107-160. This protein contains WD repeats and shares 34% amino acid identity with yeast Seh1 and 30% identity with yeast Sec13. All constituents of the Nup107-160 complex, including this protein, specifically localize to kinetochores in mitosis. 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K5B1;Q8NFU6;Q96MH3;Q9C069", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0031080 nuclear pore outer ring;GO:0005635 nuclear envelope;GO:0005829 cytosol;GO:0005765 lysosomal membrane;GO:0000776 kinetochore", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0051315 attachment of mitotic spindle microtubules to kinetochore;GO:0006999 nuclear pore organization;GO:0006913 nucleocytoplasmic transport;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 10.9, "record_id": "Q96EE3-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q04323-1", "uniprot_id": [ { "id": "UBXN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q04323", "type": "external" } ], "mass": 33325.0, "length": 297, "protein_name": "UBX domain-containing protein 1", "gene_name": "UBXN1", "organism": "Human", "refseq_name": "UBX domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001273006", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273006", "type": "external" } ], "gene_names_uniprotkb": "UBXN1; SAKS1", "gene_names_refseq": "2B28; SAKS1; UBXD10; UBXN1", "protein_names_uniprotkb": "UBX domain-containing protein 1; SAPK substrate protein 1; UBA/UBX 33.3 kDa protein", "protein_names_refseq": "SAPK substrate protein 1; UBA/UBX 33.3 kDa protein; UBX domain-containing protein 1 isoform 2; UBX domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51035); (R-HSA-532668); (R-HSA-5693565)", "pathway_count": 3, "publication_count": 145, "publication_id_list": "10550055;10724175;10766245;10788335;10802669;10866324;10929008;10959836;10973490;11025670;11114888;11237011;11390408;11571274;11573085;11893489;11927591;11934988;12114544;12145188;12364621;12447390;12485996;12607003;12607005;12697768;12773400;12792649;12832489;12890688;14560035;15064416;15201865;15215856;15279782;15358861;15362974;15944415;16055502;16150728;16168377;16377563;16427009;16651405;17525332;17525340;17553757;17848578;18001824;18001825;18006705;18077395;18443292;18524852;18644861;18669648;18775313;19001859;19092802;19117993;19176521;19203578;19203579;19234442;19261749;19351884;19690332;19782031;20016603;20023648;20351172;21135095;21282113;21293379;22234877;22373579;22508508;22589545;22908299;22980979;23186163;23301498;23545497;24275569;24667604;24715725;25576301;25681446;25802875;26154972;26611529;26992070;27862975;27920218;28152074;28228285;28510447;28832583;28904123;29093164;29242379;29393594;29508533;29557506;29769705;30429286;30524438;30779550;30833945;31154438;31844290;31848261;31937595;32157095;32350084;32387766;32488085;32502341;32938616;32983136;33214551;33298915;33392160;33592498;33717175;33754075;33968037;34019948;34171305;34211107;34246306;34509645;34932366;35051231;35251023;35318648;35580925;36284347;38240906;38294905;38773518;40914422;8944023;9168116;9488723", "class_list": "", "function": "Data suggest that UBXN1 regulates the enzymatic function of BRCA1 in a manner that is dependent on its ubiquitination status., [RefSeq, PubMed]; LncRNA PRADX-mediated recruitment of PRC2/DDX5 complex suppresses UBXN1 expression and activates NF-kappaB activity, promoting tumorigenesis. Publication Status: Online-Only, [RefSeq, PubMed]; SAKS1 inhibits protein degradation mediated by p97 complexes in the cytosol with a component of the mechanism being the ability to shield polyubiquitin chains from ubiquitin-processing factors., [RefSeq, PubMed]; SUB1 promotes colorectal cancer metastasis by activating NF-kappaB signaling via UBR5-mediated ubiquitination of UBXN1., [RefSeq, PubMed]; Specific interaction of rat protein 2B28 with rat Homer2 may play a role in regulation of protein degradation by ubiquitin-proteasome systems and that this function may be specific to Homer2 proteins among Homer family proteins., [RefSeq, PubMed]; UBXN1 promotes liver tumorigenesis by regulating mitochondrial homeostasis. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin-binding protein that plays a role in the modulation of innate immune response. Blocks both the RIG-I-like receptors (RLR) and NF-kappa-B pathways. Following viral infection, UBXN1 is induced and recruited to the RLR component MAVS. In turn, interferes with MAVS oligomerization, and disrupts the MAVS/TRAF3/TRAF6 signalosome. This function probably serves as a brake to prevent excessive RLR signaling (PubMed:23545497). Interferes with the TNFalpha-triggered NF-kappa-B pathway by interacting with cellular inhibitors of apoptosis proteins (cIAPs) and thereby inhibiting their recruitment to TNFR1 (PubMed:25681446). Also prevents the activation of NF-kappa-B by associating with CUL1 and thus inhibiting NF-kappa-B inhibitor alpha/NFKBIA degradation that remains bound to NF-kappa-B (PubMed:28152074). Interacts with the BRCA1-BARD1 heterodimer and regulates its activity. Specifically binds 'Lys-6'-linked polyubiquitin chains. Interaction with autoubiquitinated BRCA1 leads to the inhibition of the E3 ubiquitin-protein ligase activity of the BRCA1-BARD1 heterodimer (PubMed:20351172). Component of a complex required to couple deglycosylation and proteasome-mediated degradation of misfolded proteins in the endoplasmic reticulum that are retrotranslocated in the cytosol., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; YTHDF2 facilitates UBXN1 mRNA decay by recognizing METTL3-mediated m(6)A modification to activate NF-kappaB and promote the malignant progression of glioma. 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": 5, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q9BV93;Q9BVV5", "ec_number_list": [], "go_molecular_function": "GO:0036435 K48-linked polyubiquitin modification-dependent protein binding;GO:0071796 K6-linked polyubiquitin modification-dependent protein binding;GO:0031593 polyubiquitin modification-dependent protein binding;GO:0051117 ATPase binding;GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0034098 VCP-NPL4-UFD1 AAA ATPase complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0031397 negative regulation of protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0032435 negative regulation of proteasomal ubiquitin-dependent protein catabolic process;GO:1904293 negative regulation of ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "Q04323-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4D5-1", "uniprot_id": [ { "id": "NXF3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4D5", "type": "external" } ], "mass": 60102.0, "length": 531, "protein_name": "Nuclear RNA export factor 3", "gene_name": "NXF3", "organism": "Human", "refseq_name": "nuclear RNA export factor 3", "refseq_ac": [ { "id": "NP_071335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071335", "type": "external" } ], "gene_names_uniprotkb": "NXF3; TAPL3", "gene_names_refseq": "NXF3", "protein_names_uniprotkb": "Nuclear RNA export factor 3; TAP-like protein 3; TAPL-3", "protein_names_refseq": "TAP-like protein 3; TAPL-3; nuclear RNA export factor 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:56000)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11073998;11237011;11545741;11566096;29242379;29274323;31092671;31217245;32897882;33968037;34561969;35051231", "class_list": "", "function": "May function as a tissue-specific nuclear mRNA export factor., [UniProtKB]; Observations collectively demonstrate that AF119895 modulates the repression of NXF3 by binding to miR-6508-3p, [RefSeq, PubMed]; This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene has shortened LRR and ubiquitin-associated domains and its RDB is unable to bind RNA. It is located in the nucleoplasm but is not associated with either the nuclear envelope or the nucleolus. [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": 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": "B4DYS7;Q5H9I1;Q9H1A9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0042272 nuclear RNA export factor complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0016973 poly(A)+ mRNA export from nucleus;GO:0006406 mRNA export from nucleus", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9H4D5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PGP7-1", "uniprot_id": [ { "id": "SKI3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PGP7", "type": "external" } ], "mass": 175486.0, "length": 1564, "protein_name": "Superkiller complex protein 3", "gene_name": "SKIC3", "organism": "Human", "refseq_name": "superkiller complex protein 3", "refseq_ac": [ { "id": "NP_055454", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055454", "type": "external" } ], "gene_names_uniprotkb": "SKIC3; KIAA0372; TTC37", "gene_names_refseq": "KIAA0372; SKIC3; Ski3; THES; TTC37", "protein_names_uniprotkb": "Superkiller complex protein 3; Ski3; TPR repeat protein 37; Tetratricopeptide repeat protein 37; Thespin; Tricho-hepatic-enteric syndrome protein", "protein_names_refseq": "SKI complex component SKI3; SKI3 homolog; SKI3 subunit of superkiller complex protein; TPR repeat protein 37; superkiller complex protein 3; tetratricopeptide repeat domain 37; thespin; tricho-hepatic-enteric syndrome protein", "tax_id": 9606, "disease": "trichohepatoenteric syndrome (Disease Ontology:DOID:0111414); trichohepatoenteric syndrome 1 (Disease Ontology:DOID:0111415)", "pathway": " (hsa:9652); (R-HSA-429958)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "11237011;11283721;14749774;15068804;15231747;15273322;15475613;15769464;16024656;16141059;17174896;17245413;17545563;18441014;19060886;19225159;19239894;20176027;21120949;23223233;23481700;25576301;25880248;26154972;26811146;26992070;27600516;27846572;27862975;27920218;28510447;28832583;28904123;29242379;29383842;29437277;29527791;29557506;30315122;30410026;30429286;31530632;31844290;32006463;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33912179;33936100;33968037;34037310;34087483;34171305;34185709;34357683;34509645;34561969;34725712;35051231;35120588;35318648;35494241;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "Component of the SKI complex, a multiprotein complex that assists the RNA-degrading exosome during the mRNA decay and quality-control pathways (PubMed:16024656, PubMed:32006463, PubMed:35120588). The SKI complex catalyzes mRNA extraction from 80S ribosomal complexes in the 3'-5' direction and channels mRNA to the cytosolic exosome for degradation (PubMed:32006463, PubMed:35120588). SKI-mediated extraction of mRNA from stalled ribosomes allow binding of the Pelota-HBS1L complex and subsequent ribosome disassembly by ABCE1 for ribosome recycling (PubMed:32006463). In the nucleus, the SKI complex associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C) (PubMed:16024656)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Expanding the clinical spectrum in trichohepatoenteric syndrome., [RefSeq, PubMed]; Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)., [RefSeq, PubMed]; TTC37 is widely expressed, with high levels in vascular tissues, lymph node, pituitary, lung, and intestine. In contrast, TTC37 is not expressed in the liver, an organ that is not consistently affected in tricho-hepato-enteric syndrome, [RefSeq, PubMed]; This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]., [RefSeq]; We present seven patients from two families with a new mutation in TTC37. The phenotype is classic, but the disease course is milder, with better intra- and extrauterine growth, less need for parenteral nutrition, and better chance of survival., [RefSeq, PubMed]; We then examined the lab diagnostic cohort in detail for clinical manifestations. For the first time, we are able to suggest that patients lacking SKIV2L seem more severely affected than those lacking TTC37, in terms of liver damage and prenatal growth impairment. 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": 0, "reported_glycation": 0, "reported_snv": 33, "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": "O15077;Q6PJI3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0055087 Ski complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0072344 rescue of stalled ribosome;GO:0070478 nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay;GO:0000956 nuclear-transcribed mRNA catabolic process;GO:0006401 RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q6PGP7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0JP26-1", "uniprot_id": [ { "id": "POTB3_HUMAN", "url": "https://www.uniprot.org/uniprot/A0JP26", "type": "external" } ], "mass": 65710.0, "length": 581, "protein_name": "POTE ankyrin domain family member B3", "gene_name": "POTEB3", "organism": "Human", "refseq_name": "POTE ankyrin domain family member B3", "refseq_ac": [ { "id": "NP_997238", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997238", "type": "external" } ], "gene_names_uniprotkb": "POTEB3", "gene_names_refseq": "POTE-15; POTEB3", "protein_names_uniprotkb": "POTE ankyrin domain family member B3", "protein_names_refseq": "ANKRD26-like family B member 1; POTE ankyrin domain family member B3; POTE ankyrin domain family, member B-like; prostate, ovary, testis-expressed protein on chromosome 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:102724631)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "15276201;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": "A0A096LPD0;Q6NXN7;Q6S5H4;Q6S5H7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A0JP26-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H255-1", "uniprot_id": [ { "id": "O51E2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H255", "type": "external" } ], "mass": 35493.0, "length": 320, "protein_name": "Olfactory receptor 51E2", "gene_name": "OR51E2", "organism": "Human", "refseq_name": "olfactory receptor 51E2", "refseq_ac": [ { "id": "NP_110401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_110401", "type": "external" } ], "gene_names_uniprotkb": "OR51E2; PSGR", "gene_names_refseq": "HPRAJ; OR51E2; OR51E3P; OR52A2; PSGR", "protein_names_uniprotkb": "Olfactory receptor 51E2; HPRAJ; Olfactory receptor OR11-16; Prostate-specific G protein-coupled receptor", "protein_names_refseq": "olfactory receptor 51E2; olfactory receptor OR11-16; olfactory receptor, family 51, subfamily E, member 3 pseudogene; olfactory receptor, family 52, subfamily A, member 2; prostate-specific G-protein coupled receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:81285); (R-HSA-381753); (R-HSA-9752946)", "pathway_count": 3, "publication_count": 36, "publication_id_list": "10460249;11118034;11237011;11707321;14983052;15598656;16491480;17601748;17873857;17973576;19389702;19474308;19581598;23401498;24316890;24800820;25784876;25977809;26373539;27226631;27515280;27543614;27916747;27916748;28656349;29235485;29249973;29557506;29892571;31040214;31974307;32066986;32705281;33164833;33640452;36922591", "class_list": "", "function": "Coexpression of peripheral olfactory receptors with SARSCoV2 infection mediators: Potential implications beyond loss of smell as a COVID19 symptom., [RefSeq, PubMed]; Ectopically expressed olfactory receptors OR51E1 and OR51E2 suppress proliferation and promote cell death in a prostate cancer cell line., [RefSeq, PubMed]; Exosome carrying PSGR promotes stemness and epithelial-mesenchymal transition of low aggressive prostate cancer cells., [RefSeq, PubMed]; Olfactory receptor (PubMed:27226631, PubMed:29249973). Activated by the odorant, beta-ionone, a synthetic terpenoid (PubMed:19389702, PubMed:27226631, PubMed:29249973). The activity of this receptor is probably mediated by G proteins leading to the elevation of intracellular Ca(2+), cAMP and activation of the protein kinases PKA and MAPK3/MAPK1 (PubMed:27226631, PubMed:29249973). Stimulation of OR51E2 by beta-ionone affects melanocyte proliferation, differentiation, and melanogenesis (PubMed:27226631). Activation of OR51E2 by beta-ionone increases proliferation and migration of primary retinal pigment epithelial (RPE) cells (PubMed:29249973). Activated also by the short-chain fatty acids (SCFA) acetate and propionate. In response to SCFA, may positively regulate renin secretion and increase blood pressure (PubMed:23401498). May also be activated by steroid hormones and regulate cell proliferation (PubMed:19389702). Activated by L-lactate in glomus cells (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed]; Olfactory receptor OR51E2, also known as a Prostate Specific G-Protein Receptor, is highly expressed in prostate cancer. We identified 24 agonists and 1 antagonist for this receptor. We detected that agonist 19-hydroxyandrostenedione, a product of the aromatase reaction, is endogenously produced upon receptor activation and contributes to neuroendocrine transdifferentiation of prostate cancer LNCaP cells. Publication Status: Online-Only, [RefSeq, PubMed]; Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]., [RefSeq]; Structural basis of odorant recognition by a human odorant receptor., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RA63;Q6IF94", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0003707 nuclear steroid receptor activity;GO:0004984 olfactory receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031901 early endosome membrane;GO:0016020 membrane", "go_biological_process": "GO:1900135 positive regulation of renin secretion into blood stream;GO:0097325 melanocyte proliferation;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0016477 cell migration;GO:0045777 positive regulation of blood pressure", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9H255-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60806-1", "uniprot_id": [ { "id": "TBX19_HUMAN", "url": "https://www.uniprot.org/uniprot/O60806", "type": "external" } ], "mass": 48238.0, "length": 448, "protein_name": "T-box transcription factor TBX19", "gene_name": "TBX19", "organism": "Human", "refseq_name": "T-box transcription factor TBX19", "refseq_ac": [ { "id": "NP_005140", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005140", "type": "external" } ], "gene_names_uniprotkb": "TBX19; TPIT", "gene_names_refseq": "TBS19; TBX19; TPIT; dJ747L4.1", "protein_names_uniprotkb": "T-box transcription factor TBX19; T-box factor, pituitary; T-box protein 19", "protein_names_refseq": "T-box 19; T-box factor, pituitary; T-box protein 19; T-box transcription factor TBX19; TBS 19", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); adrenocorticotropic hormone deficiency (Disease Ontology:DOID:0080150); inherited metabolic disorder (Disease Ontology:DOID:655)", "pathway": " (hsa:9095)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;11290323;11916612;12651888;31530632;33298915;33423260;35217793;35218667;36890856;37726450;9888994", "class_list": "", "function": "A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin. Publication Status: Online-Only, [RefSeq, PubMed]; Heterogeneity of TPIT expression in ACTH-secreting extra-pituitary neuroendocrine tumors (NETs) supports the existence of different cellular programs in pancreatic and pulmonary NETs., [RefSeq, PubMed]; Review. Association of 2 mutations with an ACTH deficiency is consistent with the role of tbx19 in differentiation of POMC cells. Review article, [RefSeq, PubMed]; T-box transcription factor 19 promotes hepatocellular carcinoma metastasis through upregulating EGFR and RAC1., [RefSeq, PubMed]; TPIT has a role in expression of the pro-opiomelanocortin gene and terminal differentiation of the pituitary corticotroph lineage, and its mutation causes early onset pituitary ACTH deficiency, [RefSeq, PubMed]; TRIM65 determines the fate of a novel subtype of pituitary neuroendocrine tumors via ubiquitination and degradation of TPIT., [RefSeq, PubMed]; This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional regulator involved in developmental processes. Can activate POMC gene expression and repress the alpha glycoprotein subunit and thyroid-stimulating hormone beta promoters., [UniProtKB, PubMed]; [Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency]., [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": 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": "Q52M53", "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:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0001708 cell fate specification;GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0003007 heart morphogenesis;GO:0001707 mesoderm formation", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "O60806-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43557-1", "uniprot_id": [ { "id": "TNF14_HUMAN", "url": "https://www.uniprot.org/uniprot/O43557", "type": "external" } ], "mass": 26350.0, "length": 240, "protein_name": "Tumor necrosis factor ligand superfamily member 14", "gene_name": "TNFSF14", "organism": "Human", "refseq_name": "tumor necrosis factor ligand superfamily member 14 isoform 1", "refseq_ac": [ { "id": "NP_003798", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003798", "type": "external" } ], "gene_names_uniprotkb": "TNFSF14; HVEML; LIGHT; PRO726", "gene_names_refseq": "CD258; HVEML; LIGHT; LTg; TNFSF14", "protein_names_uniprotkb": "Tumor necrosis factor ligand superfamily member 14; HVEM-L; Herpes virus entry mediator ligand; Herpesvirus entry mediator ligand", "protein_names_refseq": "herpesvirus entry mediator ligand; tumor necrosis factor (ligand) superfamily, member 14; tumor necrosis factor ligand 1D; tumor necrosis factor ligand superfamily member 14 isoform 1; tumor necrosis factor superfamily member 14", "tax_id": 9606, "disease": "IgA glomerulonephritis (Disease Ontology:DOID:2986)", "pathway": " (hsa:8740); (R-HSA-5668541); (R-HSA-5669034); (R-HSA-5676594)", "pathway_count": 4, "publication_count": 109, "publication_id_list": "10074428;10085077;10359578;10398604;10484778;10597252;10615125;10754304;10797013;11237011;11571266;11673523;11728344;11853672;11882293;11911831;12189164;12374738;12529173;12571250;12721620;12787562;12949498;12975309;14656435;15084608;15356117;15368291;15470070;15585864;15644327;15824857;16501042;1655907;17632511;17636564;18292551;18571443;18606301;18635759;18997792;18997794;19241374;19426221;19815541;20032458;20222921;20307208;20385556;20483727;20510730;20979233;21081755;21091114;21300286;22197273;22664871;22801960;23667509;24070496;24248355;24298274;24432023;25087510;25152365;25418920;25502872;26811146;28218747;28228285;28904123;29242379;29393594;29437277;29632046;30315122;31844290;32265295;32350084;32983136;33298915;33912179;34357683;34433824;34932366;35051231;35154160;35494241;37408308;37552689;37722959;38235898;38740147;7544915;7639698;7913952;8120384;8521496;8663299;8702708;8871664;9122217;9247583;9367155;9462508;9718306;9765287;9852070;9878548", "class_list": "", "function": "Cytokine that binds to TNFRSF3/LTB and TNFRSF14/HVEM and plays major roles in immune system regulation (PubMed:10754304, PubMed:9462508). Upon binding to TNFRSF14/HVEM, delivers costimulatory signals to T cells, leading to T cell proliferation and IFNG production (PubMed:10754304). Binds to the decoy receptor TNFRSF6B thereby disrupts the activation signal initiated by TNFSF14, resulting in reduced T-cell activation (PubMed:25087510)., [UniProtKB, PubMed, PubMed, PubMed]; Increased expression of TNFRSF14 and LIGHT in biliary epithelial cells of patients with primary sclerosing cholangitis., [RefSeq, PubMed]; LIGHT (TNFSF14) promotes the differentiation of human bone marrow-derived mesenchymal stem cells into functional hepatocyte-like cells. Publication Status: Online-Only, [RefSeq, PubMed]; LIGHT/TNFSF14 promotes CAR-T cell trafficking and cytotoxicity through reversing immunosuppressive tumor microenvironment., [RefSeq, PubMed]; TNFSF14 mediates the impact of docosahexaenoic acid on atopic dermatitis: a Mendelian randomization study., [RefSeq, PubMed]; The protein encoded by this gene is a member of the tumor necrosis factor (TNF) ligand family. This protein is a ligand for TNFRSF14, which is a member of the tumor necrosis factor receptor superfamily, and which is also known as a herpesvirus entry mediator (HVEM). This protein may function as a costimulatory factor for the activation of lymphoid cells and as a deterrent to infection by herpesvirus. This protein has been shown to stimulate the proliferation of T cells, and trigger apoptosis of various tumor cells. This protein is also reported to prevent tumor necrosis factor alpha mediated apoptosis in primary hepatocyte. Two alternatively spliced transcript variant 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": 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": 1, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K7M2;C9J5H4;O75476;Q6FHA1;Q8WVF8;Q96LD2", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0005125 cytokine activity;GO:0043027 cysteine-type endopeptidase inhibitor activity involved in apoptotic process;GO:0005164 tumor necrosis factor receptor binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006955 immune response;GO:0007165 signal transduction;GO:0007166 cell surface receptor signaling pathway;GO:0043066 negative regulation of apoptotic process;GO:1901224 positive regulation of non-canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "O43557-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75787-1", "uniprot_id": [ { "id": "RENR_HUMAN", "url": "https://www.uniprot.org/uniprot/O75787", "type": "external" } ], "mass": 39008.0, "length": 350, "protein_name": "Renin receptor", "gene_name": "ATP6AP2", "organism": "Human", "refseq_name": "renin receptor precursor", "refseq_ac": [ { "id": "NP_005756", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005756", "type": "external" } ], "gene_names_uniprotkb": "ATP6AP2; ATP6IP2; CAPER; ELDF10; HT028; MSTP009; PSEC0072", "gene_names_refseq": "(P)RR; APT6M8-9; ATP6AP2; ATP6IP2; ATP6M8-9; CDG2R; ELDF10; HT028; M8-9; MRXE; MRXSH; MSTP009; PRR; RENR; XMRE; XPDS", "protein_names_uniprotkb": "Renin receptor; ATP6M8-9; ATPase H(+)-transporting lysosomal accessory protein 2; ATPase H(+)-transporting lysosomal-interacting protein 2; ER-localized type I transmembrane adapter; Embryonic liver differentiation factor 10; N14F; Renin/prorenin receptor; V-ATPase M8.9 subunit; Vacuolar ATP synthase membrane sector-associated protein M8-9", "protein_names_refseq": "ATPase H(+)-transporting lysosomal-interacting protein 2; ATPase, H+ transporting, lysosomal (vacuolar proton pump) membrane sector associated protein M8-9; ATPase, H+ transporting, lysosomal accessory protein 2; ATPase, H+ transporting, lysosomal interacting protein 2; ER-localized type I transmembrane adapter; ER-localized type I transmembrane adaptor; N14F; V-ATPase M8.9 subunit; embryonic liver differentiation factor 10; renin receptor precursor; renin receptor; renin/prorenin receptor; vacuolar ATP synthase membrane sector-associated protein M8-9; vacuolar proton ATP synthase membrane sector associated protein M8-9", "tax_id": 9606, "disease": "congenital disorder of glycosylation type IIr (Disease Ontology:DOID:0051048); syndromic X-linked intellectual disability (Disease Ontology:DOID:0060309); syndromic X-linked intellectual disability Hedera type (Disease Ontology:DOID:0060806); X-linked parkinsonism-spasticity syndrome (Disease Ontology:DOID:0112105); hypertension (Disease Ontology:DOID:10763); congenital disorder of glycosylation (Disease Ontology:DOID:5212)", "pathway": " (hsa:10159); (R-HSA-2022377); (R-HSA-6798695)", "pathway_count": 3, "publication_count": 166, "publication_id_list": "10536878;10899625;10924499;10931946;10969042;11237011;11502696;11815627;12045255;12540854;12927775;14747736;14978097;15283675;15746149;16303743;1668266;16790432;17138938;17704566;1848554;1851160;18512783;18991276;19800993;20112406;20380117;20889553;20934997;21081667;21420935;22193701;22299025;2266130;22706990;23328677;23446738;23481700;23595882;23650620;23719902;23783831;24029068;24141856;2443571;24714562;24715725;25418920;25502872;25505266;25576301;2558510;25645385;26154972;26375851;26728094;26758079;26992070;2708524;27090790;27452731;27543614;27600516;27726376;27846572;27862975;27920218;28063628;28228285;2846041;28467828;28514659;28649982;28832583;28834231;28904123;29127204;29242379;29314611;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;3017438;30315122;30374053;30484775;30573663;30779550;30833945;30985297;31092671;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31937595;31998317;32157095;32161166;32276428;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33065002;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34509645;34561969;34932366;35051231;35154160;35251023;35318648;35401936;35561310;35580925;35672408;35779466;36010968;36153775;36215666;36241641;36284347;37938771;383475;38593795;4289389;4322712;4330891;4360430;6269175;6270633;6303766;6807977;7980644;8692836;9169443;9556572;9570564", "class_list": "", "function": "Expression cloning of the human renin receptor complementary DNA encoding a 350-amino acid protein with a single transmembrane domain and no homology with any known membrane protein, [RefSeq, PubMed]; Human V-ATPase function is positively and negatively regulated by TLDc proteins., [RefSeq, PubMed]; Multifunctional protein which functions as a renin, prorenin cellular receptor and is involved in the assembly of the lysosomal proton-transporting V-type ATPase (V-ATPase) and the acidification of the endo-lysosomal system (PubMed:12045255, PubMed:29127204, PubMed:30374053, PubMed:32276428). May mediate renin-dependent cellular responses by activating ERK1 and ERK2 (PubMed:12045255). By increasing the catalytic efficiency of renin in AGT/angiotensinogen conversion to angiotensin I, may also play a role in the renin-angiotensin system (RAS) (PubMed:12045255). Through its function in V-type ATPase (v-ATPase) assembly and acidification of the lysosome it regulates protein degradation and may control different signaling pathways important for proper brain development, synapse morphology and synaptic transmission (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations., [RefSeq, PubMed]; Role of the prorenin receptor in endometrial cancer cell growth. Publication Status: Online-Only, [RefSeq, PubMed]; Targeting the (pro)renin receptor in cancers: from signaling to pathophysiological effects. Review article, [RefSeq, PubMed]; This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [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": 6, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z9I3;Q5QTQ7;Q6T7F5;Q8NBP3;Q8NG15;Q96FV6;Q96LB5;Q9H2P8;Q9UG89", "ec_number_list": [], "go_molecular_function": "GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0000421 autophagosome membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0030424 axon", "go_biological_process": "GO:0060323 head morphogenesis;GO:0032914 positive regulation of transforming growth factor beta1 production;GO:0021903 rostrocaudal neural tube patterning;GO:0002003 angiotensin maturation;GO:0090263 positive regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "O75787-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRZ7-1", "uniprot_id": [ { "id": "PLCC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRZ7", "type": "external" } ], "mass": 43381.0, "length": 376, "protein_name": "1-acyl-sn-glycerol-3-phosphate acyltransferase gamma", "gene_name": "AGPAT3", "organism": "Human", "refseq_name": "1-acyl-sn-glycerol-3-phosphate acyltransferase gamma isoform 1", "refseq_ac": [ { "id": "NP_001032642", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032642", "type": "external" } ], "gene_names_uniprotkb": "AGPAT3; LPAAT3; PRO1490", "gene_names_refseq": "1-AGPAT 3; AGPAT3; LPAAT-GAMMA1; LPAAT3; LPLAT3", "protein_names_uniprotkb": "1-acyl-sn-glycerol-3-phosphate acyltransferase gamma; 1-AGP acyltransferase 3; 1-AGPAT 3; 1-acylglycerol-3-phosphate O-acyltransferase 3; 2.3.1.51; LPAAT-gamma; Lysophosphatidic acid acyltransferase gamma", "protein_names_refseq": "1-AGP acyltransferase 3; 1-acyl-sn-glycerol-3-phosphate acyltransferase gamma isoform 1; 1-acyl-sn-glycerol-3-phosphate acyltransferase gamma; lysophosphatidic acid acyltransferase gamma; lysophosphatidic acid acyltransferase-gamma1; lysophospholipid acyltransferase 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:56894); (R-HSA-1483166); (R-HSA-6811436)", "pathway_count": 3, "publication_count": 127, "publication_id_list": "10359595;10455175;10506173;10553003;10559986;10562278;10681567;11031251;11080672;11112443;11237011;11483508;11487472;11788596;11830583;12063250;12161451;12359733;12401177;12432908;12447383;12522102;12925777;12963729;12975309;14573790;15367102;15483056;15914536;16207721;16314391;16460752;16495223;16620771;16704971;16864775;17028579;17170135;17488286;17707131;17827179;18238778;18452278;18641641;18664496;18718904;19336658;19635840;19666841;19753100;20420828;20537980;20705608;21173190;22130221;22299025;22562055;22777291;22922100;23176821;23176823;23333653;23481700;23783758;23807634;24891604;24966474;25233431;25418920;25453831;26375851;26711011;26992070;27600516;28063628;28228285;28514659;28649982;28832583;28834231;28904123;29242379;2925608;29493099;29557506;29632046;30315122;30410026;30429286;30833945;31154438;31217245;31844290;31848261;31998317;32157095;32357974;32488085;32502341;32897882;32983136;33592498;33633747;33717175;33912179;34087483;34357683;3458202;34932366;35580925;36284347;37821758;7060561;7821823;8163052;8186247;8300559;8530346;8687421;9030515;9050864;9188469;9212163;9461603;9582313;9671731;9733780", "class_list": "", "function": "A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome., [RefSeq, PubMed]; Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (PubMed:21173190). Acts on LPA containing saturated or unsaturated fatty acids C16:0-C20:4 at the sn-1 position using C18:1, C20:4 or C18:2-CoA as the acyl donor (PubMed:21173190). Also acts on lysophosphatidylcholine, lysophosphatidylinositol and lysophosphatidylserine using C18:1 or C20:4-CoA (PubMed:21173190). Has a preference for arachidonoyl-CoA as a donor (By similarity). Also has a modest lysophosphatidylinositol acyltransferase (LPIAT) activity, converts lysophosphatidylinositol (LPI) into phosphatidylinositol (By similarity)., [UniProtKB, UniProtKB, PubMed]; Enzymatic properties, tissue distribution, and subcellular localization of human AGPAT3 and AGPAT5, [RefSeq, PubMed]; Of the two well conserved acyltransferase motifs, NHX(4)D is present in AGPAT8, whereas arginine in the EGTR motif is substituted by aspartate., [RefSeq, PubMed]; The data is consistent with a structural arrangement in which motif I is located in the cytoplasm and motif II is in the endoplasmic reticulum and Golgi lumen, suggesting a different model for AGPAT3/LPAAT3's enzymatic mechanism., [RefSeq, PubMed]; The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "D3DSL2;Q3ZCU2;Q6UWP6;Q6ZUC6;Q8N3Q7;Q9NRZ6", "ec_number_list": [ { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "2.3.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.15", "type": "external" }, { "id": "2.3.1.121", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.121", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.67", "type": "external" }, { "id": "2.3.1.n6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n6", "type": "external" }, { "id": "2.3.1.n7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.n7", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.25", "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" } ], "go_molecular_function": "GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity;GO:0016746 acyltransferase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005635 nuclear envelope;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006654 phosphatidic acid biosynthetic process;GO:0008654 phospholipid biosynthetic process;GO:0016024 CDP-diacylglycerol biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 12.8, "record_id": "Q9NRZ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15258-1", "uniprot_id": [ { "id": "RER1_HUMAN", "url": "https://www.uniprot.org/uniprot/O15258", "type": "external" } ], "mass": 22958.0, "length": 196, "protein_name": "Protein RER1", "gene_name": "RER1", "organism": "Human", "refseq_name": "protein RER1", "refseq_ac": [ { "id": "NP_008964", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008964", "type": "external" } ], "gene_names_uniprotkb": "RER1", "gene_names_refseq": "RER1", "protein_names_uniprotkb": "Protein RER1", "protein_names_refseq": "RER1 retention in endoplasmic reticulum 1 homolog; protein RER1", "tax_id": 9606, "disease": "", "pathway": " (hsa:11079)", "pathway_count": 1, "publication_count": 58, "publication_id_list": "11237011;17668005;18452278;18578522;18669648;18691976;18767875;19413330;19415658;19651622;19690332;20068231;20166139;20230923;21406692;22645359;23043097;23129766;23186163;23479743;24275569;24715725;25385046;25489052;25576301;27846572;28510447;28877262;28904123;29493099;29557506;30260951;30429286;30484775;30630537;31092671;31611695;31844290;32157095;32357974;32387766;32897882;32938616;33298915;33592498;33633747;33717175;33936100;33968037;34357683;34509645;35318648;35561310;35580925;36581221;37938771;38665916;9309388", "class_list": "", "function": "Charcot-Marie-Tooth disease-related PMP22 is trapped in the endoplasmic reticulum by calnexin-dependent retention and Rer1-mediated early Golgi retrieval systems and partly degraded by the Hrd1-mediated endoplasmic reticulum-associated degradation system. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulation of Rer1 leads to increased surface localization of Pen2, whereas overexpression of Rer1 stabilizes unassembled Pen2. Rer1 is the first identified interaction partner of mammalian transmembrane-based retention/retrieval signals., [RefSeq, PubMed]; Involved in the retention or retrieval of proteins localized in the endoplasmic reticulum from the early Golgi compartment, including the gamma-secretase complex subunit PEN-2 (PSENEN) (PubMed:17668005). Regulates intracellular trafficking of the gamma-secretase complex and amyloid-beta precursor protein (APP), thereby controlling APP levels at the cell surface and influencing the release of amyloid-beta peptides generated through gamma-secretase mediated processing of APP (PubMed:23043097). During cerebral cortex and neural stem cell development, it is required to maintain sufficient expression and activity of gamma-secretase complex at the cell surface, modulating NOTCH processing and signaling (By similarity). In addition to its role in the control of protein trafficking, the RER1-dependent Golgi apparatus-endoplasmic reticulum retrieval system may regulate proteasomal degradation of alpha-synuclein (SNCA) (PubMed:17668005, PubMed:23043097, PubMed:28877262)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; Involved in the retrieval of endoplasmic reticulum membrane proteins from the early Golgi compartment., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; RER1 is a novel and potential important mediator of elevated alphaSyn levels Publication Status: Online-Only, [RefSeq, PubMed]; RER1 modulates amyloid-beta production by altering trafficking of gamma-secretase and amyloid precursor protein., [RefSeq, PubMed]; Rer1p depletion reduced ciliary length and function by increasing gamma-secretase complex assembly and activity and, consequently, enhancing Notch signaling as well as reducing Foxj1a expression., [RefSeq, PubMed]; Study in knockout mice and genetically modified human HAP1 cell line suggests that Rer1 maintains Notch signaling by maintaining sufficient expression of the gamma-secretase complex on the cell surface and regulating neural stem cell maintenance during cerebral cortex development. Publication Status: Online-Only, [RefSeq, PubMed]; Synoviolin up-regulates amyloid beta production by targeting a negative regulator of gamma-secretase, Rer1, for degradation., [RefSeq, PubMed]; The present study has demonstrated that RER1 enhances the progression of PC through promoting cell proliferation, migration and aggressiveness. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a multi-pass membrane protein that is localized to the golgi apparatus. It is involved in the retention of endoplasmic reticulum (ER) membrane proteins in the ER and retrieval of ER membrane proteins from the early Golgi compartment to facilitate gamma-secretase complex assembly. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "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": "O95322", "ec_number_list": [], "go_molecular_function": "GO:0033130 acetylcholine receptor binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0009986 cell surface;GO:0005801 cis-Golgi network", "go_biological_process": "GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:0006621 protein retention in ER lumen;GO:0035437 maintenance of protein localization in endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "O15258-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBT6-1", "uniprot_id": [ { "id": "POLK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBT6", "type": "external" } ], "mass": 98809.0, "length": 870, "protein_name": "DNA polymerase kappa", "gene_name": "POLK", "organism": "Human", "refseq_name": "DNA polymerase kappa isoform 3", "refseq_ac": [ { "id": "NP_001332851", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001332851", "type": "external" } ], "gene_names_uniprotkb": "POLK; DINB1", "gene_names_refseq": "DINB1; DINP; POLK; POLQ", "protein_names_uniprotkb": "DNA polymerase kappa; 2.7.7.7; DINB protein; DINP", "protein_names_refseq": "DNA polymerase kappa isoform 3; polymerase (DNA directed) kappa", "tax_id": 9606, "disease": "", "pathway": " (hsa:51426); (R-HSA-5655862); (R-HSA-5656169); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210)", "pathway_count": 9, "publication_count": 130, "publication_id_list": "10518552;10620008;10801132;10856253;10887153;10984059;11006276;11024016;11058110;11237011;11784855;12145297;12414988;12444249;12952891;14517266;14630940;15199127;15296733;15475561;15533436;15590680;15661663;15916957;16246722;16337601;16611994;17000769;17043239;17322306;17466625;17466626;17948053;18079701;19074197;19153606;19170759;19279666;19492058;19940136;19941829;20227374;20660785;20952260;21143968;21282463;21628590;22081108;22700975;22721435;22772988;22859295;23000965;23143872;23481700;23593430;23686288;23731732;24366607;24402227;24449906;24485656;24648516;24714562;24715725;24768535;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26811146;26992070;27846572;27862975;28297716;28904123;29393594;29493099;29557506;30379171;30429286;30833945;31154438;31844290;31848261;31998317;32157095;32265295;32350084;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33537174;33592498;33717175;33912179;33936100;33968037;34171305;34185709;34211107;34509645;34561969;34667155;34932366;35051231;35089032;35580925;36010968;36241641;36581221;37883788;38717250;38717969;3941892;7700386;8078911;8658138;8751446;9699634;9716411;9875289", "class_list": "", "function": "Biochemical Activity of 17 Cancer-Associated Variants of DNA Polymerase Kappa Predicted by Electrostatic Properties., [RefSeq, PubMed]; Cryo-EM structure of human Pol kappa bound to DNA and mono-ubiquitylated PCNA. Publication Status: Online-Only, [RefSeq, PubMed]; DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls. Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts. Lacks 3'-5' proofreading exonuclease activity. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Effects of the Y432S Cancer-Associated Variant on the Reaction Mechanism of Human DNA Polymerase kappa., [RefSeq, PubMed]; Miscoding and DNA Polymerase Stalling by Methoxyamine-Adducted Abasic Sites., [RefSeq, PubMed]; Temozolomide resistance mechanisms: unveiling the role of translesion DNA polymerase kappa in glioblastoma spheroids in vitro., [RefSeq, PubMed]; This gene encodes a member of the DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication in the presence of DNA lesions. Human cell lines lacking a functional copy of this gene exhibit impaired genome integrity and enhanced susceptibility to oxidative damage. Mutations in this gene that impair enzyme activity may be associated with prostate cancer in human patients. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RBD2;Q5Q9G5;Q5Q9G6;Q5Q9G7;Q5Q9G8;Q86VJ8;Q8IZY0;Q8IZY1;Q8NB30;Q96L01;Q96Q86;Q96Q87;Q9UHC5", "ec_number_list": [ { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.7.7.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.31", "type": "external" }, { "id": "4.2.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.18", "type": "external" }, { "id": "4.2.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.-", "type": "external" }, { "id": "2.4.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.-", "type": "external" }, { "id": "2.4.2.30", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.30", "type": "external" }, { "id": "3.1.26.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.4", "type": "external" }, { "id": "3.4.23.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.50", "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": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "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": "2.3.2.32", "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": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "5.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.1", "type": "external" }, { "id": "6.3.2.n3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.n3", "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": "2.3.1.48", "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": "2.7.7.102", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.102", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0003887 DNA-directed DNA polymerase activity;GO:0008270 zinc ion binding;GO:0003684 damaged DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0090734 site of DNA damage", "go_biological_process": "GO:0071897 DNA biosynthetic process;GO:0006297 nucleotide-excision repair, DNA gap filling;GO:0006281 DNA repair;GO:0006974 DNA damage response;GO:0034644 cellular response to UV", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q9UBT6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59190-1", "uniprot_id": [ { "id": "RAB15_HUMAN", "url": "https://www.uniprot.org/uniprot/P59190", "type": "external" } ], "mass": 24391.0, "length": 212, "protein_name": "Ras-related protein Rab-15", "gene_name": "RAB15", "organism": "Human", "refseq_name": "ras-related protein Rab-15 isoform 2", "refseq_ac": [ { "id": "NP_001295083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295083", "type": "external" } ], "gene_names_uniprotkb": "RAB15", "gene_names_refseq": "RAB15", "protein_names_uniprotkb": "Ras-related protein Rab-15; 3.6.5.2", "protein_names_refseq": "RAB15, member RAS onocogene family; ras-related protein Rab-15 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:376267); (R-HSA-8873719)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "11141079;11237011;11389151;11447212;11675392;16195351;16401880;1648736;17114793;17411337;18532927;19603039;20628086;21491086;22427180;22694141;24023390;25341920;26969162;27552051;31844290;35871249;38473798;39894887;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8836150", "class_list": "", "function": "Ehrlichia chaffeensis Etf-3 Induces Host RAB15 Upregulation for Bacterial Intracellular Growth. Publication Status: Online-Only, [RefSeq, PubMed]; Identified 4 Rab15 isoforms, Rab15CN, Rab15AN1, Rab15AN2 and Rab15AN3 in neuroblastoma cells and demonstrated that Rab15 isoform balance was significantly decreased in spheres of neuroblastoma cells; study suggests Rab15 alternative splicing may serve as a biomarker to discriminate tumor-initiating cells (TICs) from non-TICs in neuroblastoma, [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Rab15 expression correlates with retinoic acid-induced differentiation of neuroblastoma cells, [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB15 may act in concert with RAB3A in regulating aspects of synaptic vesicle membrane flow within the nerve terminal., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "G5EMR7;Q86TX7;Q8IW89", "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:0005525 GTP binding;GO:0046872 metal ion binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0005929 cilium;GO:0048471 perinuclear region of cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:1903307 positive regulation of regulated secretory pathway;GO:0015031 protein transport;GO:0006898 receptor-mediated endocytosis;GO:0006887 exocytosis;GO:0032482 Rab protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "P59190-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95072-1", "uniprot_id": [ { "id": "REC8_HUMAN", "url": "https://www.uniprot.org/uniprot/O95072", "type": "external" } ], "mass": 62614.0, "length": 547, "protein_name": "Meiotic recombination protein REC8 homolog", "gene_name": "REC8", "organism": "Human", "refseq_name": "meiotic recombination protein REC8 homolog", "refseq_ac": [ { "id": "NP_001041670", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001041670", "type": "external" } ], "gene_names_uniprotkb": "REC8; REC8L1", "gene_names_refseq": "HR21spB; REC8L1; REC8; Rec8p", "protein_names_uniprotkb": "Meiotic recombination protein REC8 homolog; Cohesin Rec8p", "protein_names_refseq": "REC8 homolog; cohesin Rec8p; cohesion rec8p; human homolog of rad21, S. pombe; kleisin-alpha; meiotic recombination and sister chromatid cohesion phosphoprotein of the rad21p family; meiotic recombination protein REC8 homolog; meiotic recombination protein REC8-like 1; recombination and sister chromatid cohesion protein homolog", "tax_id": 9606, "disease": "Cornelia de Lange syndrome 4 (Disease Ontology:DOID:0080508)", "pathway": " (hsa:9985); (R-HSA-1221632)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10207075;11237011;11673449;15125634;15235794;15935783;19146767;19664994;20634189;22544926;23481700;24714562;24715725;25469497;26154972;26375851;26728094;27920218;28063628;28228285;28514659;28832583;29242379;29314611;29508533;29557506;29632046;29632711;29786170;30315122;30379171;31217245;31844290;32502341;32983136;33592498;33658710;33677646;33717175;33936100;34561969;34707299;34932366;35051231;35580925;35616161;38105365;39894887;8794855;9008167;9285814", "class_list": "", "function": "Centromeres are dismantled by foundational meiotic proteins Spo11 and Rec8., [RefSeq, PubMed]; Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes., [RefSeq, PubMed]; REC8 inhibits proliferation, migration and invasion of breast cancer cells by targeting CDC20., [RefSeq, PubMed]; REC8 promotes tumor migration, invasion and angiogenesis by targeting the PKA pathway in hepatocellular carcinoma., [RefSeq, PubMed]; REC8 regulates neuroblastoma cell proliferation, migration, invasion, and angiogenesis via STAT3/VEGF signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Required during meiosis for separation of sister chromatids and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome arms by separin during anaphase I allows for homologous chromosome separation in meiosis I and cleavage of REC8 on centromeres during anaphase II allows for sister chromatid separation in meiosis II (By similarity)., [UniProtKB]; The mouse ortholog of REC8L1 is required for proper synapsis of homologous chromosomes during meiosis, [RefSeq, PubMed]; This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced 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": 2, "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": "A8K576;D3DS62;Q658V5;Q6IA92;Q8WUV8;Q9BTF2;Q9NVQ9", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding", "go_cellular_component": "GO:0030893 meiotic cohesin complex;GO:0005634 nucleus;GO:0001673 male germ cell nucleus;GO:0000776 kinetochore;GO:0000800 lateral element", "go_biological_process": "GO:0007059 chromosome segregation;GO:0007283 spermatogenesis;GO:0006302 double-strand break repair;GO:0007131 reciprocal meiotic recombination;GO:0051321 meiotic cell cycle", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "O95072-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H7J1-1", "uniprot_id": [ { "id": "PPR3E_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H7J1", "type": "external" } ], "mass": 30644.0, "length": 279, "protein_name": "Protein phosphatase 1 regulatory subunit 3E", "gene_name": "PPP1R3E", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 3E", "refseq_ac": [ { "id": "NP_001263247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263247", "type": "external" } ], "gene_names_uniprotkb": "PPP1R3E", "gene_names_refseq": "PPP1R3E", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 3E", "protein_names_refseq": "protein phosphatase 1 regulatory subunit 3E; protein phosphatase 1, regulatory (inhibitor) subunit 3E", "tax_id": 9606, "disease": "", "pathway": " (hsa:90673)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;15752363;19773279;23186163;23481700;24275569;33912179;33968037;35051231;35254053", "class_list": "", "function": "Acts as a glycogen-targeting subunit for PP1. PP1 is involved in glycogen metabolism and contributes to the activation of glycogen synthase leading to an increase in glycogen synthesis., [UniProtKB, 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": 3, "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": "D3DS47", "ec_number_list": [], "go_molecular_function": "GO:0008157 protein phosphatase 1 binding;GO:2001069 glycogen binding;GO:0050196 [phosphorylase] phosphatase activity", "go_cellular_component": "GO:0000164 protein phosphatase type 1 complex;GO:0042587 glycogen granule", "go_biological_process": "GO:0005977 glycogen metabolic process;GO:0045725 positive regulation of glycogen biosynthetic process;GO:0005979 regulation of glycogen biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9H7J1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P85299-1", "uniprot_id": [ { "id": "PRR5_HUMAN", "url": "https://www.uniprot.org/uniprot/P85299", "type": "external" } ], "mass": 42753.0, "length": 388, "protein_name": "Proline-rich protein 5", "gene_name": "PRR5", "organism": "Human", "refseq_name": "proline-rich protein 5 isoform 2", "refseq_ac": [ { "id": "NP_001017528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017528", "type": "external" } ], "gene_names_uniprotkb": "PRR5; PP610; PROTOR1", "gene_names_refseq": "FLJ20185k; PP610; PROTOR-1; PROTOR1; PRR5", "protein_names_uniprotkb": "Proline-rich protein 5; Protein observed with Rictor-1; Protor-1", "protein_names_refseq": "Rho GTPase activating protein 8; proline rich 5 (renal); proline-rich protein 5 isoform 2; protein observed with Rictor-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55615); (R-HSA-1257604); (R-HSA-389357); (R-HSA-5218920); (R-HSA-5674400); (R-HSA-6804757); (R-HSA-9856530); (R-HSA-9920951)", "pathway_count": 8, "publication_count": 127, "publication_id_list": "10075701;10102273;10191262;10358075;10376603;10485710;10490848;10608892;10639123;10649434;10722742;10764742;10980695;10980696;11147812;11237011;11274386;11278486;11359766;11504915;11715018;11803464;11804587;11853546;11923872;11968001;11983168;12138205;12150915;12167717;12172553;12176338;12244303;12524439;12660731;12668767;12670391;12724311;12767043;14507994;14617782;15053880;15169778;15304325;1535557;15498874;15527798;15718101;15718470;15788536;15916963;1614537;16163388;16272144;16402859;16474402;16780920;16845383;17060906;17121812;17461779;17599906;17611497;18256540;18439422;18477386;18710921;18925875;18954143;19020623;19644473;19723632;19756449;19805105;19816404;19838211;20338997;20438709;20440266;20489726;20713061;21730132;21730163;21827948;21986495;22025163;24973451;26992070;27108190;27566546;27797339;28510447;28514659;29424687;29557506;30379171;31205027;31844290;31848261;32157095;32296767;32502341;34432728;34499618;36241641;36310878;7637810;7686617;7744773;7784084;7876172;7957050;8319905;8479525;8621607;8645157;8700127;8887688;8954786;9381178;9478990;9620797;9705280;9736715;9812896;9829964;9895304", "class_list": "", "function": "Associated subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals (PubMed:17461779, PubMed:17599906, PubMed:29424687). mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive (PubMed:17461779, PubMed:17599906, PubMed:29424687). mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors (PubMed:17461779, PubMed:17599906, PubMed:29424687). PRR5 plays an important role in regulation of PDGFRB expression and in modulation of platelet-derived growth factor signaling (PubMed:17599906). May act as a tumor suppressor in breast cancer (PubMed:15718101)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; It was demonstrated that immunoprecipitation of Protor-1 or Protor-2 results in the co-immunoprecipitation of other mTORC2 subunits, but not Raptor, a specific component of mTORC1., [RefSeq, PubMed]; MRNA expression analyses revealed PRR5 overexpression in a majority of colorectal tumors but substantial downregulation of PRR5 expression in a subset of breast tumors and reduced expression in two breast cancer cell lines, [RefSeq, PubMed]; The inhibition of Akt and S6K1 phosphorylation by PRR5 knock down correlates with reduction in the expression level of platelet-derived growth factor receptor beta (PDGFRbeta)., [RefSeq, PubMed]; This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": "B1AHF6;B1AHG5;B3KP73;O75983;O95695;Q5BIW2;Q5EAJ8;Q5EAJ9;Q5XKJ6;Q96RW1;Q96RW2;Q9HA49;Q9HC46;Q9NSG0;Q9NVX8;Q9NXL1;Q9UH20", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0031932 TORC2 complex", "go_biological_process": "GO:0030307 positive regulation of cell growth;GO:0043066 negative regulation of apoptotic process;GO:0007010 cytoskeleton organization;GO:0031669 cellular response to nutrient levels;GO:0038203 TORC2 signaling", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "P85299-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VWM3-1", "uniprot_id": [ { "id": "PRA18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VWM3", "type": "external" } ], "mass": 55334.0, "length": 479, "protein_name": "PRAME family member 18", "gene_name": "PRAMEF18", "organism": "Human", "refseq_name": "PRAME family member 18", "refseq_ac": [ { "id": "NP_001093320", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093320", "type": "external" } ], "gene_names_uniprotkb": "PRAMEF18", "gene_names_refseq": "PRAMEF18", "protein_names_uniprotkb": "PRAME family member 18", "protein_names_refseq": "PRAME family member 18; PRAME family member-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:391003)", "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": 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:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045596 negative regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q5VWM3-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50897-1", "uniprot_id": [ { "id": "PPT1_HUMAN", "url": "https://www.uniprot.org/uniprot/P50897", "type": "external" } ], "mass": 34193.0, "length": 306, "protein_name": "Palmitoyl-protein thioesterase 1", "gene_name": "PPT1", "organism": "Human", "refseq_name": "palmitoyl-protein thioesterase 1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_000301", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000301", "type": "external" } ], "gene_names_uniprotkb": "PPT1; CLN1; PPT", "gene_names_refseq": "CLN1; INCL; PPT1; PPT", "protein_names_uniprotkb": "Palmitoyl-protein thioesterase 1; 3.1.2.22; 3.1.2.2; PPT-1; Palmitoyl-protein hydrolase 1", "protein_names_refseq": "ceroid-palmitoyl-palmitoyl-protein thioesterase 1; palmitoyl-protein hydrolase 1; palmitoyl-protein thioesterase 1 isoform 1 precursor", "tax_id": 9606, "disease": "neuronal ceroid lipofuscinosis 1 (Disease Ontology:DOID:0110721); neuronal ceroid lipofuscinosis 3 (Disease Ontology:DOID:0110731); neuronal ceroid lipofuscinosis (Disease Ontology:DOID:14503); retinal disease (Disease Ontology:DOID:5679)", "pathway": " (hsa:5538); (R-HSA-75105)", "pathway_count": 2, "publication_count": 131, "publication_id_list": "37268159;10.1007/s00018-021-03863-1;10.1101/2023.09.13.557529;10229681;10477428;10658183;11237011;11506414;12689621;12754519;12855696;13651131;1371749;15610069;15668256;15907797;16854592;17565660;17898086;17978863;18455495;19159218;19201763;19571038;19941651;20470824;21081667;21990111;22102020;22465940;23328677;23481700;23700546;23932781;24190977;24286864;24714562;25203508;25502872;25645385;25892735;26731412;26992070;27726376;27846572;27892461;27920218;28228285;28467828;28657654;28832583;28871256;28904123;29242379;29314611;29317506;29393594;29557506;29632711;29741879;29769354;30059200;30192525;30315122;30573663;30626607;31154438;31217245;31530632;31611695;31844290;32125861;32157095;32161166;32350084;32357974;32387766;32488085;32938616;32983136;33043033;33091337;33141586;33298915;33392160;33561134;33592498;33876698;33912179;33936100;33968037;34019948;34089345;34171305;34357683;34433824;34509645;34561969;34932366;35051231;35154160;35251023;35254053;35289036;35561310;35580925;36088080;36215666;36241641;37074911;37103469;3805044;38299399;38665916;39531497;40596516;40914422;5810867;627544;7567999;7637805;7732023;7901201;7909540;7916016;8633062;8786130;8816748;9341199;9425237;9664077", "class_list": "", "function": "Computational and structural investigation of Palmitoyl-Protein Thioesterase 1 (PPT1) protein causing Neuronal Ceroid Lipofuscinoses (NCL)., [RefSeq, PubMed]; Has thioesterase activity against fatty acid thioesters with 14 -18 carbons, including palmitoyl-CoA, S-palmitoyl-N-acetylcysteamine, and palmitoylated proteins. In contrast to PPT2, PPT1 can hydrolyze palmitoylated proteins and palmitoylcysteine., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; Human INCL fibroblasts display abnormal mitochondrial and lysosomal networks and heightened susceptibility to ROS-induced cell death. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of PPT1 as a lysosomal core gene with prognostic value in hepatocellular carcinoma., [RefSeq, PubMed]; PPT1 Promotes Growth and Inhibits Ferroptosis of Oral Squamous Cell Carcinoma Cells., [RefSeq, PubMed]; The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in this gene are a cause of infantile neuronal ceroid lipofuscinosis 1 (CLN1, or INCL) and neuronal ceroid lipofuscinosis 4 (CLN4). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 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": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 80, "disease_count": 4, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DY24;Q6FGQ4", "ec_number_list": [ { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.27", "type": "external" }, { "id": "3.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.1", "type": "external" }, { "id": "3.1.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.11", "type": "external" }, { "id": "3.1.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.3", "type": "external" }, { "id": "3.1.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.5", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.2.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.22", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "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": "2.3.1.65", "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": "3.4.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.-.-", "type": "external" }, { "id": "3.4.19.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.19.12", "type": "external" }, { "id": "3.1.1.93", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.93", "type": "external" }, { "id": "3.1.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.14", "type": "external" } ], "go_molecular_function": "GO:0019834 phospholipase A2 inhibitor activity;GO:0008474 palmitoyl-(protein) hydrolase activity;GO:0035727 lysophosphatidic acid binding;GO:0120146 sulfatide binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005829 cytosol", "go_biological_process": "GO:0031579 membrane raft organization;GO:0030149 sphingolipid catabolic process;GO:0006897 endocytosis;GO:0007399 nervous system development;GO:0015031 protein transport", "synthesized_glycan_count": 0, "hit_score": 21.6, "record_id": "P50897-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q496M5-1", "uniprot_id": [ { "id": "PLK5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q496M5", "type": "external" } ], "mass": 36329.0, "length": 336, "protein_name": "Inactive serine/threonine-protein kinase PLK5", "gene_name": "PLK5", "organism": "Human", "refseq_name": "inactive serine/threonine-protein kinase PLK5", "refseq_ac": [ { "id": "NP_001230008", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230008", "type": "external" } ], "gene_names_uniprotkb": "PLK5; FG060302; PLK5P", "gene_names_refseq": "PLK-5; PLK5P; PLK5; SgK384ps", "protein_names_uniprotkb": "Inactive serine/threonine-protein kinase PLK5; PLK-5; Polo-like kinase 5", "protein_names_refseq": "inactive serine/threonine-protein kinase PLK5; polo-like kinase 5, pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:126520)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;21245385;23481700;26908440;29314611;29557506;29786170;29789417;33592498;33691108;34185709;36010968", "class_list": "", "function": "Inactive serine/threonine-protein kinase that plays a role in cell cycle progression and neuronal differentiation., [UniProtKB, PubMed]; The human polo-like kinase 5 gene is significantly silenced in astrocytoma and glioblastoma multiforme by promoter hypermethylation, suggesting a tumor suppressor function for this gene., [RefSeq, PubMed]; We report a three-nucleotide deletion near the C-region of Plk5 that is specifically associated with the lymphatic metastasis in patients with 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B3KNR4;Q1ZYM0", "ec_number_list": [], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005813 centrosome", "go_biological_process": "GO:0010976 positive regulation of neuron projection development;GO:0030154 cell differentiation;GO:0051301 cell division;GO:0006974 DNA damage response;GO:0071363 cellular response to growth factor stimulus", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q496M5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P98171-1", "uniprot_id": [ { "id": "RHG04_HUMAN", "url": "https://www.uniprot.org/uniprot/P98171", "type": "external" } ], "mass": 105026.0, "length": 946, "protein_name": "Rho GTPase-activating protein 4", "gene_name": "ARHGAP4", "organism": "Human", "refseq_name": "rho GTPase-activating protein 4 isoform 1", "refseq_ac": [ { "id": "NP_001158213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158213", "type": "external" } ], "gene_names_uniprotkb": "ARHGAP4; KIAA0131; RGC1; RHOGAP4", "gene_names_refseq": "ARHGAP4; C1; RGC1; RhoGAP4; SrGAP4; p115", "protein_names_uniprotkb": "Rho GTPase-activating protein 4; Rho-GAP hematopoietic protein C1; Rho-type GTPase-activating protein 4; p115", "protein_names_refseq": "Rho-GAP hematopoietic protein C1; rho GTPase-activating protein 4 isoform 1; rho GTPase-activating protein 4; rho-type GTPase-activating protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:393); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 4, "publication_count": 364, "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;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11754100;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;15579468;15601624;15611138;15728722;15850391;15858067;15866170;15897194;16002401;16112081;16116428;16184169;16217026;16243036;16417406;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18669648;18786931;18829452;18835169;18838382;18929667;19269969;19494238;19605563;19635168;19673492;19713215;19934221;20030946;20058876;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21351730;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21850230;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;24366607;24584464;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25418920;25428919;25505266;25704760;25721503;25795300;25862245;25963737;26129894;26154972;26299518;26371245;26529257;26598554;26811146;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27846572;27986909;28028151;28112683;28114311;28196833;28228285;28514659;28584191;28657654;28825699;28832583;28860633;28904123;29089502;29146911;29242379;29351928;29358323;29382922;29393594;29493099;29557506;29786170;30061681;30315122;30410026;30429286;30853411;31105010;31492838;31637018;31844290;31871319;32157095;32203420;32265295;32357974;32387766;32502341;32897882;32938750;32983136;33298915;33392160;33717175;33912179;33981976;34019948;34509645;34524873;34561969;35051231;35254053;35580925;36288877;37443303;38905034;39060771;39302247;39531497;40914422;7479768;7512369;7559638;7673236;7721814;7753201;7835339;7981673;8021274;8107774;8537347;8543060;8570618;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": "A novel type of contiguous gene deletion of ARHGAP4 has been identified in unrelated Japanese kindreds with nephrogenic diabetes insipidus., [RefSeq, PubMed]; ARHGAP4 promotes leukemogenesis in acute myeloid leukemia by inhibiting DRAM1 signaling., [RefSeq, PubMed]; ARHGAP4 variants are associated with X-linked early-onset temporal lobe epilepsy., [RefSeq, PubMed]; ARHGAP4-SEPT2-SEPT9 complex enables both up- and down-modulation of integrin-mediated focal adhesions, cell migration, and invasion., [RefSeq, PubMed]; Candidate Oncogenes, ARHGAP4, NOS3, and OR51B5, for the Development of Scirrhous-type Gastric Cancer., [RefSeq, PubMed]; Inhibitory effect on stress fiber organization. May down-regulate Rho-like GTPase in hematopoietic cells., [UniProtKB]; Rho GTPase-activating protein 4 is upregulated in Kidney Renal Clear Cell Carcinoma and associated with poor prognosis and immune infiltration., [RefSeq, PubMed]; This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 23, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "Q14144;Q86UY3", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005874 microtubule;GO:0030426 growth cone", "go_biological_process": "GO:0010764 negative regulation of fibroblast migration;GO:0007399 nervous system development;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030336 negative regulation of cell migration;GO:0007010 cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 37.5, "record_id": "P98171-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0K7-1", "uniprot_id": [ { "id": "RAI14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0K7", "type": "external" } ], "mass": 110041.0, "length": 980, "protein_name": "Ankycorbin", "gene_name": "RAI14", "organism": "Human", "refseq_name": "ankycorbin isoform a", "refseq_ac": [ { "id": "NP_001138992", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138992", "type": "external" } ], "gene_names_uniprotkb": "RAI14; KIAA1334; NORPEG", "gene_names_refseq": "NORPEG; RAI13; RAI14", "protein_names_uniprotkb": "Ankycorbin; Ankyrin repeat and coiled-coil structure-containing protein; Novel retinal pigment epithelial cell protein; Retinoic acid-induced protein 14", "protein_names_refseq": "ankycorbin isoform a; ankycorbin; ankyrin repeat and coiled-coil structure-containing protein; novel retinal pigment epithelial cell protein; retinoic acid-induced protein 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:26064)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "10.1101/2023.09.13.557529;11042181;11168586;11237011;16110356;16729964;17081983;18452278;18669648;18691976;19651622;19664995;19691289;20068231;21406692;22028470;23186163;23301498;24275569;25576301;25645385;26154972;27600516;27846572;27862975;27920218;28832583;29242379;29557506;29786170;30379171;30429286;30620550;30779550;30833945;31154438;31844290;31848261;32157095;32161166;32387766;32488085;32502341;32897882;32938616;33298915;33592498;33968037;34019948;34087483;34171305;34185709;35051231;35318648;35580925;36010968;36241641;36284347;36934880;37217939;38665916;39160347", "class_list": "", "function": "Phenotypic Heterogeneity Analysis of APC-Mutant Colon Cancer by Proteomics and Phosphoproteomics Identifies RAI14 as a Key Prognostic Determinant in East Asians and Westerners., [RefSeq, PubMed]; Plays a role in actin regulation at the ectoplasmic specialization, a type of cell junction specific to testis. Important for establishment of sperm polarity and normal spermatid adhesion. May also promote integrity of Sertoli cell tight junctions at the blood-testis barrier., [UniProtKB, UniProtKB]; Retinoic acid-induced protein 14 links mechanical forces to Hippo signaling., [RefSeq, PubMed]; Subcellular localization of NORPEG in retinal pigment epithelial (ARPE-19) cells varies with cell density, with predominantly nuclear localization in nonconfluent cells, but a cytoplasmic localization in confluent cultures., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 38, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "E9PED3;Q6V1W9;Q7Z5I4;Q7Z733;Q9P2L2;Q9Y3T5", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005938 cell cortex;GO:0001725 stress fiber;GO:0070161 anchoring junction", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q9P0K7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51606-1", "uniprot_id": [ { "id": "RENBP_HUMAN", "url": "https://www.uniprot.org/uniprot/P51606", "type": "external" } ], "mass": 48831.0, "length": 427, "protein_name": "N-acylglucosamine 2-epimerase", "gene_name": "RENBP", "organism": "Human", "refseq_name": "N-acylglucosamine 2-epimerase", "refseq_ac": [ { "id": "NP_002901", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002901", "type": "external" } ], "gene_names_uniprotkb": "RENBP", "gene_names_refseq": "RBP; RENBP; RNBP", "protein_names_uniprotkb": "N-acylglucosamine 2-epimerase; 5.1.3.8; AGE; GlcNAc 2-epimerase; N-acetyl-D-glucosamine 2-epimerase; Renin-binding protein; RnBP", "protein_names_refseq": "AGE; GlcNAc 2-epimerase; N-acetyl-D-glucosamine 2-epimerase; N-acylglucosamine 2-epimerase", "tax_id": 9606, "disease": "", "pathway": " (hsa:5973); (R-HSA-446210)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10198162;10502668;10824116;11237011;11707391;11726282;12174217;12499362;1460020;17010375;1723410;18675810;20628086;21073341;21310273;22692205;23481700;23969252;24043878;25645385;25892735;28832583;28834231;29242379;29508533;29632711;29786170;30379171;31154438;31848261;33043033;9990133", "class_list": "glycogene", "function": "Catalyzes the interconversion of N-acetylglucosamine to N-acetylmannosamine (PubMed:10502668, PubMed:12499362, PubMed:9990133). 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:9990133)., [UniProtKB, PubMed, PubMed, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Rs2269372 in RENBP was associated with risk of schizophrenia in a Han Chinese population., [RefSeq, PubMed]; Several SNPs and haplotypes of the RnBP gene are associated with either increased or decreased risk of developing essential hypertension., [RefSeq, PubMed]; The gene product inhibits renin activity by forming a dimer with renin, a complex known as high molecular weight renin. The encoded protein contains a leucine zipper domain, which is essential for its dimerization with renin. The gene product can catalyze the interconversion of N-acetylglucosamine to N-acetylmannosamine, indicating that it is a GlcNAc 2-epimerase. Transcript variants utilizing alternative promoters have been described in the literature. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 10, "reported_glycation": 0, "reported_snv": 463, "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": "B4DNZ3;Q96BI6", "ec_number_list": [ { "id": "5.1.3.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.8", "type": "external" } ], "go_molecular_function": "GO:0050121 N-acylglucosamine 2-epimerase activity;GO:0030414 peptidase inhibitor activity;GO:0042802 identical protein binding;GO:0004866 endopeptidase inhibitor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0005975 carbohydrate metabolic process;GO:0008217 regulation of blood pressure;GO:0019262 N-acetylneuraminate catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.5, "record_id": "P51606-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75127-1", "uniprot_id": [ { "id": "PTCD1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75127", "type": "external" } ], "mass": 78856.0, "length": 700, "protein_name": "Pentatricopeptide repeat-containing protein 1, mitochondrial", "gene_name": "PTCD1", "organism": "Human", "refseq_name": "pentatricopeptide repeat-containing protein 1, mitochondrial", "refseq_ac": [ { "id": "NP_056360", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056360", "type": "external" } ], "gene_names_uniprotkb": "PTCD1; KIAA0632", "gene_names_refseq": "PTCD1", "protein_names_uniprotkb": "Pentatricopeptide repeat-containing protein 1, mitochondrial", "protein_names_refseq": "pentatricopeptide repeat-containing protein 1, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:26024)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "11237011;19651879;21857155;24710704;26768311;26992070;28514659;28834231;28904123;29393594;29557506;30948477;31217245;31844290;32157095;32357974;32938616;33298915;33592498;33968037;35051231;36010968", "class_list": "", "function": "ELAC2 and PTCD1 affect the 3' end processing of tRNAs., [RefSeq, PubMed]; Leucine starvation decreased PTCD1 on the protein level., [RefSeq, PubMed]; Mitochondrial protein implicated in negative regulation of leucine tRNA levels, as well as negative regulation of mitochondria-encoded proteins and COX activity. Also affects the 3'-processing of mitochondrial tRNAs., [UniProtKB, PubMed]; Reduced PTCD1 activity disrupts neuronal energy homeostasis and dampens spontaneous neural transmission in Alzheimer's Disease, [RefSeq, PubMed]; This gene encodes a mitochondrial protein that binds leucine tRNAs and other mitochondrial RNAs and plays a role in the regulation of translation. Increased expression of this gene results in decreased mitochondrial leucine tRNA levels. Naturally occurring read-through transcription exists between upstream ATP5J2 (ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2) and this gene. [provided by RefSeq, Aug 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q3ZB78;Q66K60;Q9UDV2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0000049 tRNA binding;GO:0019843 rRNA binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0042780 tRNA 3'-end processing;GO:1900864 mitochondrial RNA modification", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "O75127-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43374-1", "uniprot_id": [ { "id": "RASL2_HUMAN", "url": "https://www.uniprot.org/uniprot/O43374", "type": "external" } ], "mass": 90458.0, "length": 803, "protein_name": "Ras GTPase-activating protein 4", "gene_name": "RASA4", "organism": "Human", "refseq_name": "ras GTPase-activating protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001073346", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073346", "type": "external" } ], "gene_names_uniprotkb": "RASA4; CAPRI; GAPL; KIAA0538", "gene_names_refseq": "CAPRI; GAPL; RASA4", "protein_names_uniprotkb": "Ras GTPase-activating protein 4; Calcium-promoted Ras inactivator; Ras p21 protein activator 4; RasGAP-activating-like protein 2", "protein_names_refseq": "Ca2+-promoted Ras inactivator; Ras GTPase-activating protein 4; calcium-promoted Ras inactivator; ras GTPase-activating protein 4 isoform 2; rasGAP-activating-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10156); (R-HSA-5658442)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "11237011;11448776;11493923;12600938;12646235;12787671;15683364;1570011;16009725;16478641;19573811;2121370;21460216;22751498;22802525;23443682;23661552;24814062;25147919;25880248;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29508533;29557506;29632046;29769354;29786170;30315122;31217245;31844290;34094999;34185709;34675073;34752201;36284347;8563751;9219684;9302992", "class_list": "", "function": "CAPRI (Ca2+-promoted Ras inactivator) a Ca2+-dependent Ras GTPase-activating protein (Ras GAP). Switches off the Ras-MAPK pathway following G protein-coupled receptor stimulated intracellular Ca2+ elevation that recruits CAPRI to the plasma membrane., [RefSeq, PubMed]; CAPRI seems to low-pass filter the Ca2+ signal, converting different intensities of stimulation into different durations of Ras activity., [RefSeq, PubMed]; Ca(2+)-dependent Ras GTPase-activating protein, that switches off the Ras-MAPK pathway following a stimulus that elevates intracellular calcium. Functions as an adaptor for Cdc42 and Rac1 during FcR-mediated phagocytosis., [UniProtKB, PubMed]; Ca2+-dependent monomer and dimer formation switches CAPRI Protein between Ras GTPase-activating protein (GAP) and RapGAP activities, [RefSeq, PubMed]; RASA4 inhibits the HIFalpha signaling pathway to suppress proliferation of cervical cancer cells., [RefSeq, PubMed]; RASA4 isoform 2 promoter methylation correlated with clinical parameters predicting poor prognosis (older age, elevated fetal hemoglobin), with higher risk of relapse after hematopoietic stem cell transplantation, and with PTPN11 mutation., [RefSeq, PubMed]; Ras inhibitor CAPRI enables neutrophil-like cells to chemotax through a higher-concentration range of gradients., [RefSeq, PubMed]; This gene encodes a member of the GAP1 family of GTPase-activating proteins that suppresses the Ras/mitogen-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular Ca(2+) levels result in the translocation of this protein to the plasma membrane, where it activates Ras GTPase activity. Consequently, Ras is converted from the active GTP-bound state to the inactive GDP-bound state and no longer activates downstream pathways that regulate gene expression, cell growth, and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Treponema denticola-Induced RASA4 Upregulation Mediates Cytoskeletal Dysfunction and MMP-2 Activity in Periodontal Fibroblasts. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "O60286;Q14CQ4;Q86UW3;Q96QU0", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0005543 phospholipid binding;GO:0008270 zinc ion binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0046580 negative regulation of Ras protein signal transduction;GO:0035556 intracellular signal transduction;GO:0071277 cellular response to calcium ion;GO:0034260 negative regulation of GTPase activity;GO:1902531 regulation of intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "O43374-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z5L7-1", "uniprot_id": [ { "id": "PODN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z5L7", "type": "external" } ], "mass": 68976.0, "length": 613, "protein_name": "Podocan", "gene_name": "PODN", "organism": "Human", "refseq_name": "podocan precursor", "refseq_ac": [ { "id": "NP_001186009", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186009", "type": "external" } ], "gene_names_uniprotkb": "PODN; PRO332; SLRR5A", "gene_names_refseq": "PCAN; PODN; SLRR5A", "protein_names_uniprotkb": "Podocan", "protein_names_refseq": "podocan precursor; podocan proteoglycan", "tax_id": 9606, "disease": "", "pathway": " (hsa:127435)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;12796502;12975309;15063725;19159218;20551380;24043300;25576301;27608612;27846572;29557506;29741879;30429286;31844290;32157095;32350084;32488085;34185709;35051231;35251023;36010968;36284347;37074911", "class_list": "", "function": "It was apparent that HP upregulates miR-3180-5p, which inhibits the expression of PODN and promotes HBSMC proliferation via the cdk2 signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Negatively regulates cell proliferation and cell migration., [UniProtKB, PubMed]; PODN was characterized in cultured cells., [RefSeq, PubMed]; Podocan appears to be a potent negative regulator of the migration and proliferation of vascular smooth muscle cells., [RefSeq, PubMed]; The protein encoded by this gene is a member of the small leucine-rich repeat protein family and contains an amino terminal CX3CXCX7C cysteine-rich cluster followed by a leucine-rich repeat domain. Studies suggest that this protein could function to inhibit smooth muscle cell proliferation and migration following arterial injury. [provided by RefSeq, Jul 2016]., [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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "reported_interactions": 0, "missing_score": 8836, "biomarker_type": "", "glycan_count": 25, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DKN5;B4E373;Q5VVZ2;Q5VVZ3;Q6PIR3;Q6UXL8;Q8N641", "ec_number_list": [], "go_molecular_function": "GO:0005518 collagen binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0031012 extracellular matrix;GO:0140150 gel phase of interstitial matrix", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0030336 negative regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q7Z5L7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2K5-1", "uniprot_id": [ { "id": "R3HD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2K5", "type": "external" } ], "mass": 106999.0, "length": 976, "protein_name": "R3H domain-containing protein 2", "gene_name": "R3HDM2", "organism": "Human", "refseq_name": "R3H domain-containing protein 2 isoform 3", "refseq_ac": [ { "id": "NP_001317052", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317052", "type": "external" } ], "gene_names_uniprotkb": "R3HDM2; KIAA1002", "gene_names_refseq": "CAG6; PR01365; R3HDM2", "protein_names_uniprotkb": "R3H domain-containing protein 2", "protein_names_refseq": "R3H domain-containing protein 2 isoform 3; R3H domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:22864)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "11237011;18669648;18767875;19413330;19690332;20068231;20884846;23186163;23301498;24715725;25418920;25645385;25880248;25892735;26280087;26992070;28314751;28514659;28832583;28834231;28904123;29242379;29557506;29769354;29786170;30059200;30315122;30429286;30484775;31154438;31492838;31844290;31848261;32157095;32574038;33141586;33298915;33912179;33968037;34019948;34087483;34509645;35051231;35138101;35254053;35318648;35494241;35513511;35561310;36010968;38665916;39531497", "class_list": "", "function": "Meta-analysis and genome-wide association 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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "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": "B7ZL65;Q2M1T9;Q3ZCT5", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005654 nucleoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q9Y2K5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5H8A4-1", "uniprot_id": [ { "id": "PIGG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5H8A4", "type": "external" } ], "mass": 108173.0, "length": 983, "protein_name": "GPI ethanolamine phosphate transferase 2, catalytic subunit", "gene_name": "PIGG", "organism": "Human", "refseq_name": "GPI ethanolamine phosphate transferase 2, catalytic subunit isoform 1", "refseq_ac": [ { "id": "NP_001120650", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120650", "type": "external" } ], "gene_names_uniprotkb": "PIGG; GPI7; PRO4405", "gene_names_refseq": "EMM; GPI7; LAS21; MRT53; NEDHSCA; PIGG; PRO4405; RLGS1930", "protein_names_uniprotkb": "GPI ethanolamine phosphate transferase 2, catalytic subunit; 2.-.-.-; GPI7 homolog; PIG-G; Phosphatidylinositol-glycan biosynthesis class G protein; hGPI7", "protein_names_refseq": "EMM blood group antigen; GPI ethanolamine phosphate transferase 2, catalytic subunit isoform 1; GPI ethanolamine phosphate transferase 2, catalytic subunit; GPI ethanolamine phosphate transferase 2; LAS21 (GPI7) homolog; phosphatidylinositol-glycan biosynthesis class G protein", "tax_id": 9606, "disease": "intellectual disability, autosomal recessive 53 (MONDO:MONDO:0014832)", "pathway": " (hsa:54872); (R-HSA-162710)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10.1101/2023.09.13.557529;10069808;10089216;10944123;11226175;11237011;12975309;14517336;14742432;15623507;15632136;15635094;15720390;16162815;16303743;19851296;20198315;23481700;24715725;25418920;25505266;25576301;25880248;25892735;26154972;26992070;26996948;28581210;28904123;29437277;29557506;30410026;31414351;31844290;32157095;32265295;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33592498;33633747;33763700;33912179;33968037;34113002;34171305;34357683;34509645;34535746;34932366;35051231;35251023;35318648;36010968;3603660;36284347;38665916;8861954;8900170;9463366", "class_list": "glycogene", "function": "Arg658Gln mutation segregates with nonsyndromic intellectual disability in Iranian family., [RefSeq, PubMed]; Based on genetic and functional evidence, we confirm that pathogenic variants in PIGG cause an intellectual disability syndrome, and we find that loss of function of PIGG is associated with Glycosylphosphatidylinositol deficiency, [RefSeq, PubMed]; Catalytic subunit of the ethanolamine phosphate transferase 2 complex that transfers an ethanolamine phosphate (EtNP) from a phosphatidylethanolamine (PE) to the 6-OH position of the second alpha-1,6-linked mannose of a 2-acyl-6-[6-phosphoethanolamine-alpha-D-mannosyl-(1->2)-alpha-D-mannosyl-(1->6)-2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H7) intermediate to generate a 2-acyl-6-[6-phosphoethanolamine-alpha-D-mannosyl-(1->2)-6-phosphoethanolamine-alpha-D-mannosyl-(1->6)-2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H8) and participates in the eleventh step of the glycosylphosphatidylinositol-anchor biosynthesis., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; PIGG variant pathogenicity assessment reveals characteristic features within 19 families., [RefSeq, PubMed]; This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. 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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1371, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DKC7;Q2TAK5;Q6UX31;Q7L5Y4;Q8N866;Q8NCC9;Q96SY9;Q9BVT7;Q9NXG5", "ec_number_list": [ { "id": "2.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.-.-.-", "type": "external" } ], "go_molecular_function": "GO:0051267 CP2 mannose-ethanolamine phosphotransferase activity;GO:0016740 transferase activity;GO:0016780 phosphotransferase activity, for other substituted phosphate groups;GO:0051377 mannose-ethanolamine phosphotransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006506 GPI anchor biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q5H8A4-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBF5-1", "uniprot_id": [ { "id": "PIGX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBF5", "type": "external" } ], "mass": 28788.0, "length": 258, "protein_name": "GPI alpha-1,4-mannosyltransferase I, stabilizing subunit", "gene_name": "PIGX", "organism": "Human", "refseq_name": "GPI alpha-1,4-mannosyltransferase I, stabilizing subunit isoform 1 precursor", "refseq_ac": [ { "id": "NP_001159776", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159776", "type": "external" } ], "gene_names_uniprotkb": "PIGX", "gene_names_refseq": "PIG-X; PIGX", "protein_names_uniprotkb": "GPI alpha-1,4-mannosyltransferase I, stabilizing subunit; PIG-X; Phosphatidylinositol-glycan biosynthesis class X protein", "protein_names_refseq": "GPI alpha-1,4-mannosyltransferase I, stabilizing subunit isoform 1 precursor; GPI alpha-1,4-mannosyltransferase I, stabilizing subunit; GPI-mannosyltransferase subunit; phosphatidylinositol-glycan biosynthesis class X protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:54965); (R-HSA-162710)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10069808;10089216;10944123;11226175;11237011;14517336;14742432;15623507;15632136;15635094;15720390;16162815;23584533;25576301;25813380;25892735;26992070;27862975;27920218;28218747;28228285;28832583;28904123;29242379;29437277;29769354;30833945;31154438;31530632;31844290;32157095;32161166;32350084;32357974;33141586;33298915;33392160;33717175;34171305;35051231;37074911;40307207;8861954;8900170;9463366", "class_list": "glycogene", "function": "Mammalian PIG-X and yeast Pbn1p are the essential components of glycosylphosphatidylinositol-mannosyltransferase I, [RefSeq, PubMed]; Stabilizing subunit of the glycosylphosphatidylinositol-mannosyltransferase I complex which catalyzes the transfer of the first mannose, via an alpha-1,4 bond from a dolichol-phosphate-mannose (Dol-P-Man) to the glucosaminyl acyl phosphatidylinositol (GlcN-(acyl)PI) intermediate to generate alpha-D-Man-(1->4)-alpha-D-GlcN-(1->6)-(1-radyl,2-acyl-sn-glycero-3-phospho)-2-acyl-inositol and participates in the sixth step of the glycosylphosphatidylinositol-anchor biosynthesis. Probably acts by stabilizing the mannosyltransferase PIGM., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a type I transmembrane protein in the endoplasmic reticulum (ER). The protein is an essential component of glycosylphosphatidylinositol-mannosyltransferase I, which transfers the first of the four mannoses in the GPI-anchor precursors during GPI-anchor biosynthesis. Studies in rat indicate that the protein is translated from a non-AUG translation initiation site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 290, "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": "Q9NWZ2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006506 GPI anchor biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q8TBF5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3Y8-1", "uniprot_id": [ { "id": "PPDPF_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3Y8", "type": "external" } ], "mass": 11777.0, "length": 114, "protein_name": "Pancreatic progenitor cell differentiation and proliferation factor", "gene_name": "PPDPF", "organism": "Human", "refseq_name": "pancreatic progenitor cell differentiation and proliferation factor isoform 1", "refseq_ac": [ { "id": "NP_077275", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_077275", "type": "external" } ], "gene_names_uniprotkb": "PPDPF; C20orf149; EXPDF", "gene_names_refseq": "C20orf149; PPDPF; dJ697K14.9; exdpf", "protein_names_uniprotkb": "Pancreatic progenitor cell differentiation and proliferation factor; Exocrine differentiation and proliferation factor", "protein_names_refseq": "exocrine differentiation and proliferation factor; pancreatic progenitor cell differentiation and proliferation factor homolog; pancreatic progenitor cell differentiation and proliferation factor isoform 1", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208)", "pathway": " (hsa:79144)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10.1101/2023.09.13.557529;11237011;23186163;24715725;25576301;28904123;29242379;29485866;29557506;30192525;30429286;30779550;30954221;31530632;31844290;31848261;32157095;32387766;32488085;32983136;33544077;33968037;33981976;34031390;34561969", "class_list": "", "function": "Circ-FOXM1 upregulated the level of pancreatic progenitor cell differentiation and proliferation factor (PPDPF) and metastasis-associated in colon cancer 1 (MACC1) by sponging miR-1304-5p, thereby increasing the proliferation and invasion of non-small cell lung cancer cells., [RefSeq, PubMed]; PPDPF alleviates hepatic steatosis through inhibition of mTOR signaling. Publication Status: Online-Only, [RefSeq, PubMed]; Pancreatic progenitor epigenome maps prioritize type 2 diabetes risk genes with roles in development. Publication Status: Online-Only, [RefSeq, PubMed]; Probable regulator of exocrine pancreas development., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "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": "E1P5J2;Q4VXP1;Q9H3Y7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 3.0, "record_id": "Q9H3Y8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75154-1", "uniprot_id": [ { "id": "RFIP3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75154", "type": "external" } ], "mass": 82440.0, "length": 756, "protein_name": "Rab11 family-interacting protein 3", "gene_name": "RAB11FIP3", "organism": "Human", "refseq_name": "rab11 family-interacting protein 3 isoform 1", "refseq_ac": [ { "id": "NP_055515", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055515", "type": "external" } ], "gene_names_uniprotkb": "RAB11FIP3; ARFO1; KIAA0665", "gene_names_refseq": "CART1; FIP3-Rab11; FIP3; RAB11FIP3; Rab11-FIP3", "protein_names_uniprotkb": "Rab11 family-interacting protein 3; Arfophilin-1; EF hands-containing Rab-interacting protein; Eferin; FIP3-Rab11; FIP3; MU-MB-17.148; Rab11-FIP3", "protein_names_refseq": "EF hands-containing Rab-interacting protein; MU-MB-17.148; RAB11 family interacting protein 3 (class II); arfophilin-1; cytoplasmic adaptor for RAR and TR; eferin; rab11 family-interacting protein 3 isoform 1; rab11 family-interacting protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:9727); (R-HSA-5620916)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "11237011;11481332;11495908;12221131;12470645;12800201;15158446;15158452;15601896;15728366;16038802;16136078;16148947;16155582;16431365;16537653;16782012;17007872;17030804;17229837;17394487;17574030;17628206;17646400;17956946;18511905;18685082;19017632;19153612;19297529;19327867;19454479;20026645;20083215;20308558;21273506;21550243;21565611;21775626;22389062;22401586;22420621;22433857;22983554;23186163;23351793;23481700;23567335;23945166;24296415;25035494;25673879;26258637;27154205;28215104;28228285;28904123;29557506;31154438;31204173;31844290;32157095;32387766;32938616;32983136;33592498;33912179;33968037;34087483;34171305;34509645;35051231;35580925;36010968;37217939;37938771;38211652;9819391", "class_list": "", "function": "Downstream effector molecule for Rab11 GTPase which is involved in endocytic trafficking, cytokinesis and intracellular ciliogenesis by participating in membrane delivery (PubMed:15601896, PubMed:16148947, PubMed:17394487, PubMed:17628206, PubMed:18511905, PubMed:19327867, PubMed:20026645, PubMed:25673879, PubMed:26258637, PubMed:31204173). Recruited by Rab11 to endosomes where it links Rab11 to dynein motor complex (PubMed:20026645). The functional Rab11-RAB11FIP3-dynein complex regulates the movement of peripheral sorting endosomes (SE) along microtubule tracks toward the microtubule organizing center/centrosome, generating the endocytic recycling compartment (ERC) during interphase of cell cycle (PubMed:17394487, PubMed:20026645). Facilitates the interaction between dynein and dynactin and activates dynein processivity (PubMed:25035494). Binding with ASAP1 is needed to regulate the pericentrosomal localization of recycling endosomes (By similarity). The Rab11-RAB11FIP3 complex is also implicated in the transport during telophase of vesicles derived from recycling endosomes to the cleavage furrow via centrosome-anchored microtubules, where the vesicles function to deliver membrane during late cytokinesis and abscission (PubMed:15601896, PubMed:16148947). The recruitment of Rab11-RAB11FIP3-containing endosomes to the cleavage furrow and tethering to the midbody is co-mediated by RAB11FIP3 interaction with ARF6-exocyst and RACGAP1-MKLP1 tethering complexes (PubMed:17628206, PubMed:18511905). Also involved in the Rab11-Rabin8-Rab8 ciliogenesis cascade by facilitating the orderly assembly of a ciliary targeting complex containing Rab11, ASAP1, Rabin8/RAB3IP, RAB11FIP3 and ARF4, which directs preciliary vesicle trafficking to mother centriole and ciliogenesis initiation (PubMed:26258637, PubMed:31204173). Also promotes the activity of Rab11 and ASAP1 in the ARF4-dependent Golgi-to-cilia transport of the sensory receptor rhodopsin (PubMed:25673879). Competes with WDR44 for binding to Rab11, which controls intracellular ciliogenesis pathway (PubMed:31204173). May play a role in breast cancer cell motility by regulating actin cytoskeleton (PubMed:19327867)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; IKZF4/NONO-RAB11FIP3 axis promotes immune evasion in gastric cancer via facilitating PD-L1 endosome recycling., [RefSeq, PubMed]; Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008]., [RefSeq]; RAB11FIP3 combines with Eps15 homology domain 1 to promote the endocytosis recycling of phosphorylation of epithelial growth factor receptor., [RefSeq, PubMed]; Rac1-Rab11-FIP3 regulatory hub coordinates vesicle traffic with actin remodeling and T-cell activation, [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": 9, "reported_mutagensis": 5, "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": "B0QYI8;B0QYT8;B1AHQ0;B4DEI7;B4DZR6;Q4VXV7;Q7Z5E9;Q9H155;Q9H1G0;Q9NUI0", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0030674 protein-macromolecule adaptor activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005813 centrosome;GO:0005829 cytosol;GO:0032588 trans-Golgi network membrane", "go_biological_process": "GO:0070164 negative regulation of adiponectin secretion;GO:1903438 positive regulation of mitotic cytokinetic process;GO:0051301 cell division;GO:0060627 regulation of vesicle-mediated transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "O75154-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BPZ7-1", "uniprot_id": [ { "id": "SIN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BPZ7", "type": "external" } ], "mass": 59123.0, "length": 522, "protein_name": "Target of rapamycin complex 2 subunit MAPKAP1", "gene_name": "MAPKAP1", "organism": "Human", "refseq_name": "target of rapamycin complex 2 subunit MAPKAP1 isoform 1", "refseq_ac": [ { "id": "NP_001006618", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001006618", "type": "external" } ], "gene_names_uniprotkb": "MAPKAP1; MIP1; SIN1", "gene_names_refseq": "JC310; MAPKAP1; MIP1; SIN1b; SIN1g; SIN1", "protein_names_uniprotkb": "Target of rapamycin complex 2 subunit MAPKAP1; Mitogen-activated protein kinase 2-associated protein 1; SAPK-interacting protein 1; Stress-activated map kinase-interacting protein 1; TORC2 subunit MAPKAP1; mSIN1", "protein_names_refseq": "MEKK2-interacting protein 1; SAPK-interacting protein 1; TORC2 subunit MAPKAP1; mSIN1; mitogen-activated protein kinase 2-associated protein 1; mitogen-activated protein kinase associated protein 1; ras inhibitor MGC2745; stress-activated map kinase interacting protein 1; stress-activated protein kinase-interacting 1; target of rapamycin complex 2 subunit MAPKAP1 isoform 1; target of rapamycin complex 2 subunit MAPKAP1", "tax_id": 9606, "disease": "", "pathway": " (hsa:79109); (R-HSA-1257604); (R-HSA-389357); (R-HSA-5218920); (R-HSA-5674400); (R-HSA-6804757); (R-HSA-9856530); (R-HSA-9920951)", "pathway_count": 8, "publication_count": 210, "publication_id_list": "10075701;10102273;10191262;10358075;10376603;10485710;10490848;10608892;10639123;10649434;10722742;10764742;10980695;10980696;11147812;11237011;11274386;11278486;11359766;11504915;11715018;11803464;11804587;11853546;11923872;11968001;11983168;12138205;12150915;12167717;12172553;12176338;12244303;12524439;12660731;12668767;12670391;12724311;12767043;14507994;14617782;15053880;15169778;15304325;1535557;15363842;15467718;15527798;15718470;15788536;15916963;15988011;1614537;16163388;16272144;16402859;16474402;16780920;16845383;16919458;16962653;17043309;17054722;17060906;17081983;17121812;17303383;17611497;18256540;18439422;1849280;18669648;18691976;18710921;18767875;18925875;18954143;19020623;19644473;19723632;19756449;19805105;19816404;19838211;20338997;20438709;20440266;20489726;20713061;21730132;21730163;21806543;21827948;21867682;21986495;22025163;22299025;22505404;23186163;23481700;23684622;23727834;23762398;24161930;24481632;24714562;24715725;24973451;25418920;25576301;25645385;25880248;26154972;26235620;26263164;26293922;26375851;26728094;26811146;26992070;27108190;27566546;27797339;27846572;28143890;28218747;28228285;28264193;28832583;28834231;28904123;28968999;29242379;29437277;29508533;29557506;29567957;29786170;30379171;30429286;30779550;30833945;30837283;31130364;31205027;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32296767;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33158864;33298915;33378666;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34211107;34357683;34380736;34499618;34509645;34932366;35051231;35522713;35561310;35580925;35926713;36010968;36241641;36284347;36310878;37877351;37938771;39173858;7637810;7686617;7744773;7784084;7876172;7957050;8319905;8479525;8621607;8645157;8700127;8887688;8954786;9381178;9478990;9620797;9705280;9736715;9812896;9829964;9895304", "class_list": "", "function": "Component of the mechanistic target of rapamycin complex 2 (mTORC2), which transduces signals from growth factors to pathways involved in proliferation, cytoskeletal organization, lipogenesis and anabolic output (PubMed:15467718, PubMed:16919458, PubMed:16962653, PubMed:17043309, PubMed:21806543, PubMed:28264193, PubMed:28968999, PubMed:30837283, PubMed:35926713). In response to growth factors, mTORC2 phosphorylates and activates AGC protein kinase family members, including AKT (AKT1, AKT2 and AKT3), PKC (PRKCA, PRKCB and PRKCE) and SGK1 (PubMed:16919458, PubMed:16962653, PubMed:21806543, PubMed:28264193, PubMed:28968999, PubMed:30837283, PubMed:35926713). In contrast to mTORC1, mTORC2 is nutrient-insensitive (PubMed:16962653). Within the mTORC2 complex, MAPKAP1/SIN1 acts as a substrate adapter which recognizes and binds AGC protein kinase family members for phosphorylation by MTOR (PubMed:21806543, PubMed:28264193). mTORC2 plays a critical role in AKT1 activation by mediating phosphorylation of different sites depending on the context, such as 'Thr-450', 'Ser-473', 'Ser-477' or 'Thr-479', facilitating the phosphorylation of the activation loop of AKT1 on 'Thr-308' by PDPK1/PDK1 which is a prerequisite for full activation (PubMed:28264193, PubMed:35926713). mTORC2 catalyzes the phosphorylation of SGK1 at 'Ser-422' and of PRKCA on 'Ser-657' (PubMed:30837283, PubMed:35926713). The mTORC2 complex also phosphorylates various proteins involved in insulin signaling, such as FBXW8 and IGF2BP1 (By similarity). mTORC2 acts upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors (PubMed:15467718). mTORC2 promotes the serum-induced formation of stress-fibers or F-actin (PubMed:15467718). MAPKAP1 inhibits MAP3K2 by preventing its dimerization and autophosphorylation (PubMed:15988011). Inhibits HRAS and KRAS independently of mTORC2 complex (PubMed:17303383, PubMed:34380736, PubMed:35522713). Enhances osmotic stress-induced phosphorylation of ATF2 and ATF2-mediated transcription (PubMed:17054722). Involved in ciliogenesis, regulates cilia length through its interaction with CCDC28B independently of mTORC2 complex (PubMed:23727834)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; In contrast to isoform 1, isoform 2 and isoform 6, isoform 4 is not a component of the a mTORC2 complex., [UniProtKB, PubMed]; Overexpression of microRNA-611 inhibits TGF-beta-induced epithelial-mesenchymal transition and migration in lung cancer cells through MAPKAP1., [RefSeq, PubMed]; Results demonstrate that Sin1 transcripts can use alternative polyadenylation signals and describe a number of Sin1 splice variants that potentially encode functionally different isoforms., [RefSeq, PubMed]; This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been described. Alternate polyadenylation sites as well as alternate 3' UTRs have been identified for transcripts of this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Unmasking the tumourigenic role of SIN1/MAPKAP1 in the mTOR complex 2. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 9, "reported_mutagensis": 6, "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": "A8K1Z5;B1AMA4;B7Z309;Q00426;Q5JSV5;Q5JSV6;Q5JSV9;Q658R0;Q699U1;Q699U2;Q699U3;Q699U4;Q6GVJ0;Q6GVJ1;Q6GVJ2", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding;GO:0019901 protein kinase binding;GO:0043325 phosphatidylinositol-3,4-bisphosphate binding", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005741 mitochondrial outer membrane", "go_biological_process": "GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0046580 negative regulation of Ras protein signal transduction;GO:0030307 positive regulation of cell growth;GO:0032869 cellular response to insulin stimulus;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "Q9BPZ7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13519-1", "uniprot_id": [ { "id": "PNOC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13519", "type": "external" } ], "mass": 20295.0, "length": 176, "protein_name": "Prepronociceptin", "gene_name": "PNOC", "organism": "Human", "refseq_name": "prepronociceptin isoform 2", "refseq_ac": [ { "id": "NP_001271173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001271173", "type": "external" } ], "gene_names_uniprotkb": "PNOC; OFQ", "gene_names_refseq": "N/OFQ; NOP; OFQ; PNOC; PPNOC; ppN/OFQ", "protein_names_uniprotkb": "Prepronociceptin; Orphanin FQ; PPNOC", "protein_names_refseq": "nociceptin; nocistatin; orphanin FQ; pre-pro-N/OFQ; prepronociceptin isoform 2; pronociceptin", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); alcohol dependence (Disease Ontology:DOID:0050741); nicotine dependence (Disease Ontology:DOID:0050742); opioid abuse (Disease Ontology:DOID:11206); alcohol use disorder (Disease Ontology:DOID:1574); morphine dependence (Disease Ontology:DOID:2560); cocaine abuse (Disease Ontology:DOID:809); neonatal abstinence syndrome (Disease Ontology:DOID:9828)", "pathway": " (hsa:5368); (R-HSA-375276); (R-HSA-418594)", "pathway_count": 3, "publication_count": 118, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11007482;11237011;11322507;11385580;11457843;11562423;11683476;11773063;12120503;12427552;12540846;12719537;1280419;12950177;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15947423;15951850;1655761;16634148;16923326;1710450;1710578;1719979;1722333;18127230;18434541;1847994;18577758;23446738;23690594;24906252;2534964;26233486;26349406;2649896;26791055;2748346;27496565;27983768;2834384;28832583;31844290;3202875;3366244;33691108;33841428;3525564;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7937899;8015379;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8406495;8440682;8463333;8503909;8615752;8666380;8702752;8710928;8710930;873923;8823230;9168905;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Blocks nociceptin action in pain transmission by inhibiting nociceptin-induced hyperalgesia and allodynia., [UniProtKB, UniProtKB]; Findings suggest that SNPs in opioid receptors and the PNOC genes are associated with NAS severity., [RefSeq, PubMed]; Found differences in Neonatal Abstinence Syndrome outcomes depending on PNOC and COMT SNP genotype., [RefSeq, PubMed]; Has potent analgesic activity., [UniProtKB, UniProtKB]; Ligand of the opioid receptor-like receptor OPRL1. It may act as a transmitter in the brain by modulating nociceptive and locomotor behavior. May be involved in neuronal differentiation and development., [UniProtKB, UniProtKB]; PNOC Expressed by B Cells in Cholangiocarcinoma Was Survival Related and LAIR2 Could Be a T Cell Exhaustion Biomarker in Tumor Microenvironment: Characterization of Immune Microenvironment Combining Single-Cell and Bulk Sequencing Technology. Publication Status: Online-Only, [RefSeq, PubMed]; Study presents evidence suggesting that the PNOC and OPRL1 are dysregulated in suicide completers, thereby potentially contributing to impaired emotional and behavioral control and, ultimately, to the suicidal crisis, [RefSeq, PubMed]; The presence of the PNOC rs732636 A allele was associated with the worse Neonatal abstinence syndrome outcomes in infants. Review article, [RefSeq, PubMed]; This gene encodes a preproprotein that is proteolytically processed to generate multiple protein products. These products include nociceptin, nocistatin, and orphanin FQ2 (OFQ2). Nociceptin, also known as orphanin FQ, is a 17-amino acid neuropeptide that binds to the nociceptin receptor to induce increased pain sensitivity, and may additionally regulate body temperature, learning and memory, and hunger. Another product of the encoded preproprotein, nocistatin, may inhibit the effects of nociceptin. [provided by RefSeq, Jul 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7Z749;Q6FH16", "ec_number_list": [], "go_molecular_function": "GO:0031628 opioid receptor binding;GO:0005184 neuropeptide hormone activity;GO:0001515 opioid peptide activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0043025 neuronal cell body;GO:0043679 axon terminus", "go_biological_process": "GO:0098828 modulation of inhibitory postsynaptic potential;GO:0007165 signal transduction;GO:0007218 neuropeptide signaling pathway;GO:0035094 response to nicotine;GO:0098815 modulation of excitatory postsynaptic potential", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q13519-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRX1-1", "uniprot_id": [ { "id": "PNO1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRX1", "type": "external" } ], "mass": 27924.0, "length": 252, "protein_name": "RNA-binding protein PNO1", "gene_name": "PNO1", "organism": "Human", "refseq_name": "RNA-binding protein PNO1 isoform 1", "refseq_ac": [ { "id": "NP_064528", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064528", "type": "external" } ], "gene_names_uniprotkb": "PNO1", "gene_names_refseq": "KHRBP1; PNO1; RRP20", "protein_names_uniprotkb": "RNA-binding protein PNO1; Partner of NOB1", "protein_names_refseq": "KH-type RNA-binding protein 1; RNA binding protein; RNA-binding protein PNO1 isoform 1; RNA-binding protein PNO1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56902); (R-HSA-6790901); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 129, "publication_id_list": "10606270;10931946;11081632;11237011;11922599;11935223;11978965;12068309;12150911;12417735;15199136;15497447;16037817;16043514;16381836;16738141;16782898;17081983;17189298;17353269;17412707;17636026;18065403;18438418;19007248;19033376;19106111;19332556;19463982;19564402;19691289;19801658;20038530;20047967;20056613;20531386;20798176;20805244;20819938;21036871;21063389;21097556;22072790;22190735;22195017;22916032;23301498;23391857;23439679;23481700;23482395;2388630;24086612;24366607;24424021;24550520;24714562;24715725;25411247;25525153;25576301;25653167;25802875;25851604;25969445;26085946;26196125;26237581;26728094;26992070;27084949;27600516;27846572;27862975;27920218;28510447;28649982;28832583;28855257;28904123;29242379;29493099;30176151;30379171;30429286;30484775;30524438;30862720;31217245;31530632;31800162;31844290;32157095;32357974;32387766;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34516797;34932366;35051231;35132862;35445733;35580925;36240223;36241641;36446769;36625087;37929351;38071381;40596516;40914422;9211966;9482744;9512526", "class_list": "", "function": "A detailed characterization of PNO1 organization and its interaction with NOB1., [RefSeq, PubMed]; High PNO1 expression is associated with colorectal cancer., [RefSeq, PubMed]; Importance of PNO1 for growth and survival of urinary bladder carcinoma: Role in core-regulatory circuitry., [RefSeq, PubMed]; Inhibition of ribosome assembly factor PNO1 by CRISPR/Cas9 technique suppresses lung adenocarcinoma and Notch pathway: Clinical application., [RefSeq, PubMed]; PNO1 inhibits autophagy-mediated ferroptosis by GSH metabolic reprogramming in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; PNO1 promotes the progression of osteosarcoma via TGF-beta and YAP/TAZ pathway. 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 (PubMed:34516797). Positively regulates dimethylation of two adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 18S rRNA (PubMed:25851604)., [UniProtKB, PubMed, PubMed]; Partner of NOB1 homolog transcriptionally activated by E2F transcription factor 1 promotes the malignant progression and inhibits ferroptosis of pancreatic cancer., [RefSeq, PubMed]; Ribosome assembly factor PNO1 is associated with progression and promotes tumorigenesis in triplenegative breast cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 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": "A8K6Q0;Q53G13;Q8WVB8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0032040 small-subunit processome", "go_biological_process": "GO:0042274 ribosomal small subunit biogenesis;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 13.3, "record_id": "Q9NRX1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NFN3-1", "uniprot_id": [ { "id": "RFOX3_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NFN3", "type": "external" } ], "mass": 33873.0, "length": 312, "protein_name": "RNA binding protein fox-1 homolog 3", "gene_name": "RBFOX3", "organism": "Human", "refseq_name": "RNA binding protein fox-1 homolog 3 isoform 1", "refseq_ac": [ { "id": "NP_001076044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001076044", "type": "external" } ], "gene_names_uniprotkb": "RBFOX3", "gene_names_refseq": "FOX-3; FOX3; HRNBP3; NEUN; RBFOX3", "protein_names_uniprotkb": "RNA binding protein fox-1 homolog 3; Fox-1 homolog C; NeuN antigen; Neuronal nuclei antigen", "protein_names_refseq": "RNA binding protein fox-1 homolog 3 isoform 1; RNA binding protein, fox-1 homolog 3; fox-1 homolog C; hexaribonucleotide binding protein 3; neuN antigen; neuronal nuclei antigen", "tax_id": 9606, "disease": "intellectual disability (Disease Ontology:DOID:1059); brain infarction (Disease Ontology:DOID:3454); middle cerebral artery infarction (Disease Ontology:DOID:3525)", "pathway": " (hsa:146713); (R-HSA-9768919)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "11237011;14701734;19713214;20977903;21368041;23371454;23512105;24215932;24291638;24465693;26758079;27472814;29508533;31844290;34039076;34673209;34842137;34974547;35051231;38191906", "class_list": "", "function": "Altered temporal sequence of transcriptional regulators in the generation of human cerebellar granule cells. Publication Status: Online-Only, [RefSeq, PubMed]; Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants., [RefSeq, PubMed]; Genetic variants in splicing factor genes and susceptibility to bladder cancer., [RefSeq, PubMed]; High NeuN levels are associated with supratentorial ependymomas., [RefSeq, PubMed]; In addition, eight genes classified as 'second tier' hits in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2, GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and association in this replication sample., [RefSeq, PubMed]; NeuN (neuronal nuclei) is a neuron-specific nuclear protein identified by anti-NeuN antibody, and widely used as the postmitotic neuron marker. NeuN is identified as the Fox-3 gene product by mass spectrometry, immunoblotting, RNAi, and immunostaining., [RefSeq, PubMed]; NeuN, a DNA-binding neuron-specific protein expressed by Merkel cell carcinoma: analysis of 15 cases., [RefSeq, PubMed]; Paclitaxel-induced inhibition of NSCLC invasion and migration via RBFOX3-mediated circIGF1R biogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Pre-mRNA alternative splicing regulator. Regulates alternative splicing of RBFOX2 to enhance the production of mRNA species that are targeted for nonsense-mediated decay (NMD)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; RNA-binding protein that regulates alternative splicing events., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a member of the RNA-binding FOX protein family which is involved in the regulation of alternative splicing of pre-mRNA. The protein has an N-terminal proline-rich region, an RNA recognition motif (RRM) domain, and a C-terminal alanine-rich region. This gene produces the neuronal nuclei (NeuN) antigen that has been widely used as a marker for post-mitotic neurons. This gene has its highest expression in the central nervous system and plays a prominent role in neural tissue development and regulation of adult brain function. Mutations in this gene have been associated with numerous neurological disorders. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DEG6;B4DF29", "ec_number_list": [], "go_molecular_function": "GO:0003729 mRNA binding;GO:0003723 RNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0043204 perikaryon", "go_biological_process": "GO:0006397 mRNA processing;GO:0007399 nervous system development;GO:0008380 RNA splicing;GO:0000381 regulation of alternative mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "A6NFN3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFP0-1", "uniprot_id": [ { "id": "PXT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFP0", "type": "external" } ], "mass": 16023.0, "length": 134, "protein_name": "Peroxisomal testis-specific protein 1", "gene_name": "PXT1", "organism": "Human", "refseq_name": "peroxisomal testis-specific protein 1", "refseq_ac": [ { "id": "NP_694535", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694535", "type": "external" } ], "gene_names_uniprotkb": "PXT1; STEPP", "gene_names_refseq": "PXT1; STEPP", "protein_names_uniprotkb": "Peroxisomal testis-specific protein 1; Small testis-specific peroxisomal protein", "protein_names_refseq": "peroxisomal testis-specific protein 1; peroxisomal, testis specific 1; small testis-specific peroxisomal protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:222659)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "18160785;20068295;30379171;31844290", "class_list": "", "function": "Data show that CCDC33-dsRED fusion protein co-localized with a known peroxisomal protein, namely PXT1, and showed punctuate intracellular distribution., [RefSeq, PubMed]; Pxt1 gene is so far the first gene coding for a putative peroxisomal protein which is expressed in later steps of spermatogenesis, namely in pachytene spermatocytes, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "J3KR74", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005777 peroxisome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8NFP0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15771-1", "uniprot_id": [ { "id": "RAB30_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15771", "type": "external" } ], "mass": 23058.0, "length": 203, "protein_name": "Ras-related protein Rab-30", "gene_name": "RAB30", "organism": "Human", "refseq_name": "ras-related protein Rab-30", "refseq_ac": [ { "id": "NP_001272988", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001272988", "type": "external" } ], "gene_names_uniprotkb": "RAB30", "gene_names_refseq": "RAB30", "protein_names_uniprotkb": "Ras-related protein Rab-30; 3.6.5.2", "protein_names_refseq": "ras-related protein Rab-30", "tax_id": 9606, "disease": "", "pathway": " (hsa:27314); (R-HSA-6811438); (R-HSA-8873719)", "pathway_count": 3, "publication_count": 95, "publication_id_list": "10189370;10652308;10652516;11141079;11237011;11389151;11447212;11675392;11718716;11748249;12011112;12383348;12429822;15504911;15718469;15728195;15758030;16086013;16401880;1648736;17114793;17274799;17411337;18086915;18256213;18451304;18532927;18691976;19164740;19536132;19603039;19715559;20068231;20163571;20874812;21807881;22013193;22188167;22694141;23091056;23239882;23378023;23462996;23481700;23615442;23839779;23936529;23940353;24023390;24119662;24715725;25341920;25708460;26771875;26969162;26992070;27862975;28467828;28832583;28834231;29242379;29393594;29508533;29557506;29632711;29769354;30290718;32350084;32938616;32983136;33359467;33936100;34357683;34433824;35051231;36581221;37938771;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8636227;8662963;8836150;8863739;8945478;9244307;9476900;9510256;9653114;9707577;9915833", "class_list": "", "function": "A role for Rab30 in retrograde trafficking and maintenance of endosome-TGN organization., [RefSeq, PubMed]; Data indicate taht the parasitophorous vacuole (PV), marked with Rab14, Rab30, or Rab43, colocalize with host-derived sphingolipids in the vacuolar space., [RefSeq, PubMed]; Rab30 is primarily expressed in the Golgi apparatus and is required for the structural integrity of this organelle., [RefSeq, PubMed]; The results demonstrate a novel autophagosomal formation mechanism involving coordinative functions of RAB30 and PI4KB distinct from those utilized in canonical autophagy., [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (PubMed:22188167). RAB30 is required for maintaining the structural integrity of the Golgi apparatus, possibly by mediating interactions with cytoplasmic scaffolding proteins (PubMed:22188167). Facilitates lipid homeostasis during fasting by regulating hepatic protein and lipid trafficking in a PPAR-alpha-dependent manner (By similarity). Promotes autophagosome biogenesis during bacterial infection such as group A Streptococcus infection (PubMed:26771875)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 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": "Q6FGK1;Q6MZH2;Q96CI8", "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:0000421 autophagosome membrane;GO:0031410 cytoplasmic vesicle;GO:0005795 Golgi stack;GO:0005801 cis-Golgi network", "go_biological_process": "GO:0055088 lipid homeostasis;GO:0016192 vesicle-mediated transport;GO:0007030 Golgi organization;GO:0032482 Rab protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 9.6, "record_id": "Q15771-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NY27-1", "uniprot_id": [ { "id": "PP4R2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NY27", "type": "external" } ], "mass": 46898.0, "length": 417, "protein_name": "Serine/threonine-protein phosphatase 4 regulatory subunit 2", "gene_name": "PPP4R2", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 4 regulatory subunit 2 isoform 2", "refseq_ac": [ { "id": "NP_001304954", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304954", "type": "external" } ], "gene_names_uniprotkb": "PPP4R2; SBBI57", "gene_names_refseq": "PP4R2; PPP4R2", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 4 regulatory subunit 2", "protein_names_refseq": "serine/threonine-protein phosphatase 4 regulatory subunit 2 isoform 2; serine/threonine-protein phosphatase 4 regulatory subunit 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:151987); (R-HSA-5693607)", "pathway_count": 2, "publication_count": 123, "publication_id_list": "10769191;10859164;11080452;11139606;11237011;11301010;11376695;11390642;12152085;12545175;12578958;12668731;12791985;14576433;15189136;15190204;15707391;16148040;16153896;16327781;16360315;16530042;16885023;17081983;17287340;17575048;17928296;17965729;18171670;18452278;18614045;18669648;18767875;18805091;18923075;18971343;19357644;19413330;19419957;19651622;19664995;19690332;20068231;20154705;20233725;21052091;21240188;21263215;21325134;21335604;21406692;21659603;21680713;21777809;22021381;22024395;22231403;22635276;22661229;22661230;22792074;22977173;23186163;23301498;23345434;23468639;24715725;25113031;25122754;25418920;25558984;25659039;26154972;26375851;26992070;27600516;27846572;27869121;28510447;28514659;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30429286;30484775;31154438;31373491;31844290;31848261;31998317;32157095;32387766;32488085;32897882;32938616;32983136;33392160;33592498;33717175;33912179;33968037;34561969;34932366;35051231;35580925;36010968;36172813;36215666;36241641;36284347;37938771;39894887;40307207;40914422;9705271", "class_list": "", "function": "A three-protein PP4 phosphatase complex in mammalian cells, containing PP4C, PP4R2, and PP4R3beta, specifically dephosphorylates ATR-mediated gamma-H2AX generated during DNA replication., [RefSeq, PubMed]; Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers. Its interaction with the SMN complex leads to enhance the temporal localization of snRNPs, suggesting a role of PPP4C in maturation of spliceosomal snRNPs. The PPP4C-PPP4R2-PPP4R3A PP4 complex specifically dephosphorylates H2AX phosphorylated on 'Ser-140' (gamma-H2AX) generated during DNA replication and required for DNA double strand break repair. Mediates RPA2 dephosphorylation by recruiting PPP4C to RPA2 in a DNA damage-dependent manner. RPA2 dephosphorylation is required for the efficient RPA2-mediated recruitment of RAD51 to chromatin following double strand breaks, an essential step for DNA repair., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a regulatory subunit of the serine/threonine-protein phosphatase 4 complex. In addition to being required for efficient DNA double strand break repair, this complex plays a role in organization of microtubules at centrosomes and processing of spliceosomal snRNPs. Several transcript variants encoding different isoforms 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": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 14, "reported_mutagensis": 3, "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": "A8K1I6;Q2TAJ9;Q498B8;Q8WXX6", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0019888 protein phosphatase regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0000785 chromatin", "go_biological_process": "GO:0036211 protein modification process;GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0010569 regulation of double-strand break repair via homologous recombination;GO:2000779 regulation of double-strand break repair", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "Q9NY27-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75915-1", "uniprot_id": [ { "id": "PRAF3_HUMAN", "url": "https://www.uniprot.org/uniprot/O75915", "type": "external" } ], "mass": 21615.0, "length": 188, "protein_name": "PRA1 family protein 3", "gene_name": "ARL6IP5", "organism": "Human", "refseq_name": "PRA1 family protein 3", "refseq_ac": [ { "id": "NP_006398", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006398", "type": "external" } ], "gene_names_uniprotkb": "ARL6IP5; DERP11; HSPC127; JWA; PRA2; PRAF3", "gene_names_refseq": "ARL6IP5; DERP11; GTRAP3-18; HSPC127; JWA; PRAF3; Yip6b; addicsin; hp22; jmx", "protein_names_uniprotkb": "PRA1 family protein 3; ADP-ribosylation factor-like protein 6-interacting protein 5; ARL-6-interacting protein 5; Aip-5; Cytoskeleton-related vitamin A-responsive protein; Dermal papilla-derived protein 11; GTRAP3-18; Glutamate transporter EAAC1-interacting protein; JM5; Prenylated Rab acceptor protein 2; Protein JWa; Putative MAPK-activating protein PM27", "protein_names_refseq": "ADP ribosylation factor like GTPase 6 interacting protein 5; ADP-ribosylation factor GTPase 6 interacting protein 5; ADP-ribosylation factor-like 6 interacting protein 5; ADP-ribosylation factor-like protein 6-interacting protein 5; ADP-ribosylation-like factor 6 interacting protein 5; ARL-6-interacting protein 5; JM5; PRA1 domain family 3; PRA1 family protein 3; aip-5; cytoskeleton-related vitamin A-responsive protein; dermal papilla derived protein 11; glutamate transporter EAAC1-interacting protein; glutamate transporter EEAC1-associated protein; prenylated Rab acceptor protein 2; protein JWa; putative MAPK activating protein PM27", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:10550); (R-HSA-210500)", "pathway_count": 2, "publication_count": 89, "publication_id_list": "10440375;10620514;11001057;11015561;11237011;11242046;11756489;12119102;12438930;12519779;12562531;12665801;12761501;14761432;15757671;15935055;16116111;16481131;16616430;17478680;17891149;17989281;18215623;22223895;22544926;23481700;24578174;24715725;25418920;25576301;25892735;26154972;26375851;26992070;27452731;27600516;27846572;28063628;28228285;28446606;28832583;28855257;28904123;29242379;29393594;29557506;29632046;29632711;29658570;29769354;29786170;30779550;31092671;31154438;31611695;31726816;31844290;31848261;31937595;31998317;32119511;3214421;32157095;32265295;32387766;32488085;32897882;32938616;32983136;33043033;33141586;33392160;33537174;33592498;33968037;33981976;34019948;34171305;34211107;34357683;34405274;34509645;34561969;34725712;35051231;35293383;37217939;37938771;9701566", "class_list": "", "function": "ARL6IP5 reduces cisplatin-resistance by suppressing DNA repair and promoting apoptosis pathways in ovarian carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Correlation between JWA gene polymorphism and acute lymphoblastic leukemia., [RefSeq, PubMed]; Expression of this gene is affected by vitamin A. The encoded protein of this gene may be associated with the cytoskeleton. A similar protein in rats may play a role in the regulation of cell differentiation. The rat protein binds and inhibits the cell membrane glutamate transporter EAAC1. The expression of the rat gene is upregulated by retinoic acid, which results in a specific reduction in EAAC1-mediated glutamate transport. [provided by RefSeq, Jul 2008]., [RefSeq]; Highly conserved protein and genomic organization amongst vertebrates, [RefSeq, PubMed]; Protein expression is upregulated by methyl-beta-cyclodextrin and not by retinoic acid, [RefSeq, PubMed]; Regulates intracellular concentrations of taurine and glutamate. Negatively modulates SLC1A1/EAAC1 glutamate transport activity by decreasing its affinity for glutamate in a PKC activity-dependent manner. Plays a role in the retention of SLC1A1/EAAC1 in the endoplasmic reticulum., [UniProtKB, UniProtKB, UniProtKB]; These data demonstrated that JWA suppressed the migration/invasion of breast carcinoma cells by downregulating the expression of CXCR4, and suggested that JWA may harbor prognostic and therapeutic potential in patients with breast cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": "B2R6V5;Q53ES3;Q5KU08", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0099523 presynaptic cytosol", "go_biological_process": "GO:0002037 negative regulation of L-glutamate import across plasma membrane;GO:0015031 protein transport;GO:0043065 positive regulation of apoptotic process;GO:0010917 negative regulation of mitochondrial membrane potential;GO:0051051 negative regulation of transport", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "O75915-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRC7-1", "uniprot_id": [ { "id": "PLCD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRC7", "type": "external" } ], "mass": 87585.0, "length": 762, "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4", "gene_name": "PLCD4", "organism": "Human", "refseq_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4", "refseq_ac": [ { "id": "NP_116115", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116115", "type": "external" } ], "gene_names_uniprotkb": "PLCD4", "gene_names_refseq": "PLCD4", "protein_names_uniprotkb": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4; 3.1.4.11; PLC-delta-4; Phosphoinositide phospholipase C-delta-4; Phospholipase C-delta-4; hPLCD4", "protein_names_refseq": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4; PLC delta4; phosphoinositide phospholipase C-delta-4", "tax_id": 9606, "disease": "", "pathway": " (hsa:84812); (R-HSA-1855204)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10593988;10702683;10866302;11022047;11022048;11042108;11118617;11237011;11909533;12223481;12747803;1333955;15037625;15140260;15316017;15474001;15505048;15579586;15702972;15790568;16107206;1644792;1718960;19179337;2550068;2841328;28463110;29393594;29557506;29859928;30194280;30450849;32938616;33968037;34171305;35051231;7721860;7761412;7890667;8407970;8454637;8530101;8662638;8723348;8769125;9360711;9430698;9593664", "class_list": "", "function": "Acts as a non-receptor guanine nucleotide exchange factor which binds to and activates guanine nucleotide-binding protein (G protein) alpha subunit GNAI3., [UniProtKB, PubMed]; Here, the authors report that the zebrafish/human phosphatidylinositol transfer protein Sec14l3/SEC14L2 act as GTPase proteins to transduce Wnt signals from Frizzled to phospholipase C (PLC). Publication Status: Online-Only, [RefSeq, PubMed]; Hydrolyzes the phosphatidylinositol 4,5-bisphosphate (PIP2) to generate 2 second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3). DAG mediates the activation of protein kinase C (PKC), while IP3 releases Ca(2+) from intracellular stores. Required for acrosome reaction in sperm during fertilization, probably by acting as an important enzyme for intracellular Ca(2+) mobilization in the zona pellucida-induced acrosome reaction. May play a role in cell growth. Modulates the liver regeneration in cooperation with nuclear PKC. Overexpression up-regulates the Erk signaling pathway and proliferation., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; PLCD4 functions as a nonreceptor activator of G-proteins., [RefSeq, PubMed]; PLCE1 activated NF-kappaB [nuclear factor kappa B ] signaling by up-regulating PKCalpha [protein kinase C alpha ], which could promote invasion and migration of esophageal cancer cells., [RefSeq, PubMed]; PLCdelta4 knockdown demonstrated that it is essential for hASC proliferation, without inducing cell death. An increase of cells in G1, and a reduction of cells on interphase and G2/M in knockdown cells were seen., [RefSeq, PubMed]; This gene encodes a member of the delta class of phospholipase C enzymes. Phospholipase C enzymes play a critical role in many cellular processes by hydrolyzing phosphatidylinositol 4,5-bisphosphate into two intracellular second messengers, inositol 1,4,5-trisphosphate and diacylglycerol. Expression of this gene may be a marker for cancer. [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": 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": "Q53FS8", "ec_number_list": [ { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.16.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.16.1", "type": "external" } ], "go_molecular_function": "GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity;GO:0005509 calcium ion binding;GO:0001965 G-protein alpha-subunit binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0120548 phosphatidylinositol phospholipase C activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0016042 lipid catabolic process;GO:0007264 small GTPase-mediated signal transduction;GO:0006629 lipid metabolic process;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9BRC7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAB8-1", "uniprot_id": [ { "id": "PPCS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAB8", "type": "external" } ], "mass": 34005.0, "length": 311, "protein_name": "Phosphopantothenate--cysteine ligase", "gene_name": "PPCS", "organism": "Human", "refseq_name": "phosphopantothenate--cysteine ligase isoform b", "refseq_ac": [ { "id": "NP_001070915", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070915", "type": "external" } ], "gene_names_uniprotkb": "PPCS; COAB", "gene_names_refseq": "CMD2C; PPCS", "protein_names_uniprotkb": "Phosphopantothenate--cysteine ligase; 6.3.2.51; PPC synthetase; Phosphopantothenoylcysteine synthetase", "protein_names_refseq": "PPC synthetase; phosphopantothenate--cysteine ligase isoform b; phosphopantothenate--cysteine ligase", "tax_id": 9606, "disease": "dilated cardiomyopathy 2C (Disease Ontology:DOID:0081159); neurodegenerative disease (Disease Ontology:DOID:1289); dilated cardiomyopathy (Disease Ontology:DOID:12930); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:79717); (R-HSA-196783)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "11237011;11479594;11923312;11994049;12095677;12554685;12906824;14514684;14523052;15105273;15581364;15893380;16040613;16272150;17242360;17322306;19683078;20068231;21993680;22223895;23481700;25505266;25645385;26154972;26375851;26992070;27846572;27893789;27920218;28218747;28228285;28510447;28514659;28832583;28904123;29242379;29437277;29508533;29557506;29632711;29754768;29789417;30315122;30429286;30779550;30833945;31217245;31844290;31848261;32157095;32350084;32387766;32488085;32938616;32983136;33141586;33298915;33392160;33912179;33936100;33968037;34087483;34171305;34509645;34561969;35051231;35154160;35580925;36241641;36983025;40914422", "class_list": "", "function": "Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCS (EC 6.3.2.5), one of the last enzymes in this pathway, converts phosphopantothenate to phosphopantothenoylcysteine (Daugherty et al., 2002 [PubMed 11923312]).[supplied by OMIM, Mar 2008]., [RefSeq]; Catalyzes the second step in the biosynthesis of coenzyme A from vitamin B5, where cysteine is conjugated to 4'-phosphopantothenate to form 4-phosphopantothenoylcysteine (PubMed:11923312, PubMed:12906824, PubMed:29754768). Has a preference for ATP over CTP as a cosubstrate (PubMed:11923312)., [UniProtKB, PubMed, PubMed, PubMed]; Exome sequencing in five individuals from two unrelated families presenting with dilated cardiomyopathy revealed biallelic mutations in PPCS., [RefSeq, PubMed]; Oxygen transfer studies found that 18O from [carboxyl-18O] phosphopantothenate is incorporated into AMP or CMP produced during PPCS catalysis, consistent with the formation of a phosphopantothenoyl cytidylate or phosphopantothenoyl adenylate intermediate, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3KQT2;Q5VVM0", "ec_number_list": [ { "id": "6.3.2.51", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.2.51", "type": "external" } ], "go_molecular_function": "GO:0004632 phosphopantothenate--cysteine ligase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0003824 catalytic activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006085 acetyl-CoA biosynthetic process;GO:0015937 coenzyme A biosynthetic process;GO:0003015 heart process", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9HAB8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZV29-1", "uniprot_id": [ { "id": "PLPL7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZV29", "type": "external" } ], "mass": 145705.0, "length": 1317, "protein_name": "Patatin-like phospholipase domain-containing protein 7", "gene_name": "PNPLA7", "organism": "Human", "refseq_name": "patatin-like phospholipase domain-containing protein 7 isoform a", "refseq_ac": [ { "id": "NP_001092007", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092007", "type": "external" } ], "gene_names_uniprotkb": "PNPLA7; C9orf111", "gene_names_refseq": "C9orf111; NTE-R1; NTEL1; PNPLA7", "protein_names_uniprotkb": "Patatin-like phospholipase domain-containing protein 7; 3.1.1.-; 3.1.1.5", "protein_names_refseq": "patatin like phospholipase domain containing 7; patatin-like phospholipase domain-containing protein 7 isoform a; patatin-like phospholipase domain-containing protein 7", "tax_id": 9606, "disease": "cerebellar ataxia (Disease Ontology:DOID:0050753); neurodegenerative disease (Disease Ontology:DOID:1289); blindness (Disease Ontology:DOID:1432); hereditary spastic paraplegia (Disease Ontology:DOID:2476)", "pathway": " (hsa:375775); (R-HSA-6814848)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10760272;11237011;12514188;12576545;15044461;15788404;16472945;16799181;17015841;18086666;18667693;24275569;25528375;25867316;27600516;27862975;28228285;28887301;29242379;29314611;29393594;29557506;30429286;31154438;31844290;32103509;32357974;32387766;32502341;32938616;33298915;34087483;34357683;34509645;35051231;36010968;36499308;36979406;37217939;37861523", "class_list": "", "function": "Human patatin-like phospholipases, such as PNPLA7, have been implicated in regulation of adipocyte differentiation and have been induced by metabolic stimuli (Wilson et al., 2006 [PubMed 16799181]).[supplied by OMIM, Jun 2008]., [RefSeq]; Lysophospholipase which preferentially deacylates unsaturated lysophosphatidylcholine (C18:1), generating glycerophosphocholine. Also can deacylate, to a lesser extent, lysophosphatidylethanolamine (C18:1), lysophosphatidyl-L-serine (C18:1) and lysophosphatidic acid (C16:0)., [UniProtKB, UniProtKB]; PNPLA7 acts as an endoplasmic reticulum -anchored lysophosphatidylcholine hydrolase that is composed of specific functional domains mediating catalytic activity, subcellular positioning, and interactions with cellular organelles., [RefSeq, PubMed]; The Lysophospholipase PNPLA7 Controls Hepatic Choline and Methionine Metabolism. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The Patatin-Like Phospholipase Domain Containing Protein 7 Facilitates VLDL Secretion by Modulating ApoE Stability., [RefSeq, PubMed]; The Patatin-Like Phospholipase Domain Containing Protein 7 Regulates Macrophage Classical Activation through SIRT1/NF-kappaB and p38 MAPK Pathways. Publication Status: Online-Only, [RefSeq, PubMed]; The phospholipase PNPLA7 functions as a positive indicator in human colorectal and gastric cancers., [RefSeq, PubMed]; We explored Single Nucleotide Polymorphism in the PNPLA7 gene on chromosome 9 and investigated their correlation with the susceptibility to menstrual disorder. 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": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "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": "B5MDD3;Q5T364;Q658X0;Q658Y3;Q6ZTS1;Q86YU8;Q8TAY5;Q96N75;Q9H7N5", "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": "3.1.2.22", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.22", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "3.1.1.111", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.111", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.1", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.23", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" } ], "go_molecular_function": "GO:0004622 phosphatidylcholine lysophospholipase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005811 lipid droplet;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0034638 phosphatidylcholine catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q6ZV29-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWB4-1", "uniprot_id": [ { "id": "PRS55_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWB4", "type": "external" } ], "mass": 38856.0, "length": 352, "protein_name": "Serine protease 55", "gene_name": "PRSS55", "organism": "Human", "refseq_name": "serine protease 55 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001183949", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001183949", "type": "external" } ], "gene_names_uniprotkb": "PRSS55; PRO34284; TSP1", "gene_names_refseq": "CT153; PRSS55; T-SP1; TSP1; UNQ9391", "protein_names_uniprotkb": "Serine protease 55; 3.4.21.-; T-SP1; Testis serine protease 1", "protein_names_refseq": "probable serine protease UNQ9391/PRO34284; protease, serine 55; serine protease 55 isoform 2 precursor; testis serine protease 1; tryptophan/serine protease", "tax_id": 9606, "disease": "", "pathway": " (hsa:203074)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;12975309;18844450;23436708;29557506;32387766;34509645;35051231;37217939;38740147", "class_list": "", "function": "Probable serine protease, which plays a crucial role in the fertility of male mice including sperm migration and sperm-egg interaction., [UniProtKB, UniProtKB]; T-SP1 protein was detectable in prostate cancer and in some ovarian cancer tissues, indicating tumor-related synthesis of T-SP1, [RefSeq, PubMed]; This gene encodes a member of a group of membrane-anchored chymotrypsin (S1)-like serine proteases. The enocoded protein is primarily expressed in the Leydig and Sertoli cells of the testis and may be involved in male fertility. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "E5RJX5", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0001669 acrosomal vesicle;GO:0098552 side of membrane", "go_biological_process": "GO:0007339 binding of sperm to zona pellucida;GO:0016485 protein processing;GO:0030317 flagellated sperm motility;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q6UWB4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N819-1", "uniprot_id": [ { "id": "PPM1N_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N819", "type": "external" } ], "mass": 46170.0, "length": 430, "protein_name": "Probable protein phosphatase 1N", "gene_name": "PPM1N", "organism": "Human", "refseq_name": "probable protein phosphatase 1N", "refseq_ac": [ { "id": "NP_001073870", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073870", "type": "external" } ], "gene_names_uniprotkb": "PPM1N", "gene_names_refseq": "PPM1N", "protein_names_uniprotkb": "Probable protein phosphatase 1N; 3.1.3.16", "protein_names_refseq": "probable protein phosphatase 1N", "tax_id": 9606, "disease": "", "pathway": " (hsa:147699)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;30524438;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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q6P662", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0030145 manganese ion binding;GO:0004722 protein serine/threonine phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0090263 positive regulation of canonical Wnt signaling pathway;GO:0043122 regulation of canonical NF-kappaB signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8N819-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TF05-1", "uniprot_id": [ { "id": "PP4R1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TF05", "type": "external" } ], "mass": 107004.0, "length": 950, "protein_name": "Serine/threonine-protein phosphatase 4 regulatory subunit 1", "gene_name": "PPP4R1", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase 4 regulatory subunit 1 isoform a", "refseq_ac": [ { "id": "NP_001035847", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035847", "type": "external" } ], "gene_names_uniprotkb": "PPP4R1; MEG1; PP4R1", "gene_names_refseq": "MEG1; PP4(Rmeg); PP4R1; PPP4R1", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase 4 regulatory subunit 1", "protein_names_refseq": "serine/threonine phosphatase 4; serine/threonine-protein phosphatase 4 regulatory subunit 1 isoform a; serine/threonine-protein phosphatase 4 regulatory subunit 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9989)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "10026142;11237011;11729228;15805470;18614045;18767875;19651622;20068231;22424782;23186163;23301498;23481700;24715725;25134449;25576301;25892735;26154972;26992070;27397612;27862975;27920218;28228285;28445980;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29769354;29786170;30315122;30429286;30524438;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37739270;37938771;38301910;38424148", "class_list": "", "function": "(Microbial infection) Participates in merkel polyomavirus-mediated inhibition of NF-kappa-B by bridging viral small tumor antigen with NEMO., [UniProtKB, PubMed]; AMBRA1 promotes intestinal inflammation by antagonizing PP4R1/PP4c mediated IKK dephosphorylation in an autophagy-independent manner., [RefSeq, PubMed]; PP4R1 accelerates the malignant progression of NSCLC via up-regulating HSPA6 expression and HSPA6-mediated ER stress., [RefSeq, PubMed]; PP4R1 promotes glycolysis and gallbladder cancer progression through facilitating ERK1/2 mediated PKM2 nuclear translocation., [RefSeq, PubMed]; Regulatory subunit of serine/threonine-protein phosphatase 4. May play a role in regulation of cell division in renal glomeruli. The PPP4C-PPP4R1 PP4 complex may play a role in dephosphorylation and regulation of HDAC3. Plays a role in the inhibition of TNF-induced NF-kappa-B activation by regulating the dephosphorylation of TRAF2., [UniProtKB, PubMed]; This gene encodes one of several alternate regulatory subunits of serine/threonine protein phosphatase 4 (PP4). The protein features multiple HEAT repeats. This protein forms a complex with PP4RC. This complex may have a distinct role from other PP4 complexes, including regulation of HDAC3 (Zhang et al., PMID: 15805470). There is also a transcribed pseudogene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q99774;Q9UNQ7", "ec_number_list": [], "go_molecular_function": "GO:0019888 protein phosphatase regulator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0030289 protein phosphatase 4 complex", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q8TF05-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96N28-1", "uniprot_id": [ { "id": "PLD3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96N28", "type": "external" } ], "mass": 19247.0, "length": 172, "protein_name": "PRELI domain containing protein 3A", "gene_name": "PRELID3A", "organism": "Human", "refseq_name": "PRELI domain containing protein 3A isoform 1", "refseq_ac": [ { "id": "NP_001135877", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135877", "type": "external" } ], "gene_names_uniprotkb": "PRELID3A; C18orf43; SLMO1", "gene_names_refseq": "C18orf43; HFL-EDDG1; PRELID3A; SLMO1", "protein_names_uniprotkb": "PRELI domain containing protein 3A; Protein slowmo homolog 1", "protein_names_refseq": "PRELI domain containing protein 3A isoform 1; PRELI domain containing protein 3A; erythroid differentiation and denucleation factor 1; protein slowmo homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10650); (R-HSA-6803204)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "10807576;11030628;11237011;11511362;11684014;12402042;12606722;14729977;15126337;15273740;15607964;15735003;17349958;18617898;19377469;20877624;22334068;22766503;23365256;23684607;23931759;25080938;25576301;26071602;26992070;27600516;28218747;30410026;30484775;31844290;33298915;34171305;7834749", "class_list": "", "function": "Crystal structures of free TRIAP1 and TRIAP1-SLMO1 complex reveal how the PRELI domain is chaperoned during import into the intermembrane mitochondrial space; structural resemblance of PRELI-like domain of SLMO1 with that of mammalian phoshatidylinositol transfer proteins suggest they share similar lipid transfer mechanisms, [RefSeq, PubMed]; In vitro, the TRIAP1:PRELID3A complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space. Phosphatidic acid import is required for cardiolipin (CL) synthesis in the mitochondrial inner membrane., [UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0YJ10;B4E0C9;D3DUJ1;Q6AHX2", "ec_number_list": [], "go_molecular_function": "GO:1990050 phosphatidic acid transfer activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005758 mitochondrial intermembrane space", "go_biological_process": "GO:0015914 phospholipid transport", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q96N28-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NP80-1", "uniprot_id": [ { "id": "PLPL8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NP80", "type": "external" } ], "mass": 88477.0, "length": 782, "protein_name": "Calcium-independent phospholipase A2-gamma", "gene_name": "PNPLA8", "organism": "Human", "refseq_name": "calcium-independent phospholipase A2-gamma isoform 1", "refseq_ac": [ { "id": "NP_001242936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001242936", "type": "external" } ], "gene_names_uniprotkb": "PNPLA8; BM-043; IPLA22; IPLA2G", "gene_names_refseq": "IPLA2-2; IPLA2G; MMLA; PNPLA-gamma; PNPLA8; iPLA2gamma", "protein_names_uniprotkb": "Calcium-independent phospholipase A2-gamma; 3.1.1.-; 3.1.1.5; Intracellular membrane-associated calcium-independent phospholipase A2 gamma; PNPLA-gamma; Patatin-like phospholipase domain-containing protein 8; iPLA2-2; iPLA2-gamma", "protein_names_refseq": "calcium-independent phospholipase A2-gamma isoform 1; intracellular membrane-associated calcium-independent phospholipase A2 gamma; patatin like phospholipase domain containing 8", "tax_id": 9606, "disease": "mitochondrial myopathy-lactic acidosis-deafness syndrome (MONDO:MONDO:0016825)", "pathway": " (hsa:50640); (R-HSA-1482788); (R-HSA-1482839)", "pathway_count": 3, "publication_count": 108, "publication_id_list": "10085124;10092647;10336645;10358058;10455175;10681567;10744668;10833412;11031251;11112443;11237011;11830583;12150957;12161451;12359733;12522102;14709560;15629460;15695510;15863501;15908428;15944408;1618844;16243729;16617059;16704971;16818490;16864775;17182612;17213206;18171998;18195019;18287005;18458083;18614531;18772128;18781350;19019078;1904318;19351971;19501189;20705608;21515882;22605381;22825852;23481700;25418920;25512002;25576301;25645385;26154972;26375851;26463208;26503625;26811146;26992070;27600516;27846572;27920218;28442572;28832583;28834231;28904123;29242379;2925608;2925633;29393594;29557506;29632046;29632711;29681094;29769354;30429286;31492838;31844290;31848261;32157095;32161117;32265295;32357974;32387766;32488085;32502341;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33912179;33968037;34171305;34932366;35051231;35580925;36010968;36215666;37938771;38017485;39082157;40596516;7060561;8083230;8300559;9188469;9417066;9705332", "class_list": "", "function": "12-LOX catalyzes the oxidation of 2-arachidonoyl-lysolipids in platelets generating eicosanoid-lysolipids that are attenuated by iPLA2gamma knockout., [RefSeq, PubMed]; Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia., [RefSeq, PubMed]; Calcium-independent and membrane-bound phospholipase, that catalyzes the esterolytic cleavage of fatty acids from glycerophospholipids to yield free fatty acids and lysophospholipids, hence regulating membrane physical properties and the release of lipid second messengers and growth factors (PubMed:10744668, PubMed:10833412, PubMed:15695510, PubMed:15908428, PubMed:17213206, PubMed:18171998, PubMed:28442572). Hydrolyzes phosphatidylethanolamine, phosphatidylcholine and probably phosphatidylinositol with a possible preference for the former (PubMed:15695510). Also has a broad substrate specificity in terms of fatty acid moieties, hydrolyzing saturated and mono-unsaturated fatty acids at nearly equal rates from either the sn-1 or sn-2 position in diacyl phosphatidylcholine (PubMed:10744668, PubMed:10833412, PubMed:15695510, PubMed:15908428). However, has a weak activity toward polyunsaturated fatty acids at the sn-2 position, and thereby favors the production of 2-arachidonoyl lysophosphatidylcholine, a key branch point metabolite in eicosanoid signaling (PubMed:15908428). On the other hand, can produce arachidonic acid from the sn-1 position of diacyl phospholipid and from the sn-2 position of arachidonate-containing plasmalogen substrates (PubMed:15908428). Therefore, plays an important role in the mobilization of arachidonic acid in response to cellular stimuli and the generation of lipid second messengers (PubMed:15695510, PubMed:15908428). Can also hydrolyze lysophosphatidylcholine (PubMed:15695510). In the mitochondrial compartment, catalyzes the hydrolysis and release of oxidized aliphatic chains from cardiolipin and integrates mitochondrial bioenergetics and signaling. It is essential for maintaining efficient bioenergetic mitochondrial function through tailoring mitochondrial membrane lipid metabolism and composition (PubMed:28442572)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Key regulator PNPLA8 drives phospholipid reprogramming induced proliferation and migration in triple-negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; These results suggest distinct roles for iPLA2beta and iPLA2gamma in cellular homeostasis and signaling, a functional link between peroxisomal AA release and eicosanoid generation, and a potential contribution of iPLA2gamma to tumorigenesis., [RefSeq, PubMed]; This gene encodes a member of the patatin-like phospholipase domain containing protein family. Members of this family are phospholipases which catalyze the cleavage of fatty acids from membrane phospholipids. The product of this gene is a calcium-independent phospholipase. Mutations in this gene have been associated with mitochondrial myopathy with lactic acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2015]., [RefSeq]; We report two unrelated individuals with variable but similar clinical features of microcephaly, severe global developmental delay, spasticity, lactic acidosis, and progressive cerebellar atrophy with biallelic loss-of-function variants in PNPLA8., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "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": "A4D0S1;C9JZI4;O95035;Q8N3I3;Q9H7T5;Q9NR17;Q9NUN2;Q9NZ79", "ec_number_list": [ { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.2.22", "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": "2.3.1.43", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.43", "type": "external" }, { "id": "3.1.1.47", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.47", "type": "external" }, { "id": "3.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.32", "type": "external" }, { "id": "3.1.1.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.34", "type": "external" }, { "id": "3.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.3", "type": "external" }, { "id": "3.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.13", "type": "external" }, { "id": "3.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.6", "type": "external" }, { "id": "1.11.1.27", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.27", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.-", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" }, { "id": "3.5.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.1", "type": "external" }, { "id": "3.1.1.111", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.111", "type": "external" }, { "id": "3.1.1.118", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.118", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" } ], "go_molecular_function": "GO:0005524 ATP binding;GO:0004622 phosphatidylcholine lysophospholipase activity;GO:0004623 phospholipase A2 activity;GO:0008970 phospholipase A1 activity;GO:0004620 phospholipase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005777 peroxisome;GO:0005778 peroxisomal membrane;GO:0016020 membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0046338 phosphatidylethanolamine catabolic process;GO:0034638 phosphatidylcholine catabolic process;GO:0006631 fatty acid metabolic process;GO:0035556 intracellular signal transduction;GO:0055088 lipid homeostasis", "synthesized_glycan_count": 0, "hit_score": 11.1, "record_id": "Q9NP80-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5R372-1", "uniprot_id": [ { "id": "RBG1L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5R372", "type": "external" } ], "mass": 92513.0, "length": 815, "protein_name": "Rab GTPase-activating protein 1-like", "gene_name": "RABGAP1L", "organism": "Human", "refseq_name": "rab GTPase-activating protein 1-like isoform B", "refseq_ac": [ { "id": "NP_001030307", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001030307", "type": "external" } ], "gene_names_uniprotkb": "RABGAP1L; HHL; KIAA0471", "gene_names_refseq": "HHL; RABGAP1L; TBC1D18", "protein_names_uniprotkb": "Rab GTPase-activating protein 1-like", "protein_names_refseq": "TBC1 domain family, member 18; expressed in hematopoietic cells, heart, liver (HLL); rab GTPase-activating protein 1-like isoform B; rab GTPase-activating protein 1-like", "tax_id": 9606, "disease": "acute myeloid leukemia (Disease Ontology:DOID:9119)", "pathway": " (hsa:9910)", "pathway_count": 1, "publication_count": 83, "publication_id_list": "11237011;12706106;15367492;16533400;16923123;18669648;19184099;19851296;20058876;20068231;20508983;22544926;23335107;23481700;24366607;24714562;24715725;25418920;25576301;25645385;25880248;26154972;26375851;26728094;26811146;26992070;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29632711;30315122;30410026;30429286;30484775;31844290;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34171305;34211107;34357683;34433824;34509645;34561969;34932366;35051231;35318648;35561310;35580925;35705054;36010968;36215666;36241641;36284347;37938771;40914422", "class_list": "", "function": "Deletion variants of RABGAP1L were found to be significantly associated with SLE in Korean women., [RefSeq, PubMed]; GTP-hydrolysis activating protein (GAP) for small GTPase RAB22A, converting active RAB22A-GTP to the inactive form RAB22A-GDP (PubMed:16923123). Plays a role in endocytosis and intracellular protein transport. Recruited by ANK2 to phosphatidylinositol 3-phosphate (PI3P)-positive early endosomes, where it 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, PubMed, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, 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": 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": 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": "O75059;Q3ZTR8;Q5R369;Q8IVV0;Q8N921;Q8WV78;Q9NSP8;Q9UQ19;Q9UQP5;Q9Y6Y5;Q9Y6Y6", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005769 early endosome;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0006897 endocytosis;GO:0015031 protein transport;GO:0032880 regulation of protein localization", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q5R372-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15032-1", "uniprot_id": [ { "id": "R3HD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15032", "type": "external" } ], "mass": 120696.0, "length": 1099, "protein_name": "R3H domain-containing protein 1", "gene_name": "R3HDM1", "organism": "Human", "refseq_name": "R3H domain-containing protein 1 isoform a", "refseq_ac": [ { "id": "NP_001269727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269727", "type": "external" } ], "gene_names_uniprotkb": "R3HDM1; KIAA0029; R3HDM", "gene_names_refseq": "R3HDM1; R3HDM", "protein_names_uniprotkb": "R3H domain-containing protein 1", "protein_names_refseq": "R3H domain (binds single-stranded nucleic acids) containing; R3H domain-containing protein 1 isoform a; R3H domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23518)", "pathway_count": 1, "publication_count": 60, "publication_id_list": "11237011;15144186;15570572;17081983;17287340;17697703;18212344;18452278;18669648;18767875;19240061;19651622;19690332;20068231;21406692;23186163;23301498;23481700;24129315;25892735;26375851;26992070;28832583;28904123;29351928;29437277;29557506;30059200;30379171;30620550;31217245;31844290;32157095;32357974;32387766;32574038;32897882;32938616;32983136;33298915;33750005;33912179;33968037;33981976;34211107;34357683;34509645;35051231;35138101;35254053;35318648;35513511;35561310;35580925;36010968;37340703;37541260;37938771;38665916;39531497", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; R3HDM1 haploinsufficiency is associated with mild intellectual disability., [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": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K1V0;B3KXQ9;E9PBB4;E9PG42;G5E9G8;Q8IW32", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003676 nucleic acid binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q15032-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13636-1", "uniprot_id": [ { "id": "RAB31_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13636", "type": "external" } ], "mass": 21700.0, "length": 195, "protein_name": "Ras-related protein Rab-31", "gene_name": "RAB31", "organism": "Human", "refseq_name": "ras-related protein Rab-31", "refseq_ac": [ { "id": "NP_006859", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006859", "type": "external" } ], "gene_names_uniprotkb": "RAB31; RAB22B", "gene_names_refseq": "RAB31; Rab22B", "protein_names_uniprotkb": "Ras-related protein Rab-31; 3.6.5.2; Ras-related protein Rab-22B", "protein_names_refseq": "ras-related protein Rab-22B; ras-related protein Rab-31", "tax_id": 9606, "disease": "severe acute respiratory syndrome (Disease Ontology:DOID:2945)", "pathway": " (hsa:11031); (R-HSA-6798695); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 4, "publication_count": 225, "publication_id_list": "10.1101/2023.09.13.557529;10818110;10990452;11038176;11141079;11179213;11237011;11389151;11447212;11516400;11675392;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16401880;16410077;1648736;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17081983;17114793;17132146;17189207;17208202;17239822;17287728;17411337;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;1845915;18477474;18532927;18559336;18585354;18664496;18669648;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19603039;19620288;19656848;19725050;19729655;19745841;20008558;20068231;20154091;20159109;20159556;20230923;20305638;20308558;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21255211;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22694141;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23645161;23650620;23678941;23684622;23713133;23839779;24023390;24296415;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25576301;25648148;25713415;25925668;26055712;26177209;26245486;26375851;26434594;26538022;26925400;26936971;26969162;27041585;27044746;27103185;27246931;27329675;27452731;28510447;28832583;29242379;33043033;35863437;36781842;36889366;37222416;37953466;7688123;7911226;7957092;7991565;8144603;8164745;8349690;8375503;8408203;8513495;8522602;8631982;8662963;8692836;8836150;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "A novel membrane targeting domain mediates the endosomal or Golgi localization specificity of small GTPases Rab22 and Rab31., [RefSeq, PubMed]; LncRNA MAGI2-AS3 suppresses castration-resistant prostate cancer proliferation and migration via the miR-106a-5p/RAB31 axis., [RefSeq, PubMed]; Overexpression of RAB31 in gastric cancer is associated with released exosomes and increased tumor cell invasion and metastasis., [RefSeq, PubMed]; RAB31 in glioma-derived endothelial cells promotes glioma cell invasion via extracellular vesicle-mediated enrichment of MYO1C., [RefSeq, PubMed]; Rab31 promotes metastasis and cisplatin resistance in stomach adenocarcinoma through Twist1-mediated EMT. 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 (PubMed:11784320). 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. Required for the integrity and for normal function of the Golgi apparatus and the trans-Golgi network. Plays a role in insulin-stimulated translocation of GLUT4 to the cell membrane. Plays a role in M6PR transport from the trans-Golgi network to endosomes. Plays a role in the internalization of EGFR from the cell membrane into endosomes. Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Thus, Rab22B may have a role in anterograde exit from the trans-Golgi network ., [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": 1, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 6, "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": "B2RBT7;Q15770;Q9HC00", "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": "3.4.24.11", "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": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "2.5.1.60", "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": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "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:0019003 GDP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0001891 phagocytic cup;GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0090382 phagosome maturation;GO:0006886 intracellular protein transport;GO:0006897 endocytosis;GO:0031623 receptor internalization;GO:0032869 cellular response to insulin stimulus", "synthesized_glycan_count": 0, "hit_score": 23.0, "record_id": "Q13636-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10114-1", "uniprot_id": [ { "id": "RAP2A_HUMAN", "url": "https://www.uniprot.org/uniprot/P10114", "type": "external" } ], "mass": 20615.0, "length": 183, "protein_name": "Ras-related protein Rap-2a", "gene_name": "RAP2A", "organism": "Human", "refseq_name": "ras-related protein Rap-2a", "refseq_ac": [ { "id": "NP_066361", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066361", "type": "external" } ], "gene_names_uniprotkb": "RAP2A", "gene_names_refseq": "K-REV; KREV; RAP2A; RAP2; RbBP-30", "protein_names_uniprotkb": "Ras-related protein Rap-2a; 3.6.5.2; RbBP-30", "protein_names_refseq": "RAP2, member of RAS oncogene family (K-rev); ras-related protein Rap-2a", "tax_id": 9606, "disease": "", "pathway": " (hsa:5911)", "pathway_count": 1, "publication_count": 39, "publication_id_list": "10572250;10591105;10777494;11237011;12444546;14966141;15342639;15752761;16246175;16540189;17509819;18930710;1900290;19061864;19645719;20159449;22267739;23894443;27452731;27846572;29557506;3045729;31844290;32350084;32357974;32938616;33968037;34090323;34357683;35051231;35054818;35293963;35538031;38574891;7962206;8391995;8424780;8626586;9312017", "class_list": "", "function": "Interplay of RAP2 GTPase and the cytoskeleton in Hippo pathway regulation., [RefSeq, PubMed]; Simulated Microgravity Increases the Permeability of HUVEC Monolayer through Up-Regulation of Rap1GAP and Decreased Rap2 Activation. Publication Status: Online-Only, [RefSeq, PubMed]; Small GTP-binding protein which cycles between a GDP-bound inactive and a GTP-bound active form (PubMed:14966141, PubMed:15342639, PubMed:16246175, PubMed:16540189, PubMed:18930710, PubMed:20159449, PubMed:35293963). In its active form interacts with and regulates several effectors including MAP4K4, MINK1 and TNIK (PubMed:14966141, PubMed:15342639, PubMed:18930710, PubMed:20159449). Part of a signaling complex composed of NEDD4, RAP2A and TNIK which regulates neuronal dendrite extension and arborization during development (PubMed:20159449). More generally, it is part of several signaling cascades and regulates cytoskeletal rearrangements, cell migration, cell adhesion and cell spreading (PubMed:14966141, PubMed:15342639, PubMed:16246175, PubMed:16540189, PubMed:18930710, PubMed:20159449, PubMed:35293963)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; TGF-beta1-induced RAP2 regulates invasion in pancreatic cancer., [RefSeq, PubMed]; Tumor suppressive role of miR-33a-5p in pancreatic ductal adenocarcinoma cells by directly targeting RAP2A. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitylation by Rab40b/Cul5 regulates Rap2 localization and activity during cell migration., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 10, "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": "B2RCJ1;Q5JSC1;Q5JSC2", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0019003 GDP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0055037 recycling endosome;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:0032486 Rap protein signal transduction;GO:0030335 positive regulation of cell migration;GO:0048814 regulation of dendrite morphogenesis;GO:0030336 negative regulation of cell migration;GO:0030036 actin cytoskeleton organization", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "P10114-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2NL68-1", "uniprot_id": [ { "id": "PRSR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2NL68", "type": "external" } ], "mass": 51075.0, "length": 480, "protein_name": "Proline and serine-rich protein 3", "gene_name": "PROSER3", "organism": "Human", "refseq_name": "proline and serine-rich protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001034976", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034976", "type": "external" } ], "gene_names_uniprotkb": "PROSER3; C19orf55", "gene_names_refseq": "C19orf55; PROSER3", "protein_names_uniprotkb": "Proline and serine-rich protein 3", "protein_names_refseq": "proline and serine-rich protein 3 isoform 1; proline and serine-rich protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:148137)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;23481700;24715725;25576301;26638075;28411811;28832583;28834231;29237092;29242379;29393594;29557506;31844290;32157095;32387766;32488085;32502341;32897882;32938616;33592498;33968037;33981976;34019948;34171305;34509645;34932366;35051231;35254053;35513511;37541260;38665916;39531497;39534244;39894887", "class_list": "", "function": "", "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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "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": "Q8NDI3;Q8WWC8;Q96NL4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q2NL68-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63136-1", "uniprot_id": [ { "id": "POK25_HUMAN", "url": "https://www.uniprot.org/uniprot/P63136", "type": "external" } ], "mass": 107472.0, "length": 954, "protein_name": "Endogenous retrovirus group K member 25 Pol protein", "gene_name": "ERVK-25", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ERVK-25", "gene_names_refseq": "", "protein_names_uniprotkb": "Endogenous retrovirus group K member 25 Pol protein; HERV-K_11q22.1 provirus ancestral Pol protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "15063128", "class_list": "", "function": "Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution (By similarity)., [UniProtKB]; Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution (By similarity)., [UniProtKB]; Retroviral proteases have roles in processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution. This endogenous protein has retained most of the characteristics of retroviral proteases., [UniProtKB]; Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity)., [UniProtKB]; SU mediates receptor recognition., [UniProtKB]; TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity)., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 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": 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": [ { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.7.7.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.31", "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": "3.1.26.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.4", "type": "external" }, { "id": "3.4.23.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.50", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.7.102", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.102", "type": "external" } ], "go_molecular_function": "GO:0005198 structural molecule activity;GO:0003723 RNA binding;GO:0003964 RNA-directed DNA polymerase activity;GO:0003677 DNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0051028 mRNA transport;GO:0006310 DNA recombination;GO:0006261 DNA-templated DNA replication;GO:0015074 DNA integration;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P63136-1", "record_type": "protein", "filter_code": "0000000.0000100.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35998-1", "uniprot_id": [ { "id": "PRS7_HUMAN", "url": "https://www.uniprot.org/uniprot/P35998", "type": "external" } ], "mass": 48634.0, "length": 433, "protein_name": "26S proteasome regulatory subunit 7", "gene_name": "PSMC2", "organism": "Human", "refseq_name": "26S proteasome regulatory subunit 7 isoform 2", "refseq_ac": [ { "id": "NP_001191382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191382", "type": "external" } ], "gene_names_uniprotkb": "PSMC2; MSS1", "gene_names_refseq": "MSS1; Nbla10058; PSMC2; RPT1; S7", "protein_names_uniprotkb": "26S proteasome regulatory subunit 7; 26S proteasome AAA-ATPase subunit RPT1; Proteasome 26S subunit ATPase 2", "protein_names_refseq": "26S protease regulatory subunit 7; 26S proteasome AAA-ATPase subunit RPT1; 26S proteasome regulatory subunit 7 isoform 2; 26S proteasome regulatory subunit 7; mammalian suppressor of sgv-1 of yeast; protease 26S subunit 7; proteasome (prosome, macropain) 26S subunit, ATPase, 2; putative protein product of Nbla10058; testis secretory sperm-binding protein Li 197a", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:5701); (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": 1066, "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. PSMC2 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; PSMC2 knockdown exerts an anti-tumor role in nasopharyngeal carcinoma through regulating AKT signaling pathway., [RefSeq, PubMed]; PSMC2 promotes glioma progression by regulating immune microenvironment and PI3K/AKT/mTOR pathway., [RefSeq, PubMed]; The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the ATPase subunits, a member of the triple-A family of ATPases which have a chaperone-like activity. This subunit has been shown to interact with several of the basal transcription factors so, in addition to participation in proteasome functions, this subunit may participate in the regulation of transcription. This subunit may also compete with PSMC3 for binding to the HIV tat protein to regulate the interaction between the viral protein and the transcription complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [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": 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": 6, "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": "A4D0Q1;B7Z5E2;Q3LIA5;Q9UDI3", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0036402 proteasome-activating activity", "go_cellular_component": "GO:0008540 proteasome regulatory particle, base subcomplex;GO:0022624 proteasome accessory complex;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0071357 cellular response to type I interferon;GO:0006979 response to oxidative stress;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010498 proteasomal protein catabolic process;GO:0001649 osteoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 107.1, "record_id": "P35998-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NI28-1", "uniprot_id": [ { "id": "RHG42_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NI28", "type": "external" } ], "mass": 98569.0, "length": 874, "protein_name": "Rho GTPase-activating protein 42", "gene_name": "ARHGAP42", "organism": "Human", "refseq_name": "rho GTPase-activating protein 42 isoform 1", "refseq_ac": [ { "id": "NP_689645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689645", "type": "external" } ], "gene_names_uniprotkb": "ARHGAP42; GRAF3; TMEM133", "gene_names_refseq": "AD031; ARHGAP42; GRAF3; TMEM133", "protein_names_uniprotkb": "Rho GTPase-activating protein 42; Rho GTPase-activating protein 10-like; Rho-type GTPase-activating protein 42", "protein_names_refseq": "rho GTPase-activating protein 42 isoform 1; rho GTPase-activating protein 42; rho-type GTPase-activating protein 42; transmembrane protein 133", "tax_id": 9606, "disease": "Billuart-type X-linked syndromic intellectual developmental disorder (Disease Ontology:DOID:0080311)", "pathway": " (hsa:143872); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013423)", "pathway_count": 6, "publication_count": 365, "publication_id_list": "10.1101/2023.09.13.557529;10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10619026;10699171;10699464;10724160;10847683;10873388;10873802;10958683;11007481;11058585;11085924;11145705;11149925;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11707441;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11919634;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;15169870;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15542837;15579468;15601624;15611138;15728722;15814684;15850391;15858067;15866170;15897194;16002401;16081809;16112081;16116428;16184169;16217026;16243035;16243036;16467373;16473593;16492808;16507994;16519628;1660188;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16968698;17060455;17064668;17077126;17145773;17158234;17196961;17214551;17244649;17269730;17562871;17583407;17599059;17698854;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18191593;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18662984;18669648;18697831;18786931;18829452;18835169;18838382;18929667;19269969;19494238;19534724;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21151158;21351730;21378159;21454492;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;22911862;22970203;22992742;23200924;23209303;23255595;23288169;23406282;23434736;23572525;23707487;23718289;23757206;23870057;23870313;23940355;24086303;24128008;24259668;24335996;24352656;24366607;24584464;24623723;24715725;24859002;24933155;24960694;24996924;25024229;25211221;25428919;25576301;25704760;25721503;25795300;25862245;25963737;26016997;26090577;26129894;26299518;26371245;26529257;26598554;26628301;26887924;26992070;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27986909;28028151;28112683;28114311;28196833;28356423;28584191;28825699;28832583;28860633;29089502;29099324;29146911;29358323;29382922;29557506;30061681;30853411;30903111;31105010;31389670;31844290;31871319;31886719;32157095;32203420;32331391;32357974;32387766;32710738;32938616;33091337;33912179;33936100;33968037;33981976;34171305;34232960;34509645;35561310;36010968;36241641;37938771;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;9705280;9792683;9822598;9822605;9829970;9843499;9846874;9988689", "class_list": "", "function": "A decreased expression level of Rho GTPase-activating protein 42 gene (ARHGAP42) mRNA in the blood was found in the translocation carriers relative to controls., [RefSeq, PubMed]; A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings. Publication Status: Online-Only, [RefSeq, PubMed]; ARHGAP42 expression was inhibited by micro-RNA 505 (miR505) which interacted with the ARHGAP42 3'-untranslated region (UTR) to facilitate its degradation and by AK124326, a long noncoding RNA that overlaps with the ARHGAP42 transcription start site on the opposite DNA strand, [RefSeq, PubMed]; GRAF3 serves as a blood volume-sensitive rheostat to control smooth muscle contractility and blood pressure., [RefSeq, PubMed]; Maternal Hypertension-Related Genotypes and Congenital Heart Defects., [RefSeq, PubMed]; May influence blood pressure by functioning as a GTPase-activating protein for RHOA in vascular smooth muscle., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The smooth muscle-selective GRAF3 is a critical regulator of vascular tone and hypertension., [RefSeq, PubMed]; This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to regulate vascular tone and control blood pressure. A mutation in the first intron of this gene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 9781, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q96M56", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0007165 signal transduction;GO:0090630 activation of GTPase activity", "synthesized_glycan_count": 0, "hit_score": 37.0, "record_id": "A6NI28-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DJD0-1", "uniprot_id": [ { "id": "RGPD1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DJD0", "type": "external" } ], "mass": 196662.0, "length": 1748, "protein_name": "RANBP2-like and GRIP domain-containing protein 1", "gene_name": "RGPD1", "organism": "Human", "refseq_name": "RANBP2-like and GRIP domain-containing protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001019628", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019628", "type": "external" } ], "gene_names_uniprotkb": "RGPD1; RANBP2L6; RGP1", "gene_names_refseq": "RGP1; RGPD1; RanBP2L2; ranBP2L6", "protein_names_uniprotkb": "RANBP2-like and GRIP domain-containing protein 1; Ran-binding protein 2-like 6; RanBP2-like 6; RanBP2L6", "protein_names_refseq": "RANBP2-like and GRIP domain-containing protein 1 isoform 2; RANBP2-like and GRIP domain-containing protein 1/2; RANBP2-like and GRIP domain-containing protein 1; ran-binding protein 2-like 2/6; ran-binding protein 2-like 6; ranBP2-like 2/6; ranBP2-like 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:400966)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;19913121;20068231;20628086;23481700;25418920;25645385;25892735;26375851;26929215;27397612;28904123;30620550;31844290;32357974;32387766;36215666", "class_list": "", "function": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 10, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "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": "P0C839;Q68DN6;Q6V1X0", "ec_number_list": [], "go_molecular_function": "GO:0019789 SUMO transferase activity", "go_cellular_component": "GO:0005643 nuclear pore", "go_biological_process": "GO:0051168 nuclear export;GO:0006607 NLS-bearing protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "P0DJD0-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NT04-1", "uniprot_id": [ { "id": "TIGD7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NT04", "type": "external" } ], "mass": 63236.0, "length": 549, "protein_name": "Tigger transposable element-derived protein 7", "gene_name": "TIGD7", "organism": "Human", "refseq_name": "tigger transposable element-derived protein 7", "refseq_ac": [ { "id": "NP_149985", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149985", "type": "external" } ], "gene_names_uniprotkb": "TIGD7", "gene_names_refseq": "Sancho; TIGD7", "protein_names_uniprotkb": "Tigger transposable element-derived protein 7", "protein_names_refseq": "tigger transposable element-derived protein 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:91151)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;15487591;25505266;28218747;28904123;31848261", "class_list": "", "function": "TIGD7 is a Jerky and JRK/JH8 like gene, [RefSeq, PubMed]; The protein encoded by this gene belongs to the tigger subfamily of the pogo superfamily of DNA-mediated transposons in humans. These proteins are related to DNA transposons found in fungi and nematodes, and more distantly to the Tc1 and mariner transposases. They are also very similar to the major mammalian centromere protein B. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "Q9BXZ0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6NT04-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48065-1", "uniprot_id": [ { "id": "S6A12_HUMAN", "url": "https://www.uniprot.org/uniprot/P48065", "type": "external" } ], "mass": 69368.0, "length": 614, "protein_name": "Sodium- and chloride-dependent betaine transporter", "gene_name": "SLC6A12", "organism": "Human", "refseq_name": "sodium- and chloride-dependent betaine transporter", "refseq_ac": [ { "id": "NP_001116319", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116319", "type": "external" } ], "gene_names_uniprotkb": "SLC6A12; BGT1", "gene_names_refseq": "BGT-1; BGT1; GAT2; SLC6A12", "protein_names_uniprotkb": "Sodium- and chloride-dependent betaine transporter; BGT-1; Na(+)/Cl(-) betaine/GABA transporter; Solute carrier family 6 member 12", "protein_names_refseq": "Na(+)/Cl(-) betaine/GABA transporter; betaine/GABA transporter-1; gamma-aminobutyric acid transporter; sodium- and chloride-dependent betaine transporter; solute carrier family 6 (neurotransmitter transporter), member 12; solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12", "tax_id": 9606, "disease": "", "pathway": " (hsa:6539); (R-HSA-352230); (R-HSA-71288); (R-HSA-888593)", "pathway_count": 4, "publication_count": 57, "publication_id_list": "10358010;10391915;10485994;10698697;10823827;10863037;10891391;10903140;10930503;11237011;11243884;11278508;11318953;11342143;11417227;11555793;11591158;11827462;12111824;12202949;12527723;12809675;12889669;12930836;15044463;15151999;15659399;15918515;16198020;16981706;18195088;21097500;2324105;24652292;24715725;25892735;26348906;2914937;31108110;32114438;33912179;35051231;38871234;7589472;7861179;7945388;8010975;8101838;8340364;8651275;8702519;8910405;9148748;9174363;9218780;9722522;9878049", "class_list": "", "function": "BGT-1 is expressed from mRNA and transports GABA in platelets., [RefSeq, PubMed]; Overexpression of solute carrier family 6 member 12 promotes cell injury in Parkinson's disease via MAPK signaling pathway., [RefSeq, PubMed]; Protein kinases as regulators of osmolyte accumulation under stress conditions: An overview. Review article Publication Status: Online-Only, [RefSeq, PubMed]; The primary structure of BGT-1 predicts two putative phosphorylation sites for the Ca2+/diacylglycerol-dependent protein kinase (PKC), which regulates BGT-1 function by phosphorylation events in a transport system expressed in cultured astrocytoma cells., [RefSeq, PubMed]; This review gathers the current structural and functional knowledge on BGT1 with emphasis on brain relevance, discusses all available compounds, and tries to shed light on the molecular determinants driving BGT1 selectivity--{REVIEW} Review article, [RefSeq, PubMed]; Transporter that mediates cellular uptake of betaine and GABA in a sodium- and chloride-dependent process (PubMed:7589472). May have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation. Probably also involved in renal and hepatic osmotic regulation (By similarity)., [UniProtKB, PubMed, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A0AV52;B2R992;D3DUN8", "ec_number_list": [], "go_molecular_function": "GO:0005332 gamma-aminobutyric acid:sodium:chloride symporter activity;GO:0015171 amino acid transmembrane transporter activity;GO:0008028 monocarboxylic acid transmembrane transporter activity;GO:0046872 metal ion binding;GO:0015293 symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0042995 cell projection;GO:0098793 presynapse", "go_biological_process": "GO:0031460 glycine betaine transport;GO:0006865 amino acid transport;GO:0035725 sodium ion transmembrane transport;GO:0015812 gamma-aminobutyric acid transport;GO:0015718 monocarboxylic acid transport", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P48065-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10619-1", "uniprot_id": [ { "id": "PPGB_HUMAN", "url": "https://www.uniprot.org/uniprot/P10619", "type": "external" } ], "mass": 54466.0, "length": 480, "protein_name": "Lysosomal protective protein", "gene_name": "CTSA", "organism": "Human", "refseq_name": "lysosomal protective protein isoform b preproprotein", "refseq_ac": [ { "id": "NP_001121167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121167", "type": "external" } ], "gene_names_uniprotkb": "CTSA; PPGB", "gene_names_refseq": "BSVD6; CTSA; GLB2; GSL; NGBE; PPCA; PPGB", "protein_names_uniprotkb": "Lysosomal protective protein; 3.4.16.5; Carboxypeptidase C; Carboxypeptidase L; Cathepsin A; PPCA; Protective protein cathepsin A; Protective protein for beta-galactosidase", "protein_names_refseq": "beta-galactosidase 2; beta-galactosidase protective protein; carboxypeptidase C; carboxypeptidase Y-like kininase; carboxypeptidase-L; deamidase; lysosomal carboxypeptidase A; lysosomal protective protein isoform b preproprotein; lysosomal protective protein; protective protein cathepsin A; urinary kininase", "tax_id": 9606, "disease": "brain small vessel disease 6 with leukoencephalopathy (Disease Ontology:DOID:0061236); galactosialidosis (Disease Ontology:DOID:0080540); lysosomal storage disease (Disease Ontology:DOID:3211)", "pathway": " (hsa:5476); (R-HSA-2132295); (R-HSA-4085001); (R-HSA-4341670); (R-HSA-6798695); (R-HSA-9840310)", "pathway_count": 6, "publication_count": 328, "publication_id_list": "10.1101/2023.09.13.557529;10036229;10064083;10072072;10191093;10196694;10206952;10330343;10334995;10405317;10406958;10431835;10480952;10504389;10536037;10540230;10581036;10593899;10631941;10631952;10639150;10742600;10748235;10749855;10781797;10809954;10823942;10861246;10942779;10944848;10947946;10993717;11062056;11237011;11279095;11350180;11466336;11489889;11528398;11529500;11602804;11684289;11702224;11707436;11751519;11784319;11790530;11813165;11853874;11916006;12078484;12177386;12198549;12235148;12374214;12473780;12510003;12518053;12566438;12594539;12603328;12662933;12665801;12668675;12742663;12743242;12748383;12885774;12888274;12909021;1352293;1352993;14695530;14731593;14962670;15003450;15104674;15136692;15213228;15458386;15501818;15576474;15714521;15749704;15773042;15845354;15911768;16115862;16147865;16181339;16229686;16230343;16237198;16242130;16263699;1634229;16478472;16517606;16595074;16618111;16698036;1670590;1678251;16824007;1694176;17105727;17123352;17142755;1718266;1720305;17283181;17308301;1740330;1756715;17975675;18046453;18160138;18292509;1840600;18507432;18524657;18632803;1889421;1907282;1907800;1915858;19159218;19405096;1956401;19564404;19797320;19836391;2001789;20112406;20728381;21081508;21081667;21116285;2121367;21441454;2148053;21654843;2190094;22299025;22692205;23090970;23481700;235289;23650620;2391366;239890;24190977;24715725;25418920;25469497;25502872;25576301;2562955;25645385;26154972;26811146;26929215;26992070;27090790;2717620;27600516;27664989;27726376;27846572;27920218;28063628;28126847;28218747;28228285;28467828;28514659;28832583;28834231;28860189;28871256;28904123;29242379;29314611;29317506;29393594;29437277;29443946;29557506;2960521;29632046;29632711;2965147;29692406;2970528;2971395;29741879;29747811;2976757;29786170;29789417;29802621;3014515;30315122;30410026;3048308;30484775;30524438;30573663;30626607;30833945;31154438;31217245;3136930;3149149;31495489;31530632;3158659;31844290;31848261;31998317;32157095;32265295;32350084;32357974;32387766;32897882;32938616;32983136;33043033;33091337;33141586;33298915;33392160;33592498;33912179;33936100;33968037;34019948;34078123;34087483;34171305;34357683;34433824;34509645;3456607;34932366;35051231;35154160;35251023;35318648;35580925;35904593;36010968;36065643;36215666;36241641;36284347;37074911;37205763;37217939;37287981;37938771;38081446;38665916;39940;5135907;5164093;527942;5822067;7252518;7481823;7504405;7559389;7592972;7628016;7650016;7667286;7730378;7744740;7852280;8046351;8134367;8145819;8148318;8281145;8313912;8333853;8370580;8397411;8399327;8415765;8514852;8573994;8591035;8611500;8631981;8642258;8663398;8687433;8692836;8804427;8849454;8889578;8909537;8920913;8939989;8947036;8955159;8968752;8985184;9010752;9054950;9075930;9199191;9202021;9217013;9311912;9312039;9338580;9497313;9520418;9521684;9539769;9545226;9603439;9606180;9822625;9826427", "class_list": "glycogene", "function": "Combining WGCNA and machine learning to construct basement membrane-related gene index helps to predict the prognosis and tumor microenvironment of HCC patients and verifies the carcinogenesis of key gene CTSA. Publication Status: Online-Only, [RefSeq, PubMed]; Identification of the prognostic, diagnostic, and biological significance of the miR-148a-3p/cathepsin A axis in hepatocellular carcinoma., [RefSeq, PubMed]; Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. This protein is also a carboxypeptidase and can deamidate tachykinins., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Proteomics analysis of serum and urine identifies VCP and CTSA as potential biomarkers associated with multiple myeloma., [RefSeq, PubMed]; This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [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": 6, "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": 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": 2, "reported_phosphosites": 0, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 602, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 58, "disease_count": 3, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B2R798;Q561W6;Q5JZH1;Q96KJ2;Q9BR08;Q9BW68", "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": "3.4.22.43", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.43", "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": "3.4.23.5", "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": "3.4.22.15", "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": "3.2.1.31", "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": "3.4.23.34", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.34", "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": "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": "3.1.6.4", "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": "3.4.22.42", "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": "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": "3.2.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.18", "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": "3.4.22.41", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.22.41", "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:0008047 enzyme activator activity;GO:0004180 carboxypeptidase activity;GO:0004185 serine-type carboxypeptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0005764 lysosome", "go_biological_process": "GO:1904715 negative regulation of chaperone-mediated autophagy;GO:0006508 proteolysis;GO:0006886 intracellular protein transport;GO:0031647 regulation of protein stability;GO:1904714 regulation of chaperone-mediated autophagy", "synthesized_glycan_count": 0, "hit_score": 39.4, "record_id": "P10619-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P63133-1", "uniprot_id": [ { "id": "POK8_HUMAN", "url": "https://www.uniprot.org/uniprot/P63133", "type": "external" } ], "mass": 107703.0, "length": 956, "protein_name": "Endogenous retrovirus group K member 8 Pol protein", "gene_name": "ERVK-8", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ERVK-8", "gene_names_refseq": "", "protein_names_uniprotkb": "Endogenous retrovirus group K member 8 Pol protein; HERV-K115 Pol protein; HERV-K_8p23.1 provirus ancestral Pol protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11591322;12629516;12970426;14557543;15063128;7983737", "class_list": "", "function": "Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution., [UniProtKB]; Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. Endogenous envelope proteins may have kept, lost or modified their original function during evolution. This endogenous envelope protein has lost its original fusogenic properties., [UniProtKB, PubMed]; Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution., [UniProtKB]; Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity)., [UniProtKB]; SU mediates receptor recognition., [UniProtKB]; TM anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (By similarity)., [UniProtKB]; The products of the Gag polyproteins of infectious retroviruses perform highly complex orchestrated tasks during the assembly, budding, maturation, and infection stages of the viral replication cycle. During viral assembly, the proteins form membrane associations and self-associations that ultimately result in budding of an immature virion from the infected cell. Gag precursors also function during viral assembly to selectively bind and package two plus strands of genomic RNA. Endogenous Gag proteins may have kept, lost or modified their original function during evolution., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.7.7.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.31", "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": "3.1.26.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.4", "type": "external" }, { "id": "3.4.23.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.50", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.7.102", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.102", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0005198 structural molecule activity;GO:0003676 nucleic acid binding;GO:0004190 aspartic-type endopeptidase activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0016032 viral process;GO:0006508 proteolysis;GO:0075523 viral translational frameshifting;GO:0051028 mRNA transport;GO:0006310 DNA recombination", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P63133-1", "record_type": "protein", "filter_code": "0000000.0000100.010000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y244-1", "uniprot_id": [ { "id": "POMP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y244", "type": "external" } ], "mass": 15789.0, "length": 141, "protein_name": "Proteasome maturation protein", "gene_name": "POMP", "organism": "Human", "refseq_name": "proteasome maturation protein", "refseq_ac": [ { "id": "NP_057016", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057016", "type": "external" } ], "gene_names_uniprotkb": "POMP; C13orf12; HSPC014; HSPC036; PNAS-110; UMP1", "gene_names_refseq": "C13orf12; HSPC014; PNAS-110; POMP; PRAAS2; UMP1", "protein_names_uniprotkb": "Proteasome maturation protein; Proteassemblin; Protein UMP1 homolog; Voltage-gated K channel beta subunit 4.1; hUMP1", "protein_names_refseq": "2510048O06Rik; hUMP1; proteasome maturation protein; proteassemblin; protein UMP1 homolog; voltage-gated K channel beta subunit 4.1; voltage-gated potassium channel beta subunit 4.1", "tax_id": 9606, "disease": "proteosome-associated autoinflammatory syndrome 2 (Disease Ontology:DOID:0060914); keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome (MONDO:MONDO:0011169)", "pathway": " (hsa:51371); (R-HSA-9907900)", "pathway_count": 2, "publication_count": 82, "publication_id_list": "10.1101/2023.09.13.557529;10891394;10926487;10973495;11237011;14733938;15831487;15944226;16251969;16624403;16990800;17189198;17540904;17948026;18991276;19490896;20226437;20471946;23481700;23495936;24366607;25418920;25576301;25645385;26154972;26375851;26524591;26929215;26992070;27600516;27846572;27920218;28228285;28263418;28442575;28514659;28598414;28832583;28904123;29242379;29331515;29393594;29493099;29557506;29805043;30315122;30429286;30524438;30779550;31154438;31217245;31530632;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32425927;32488085;32502341;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33912179;33936100;33968037;34171305;34509645;34561969;35051231;35251023;35580925;36010968;36241641;36284347;37938771", "class_list": "", "function": "KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[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": 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": 11, "reported_interactions": 0, "missing_score": 9671, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A5HKJ2;D6MXU3;Q9HB69", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0043248 proteasome assembly", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q9Y244-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GD0-1", "uniprot_id": [ { "id": "PLPP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GD0", "type": "external" } ], "mass": 31698.0, "length": 296, "protein_name": "Chronophin", "gene_name": "PDXP", "organism": "Human", "refseq_name": "chronophin", "refseq_ac": [ { "id": "NP_064711", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064711", "type": "external" } ], "gene_names_uniprotkb": "PDXP; CIN; PLPP; PLP", "gene_names_refseq": "CIN; PDXP; PLP; dJ37E16.5", "protein_names_uniprotkb": "Chronophin; 3.1.3.16; 3.1.3.74; PLP phosphatase; Pyridoxal phosphate phosphatase", "protein_names_refseq": "PLP phosphatase; chronophin; pyridoxal (pyridoxine, vitamin B6) phosphatase; pyridoxal phosphate phosphatase; testicular secretory protein Li 36", "tax_id": 9606, "disease": "", "pathway": " (hsa:57026)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "11237011;14522954;15580268;16336786;18058037;18477386;19000834;23223568;26324884;26992070;29724193;32157095;35051231;40914422;8132548", "class_list": "", "function": "Analysis of brain pyridoxal-5'-phosphate phosphatase, [RefSeq, PubMed]; Analysis of pyridoxal phosphatase cloning, expression and tissue distribution, [RefSeq, PubMed]; Chronophin has a role in coordinating cell leading edge dynamics by controlling active cofilin levels, [RefSeq, PubMed]; Functions as a pyridoxal phosphate (PLP) phosphatase, which also catalyzes the dephosphorylation of pyridoxine 5'-phosphate (PNP) and pyridoxamine 5'-phosphate (PMP), with order of substrate preference PLP > PNP > PMP and therefore plays a role in vitamin B6 metabolism (PubMed:14522954, PubMed:8132548). Also functions as a protein serine phosphatase that specifically dephosphorylates 'Ser-3' in proteins of the actin-depolymerizing factor (ADF)/cofilin family like CFL1 and DSTN. Thereby, regulates cofilin-dependent actin cytoskeleton reorganization, being required for normal progress through mitosis and normal cytokinesis. Does not dephosphorylate phosphothreonines in LIMK1. Does not dephosphorylate peptides containing phosphotyrosine (PubMed:15580268)., [UniProtKB, PubMed, PubMed, PubMed]; In non-adherent glioblastoma cell lines cultured in serum-free medium, chronophin knockdown induces phenotypic changes, e.g. in colony formation and transcription, but these are highly dependent on the cellular background. CIN knockdown in the glioblastoma cell lines NCH421k and NCH644 increased active vitamin B6 levels. Publication Status: Online-Only, [RefSeq, PubMed]; Pyridoxal 5-prime-phosphate (PLP) is the active form of vitamin B6 that acts as a coenzyme in maintaining biochemical homeostasis. The preferred degradation route from PLP to 4-pyridoxic acid involves the dephosphorylation of PLP by PDXP (Jang et al., 2003 [PubMed 14522954]).[supplied by OMIM, Mar 2008]., [RefSeq]; Splicing of SH3BP1 and CIN gene loci produces the novel brain specific splice variant BGIN., [RefSeq, PubMed]; Study demonstrates the ATP-sensitive interaction of the cofilin phosphatase chronophin (CIN) with the chaperone hsp90 to form a biosensor that mediates cofilin/actin rod formation., [RefSeq, PubMed]; We report the biochemical isolation of chronophin (CIN), a unique cofilin-activating phosphatase of the haloacid dehalogenase (HAD) superfamily and an important novel regulator of cofilin-mediated actin reorganization., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q9UGY2", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "3.1.3.67", "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": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "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" } ], "go_molecular_function": "GO:0033883 pyridoxal phosphatase activity;GO:0000287 magnesium ion binding;GO:0042803 protein homodimerization activity;GO:0031072 heat shock protein binding;GO:0004722 protein serine/threonine phosphatase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0005911 cell-cell junction", "go_biological_process": "GO:0016311 dephosphorylation;GO:0032361 pyridoxal phosphate catabolic process;GO:0006470 protein dephosphorylation;GO:0007088 regulation of mitotic nuclear division;GO:0032465 regulation of cytokinesis", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q96GD0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15166-1", "uniprot_id": [ { "id": "PON3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15166", "type": "external" } ], "mass": 39607.0, "length": 354, "protein_name": "Serum paraoxonase/lactonase 3", "gene_name": "PON3", "organism": "Human", "refseq_name": "serum paraoxonase/lactonase 3", "refseq_ac": [ { "id": "NP_000931", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000931", "type": "external" } ], "gene_names_uniprotkb": "PON3", "gene_names_refseq": "PON3", "protein_names_uniprotkb": "Serum paraoxonase/lactonase 3; 3.1.1.2; 3.1.1.81; 3.1.8.1", "protein_names_refseq": "arylesterase 3; paraoxanase-3; serum paraoxonase/lactonase 3", "tax_id": 9606, "disease": "celiac disease (Disease Ontology:DOID:10608); Alzheimer's disease (Disease Ontology:DOID:10652); neurodegenerative disease (Disease Ontology:DOID:1289); atherosclerosis (Disease Ontology:DOID:1936); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); ulcerative colitis (Disease Ontology:DOID:8577); Crohn's disease (Disease Ontology:DOID:8778)", "pathway": " (hsa:5446); (R-HSA-2142688); (R-HSA-9754706)", "pathway_count": 3, "publication_count": 44, "publication_id_list": "10549853;10601278;11038166;11115402;11237011;11950779;12151850;12588779;15497697;15772423;15801541;16335952;18452278;18720283;19082953;19690332;19794410;21278621;21852972;23090970;23531488;23562342;24799396;26412035;29242379;29557506;3006030;30192525;3118366;3164719;31816846;32549522;32938616;33057386;33128247;34045219;34634315;34932366;35051231;37074911;6816802;8428933;8661009;9414488", "class_list": "", "function": "Altered HDL proteome predicts incident CVD in chronic kidney disease patients., [RefSeq, PubMed]; Decreased coronary heart disease risk associated with polymorphisms of paraoxonase 1. Review article, [RefSeq, PubMed]; Has low activity towards the organophosphate paraxon and aromatic carboxylic acid esters. Rapidly hydrolyzes lactones such as statin prodrugs (e.g. lovastatin). Hydrolyzes aromatic lactones and 5- or 6-member ring lactones with aliphatic substituents but not simple lactones or those with polar substituents., [UniProtKB, PubMed]; Micro- and macrovascular cardiac allograft vasculopathy in relation to 91 cardiovascular biomarkers in heart transplant recipients-An exploratory study., [RefSeq, PubMed]; Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator), [RefSeq, PubMed]; Paraoxonase 3 gene polymorphisms are associated with occupational noise-induced deafness: A matched case-control study from China. Publication Status: Online-Only, [RefSeq, PubMed]; Paraoxonase 3: Structure and Its Role in Pathophysiology of Coronary Artery Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Serum paraoxonase 1 and 3 activities in benign and malignant diseases of the prostate and changes in levels following robotic-assisted laparoscopic radical prostatectomy Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the paraoxonase family and lies in a cluster on chromosome 7 with the other two family members. The encoded protein is secreted into the bloodstream and associates with high-density lipoprotein (HDL). The protein also rapidly hydrolyzes lactones and can inhibit the oxidation of low-density lipoprotein (LDL), a function that is believed to slow the initiation and progression of atherosclerosis. Alternatively spliced variants which encode different protein isoforms have been described; however, only one has been fully characterized. [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": 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": 16, "reported_interactions": 0, "missing_score": 9671, "biomarker_type": "", "glycan_count": 3, "disease_count": 7, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A4D1H8;O75855;O76060;Q6IRU9;Q8IX97;Q9BZH9", "ec_number_list": [ { "id": "3.1.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.2", "type": "external" }, { "id": "3.1.1.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.81", "type": "external" }, { "id": "3.1.8.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.8.1", "type": "external" } ], "go_molecular_function": "GO:0004063 aryldialkylphosphatase activity;GO:0102007 acyl-L-homoserine-lactone lactonohydrolase activity;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding;GO:0004064 arylesterase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0046395 carboxylic acid catabolic process;GO:0032929 negative regulation of superoxide anion generation;GO:0009636 response to toxic substance;GO:2001038 regulation of cellular response to drug;GO:1901335 lactone catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q15166-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15195-1", "uniprot_id": [ { "id": "PLGA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15195", "type": "external" } ], "mass": 10915.0, "length": 96, "protein_name": "Plasminogen-like protein A", "gene_name": "PLGLA", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PLGLA; PLGLA1; PLGP2; PRGA", "gene_names_refseq": "", "protein_names_uniprotkb": "Plasminogen-like protein A; Plasminogen-like protein A1; Plasminogen-related protein A", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "10092845;1554698", "class_list": "", "function": "May bind non-covalently to lysine binding sites present in the kringle structures of plasminogen. This may interfere with the binding of fibrin or alpha-2-antiplasmin to plasminogen and may result in the localization of activity at sites necessary for extracellular matrix destruction (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q15195-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q32ZL2-1", "uniprot_id": [ { "id": "PLPR5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q32ZL2", "type": "external" } ], "mass": 35427.0, "length": 321, "protein_name": "Phospholipid phosphatase-related protein type 5", "gene_name": "PLPPR5", "organism": "Human", "refseq_name": "phospholipid phosphatase-related protein type 5 isoform 2", "refseq_ac": [ { "id": "NP_001010861", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010861", "type": "external" } ], "gene_names_uniprotkb": "PLPPR5; LPPR5; PAP2D; PRG5", "gene_names_refseq": "LPPR5; PAP2D; PAP2; PLPPR5; PRG5", "protein_names_uniprotkb": "Phospholipid phosphatase-related protein type 5; Lipid phosphate phosphatase-related protein type 5; PRG-5; Phosphatidic acid phosphatase type 2d; Plasticity-related gene 5 protein", "protein_names_refseq": "PRG-5; lipid phosphate phosphatase-related protein type 5; phosphatidic acid phosphatase 2d; phosphatidic acid phosphatase type 2d; phosphatidic acid phosphatase type 2; phospholipid phosphatase-related protein type 5 isoform 2; phospholipid phosphatase-related protein type 5; plasticity-related gene 5 protein; plasticity-related protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:163404); (R-HSA-419408)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10488065;10488122;10617617;10727522;10753843;10799507;11237011;12427546;12730698;16010976;19366702;20032306;20061941;2160972;23388400;24900670;26990079;29735753;31844290;32938616;35051231;37938771;8626678;8878560;9070858;9525886;9804623", "class_list": "", "function": "A novel human phosphatidic acid phosphatase type 2 isoform cDNAs (PAP2d) from the fetal brain cDNA library was cloned and characterized., [RefSeq, PubMed]; Induces filopodia formation and promotes neurite growth in a CDC42-independent manner; impedes neurite growth inhibitory-mediated axonal retraction., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is a type 2 member of the phosphatidic acid phosphatase (PAP) family. All type 2 members of this protein family contain 6 transmembrane regions, and a consensus N-glycosylation site. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A8MPX4;B7UCH3;Q32ZD0;Q3ZCU7", "ec_number_list": [], "go_molecular_function": "GO:0008195 phosphatidate phosphatase activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0010976 positive regulation of neuron projection development;GO:0051491 positive regulation of filopodium assembly;GO:0006644 phospholipid metabolic process;GO:0046839 phospholipid dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "Q32ZL2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PJE2-4", "uniprot_id": [ { "id": "POZP3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PJE2", "type": "external" } ], "mass": 20620.0, "length": 187, "protein_name": "POM121 and ZP3 fusion protein", "gene_name": "POMZP3", "organism": "Human", "refseq_name": "POM121 and ZP3 fusion protein isoform 1", "refseq_ac": [ { "id": "NP_036362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036362", "type": "external" } ], "gene_names_uniprotkb": "POMZP3", "gene_names_refseq": "POM-ZP3; POMZP3", "protein_names_uniprotkb": "POM121 and ZP3 fusion protein; POM-ZP3", "protein_names_refseq": "POM (POM121 homolog, rat) and ZP3 fusion; POM (POM121 rat homolog) and ZP3 fusion; POM-ZP3 fusion protein; POM121 and ZP3 fusion protein isoform 1; POM121 and ZP3 fusion protein; POM121/ZP3 fusion protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:22932)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "25576301;27600516;28832583;29786170;30315122;32502341;7789967", "class_list": "", "function": "This gene appears to have resulted from a fusion of DNA sequences derived from 2 distinct loci, specifically through the duplication of two internal exons from the POM121 gene and four 3' exons from the ZP3 gene. The 5' end of this gene is similar to the 5` coding region of the POM121 gene which encodes an integral nuclear pore membrane protein. However, the protein encoded by this gene lacks the nuclear pore localization motif. The 3' end of this gene is similar to the last 4 exons of the zona pellucida glycoprotein 3 (ZP3) gene and the encoded protein retains one zona pellucida domain. Multiple protein isoforms are encoded by transcript variants of 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "F6STJ3;Q12903;Q9BWB4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q6PJE2-4", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6T4P5-1", "uniprot_id": [ { "id": "PLPR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6T4P5", "type": "external" } ], "mass": 76037.0, "length": 718, "protein_name": "Phospholipid phosphatase-related protein type 3", "gene_name": "PLPPR3", "organism": "Human", "refseq_name": "phospholipid phosphatase-related protein type 3 isoform 2", "refseq_ac": [ { "id": "NP_001257295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257295", "type": "external" } ], "gene_names_uniprotkb": "PLPPR3; LPPR3; PHP2; PRG2", "gene_names_refseq": "LPPR3; LPR3; PLPPR3; PRG-2; PRG2", "protein_names_uniprotkb": "Phospholipid phosphatase-related protein type 3; Inactive phospholipid phosphatase PLPPR3; Lipid phosphate phosphatase-related protein type 3; PAP-2-like protein 2; PRG-2; Plasticity-related gene 2 protein", "protein_names_refseq": "PAP-2-like protein 2; inactive phospholipid phosphatase PLPPR3; lipid phosphate phosphatase-related protein type 3; phospholipid phosphatase-related protein type 3 isoform 2; phospholipid phosphatase-related protein type 3; plasticity-related gene 2 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79948); (R-HSA-419408)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10488065;10488122;10617617;10727522;10753843;10799507;11230166;11237011;12427546;12730698;19366702;20061941;2160972;23388400;24715725;24900670;26990079;26992070;27600516;28834231;29393594;29557506;29735753;31844290;32350084;32387766;32897882;33141586;33392160;33592498;34509645;35251023;39894887;8626678;8878560;9070858;9525886;9804623", "class_list": "", "function": "The proteins in the lipid phosphate phosphatase (LPP) family, including PRG2, are integral membrane proteins that modulate bioactive lipid phosphates including phosphatidate, lysophosphatidate, and sphingosine-1-phosphate in the context of cell migration, neurite retraction, and mitogenesis (Brauer et al., 2003 [PubMed 12730698]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q86XQ4;Q96EH1;Q9BQF9;Q9HAJ4", "ec_number_list": [], "go_molecular_function": "GO:0008195 phosphatidate phosphatase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0006644 phospholipid metabolic process;GO:0046839 phospholipid dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q6T4P5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UXB8-1", "uniprot_id": [ { "id": "PI16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UXB8", "type": "external" } ], "mass": 49471.0, "length": 463, "protein_name": "Peptidase inhibitor 16", "gene_name": "PI16", "organism": "Human", "refseq_name": "peptidase inhibitor 16 precursor", "refseq_ac": [ { "id": "NP_001186088", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186088", "type": "external" } ], "gene_names_uniprotkb": "PI16; CRISP9; PRO328; PSEC0164; PSPBP", "gene_names_refseq": "CD364; CRISP9; MSMBBP; PI16; PSPBP", "protein_names_uniprotkb": "Peptidase inhibitor 16; CRISP-9; Cysteine-rich secretory protein 9; PI-16; PSP94-binding protein", "protein_names_refseq": "PSP94-binding protein; cysteine-rich secretory protein 9; microseminoprotein, beta-binding protein; peptidase inhibitor 16 precursor; protease inhibitor 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:221476)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "10.1021/acs.analchem.6b02887;10.1038/emboj.2013.79;12975309;15344909;16303743;17062675;22171320;22533972;23090970;23584533;28035807;29314611;29493099;30429286;30459171;31127857;31611695;32350084;33091337;35051231;35251023;35705054;38147957;38353288;40307207", "class_list": "", "function": "A new blood protein PSP94-binding protein (PSPBP) is identified that binds prostate secretory protein of 94 amino acids (PSP94)., [RefSeq, PubMed]; A novel and independent prognostic markers following radical prostatectomy for prostate cancer., [RefSeq, PubMed]; May inhibit cardiomyocyte growth., [UniProtKB, UniProtKB]; PI16-positive Treg showed enhanced in vitro migration towards the inflammatory chemokines CCL17 and CCL20, suggesting they can migrate to sites of inflammation, [RefSeq, PubMed]; Peptidase inhibitor 16 promotes inflammatory arthritis by suppressing Foxp3 expression via regulating K48-linked ubiquitin degradation Bmi-1 in regulatory T cells., [RefSeq, PubMed]; Peptidase inhibitor 16 promotes proliferation of pancreatic ductal adenocarcinoma cells through OASL signaling., [RefSeq, PubMed]; This study shows that Peptidase inhibitor 16 identifies a human regulatory T-cell subset with reduced FOXP3 expression over the first year of recent onset type 1 diabetes, [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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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": 2, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 22, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZVG9;Q8IYL8;Q8NBK0;Q8TCB8", "ec_number_list": [], "go_molecular_function": "GO:0030414 peptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q6UXB8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z2D5-1", "uniprot_id": [ { "id": "PLPR4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z2D5", "type": "external" } ], "mass": 82983.0, "length": 763, "protein_name": "Phospholipid phosphatase-related protein type 4", "gene_name": "PLPPR4", "organism": "Human", "refseq_name": "phospholipid phosphatase-related protein type 4 isoform 2", "refseq_ac": [ { "id": "NP_001159724", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159724", "type": "external" } ], "gene_names_uniprotkb": "PLPPR4; KIAA0455; LPPR4; PHP1; PRG1", "gene_names_refseq": "LPPR4; LPR4; PHP1; PLPPR4; PRG-1; PRG1", "protein_names_uniprotkb": "Phospholipid phosphatase-related protein type 4; Brain-specific phosphatidic acid phosphatase-like protein 1; Inactive 2-lysophosphatidate phosphatase PLPPR4; Lipid phosphate phosphatase-related protein type 4; PRG-1; Plasticity-related gene 1 protein", "protein_names_refseq": "2-lysophosphatidate phosphatase PLPPR4; brain-specific phosphatidic acid phosphatase-like protein 1; inactive 2-lysophosphatidate phosphatase PLPPR4; lipid phosphate phosphatase-related protein type 4; phospholipid phosphatase-related protein type 4 isoform 2; phospholipid phosphatase-related protein type 4; plasticity related gene 1; plasticity-related gene 1 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9890); (R-HSA-419408)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10488065;10488122;10617617;10727522;10753843;10799507;11237011;12427546;12730698;15280885;19366702;20061941;2160972;23388400;23481700;24900670;25576301;26671989;26990079;29393594;29557506;29735753;29786170;31154438;31844290;32157095;32897882;33392160;34509645;35051231;35580925;36010968;36215666;36977636;37217939;37550884;37938771;8626678;8878560;9070858;9525886;9804623", "class_list": "", "function": "Glycosylation as a critical mechanism for PRG-1 function was significantly reduced by the PRG-1R346T SNP glycosylation as a critical mechanism, [RefSeq, PubMed]; PLPPR4 haploinsufficiency causes neurodevelopmental disorders by disrupting synaptic plasticity via mTOR signalling., [RefSeq, PubMed]; Postsynaptic density membrane protein that indirectly regulates glutamatergic synaptic transmission through lysophosphatidic acid (LPA)-mediated signaling pathways. Binds lysophosphatidic acid (LPA) and mediates its internalization into cells. Could act as receptor or a transporter of this lipid at the post-synaptic membrane (By similarity). Modulates lysophosphatidic acid (LPA) activity in neuron axonal outgrowth during development by attenuating phospholipid-induced axon collapse (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene belongs to the lipid phosphate phosphatase (LPP) family. LPPs catalyze the dephosphorylation of a number of bioactive lipid mediators that regulate a variety of cell functions. This protein is specifically expressed in neurons. It is located in the membranes of outgrowing axons and has been shown to be important for axonal outgrowth during development and regenerative sprouting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 9, "predicted_n_glycosites": 9, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 39, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "E7EPS1;O75043;Q5T9R9;Q86XQ5;Q8N3F1;Q96MP0", "ec_number_list": [], "go_molecular_function": "GO:0008195 phosphatidate phosphatase activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0098839 postsynaptic density membrane;GO:0098685 Schaffer collateral - CA1 synapse", "go_biological_process": "GO:0007165 signal transduction;GO:0007186 G protein-coupled receptor signaling pathway;GO:0007409 axonogenesis;GO:0006644 phospholipid metabolic process;GO:0051966 regulation of synaptic transmission, glutamatergic", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q7Z2D5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86V86-1", "uniprot_id": [ { "id": "PIM3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86V86", "type": "external" } ], "mass": 35891.0, "length": 326, "protein_name": "Serine/threonine-protein kinase pim-3", "gene_name": "PIM3", "organism": "Human", "refseq_name": "serine/threonine-protein kinase pim-3", "refseq_ac": [ { "id": "NP_001001852", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001852", "type": "external" } ], "gene_names_uniprotkb": "PIM3", "gene_names_refseq": "PIM3; pim-3", "protein_names_uniprotkb": "Serine/threonine-protein kinase pim-3; 2.7.11.1", "protein_names_refseq": "pim-3 oncogene; serine/threonine kinase Pim-3; serine/threonine-protein kinase pim-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:415116)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "12473674;12798037;15540201;16141072;16818649;17270021;17876606;18593906;23481700;24715725;25880248;26154972;26992070;27846572;27920218;28063628;28218747;28228285;28832583;28904123;29242379;29393594;29437277;29485866;29493099;29557506;29632046;29632711;29786170;30315122;30429286;30484775;30524438;30833945;31092671;31154438;31217245;31530632;31844290;31998317;32157095;32161166;32387766;32502341;32504181;32707033;32800554;32897882;32938616;32983136;33141586;33298915;33691108;33864024;33928496;33936100;33968037;33981976;34087483;34171305;34211107;34433824;34509645;34932366;35051231;35580925;36010968;36215666;36241641;36284347", "class_list": "", "function": "Aberrnntly expressed Pim-3 can cause autonomous cell proliferation or prevent apoptosis in hepatoma cell lines., [RefSeq, PubMed]; CRISPR/Cas9-mediated knockout of PIM3 suppresses tumorigenesis and cancer cell stemness in human hepatoblastoma cells., [RefSeq, PubMed]; Effects of PIM3 in prognosis of colon cancer., [RefSeq, PubMed]; High Expression of NEK2 and PIM1, but Not PIM3, Is Linked to an Aggressive Phenotype of Bronchopulmonary Neuroendocrine Neoplasms., [RefSeq, PubMed]; Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases., [RefSeq, PubMed]; PIM 3 kinase, a proto-oncogene product, regulates phosphorylation of the measles virus nucleoprotein tail domain at Ser 479 and Ser 510., [RefSeq, PubMed]; Proto-oncogene with serine/threonine kinase activity that can prevent apoptosis, promote cell survival and protein translation. May contribute to tumorigenesis through: the delivery of survival signaling through phosphorylation of BAD which induces release of the anti-apoptotic protein Bcl-X(L), the regulation of cell cycle progression, protein synthesis and by regulation of MYC transcriptional activity. Additionally to this role on tumorigenesis, can also negatively regulate insulin secretion by inhibiting the activation of MAPK1/3 (ERK1/2), through SOCS6. Involved also in the control of energy metabolism and regulation of AMPK activity in modulating MYC and PPARGC1A protein levels and cell growth., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is overexpressed in hematological and epithelial tumors and is associated with MYC coexpression. It plays a role in the regulation of signal transduction cascades, contributing to both cell proliferation and survival, and provides a selective advantage in tumorigenesis. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A5D8X8;A8K7J0;B1B0P0;Q68BM2", "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:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0043066 negative regulation of apoptotic process;GO:0006915 apoptotic process;GO:1904322 cellular response to forskolin;GO:0007346 regulation of mitotic cell cycle;GO:0061179 negative regulation of insulin secretion involved in cellular response to glucose stimulus", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q86V86-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YW0-1", "uniprot_id": [ { "id": "PLCZ1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YW0", "type": "external" } ], "mass": 70411.0, "length": 608, "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1", "gene_name": "PLCZ1", "organism": "Human", "refseq_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform 3", "refseq_ac": [ { "id": "NP_001317698", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317698", "type": "external" } ], "gene_names_uniprotkb": "PLCZ1", "gene_names_refseq": "Czeta; NYD-SP27; PLC-zeta-1; PLCZ1; PLCzeta; SPGF17", "protein_names_uniprotkb": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1; 3.1.4.11; PLC-zeta-1; Phosphoinositide phospholipase C-zeta-1; Phospholipase C-zeta-1; Testis-development protein NYD-SP27", "protein_names_refseq": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform 3; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1; PI-phospholipase C zeta 1; phosphoinositide phospholipase C-zeta-1; testicular tissue protein Li 145; testis-development related NYD-SP27", "tax_id": 9606, "disease": "spermatogenic failure 17 (Disease Ontology:DOID:0070174)", "pathway": " (hsa:89869); (R-HSA-1855204)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10593988;10866302;11022047;11022048;11042108;11118617;11237011;11909533;12223481;12416999;12747803;1333955;14697805;15037625;15140260;15316017;15474001;15579586;15702972;15790568;16107206;1644792;1718960;17196844;17933795;19179337;2550068;26721930;2841328;32387766;35051231;36593593;37004249;38279344;38445955;7721860;7761412;7890667;8407970;8454637;8530101;8662638;8723348;8769125;9360711;9430698;9593664", "class_list": "", "function": "Confirm the previously proposed inhibitory role of NYD-SP27 in the PLC pathway and demonstrate that the suppression of its expression could result in an enhancement of ATP-stimulated Ca(2+) dependent pancreatic anion secretion., [RefSeq, PubMed]; Narrow spectrum of PLCZ1 activity indicates that it is modulated by tissue-restricted accessory factors, [RefSeq, PubMed]; Novel PLCZ1 mutation caused polyspermy during in vitro fertilization., [RefSeq, PubMed]; Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure., [RefSeq, PubMed]; Phospholipase C Zeta in Human Spermatozoa: A Systematic Review on Current Development and Clinical Application. Publication Status: Online-Only, [RefSeq, PubMed]; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. In vitro, hydrolyzes PtdIns(4,5)P2 in a Ca(2+)-dependent manner. Triggers intracellular Ca(2+) oscillations in oocytes solely during M phase and is involved in inducing oocyte activation and initiating embryonic development up to the blastocyst stage. Is therefore a strong candidate for the egg-activating soluble sperm factor that is transferred from the sperm into the egg cytoplasm following gamete membrane fusion. May exert an inhibitory effect on phospholipase-C-coupled processes that depend on calcium ions and protein kinase C, including CFTR trafficking and function., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene is a member of the phosphoinositide-specific phospholipase C family. Members in this family, classified into six isotypes that are tissue- and organ-specific, hydrolyze phosphatidylinositol 4,5-bisphosphate just before the phosphate group to yield diacylglycerol and inositol 1,4,5-trisphosphate. This protein localizes to the acrosome in spermatozoa and elicits Ca(2+) oscillations and egg activation during fertilization that leads to early embryonic development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q08AQ7;Q96J70", "ec_number_list": [ { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" } ], "go_molecular_function": "GO:0010314 phosphatidylinositol-5-phosphate binding;GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity;GO:0005546 phosphatidylinositol-4,5-bisphosphate binding;GO:0005509 calcium ion binding;GO:0032266 phosphatidylinositol-3-phosphate binding", "go_cellular_component": "GO:0061827 sperm head;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol", "go_biological_process": "GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0035556 intracellular signal transduction;GO:0016042 lipid catabolic process;GO:0007343 egg activation;GO:0060470 positive regulation of cytosolic calcium ion concentration involved in egg activation", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q86YW0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N2A8-1", "uniprot_id": [ { "id": "PLD6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N2A8", "type": "external" } ], "mass": 28273.0, "length": 252, "protein_name": "Mitochondrial cardiolipin hydrolase", "gene_name": "PLD6", "organism": "Human", "refseq_name": "mitochondrial cardiolipin hydrolase", "refseq_ac": [ { "id": "NP_849158", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_849158", "type": "external" } ], "gene_names_uniprotkb": "PLD6", "gene_names_refseq": "PLD6; ZUC", "protein_names_uniprotkb": "Mitochondrial cardiolipin hydrolase; 3.1.4.-; Choline phosphatase 6; MitoPLD; Mitochondrial phospholipase; PLD6; Phosphatidylcholine-hydrolyzing phospholipase D6; Phospholipase D6; Protein zucchini homolog", "protein_names_refseq": "PLD 6; Zucchini endoribonuclease; choline phosphatase 6; mitoPLD; mitochondrial cardiolipin hydrolase; mitochondrial phospholipase; phosphatidylcholine-hydrolyzing phospholipase D6; protein zucchini homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:201164); (R-HSA-1483148); (R-HSA-1483166); (R-HSA-5601884)", "pathway_count": 4, "publication_count": 98, "publication_id_list": "10455175;10506173;10553003;10681567;11031251;11112443;11788596;11830583;12063250;12161451;12359733;12522102;12963729;14573790;15367102;16460752;16495223;16620771;16704971;16864775;17028579;17170135;17707131;18238778;18718904;18922463;19336658;19666841;20705608;21173190;21397847;21397848;21465557;21641550;22233380;22281006;22777291;22922100;23056369;23176821;23176823;23481700;23807634;23826142;23980886;24599962;24656595;24715725;24966474;25418920;25576301;26154972;26678338;26711011;26992070;27846572;28063496;28852571;28904123;29242379;2925608;31154438;31217245;31844290;31937595;31998317;32157095;32387766;32502341;32938616;33141586;33298915;33912179;34171305;34211107;34326815;34561969;3458202;35289036;36010968;3718705;37584589;38843396;7060561;7821823;8163052;8186247;8300559;8380172;8530346;8687421;9140189;9188469;9212163;9407135;9461603;9582313;9761774", "class_list": "", "function": "Data suggest that mitochondrial-surface phosphatidic acid generated by MitoPLD/Zuc recruits or activates nuage components critical for piRNA production., [RefSeq, PubMed]; Decreased piRNAs in Infertile Semen Are Related to Downregulation of Sperm MitoPLD Expression. Publication Status: Online-Only, [RefSeq, PubMed]; MitoPLD performs a critical function in a pathway that creates a specialized form of RNAi required by developing spermatocytes to suppress transposon mobilization during meiosis. Review article, [RefSeq, PubMed]; NME3 binds to phosphatidic acid and mediates PLD6-induced mitochondrial tethering., [RefSeq, PubMed]; PLD6, aka MitoPLD, encodes an N-terminal mitochondrial localization sequence, localizes to the outer mitochondrial surface, generates phosphatidic acid, a signaling lipid, and triggers trans-mitochondrial association; involved in mitochondrial fusion., [RefSeq, PubMed]; Presents phospholipase and nuclease activities, depending on the different physiological conditions (PubMed:17028579, PubMed:21397847, PubMed:28063496). Interaction with Mitoguardin (MIGA1 or MIGA2) affects the dimer conformation, facilitating the lipase activity over the nuclease activity (PubMed:26711011). Plays a key role in mitochondrial fusion and fission via its phospholipase activity (PubMed:17028579, PubMed:24599962, PubMed:26678338). In its phospholipase role, it uses the mitochondrial lipid cardiolipin as substrate to generate phosphatidate (PA or 1,2-diacyl-sn-glycero-3-phosphate), a second messenger signaling lipid (PubMed:17028579, PubMed:26711011). Production of PA facilitates Mitofusin-mediated fusion, whereas the cleavage of PA by the Lipin family of phosphatases produces diacylgycerol (DAG) which promotes mitochondrial fission (PubMed:24599962). Both Lipin and DAG regulate mitochondrial dynamics and membrane fusion/fission, important processes for adapting mitochondrial metabolism to changes in cell physiology. Mitochondrial fusion enables cells to cope with the increased nucleotide demand during DNA synthesis (PubMed:26678338). Mitochondrial function and dynamics are closely associated with biological processes such as cell growth, proliferation, and differentiation (PubMed:21397848). Mediator of MYC activity, promotes mitochondrial fusion and activates AMPK which in turn inhibits YAP/TAZ, thereby inducing cell growth and proliferation (PubMed:26678338). The endonuclease activity plays a critical role in PIWI-interacting RNA (piRNA) biogenesis during spermatogenesis (PubMed:21397847, PubMed:21397848). Implicated in spermatogenesis and sperm fertility in testicular germ cells, its single strand-specific nuclease activity is critical for the biogenesis/maturation of PIWI-interacting RNA (piRNA). MOV10L1 selectively binds to piRNA precursors and funnels them to the endonuclease that catalyzes the first cleavage step of piRNA processing to generate piRNA intermediate fragments that are subsequently loaded to Piwi proteins. Cleaves either DNA or RNA substrates with similar affinity, producing a 5' phosphate end, in this way it participates in the processing of primary piRNA transcripts. piRNAs provide essential protection against the activity of mobile genetic elements. piRNA-mediated transposon silencing is thus critical for maintaining genome stability, in particular in germline cells when transposons are mobilized as a consequence of wide-spread genomic demethylation (By similarity). PA may act as signaling molecule in the recognition/transport of the precursor RNAs of primary piRNAs (PubMed:21397847). Interacts with tesmin in testes, suggesting a role in spermatogenesis via association with its interacting partner (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Propose that MIGA proteins promote mitochondrial fusion by regulating mitochondrial phospholipid metabolism via MitoPLD., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "Q8N5Y1", "ec_number_list": [ { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "3.1.16.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.16.1", "type": "external" }, { "id": "3.1.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.-", "type": "external" } ], "go_molecular_function": "GO:0035755 cardiolipin hydrolase activity;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0016891 RNA endonuclease activity producing 5'-phosphomonoesters, hydrolytic mechanism", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005794 Golgi apparatus", "go_biological_process": "GO:0010636 positive regulation of mitochondrial fusion;GO:0030719 P granule organization;GO:0016042 lipid catabolic process;GO:0007286 spermatid development;GO:0008053 mitochondrial fusion", "synthesized_glycan_count": 0, "hit_score": 10.1, "record_id": "Q8N2A8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7G0-1", "uniprot_id": [ { "id": "PO5F2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7G0", "type": "external" } ], "mass": 36051.0, "length": 328, "protein_name": "POU domain, class 5, transcription factor 2", "gene_name": "POU5F2", "organism": "Human", "refseq_name": "POU domain, class 5, transcription factor 2", "refseq_ac": [ { "id": "NP_694948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694948", "type": "external" } ], "gene_names_uniprotkb": "POU5F2; SPRM1", "gene_names_refseq": "POU5F2; SPRM-1", "protein_names_uniprotkb": "POU domain, class 5, transcription factor 2; SPRM-1; Sperm 1 POU domain transcription factor", "protein_names_refseq": "POU domain, class 5, transcription factor 2; sperm 1 POU domain transcription factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:134187)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "35051231;36270072;7908264", "class_list": "", "function": "SRRM1 promotes the proliferation, migration, and invasion of hepatocellular carcinoma cells by regulating the JAK/STAT signaling pathway., [RefSeq, PubMed]; Transcription factor that binds preferentially to the octamer motif (5'-ATGTTAAT-3'). May exert a regulatory function in meiotic events that are required for terminal differentiation of male germ cell (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": 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": "Q15169;Q6MZL7;Q8N748", "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_cellular_component": "GO:0005634 nucleus;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8N7G0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TBX8-1", "uniprot_id": [ { "id": "PI42C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TBX8", "type": "external" } ], "mass": 47300.0, "length": 421, "protein_name": "Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma", "gene_name": "PIP4K2C", "organism": "Human", "refseq_name": "phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform a", "refseq_ac": [ { "id": "NP_001139730", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139730", "type": "external" } ], "gene_names_uniprotkb": "PIP4K2C; PIP5K2C", "gene_names_refseq": "PIP4K2C; PIP5K2C", "protein_names_uniprotkb": "Phosphatidylinositol 5-phosphate 4-kinase type-2 gamma; 2.7.1.149; PI(5)P 4-kinase type II gamma; PIP4KII-gamma; Phosphatidylinositol 5-phosphate 4-kinase type II gamma", "protein_names_refseq": "PI(5)P 4-kinase type II gamma; PIP4KII-gamma; phosphatidylinositol 4-phosphate 5-kinase; phosphatidylinositol 5-phosphate 4-kinase type II gamma; phosphatidylinositol 5-phosphate 4-kinase type-2 gamma isoform a; phosphatidylinositol-4-phosphate 5-kinase, type II, gamma", "tax_id": 9606, "disease": "", "pathway": " (hsa:79837); (R-HSA-1660499); (R-HSA-6811555); (R-HSA-6811558); (R-HSA-8847453)", "pathway_count": 5, "publication_count": 140, "publication_id_list": "10194451;10224048;10555148;10559940;10593988;10698683;10753883;10805725;10822173;11001876;11084340;11237011;11279162;11302699;11349134;11604140;11676921;11733541;11877430;11923287;12101241;12118066;12324459;12422219;12536145;12646134;12808147;12847086;12859901;1325671;14516276;14617813;14660569;15080793;15107860;15135396;15464023;15716355;15797027;15840652;16024799;16154996;16399794;16456541;16476736;16522682;16914545;16949365;16979564;17008356;17200115;17245604;17651088;17940011;18093523;18691976;18753295;18794853;19038970;19576174;19896968;20068231;20534812;20583997;21204784;22037487;22647598;23193159;23301498;23481700;23519112;23758345;24714562;24715725;25418920;25495341;25576301;25892735;26728094;26774281;28218747;28228285;28832583;28904123;29242379;29393594;29508533;29557506;29769354;29786170;30429286;30779550;30833945;31091439;31109595;31844290;32157095;32374916;32387766;32502341;32897882;32938616;32983136;33298915;33717175;33936100;33968037;33981976;34087483;34171305;34211107;34509645;35051231;35318648;35494241;35580925;36010968;36284347;37217939;38286827;7608176;7624799;8681945;8723348;8769125;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "C24-Ceramide Drives Gallbladder Cancer Progression Through Directly Targeting Phosphatidylinositol 5-Phosphate 4-Kinase Type-2 Gamma to Facilitate Mammalian Target of Rapamycin Signaling Activation., [RefSeq, PubMed]; Loss of Pip4k2c confers liver-metastatic organotropism through insulin-dependent PI3K-AKT pathway activation., [RefSeq, PubMed]; Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Phosphatidylinositol 5-phosphate 4-kinase with low enzymatic activity. May be a GTP sensor, has higher GTP-dependent kinase activity than ATP-dependent kinase activity. PIP4Ks negatively regulate insulin signaling through a catalytic-independent mechanism. They interact with PIP5Ks and suppress PIP5K-mediated PtdIns(4,5)P2 synthesis and insulin-dependent conversion to PtdIns(3,4,5)P3 (PubMed:31091439)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Study provides additional evidence of the involvement of members of the PIP4K2 family, in particular PIP4K2A and PIP4K2C, in AML, [RefSeq, PubMed]; The loss of PIP4Ks (PIP4K2A, PIP4K2B, and PIP4K2C) in vitro results in a paradoxical increase in PI(4,5)P2 and a concomitant increase in insulin-stimulated production of PI(3,4,5)P3., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2RDL3;B4DM11;B4DY44;Q9H6N2", "ec_number_list": [ { "id": "2.7.1.149", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.149", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "type": "external" } ], "go_molecular_function": "GO:0016309 1-phosphatidylinositol-5-phosphate 4-kinase activity;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0016308 1-phosphatidylinositol-4-phosphate 5-kinase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005776 autophagosome", "go_biological_process": "GO:0046627 negative regulation of insulin receptor signaling pathway;GO:0010506 regulation of autophagy;GO:2000786 positive regulation of autophagosome assembly;GO:0046854 phosphatidylinositol phosphate biosynthetic process;GO:1902635 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 14.3, "record_id": "Q8TBX8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TEM1-1", "uniprot_id": [ { "id": "PO210_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TEM1", "type": "external" } ], "mass": 205111.0, "length": 1887, "protein_name": "Nuclear pore membrane glycoprotein 210", "gene_name": "NUP210", "organism": "Human", "refseq_name": "nuclear pore membrane glycoprotein 210 precursor", "refseq_ac": [ { "id": "NP_079199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079199", "type": "external" } ], "gene_names_uniprotkb": "NUP210; KIAA0906; PSEC0245", "gene_names_refseq": "GP210; NUP210; POM210", "protein_names_uniprotkb": "Nuclear pore membrane glycoprotein 210; Nuclear envelope pore membrane protein POM 210; Nuclear pore protein gp210; Nucleoporin Nup210; POM210; Pore membrane protein of 210 kDa", "protein_names_refseq": "nuclear envelope pore membrane protein POM 210; nuclear pore membrane glycoprotein 210 precursor; nuclear pore membrane glycoprotein 210; nuclear pore protein gp210; nucleoporin 210kDa; nucleoporin Nup210; pore membrane protein of 210 kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:23225); (R-HSA-1169408); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-6784531); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9705671)", "pathway_count": 31, "publication_count": 516, "publication_id_list": "10.1101/2023.09.13.557529;10205180;10228171;10323864;10444065;10489353;10526235;10531003;10556282;10574707;10601273;10601333;10668806;10725331;10759568;10827188;10846107;10851237;10862613;10920397;10954706;11014198;11073998;11095724;11112487;11118210;11124902;11157743;11231581;11237011;11256625;11259411;11259602;11289803;11333016;11451485;11455963;11502751;11514627;11579093;11709553;11714716;11727826;11739738;11747420;11748230;11756420;11788588;11792325;11836381;11871657;11875071;11889051;11909533;11932251;11960997;12003494;12019269;12027805;12032081;12065586;12072510;12093754;12095920;12121577;12138183;12149243;12196509;12228227;12393906;12441251;12525615;12526808;12582176;12589057;12692549;12711671;12729736;12747803;12759408;12776181;12802065;12832072;12853476;12857923;12917326;12974469;14516784;14517331;14578449;14627435;14701874;15082759;15104674;15109492;15120988;15131269;15161980;15175327;15199155;15208624;1531330;15317868;15355988;15364926;15378033;15485925;15574331;15592428;15608651;15702989;15731250;15802566;15823533;15829507;15831457;1586970;15931174;15940266;15959518;15989970;16009940;16030353;16112642;16122702;16139798;16140760;16194093;16278218;16303743;16314397;16352599;16361254;16407192;16428300;16478998;16565220;16608850;16608852;16626738;16688858;16699525;16710424;16715065;16775314;16810316;16815975;16872604;16914094;16933365;17000901;17018294;17081640;17081983;17132145;17183683;17204286;17224653;17289916;17308301;17317185;17376915;17412958;17488105;1754405;17690096;17693435;17698605;17705785;18203656;18226598;18235501;18235502;18287095;18305167;18364396;18381449;18394993;18408014;18411249;18423201;18452278;18535146;18550409;18583345;18625722;18628979;18669648;18691969;18708356;18767875;18809514;18946085;18984158;18991276;19073728;19125153;19159218;19229036;19270716;19287951;19415658;1944575;19494120;19596686;19622798;19640981;19651622;19664994;19682613;19690332;19691289;19706679;19779455;1985200;19914676;19956565;20016594;20016603;20068231;20098713;20129943;20133869;2017161;2017166;20190268;20219937;20300531;20308324;20351170;20385878;20417598;20630994;20663916;20705237;20797632;20797634;20953181;20972456;21098080;21147198;21167178;21284855;21311021;21335236;21406692;21450806;21550342;21554500;21559454;21593607;21647297;21690215;2195063;22121020;22174689;22402492;22457066;22464730;22465953;22493095;22508508;22541429;22635276;22645359;22661230;22732409;22735644;22751501;22825850;22893130;22940245;22941947;22944664;23090970;23092970;23186163;23299939;23349863;23481700;23555621;23582887;23750026;23804756;23826332;23871147;24002598;24027577;24068740;24190977;24275569;24352655;24366607;24369422;24397554;2470644;24714562;24715725;24782567;24870230;25114211;25218447;25391492;25418920;25469497;25502872;25576301;25640237;25645385;25704882;25723178;25810538;25849199;25880248;25892735;26154972;26375851;26572645;26728094;26758079;26768311;26811146;26929215;26992070;27068747;27110896;27501258;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28415052;28467828;28514659;28649982;28832583;28834231;28860189;28904123;29242379;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29741879;29769354;29786170;29789417;29930882;30192525;30315122;30355688;30360396;30379171;30410026;30429286;30484775;30524438;30761409;31020640;31217245;31844290;31850239;32119511;32157095;32265295;32350084;32353859;32357974;32387766;32428392;32488085;32502341;32589897;32726803;32728199;32897882;32938616;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33123756;33141586;33214551;33239431;33298915;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33479219;33495715;33514628;33537174;33567255;33592498;33633747;33691108;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33936100;33963333;33968037;33981976;33989516;33990585;34019948;34021074;34054808;34084167;34087483;34110168;34166398;34171305;34185709;34239064;34290717;34341353;34357683;34375313;34400613;34433824;34439781;34452305;34471099;34502139;34509645;34561969;34597346;34725712;34903738;34932366;35051231;35083852;35102342;35138101;35154160;35159127;35251023;35289036;35318648;35413221;35561310;35580925;35643212;35705054;36010968;36215666;36241641;36284347;36581221;37051252;37074911;37340703;39534244;40307207;40596516;6261960;6930639;7559393;7585962;7759547;7769657;7828588;7878053;7958838;8113738;8196654;8313914;8672508;8721986;8805303;8946918;9092824;9305631;9405152;9412458;9436978;9452416;9512417;9525617;9582382;9618489;9651582;9660920;9660949;9755184;9756909;9837918;9845364;9873016;9885291;9920933", "class_list": "", "function": "Bioinformatics analysis of the expression and clinical significance of the NUP210 Gene in acute myeloid leukaemia., [RefSeq, PubMed]; Discovery of a Novel Aminocyclopropenone Compound That Inhibits BRD4-Driven Nucleoporin NUP210 Expression and Attenuates Colorectal Cancer Growth. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear pore protein NUP210 depletion suppresses metastasis through heterochromatin-mediated disruption of tumor cell mechanical response. Publication Status: Online-Only, [RefSeq, PubMed]; Nucleoporin 210 Serves a Key Scaffold for SMARCB1 in Liver Cancer., [RefSeq, PubMed]; Nucleoporin essential for nuclear pore assembly and fusion, nuclear pore spacing, as well as structural integrity., [UniProtKB, PubMed]; The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a membrane-spanning glycoprotein that is a major component of the nuclear pore complex. Multiple pseudogenes related to this gene are located on chromosome 3. [provided by RefSeq, Jul 2013]., [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": 11, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 10, "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": 1, "reported_phosphosites": 18, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 66, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 23, "disease_count": 0, "glyco_site_count": 20, "binding_glycan_count": 0, "secondary_ac_list": "A6NN56;O94980;Q6NXG6;Q8NBJ1;Q9H6C8;Q9UFP3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005643 nuclear pore;GO:0016020 membrane;GO:0031965 nuclear membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006913 nucleocytoplasmic transport;GO:0015031 protein transport;GO:0051028 mRNA transport", "synthesized_glycan_count": 0, "hit_score": 55.7, "record_id": "Q8TEM1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TF01-1", "uniprot_id": [ { "id": "PNISR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TF01", "type": "external" } ], "mass": 92577.0, "length": 805, "protein_name": "Arginine/serine-rich protein PNISR", "gene_name": "PNISR", "organism": "Human", "refseq_name": "arginine/serine-rich protein PNISR isoform a", "refseq_ac": [ { "id": "NP_001309334", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309334", "type": "external" } ], "gene_names_uniprotkb": "PNISR; C6orf111; HSPC261; HSPC306; SFRS18; SRRP130", "gene_names_refseq": "C6orf111; HSPC306; PNISR; SFRS18; SRrp130; bA98I9.2", "protein_names_uniprotkb": "Arginine/serine-rich protein PNISR; PNN-interacting serine/arginine-rich protein; SR-related protein; SR-rich protein; SRrp130; Serine/arginine-rich-splicing regulatory protein 130; Splicing factor, arginine/serine-rich 130; Splicing factor, arginine/serine-rich 18", "protein_names_refseq": "PNN-interacting serine/arginine-rich protein; SR-related protein; SR-rich protein; arginine/serine-rich protein PNISR isoform a; arginine/serine-rich protein PNISR; serine-arginine-rich-splicing regulatory protein 130; splicing factor, arginine/serine-rich 130; splicing factor, arginine/serine-rich 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:25957)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;14578391;15302935;17081983;17322306;17525332;18452278;18669648;18767875;19413330;19651622;20068231;21406692;23186163;25218447;25418920;27846572;28063628;28589370;28904123;29437277;29493099;29512856;29632046;30379171;30429286;30484775;31844290;32157095;32387766;33141586;33592498;33968037;34185709;35051231;35580925;36010968", "class_list": "", "function": "In our present RNA-Seq experiment, we demonstrated that the LUC7L3 and SFRS18 splicing factors contribute to the regulation of several well-known psoriasis-associated pathways, including the IFN signalling pathway, antiviral immunity and ubiquitination., [RefSeq, PubMed]; Results indicate that LUC7L3, PPIG, and SFRS18 are not only implicated in EDA+ fibronectin formation, but also that they could possess multiple roles in psoriasis-associated molecular abnormalities. Erratum:[Mol Cell Biochem. 2017 Dec;436(1-2):201. doi: 10.1007/s11010-017-3105-y. PMID: 28770468], [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": 30, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K540;E1P5D2;Q5T064;Q5T065;Q6P2B4;Q6P2N4;Q6PJ93;Q6PK36;Q7Z640;Q8N2L1;Q8TF00;Q96K10;Q96SI3;Q96SM5;Q9P076;Q9P0C0;Q9Y4N3", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0016607 nuclear speck;GO:0048786 presynaptic active zone", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q8TF01-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92535-1", "uniprot_id": [ { "id": "PIGC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92535", "type": "external" } ], "mass": 33583.0, "length": 297, "protein_name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit C", "gene_name": "PIGC", "organism": "Human", "refseq_name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit C", "refseq_ac": [ { "id": "NP_002633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002633", "type": "external" } ], "gene_names_uniprotkb": "PIGC; GPI2", "gene_names_refseq": "GPI2; GPIBD16; MRT62; PIGC", "protein_names_uniprotkb": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit C; PIG-C; Phosphatidylinositol-glycan biosynthesis class C protein", "protein_names_refseq": "PIG-C; phosphatidylinositol N-acetylglucosaminyltransferase subunit C; phosphatidylinositol-glycan biosynthesis, class C protein", "tax_id": 9606, "disease": "glycosylphosphatidylinositol biosynthesis defect 16 (Disease Ontology:DOID:0081223)", "pathway": " (hsa:5279); (R-HSA-162710)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10069808;10089216;10944123;11226175;14517336;14742432;15623507;15632136;15635094;15720390;16162815;20935629;23481700;23670221;26154972;26992070;27694521;28218747;28228285;29393594;29557506;29632711;30315122;30410026;31154438;31217245;31844290;32157095;32502341;33141586;33298915;33633747;33936100;35580925;36241641;8806613;8861954;8900170;9325057;9463366", "class_list": "glycogene;glycosyltransferase", "function": "Genes within recently identified loci associated with waist-hip ratio (WHR) exhibit fat depot-specific mRNA expression, which correlates with obesity-related traits. Adipose tissue (AT) mRNA expression of 6 genes (TBX15/WARS2, STAB1, PIGC, ZNRF3, GRB14, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2011 Nov;43(11):1164], [RefSeq, PubMed]; PIGC joins the list of genes in which mutations result in defective biosynthesis of GPI anchoring, manifesting by global developmental delay and seizure disorder., [RefSeq, PubMed]; Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI) lipid anchor biosynthesis. The GPI lipid anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. The encoded protein is one subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. Two alternatively spliced transcripts that encode the same protein have been found for this gene. A pseudogene on chromosome 11 has also 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 323, "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": "O14491", "ec_number_list": [], "go_molecular_function": "GO:0003824 catalytic activity", "go_cellular_component": "GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006506 GPI anchor biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q92535-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GM1-1", "uniprot_id": [ { "id": "PLPR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GM1", "type": "external" } ], "mass": 36880.0, "length": 343, "protein_name": "Phospholipid phosphatase-related protein type 2", "gene_name": "PLPPR2", "organism": "Human", "refseq_name": "phospholipid phosphatase-related protein type 2 isoform 2", "refseq_ac": [ { "id": "NP_001164106", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164106", "type": "external" } ], "gene_names_uniprotkb": "PLPPR2; LPPR2; PRG4", "gene_names_refseq": "LPPR2; PLPPR2; PRG4", "protein_names_uniprotkb": "Phospholipid phosphatase-related protein type 2; Inactive phospholipid phosphatase PLPPR2; Lipid phosphate phosphatase-related protein type 2; PRG-4; Plasticity-related gene 4 protein", "protein_names_refseq": "inactive phospholipid phosphatase PLPPR2; lipid phosphate phosphatase-related protein type 2; phospholipid phosphatase-related protein type 2 isoform 2; phospholipid phosphatase-related protein type 2; plasticity related gene 4; plasticity-related gene 4 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:64748); (R-HSA-419408)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10.1101/2023.09.13.557529;10488065;10488122;10617617;10727522;10753843;10799507;11237011;12427546;12730698;14750979;16959974;19366702;20061941;20112406;2160972;23388400;24715725;24900670;26990079;27862975;29393594;29557506;29632046;29735753;31154438;32157095;32387766;32938616;33968037;34171305;35051231;35494241;8626678;8878560;9070858;9525886;9804623", "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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "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": "Q5CZ76;Q8N1U4;Q9H929", "ec_number_list": [], "go_molecular_function": "GO:0008195 phosphatidate phosphatase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0006644 phospholipid metabolic process;GO:0046839 phospholipid dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q96GM1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JA3-1", "uniprot_id": [ { "id": "PKHA8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JA3", "type": "external" } ], "mass": 58261.0, "length": 519, "protein_name": "Pleckstrin homology domain-containing family A member 8", "gene_name": "PLEKHA8", "organism": "Human", "refseq_name": "pleckstrin homology domain-containing family A member 8 isoform 1", "refseq_ac": [ { "id": "NP_001183955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001183955", "type": "external" } ], "gene_names_uniprotkb": "PLEKHA8; FAPP2", "gene_names_refseq": "FAPP2; PLEKHA8", "protein_names_uniprotkb": "Pleckstrin homology domain-containing family A member 8; FAPP-2; PH domain-containing family A member 8; Phosphatidylinositol-four-phosphate adapter protein 2; Phosphoinositol 4-phosphate adapter protein 2; Serologically defined breast cancer antigen NY-BR-86; hFAPP2", "protein_names_refseq": "PH domain-containing family A member 8; phosphatidylinositol 4-phosphate adaptor protein-2; phosphatidylinositol-four-phosphate adapter protein 2; phosphoinositol 4-phosphate adapter protein 2; pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8; pleckstrin homology domain-containing family A member 8 isoform 1; pleckstrin homology domain-containing family A member 8; serologically defined breast cancer antigen NY-BR-86", "tax_id": 9606, "disease": "", "pathway": " (hsa:84725); (R-HSA-1660499); (R-HSA-9845576)", "pathway_count": 3, "publication_count": 113, "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;12747765;12808147;12847086;14516276;14617813;14660569;15080793;15107860;15135396;15329726;15464023;15716355;15797027;15840652;16103222;16154996;16399794;16476736;16522682;16914545;16959974;16979564;17008356;17105344;17116893;17245604;17651088;17687330;17980653;18093523;18317235;18753295;19038970;19896968;19940249;20534812;21204784;22037487;22647598;23290777;23519112;23758345;23791178;23863933;24715725;25495341;26202220;26992070;29769354;30206120;31568712;31844290;32045359;32157095;32339554;32488085;32914361;32938616;33141586;33298915;33389903;33912179;33968037;34171305;34499882;34509645;34796518;36010968;7608176;7624799;8681945;8723348;8769125;9094719;9113989;9211928;9286278;9295334;9367159;9428629;9514948;9516481;9524259;9593664;9660759;9660833;9811831;9830063", "class_list": "", "function": "By coupling the synthesis of glycosphingolipids with their export to the cell surface, FAPP2 emerges as crucial in determining the lipid identity and composition of the plasma membrane, [RefSeq, PubMed]; Data demonstrate FAPP2 is required for cilium formation in polarized MDCK cells., [RefSeq, PubMed]; Data show that FAPP1 and 2 are essential components of a phosphatidylinositol 4-phosphate- and ADP-ribosylation factor-regulated machinery that controls generation of constitutive post-Golgi carriers., [RefSeq, PubMed]; Downregulation of FAPP2 gene induces cell autophagy and inhibits PI3K/AKT/mTOR pathway in T-cell acute lymphoblastic leukemia., [RefSeq, PubMed]; FAPP2 Accelerates the Proliferation and Invasion of Hepatocellular Carcinoma Cells via Wnt/beta-Catenin Signaling., [RefSeq, PubMed]; FAPP2 plays a specific role in apical transport in MDCK cells., [RefSeq, PubMed]; Mediates the non-vesicular transport of glucosylceramide (GlcCer) from the trans-Golgi network (TGN) to the plasma membrane, playing a pivotal role in the synthesis of complex glycosphingolipids; binding of both phosphatidylinositol 4-phosphate (PIP) and ARF1 are essential for this GlcCer transfer ability (PubMed:15107860, PubMed:16103222, PubMed:17687330). Also functions as a cargo transport protein required for apical transport from the Golgi complex, including transport of AQP2 from the TGN to sites of AQP2 phosphorylation. Additionally required for primary cilium formation, possibly by being involved in the transport of raft lipids to the apical membrane, and for membrane tubulation (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; MiR-98 is involved in missed abortion by targeting GDF6 and FAPP2., [RefSeq, PubMed]; Phosphatidylinositol 4-phosphate adaptor protein 2 accelerates the proliferation and invasion of hepatocellular carcinoma cells by enhancing Wnt/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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 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": "B4DH00;Q7Z5V8;Q9BU78;Q9H274;Q9H8Z7", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding;GO:0070273 phosphatidylinositol-4-phosphate binding;GO:0097001 ceramide binding;GO:1902387 ceramide 1-phosphate binding;GO:1902388 ceramide 1-phosphate transfer activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005802 trans-Golgi network", "go_biological_process": "GO:0001576 globoside biosynthetic process;GO:0006869 lipid transport;GO:0015031 protein transport;GO:0006661 phosphatidylinositol biosynthetic process;GO:0035621 ER to Golgi ceramide transport", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q96JA3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZP4-1", "uniprot_id": [ { "id": "PITH1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZP4", "type": "external" } ], "mass": 24178.0, "length": 211, "protein_name": "PITH domain-containing protein 1", "gene_name": "PITHD1", "organism": "Human", "refseq_name": "PITH domain-containing protein 1", "refseq_ac": [ { "id": "NP_065095", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065095", "type": "external" } ], "gene_names_uniprotkb": "PITHD1; AD039; C1orf128; HT014; PP603", "gene_names_refseq": "C1orf128; HT014; PITHD1; TXNL1CL", "protein_names_uniprotkb": "PITH domain-containing protein 1", "protein_names_refseq": "PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1; PITH domain-containing protein 1; TXNL1 C-terminal like", "tax_id": 9606, "disease": "", "pathway": " (hsa:57095)", "pathway_count": 1, "publication_count": 68, "publication_id_list": "10.1038/emboj.2013.79;10931946;11237011;15498874;15592455;20068231;23301498;23584533;24366607;25134913;25418920;25576301;25645385;25802875;26154972;26375851;26992070;27846572;27920218;28063628;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29786170;29789417;30315122;30410026;31020640;31154438;31217245;31530632;31533654;31611695;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33392160;33592498;33717175;33912179;33968037;33981976;34115363;34185709;34725712;34932366;35051231;35132862;35580925;36284347;38665916", "class_list": "", "function": "An association of lower PITHD1 protein expression and unfavorable overall and disease-specific survival in clear-cell ovarian carcinoma patients Publication Status: Online-Only, [RefSeq, PubMed]; Combination of Antibody Arrays to Functionally Characterize Dark Proteins in Human Olfactory Neuroepithelial Cells., [RefSeq, PubMed]; PITHD1 was a novel activator of IRES and enhanced RUNX1 expression that subsequently promoted megakaryocyte differentiation., [RefSeq, PubMed]; Promotes megakaryocyte differentiation by up-regulating RUNX1 expression (PubMed:25134913). Regulates RUNX1 expression by activating the proximal promoter of the RUNX1 gene and by enhancing the translation activity of an internal ribosome entry site (IRES) element in the RUNX1 gene (PubMed:25134913)., [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": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 7, "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": "B2R7J4;Q5QPN6;Q5QPN7;Q9NRI8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0097598 sperm cytoplasmic droplet;GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0045654 positive regulation of megakaryocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q9GZP4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3S5-1", "uniprot_id": [ { "id": "PIGM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3S5", "type": "external" } ], "mass": 49460.0, "length": 423, "protein_name": "GPI alpha-1,4-mannosyltransferase I, catalytic subunit", "gene_name": "PIGM", "organism": "Human", "refseq_name": "GPI alpha-1,4-mannosyltransferase I, catalytic subunit", "refseq_ac": [ { "id": "NP_660150", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660150", "type": "external" } ], "gene_names_uniprotkb": "PIGM", "gene_names_refseq": "GPI-MT-I; PIGM", "protein_names_uniprotkb": "GPI alpha-1,4-mannosyltransferase I, catalytic subunit; 2.4.1.-; GPI mannosyltransferase I; GPI-MT-I; PIG-M; Phosphatidylinositol-glycan biosynthesis class M protein", "protein_names_refseq": "DPM:GlcN-(acyl-)PI mannosyltransferase; GPI alpha-1,4-mannosyltransferase I, catalytic subunit; GPI mannosyltransferase 1; GPI mannosyltransferase I; PIG-M mannosyltransferase; dol-P-Man dependent GPI mannosyltransferase; phosphatidylinositol-glycan biosynthesis class M protein", "tax_id": 9606, "disease": "hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency (MONDO:MONDO:0012465)", "pathway": " (hsa:93183); (R-HSA-162710)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10069808;10089216;10944123;11226175;14517336;14742432;15623507;15632136;15635094;15720390;16162815;16303743;16767100;18452278;19664994;23329837;24714562;25293775;25645385;26992070;28228285;28514659;28904123;29557506;29764287;29786170;30315122;31217245;31445883;31844290;32157095;32387766;32488085;32938616;33537174;33691108;33912179;34087483;34171305;35051231;36010968;36241641;8861954;8900170;9463366", "class_list": "glycogene;glycosyltransferase", "function": "B cells but not red cells are glycosylphosphatidylinositol deficient in PIGM-associated inherited glycosylphosphatidylinositol deficiency, caused by a core promoter mutation that abrogates Sp1 binding., [RefSeq, PubMed]; Catalytic subunit of the glycosylphosphatidylinositol-mannosyltransferase I complex which catalyzes the transfer of the first mannose, via an alpha-1,4 bond from a dolichol-phosphate-mannose (Dol-P-Man) to a 2-acyl-6-alpha-D-glucosaminyl-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (glucosaminyl acyl phosphatidylinositol, GlcN-(acyl)PI) intermediate to generate 2-acyl-6-(alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl)-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H2) and participates in the sixth step of the glycosylphosphatidylinositol-anchor biosynthesis., [UniProtKB, PubMed]; Function of a membrane-embedded domain evolutionarily multiplied in the GPI lipid anchor pathway proteins PIG-B, PIG-M, PIG-U, PIG-W, PIG-V, and PIG-Z has been described., [RefSeq, PubMed]; Mutation substantially reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol(GPI), leading to partial but severe deficiency of GPI., [RefSeq, PubMed]; Studies indicate that mutations in PGM1 by exome sequencing cause hypoglycemia and liver abnormalities. Review article, [RefSeq, PubMed]; This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [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": 2, "reported_glycation": 0, "reported_snv": 526, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" } ], "go_molecular_function": "GO:0000030 mannosyltransferase activity;GO:0180041 dol-P-Man:GlcN-acyl-PI alpha-1,4-mannosyltransferase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:1990529 glycosylphosphatidylinositol-mannosyltransferase I complex", "go_biological_process": "GO:0006506 GPI anchor biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9H3S5-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4B4-1", "uniprot_id": [ { "id": "PLK3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4B4", "type": "external" } ], "mass": 71629.0, "length": 646, "protein_name": "Serine/threonine-protein kinase PLK3", "gene_name": "PLK3", "organism": "Human", "refseq_name": "serine/threonine-protein kinase PLK3", "refseq_ac": [ { "id": "NP_004064", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004064", "type": "external" } ], "gene_names_uniprotkb": "PLK3; CNK; FNK; PRK", "gene_names_refseq": "CNK; FNK; PLK-3; PLK3; PRK", "protein_names_uniprotkb": "Serine/threonine-protein kinase PLK3; 2.7.11.21; Cytokine-inducible serine/threonine-protein kinase; FGF-inducible kinase; PLK-3; Polo-like kinase 3; Proliferation-related kinase", "protein_names_refseq": "FGF-inducible kinase; cytokine-inducible serine/threonine-protein kinase; proliferation-related kinase; serine/threonine-protein kinase PLK3", "tax_id": 9606, "disease": "ovary epithelial cancer (Disease Ontology:DOID:2152); breast carcinoma (Disease Ontology:DOID:3459)", "pathway": " (hsa:1263); (R-HSA-6804115); (R-HSA-6804756); (R-HSA-69601)", "pathway_count": 4, "publication_count": 145, "publication_id_list": "10435622;10500146;10557092;10570149;10604467;10673500;10673501;10710310;10827953;10884347;11039900;11156373;11239457;11298456;11447225;11511362;11546806;11551930;11740489;11746980;11780126;11814693;11896574;11971976;12064478;12234927;12242661;12393879;12399544;12676583;12676925;12702766;12759351;12851404;12897130;12914926;12963847;14603323;14681206;14702041;14968113;14980500;15021912;15053879;15713436;15866171;16140933;16160013;16322561;16478733;16481012;17108107;17146433;17264206;17349958;17591690;17804415;18062778;18167338;18337750;18413330;18480045;18490454;18650425;19103756;19121998;19276069;19490146;19734889;19965871;20348946;20352051;20473878;20531387;20671765;20889502;20940307;20951827;20959462;21098032;21252624;21264284;21317932;21376736;21840391;22252318;22828320;23000554;23236473;23485397;23676219;24145406;24714562;24874608;25267294;25645385;26154972;26992070;27846572;28218747;28489076;28832583;28855257;29242379;29393594;29437277;29493099;30315122;30379171;30429286;30484775;30779550;31154438;31217245;31222486;31844290;31848261;32157095;32357974;32387766;32502341;32575753;32897882;32938616;32983136;33298915;33592498;33691108;33912179;33981976;34561969;35051231;35580925;36010968;36284347;37217939;37568042;37873730;8702627;8944033;9184226;9353331;9671765;9712883;9925639", "class_list": "", "function": "Have identified and validated as in vitro PLK2 and PLK3 substrates HSP90, GRP-94, beta-tubulin, calumenin, and 14-3-3 epsilon, [RefSeq, PubMed]; PLK3 promotes the proneural-mesenchymal transition in glioblastoma via transcriptional regulation of C5AR1., [RefSeq, PubMed]; Plk3 binds to CtIP phosphorylated at S327 via its Polo box domains, which is necessary for robust damage-induced CtIP phosphorylation at S327 and subsequent CtIP phosphorylation at T847., [RefSeq, PubMed]; Plk3 is a multifunctional protein that associates with multiple complexes and that contributes to response to stress incurred by DNA damage and mitotic spindle disruption, albeit via different pathways., [RefSeq, PubMed]; Results suggest that Plk3 plays an important role in the regulation of microtubule dynamics and centrosomal function in the cell and that deregulated expression of Plk3 results in cell cycle arrest and apoptosis., [RefSeq, PubMed]; Serine/threonine-protein kinase involved in cell cycle regulation, response to stress and Golgi disassembly. Polo-like kinases act by binding and phosphorylating proteins that are already phosphorylated on a specific motif recognized by the POLO box domains. Phosphorylates ATF2, BCL2L1, CDC25A, CDC25C, CHEK2, HIF1A, JUN, p53/TP53, p73/TP73, PTEN, TOP2A and VRK1. Involved in cell cycle regulation: required for entry into S phase and cytokinesis. Phosphorylates BCL2L1, leading to regulate the G2 checkpoint and progression to cytokinesis during mitosis. Plays a key role in response to stress: rapidly activated upon stress stimulation, such as ionizing radiation, reactive oxygen species (ROS), hyperosmotic stress, UV irradiation and hypoxia. Involved in DNA damage response and G1/S transition checkpoint by phosphorylating CDC25A, p53/TP53 and p73/TP73. Phosphorylates p53/TP53 in response to reactive oxygen species (ROS), thereby promoting p53/TP53-mediated apoptosis. Phosphorylates CHEK2 in response to DNA damage, promoting the G2/M transition checkpoint. Phosphorylates the transcription factor p73/TP73 in response to DNA damage, leading to inhibit p73/TP73-mediated transcriptional activation and pro-apoptotic functions. Phosphorylates HIF1A and JUN is response to hypoxia. Phosphorylates ATF2 following hyperosmotic stress in corneal epithelium. Also involved in Golgi disassembly during the cell cycle: part of a MEK1/MAP2K1-dependent pathway that induces Golgi fragmentation during mitosis by mediating phosphorylation of VRK1. May participate in endomitotic cell cycle, a form of mitosis in which both karyokinesis and cytokinesis are interrupted and is a hallmark of megakaryocyte differentiation, via its interaction with CIB1., [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]; TUBA1A licenses APC/C-mediated mitotic progression to drive glioblastoma growth by inhibiting PLK3., [RefSeq, PubMed]; The Plk3-VRK1 kinase module might represent two consecutive steps of a signaling cascade that participates in the regulation of Golgi fragmentation., [RefSeq, PubMed]; The protein encoded by this gene is a member of the highly conserved polo-like kinase family of serine/threonine kinases. Members of this family are characterized by an amino-terminal kinase domain and a carboxy-terminal bipartite polo box domain that functions as a substrate-binding motif and a cellular localization signal. Polo-like kinases are important regulators of cell cycle progression. This gene has also been implicated in stress responses and double-strand break repair. In human cell lines, this protein is reported to associate with centrosomes in a microtubule-dependent manner, and during mitosis, the protein becomes localized to the mitotic apparatus. Expression of a kinase-defective mutant results in abnormal cell morphology caused by changes in microtubule dynamics and mitotic arrest followed by apoptosis. [provided by RefSeq, Sep 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 4, "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": "Q15767;Q5JR99;Q96CV1", "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": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "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:0002039 p53 binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0000922 spindle pole;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0044819 mitotic G1/S transition checkpoint signaling;GO:1904716 positive regulation of chaperone-mediated autophagy;GO:0000122 negative regulation of transcription by RNA polymerase II;GO:0006468 protein phosphorylation;GO:0006970 response to osmotic stress", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "Q9H4B4-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P212-1", "uniprot_id": [ { "id": "PLCE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P212", "type": "external" } ], "mass": 258715.0, "length": 2302, "protein_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1", "gene_name": "PLCE1", "organism": "Human", "refseq_name": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 2", "refseq_ac": [ { "id": "NP_001159451", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159451", "type": "external" } ], "gene_names_uniprotkb": "PLCE1; KIAA1516; PLCE; PPLC", "gene_names_refseq": "NPHS3; PLCE1; PLCE; PPLC", "protein_names_uniprotkb": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1; 3.1.4.11; PLC-epsilon-1; Pancreas-enriched phospholipase C; Phosphoinositide phospholipase C-epsilon-1; Phospholipase C-epsilon-1", "protein_names_refseq": "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 2; 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1; PLC-epsilon-1; pancreas-enriched phospholipase C; phosphoinositide phospholipase C-epsilon-1; phosphoinositide phospholipase C; phosphoinositide-specific phospholipase C epsilon-1", "tax_id": 9606, "disease": "nephrotic syndrome type 2 (Disease Ontology:DOID:0080379); nephrotic syndrome type 3 (Disease Ontology:DOID:0080382); nephrotic syndrome (Disease Ontology:DOID:1184); gastric adenocarcinoma (Disease Ontology:DOID:3717)", "pathway": " (hsa:51196); (R-HSA-1855204)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "10593988;10866302;11022047;11022048;11042108;11118617;11237011;11395506;11715024;11877431;11909533;12223481;12444546;12721365;12747803;1333955;15037625;15140260;15157671;15316017;15474001;15558028;15579586;15702972;15790568;16107206;16293787;1644792;16483931;16537651;17086182;1718960;18566446;19179337;19664994;22865593;23595123;24029068;2550068;25576301;2841328;28657654;29058690;29242379;29393594;29557506;30429286;30833945;31154438;31848261;32157095;32938616;32983136;33392160;33592498;33968037;35051231;35580925;36010968;36241641;36367690;36650688;37018449;37670083;38253038;38451080;7721860;7761412;7890667;8407970;8454637;8530101;8662638;8723348;8769125;9360711;9430698;9593664", "class_list": "", "function": "Association between the Missense Variant of PLCE1 and the Risk of Colorectal Cancer., [RefSeq, PubMed]; Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families., [RefSeq, PubMed]; PLCepsilon promotes the Warburg effect and tumorigenesis through AKT/GSK3beta/Cdc25a in bladder cancer., [RefSeq, PubMed]; Phospholipase C epsilon-1 (PLCE1) mediates macrophage activation and protection against tuberculosis., [RefSeq, PubMed]; Phospholipase Cepsilon insufficiency causes ascending aortic aneurysm and dissection., [RefSeq, PubMed]; The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. PLCE1 is a bifunctional enzyme which also regulates small GTPases of the Ras superfamily through its Ras guanine-exchange factor (RasGEF) activity. As an effector of heterotrimeric and small G-protein, it may play a role in cell survival, cell growth, actin organization and T-cell activation. In podocytes, is involved in the regulation of lamellipodia formation. Acts downstream of AVIL to allow ARP2/3 complex assembly., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[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": 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": 7, "reported_glycation": 0, "reported_snv": 75, "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": "A6NGW0;A6NLA1;A7MBN7;A8K1D7;B9EIJ6;Q1X6H8;Q5VWL4;Q5VWL5;Q9H9X8;Q9HBX6;Q9HC53;Q9UHV3", "ec_number_list": [ { "id": "3.1.4.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.11", "type": "external" } ], "go_molecular_function": "GO:0004435 phosphatidylinositol-4,5-bisphosphate phospholipase C activity;GO:0019899 enzyme binding;GO:0046872 metal ion binding;GO:0004629 phospholipase C activity;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030027 lamellipodium", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0019722 calcium-mediated signaling;GO:0035556 intracellular signal transduction;GO:0016042 lipid catabolic process;GO:0007265 Ras protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q9P212-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKJ0-1", "uniprot_id": [ { "id": "PILRB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKJ0", "type": "external" } ], "mass": 25542.0, "length": 227, "protein_name": "Paired immunoglobulin-like type 2 receptor beta", "gene_name": "PILRB", "organism": "Human", "refseq_name": "paired immunoglobulin-like type 2 receptor beta isoform 2 precursor", "refseq_ac": [ { "id": "NP_839956", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_839956", "type": "external" } ], "gene_names_uniprotkb": "PILRB; FDFACT; PP1551", "gene_names_refseq": "FDFACT1; FDFACT2; PILRB", "protein_names_uniprotkb": "Paired immunoglobulin-like type 2 receptor beta; Activating receptor PILR-beta; Cell surface receptor FDFACT", "protein_names_refseq": "activating receptor PILR-beta; activating receptor PILRbeta; cell surface receptor FDFACT1; cell surface receptor FDFACT2; paired immunoglobin-like receptor beta; paired immunoglobulin-like receptor beta; paired immunoglobulin-like type 2 receptor beta isoform 2 precursor; paired immunoglobulin-like type 2 receptor beta", "tax_id": 9606, "disease": "", "pathway": " (hsa:29990); (R-HSA-198933)", "pathway_count": 2, "publication_count": 88, "publication_id_list": "10499918;10660620;10746781;10903717;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;14719373;14970179;15034010;15136729;15155468;15187158;15304001;15498874;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18209062;18234675;18593354;19149696;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23695528;23929856;24305946;24715725;24843130;25703557;25716998;26284469;26300885;29557506;33043033;33188360;35051231;39227585;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "Characterization of paired counterpart PILRA., [RefSeq, PubMed]; HACS1 signaling adaptor protein recognizes a motif in the paired immunoglobulin receptor B cytoplasmic domain. Publication Status: Online-Only, [RefSeq, PubMed]; PILRB potentiates the PI3K/AKT signaling pathway and reprograms cholesterol metabolism to drive gastric tumorigenesis and metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; PILRbeta differs from PILRalpha in one of the three residues (Y2, R95 and W108) on the surface of PILRalpha (L108), explaining its inability to engage gB., [RefSeq, PubMed]; Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRB is thought to act as a cellular signaling activating receptor that associates with ITAM-bearing adapter molecules on the cell surface., [UniProtKB]; The paired immunoglobin-like type 2 receptors consist of highly related activating and inhibitory receptors that are involved in the regulation of many aspects of the immune system. The paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This gene encodes the activating member of the receptor pair and contains a truncated cytoplasmic tail relative to its inhibitory counterpart (PILRA), that has a long cytoplasmic tail with immunoreceptor tyrosine-based inhibitory (ITIM) motifs. This gene is thought to have arisen from a duplication of the inhibitory PILRA gene and evolved to acquire its activating function. [provided by RefSeq, Jun 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "Q69YF9;Q9HBS0", "ec_number_list": [], "go_molecular_function": "GO:0042288 MHC class I protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0071944 cell periphery", "go_biological_process": "GO:0007169 cell surface receptor protein tyrosine kinase signaling pathway;GO:0007171 activation of transmembrane receptor protein tyrosine kinase activity", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9UKJ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UKJ1-1", "uniprot_id": [ { "id": "PILRA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UKJ1", "type": "external" } ], "mass": 34005.0, "length": 303, "protein_name": "Paired immunoglobulin-like type 2 receptor alpha", "gene_name": "PILRA", "organism": "Human", "refseq_name": "paired immunoglobulin-like type 2 receptor alpha isoform 1 precursor", "refseq_ac": [ { "id": "NP_038467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038467", "type": "external" } ], "gene_names_uniprotkb": "PILRA", "gene_names_refseq": "FDF03; PILRA", "protein_names_uniprotkb": "Paired immunoglobulin-like type 2 receptor alpha; Cell surface receptor FDF03; Inhibitory receptor PILR-alpha", "protein_names_refseq": "cell surface receptor FDF03; inhibitory receptor PILR-alpha; paired immunoglobulin-like type 2 receptor alpha isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:29992); (R-HSA-198933)", "pathway_count": 2, "publication_count": 119, "publication_id_list": "10499918;10660620;10746781;10903717;11237011;11265639;11489943;11513152;11556966;11807247;11857637;11858820;11861603;11955593;11955595;11955599;12213321;12483297;12588680;12853948;14719373;14970179;15034010;15085135;15136729;15155468;15187158;15304001;15489334;15534202;15541655;15580655;15607800;15778510;15781451;15800062;15851719;15864273;16014749;16091383;16129954;16339513;16380601;16551255;16737824;16754721;16893496;16904340;16928187;17045824;17057721;17237375;17337780;18031695;18037897;18055229;18097101;18209062;18234675;18358807;18593354;19149696;19159218;19359216;19592130;20730098;21241660;21800138;21841309;21877119;22396535;23481700;23695528;23929856;24305946;24715725;24843130;24889612;25576301;25703557;25716998;26284469;26300885;26992070;27452731;27862975;28218747;28904123;29046357;29181857;29202958;29437277;29508533;29557506;29786170;30315122;30388101;30410026;30459171;31297637;31844290;32157095;32983136;33298915;34602489;35051231;35580925;35617401;35918447;37074911;38408113;7531291;7542404;8178173;8995416;9285412;9314561;9700512;9730896", "class_list": "", "function": "(Microbial infection) Acts as an entry co-receptor for herpes simplex virus 1., [UniProtKB, PubMed]; Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. [provided by RefSeq, Jul 2008]., [RefSeq]; Inhibitory Fcgamma Receptor and Paired Immunoglobulin Type 2 Receptor Alpha Genotypes in Alzheimer's Disease., [RefSeq, PubMed]; New candidate SNPs for genetic association with Alzheimer's disease: a linkage disequilibrium analysis for the FCGRIIB and PILRA genes. Publication Status: Online-Only, [RefSeq, PubMed]; PILRA polymorphism modifies the effect of APOE4 and GM17 on Alzheimer's disease risk. Publication Status: Online-Only, [RefSeq, PubMed]; PILRalpha protein was successfully crystallized at 293 K using the sitting-drop vapour-diffusion method and the crystals diffracted to 1.3 A resolution., [RefSeq, PubMed]; Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRA is thought to act as a cellular signaling inhibitory receptor by recruiting cytoplasmic phosphatases like PTPN6/SHP-1 and PTPN11/SHP-2 via their SH2 domains that block signal transduction through dephosphorylation of signaling molecules. Receptor for PIANP., [UniProtKB, PubMed, PubMed]; The CD8alpha-PILRalpha interaction maintains CD8(+) T cell quiescence., [RefSeq, PubMed]; The results demonstrate that cellular receptors for both gB and gD are required for HSV-1 infection and that PILRalpha plays an important role in HSV-1 infection as a coreceptor that associates with gB., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q8NHI1", "ec_number_list": [], "go_molecular_function": "GO:0042288 MHC class I protein binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "Q9UKJ1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UL41-1", "uniprot_id": [ { "id": "PNMA3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UL41", "type": "external" } ], "mass": 52376.0, "length": 463, "protein_name": "Paraneoplastic antigen Ma3", "gene_name": "PNMA3", "organism": "Human", "refseq_name": "paraneoplastic antigen Ma3 isoform 2", "refseq_ac": [ { "id": "NP_001269464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269464", "type": "external" } ], "gene_names_uniprotkb": "PNMA3; MA3", "gene_names_refseq": "MA3; MA5; PNMA3", "protein_names_uniprotkb": "Paraneoplastic antigen Ma3", "protein_names_refseq": "paraneoplastic Ma antigen 3; paraneoplastic antigen MA3; paraneoplastic antigen Ma3 isoform 2; paraneoplastic cancer-testis-brain antigen", "tax_id": 9606, "disease": "", "pathway": " (hsa:29944)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11230166;11558790;16214224;16407312;19366867;34171305;35051231", "class_list": "", "function": "Analysis of a ribosomal frameshift signal in the human paraneoplastic Ma3 gene, [RefSeq, PubMed]; The protein encoded by this gene belongs to the paraneoplastic antigen MA (PNMA) family, which shares homology with retroviral Gag proteins. The PNMA antigens are highly expressed in the brain and also in a range of tumors associated with serious neurological phenotypes. PMID:16407312 reports the presence of a functional -1 ribosomal frameshift signal (consisting of a heptanucleotide shift motif followed 3' by a pseudoknot structure) in this gene, however, the frame-shifted product has not been characterized. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "D3DWT7;Q9H0A4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005730 nucleolus", "go_biological_process": "GO:0043065 positive regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q9UL41-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULN7-5", "uniprot_id": [ { "id": "PNM8B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULN7", "type": "external" } ], "mass": 68615.0, "length": 635, "protein_name": "Paraneoplastic antigen-like protein 8B", "gene_name": "PNMA8B", "organism": "Human", "refseq_name": "paraneoplastic antigen-like protein 8B", "refseq_ac": [ { "id": "NP_065760", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065760", "type": "external" } ], "gene_names_uniprotkb": "PNMA8B; KIAA1183; PNMAL2", "gene_names_refseq": "PNMA8B; PNMAL2", "protein_names_uniprotkb": "Paraneoplastic antigen-like protein 8B; PNMA-like protein 2", "protein_names_refseq": "PNMA-like 2; PNMA-like protein 2; paraneoplastic Ma antigen family like 2; paraneoplastic Ma antigen family member 8B; paraneoplastic antigen-like protein 8B", "tax_id": 9606, "disease": "", "pathway": " (hsa:57469)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "23481700;26992070;29557506;31154438;31530632;31844290;31848261;32938616;35051231", "class_list": "", "function": "", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 18, "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": "C9JGD5;M0R374;Q08E79;Q0D2F9;Q6ZVD1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q9ULN7-5", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQG0-1", "uniprot_id": [ { "id": "POK11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQG0", "type": "external" } ], "mass": 109665.0, "length": 969, "protein_name": "Endogenous retrovirus group K member 11 Pol protein", "gene_name": "ERVK-11", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ERVK-11", "gene_names_refseq": "", "protein_names_uniprotkb": "Endogenous retrovirus group K member 11 Pol protein; HERV-K_3q27.2 provirus ancestral Pol protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "9971820", "class_list": "", "function": "Early post-infection, the reverse transcriptase converts the viral RNA genome into double-stranded viral DNA. The RNase H domain of the reverse transcriptase performs two functions. It degrades the RNA template and specifically removes the RNA primer from the RNA/DNA hybrid. Following nuclear import, the integrase catalyzes the insertion of the linear, double-stranded viral DNA into the host cell chromosome. Endogenous Pol proteins may have kept, lost or modified their original function during evolution (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, 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"https://www.rhea-db.org/rhea/?query=ec:3.1.26.4", "type": "external" }, { "id": "3.4.23.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.50", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.7.102", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.102", "type": "external" } ], "go_molecular_function": "GO:0003964 RNA-directed DNA polymerase activity;GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0004523 RNA-DNA hybrid ribonuclease activity;GO:0035613 RNA stem-loop binding", "go_cellular_component": "", "go_biological_process": "GO:0006310 DNA recombination;GO:0006261 DNA-templated DNA replication;GO:0015074 DNA integration;GO:0075523 viral translational frameshifting", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9UQG0-1", "record_type": "protein", "filter_code": "0000000.0000100.010000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { 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"mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:1990756 ubiquitin-like ligase-substrate adaptor activity", 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"url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128131", "type": "external" } ], "gene_names_uniprotkb": "PRR23A", "gene_names_refseq": "PRR23A", "protein_names_uniprotkb": "Proline-rich protein 23A", "protein_names_refseq": "UPF0572 protein ENSP00000372650; proline-rich protein 23A; proline-rich protein 23C", "tax_id": 9606, "disease": "", "pathway": " (hsa:729627)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "33592498", "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, 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"url": "https://www.uniprot.org/uniprot/Q96LQ0", "type": "external" } ], "mass": 49440.0, "length": 422, "protein_name": "Protein phosphatase 1 regulatory subunit 36", "gene_name": "PPP1R36", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 36", "refseq_ac": [ { "id": "NP_758953", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_758953", "type": "external" } ], "gene_names_uniprotkb": "PPP1R36; C14orf50", "gene_names_refseq": "C14orf50; PPP1R36", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 36", "protein_names_refseq": "protein phosphatase 1 regulatory subunit 36", "tax_id": 9606, "disease": "", "pathway": " (hsa:145376)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;17287340;19389623;32938616;34185709;35051231;36010968;37217939", "class_list": "", "function": "Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes., [UniProtKB, PubMed]", "predicted_glycosites": 0, 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"glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6NTH6", "ec_number_list": [], "go_molecular_function": "GO:0004864 protein phosphatase inhibitor activity;GO:0019902 phosphatase binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q96LQ0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14829-1", "uniprot_id": [ { "id": "PPE1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14829", "type": "external" } ], "mass": 75792.0, "length": 653, "protein_name": "Serine/threonine-protein phosphatase with EF-hands 1", "gene_name": "PPEF1", "organism": "Human", "refseq_name": "serine/threonine-protein phosphatase with EF-hands 1 isoform 1", "refseq_ac": [ { "id": "NP_006231", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006231", "type": "external" } ], "gene_names_uniprotkb": "PPEF1; PPEF; PPP7C", "gene_names_refseq": "PP7; PPEF1; PPEF; PPP7CA; PPP7C", "protein_names_uniprotkb": "Serine/threonine-protein phosphatase with EF-hands 1; 3.1.3.16; PP7; PPEF-1; PPEF; Protein phosphatase with EF calcium-binding domain; Serine/threonine-protein phosphatase 7", "protein_names_refseq": "protein phosphatase 7, catalytic subunit, alpha isozyme; protein phosphatase with EF calcium-binding domain; protein phosphatase, EF-hand calcium binding domain 1; protein phosphatase, serine/threonine type, with EF-hands; serine/threonine protein phosphatase 7; serine/threonine-protein phosphatase with EF-hands 1 isoform 1; serine/threonine-protein phosphatase with EF-hands 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:5475); (R-HSA-2514859)", "pathway_count": 2, "publication_count": 68, "publication_id_list": "10037746;10051575;10564809;10676965;11237011;11292825;11601986;11687658;11713293;11754336;12036349;12119397;12499365;12825937;1356371;1379636;1387789;1436039;14702087;14759258;15946941;16274222;16895762;16908407;17114291;17636946;18803695;19615748;19818506;1999465;20430952;20975703;22658984;2540796;2550422;2558719;25880248;28051100;28904123;29557506;3006923;30379171;3164688;32265295;33298915;33783058;35051231;4772407;6264430;7525588;7526403;7644482;7670478;7678445;7682292;7777544;7983048;8494894;8626439;8706659;8812493;9119368;9215685;9326663;9353336;9430683;9459445;9506952", "class_list": "", "function": "Collectively, these data demonstrate that PPEF-1 plays a pivotal role in tumorigenesis of lung cancer cells by reducing PDCD5-mediated genotoxic stress responses. Publication Status: Online-Only, [RefSeq, PubMed]; Dephosphorylates and destabilises PDCD5 to inhibit TP53/p53-mediated signaling (PubMed:28051100). May have a role in the recovery or adaptation response of photoreceptors (By similarity)., [UniProtKB, PubMed, UniProtKB]; The protein phosphatase with EF-hand domain 1 is a calmodulin-binding protein that interacts with proteins involved in sperm capacitation, binding to the zona pellucida, and motility., [RefSeq, PubMed]; This gene encodes a member of the serine/threonine protein phosphatase with EF-hand motif family. The protein contains a protein phosphatase catalytic domain, and at least two EF-hand calcium-binding motifs in its C terminus. Although its substrate(s) is unknown, the encoded protein has been suggested to play a role in specific sensory neuron function and/or development. This gene shares high sequence similarity with the Drosophila retinal degeneration C (rdgC) gene. Several alternatively spliced transcript variants, each encoding a distinct isoform, have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 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"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:0005506 iron ion binding;GO:0030145 manganese ion binding;GO:0005509 calcium ion binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0050906 detection of stimulus involved in sensory perception;GO:0006470 protein dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "O14829-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60809-1", "uniprot_id": [ { "id": "PRA10_HUMAN", "url": "https://www.uniprot.org/uniprot/O60809", "type": "external" } ], "mass": 55211.0, "length": 474, "protein_name": "PRAME family member 10", "gene_name": "PRAMEF10", "organism": "Human", "refseq_name": "PRAME family member 10", "refseq_ac": [ { "id": "NP_001034450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034450", "type": "external" } ], "gene_names_uniprotkb": "PRAMEF10", "gene_names_refseq": "PRAMEF10", "protein_names_uniprotkb": "PRAME family member 10", "protein_names_refseq": "PRAME family member 10", "tax_id": 9606, "disease": "", "pathway": " (hsa:343071)", "pathway_count": 1, "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, 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"protein_names_uniprotkb": "PRAME family member 2", "protein_names_refseq": "PRAME family member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:65122)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "24714562;28228285;32387766;35051231", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045596 negative regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "O60811-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95685-1", "uniprot_id": [ { "id": "PPR3D_HUMAN", "url": "https://www.uniprot.org/uniprot/O95685", "type": "external" } ], "mass": 32559.0, "length": 299, "protein_name": "Protein phosphatase 1 regulatory subunit 3D", "gene_name": "PPP1R3D", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 3D", "refseq_ac": [ { "id": "NP_006233", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006233", "type": "external" } ], "gene_names_uniprotkb": "PPP1R3D; PPP1R6", "gene_names_refseq": "PPP1R3D; PPP1R6", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 3D; PP1 subunit R6; Protein phosphatase 1 regulatory subunit 6; Protein phosphatase 1-binding subunit R6", "protein_names_refseq": "PP1 subunit R6; protein phosphatase 1 regulatory subunit 3D; protein phosphatase 1 regulatory subunit 6; protein phosphatase 1, regulatory (inhibitor) subunit 3D; protein phosphatase 1, regulatory subunit 6, spinophilin; protein phosphatase 1-binding subunit R6", "tax_id": 9606, "disease": "", "pathway": " (hsa:5509)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "16901901;18088087;18669648;20058876;23186163;23624058;25418920;26992070;28904123;29557506;29786170;30429286;31154438;31530632;31844290;31848261;32161166;32350084;32897882;32938616;34087483;34260071;35051231;9414128", "class_list": "", "function": "Host miR-4301 promotes rotavirus replication via PPP1R3D in Caco-2 cells., [RefSeq, PubMed]; Phosphorylation of serine and threonine residues in proteins is a crucial step in the regulation of many cellular functions ranging from hormonal regulation to cell division and even short-term memory. The level of phosphorylation is controlled by the opposing actions of protein kinases and protein phosphatases. Protein phosphatase 1 (PP1) is 1 of 4 major serine/threonine-specific protein phosphatases which have been identified in eukaryotic cells. PP1 associates with various regulatory subunits that dictate its subcellular localization and modulate its substrate specificity. Several subunits that target PP1 to glycogen have been identified. This gene encodes a glycogen-targeting subunit of PP1. [provided by RefSeq, Jul 2008]., [RefSeq]; Seems to act as a glycogen-targeting subunit for PP1. PP1 is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis., [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": 7, "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": "Q6DK02", "ec_number_list": [], "go_molecular_function": "GO:0004722 protein serine/threonine phosphatase activity;GO:0008157 protein phosphatase 1 binding;GO:2001069 glycogen binding", "go_cellular_component": "GO:0000164 protein phosphatase type 1 complex;GO:0042587 glycogen granule", "go_biological_process": "GO:0005981 regulation of glycogen catabolic process;GO:0005977 glycogen metabolic process;GO:0005979 regulation of glycogen biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "O95685-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01236-1", "uniprot_id": [ { "id": "PRL_HUMAN", "url": "https://www.uniprot.org/uniprot/P01236", "type": "external" } ], "mass": 25876.0, "length": 227, "protein_name": "Prolactin", "gene_name": "PRL", "organism": "Human", "refseq_name": "prolactin precursor", "refseq_ac": [ { "id": "NP_000939", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000939", "type": "external" } ], "gene_names_uniprotkb": "PRL", "gene_names_refseq": "GHA1; PRL; pPRL", "protein_names_uniprotkb": "Prolactin; PRL", "protein_names_refseq": "decidual prolactin; growth hormone A1; luteotropic hormone; luteotropin; prolactin peptide; prolactin precursor", "tax_id": 9606, "disease": "fetal alcohol spectrum disorder (Disease Ontology:DOID:0050696); alcohol dependence (Disease Ontology:DOID:0050741); withdrawal disorder (Disease Ontology:DOID:0060001); portal hypertension (Disease Ontology:DOID:10762); impulse control disorder (Disease Ontology:DOID:10937); hyperprolactinemia (Disease Ontology:DOID:12700); renovascular hypertension (Disease Ontology:DOID:1591); depressive disorder (Disease Ontology:DOID:1596); severe acute respiratory syndrome (Disease Ontology:DOID:2945); carotid artery disease (Disease Ontology:DOID:3407); prolactinoma (Disease Ontology:DOID:5394); hepatocellular carcinoma (Disease Ontology:DOID:684); cocaine abuse (Disease Ontology:DOID:809); obesity (Disease Ontology:DOID:9970); cocaine dependence (Disease Ontology:DOID:9975); hypoglycemia (Disease Ontology:DOID:9993)", "pathway": " (hsa:5617); (R-HSA-1170546); (R-HSA-977225); (R-HSA-982772); (R-HSA-9927426)", "pathway_count": 5, "publication_count": 109, "publication_id_list": "10097139;10319874;10391242;10411933;10537136;10583407;10956649;11237011;1126929;11278841;11401442;11467836;11590439;118839;11943200;12454989;1270801;12729745;12907755;12970160;14506261;14567678;15064394;15082796;1549776;15687336;15767667;15962837;16045928;16174740;16546209;16799559;16840534;17425515;17785459;18065497;18070888;1837051;18449172;18467331;18484335;18488018;1849145;19011241;1948064;19555049;19658395;19828817;19927328;20053995;2050267;20676056;20807650;2118650;2195544;22065755;22131221;22649370;23813966;2409350;24833601;24893886;25523424;26018760;26417681;26668317;26686862;26807092;279930;2825030;2900981;3035556;3053705;3080684;3094007;3142462;31741759;32350084;3349036;34357683;35051231;35154160;3675579;38396659;38465779;38572480;39096246;39135519;6146607;6260780;6325171;7691587;8033412;8097946;8114934;8159701;8188682;8343952;8464497;8490014;8870004;9006323;9030599;9054935;9058373;925136;9266104;9449632;9862427", "class_list": "", "function": "A Century of Prolactin: Emerging Perspectives as a Metabolic Regulator. Review article, [RefSeq, PubMed]; A study on the correlations of PRL levels with anxiety, depression, sleep, and self-efficacy in patients with prolactinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Current Insights in Prolactin Signaling and Ovulatory Function. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Neuregulin 4 (Nrg4) cooperates with melatonin to regulate the PRL expression via ErbB4/Erk signaling pathway as a potential prolactin (PRL) regulator., [RefSeq, PubMed]; Prolactin acts primarily on the mammary gland by promoting lactation., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Pronounced neonatal breast enlargement beyond the first week of life and its regression correlates with serum prolactin levels - a case series. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the anterior pituitary hormone prolactin. This secreted hormone is a growth regulator for many tissues, including cells of the immune system. It may also play a role in cell survival by suppressing apoptosis, and it is essential for lactation. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Aug 2011]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 7, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 16, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q15199;Q92996", "ec_number_list": [], "go_molecular_function": "GO:0005148 prolactin receptor binding;GO:0005179 hormone activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031904 endosome lumen", "go_biological_process": "GO:0007166 cell surface receptor signaling pathway;GO:0031667 response to nutrient levels;GO:0007565 female pregnancy;GO:0043123 positive regulation of canonical NF-kappaB signal transduction;GO:0001937 negative regulation of endothelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 11.0, "record_id": "P01236-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P10696-1", "uniprot_id": [ { "id": "PPBN_HUMAN", "url": "https://www.uniprot.org/uniprot/P10696", "type": "external" } ], "mass": 57377.0, "length": 532, "protein_name": "Alkaline phosphatase, germ cell type", "gene_name": "ALPG", "organism": "Human", "refseq_name": "alkaline phosphatase, germ cell type preproprotein", "refseq_ac": [ { "id": "NP_112603", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_112603", "type": "external" } ], "gene_names_uniprotkb": "ALPG; ALPPL2; ALPPL", "gene_names_refseq": "ALPG; ALPPL2; ALPPL; GCAP", "protein_names_uniprotkb": "Alkaline phosphatase, germ cell type; 3.1.3.1; ALP-1; Alkaline phosphatase Nagao isozyme; Alkaline phosphatase, placental-like; GCAP; Germ cell alkaline phosphatase; PLAP-like; Placental alkaline phosphatase-like", "protein_names_refseq": "ALP-1; Nagao isozyme; alkaline phosphatase Nagao isozyme; alkaline phosphatase, germ cell type preproprotein; alkaline phosphatase, germ cell type; alkaline phosphatase, placental like 2; alkaline phosphatase, placental-like; germ cell alkaline phosphatase; placental-like alkaline phosphatase; testicular and thymus alkaline phosphatase", "tax_id": 9606, "disease": "", "pathway": " (hsa:251); (R-HSA-163125)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10.1074/mcp.M114.046862;11072085;1939159;20112406;2162249;2297757;23467613;23719902;2443973;25813380;2745460;2834730;29393594;30496798;30648747;31848261;32187559;32868383;3387245;3422494;3443302", "class_list": "", "function": "ALPPL2 Is a Highly Specific and Targetable Tumor Cell Surface Antigen., [RefSeq, PubMed]; Alkaline phosphatase that can hydrolyze various phosphate compounds., [UniProtKB, PubMed]; Aptamer-mediated identification of ALPPL-2 on the cell surface and cell secretions of pancreatic cancer cells supports its potential use in the serum- and membrane-based diagnosis of PDAC, [RefSeq, PubMed]; GWAS identified a novel gene encoding an anastrozole transporter, SLC38A7, as well as epistatic interaction between SNPs in that gene and SNPs near ALPPL2 that influenced both the expression of the transporter and anastrozole plasma concentrations, [RefSeq, PubMed]; Identification of ALPPL2 as a Naive Pluripotent State-Specific Surface Protein Essential for Human Naive Pluripotency Regulation., [RefSeq, PubMed]; Our results indicated that the expression of ALPPL2 was significantly increased in gastric adenocarcinoma and was an independent factor that could provide reliable prognostic information on gastric adenocarcinoma patients, [RefSeq, PubMed]; There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The product of this gene is a membrane bound glycosylated enzyme, localized to testis, thymus and certain germ cell tumors, that is closely related to both the placental and intestinal forms of alkaline phosphatase. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "A8KAF2;Q16727;Q53S81;Q96CM1", "ec_number_list": [ { "id": "3.4.11.9", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.11.9", "type": "external" }, { "id": "3.5.1.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.92", "type": "external" }, { "id": "3.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.1", "type": "external" }, { "id": "3.9.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.9.1.1", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "3.4.17.12", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.17.12", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.4.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.50", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "2.4.2.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.2.31", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" } ], "go_molecular_function": "GO:0004035 alkaline phosphatase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005886 plasma membrane;GO:0098552 side of membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P10696-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30044-1", "uniprot_id": [ { "id": "PRDX5_HUMAN", "url": "https://www.uniprot.org/uniprot/P30044", "type": "external" } ], "mass": 22086.0, "length": 214, "protein_name": "Peroxiredoxin-5, mitochondrial", "gene_name": "PRDX5", "organism": "Human", "refseq_name": "peroxiredoxin-5, mitochondrial isoform S", "refseq_ac": [ { "id": "NP_001345445", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001345445", "type": "external" } ], "gene_names_uniprotkb": "PRDX5; ACR1; SBBI10", "gene_names_refseq": "ACR1; AOEB166; B166; HEL-S-55; PLP; PMP20; PRDX5; PRDX6; PRXV; SBBI10; prx-V", "protein_names_uniprotkb": "Peroxiredoxin-5, mitochondrial; 1.11.1.24; AOEB166; Alu corepressor 1; Antioxidant enzyme B166; Liver tissue 2D-page spot 71B; PLP; Peroxiredoxin V; Peroxisomal antioxidant enzyme; Prx-V; TPx type VI; Thioredoxin peroxidase PMP20; Thioredoxin-dependent peroxiredoxin 5", "protein_names_refseq": "Alu co-repressor 1; TPx type VI; antioxidant enzyme B166; epididymis secretory protein Li 55; liver tissue 2D-page spot 71B; peroxiredoxin V; peroxiredoxin-5, mitochondrial isoform S; peroxiredoxin-5, mitochondrial; peroxisomal antioxidant enzyme; thioredoxin peroxidase PMP20; thioredoxin reductase; thioredoxin-dependent peroxiredoxin 5", "tax_id": 9606, "disease": "common cold (Disease Ontology:DOID:10459)", "pathway": " (hsa:25824)", "pathway_count": 1, "publication_count": 88, "publication_id_list": "10095767;10514471;10521424;10679306;10751410;10931946;11518528;1286669;14978097;16959974;17628720;18489898;19608861;19615748;20643143;23301498;23481700;24714562;25418920;25645385;26375851;26728094;26811146;26992070;27452731;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29314611;29331515;29437277;29508533;29557506;29632046;29632711;29786170;30192525;30315122;30429286;30524438;31020640;31217245;31740833;31844290;32119511;32157095;32350084;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34509645;34725712;35051231;35083852;35251023;35580925;36010968;36215666;36241641;37495908;38010188;38115765;38665916", "class_list": "", "function": "Identification of PRDX5 as A Target for The Treatment of Castration-Resistant Prostate Cancer., [RefSeq, PubMed]; Selenoprotein P, peroxiredoxin-5, renalase, and total antioxidant status in patients with suspected obstructive sleep apnea., [RefSeq, PubMed]; Thiol-specific peroxidase that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols, respectively. Plays a role in cell protection against oxidative stress by detoxifying peroxides and as sensor of hydrogen peroxide-mediated signaling events., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; This gene encodes a member of the peroxiredoxin family of antioxidant enzymes, which reduce hydrogen peroxide and alkyl hydroperoxides. The encoded protein interacts with peroxisome receptor 1 and plays an antioxidant protective role in different tissues under normal conditions and during inflammatory processes. The use of alternate transcription start sites is thought to result in transcript variants that use different in-frame translational start codons to generate isoforms that are targeted to the mitochondrion (isoform L) or peroxisome/cytoplasm (isoform S). Multiple related pseudogenes have been defined for this gene. [provided by RefSeq, Nov 2017]., [RefSeq]; We present new alternative splicing variants encoded specifically by human PRDX5 gene. The characterization of human PRDX5 gene revealed complexity of its regulation & high variability of sequences that might be associated with pathological situations., [RefSeq, PubMed]; [Thioredoxin-reductase in fibroblasts of human dermis in the process of 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": 2, "reported_mutagensis": 3, "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": "A6NC19;A6NG06;B7ZLJ4;B7ZVW3;Q14CK0;Q6IAF2;Q9UBU5;Q9UJU4;Q9UKX4", "ec_number_list": [ { "id": "1.11.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.24", "type": "external" } ], "go_molecular_function": "GO:0001016 RNA polymerase III transcription regulatory region sequence-specific DNA binding;GO:0072541 peroxynitrite reductase activity;GO:0005102 signaling receptor binding;GO:0042802 identical protein binding;GO:0016209 antioxidant activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0060785 regulation of apoptosis involved in tissue homeostasis;GO:2001057 reactive nitrogen species metabolic process;GO:0006954 inflammatory response;GO:0006979 response to oxidative stress;GO:0043066 negative regulation of apoptotic process", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "P30044-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43686-1", "uniprot_id": [ { "id": "PRS6B_HUMAN", "url": "https://www.uniprot.org/uniprot/P43686", "type": "external" } ], "mass": 47366.0, "length": 418, "protein_name": "26S proteasome regulatory subunit 6B", "gene_name": "PSMC4", "organism": "Human", "refseq_name": "26S proteasome regulatory subunit 6B isoform 1", "refseq_ac": [ { "id": "NP_006494", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006494", "type": "external" } ], "gene_names_uniprotkb": "PSMC4; MIP224; TBP7", "gene_names_refseq": "MIP224; PSMC4; RPT3; S6; TBP-7; TBP7", "protein_names_uniprotkb": "26S proteasome regulatory subunit 6B; 26S proteasome AAA-ATPase subunit RPT3; MB67-interacting protein; MIP224; Proteasome 26S subunit ATPase 4; TBP-7; Tat-binding protein 7", "protein_names_refseq": "26S protease regulatory subunit 6B; 26S proteasome AAA-ATPase subunit RPT3; 26S proteasome regulatory subunit 6B isoform 1; 26S proteasome regulatory subunit 6B; MB67-interacting protein; Tat-binding protein 7; protease 26S subunit 6; proteasome (prosome, macropain) 26S subunit, ATPase, 4", "tax_id": 9606, "disease": "neurodegenerative disease (Disease Ontology:DOID:1289); hereditary spastic paraplegia (Disease Ontology:DOID:2476); amyotrophic lateral sclerosis (Disease Ontology:DOID:332)", "pathway": " (hsa:5704); (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": 1067, 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"class_list": "", "function": "A novel specific interaction of synphilin-1 with the regulatory proteasomal protein S6 ATPase (tbp7) in aggresome-like intracytoplasmic inclusions, [RefSeq, PubMed]; 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. PSMC4 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides., [UniProtKB, PubMed, PubMed]; PSMC4 promotes prostate carcinoma progression by regulating the CBX3-EGFR-PI3K-AKT-mTOR pathway., [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 triple-A family of ATPases that is a component of the 19S regulatory subunit and plays a role in 26S proteasome assembly. The encoded protein interacts with gankyrin, a liver oncoprotein, and may also play a role in Parkinson's disease through interactions with synphilin-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q96FV5;Q9UBM3;Q9UEX3", "ec_number_list": [], "go_molecular_function": "GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0036402 proteasome-activating activity", "go_cellular_component": "GO:0008540 proteasome regulatory particle, base subcomplex;GO:0022624 proteasome accessory complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0071357 cellular response to type I interferon;GO:0006508 proteolysis;GO:0006979 response to oxidative stress;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010498 proteasomal protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 107.1, "record_id": "P43686-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49643-1", "uniprot_id": [ { "id": "PRI2_HUMAN", "url": "https://www.uniprot.org/uniprot/P49643", "type": "external" } ], "mass": 58806.0, "length": 509, "protein_name": "DNA primase large subunit", "gene_name": "PRIM2", "organism": "Human", "refseq_name": "DNA primase large subunit isoform a", "refseq_ac": [ { "id": "NP_000938", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000938", "type": "external" } ], "gene_names_uniprotkb": "PRIM2; PRIM2A", "gene_names_refseq": "PRIM2A; PRIM2; p58", "protein_names_uniprotkb": "DNA primase large subunit; DNA primase 58 kDa subunit; p58", "protein_names_refseq": "DNA primase 58 kDa subunit; DNA primase large subunit isoform a; DNA primase large subunit; primase (DNA) subunit 2; primase, DNA, polypeptide 2 (58kDa)", "tax_id": 9606, "disease": "", "pathway": " (hsa:5558); (R-HSA-113501); (R-HSA-174411); (R-HSA-174430); (R-HSA-68952); (R-HSA-68962); (R-HSA-69091); (R-HSA-69166); (R-HSA-69183); (R-HSA-9710421)", "pathway_count": 10, "publication_count": 126, "publication_id_list": "10329413;10373557;10518787;10523313;10656791;10656792;10751307;10757793;10846177;10882098;11003670;11095689;11125146;11237011;11473323;11724925;12045100;12766176;12930902;1328683;14527418;14766746;15066120;16314528;1671046;1682322;17699597;17893144;17991896;18223688;18346456;19413330;19661920;1974050;19854130;19896182;20068231;20112406;20639858;2165567;22645359;22871736;23186163;24038470;24043831;24115439;24715725;25231993;25418920;25550159;25576301;25880248;26154972;26929215;26975377;26992070;27846572;27862975;27920218;28063628;28218747;28228285;28334750;28404884;28514659;28832583;28904123;29242379;29393594;29437277;29557506;29632046;29769354;29774655;30026550;30315122;30410026;30779550;30993897;31217245;31222486;31844290;31848261;31998317;32157095;32161166;32188940;32265295;32357974;32387766;32897882;32938616;33298915;33633747;33717175;33968037;34019948;34058013;34087483;34509645;34725712;34932366;35051231;35580925;36010968;36215666;36241641;38423596;40914422;6094569;6693436;7378348;7711022;7713898;7876218;8026492;8104944;8131753;8144677;8954124;9081985;9191022;9660172;9660782;9705292;9822671", "class_list": "", "function": "Genetic variants of CHEK1, PRIM2 and CDK6 in the mitotic phase-related pathway are associated with nonsmall cell lung cancer survival., [RefSeq, PubMed]; PRIM2: A Marker of MYC-driven Hyper-proliferation, Disease Progression, Tumor Aggressiveness and Poor Survival in Glioma Patients., [RefSeq, PubMed]; Regulatory subunit of the DNA primase complex and component of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which play an essential role in the initiation of DNA synthesis (PubMed:17893144, PubMed:25550159, PubMed:26975377, PubMed:9705292). During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, an accessory subunit POLA2 and two primase subunits, the catalytic subunit PRIM1 and the regulatory subunit PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1 (By similarity). The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands (PubMed:17893144). These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively (By similarity). In the primase complex, both subunits are necessary for the initial di-nucleotide formation, but the extension of the primer depends only on the catalytic subunit (PubMed:17893144, PubMed:25550159). Binds RNA:DNA duplex and coordinates the catalytic activities of PRIM1 and POLA2 during primase-to-polymerase switch., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; This gene encodes the 58 kilodalton subunit of DNA primase, an enzyme that plays a key role in the replication of DNA. The encoded protein forms a heterodimer with a 49 kilodalton subunit. This heterodimer functions as a DNA-directed RNA polymerase to synthesize small RNA primers that are used to create Okazaki fragments on the lagging strand of the DNA. Alternative splicing of this gene results in multiple transcript variants. This gene has a related pseudogene, which is also present on chromosome 6. [provided by RefSeq, Apr 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53FJ8;Q6P1Q7;Q8WVL2;Q9H413", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046872 metal ion binding;GO:0051539 4 iron, 4 sulfur cluster binding;GO:0071667 DNA/RNA hybrid binding", "go_cellular_component": "GO:0005658 alpha DNA polymerase:primase complex;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006270 DNA replication initiation;GO:0006269 DNA replication, synthesis of primer", "synthesized_glycan_count": 0, "hit_score": 12.9, "record_id": "P49643-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57071-7", "uniprot_id": [ { "id": "PRD15_HUMAN", "url": "https://www.uniprot.org/uniprot/P57071", "type": "external" } ], "mass": 129585.0, "length": 1141, "protein_name": "PR domain zinc finger protein 15", "gene_name": "PRDM15", "organism": "Human", "refseq_name": "PR domain zinc finger protein 15 isoform 2", "refseq_ac": [ { "id": "NP_001035514", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035514", "type": "external" } ], "gene_names_uniprotkb": "PRDM15; C21orf83; ZNF298", "gene_names_refseq": "C21orf83; PFM15; PRDM15; ZNF298", "protein_names_uniprotkb": "PR domain zinc finger protein 15; 2.1.1.-; PR domain-containing protein 15; Zinc finger protein 298", "protein_names_refseq": "PR domain 15; PR domain containing 15; PR domain zinc finger protein 15 isoform 2; PR domain zinc finger protein 15; zinc finger protein 298", "tax_id": 9606, "disease": "", "pathway": " (hsa:63977)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "10.1101/2023.09.13.557529;12036297;12036298;15904895;23481700;25576301;25645385;25755297;26728094;27920218;28218747;28228285;28740264;28832583;28834231;29242379;29393594;29508533;29632046;29786170;30379171;30524438;30779550;30833945;31222486;31950080;32161166;32222710;33593823;36674842;37817227;40608935", "class_list": "", "function": "Findings indicate that PR domain containing 15 protein (PRDM15) is important in both mouse and human induced pluripotent stem cells (iPSCs) reprogramming., [RefSeq, PubMed]; Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome., [RefSeq, PubMed]; PRDM15 Is Associated with Risk of Chronic Obstructive Pulmonary Disease in a Rural Population in Chile., [RefSeq, PubMed]; PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly. Publication Status: Online-Only, [RefSeq, PubMed]; Proof-of-Concept Method to Study Uncharacterized Methyltransferases Using PRDM15. Publication Status: Online-Only, [RefSeq, PubMed]; Sequence-specific DNA-binding transcriptional regulator. Plays a role as a molecular node in a transcriptional network regulating embryonic development and cell fate decision. Stimulates the expression of upstream key transcriptional activators and repressors of the Wnt/beta-catenin and MAPK/ERK pathways, respectively, that are essential for naive pluripotency and self-renewal maintenance of embryonic stem cells (ESCs). Specifically promotes SPRY1 and RSPO1 transcription activation through recognition and direct binding of a specific DNA sequence in their promoter regions. Involved in early embryo development (By similarity). Also plays a role in induced pluripotent stem cells (iPSCs) reprogramming (PubMed:28740264)., [UniProtKB, UniProtKB, PubMed]; The RNA methyltransferase METTL16 enhances cholangiocarcinoma growth through PRDM15-mediated FGFR4 expression. 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "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": "E9PDJ6;E9PF37;E9PGL3;Q4W8S0;Q4W8S3;Q4W8S4;Q4W8S5;Q8N0X3;Q8NEX0;Q9NQV3", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0008168 methyltransferase activity;GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:1990841 promoter-specific chromatin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body", "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:0090263 positive regulation of canonical Wnt signaling pathway;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "P57071-7", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60673-1", "uniprot_id": [ { "id": "PROF3_HUMAN", "url": "https://www.uniprot.org/uniprot/P60673", "type": "external" } ], "mass": 14596.0, "length": 137, "protein_name": "Profilin-3", "gene_name": "PFN3", "organism": "Human", "refseq_name": "profilin-3", "refseq_ac": [ { "id": "NP_001025057", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025057", "type": "external" } ], "gene_names_uniprotkb": "PFN3", "gene_names_refseq": "PFN3; profilin-3", "protein_names_uniprotkb": "Profilin-3; Profilin III", "protein_names_refseq": "profilin III; profilin-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:345456)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11867228;19419568;24714562;26154972;27397612;27862975;28834231;29493099;29557506;29632711;29786170;31844290;31998317;32488085;33091337;33775850;35051231;37938771", "class_list": "", "function": "Binds to actin and affects the structure of the cytoskeleton. Slightly reduces actin polymerization. Binds to poly-L-proline, phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 4-phosphate (PtdIns(4)P). May be involved in spermatogenesis., [UniProtKB, PubMed]; Porfilin 3 has the actin-binding site conserved, but retains only approximately half of the common poly-L-proline binding site. Publication Status: Online-Only, [RefSeq, PubMed]; Profilin 3 genetic architecture in glioma formalin fixed paraffin embedded (FFPE) archive., [RefSeq, PubMed]; The product of this gene belongs to the profilin family of proteins. This protein binds to actin and affects the structure of the cytoskeleton. It also may be involved in spermatogenesis. It is a single exon gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A2RUL3", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0008289 lipid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005856 cytoskeleton", "go_biological_process": "GO:0032233 positive regulation of actin filament bundle assembly;GO:0030036 actin cytoskeleton organization;GO:0030833 regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "P60673-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P81277-1", "uniprot_id": [ { "id": "PRRP_HUMAN", "url": "https://www.uniprot.org/uniprot/P81277", "type": "external" } ], "mass": 9639.0, "length": 87, "protein_name": "Prolactin-releasing peptide", "gene_name": "PRLH", "organism": "Human", "refseq_name": "prolactin-releasing peptide precursor", "refseq_ac": [ { "id": "NP_056977", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056977", "type": "external" } ], "gene_names_uniprotkb": "PRLH; PRH", "gene_names_refseq": "PRH; PRLH; PRRP", "protein_names_uniprotkb": "Prolactin-releasing peptide; PrRP; Prolactin-releasing hormone", "protein_names_refseq": "preproprolactin-releasing peptide; prolactin-releasing peptide precursor; prolactin-releasing peptide", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:51052); (R-HSA-375276)", "pathway_count": 2, "publication_count": 97, "publication_id_list": "10079109;10100623;10381885;10421367;10421368;10438732;10461880;10498338;10499587;10604470;10854085;10899166;11322507;11385580;11457843;11562423;11683476;11773063;12126742;12427552;12540846;12719537;1280419;12956774;1314587;1317848;1325670;1337145;1346068;14463577;14550283;14573733;15139756;15539556;1567413;15891064;15947423;1655761;1710450;1710578;1719979;1722333;18127230;1847994;23426574;23446738;23690594;24906252;2649896;27496565;29233862;3202875;3366244;34803923;3525564;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;8035319;8062389;8063797;8185599;8201839;8248172;8294032;8373420;8381365;8383682;8395824;8440682;8463333;8503909;8615752;8666380;8702752;873923;8823230;9171878;9521323;9530155;9593744;9607765;9685625;9722565;9792798;9832121;9851594", "class_list": "", "function": "Data indicate that formation of a primarily alpha-helical C-terminal region of prolactin releasing peptide (PrRP) is critical for receptor activation., [RefSeq, PubMed]; PrRP has a likely role in pheochromocytomas, based on its high expression in tumor tissue, [RefSeq, PubMed]; Reproductive Regulation of PrRPs in Teleost: The Link Between Feeding and Reproduction. Publication Status: Online-Only, [RefSeq, PubMed]; Review discusses the ancestral relationship between prolactin-releasing hormone and the C-terminal RF-motif amide precursor peptide (C-RF). Review article, [RefSeq, PubMed]; Stimulates prolactin (PRL) release and regulates the expression of prolactin through its receptor GPR10. May stimulate lactotrophs directly to secrete PRL., [UniProtKB]; This study demonstrates that palm(11)-PrRP31 positively affects feeding and leptin-related hypothalamic 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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0031861 prolactin-releasing peptide receptor binding;GO:0005184 neuropeptide hormone activity;GO:0005179 hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005737 cytoplasm", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007631 feeding behavior;GO:0043434 response to peptide hormone", "synthesized_glycan_count": 0, "hit_score": 9.8, "record_id": "P81277-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16651-1", "uniprot_id": [ { "id": "PRSS8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16651", "type": "external" } ], "mass": 36431.0, "length": 343, "protein_name": "Prostasin", "gene_name": "PRSS8", "organism": "Human", "refseq_name": "prostasin preproprotein", "refseq_ac": [ { "id": "NP_002764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002764", "type": "external" } ], "gene_names_uniprotkb": "PRSS8", "gene_names_refseq": "CAP1; PROSTASIN; PRSS8", "protein_names_uniprotkb": "Prostasin; 3.4.21.-; CAP1; Channel-activating protease 1; Serine protease 8", "protein_names_refseq": "channel-activating protease 1; channel-activating serine protease 1; prostasin preproprotein; protease, serine 8", "tax_id": 9606, "disease": "autosomal recessive congenital ichthyosis 4B (Disease Ontology:DOID:0060713); ovarian cancer (Disease Ontology:DOID:2394); breast carcinoma (Disease Ontology:DOID:3459); prostate carcinoma in situ (Disease Ontology:DOID:8634); alopecia (Disease Ontology:DOID:987)", "pathway": " (hsa:5652); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11237011;11350120;11380615;11590230;12902340;15033990;15246975;15337775;15474520;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;19388054;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25576301;25926655;26390218;27846572;29557506;29789417;30459171;32350084;32938616;34823420;35051231;35251023;36715754;38271183;38462165;7543090;7768952;8034638;8824274;8999895;9395522;9565599", "class_list": "", "function": "Knocking down Sterol regulatory element binding protein 2 (SREBF2) inhibits the Serine Protease 8 (PRSS8) /sodium channel epithelial 1alpha subunit (SCNN1A) axis to reduce the cell proliferation, migration and epithelial-mesenchymal transformation of ovarian cancer., [RefSeq, PubMed]; PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis., [RefSeq, PubMed]; Possesses a trypsin-like cleavage specificity with a preference for poly-basic substrates. Stimulates epithelial sodium channel (ENaC) activity through activating cleavage of the gamma subunits (SCNN1G)., [UniProtKB, PubMed, PubMed]; SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation., [RefSeq, PubMed]; This gene encodes a member of the peptidase S1 or chymotrypsin family of serine proteases. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate via a disulfide bond to form the heterodimeric enzyme. This enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. This protease exhibits trypsin-like substrate specificity, cleaving protein substrates at the carboxyl terminus of lysine or arginine residues. The encoded protease partially mediates proteolytic activation of the epithelial sodium channel, a regulator of sodium balance, and may also play a role in epithelial barrier formation. [provided by RefSeq, Feb 2016]., [RefSeq]; YTHDF2 protein stabilization by the deubiquitinase OTUB1 promotes prostate cancer cell proliferation via PRSS8 mRNA degradation., [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": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DWP2;Q9UCA3", "ec_number_list": [ { "id": "3.4.21.75", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.75", "type": "external" }, { "id": "3.4.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.-", "type": "external" }, { "id": "3.4.21.109", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.109", "type": "external" } ], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0016485 protein processing;GO:0010765 positive regulation of sodium ion transport;GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q16651-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16821-1", "uniprot_id": [ { "id": "PPR3A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16821", "type": "external" } ], "mass": 125767.0, "length": 1122, "protein_name": "Protein phosphatase 1 regulatory subunit 3A", "gene_name": "PPP1R3A", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 3A", "refseq_ac": [ { "id": "NP_002702", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002702", "type": "external" } ], "gene_names_uniprotkb": "PPP1R3A; PP1G", "gene_names_refseq": "GM; PP1G; PPP1R3A; PPP1R3", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 3A; Protein phosphatase 1 glycogen-associated regulatory subunit; Protein phosphatase type-1 glycogen targeting subunit; RG1", "protein_names_refseq": "RG1; glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle; glycogen-associated regulatory subunit of protein phosphatase-1; protein phosphatase 1 glycogen- associated regulatory subunit; protein phosphatase 1 regulatory subunit 3A; protein phosphatase 1 regulatory subunit GM; protein phosphatase 1, regulatory (inhibitor) subunit 3A; protein phosphatase type-1 glycogen targeting subunit; serine /threonine specific protein phosphatase; type-1 protein phosphatase skeletal muscle glycogen targeting subunit", "tax_id": 9606, "disease": "type 2 diabetes mellitus (Disease Ontology:DOID:9352); hypoglycemia (Disease Ontology:DOID:9993)", "pathway": " (hsa:5506)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "10648825;11237011;12118251;16959974;17081983;27587435;29331515;29557506;29948331;31235787;31530632;31844290;32387766;35051231;35494241;37642261;38253038;7581368;7926294;9726244", "class_list": "glycogene", "function": "Decreased PPP1R3G in pre-eclampsia impairs human trophoblast invasion and migration via Akt/MMP-9 signaling pathway. Erratum:[Exp Biol Med (Maywood). 2024 Dec 13;249:10419. doi: 10.3389/ebm.2024.10419. PMID: 39790903], [RefSeq, PubMed]; Genome-wide genotyping study and gene expression measurements of healthy and failing human hearts revealed important regulators and cardiac expression quantitative trait loci. PPP1R3A emerges as a regulator whose network connectivity changes significantly between health and disease. RNA sequencing after PPP1R3A knockdown validates network-based predictions and establish PPP1R3A as a central regulator in heart failure. Publication Status: Online-Only, [RefSeq, PubMed]; In the univariate analyses, TP53, PPP1R3A, and KMT2B were significantly more frequently mutated in interval cancers than in screen-detected cancers., [RefSeq, PubMed]; Seems to act as a glycogen-targeting subunit for PP1. PP1 is essential for cell division, and participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Plays an important role in glycogen synthesis but is not essential for insulin activation of glycogen synthase (By similarity)., [UniProtKB]; The glycogen-associated form of protein phosphatase-1 (PP1) derived from skeletal muscle is a heterodimer composed of a 37-kD catalytic subunit and a 124-kD targeting and regulatory subunit. This gene encodes the regulatory subunit which binds to muscle glycogen with high affinity, thereby enhancing dephosphorylation of glycogen-bound substrates for PP1 such as glycogen synthase and glycogen phosphorylase kinase. [provided by RefSeq, Jul 2008]., [RefSeq]; Variant in PPP1R3A is associated with type 2 diabetes., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1833, "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": "A0AVQ2;A4D0T6;O43476;Q75LN8;Q7KYM8;Q86UI6", "ec_number_list": [], "go_molecular_function": "GO:0008157 protein phosphatase 1 binding;GO:2001069 glycogen binding", "go_cellular_component": "GO:0000164 protein phosphatase type 1 complex;GO:0016020 membrane", "go_biological_process": "GO:0005977 glycogen metabolic process;GO:0005979 regulation of glycogen biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q16821-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4J6C6-1", "uniprot_id": [ { "id": "PPCEL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4J6C6", "type": "external" } ], "mass": 83927.0, "length": 727, "protein_name": "Prolyl endopeptidase-like", "gene_name": "PREPL", "organism": "Human", "refseq_name": "prolyl endopeptidase-like isoform 2", "refseq_ac": [ { "id": "NP_001035844", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035844", "type": "external" } ], "gene_names_uniprotkb": "PREPL; KIAA0436", "gene_names_refseq": "CMS22; PREPL", "protein_names_uniprotkb": "Prolyl endopeptidase-like; 3.4.21.-; Prolylendopeptidase-like", "protein_names_refseq": "prolyl endopeptidase-like isoform 2; putative prolyl oligopeptidase", "tax_id": 9606, "disease": "hypotonia-cystinuria syndrome (Disease Ontology:DOID:0060858); congenital myasthenic syndrome 22 (Disease Ontology:DOID:0080587)", "pathway": " (hsa:9581)", "pathway_count": 1, "publication_count": 80, "publication_id_list": "11237011;12225859;15913950;16143824;16385448;22898188;23321636;23481700;23485813;24366607;24610330;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26811146;26992070;27600516;28218747;28228285;28510447;28514659;28649982;28726805;28832583;28904123;29242379;29331515;29393594;29437277;29483676;29557506;29632046;29769354;29786170;30237576;30315122;30410026;30429286;30524438;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32707643;32897882;32938616;32983136;33141586;33392160;33537174;33592498;33691108;33717175;33912179;34087483;34171305;34357683;34509645;35051231;35318648;35580925;36010968;36284347;37147110;37938771;39078710", "class_list": "", "function": "A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings. Publication Status: Online-Only, [RefSeq, PubMed]; Description of L-leucine transport into bladder carcinoma cells, [RefSeq, PubMed]; Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions. Publication Status: Online-Only, [RefSeq, PubMed]; Multiomics Analyses Identify Proline Endopeptidase-Like Protein As a Key Regulator of Protein Trafficking, a Pathway Underlying Alzheimer's Disease Pathogenesis., [RefSeq, PubMed]; Serine peptidase whose precise substrate specificity remains unclear (PubMed:16143824, PubMed:16385448, PubMed:28726805). Does not cleave peptides after a arginine or lysine residue (PubMed:16143824). Regulates trans-Golgi network morphology and sorting by regulating the membrane binding of the AP-1 complex (PubMed:23321636). May play a role in the regulation of synaptic vesicle exocytosis (PubMed:24610330)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene belongs to the prolyl oligopeptidase subfamily of serine peptidases. Mutations in this gene have been associated with hypotonia-cystinuria syndrome, also known as the 2p21 deletion syndrome. Several alternatively spliced transcript variants encoding either the same or different isoforms have been described for this gene.[provided by RefSeq, Jan 2010]., [RefSeq]; We report the first homozygous PREPL point mutation in a girl with typical PREPL deficiency. This syndrome should be considered in the differential diagnosis of hypotonic neonates exhibiting myasthenic symptoms, hyperphagia, and various degrees of ID. 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": 0, "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": "A7E2X6;D6W5A3;O43163;Q4J6C3;Q4J6C4;Q4ZG39;Q6ZMW7;Q96DW7", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008233 peptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0006508 proteolysis;GO:0043001 Golgi to plasma membrane protein transport;GO:0042147 retrograde transport, endosome to Golgi;GO:2000300 regulation of synaptic vesicle exocytosis", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q4J6C6-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JR12-1", "uniprot_id": [ { "id": "PPM1J_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JR12", "type": "external" } ], "mass": 54834.0, "length": 505, "protein_name": "Protein phosphatase 1J", "gene_name": "PPM1J", "organism": "Human", "refseq_name": "protein phosphatase 1J", "refseq_ac": [ { "id": "NP_005158", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005158", "type": "external" } ], "gene_names_uniprotkb": "PPM1J; PPP2CZ", "gene_names_refseq": "PP2C-zeta; PP2CZ; PP2Czeta; PPM1J; PPP2CZ", "protein_names_uniprotkb": "Protein phosphatase 1J; 3.1.3.16; PP2C-zeta; Protein phosphatase 2C isoform zeta", "protein_names_refseq": "protein phosphatase 1J (PP2C domain containing); protein phosphatase 1J; protein phosphatase 2C zeta", "tax_id": 9606, "disease": "", "pathway": " (hsa:333926)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;18553930;18669648;23186163;25645385;32938616;34087483;36215666;37217939", "class_list": "", "function": "This gene encodes the serine/threonine protein phosphatase. The mouse homolog of this gene apparently belongs to the protein phosphatase 2C family of genes. The exact function of this gene is not yet known. [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": 7, "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": "B3KSB7;Q6DKJ7;Q96EZ7;Q9UF84", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0004741 [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity;GO:0004722 protein serine/threonine phosphatase activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q5JR12-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SWL7-1", "uniprot_id": [ { "id": "PRA14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SWL7", "type": "external" } ], "mass": 55081.0, "length": 474, "protein_name": "PRAME family member 14", "gene_name": "PRAMEF14", "organism": "Human", "refseq_name": "PRAME family member 14", "refseq_ac": [ { "id": "NP_001019832", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019832", "type": "external" } ], "gene_names_uniprotkb": "PRAMEF14", "gene_names_refseq": "PRAMEF14", "protein_names_uniprotkb": "PRAME family member 14", "protein_names_refseq": "PRAME family member 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:729528)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "29557506", "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": 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": "A6NFR9", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045596 negative regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q5SWL7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5SWL8-1", "uniprot_id": [ { "id": "PRA19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5SWL8", "type": "external" } ], "mass": 55208.0, "length": 479, "protein_name": "PRAME family member 19", "gene_name": "PRAMEF19", "organism": "Human", "refseq_name": "PRAME family member 19", "refseq_ac": [ { "id": "NP_001093260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093260", "type": "external" } ], "gene_names_uniprotkb": "PRAMEF19", "gene_names_refseq": "PRAMEF19", "protein_names_uniprotkb": "PRAME family member 19", "protein_names_refseq": "PRAME family member 19; PRAME family member-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:645414)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "28228285;29557506;31844290", "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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045596 negative regulation of cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q5SWL8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VTL8-1", "uniprot_id": [ { "id": "PR38B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VTL8", "type": "external" } ], "mass": 64468.0, "length": 546, "protein_name": "Pre-mRNA-splicing factor 38B", "gene_name": "PRPF38B", "organism": "Human", "refseq_name": "pre-mRNA-splicing factor 38B isoform a", "refseq_ac": [ { "id": "NP_060531", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060531", "type": "external" } ], "gene_names_uniprotkb": "PRPF38B", "gene_names_refseq": "NET1; PRPF38B", "protein_names_uniprotkb": "Pre-mRNA-splicing factor 38B; Sarcoma antigen NY-SAR-27", "protein_names_refseq": "PRP38 pre-mRNA processing factor 38 domain containing B; pre-mRNA-splicing factor 38B isoform a; pre-mRNA-splicing factor 38B; sarcoma antigen NY-SAR-27", "tax_id": 9606, "disease": "", "pathway": " (hsa:55119)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11237011;12601173;15302935;16083285;16964243;17081983;17525332;17924679;18452278;18669648;18767875;19413330;19608861;19651622;20068231;20166139;21406692;23186163;25418920;25576301;26929215;26992070;27862975;28218747;28228285;28510447;28832583;28834231;29242379;29393594;29437277;29493099;29557506;29632711;30315122;31844290;32157095;32387766;32983136;33298915;33717175;33912179;33968037;34019948;34171305;34405274;35051231;35580925;37217939", "class_list": "", "function": "May be required for pre-mRNA splicing., [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": 23, "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": "Q05DD6;Q32Q58;Q5VTL9;Q6PK39;Q7Z6E2;Q86WF3;Q8IWG9;Q9NW40", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0071011 precatalytic spliceosome;GO:0005681 spliceosomal complex", "go_biological_process": "GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q5VTL8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VV67-1", "uniprot_id": [ { "id": "PPRC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VV67", "type": "external" } ], "mass": 177544.0, "length": 1664, "protein_name": "Peroxisome proliferator-activated receptor gamma coactivator-related protein 1", "gene_name": "PPRC1", "organism": "Human", "refseq_name": "peroxisome proliferator-activated receptor gamma coactivator-related protein 1 isoform 3", "refseq_ac": [ { "id": "NP_001275657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275657", "type": "external" } ], "gene_names_uniprotkb": "PPRC1; KIAA0595", "gene_names_refseq": "PPRC1; PRC", "protein_names_uniprotkb": "Peroxisome proliferator-activated receptor gamma coactivator-related protein 1; PGC-1-related coactivator; PRC", "protein_names_refseq": "PGC-1-related coactivator; peroxisome proliferator-activated receptor gamma coactivator-related protein 1 isoform 3; peroxisome proliferator-activated receptor gamma, coactivator-related 1", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:23082); (R-HSA-2151201)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10412986;10643692;10713165;11237011;11340167;11809803;12374852;12563009;12745923;14550271;14722127;15684387;16079181;16079853;16788062;16890199;16908542;16911507;17031457;17437997;17715127;17923681;18215119;18343819;18680753;19001277;19356719;19417006;19664995;19951946;20068231;21406692;23186163;23481700;23954632;24715725;25505266;25576301;25676728;26024233;26154972;26992070;27397612;27600516;27789709;27846572;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29602958;29605689;29786170;30315122;30379171;30429286;30524438;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33633747;33691108;33818872;33912179;33936100;33968037;33981976;34171305;34211107;34509645;34932366;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37109742;38010586;7629110;7799916;8108407;8333869;9178750;9286700", "class_list": "", "function": "A novel PPRC1 point mutation in a Chinese family with premature ovarian failure: A case study., [RefSeq, PubMed]; Acts as a coactivator during transcriptional activation of nuclear genes related to mitochondrial biogenesis and cell growth. Involved in the transcription coactivation of CREB and NRF1 target genes., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Blood DNA methylation and liver cancer in American Indians: evidence from the Strong Heart Study., [RefSeq, PubMed]; Coordinate regulation of nucleus-encoded mitochondrial transcription factors by NRFs and PGC-1 family coactivators is essential to the control of mitochondrial biogenesis, [RefSeq, PubMed]; Overexpression of the PRC pathway is responsible for mitochondrial proliferation in the context of thyroid oncocytoma, [RefSeq, PubMed]; PGC-1 has a role in regulating gluconeogenic genes along with HNF-4alpha and SREBP-1, [RefSeq, PubMed]; PRC and c-MYC can act in concert through Akt-GSK-3 signaling to reprogram gene expression in response to mitochondrial stress., [RefSeq, PubMed]; PRC is a functional relative of PGC-1 that operates through NRF-1 and possibly other activators in response to proliferative signals, [RefSeq, PubMed]; PRC is a negative regulator of endothelial inflammation; it negatively regulates endothelial adhesion of monocytes via inhibition of NF kappaB activity, [RefSeq, PubMed]; Pan-Cancer Analysis Reveals PPRC1 as a Novel Prognostic Biomarker in Ovarian Cancer and Hepatocellular Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]., [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": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 41, "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": "Q5VV66;Q6P3U5;Q6P3W1;Q76N31;Q9BUJ3;Q9BZE5;Q9Y4E0", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0097009 energy homeostasis", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q5VV67-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VXH4-1", "uniprot_id": [ { "id": "PRAM6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VXH4", "type": "external" } ], "mass": 54852.0, "length": 476, "protein_name": "PRAME family member 6", "gene_name": "PRAMEF6", "organism": "Human", "refseq_name": "PRAME family member 6", "refseq_ac": [ { "id": "NP_001010889", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010889", "type": "external" } ], "gene_names_uniprotkb": "PRAMEF6", "gene_names_refseq": "PRAMEF6", "protein_names_uniprotkb": "PRAME family member 6", "protein_names_refseq": "PRAME family member 6", "tax_id": 9606, "disease": "", "pathway": " (hsa:440561)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "26138980;31217245", "class_list": "", "function": "Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex, which mediates ubiquitination of target proteins, leading to their degradation (PubMed:26138980). The CRL2(PRAMEF6) complex mediates ubiquitination and degradation of truncated MSRB1/SEPX1 selenoproteins produced by failed UGA/Sec decoding (PubMed:26138980)., [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": 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": "A0AUJ9", "ec_number_list": [], "go_molecular_function": "GO:1990756 ubiquitin-like ligase-substrate adaptor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0031462 Cul2-RING ubiquitin ligase complex", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0045892 negative regulation of DNA-templated transcription;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5VXH4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTY3-1", "uniprot_id": [ { "id": "PRS45_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTY3", "type": "external" } ], "mass": 29329.0, "length": 260, "protein_name": "Putative serine protease 45", "gene_name": "PRSS45P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PRSS45P; PRSS45; TESSP5", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative serine protease 45; 3.4.21.-; Serine protease 45, pseudogene; Testis serine protease 5", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "12838346;29557506", "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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A3KN77", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q7RTY3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z4L9-1", "uniprot_id": [ { "id": "PPR42_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z4L9", "type": "external" } ], "mass": 35480.0, "length": 309, "protein_name": "Protein phosphatase 1 regulatory subunit 42", "gene_name": "PPP1R42", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 42 isoform 1", "refseq_ac": [ { "id": "NP_001013648", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013648", "type": "external" } ], "gene_names_uniprotkb": "PPP1R42; LRRC67", "gene_names_refseq": "LRRC67; PPP1R42; TLLR; TLRR; dtr", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 42; Leucine-rich repeat-containing protein 67", "protein_names_refseq": "leucine rich repeat containing 67; leucine-rich repeat-containing protein 67; protein phosphatase 1 regulatory subunit 42 isoform 1; testis leucine-rich repeat", "tax_id": 9606, "disease": "", "pathway": " (hsa:286187)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;23718219;29557506;32488085;35051231", "class_list": "", "function": "PPP1R42 regulation of PP1 function in centrosome separation., [RefSeq, PubMed]; Regulates phosphatase activity of protein phosphatase 1 (PP1) complexes in the testis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene can interact with gamma-tubulin and PP1 phosphatase, a regulator of centrosome separation. The encoded protein is a positive regulator of PP1 phosphatase and thus plays a role in the control of centrosome integrity. [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": 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": "G3V118", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding;GO:0070840 dynein complex binding;GO:0015631 tubulin binding", "go_cellular_component": "GO:0005813 centrosome;GO:0015630 microtubule cytoskeleton;GO:0005815 microtubule organizing center;GO:0002177 manchette", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q7Z4L9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86T03-1", "uniprot_id": [ { "id": "PP4P1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86T03", "type": "external" } ], "mass": 29470.0, "length": 277, "protein_name": "Type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase", "gene_name": "PIP4P1", "organism": "Human", "refseq_name": "type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase isoform 1", "refseq_ac": [ { "id": "NP_001094284", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094284", "type": "external" } ], "gene_names_uniprotkb": "PIP4P1; C14orf9; TMEM55B", "gene_names_refseq": "C14orf9; PIP4P1; TMEM55B", "protein_names_uniprotkb": "Type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase; 3.1.3.78; PtdIns-4,5-P2 4-Ptase I; Transmembrane protein 55B; Type 1 PtdIns-4,5-P2 4-Ptase", "protein_names_refseq": "ptdIns-4,5-P(2) 4-phosphatase type I; ptdIns-4,5-P2 4-Ptase I; transmembrane protein 55B; type 1 PtdIns-4,5-P2 4-Ptase; type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase isoform 1; type 1 phosphatidylinositol 4,5-bisphosphate 4-phosphatase; type I PtdIns-4,5-P(2) 4-phosphatase; type I phosphatidylinositol-4,5-bisphosphate 4-phosphatase", "tax_id": 9606, "disease": "", "pathway": " (hsa:90809); (R-HSA-6811555); (R-HSA-8847453)", "pathway_count": 3, "publication_count": 31, "publication_id_list": "10698683;11237011;12859901;16024799;16365287;16949365;17940011;18669648;20068231;20583997;22645359;23193159;25035345;25502872;26992070;28218747;29146937;29437277;29493099;29644770;30315122;31844290;32157095;32350084;33537719;33592498;33912179;33968037;34357683;35154160;35251023", "class_list": "", "function": "Catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate (PtdIns-4,5-P2) to phosphatidylinositol-4-phosphate (PtdIns-4-P)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Expression array profiling was performed on lymphoblastoid cell lines from statin clinical trial participants showed sterol-regulated expression of TMEM55B. Knockdown promoted LDL receptor decay and decreased its cholesterol uptake., [RefSeq, PubMed]; Identification and characterization of two previously undescribed human enzymes, PtdIns-4,5-P(2) 4-phosphatase type I and type II, [RefSeq, PubMed]; Regulation of lysosomal positioning via TMEM55B phosphorylation. Review article, [RefSeq, PubMed]; Results suggest that TMEM55B contributes to assembly of the V-ATPase complex in lipid rafts of the lysosomal membrane and to subsequent activation of mTORC1., [RefSeq, PubMed]; TMEM55B catalyzes the degradation of phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P2) by removing the 4-phosphate (Ungewickell et al., 2005 [PubMed 16365287]).[supplied by OMIM, Mar 2008]., [RefSeq]; These data suggest that the TFEB/TMEM55B/JIP4 pathway coordinates lysosome movement in response to a variety of stress conditions. Publication Status: Online-Only, [RefSeq, PubMed]; Type I phosphatidylinositol-4,5-bisphosphate 4-phosphatase (type I 4-phosphatase), an enzyme that dephosphorylates phosphatidylinositol 4,5-bisphosphate (PtdIns-4,5-P(2)), forming PtdIns-5-P in vitro, can increase the cellular levels of PtdIns-5-P., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2RA35;Q86U09;Q8WUC0;Q9BU67;Q9NSU8", "ec_number_list": [ { "id": "3.1.3.78", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.78", "type": "external" } ], "go_molecular_function": "GO:0034597 phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0031902 late endosome membrane;GO:0030670 phagocytic vesicle membrane", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0008203 cholesterol metabolic process;GO:1901796 regulation of signal transduction by p53 class mediator;GO:0006644 phospholipid metabolic process;GO:0032418 lysosome localization", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "Q86T03-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XI6-1", "uniprot_id": [ { "id": "PPR3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XI6", "type": "external" } ], "mass": 32695.0, "length": 285, "protein_name": "Protein phosphatase 1 regulatory subunit 3B", "gene_name": "PPP1R3B", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 3B", "refseq_ac": [ { "id": "NP_001188258", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001188258", "type": "external" } ], "gene_names_uniprotkb": "PPP1R3B; PPP1R4", "gene_names_refseq": "GL; PPP1R3B; PPP1R4; PTG", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 3B; Hepatic glycogen-targeting protein phosphatase 1 regulatory subunit GL; PP1 subunit R4; PTG; Protein phosphatase 1 regulatory subunit 4; Protein phosphatase 1 subunit GL", "protein_names_refseq": "PP1 subunit R4; hepatic glycogen-targeting protein phosphatase 1 regulatory subunit GL; hepatic glycogen-targeting subunit, G(L); protein phosphatase 1 regulatory subunit 3B; protein phosphatase 1 regulatory subunit 4; protein phosphatase 1, regulatory (inhibitor) subunit 3B", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:79660)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "11872655;17555403;23481700;25505266;26992070;28218747;28834231;28904123;29242379;29493099;30315122;31844290;31848261;32219298;32357974;32387766;32938616;33231259;33553972;33912179;34357683;34509645;35051231;35580925;36010968", "class_list": "glycogene", "function": "A Noncoding Variant Near PPP1R3B Promotes Liver Glycogen Storage and MetS, but Protects Against Myocardial Infarction., [RefSeq, PubMed]; Acts as a glycogen-targeting subunit for phosphatase PP1. Facilitates interaction of the PP1 with enzymes of the glycogen metabolism and regulates its activity. Suppresses the rate at which PP1 dephosphorylates (inactivates) glycogen phosphorylase and enhances the rate at which it activates glycogen synthase and therefore limits glycogen breakdown. Its activity is inhibited by PYGL, resulting in inhibition of the glycogen synthase and glycogen phosphorylase phosphatase activities of PP1. Dramatically increases basal and insulin-stimulated glycogen synthesis upon overexpression in hepatocytes (By similarity)., [UniProtKB]; Genetic Variation at PPP1R3B Increases Hepatic CT Attenuation and Interacts With Prandial Status on Plasma Glucose., [RefSeq, PubMed]; Protein Phosphatase 1 Regulatory Subunit 3B Genotype at rs4240624 Has a Major Effect on Gallbladder Bile Composition. Publication Status: Online-Only, [RefSeq, PubMed]; Results suggest that in cultured human myotubes, glycogen-targeting PP1 (protein phosphatase 1) subunit G(L) (coded for by the PPP1R3B gene) is expressed as in muscle tissue and is unresponsive to glucose or insulin, as are G(M) and PTG genes. Erratum:[Biochem J. 2007 Aug 1;405(3):625], [RefSeq, PubMed]; This gene encodes the catalytic subunit of the serine/theonine phosphatase, protein phosphatase-1. The encoded protein is expressed in liver and skeletal muscle tissue and may be involved in regulating glycogen synthesis in these tissues. This gene may be a involved in type 2 diabetes and maturity-onset diabetes of the young. Alternate splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Jan 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 412, "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": "B3KTV3;Q9H812", "ec_number_list": [], "go_molecular_function": "GO:0019888 protein phosphatase regulator activity;GO:0008157 protein phosphatase 1 binding;GO:2001069 glycogen binding;GO:0050196 [phosphorylase] phosphatase activity", "go_cellular_component": "GO:0000164 protein phosphatase type 1 complex;GO:0042587 glycogen granule", "go_biological_process": "GO:0045818 negative regulation of glycogen catabolic process;GO:0005977 glycogen metabolic process;GO:0045725 positive regulation of glycogen biosynthetic process;GO:0005979 regulation of glycogen biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q86XI6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86XR5-1", "uniprot_id": [ { "id": "PRIMA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86XR5", "type": "external" } ], "mass": 16689.0, "length": 153, "protein_name": "Proline-rich membrane anchor 1", "gene_name": "PRIMA1", "organism": "Human", "refseq_name": "proline-rich membrane anchor 1 precursor", "refseq_ac": [ { "id": "NP_821092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_821092", "type": "external" } ], "gene_names_uniprotkb": "PRIMA1", "gene_names_refseq": "PRIMA1; PRIMA", "protein_names_uniprotkb": "Proline-rich membrane anchor 1; PRiMA", "protein_names_refseq": "acetylcholinesterase membrane anchor precursor PRiMA; proline-rich membrane anchor 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:145270)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11804574;16429581;16959974;19368807;22750213;26712693;26742039;27533450;28753106;30602570", "class_list": "", "function": "Methylation of SFRP1, SFRP2, SDC2, and PRIMA1 promoter sequences was observed in 85.1%, 72.3%, 89.4%, and 80.9% of plasma samples from patients with Colorectal cancer and 89.2%, 83.8%, 81.1% and 70.3% from adenoma patients, respectively., [RefSeq, PubMed]; PRIMA-1 can rescue amyloid-state p53 mutants, [RefSeq, PubMed]; PRIMA-1 could cause the demethylation of TP73, through DNMT1 depletion, to subsequently enhance the unfolded protein response, [RefSeq, PubMed]; PRiMA-Luc promotor-driven luciferase activity was increased during cell differentiation, [RefSeq, PubMed]; Required to anchor acetylcholinesterase (ACHE) to the basal lamina of the neuromuscular junction and to the membrane of neuronal synapses in brain. Also able to organize ACHE into tetramers (By similarity)., [UniProtKB]; Silencing of CD24 enhanced restoration of PRIMA-1-induced mutant p53 in endogenous TP53(P223L/V274F) DU145 cells., [RefSeq, PubMed]; The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]., [RefSeq]; The results suggest that aberrant methylation of rDNA and PRIMA1 is associated with the pathogenesis of Borderline Personality Disorder. Publication Status: Online-Only, [RefSeq, PubMed]; These results suggested that a MAP kinase signaling pathway served as one of the transcriptional regulators in controlling PRiMA gene expression during the neuronal differentiation process., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q86XR6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0070161 anchoring junction", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q86XR5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86YV5-1", "uniprot_id": [ { "id": "PRAG1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86YV5", "type": "external" } ], "mass": 149624.0, "length": 1406, "protein_name": "Inactive tyrosine-protein kinase PRAG1", "gene_name": "PRAG1", "organism": "Human", "refseq_name": "inactive tyrosine-protein kinase PRAG1", "refseq_ac": [ { "id": "NP_001074295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074295", "type": "external" } ], "gene_names_uniprotkb": "PRAG1; SGK223", "gene_names_refseq": "NACK; PEAK2; PRAG1; PRAGMIN; SGK223", "protein_names_uniprotkb": "Inactive tyrosine-protein kinase PRAG1; PEAK1-related kinase-activating pseudokinase 1; Pragmin; SgK223; Sugen kinase 223", "protein_names_refseq": "PEAK family member 2; Pragmin, RND2 effector protein; homolog of rat pragma of Rnd2; inactive tyrosine-protein kinase PRAG1; sugen kinase 223; tyrosine-protein kinase PRAG1; tyrosine-protein kinase SgK223", "tax_id": 9606, "disease": "", "pathway": " (hsa:157285); (R-HSA-9696270)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10664463;11940653;12244061;12471243;12842009;14732713;15738000;16481321;17344846;18669648;18996843;19136556;19690332;20811643;21406692;21873224;23186163;23481700;24275569;24690281;24715725;25576301;25888806;26375851;26969432;26992070;27116701;29079850;29503074;29557506;31844290;31871319;32157095;32387766;32488085;32502341;32938616;32983136;33298915;33936100;33968037;33981976;34171305;35051231;35059869;35580925;36010968;36241641;37958966", "class_list": "", "function": "Also known as SgK223, a member of the NKF3 subfamily of eukaryotic protein kinases. Review article, [RefSeq, PubMed]; Analysis of how the kinase fold mediates non-catalytic functions in SgK223 Publication Status: Online-Only, [RefSeq, PubMed]; Candidate Genes for IgA Nephropathy in Pediatric Patients: Exome-Wide Association Study. Publication Status: Online-Only, [RefSeq, PubMed]; Catalytically inactive protein kinase that acts as a scaffold protein. Functions as an effector of the small GTPase RND2, which stimulates RhoA activity and inhibits NGF-induced neurite outgrowth (By similarity). Promotes Src family kinase (SFK) signaling by regulating the subcellular localization of CSK, a negative regulator of these kinases, leading to the regulation of cell morphology and motility by a CSK-dependent mechanism (By similarity). Acts as a critical coactivator of Notch signaling (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; It was discovered that pseudo-kinase pragmin uses the tyrosine kinase CSK to induce protein tyrosine phosphorylation in human cells. Erratum:[Structure. 2018 Nov 6;26(11):1563. doi: 10.1016/j.str.2018.10.020. PMID: 30403993], [RefSeq, PubMed]; Pragmin as a mammalian EPIYA effector and suggests that bacterial EPIYA effectors target Pragmin to subvert SFKs for successful infection., [RefSeq, PubMed]; Rnd2 regulates neurite outgrowth by functioning as the RhoA activator through Pragmin, in contrast to Rnd1 and Rnd3 inhibiting RhoA signaling, [RefSeq, PubMed]; The inhibition of Panc1 cancer cells invasion by hAMSCs secretome through suppression of tyrosine phosphorylation of SGK223 (at Y411 site), c-Src (at Y416, Y530 sites), AKT activity, and JAK1/Stat3 signaling. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an enzyme that belongs to the tyrosine protein kinase family. A similar protein in rat binds to Rho family GTPase 2 (Rnd2) and regulates neurite outgrowth via activation of Ras homolog gene family, member A (RhoA). [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": 8, "reported_mutagensis": 8, "reported_glycation": 0, "reported_snv": 38, "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": "Q8N3N5", "ec_number_list": [], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0042802 identical protein binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0016477 cell migration;GO:2000145 regulation of cell motility;GO:0010977 negative regulation of neuron projection development;GO:0035025 positive regulation of Rho protein signal transduction;GO:0008360 regulation of cell shape", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q86YV5-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYP2-1", "uniprot_id": [ { "id": "PRS58_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYP2", "type": "external" } ], "mass": 27085.0, "length": 241, "protein_name": "Serine protease 58", "gene_name": "PRSS58", "organism": "Human", "refseq_name": "serine protease 58 precursor", "refseq_ac": [ { "id": "NP_001001317", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001317", "type": "external" } ], "gene_names_uniprotkb": "PRSS58; PRO6090; TRY1; TRYX3", "gene_names_refseq": "PRSS58; TRY1; TRYX3; UNQ2540", "protein_names_uniprotkb": "Serine protease 58; 3.4.21.4; Trypsin-X3", "protein_names_refseq": "protease, serine 58; serine protease 58 precursor; trypsin-X3", "tax_id": 9606, "disease": "", "pathway": " (hsa:136541)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "12975309;16751668", "class_list": "", "function": "This gene encodes a member of the trypsin family of serine proteases. This gene and several related trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. This gene was previously described as a trypsinogen-like pseudogene, but it is now thought to be a protein-coding gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "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": "B3KVJ6;D3DXD2", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0030141 secretory granule", "go_biological_process": "GO:0006508 proteolysis;GO:0051604 protein maturation;GO:2000243 positive regulation of reproductive process", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8IYP2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N3Z0-1", "uniprot_id": [ { "id": "PRS35_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N3Z0", "type": "external" } ], "mass": 47098.0, "length": 413, "protein_name": "Inactive serine protease 35", "gene_name": "PRSS35", "organism": "Human", "refseq_name": "inactive serine protease 35 precursor", "refseq_ac": [ { "id": "NP_001163894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001163894", "type": "external" } ], "gene_names_uniprotkb": "PRSS35; C6orf158; PRO1057", "gene_names_refseq": "C6orf158; PRSS35; dJ223E3.1", "protein_names_uniprotkb": "Inactive serine protease 35", "protein_names_refseq": "inactive serine protease 35 precursor; inactive serine protease 35; protease, serine 35", "tax_id": 9606, "disease": "", "pathway": " (hsa:167681)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10.1101/2023.09.13.557529;12975309;16870946;20511563;20877624;30379171;32350084;32938616;33537174;35051231;35251023", "class_list": "", "function": "Mouse ortholog of human PRSS35 is an ovary-selectively expressed gene., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; We provide further evidence of the involvement of chromosome 6q in cleft lip/palate and suggest PRSS35 as a novel candidate gene. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 32, "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": "A8K7B3;Q9BQP6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q8N3Z0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8Z3-1", "uniprot_id": [ { "id": "PRR26_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8Z3", "type": "external" } ], "mass": 24207.0, "length": 221, "protein_name": "Putative uncharacterized protein DIP2C-AS1", "gene_name": "DIP2C-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "DIP2C-AS1; C10orf108; PRR26", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein DIP2C-AS1; DIP2C antisense RNA 1; Proline-rich protein 26", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "32488085", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q8N8Z3-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAP8-1", "uniprot_id": [ { "id": "PPR35_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAP8", "type": "external" } ], "mass": 27953.0, "length": 253, "protein_name": "Protein phosphatase 1 regulatory subunit 35", "gene_name": "PPP1R35", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 35 isoform 1", "refseq_ac": [ { "id": "NP_659467", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659467", "type": "external" } ], "gene_names_uniprotkb": "PPP1R35; C7orf47", "gene_names_refseq": "C7orf47; PPP1R35", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 35", "protein_names_refseq": "UPF0683 protein C7orf47; protein phosphatase 1 regulatory subunit 35 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:221908)", "pathway_count": 1, "publication_count": 42, "publication_id_list": "16112985;18669648;18691976;19389623;19413330;19690332;20068231;23186163;23481700;24715725;26992070;27397612;27846572;27920218;28228285;28832583;29242379;29493099;29508533;29557506;30168418;30230954;30429286;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33691108;33936100;33968037;34171305;34211107;34509645;34561969;35051231;35561310", "class_list": "", "function": "Authors found that PPP1R35 is enriched at newborn daughter centrioles in S or G2 phase. In the absence of PPP1R35, centriole assembly initiates normally in S phase, but none of the nascent centrioles can form active centrosomes or recruit CEP295, an essential factor for CCC., [RefSeq, PubMed]; Data show that PPP1R35 acts downstream of, and forms a complex with, RTTN, a microcephaly protein required for distal centriole elongation. Publication Status: Online-Only, [RefSeq, PubMed]; During centriole duplication, plays a role in the centriole elongation by promoting the recruitment of the microtubule-binding elongation machinery through its interaction with RTTN, leading to the centriole to centrosome conversion (PubMed:30168418, PubMed:30230954). In addition, may play a role in the primary cilia assembly (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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "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": "A4D2C5", "ec_number_list": [], "go_molecular_function": "GO:0004864 protein phosphatase inhibitor activity;GO:0019902 phosphatase binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005814 centriole", "go_biological_process": "GO:0048570 notochord morphogenesis;GO:0045724 positive regulation of cilium assembly;GO:1903724 positive regulation of centriole elongation", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q8TAP8-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TB68-1", "uniprot_id": [ { "id": "PRR7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TB68", "type": "external" } ], "mass": 30930.0, "length": 274, "protein_name": "Proline-rich protein 7", "gene_name": "PRR7", "organism": "Human", "refseq_name": "proline-rich protein 7", "refseq_ac": [ { "id": "NP_001167572", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167572", "type": "external" } ], "gene_names_uniprotkb": "PRR7", "gene_names_refseq": "PRR7", "protein_names_uniprotkb": "Proline-rich protein 7; Synaptic proline-rich membrane protein", "protein_names_refseq": "proline-rich protein 7; synaptic proline-rich membrane protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:80758)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11237011;21460222;25576301;25880248;26375851;26992070;27458189;27846572;28228285;28832583;28834231;29242379;29493099;29508533;29557506;30315122;30379171;30779550;31020640;31222486;31844290;32157095;32161166;32357974;33298915;33717175;33968037;33981976;34561969;35154160;35580925;36010968;36241641;36284347", "class_list": "", "function": "Acts as a synapse-to-nucleus messenger to promote NMDA receptor-mediated excitotoxicity in neurons in a JUN-dependent manner (By similarity). Inhibits ubiquitination-mediated degradation and promotes phosphorylation and transcriptional activity of transcription factor JUN (PubMed:27458189). Might play a redundant role in the regulation of T cell receptor signaling (PubMed:21460222). Might promote apoptosis in T cells (PubMed:21460222)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed]; PRR7 is a potential regulator of signaling and apoptosis in activated T cells., [RefSeq, PubMed]; The authors find that PRR7 inhibits the ubiquitination of c-Jun by E3 ligase SCF(FBW) (7) (FBW7), increases c-Jun-dependent transcriptional activity, and promotes neuronal 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": 1, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q8WU53;Q9BTA7", "ec_number_list": [], "go_molecular_function": "GO:0036041 long-chain fatty acid binding;GO:0044877 protein-containing complex binding;GO:0044389 ubiquitin-like protein ligase binding;GO:1990782 protein tyrosine kinase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0043065 positive regulation of apoptotic process;GO:0002250 adaptive immune response;GO:0030217 T cell differentiation;GO:0006356 regulation of transcription by RNA polymerase I;GO:0099527 postsynapse to nucleus signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q8TB68-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVI7-1", "uniprot_id": [ { "id": "PPR1C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVI7", "type": "external" } ], "mass": 12346.0, "length": 109, "protein_name": "Protein phosphatase 1 regulatory subunit 1C", "gene_name": "PPP1R1C", "organism": "Human", "refseq_name": "protein phosphatase 1 regulatory subunit 1C isoform 2", "refseq_ac": [ { "id": "NP_001074014", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074014", "type": "external" } ], "gene_names_uniprotkb": "PPP1R1C", "gene_names_refseq": "IPP5; PPP1R1C", "protein_names_uniprotkb": "Protein phosphatase 1 regulatory subunit 1C; IPP5; Inhibitor-5 of protein phosphatase 1", "protein_names_refseq": "PP1 inhibitor protein 5; inhibitor-5 of protein phosphatase 1; protein phosphatase 1 regulatory subunit 1A; protein phosphatase 1 regulatory subunit 1C isoform 2; protein phosphatase 1 regulatory subunit 1C", "tax_id": 9606, "disease": "", "pathway": " (hsa:151242)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "18310074;19139490;19874272;22939397;24935604;25339026;29557506", "class_list": "", "function": "IPP5 mutations are associated with response to paclitaxel in cervical cancer., [RefSeq, PubMed]; May increase cell susceptibility to TNF-induced apoptosis., [UniProtKB, PubMed]; Overexpression of active mutant IPP5 inhibited anchorage-dependent growth and induced apoptosis in HeLa cells, which may be attributed to the up-regulation of p21, p53 and Bcl-2-antagonist/killer, and down-regulation of Bcl-2 and Bcl-X(L). Publication Status: Online-Only, [RefSeq, PubMed]; Protein phosphatase-1 (PP1) is a major serine/threonine phosphatase that regulates a variety of cellular functions. PP1 consists of a catalytic subunit (see PPP1CA; MIM 176875) and regulatory subunits that determine the subcellular localization of PP1 or regulate its function. PPP1R1C belongs to a group of PP1 inhibitory subunits that are themselves regulated by phosphorylation (Wang et al., 2008 [PubMed 18310074]).[supplied by OMIM, Feb 2010]., [RefSeq]; The data demonstrate a novel role for 8-60hIPP5(m) in the control of G2/M cell cycle progression, a process that involves the activation of ATM/p53/p21cip1/waf1/Cdc2/ cyclin B1 pathways., [RefSeq, PubMed]; The effect of IPP5 on tumor growth and the underlying molecular mechanisms were investigated by overexpression of IPP5 in HeLa cells, a human cervical carcinoma cell line., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q5HYJ5;Q8TD54", "ec_number_list": [], "go_molecular_function": "GO:0004864 protein phosphatase inhibitor activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8WVI7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96I23-1", "uniprot_id": [ { "id": "PREY_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96I23", "type": "external" } ], "mass": 12655.0, "length": 114, "protein_name": "Protein preY, mitochondrial", "gene_name": "PYURF", "organism": "Human", "refseq_name": "protein preY, mitochondrial precursor", "refseq_ac": [ { "id": "NP_116295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116295", "type": "external" } ], "gene_names_uniprotkb": "PYURF; NDUFAFQ; PREY", "gene_names_refseq": "NDUFAFQ; PREY; PYURF", "protein_names_uniprotkb": "Protein preY, mitochondrial; PIGY upstream reading frame protein", "protein_names_refseq": "NADH:ubiquinone oxidoreductase complex assembly factor Q; PIGY upstream reading frame protein; protein preY, mitochondrial precursor; protein preY, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:100996939); (R-HSA-6799198)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "11220739;16162815;17936786;19752196;20406883;20552642;20858599;21924235;23553477;24191001;25678554;25880248;26992070;27499296;27626371;28904123;31666358;31844290;31866046;32320651;32357974;32897882;33298915;33879611;33882309;33912179;35333655;35614220;38199007;9571201", "class_list": "", "function": "In mitochondria, S-adenosylmethionine-dependent methyltransferase chaperone that supports both coenzyme Q biosynthesis, by stabilizing its components, such as COQ5, and NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) assembly, by stabilizing complex I assembly factors, such as NDUFAF5., [UniProtKB, PubMed]; The product of this gene, which is well-conserved, is encoded by the same bicistronic transcript that encodes phosphatidylinositol glycan anchor biosynthesis, class Y, but the two proteins are unrelated. This gene represents the protein encoded by the upstream open reading frame, while the protein encoded by the downstream open reading frame is represented by GeneID:84992. [provided by RefSeq, Aug 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "B2R571", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0050821 protein stabilization", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q96I23-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MI6-5", "uniprot_id": [ { "id": "PPM1M_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MI6", "type": "external" } ], "mass": 51136.0, "length": 459, "protein_name": "Protein phosphatase 1M", "gene_name": "PPM1M", "organism": "Human", "refseq_name": "protein phosphatase 1M isoform b", "refseq_ac": [ { "id": "NP_001116342", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116342", "type": "external" } ], "gene_names_uniprotkb": "PPM1M; PPM1E", "gene_names_refseq": "PP2C-eta; PP2CE; PP2Ceta; PPM1M", "protein_names_uniprotkb": "Protein phosphatase 1M; 3.1.3.16; PP2C-eta; PP2CE; Protein phosphatase 2C isoform eta", "protein_names_refseq": "protein phosphatase 1M (PP2C domain containing); protein phosphatase 1M isoform b; protein phosphatase 2C eta-2", "tax_id": 9606, "disease": "", "pathway": " (hsa:132160)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "19594441;25418920;25505266;25645385;28832583;28871256;29242379;29393594;30315122;31848261;32502341;32783359;36961170;39894887", "class_list": "", "function": "Exploring the immunological role and prognostic potential of PPM1M in pan-cancer., [RefSeq, PubMed]; Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis., [RefSeq, PubMed]; PP2Ceta-2 inhibits the IL-1-NF-kappaB signalling pathway by selectively dephosphorylating IKKbeta. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B7XGB9;F8W976;Q8N8J9;Q96DB8", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0004741 [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase activity;GO:0030145 manganese ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005739 mitochondrion", "go_biological_process": "GO:0006470 protein dephosphorylation", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q96MI6-5", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96NZ9-1", "uniprot_id": [ { "id": "PRAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96NZ9", "type": "external" } ], "mass": 17208.0, "length": 151, "protein_name": "Proline-rich acidic protein 1", "gene_name": "PRAP1", "organism": "Human", "refseq_name": "proline-rich acidic protein 1 isoform 2 precursor", "refseq_ac": [ { "id": "NP_001138673", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138673", "type": "external" } ], "gene_names_uniprotkb": "PRAP1; PRO1195; UPA", "gene_names_refseq": "PRAP1; PRO1195; UPA", "protein_names_uniprotkb": "Proline-rich acidic protein 1; Epididymis tissue protein Li 178; Uterine-specific proline-rich acidic protein", "protein_names_refseq": "epididymis secretory sperm binding protein; epididymis tissue protein Li 178; proline-rich acidic protein 1 isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:118471)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;12975309;14583459;20736409;23235459;23399548;23584533;24374861;25813380;27862975;29557506;29789417;29886035;30429286;30459171;31154438;32629119;35580925", "class_list": "", "function": "ATF3 and PRAP1 play important roles in cisplatin-induced DNA damage repair process., [RefSeq, PubMed]; Induction of PRAP1 expression by p53 in response to DNA-damaging agents contributes to cancer cell survival. Publication Status: Online-Only, [RefSeq, PubMed]; Lipid-binding protein which promotes lipid absorption by facilitating MTTP-mediated lipid transfer (mainly triglycerides and phospholipids) and MTTP-mediated apoB lipoprotein assembly and secretion (By similarity). Protects the gastrointestinal epithelium from irradiation-induced apoptosis (By similarity). May play an important role in maintaining normal growth homeostasis in epithelial cells (PubMed:14583459). Involved in p53/TP53-dependent cell survival after DNA damage (PubMed:23235459). May down-regulate the expression of MAD1L1 and exert a suppressive role in mitotic spindle assembly checkpoint in hepatocellular carcinomas (PubMed:24374861)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed]; PRAP1 is a protein interacting partner of MAD1 and that PRAP1 is able to down-regulate MAD1 and suppress mitotic checkpoint signalling in hepatocellular carcinoma., [RefSeq, PubMed]; Proline-Rich Acidic Protein 1 (PRAP1) Protects the Gastrointestinal Epithelium From Irradiation-Induced Apoptosis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 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": 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": 9, "binding_glycan_count": 0, "secondary_ac_list": "B7ZL57;B7ZL58;E9KL31;Q5VWY4;Q7Z4X5;Q8IWR3;Q8NCS2", "ec_number_list": [], "go_molecular_function": "GO:0017129 triglyceride binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum", "go_biological_process": "GO:1902426 deactivation of mitotic spindle assembly checkpoint;GO:0043066 negative regulation of apoptotic process;GO:0006974 DNA damage response;GO:0030330 DNA damage response, signal transduction by p53 class mediator;GO:0071481 cellular response to X-ray", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q96NZ9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99436-1", "uniprot_id": [ { "id": "PSB7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99436", "type": "external" } ], "mass": 29965.0, "length": 277, "protein_name": "Proteasome subunit beta type-7", "gene_name": "PSMB7", "organism": "Human", "refseq_name": "proteasome subunit beta type-7 precursor", "refseq_ac": [ { "id": "NP_002790", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002790", "type": "external" } ], "gene_names_uniprotkb": "PSMB7; Z", "gene_names_refseq": "PSMB7", "protein_names_uniprotkb": "Proteasome subunit beta type-7; 3.4.25.1; Macropain chain Z; Multicatalytic endopeptidase complex chain Z; Proteasome subunit Z; Proteasome subunit beta-2; beta-2", "protein_names_refseq": "beta-2; epididymis secretory sperm binding protein; macropain chain Z; multicatalytic endopeptidase complex chain Z; proteasome (prosome, macropain) subunit, beta type, 7; proteasome catalytic subunit 2; proteasome subunit Z; proteasome subunit alpha; proteasome subunit beta 7; proteasome subunit beta type-7 precursor; proteasome subunit beta type-7; proteasome subunit beta-2; proteasome subunit beta2; protein serine kinase c17", "tax_id": 9606, "disease": "Omenn syndrome (Disease Ontology:DOID:0060010)", "pathway": " (hsa:5695); (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-9912633); (R-HSA-9929356); (R-HSA-9929491); (R-HSA-9931269); (R-HSA-9932298); (R-HSA-9954709); (R-HSA-9958825)", "pathway_count": 70, "publication_count": 1048, "publication_id_list": 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"class_list": "", "function": "Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Within the 20S core complex, PSMB7 displays a trypsin-like activity., [UniProtKB, PubMed, PubMed, PubMed]; Component of the proteasome, a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity., [UniProtKB, UniProtKB]; The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Expression of this catalytic subunit is downregulated by gamma interferon, and proteolytic processing is required to generate a mature subunit. A pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Jul 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 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{ "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "5.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.1.6", "type": "external" }, { "id": "3.6.5.-", "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": "3.1.6.14", "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": "3.1.3.48", "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": "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": "2.7.11.26", "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": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "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": "3.1.3.67", "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": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "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": "2.3.2.5", "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": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "1.14.11.29", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.29", "type": "external" }, { "id": "1.14.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.11.-", "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:0004175 endopeptidase activity;GO:0004298 threonine-type endopeptidase activity", "go_cellular_component": "GO:0034515 proteasome storage granule;GO:0019774 proteasome core complex, beta-subunit complex;GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0071357 cellular response to type I interferon;GO:0006281 DNA repair;GO:0006979 response to oxidative stress;GO:0007283 spermatogenesis;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 105.1, "record_id": "Q99436-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HAZ2-1", "uniprot_id": [ { "id": "PRD16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HAZ2", "type": "external" } ], "mass": 140251.0, "length": 1276, "protein_name": "Histone-lysine N-methyltransferase PRDM16", "gene_name": "PRDM16", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase PRDM16 isoform 1", "refseq_ac": [ { "id": "NP_071397", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071397", "type": "external" } ], "gene_names_uniprotkb": "PRDM16; KIAA1675; MEL1; PFM13", "gene_names_refseq": "CMD1LL; KMT8F; LVNC8; MEL1; PFM13; PRDM16", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase PRDM16; 2.1.1.367; MDS1/EVI1-like gene 1; PR domain zinc finger protein 16; PR domain-containing protein 16; Transcription factor MEL1", "protein_names_refseq": "MDS1/EVI1-like gene 1; PR domain 16; PR domain containing 16; PR domain zinc finger protein 16; histone-lysine N-methyltransferase PRDM16 isoform 1; histone-lysine N-methyltransferase PRDM16; transcription factor MEL1", "tax_id": 9606, "disease": "left ventricular noncompaction (Disease Ontology:DOID:0060480); dilated cardiomyopathy 1LL (Disease Ontology:DOID:0081157)", "pathway": " (hsa:63976); (R-HSA-3214841); (R-HSA-9844594)", "pathway_count": 3, "publication_count": 60, "publication_id_list": "10.1101/2023.09.13.557529;10949293;11050005;11237011;11959841;12123582;12130538;12453418;12540855;12557231;12670868;12816872;14536086;14656887;14690610;14992727;15145825;15235609;15964846;16118227;16199523;16292313;16519522;16682010;16805913;17021013;17500065;17544230;17707229;18172012;19049980;19808676;21131967;21196496;21779408;21832073;22099308;22939622;23768516;25578880;27535533;28228285;28832583;30192525;30379171;30462309;31154438;31844290;31848261;32157095;32387766;35051231;35580925;36010968;37602452;37938771;38072665;38113297;39286266;39351529", "class_list": "", "function": "A PRDM16-driven signal regulates body composition in testosterone-treated hypogonadal men. Publication Status: Online-Only, [RefSeq, PubMed]; Binds DNA and functions as a transcriptional regulator (PubMed:12816872). Functions as a repressor of TGF-beta signaling (PubMed:14656887). May regulate granulocyte differentiation (PubMed:12816872)., [UniProtKB, PubMed, PubMed]; Breakpoints occurring in the first intron and in the 5' region of the MEL1 gene associated with the t(1;3)(p36;q21) translocation have been found in three myelodysplastic syndrome/acute myelogenous leukemia patients., [RefSeq, PubMed]; Directly targeting PRDM16 in thermogenic adipose tissue to treat obesity and its related metabolic diseases. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Discovery of PRDM16-Mediated TRPA1 Induction as the Mechanism for Low Tubulo-Interstitial Fibrosis in Diabetic Kidney Disease., [RefSeq, PubMed]; Long Noncoding RNA MAGI2-AS3 Represses Cell Progression in Clear Cell Renal Cell Carcinoma by Modulating the miR-629-5p/PRDM16 Axis., [RefSeq, PubMed]; Nonsense Variant PRDM16-Q187X Causes Impaired Myocardial Development and TGF-beta Signaling Resulting in Noncompaction Cardiomyopathy in Humans and Mice., [RefSeq, PubMed]; Structure, expression pattern, and function of MEL1 in leukemia cells; overexpression of the zinc finger protein lacking the PR domain (EVI1 and MEL1S)is likely one of the causative factors in the pathogenesis of myeloid leukemia., [RefSeq, PubMed]; The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription regulator that acts both as a histone methyltransferase or chromatin adapter, depending on the context (PubMed:12816872). In the cytoplasm, acts as a histone methyltransferase, which catalyzes monomethylation of 'Lys-9' of free histone H3 (H3K9me1) during translation (By similarity). Monomethylated histone H3 is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases (SUV39H1 and SUV39H2) use it as a substrate to catalyze histone H3 'Lys-9' trimethylation (H3K9me3) (By similarity). Probably one of the primary histone methyltransferases along with MECOM/PRDM3 that direct cytoplasmic H3K9me1 methylation (By similarity). In the nucleus, acts as a key chromatin adapter that mediates differentiation of brown and beige adipocytes, which are specialized in dissipating chemical energy in the form of heat in response to cold or excess feeding (By similarity). Following recruitment to chromatin by PPARG nuclear receptor, promotes differentiation of myoblastic precursors into brown adipose cells (By similarity). Mechanistically, acts by mediating recruitment of (1) EHMT1 histone methyltransferase, thereby inhibiting the expression of white adipose-selective genes or (2) mediator complex, activating genes that are highly expressed in brown adipocytes, such as UCP1, PPARA, and PPARGC1A (By similarity). Also mediates differentiation of beige adipocytes from white adipose cells following recruitment by PPARG (By similarity). In addition to adipocyte differentiation, also involved in tolerance to gut microbiota: following recruitment to chromatin by RORgammaT (RORC) in a subset of antigen-presenting cells, promotes differentiation of peripherally-induced regulatory T-cells (pTreg), which suppress inflammatory responses to commensal microorganisms (By similarity). Also required in adult heart to preserve mitochondrial function and inhibit hypertrophy with advanced age (By similarity). Functions as a repressor of TGF-beta signaling (PubMed:19049980)., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 54, "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": "A6NHQ8;B1AJP7;B1AJP8;B1AJP9;B1WB48;Q8WYJ9;Q9C0I8", "ec_number_list": [ { "id": "2.1.1.367", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.367", "type": "external" }, { "id": "2.1.1.366", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.366", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" }, { "id": "2.1.1.359", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.359", "type": "external" } ], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding;GO:0003714 transcription corepressor activity;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0017053 transcription repressor complex", "go_biological_process": "GO:0043457 regulation of cellular respiration;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:0050873 brown fat cell differentiation", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q9HAZ2-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQV6-3", "uniprot_id": [ { "id": "PRD10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQV6", "type": "external" } ], "mass": 130136.0, "length": 1147, "protein_name": "PR domain zinc finger protein 10", "gene_name": "PRDM10", "organism": "Human", "refseq_name": "PR domain zinc finger protein 10 isoform 1", "refseq_ac": [ { "id": "NP_064613", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064613", "type": "external" } ], "gene_names_uniprotkb": "PRDM10; KIAA1231; PFM7; TRIS", "gene_names_refseq": "BHD2; PFM7; PRDM10; TRIS", "protein_names_uniprotkb": "PR domain zinc finger protein 10; PR domain-containing protein 10; Tristanin", "protein_names_refseq": "PR domain 10; PR domain containing 10; PR domain zinc finger protein 10 isoform 1; PR domain zinc finger protein 10; PR domain-containing protein 10; PR-domain family member 7; PRDM zinc finger transcription factor; tristanin", "tax_id": 9606, "disease": "Birt-Hogg-Dube syndrome (Disease Ontology:DOID:0050676); Birt-Hogg-Dube syndrome 2 (MONDO:MONDO:0800455)", "pathway": " (hsa:56980)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "10668202;12175877;17525332;19773279;20068231;20095854;21406692;23186163;24714562;25516889;25576301;25880248;26811146;26992070;27600516;28228285;28832583;28904123;29242379;29351928;29557506;29632711;30192525;30315122;30524438;31217245;31313299;31844290;32157095;32357974;32502341;32897882;32938616;32983136;33592498;33912179;33981976;34019948;34171305;34932366;35051231;35580925;36010968;36241641;36284347;36440963;36812381;37331486;37566921;39531497;40596516", "class_list": "", "function": "Autophagy-related LncRNA PRDM10-DT responds to UVB radiation in keratinocytes., [RefSeq, PubMed]; Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Our results suggest that PRDM10 fusions are present in around 5% of Undifferentiated pleomorphic sarcoma, [RefSeq, PubMed]; PRDM10 RCC: A Birt-Hogg-Dube-like Syndrome Associated With Lipoma and Highly Penetrant, Aggressive Renal Tumors Morphologically Resembling Type 2 Papillary Renal Cell Carcinoma., [RefSeq, PubMed]; PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dube syndrome and familial lipomatosis., [RefSeq, PubMed]; PRDM10-fusions represent the critical driver mutations in undifferentiated pleomorphic sarcomas., [RefSeq, PubMed]; Recurrent PRDM10 Fusions in Superficial CD34-Positive Fibroblastic Tumors : A Clinicopathologic and Molecular Study of 10 Additional Cases of an Emerging Novel Entity., [RefSeq, PubMed]; The protein encoded by this gene is a transcription factor that contains C2H2-type zinc-fingers. It also contains a positive regulatory domain, which has been found in several other zinc-finger transcription factors including those involved in B cell differentiation and tumor suppression. Studies of the mouse counterpart suggest that this protein may be involved in the development of the central nerve system (CNS), as well as in the pathogenesis of neuronal storage disease. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional activator, essential for early embryonic development and survival of embryonic stem cells (ESCs) (By similarity). Supports cell growth and survival during early development by transcriptionally activating the expression of the translation initiation factor EIF3B, to sustain global translation (By similarity). Activates the transcription of FLNC (PubMed:36440963)., [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": 1, "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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 21, "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": "B7ZL71;G3XAE5;J3KP23;Q17R90;Q2KHR4;Q863Z2;Q9NXI4;Q9ULI9", "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_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0017053 transcription repressor complex;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q9NQV6-3", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQW5-3", "uniprot_id": [ { "id": "PRDM7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQW5", "type": "external" } ], "mass": 55777.0, "length": 492, "protein_name": "Histone-lysine N-methyltransferase PRDM7", "gene_name": "PRDM7", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase PRDM7", "refseq_ac": [ { "id": "NP_001091643", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001091643", "type": "external" } ], "gene_names_uniprotkb": "PRDM7; PFM4", "gene_names_refseq": "PFM4; PRDM7; ZNF910", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase PRDM7; 2.1.1.-; PR domain zinc finger protein 7; PR domain-containing protein 7; [histone H3]-lysine4 N-methyltransferase PRDM7", "protein_names_refseq": "PR domain 7; PR domain containing 7; PR domain zinc finger protein 7; PR-domain family protein 4; [histone H3]-lysine4 N-methyltransferase PRDM7; histone-lysine N-methyltransferase PRDM7; probable histone-lysine N-methyltransferase PRDM7", "tax_id": 9606, "disease": "", "pathway": " (hsa:11105); (R-HSA-212436)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10235266;10330177;10668202;11395415;14519192;14759258;15175151;15896744;16606702;16719718;17916234;18231586;2163759;27129774;29557506;29789417;34087483;35051231;8183939;8769649;9637681;9653119", "class_list": "", "function": "Evolutionary analysis suggests that human PRDM7 and PRDM9 genes, a pair of close paralogs corresponding to a single mouse gene Prdm9, were generated by a recent gene duplication event after the divergence of the ancestors of human and mouse. Publication Status: Online-Only, [RefSeq, PubMed]; Histone methyltransferase that selectively methylates 'Lys-4' of dimethylated histone H3 (H3K4me2) to produce trimethylated 'Lys-4' histone H3 (H3K4me3). May play a role in epigenetic regulation of gene expression by defining an active chromatin state., [UniProtKB, PubMed]; These studies indicate that after a single serine to tyrosine mutation at residue 357 (S357Y), PRDM7 regains the substrate specificities and catalytic activities similar to its evolutionary predecessor, including the ability to efficiently methylate H3K36., [RefSeq, PubMed]; This gene encodes a member of a family of proteins that may have roles in transcription and other nuclear processes. The encoded protein contains a KRAB (Kruppel-associated box) domain -A box and a SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain and may function as a histone methyltransferase. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 3, "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": "A4Q9G8;Q08EM4;Q9NQW4", "ec_number_list": [ { "id": "2.1.1.364", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.364", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0042800 histone H3K4 methyltransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005694 chromosome", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q9NQW5-3", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRI7-1", "uniprot_id": [ { "id": "PPY2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRI7", "type": "external" } ], "mass": 2179.0, "length": 21, "protein_name": "Putative pancreatic polypeptide 2", "gene_name": "PPY2P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PPY2P; PPY2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative pancreatic polypeptide 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "10756099", "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": "Q9NRI7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A096LP55-1", "uniprot_id": [ { "id": "QCR6L_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A096LP55", "type": "external" } ], "mass": 10752.0, "length": 91, "protein_name": "Cytochrome b-c1 complex subunit 6-like, mitochondrial", "gene_name": "UQCRHL", "organism": "Human", "refseq_name": "cytochrome b-c1 complex subunit 6-like, mitochondrial", "refseq_ac": [ { "id": "NP_001083060", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001083060", "type": "external" } ], "gene_names_uniprotkb": "UQCRHL", "gene_names_refseq": "UQCRHL; hCG25371", "protein_names_uniprotkb": "Cytochrome b-c1 complex subunit 6-like, mitochondrial", "protein_names_refseq": "cytochrome b-c1 complex subunit 6-like, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:440567); (R-HSA-9865881)", "pathway_count": 2, "publication_count": 17, "publication_id_list": "21278747;23168492;24385928;25008109;25605331;28380382;28673544;28844695;29243944;29493099;29557506;31611695;31844290;32350084;32929120;34357683;34969438", "class_list": "", "function": "May be a component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is part of the mitochondrial respiratory chain. This protein may mediate formation of the complex between cytochromes c and c1., [UniProtKB, UniProtKB]; This gene has characteristics of a pseudogene derived from the UQCRH gene. However, there is still an open reading frame that could produce a protein of the same or nearly the same size as that of the UQCRH gene, so this gene is being called protein-coding for now. [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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0045275 respiratory chain complex III", "go_biological_process": "GO:0006122 mitochondrial electron transport, ubiquinol to cytochrome c", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "A0A096LP55-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D1S5-1", "uniprot_id": [ { "id": "RAB19_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D1S5", "type": "external" } ], "mass": 24400.0, "length": 217, "protein_name": "Ras-related protein Rab-19", "gene_name": "RAB19", "organism": "Human", "refseq_name": "ras-related protein Rab-19", "refseq_ac": [ { "id": "NP_001008749", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008749", "type": "external" } ], "gene_names_uniprotkb": "RAB19; RAB19B", "gene_names_refseq": "RAB19B; RAB19", "protein_names_uniprotkb": "Ras-related protein Rab-19; 3.6.5.2", "protein_names_refseq": "GTP-binding protein RAB19B; ras-related protein Rab-19", "tax_id": 9606, "disease": "", "pathway": " (hsa:401409); (R-HSA-8873719)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "11141079;11389151;11447212;11675392;16401880;1648736;17114793;17411337;18532927;19603039;22694141;24023390;25341920;26969162;27452731;28832583;29242379;31844290;32357974;34288797;36010968;37635409;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8836150", "class_list": "", "function": "N6-methyladenosine (m6A)-mediated up-regulation of long noncoding RNA LINC01320 promotes the proliferation, migration, and invasion of gastric cancer via miR495-5p/RAB19 axis., [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., [UniProtKB, UniProtKB]; WDR38, a novel equatorial segment protein, interacts with the GTPase protein RAB19 and Golgi protein GM130 to play roles in acrosome biogenesis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A4D1S6;B2RTS6;B5MDR2;Q9UL27", "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:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0012505 endomembrane system", "go_biological_process": "GO:0000045 autophagosome assembly;GO:0006886 intracellular protein transport", "synthesized_glycan_count": 0, "hit_score": 3.2, "record_id": "A4D1S5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NC62-1", "uniprot_id": [ { "id": "RAKDN_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NC62", "type": "external" } ], "mass": 8119.0, "length": 81, "protein_name": "RBAK downstream neighbor protein", "gene_name": "RBAKDN", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RBAKDN", "gene_names_refseq": "", "protein_names_uniprotkb": "RBAK downstream neighbor protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "11237011", "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": "Q8N0T3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NC62-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B2RC85-1", "uniprot_id": [ { "id": "R10B2_HUMAN", "url": "https://www.uniprot.org/uniprot/B2RC85", "type": "external" } ], "mass": 100547.0, "length": 870, "protein_name": "Radial spoke head 10 homolog B2", "gene_name": "RSPH10B2", "organism": "Human", "refseq_name": "radial spoke head 10 homolog B2", "refseq_ac": [ { "id": "NP_001093167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093167", "type": "external" } ], "gene_names_uniprotkb": "RSPH10B2", "gene_names_refseq": "RSPH10B2", "protein_names_uniprotkb": "Radial spoke head 10 homolog B2", "protein_names_refseq": "radial spoke head 10 homolog B2", "tax_id": 9606, "disease": "", "pathway": " (hsa:222967); (hsa:728194)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "11237011;19664994;29393594;29557506;31429579;31844290;32938616;35051231", "class_list": "", "function": "May function as part of the axonemal radial spoke complex 3 (RS3). Radial spoke complexes are important for ciliary motility., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; This gene encodes a protein component of the radial spoke head in flagella and motile cilia. Eukaryotic flagella and motile cilia share a common 9 + 2 structure, in which nine peripheral microtubule doublets (MTDs) surround a central-pair of microtubules (CP), with radial spokes connecting the MTDs to the CP. The radial spoke is a multi-protein complex that works as a mechanochemical transducer between the CP and the MTDs. The radial spoke contributes to the regulation of the activity of dynein motors, and thus to flagellar motility. PMID: 22754630 provides a good review of radial spokes. [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": 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": "A6NMW7;B2RXI4;B2RXJ0;Q86ST9;Q8NE68", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0036126 sperm flagellum;GO:0005930 axoneme;GO:0097729 9+2 motile cilium;GO:0031514 motile cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "B2RC85-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BZE2-1", "uniprot_id": [ { "id": "PUS3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BZE2", "type": "external" } ], "mass": 55647.0, "length": 481, "protein_name": "tRNA pseudouridine(38/39) synthase", "gene_name": "PUS3", "organism": "Human", "refseq_name": "tRNA pseudouridine(38/39) synthase isoform 2", "refseq_ac": [ { "id": "NP_001258914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258914", "type": "external" } ], "gene_names_uniprotkb": "PUS3; FKSG32", "gene_names_refseq": "2610020J05Rik; DEG1; FKSG32; MRT55; NEDMIGS; PUS3", "protein_names_uniprotkb": "tRNA pseudouridine(38/39) synthase; 5.4.99.45; tRNA pseudouridine synthase 3; tRNA pseudouridylate synthase 3; tRNA-uridine isomerase 3", "protein_names_refseq": "tRNA pseudouridine synthase 3; tRNA pseudouridine(38/39) synthase isoform 2; tRNA pseudouridine(38/39) synthase; tRNA pseudouridylate synthase 3; tRNA-uridine isomerase 3", "tax_id": 9606, "disease": "severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (MONDO:MONDO:0014886)", "pathway": " (hsa:83480); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "10.1101/2023.09.13.557529;10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;17071714;18567810;18669648;19017811;19414587;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22591353;22995836;23042678;23048041;23186163;23381944;23604283;24126054;24204302;24901367;25261850;25404562;25418920;25576301;25916855;26154972;26160102;26310293;26811146;26929215;26992070;27055666;27846572;27920218;28514659;28832583;28904123;29242379;29393594;29437277;29632046;30379171;31217245;31481669;31844290;32157095;32350084;32502341;32983136;33592498;33717175;33912179;33936100;33968037;34415064;35051231;36010968;36125428;36241641;36610787;37217939;38996458;9430663;9851972", "class_list": "", "function": "Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders., [RefSeq, PubMed]; Consistent with the known role of Pus3 in isomerizing uracil to pseudouridine at positions 38 and 39 in tRNA, we found a significant reduction in this post-transcriptional modification of tRNA in patient cells, [RefSeq, PubMed]; Destabilization of mutated human PUS3 protein causes intellectual disability., [RefSeq, PubMed]; Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs., [UniProtKB, PubMed]; The molecular basis of tRNA selectivity by human pseudouridine synthase 3., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the formation of tRNA pseudouridine from tRNA uridine at position 39 in the anticodon stem and loop of transfer RNAs. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "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": "B2RAM0;Q96D17;Q96J23;Q96NB4", "ec_number_list": [ { "id": "5.4.99.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.12", "type": "external" }, { "id": "5.4.99.45", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.45", "type": "external" }, { "id": "5.4.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.-", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0009982 pseudouridine synthase activity;GO:0160154 tRNA pseudouridine(38/39) synthase activity;GO:0160147 tRNA pseudouridine(38-40) synthase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0031119 tRNA pseudouridine synthesis;GO:0006400 tRNA modification;GO:1990481 mRNA pseudouridine synthesis;GO:0001522 pseudouridine synthesis;GO:0008033 tRNA processing", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q9BZE2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96PZ0-1", "uniprot_id": [ { "id": "PUS7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96PZ0", "type": "external" } ], "mass": 75035.0, "length": 661, "protein_name": "Pseudouridylate synthase 7 homolog", "gene_name": "PUS7", "organism": "Human", "refseq_name": "pseudouridylate synthase 7 homolog isoform a", "refseq_ac": [ { "id": "NP_001305092", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305092", "type": "external" } ], "gene_names_uniprotkb": "PUS7; KIAA1897", "gene_names_refseq": "IDDABS; PUS7", "protein_names_uniprotkb": "Pseudouridylate synthase 7 homolog; 5.4.99.-", "protein_names_refseq": "pseudouridylate synthase 7 (putative); pseudouridylate synthase 7 homolog isoform a; pseudouridylate synthase 7 homolog", "tax_id": 9606, "disease": "intellectual developmental disorder with abnormal behavior, microcephaly, and short stature (Disease Ontology:DOID:0081265); intellectual disability (Disease Ontology:DOID:1059); microcephaly (Disease Ontology:DOID:10907)", "pathway": " (hsa:54517); (R-HSA-6782315)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10430867;10982862;11027153;11111046;11237011;12403464;15861136;15870694;15994936;16043508;16424344;17071714;18567810;19017811;19414587;19690332;20068231;20123966;20308323;20354154;20584901;21059936;21131277;22344696;22591353;22995836;23042678;23048041;23186163;23301498;23381944;23604283;24126054;24204302;24714562;24715725;24901367;25261850;25404562;25418920;25880248;25916855;26160102;26310293;26728094;26811146;26992070;27055666;27600516;27846572;27920218;28073919;28218747;28228285;28510447;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29628141;29786170;30315122;30379171;30410026;30429286;30484775;30526862;30778726;30779550;31217245;31451225;31477916;31481669;31530632;31583274;31844290;32157095;32350084;32357974;32387766;32488085;32897882;32938616;33100873;33141586;33537174;33592498;33633747;33912179;33968037;34171305;34718722;35051231;35051350;35144859;35251023;35561310;35580925;36010968;36215666;36222184;36241641;36581221;36610787;38819212;39175405;40914422;9430663;9851972", "class_list": "", "function": "Comprehensive analysis to identify PUS7 as a prognostic biomarker from pan-cancer analysis to osteosarcoma validation., [RefSeq, PubMed]; PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation., [RefSeq, PubMed]; PUS7 promotes the proliferation of colorectal cancer cells by directly stabilizing SIRT1 to activate the Wnt/beta-catenin pathway., [RefSeq, PubMed]; PUS7-dependent pseudouridylation of ALKBH3 mRNA inhibits gastric cancer progression., [RefSeq, PubMed]; Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing., [RefSeq, PubMed]; Pseudouridylate synthase that catalyzes pseudouridylation of RNAs (PubMed:28073919, PubMed:29628141, PubMed:30778726, PubMed:31477916, PubMed:34718722, PubMed:35051350). Acts as a regulator of protein synthesis in embryonic stem cells by mediating pseudouridylation of RNA fragments derived from tRNAs (tRFs): pseudouridylated tRFs inhibit translation by targeting the translation initiation complex (PubMed:29628141). Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5'-UGUAG-3' (PubMed:28073919, PubMed:31477916, PubMed:35051350). Acts as a regulator of pre-mRNA splicing by mediating pseudouridylation of pre-mRNAs at locations associated with alternatively spliced regions (PubMed:35051350). Pseudouridylation of pre-mRNAs near splice sites directly regulates mRNA splicing and mRNA 3'-end processing (PubMed:35051350). In addition to mRNAs and tRNAs, binds other types of RNAs, such as snRNAs, Y RNAs and vault RNAs, suggesting that it can catalyze pseudouridylation of many RNA types (PubMed:29628141)., [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": 1, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q75MG4;Q9NX19", "ec_number_list": [ { "id": "5.4.99.25", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.25", "type": "external" }, { "id": "5.4.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.-", "type": "external" }, { "id": "5.4.99.42", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.42", "type": "external" }, { "id": "5.4.99.28", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.28", "type": "external" }, { "id": "5.4.99.12", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.99.12", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0019899 enzyme binding;GO:0009982 pseudouridine synthase activity;GO:0160150 tRNA pseudouridine(13) synthase activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0031119 tRNA pseudouridine synthesis;GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:1902036 regulation of hematopoietic stem cell differentiation;GO:0017148 negative regulation of translation", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q96PZ0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q02127-1", "uniprot_id": [ { "id": "PYRD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q02127", "type": "external" } ], "mass": 42867.0, "length": 395, "protein_name": "Dihydroorotate dehydrogenase (quinone), mitochondrial", "gene_name": "DHODH", "organism": "Human", "refseq_name": "dihydroorotate dehydrogenase (quinone), mitochondrial", "refseq_ac": [ { "id": "NP_001352", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001352", "type": "external" } ], "gene_names_uniprotkb": "DHODH", "gene_names_refseq": "DHODH; DHOdehase; POADS; URA1", "protein_names_uniprotkb": "Dihydroorotate dehydrogenase (quinone), mitochondrial; 1.3.5.2; DHOdehase; Dihydroorotate oxidase", "protein_names_refseq": "dihydroorotate dehydrogenase (quinone), mitochondrial; dihydroorotate oxidase; human complement of yeast URA1", "tax_id": 9606, "disease": "postaxial acrofacial dysostosis (Disease Ontology:DOID:0111259)", "pathway": " (hsa:1723); (R-HSA-500753)", "pathway_count": 2, "publication_count": 63, "publication_id_list": "10.1101/2023.09.13.557529;10673429;10727948;10889450;11053058;11237011;13115431;1446837;16480261;165196;18184586;19915526;20058876;21157651;22299025;24715725;26154972;26992070;27920218;28832583;28834231;28904123;29242379;29557506;29769354;2995985;30429286;31844290;31848261;31937595;32157095;32357974;32494856;32502341;32696396;32735689;32754890;33141586;33298915;33392160;33936100;33981976;34171305;34211107;34357683;34932366;35051231;35943801;36241641;36825574;37204046;38558052;38796629;4684686;6105839;6893554;7487077;8573583;8619816;8631878;8925840;9042911;9693067", "class_list": "", "function": "Bioinformatics analysis and experimental verification of the cancer-promoting effect of DHODH in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor. Required for UMP biosynthesis via de novo pathway., [UniProtKB, PubMed, UniProtKB, UniProtKB]; DHODH is an independent prognostic marker and potent therapeutic target in neuroblastoma. Publication Status: Online-Only, [RefSeq, PubMed]; Exploiting Cancer Vulnerabilities by Blocking of the DHODH and GPX4 Pathways: A Multifunctional Bodipy/PROTAC Nanoplatform for the Efficient Synergistic Ferroptosis Therapy., [RefSeq, PubMed]; Pivotal role of dihydroorotate dehydrogenase as a therapeutic target in adult T-cell leukemia., [RefSeq, PubMed]; Screening for DAX1/EWS-FLI1 functional inhibitors identified dihydroorotate dehydrogenase as a therapeutic target for Ewing's sarcoma., [RefSeq, PubMed]; The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K8C8;Q6P176", "ec_number_list": [ { "id": "1.3.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.5.2", "type": "external" } ], "go_molecular_function": "GO:0004151 dihydroorotase activity;GO:0004152 dihydroorotate dehydrogenase activity;GO:0106430 dihydroorotate dehydrogenase (quinone) activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0009220 pyrimidine ribonucleotide biosynthetic process;GO:0006207 'de novo' pyrimidine nucleobase biosynthetic process;GO:0044205 'de novo' UMP biosynthetic process;GO:0006225 UDP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q02127-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96D70-1", "uniprot_id": [ { "id": "R3HD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96D70", "type": "external" } ], "mass": 30350.0, "length": 268, "protein_name": "R3H domain-containing protein 4", "gene_name": "R3HDM4", "organism": "Human", "refseq_name": "R3H domain-containing protein 4", "refseq_ac": [ { "id": "NP_620129", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620129", "type": "external" } ], "gene_names_uniprotkb": "R3HDM4; C19orf22", "gene_names_refseq": "C19orf22; R3HDM4", "protein_names_uniprotkb": "R3H domain-containing protein 4", "protein_names_refseq": "R3H domain-containing protein 4; R3H domain-containing protein C19orf22", "tax_id": 9606, "disease": "", "pathway": " (hsa:91300)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;23481700;24715725;25418920;25576301;26992070;27600516;27846572;28063628;28228285;28514659;28832583;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30484775;30779550;31844290;32157095;32265295;32387766;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33912179;33968037;34171305;34185709;34509645;35051231;35561310;35580925;36010968;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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q96D70-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DJ07-1", "uniprot_id": [ { "id": "PT100_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DJ07", "type": "external" } ], "mass": 9114.0, "length": 73, "protein_name": "Protein PET100 homolog, mitochondrial", "gene_name": "PET100", "organism": "Human", "refseq_name": "protein PET100 homolog, mitochondrial", "refseq_ac": [ { "id": "NP_001164626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164626", "type": "external" } ], "gene_names_uniprotkb": "PET100; C19orf79", "gene_names_refseq": "C19orf79; MC4DN12; PET100", "protein_names_uniprotkb": "Protein PET100 homolog, mitochondrial", "protein_names_refseq": "PET100 homolog; protein PET100 homolog, mitochondrial", "tax_id": 9606, "disease": "mitochondrial complex IV deficiency nuclear type 12 (Disease Ontology:DOID:0070498)", "pathway": " (hsa:100131801); (R-HSA-9864848)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "11237011;19503089;22342701;22356826;23125284;23260140;23345593;23746447;24403053;24462369;24714562;25293719;25926683;25959673;26154972;26321642;26728094;26992070;27693358;27846572;27920218;28082314;28199844;28228285;28330871;28834231;28904123;29154948;29493099;29508533;29786170;30315122;31530632;31536960;31844290;31848261;32317297;32357974;32375044;32502341;32897882;32938616;32983136;33392160;33592498;33717175;33968037;34185709;34357683;34561969;34969438;35318648;35580925;35750769;36010968;36241641;36284347;37938771;9843204", "class_list": "", "function": "COX assembly candidate, ortholog of fungal PET100 GeneRIF: Protein identified in mammalian mitochondria Publication Status: Online-Only, [RefSeq, PubMed]; Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]., [RefSeq]; Plays an essential role in mitochondrial complex IV maturation and assembly., [UniProtKB, PubMed, PubMed]; The short isoform of the myofibrillogenesis regulator 1 (MR-1S) as a new COX assembly factor, which works with the highly conserved PET100 and PET117 chaperones to assist COX biogenesis in higher eukaryotes., [RefSeq, PubMed]; We identify PET100 as a complex IV biogenesis factor in humans and characterize its location and role in mitochondria.We found PET100 (MIM 614770) mutations in ten Lebanese individuals with Leigh syndrome and isolated complex IV deficiency., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "", "ec_number_list": [], "go_molecular_function": "GO:0051082 unfolded protein binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0033617 mitochondrial respiratory chain complex IV assembly", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "P0DJ07-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15541-1", "uniprot_id": [ { "id": "R113A_HUMAN", "url": "https://www.uniprot.org/uniprot/O15541", "type": "external" } ], "mass": 38787.0, "length": 343, "protein_name": "E3 ubiquitin-protein ligase RNF113A", "gene_name": "RNF113A", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF113A", "refseq_ac": [ { "id": "NP_008909", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008909", "type": "external" } ], "gene_names_uniprotkb": "RNF113A; RNF113; ZNF183", "gene_names_refseq": "Cwc24; RNF113A; RNF113; TTD5; ZNF183", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF113A; 2.3.2.27; Cwc24 homolog; RING finger protein 113A; Zinc finger protein 183", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF113A; cwc24 homolog; zinc finger protein 183 (RING finger, C3HC4 type)", "tax_id": 9606, "disease": "nonphotosensitive trichothiodystrophy 5 (Disease Ontology:DOID:0111868)", "pathway": " (hsa:7737); (R-HSA-72163)", "pathway_count": 2, "publication_count": 124, "publication_id_list": "10882114;11014198;11101529;11233976;11991638;12176931;12411573;12414731;12477934;14625303;14713954;15345747;16314458;16809785;17081983;17095540;17287340;17332742;17487921;17606899;18212344;18322460;18452278;18593880;18669648;19103666;19165350;19413330;19415658;19536130;19651622;19690332;20058876;20068231;20166139;20423332;20980672;21406692;21536652;2176635;22110043;22365833;22959432;22961380;23186163;23222130;23236153;23301498;23345524;24196718;24275569;24304693;24448447;24737827;24914973;25555158;25576301;2558966;25612912;26154972;26385511;26420826;26969736;27377154;27459055;27600516;27683217;27846572;28062851;28076346;28502770;28781166;28832583;28978524;29144457;29242379;29301961;29360106;29361316;2963332;30315277;30429286;30705154;30728453;30765414;30779550;30975767;31154438;31222486;31409651;31844290;31848261;32152280;32157095;32179686;32329775;32357974;32488085;32494006;33243851;33446560;33509932;33968037;34301950;34561969;34822310;35051231;35385551;35580925;35819319;37164050;3757028;40473212;8566756;8608946;9016565;9224902;9242493;9512519;9524131;9539711;9671485;9701291;9731529", "class_list": "", "function": "A mutation that resulted in significant reduction of RNF113A protein was implicated in a non-photosensitive form of trichothiodystrophy. Lymphoblastoid cell lines from patients with the mutation in RNF113A had normal DNA damage responses on exposure to mitomycin C, diepoxybutane (DEB), bromodeoxyuridine (BrdU) and irradiation with ultraviolet light., [RefSeq, PubMed]; RNF113A deficiency circumvents the resistance to Cisplatin and to BCL-2 inhibitors through the destabilization of MCL-1. Publication Status: Online-Only, [RefSeq, PubMed]; RNF113A targeted by miR-197 promotes proliferation and inhibits autophagy via CXCR4/CXCL12/AKT/ERK/Beclin1 axis in cervical cancer., [RefSeq, PubMed]; Required for pre-mRNA splicing as component of the spliceosome (PubMed:29360106, PubMed:29361316). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable). E3 ubiquitin-protein ligase that catalyzes the transfer of ubiquitin onto target proteins (PubMed:28978524, PubMed:29144457). Catalyzes polyubiquitination of SNRNP200/BRR2 with non-canonical 'Lys-63'-linked polyubiquitin chains (PubMed:29144457). Plays a role in DNA repair via its role in the synthesis of 'Lys-63'-linked polyubiquitin chains that recruit ALKBH3 and the ASCC complex to sites of DNA damage by alkylating agents (PubMed:29144457). Ubiquitinates CXCR4, leading to its degradation, and thereby contributes to the termination of CXCR4 signaling (PubMed:28978524)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; SMYD3 Impedes Small Cell Lung Cancer Sensitivity to Alkylation Damage through RNF113A Methylation-Phosphorylation Cross-talk., [RefSeq, PubMed]; This intronless gene encodes a protein which contains a C3H1-type zinc finger domain and a C3HC4 Ring-type (Really Interesting New Gene-type) zinc finger domain. The Ring-type zinc finger domain is identified in various tumor suppressors, DNA repair genes and cytokine receptor-associated molecules, and is probably involved in mediating protein-protein interactions. [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": 12, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RBR7", "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": "5.2.1.8", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.8", "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.-", "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" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0005684 U2-type spliceosomal complex;GO:0071005 U2-type precatalytic spliceosome", "go_biological_process": "GO:0070100 negative regulation of chemokine-mediated signaling pathway;GO:0006281 DNA repair;GO:0016567 protein ubiquitination;GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 12.7, "record_id": "O15541-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95755-1", "uniprot_id": [ { "id": "RAB36_HUMAN", "url": "https://www.uniprot.org/uniprot/O95755", "type": "external" } ], "mass": 29680.0, "length": 267, "protein_name": "Ras-related protein Rab-36", "gene_name": "RAB36", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RAB36", "gene_names_refseq": "", "protein_names_uniprotkb": "Ras-related protein Rab-36; 3.6.5.2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:9609); (R-HSA-6811438); (R-HSA-8873719)", "pathway_count": 3, "publication_count": 71, "publication_id_list": "10189370;10607907;10652308;10652516;11141079;11237011;11389151;11447212;11675392;11718716;11748249;12011112;12383348;12429822;15504911;15718469;15728195;15758030;16401880;1648736;17114793;17274799;17411337;18086915;18256213;18451304;18477386;18532927;19164740;19536132;19603039;19715559;20163571;20874812;21807881;22013193;22188167;22694141;23091056;23239882;23378023;23462996;23839779;23936529;23940353;24023390;24119662;25341920;25576301;25708460;26969162;28832583;39894887;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8636227;8662963;8836150;8945478;9244307;9476900;9510256;9653114;9707577;9915833;9920784", "class_list": "", "function": "The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q2M390;Q7Z4A9;Q9UHP5", "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:0005794 Golgi apparatus", "go_biological_process": "GO:0015031 protein transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "O95755-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95758-3", "uniprot_id": [ { "id": "PTBP3_HUMAN", "url": "https://www.uniprot.org/uniprot/O95758", "type": "external" } ], "mass": 59690.0, "length": 552, "protein_name": "Polypyrimidine tract-binding protein 3", "gene_name": "PTBP3", "organism": "Human", "refseq_name": "polypyrimidine tract-binding protein 3 isoform 2", "refseq_ac": [ { "id": "NP_001157260", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157260", "type": "external" } ], "gene_names_uniprotkb": "PTBP3; ROD1", "gene_names_refseq": "PTBP3; ROD1", "protein_names_uniprotkb": "Polypyrimidine tract-binding protein 3; Regulator of differentiation 1; Rod1", "protein_names_refseq": "ROD1 regulator of differentiation 1; fission yeast differentiation regulator; polypyrimidine tract-binding protein 3 isoform 2; regulator of differentiation 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9991)", "pathway_count": 1, "publication_count": 102, "publication_id_list": "10207106;18335065;19441079;19608861;20068231;20937273;21136679;22575643;22898188;23186163;23481700;24715725;25576301;25645385;25880248;25892735;26154972;26375851;26758079;26768311;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30192525;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31092671;31154438;31217245;31222486;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34185709;34211107;34405274;34509645;34561969;34932366;35051231;35136024;35251023;35318648;35323096;35580925;36010968;36241641;36284347;36581221;37633911;37938771;38573528;39116343;40914422", "class_list": "", "function": "MiR-297 inhibits tumour progression of liver cancer by targeting PTBP3. Publication Status: Online-Only, [RefSeq, PubMed]; PTBP3 Mediates IL-18 Exon Skipping to Promote Immune Escape in Gallbladder Cancer., [RefSeq, PubMed]; PTBP3 mediates TGF-beta-induced EMT and metastasis of lung adenocarcinoma., [RefSeq, PubMed]; PTBP3 modulates P53 expression and promotes colorectal cancer cell proliferation by maintaining UBE4A mRNA stability. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-binding protein that mediates pre-mRNA alternative splicing regulation. Plays a role in the regulation of cell proliferation, differentiation and migration. Positive regulator of EPO-dependent erythropoiesis. Participates in cell differentiation regulation by repressing tissue-specific exons. Promotes FAS exon 6 skipping. Binds RNA, preferentially to both poly(G) and poly(U)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; ROD1 and UPF1 associate with a significant number of common transcripts., [RefSeq, PubMed]; Regulator of differentiation 1 (ROD1) binds to the amphipathic C-terminal peptide of thrombospondin-4 and is involved in its mitogenic activity., [RefSeq, PubMed]; The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]., [RefSeq]; YTHDC1 promotes the malignant progression of gastric cancer by promoting ROD1 translocation to the nucleus. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B1ALY2;B1ALY3;B1ALY5;B1ALY6;B3KME7;Q68DB9;Q86YB3;Q86YH9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0043249 erythrocyte maturation;GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0045595 regulation of cell differentiation;GO:0043484 regulation of RNA splicing", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "O95758-3", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51157-1", "uniprot_id": [ { "id": "RAB28_HUMAN", "url": "https://www.uniprot.org/uniprot/P51157", "type": "external" } ], "mass": 24841.0, "length": 221, "protein_name": "Ras-related protein Rab-28", "gene_name": "RAB28", "organism": "Human", "refseq_name": "ras-related protein Rab-28 isoform 1", "refseq_ac": [ { "id": "NP_001017979", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017979", "type": "external" } ], "gene_names_uniprotkb": "RAB28", "gene_names_refseq": "CORD18; RAB28", "protein_names_uniprotkb": "Ras-related protein Rab-28; 3.6.5.2", "protein_names_refseq": "Ras-related protein Rab-28; ras-related protein Rab-28 isoform 1", "tax_id": 9606, "disease": "ciliopathy (Disease Ontology:DOID:0060340); cone-rod dystrophy 18 (Disease Ontology:DOID:0111024)", "pathway": " (hsa:9364)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "11237011;17411337;19026641;21406692;23481700;23746546;27397612;27920218;28514659;28904123;29393594;29632711;31217245;31530632;31844290;32084271;32157095;32897882;32938616;33298915;33396523;33968037;33981976;35051231;36010968;36241641;37869955;8647132", "class_list": "", "function": "Crystal structures of Rab28 in the active (GppNHp-bound) and inactive (GDP-3'P-bound) forms at 1.5 and 1.1A resolution were reported., [RefSeq, PubMed]; Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families. Publication Status: Online-Only, [RefSeq, PubMed]; In conclusion, RAB28 variants are a rare cause of cone-rod dystrophy in various ethnic groups. These variants cause a comparable ophthalmological phenotype and furthermore could also be a cause of postaxial polydactyly., [RefSeq, PubMed]; The roles of Klotho and FGF-23 in bipolar manic episode., [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes (PubMed:8647132). 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 (PubMed:8647132). RAB28 is required for shedding and phagocytosis of cone cell outer segments (OS) discs in the retina (By similarity). Also participates in nuclear factor kappa-B p65/RELA nuclear transport in endothelial cells (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq, Apr 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": 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": "G8JLC5;Q8IYR8;Q8NI05", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0019003 GDP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0035253 ciliary rootlet;GO:0012505 endomembrane system", "go_biological_process": "GO:0006886 intracellular protein transport", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "P51157-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57735-1", "uniprot_id": [ { "id": "RAB25_HUMAN", "url": "https://www.uniprot.org/uniprot/P57735", "type": "external" } ], "mass": 23496.0, "length": 213, "protein_name": "Ras-related protein Rab-25", "gene_name": "RAB25", "organism": "Human", "refseq_name": "ras-related protein Rab-25 precursor", "refseq_ac": [ { "id": "NP_065120", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065120", "type": "external" } ], "gene_names_uniprotkb": "RAB25; CATX8", "gene_names_refseq": "CATX-8; RAB11C; RAB25", "protein_names_uniprotkb": "Ras-related protein Rab-25; 3.6.5.2; CATX-8", "protein_names_refseq": "ras-related protein Rab-25 precursor; ras-related protein Rab-25", "tax_id": 9606, "disease": "", "pathway": " (hsa:57111); (R-HSA-8873719)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "11141079;11389151;11447212;11495908;11675392;15502842;16401880;1648736;17114793;17411337;17925226;18532927;19603039;22694141;24023390;25341920;25576301;25892735;26032412;26969162;28017832;28904123;29557506;29786170;29789417;30779550;31154438;31844290;31848261;32983136;33015770;33123756;33968037;33981976;34087483;35051231;35318648;35580925;36241641;36284347;37246119;38803515;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8836150", "class_list": "", "function": "Expression of Rab25 is down-regulated in the foreskin of children with hypospadias., [RefSeq, PubMed]; Long non-coding RNA LINC00173 serves as sponge for miR-338-3p to promote prostate cancer progression via regulating Rab25., [RefSeq, PubMed]; Loss of RAB25 Cooperates with Oncogenes in the Transformation of Human Mammary Epithelial Cells (HMECs) to Give Rise to Claudin-Low Tumors. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the RAS superfamily of small GTPases. The encoded protein is involved in membrane trafficking and cell survival. This gene has been found to be a tumor suppressor and an oncogene, depending on the context. Two variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2015]., [RefSeq]; 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). RAB25 regulates epithelial cell differentiation, proliferation and survival, thereby playing key roles in tumorigenesis (PubMed:17925226). Promotes invasive migration of cells in which it functions to localize and maintain integrin alpha-V/beta-1 at the tips of extending pseudopodia (PubMed:17925226). Involved in the regulation of epithelial morphogenesis through the control of CLDN4 expression and localization at tight junctions (By similarity). May selectively regulate the apical recycling pathway (By similarity). Together with MYO5B regulates transcytosis (By similarity)., [UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5VYA2;Q8NG24;Q96GB1;Q9BT12", "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:0031489 myosin V binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0031260 pseudopodium membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0055037 recycling endosome;GO:0070062 extracellular exosome", "go_biological_process": "GO:0031268 pseudopodium organization;GO:0008284 positive regulation of cell population proliferation;GO:0015031 protein transport;GO:0060627 regulation of vesicle-mediated transport;GO:0003382 epithelial cell morphogenesis", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "P57735-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14914-1", "uniprot_id": [ { "id": "PTGR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14914", "type": "external" } ], "mass": 35870.0, "length": 329, "protein_name": "Prostaglandin reductase 1", "gene_name": "PTGR1", "organism": "Human", "refseq_name": "prostaglandin reductase 1 isoform 1", "refseq_ac": [ { "id": "NP_001139580", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139580", "type": "external" } ], "gene_names_uniprotkb": "PTGR1; LTB4DH", "gene_names_refseq": "DIG-1; LTB4DH; PGR1; PTGR1; ZADH3", "protein_names_uniprotkb": "Prostaglandin reductase 1; 1.3.1.48; 1.3.1.74; 15-oxoprostaglandin 13-reductase; D3T-inducible gene 1 protein; DIG-1; Dithiolethione-inducible gene 1 protein; Leukotriene B4 12-hydroxydehydrogenase; NAD(P)H-dependent alkenal/one oxidoreductase; PRG-1", "protein_names_refseq": "15-oxoprostaglandin 13-reductase; D3T-inducible gene 1 protein; NAD(P)H-dependent alkenal/one oxidoreductase; NADP-dependent leukotriene B4 12-hydroxydehydrogenase; PRG-1; dithiolethione-inducible gene 1 protein; leukotriene B4 12-hydroxydehydrogenase; prostaglandin reductase 1 isoform 1; zinc binding alcohol dehydrogenase domain containing 3", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:22949); (R-HSA-2142691); (R-HSA-2142700)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "10064732;10779545;10837478;11237011;11844797;1359745;15604543;16795963;18184802;1848634;18647347;19595472;19743890;19913121;20112406;20436887;21447318;2155925;23076889;24275569;25619643;25645385;26992070;27046942;2753893;2768222;28088550;2836406;2864155;2866075;2877850;2882965;28832583;28834231;29133059;29192674;29242379;29393594;29557506;29632046;2995393;3006030;3020588;30336981;30429286;30669;30779550;30833945;31154438;3118366;3164719;31844290;31848261;32157095;32161166;32350084;32488085;32938616;33592498;33968037;34171305;35051231;35580925;3563417;3579953;36010968;3770188;37910537;38413664;38665916;3933675;6089195;6122208;6293969;6422933;6490615;7568157;7937884;8052639;8250832;8394361;8576264;9461497", "class_list": "", "function": "LTB4DH plays a pivotal role in alpha-galactosylceramide-pulsed dendritic cell immunotherapy for non-small cell lung cancer., [RefSeq, PubMed]; NAD(P)H-dependent oxidoreductase involved in metabolic inactivation of pro- and anti-inflammatory eicosanoids: prostaglandins (PG), leukotrienes (LT) and lipoxins (LX) (PubMed:25619643). Catalyzes with high efficiency the reduction of the 13,14 double bond of 15-oxoPGs, including 15-oxo-PGE1, 15-oxo-PGE2, 15-oxo-PGF1-alpha and 15-oxo-PGF2-alpha (PubMed:25619643). Catalyzes with lower efficiency the oxidation of the hydroxyl group at C12 of LTB4 and its derivatives, converting them into biologically less active 12-oxo-LTB4 metabolites (By similarity) (PubMed:25619643). Reduces 15-oxo-LXA4 to 13,14 dihydro-15-oxo-LXA4, enhancing neutrophil recruitment at the inflammatory site (By similarity). May play a role in metabolic detoxification of alkenals and ketones. Reduces alpha,beta-unsaturated alkenals and ketones, particularly those with medium-chain length, showing highest affinity toward (2E)-decenal and (3E)-3-nonen-2-one (PubMed:25619643). May inactivate 4-hydroxy-2-nonenal, a cytotoxic lipid constituent of oxidized low-density lipoprotein particles (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; PTGR1 is involved in cell proliferation in thoracic ossification of the ligamentum flavum. Publication Status: Online-Only, [RefSeq, PubMed]; Restoration of expression in enzyme-negative lung cancer cell lines induces apoptosis and growth inhibition, [RefSeq, PubMed]; The data indicate that HMGB1-miR-522-3p-PTGR1 axis may be involved in the abnormal resolution of inflammation and suggest that this mechanism might be a target for modulation of chronic inflammatory disorder., [RefSeq, PubMed]; The human PTGR1 gene expression is controlled by TE-derived Z-DNA forming sequence cooperating with miR-6867-5p. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an enzyme that is involved in the inactivation of the chemotactic factor, leukotriene B4. The encoded protein specifically catalyzes the NADP+ dependent conversion of leukotriene B4 to 12-oxo-leukotriene B4. A pseudogene of this gene is found on chromosome 1. Alternative splicing results in multiple transcript variants. [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": 2, "reported_mutagensis": 3, "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": "A8K0N2;B4DPK3;F5GY50;Q8IYQ0;Q9H1X6", "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": "1.3.1.74", "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" } ], "go_molecular_function": "GO:0047522 15-oxoprostaglandin 13-reductase [NAD(P)+] activity;GO:0035798 2-alkenal reductase (NADPH) activity;GO:0036185 13-lipoxin reductase activity;GO:0097257 leukotriene B4 12-hydroxy dehydrogenase activity;GO:0032440 2-alkenal reductase [NAD(P)H] activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006693 prostaglandin metabolic process;GO:0006691 leukotriene metabolic process;GO:0036102 leukotriene B4 metabolic process;GO:2001302 lipoxin A4 metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.6, "record_id": "Q14914-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q16647-1", "uniprot_id": [ { "id": "PTGIS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q16647", "type": "external" } ], "mass": 57104.0, "length": 500, "protein_name": "Prostacyclin synthase", "gene_name": "PTGIS", "organism": "Human", "refseq_name": "prostacyclin synthase", "refseq_ac": [ { "id": "NP_000952", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000952", "type": "external" } ], "gene_names_uniprotkb": "PTGIS; CYP8A1; CYP8", "gene_names_refseq": "CYP8A1; CYP8; PGIS; PTGIS; PTGI", "protein_names_uniprotkb": "Prostacyclin synthase; 4.2.1.152; 5.3.99.4; Hydroperoxy icosatetraenoate dehydratase; Prostaglandin I2 synthase", "protein_names_refseq": "cytochrome P450, family 8, subfamily A, polypeptide 1; hydroperoxy icosatetraenoate dehydratase; prostacyclin synthase; prostaglandin I2 (prostacyclin) synthase", "tax_id": 9606, "disease": "limb ischemia (Disease Ontology:DOID:0050852); colorectal adenoma (Disease Ontology:DOID:0050860); oral squamous cell carcinoma (Disease Ontology:DOID:0050866); cerebral cavernous malformation 1 (Disease Ontology:DOID:0080491); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); carotid stenosis (Disease Ontology:DOID:13001); patent ductus arteriosus (Disease Ontology:DOID:13832); Parkinson's disease (Disease Ontology:DOID:14330); primary pulmonary hypertension (Disease Ontology:DOID:14557); atherosclerosis (Disease Ontology:DOID:1936); transient cerebral ischemia (Disease Ontology:DOID:224); brain ischemia (Disease Ontology:DOID:2316); cerebral infarction (Disease Ontology:DOID:3526); myocardial infarction (Disease Ontology:DOID:5844); congestive heart failure (Disease Ontology:DOID:6000); pulmonary hypertension (Disease Ontology:DOID:6432); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:5740); (R-HSA-211979); (R-HSA-2162123)", "pathway_count": 3, "publication_count": 79, "publication_id_list": "10377455;10405341;10622721;10791960;10922363;10966456;11281454;11297515;11465543;11672424;12372404;12627223;12835322;1380156;14979715;15047184;15115769;16436457;16475787;16828555;17020766;17449869;17459323;17641676;18006499;18032380;18493841;18682561;19000823;20036328;20667974;20950588;21467029;25576301;25623425;27600516;27862975;28832583;29242379;29331515;29493099;29557506;29789417;30429286;31844290;31848261;32157095;32938616;33123756;35051231;35318648;35494241;35580925;36010968;36241641;36284347;37258478;37779109;37796199;3862115;38639351;39082135;3954355;4514999;4521806;4776443;5284360;7005231;7552725;7925341;7947975;8175750;8185632;8901870;9139685;9219313;9539102;9626023;9799565", "class_list": "", "function": "Analysis and experimental validation of fatty acid metabolism-related genes prostacyclin synthase (PTGIS) in endometrial cancer., [RefSeq, PubMed]; Catalyzes the biosynthesis and metabolism of eicosanoids. Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2), a potent mediator of vasodilation and inhibitor of platelet aggregation (PubMed:12372404, PubMed:15115769, PubMed:18032380, PubMed:25623425). Additionally, displays dehydratase activity, toward hydroperoxyeicosatetraenoates (HPETEs), especially toward (15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate (15(S)-HPETE) (PubMed:17459323)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Identification of Prostaglandin I2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis., [RefSeq, PubMed]; Prostacyclin Synthase Deficiency Leads to Exacerbation or Occurrence of Endothelium-Dependent Contraction and Causes Cardiovascular Disorders Mainly via the Non-TxA2 Prostanoids/TP Axis., [RefSeq, PubMed]; RRNA-Derived Small RNA rsRNA-28S Regulates the Chemoresistance of Prostate Cancer Cells by Targeting PTGIS., [RefSeq, PubMed]; This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to prostacyclin (prostaglandin I2), a potent vasodilator and inhibitor of platelet aggregation. An imbalance of prostacyclin and its physiological antagonist thromboxane A2 contribute to the development of myocardial infarction, stroke, and atherosclerosis. [provided by RefSeq, Jul 2008]., [RefSeq]; Validating the role of PTGIS gene in colorectal cancer by bioinformatics analysis and in vitro experiments. 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": 1, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 18, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3MII8;Q9HAX2;Q9HAX3;Q9HAX4", "ec_number_list": [ { "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": "5.3.99.5", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.5", "type": "external" }, { "id": "1.14.99.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.99.1", "type": "external" }, { "id": "5.3.99.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.99.4", "type": "external" }, { "id": "1.14.14.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.-", "type": "external" }, { "id": "5.4.4.7", "url": "https://www.rhea-db.org/rhea/?query=ec:5.4.4.7", "type": "external" }, { "id": "1.14.14.139", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.14.139", "type": "external" } ], "go_molecular_function": "GO:0008116 prostaglandin-I synthase activity;GO:0005506 iron ion binding;GO:0020037 heme binding;GO:0004497 monooxygenase activity;GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "go_cellular_component": "GO:0005634 nucleus;GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0005789 endoplasmic reticulum membrane;GO:0005901 caveola", "go_biological_process": "GO:0006690 icosanoid metabolic process;GO:0045766 positive regulation of angiogenesis;GO:0050728 negative regulation of inflammatory response;GO:0097190 apoptotic signaling pathway;GO:0071456 cellular response to hypoxia", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q16647-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q32P51-1", "uniprot_id": [ { "id": "RA1L2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q32P51", "type": "external" } ], "mass": 34225.0, "length": 320, "protein_name": "Heterogeneous nuclear ribonucleoprotein A1-like 2", "gene_name": "HNRNPA1L2", "organism": "Human", "refseq_name": "heterogeneous nuclear ribonucleoprotein A1-like 2", "refseq_ac": [ { "id": "NP_001011724", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011724", "type": "external" } ], "gene_names_uniprotkb": "HNRNPA1L2; HNRNPA1L", "gene_names_refseq": "HNRNPA1L2", "protein_names_uniprotkb": "Heterogeneous nuclear ribonucleoprotein A1-like 2; hnRNP A1-like 2; hnRNP core protein A1-like 2", "protein_names_refseq": "heterogeneous nuclear ribonucleoprotein A1-like 2; hnRNP A1-like 2; hnRNP core protein A1-like 2", "tax_id": 9606, "disease": "inclusion body myopathy with Paget disease of bone and frontotemporal dementia (Disease Ontology:DOID:0050881); neurodegenerative disease (Disease Ontology:DOID:1289)", "pathway": " (hsa:144983)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "17287340;20068231;23301498;24366607;24714562;26154972;28904123;29317506;29557506;30484775;31154438;31844290;32357974;32502341;33091337;33141586;33392160;37217939;38811797;40596516", "class_list": "", "function": "H3.3-G34W in giant cell tumor of bone functionally aligns with the exon choice repressor hnRNPA1L2. Erratum:[Cancer Gene Ther. 2024 Aug;31(8):1281. doi: 10.1038/s41417-024-00803-6. PMID: 38937572], [RefSeq, PubMed]; Involved in the packaging of pre-mRNA into hnRNP particles, transport of poly(A) mRNA from the nucleus to the cytoplasm and may modulate splice site selection., [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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "Q5TBS2", "ec_number_list": [], "go_molecular_function": "GO:0003730 mRNA 3'-UTR binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome;GO:0051028 mRNA transport", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q32P51-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53FA7-1", "uniprot_id": [ { "id": "QORX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53FA7", "type": "external" } ], "mass": 35536.0, "length": 332, "protein_name": "Quinone oxidoreductase PIG3", "gene_name": "TP53I3", "organism": "Human", "refseq_name": "quinone oxidoreductase PIG3 isoform 2", "refseq_ac": [ { "id": "NP_001193731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193731", "type": "external" } ], "gene_names_uniprotkb": "TP53I3; PIG3", "gene_names_refseq": "PIG3; TP53I3", "protein_names_uniprotkb": "Quinone oxidoreductase PIG3; 1.6.5.5; NADPH:quinone reductase PIG3; Protein PIG3; Tumor protein p53-inducible protein 3; p53-induced gene 3 protein", "protein_names_refseq": "NADPH:quinone reductase PIG3; p53-induced gene 3 protein; quinone oxidoreductase PIG3 isoform 2; quinone oxidoreductase PIG3; quinone oxidoreductase homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:9540); (R-HSA-6803205)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10733530;11054413;11237011;11675392;11684014;11714700;11919562;1321151;14614825;14729977;15067011;15192123;15377670;15577913;15797384;15837622;15958553;16140933;16249378;17224074;17442733;18532927;19040420;19349281;19549844;23059823;23182941;23481700;23671130;24260043;28259183;28351326;29242379;29557506;30281878;30334411;30429286;32938616;33782397;33968037;34171305;35580925;36580660;38665916;7991565;9305847", "class_list": "", "function": "Expression of PIG3 is frequently reduced in gastric cancer (GC) tissue, and PIG3 suppressed human GC growth through p53- mediated apoptosis; PIG3 may act as a potential diagnostic marker and a potential therapeutic target of GC, [RefSeq, PubMed]; NADPH:quinone reductase which expression is induced by p53/TP53 and is involved in both the DNA damage response through homologous recombination repair, and p53-mediated apoptosis (PubMed:19349281, PubMed:33782397). Catalyzes the NADPH-dependent reduction of quinones, exhibiting a low enzymatic activity with beta-naphthoquinones and a strong preference for the ortho-quinone isomer (1,2-beta-naphthoquinone) over the para isomer (1,4-beta-naphthoquinone). Also displays a low reductase activity for non-quinone compounds such as diamine and 2,6-dichloroindophenol (in vitro) (PubMed:19349281). The reduction of 1,2-naphthoquinone concurrently generates reactive oxygen species (ROS), which may trigger apoptosis downstream of p53/TP53 (PubMed:19349281)., [UniProtKB, PubMed, PubMed]; Our data suggest that high expression of p53-inducible gene 3 is significant for glioblastoma inhibition and p53-inducible gene 3 independently indicates good prognosis in patients, which might be a novel prognostic biomarker or potential therapeutic target in glioblastoma., [RefSeq, PubMed]; P53 activity and PIG3 gene function are uncoupled by UV-dependent alternative splicing through rapid proteolytic degradation, [RefSeq, PubMed]; Results revealed that PIG3 expression levels positively correlated with poor prognosis of non-small cell lung cancer (NSCLC) patients and indicate that PIG3 promotes NSCLC progression. Publication Status: Online-Only, [RefSeq, PubMed]; Study found that PIG3 expression was positively associated with lymph node metastasis from lung adenocarcinoma (LUAD) but not from lung squamous cell carcinoma (LUSC). Further data revealed a role for PIG3 in inducing LUAD metastasis, and its role as a new FAK regulator, suggesting that it could be considered as a novel prognostic biomarker., [RefSeq, PubMed]; Suppression of p53-C277Y by RNAi reduced pig3 promoter activity, RNA, and protein expression, [RefSeq, PubMed]; The protein encoded by this gene is similar to oxidoreductases, which are enzymes involved in cellular responses to oxidative stresses and irradiation. This gene is induced by the tumor suppressor p53 and is thought to be involved in p53-mediated cell death. It contains a p53 consensus binding site in its promoter region and a downstream pentanucleotide microsatellite sequence. P53 has been shown to transcriptionally activate this gene by interacting with the downstream pentanucleotide microsatellite sequence. The microsatellite is polymorphic, with a varying number of pentanucleotide repeats directly correlated with the extent of transcriptional activation by p53. It has been suggested that the microsatellite polymorphism may be associated with differential susceptibility to cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "D6W533;O14679;O14685;Q38G78;Q6JLE7;Q9BWB8", "ec_number_list": [ { "id": "1.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.5.5", "type": "external" } ], "go_molecular_function": "GO:0003960 quinone reductase (NADPH) activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:1903409 reactive oxygen species biosynthetic process;GO:0006915 apoptotic process", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q53FA7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JQD4-1", "uniprot_id": [ { "id": "PYY3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JQD4", "type": "external" } ], "mass": 7832.0, "length": 70, "protein_name": "Putative peptide YY-3", "gene_name": "PYY3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PYY3", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative peptide YY-3; PYY-III; Putative peptide YY3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "29557506", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005184 neuropeptide hormone activity;GO:0031841 neuropeptide Y receptor binding", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0007218 neuropeptide signaling pathway;GO:0007631 feeding behavior", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q5JQD4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z444-1", "uniprot_id": [ { "id": "RASE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z444", "type": "external" } ], "mass": 25287.0, "length": 233, "protein_name": "GTPase ERas", "gene_name": "ERAS", "organism": "Human", "refseq_name": "GTPase ERas precursor", "refseq_ac": [ { "id": "NP_853510", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_853510", "type": "external" } ], "gene_names_uniprotkb": "ERAS; HRAS2; HRASP", "gene_names_refseq": "ERAS; HRAS2; HRASP", "protein_names_uniprotkb": "GTPase ERas; 3.6.5.2; E-Ras; Embryonic stem cell-expressed Ras", "protein_names_refseq": "GTPase ERas precursor; GTPase ERas; embryonic stem cell-expressed Ras; small GTPase protein E-Ras; v-Ha-ras Harvey rat sarcoma viral oncogene homolog 2; v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:3266)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "12774123;16081664;18174262;32432726;32700262;35051231;35159317", "class_list": "", "function": "ERas regulates cell proliferation and epithelial-mesenchymal transition by affecting Erk/Akt signaling pathway in pancreatic cancer., [RefSeq, PubMed]; Epithelial-mesenchymal transition suppresses ERas to activate autophagy in retinal pigment epithelial cells in proliferative vitreoretinopathy., [RefSeq, PubMed]; Physical Interaction between Embryonic Stem Cell-Expressed Ras (ERas) and Arginase-1 in Quiescent Hepatic Stellate Cells. Publication Status: Online-Only, [RefSeq, PubMed]; Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the tumor-like growth properties of embryonic stem cells (By similarity)., [UniProtKB]; RasH2 may have a role in susceptibility to chemically-induced tongue and esophageal neoplasms, [RefSeq, PubMed]; Studies on ERas gene expression., [RefSeq, PubMed]; This gene encodes a constitutively active member of the small GTPase Ras protein family. The encoded protein activates the phosphatidylinositol 3-kinase signal transduction pathway in undifferentiated stem cells, but is not expressed in differentiated cells. This gene may be involved in cancer and chemotherapy resistance. [provided by RefSeq, Dec 2012]., [RefSeq]; Transforming oncogene ERas is important in the tumour-like growth properties of embryonic 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0007265 Ras protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q7Z444-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZP6-1", "uniprot_id": [ { "id": "R113B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZP6", "type": "external" } ], "mass": 36259.0, "length": 322, "protein_name": "RING finger protein 113B", "gene_name": "RNF113B", "organism": "Human", "refseq_name": "RING finger protein 113B", "refseq_ac": [ { "id": "NP_849192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_849192", "type": "external" } ], "gene_names_uniprotkb": "RNF113B; RNF161; ZNF183L1", "gene_names_refseq": "RNF113B; RNF161; ZNF183L1; bA10G5.1", "protein_names_uniprotkb": "RING finger protein 113B; Zinc finger protein 183-like 1", "protein_names_refseq": "RING finger protein 113B; zinc finger protein 183-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:140432)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "25418920;29632046", "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": 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": "Q8WWF9;Q96QY9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005684 U2-type spliceosomal complex", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8IZP6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N142-1", "uniprot_id": [ { "id": "PURA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N142", "type": "external" } ], "mass": 50208.0, "length": 457, "protein_name": "Adenylosuccinate synthetase isozyme 1", "gene_name": "ADSS1", "organism": "Human", "refseq_name": "adenylosuccinate synthetase isozyme 1 isoform 3", "refseq_ac": [ { "id": "NP_001307353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307353", "type": "external" } ], "gene_names_uniprotkb": "ADSS1; ADSSL1", "gene_names_refseq": "ADSS1; ADSSL1; MPD5", "protein_names_uniprotkb": "Adenylosuccinate synthetase isozyme 1; 6.3.4.4; AMPSase 1; AdSS 1; AdSSL1; Adenylosuccinate synthetase, basic isozyme; Adenylosuccinate synthetase, muscle isozyme; Adenylosuccinate synthetase-like 1; IMP--aspartate ligase 1; M-type adenylosuccinate synthetase", "protein_names_refseq": "AMPSase 1; IMP--aspartate ligase 1; M-type adenylosuccinate synthetase; adSS 1; adenylosuccinate synthase like 1; adenylosuccinate synthetase isozyme 1 isoform 3; adenylosuccinate synthetase isozyme 1; adenylosuccinate synthetase, basic isozyme; adenylosuccinate synthetase, muscle isozyme; adenylosuccinate synthetase-like 1", "tax_id": 9606, "disease": "sarcoma (Disease Ontology:DOID:1115); myopathy, distal, 5 (MONDO:MONDO:0014877)", "pathway": " (hsa:122622); (R-HSA-73817)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "10958654;11096114;11237011;11381136;12450384;14529546;15786719;1592113;17224163;18083107;18388293;18507432;18609073;1967654;21320556;2147474;2183217;21960835;25576301;26506222;27397612;27846572;28268051;28834231;29242379;29557506;30315122;30410026;30429286;31844290;31848261;32161166;32387766;32646962;32938616;33691108;33968037;35051231;36010968;4348202;4726295;762062;7706277;7903306;8089153;8110788;8366112;8380692;8567683", "class_list": "", "function": "A novel muscle isozyme of adenylosuccinate synthetase, human AdSSL1, is identified from human bone marrow stromal cells., [RefSeq, PubMed]; ADSSL1 myopathy is the most common nemaline myopathy in Japan with variable clinical features., [RefSeq, PubMed]; Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP., [UniProtKB, PubMed]; Study investigated the clinical manifestation in Korean patients with ADSSL1 mutations. Patients with ADSSL1 mutations demonstrated distal muscle weakness in adolescence, followed by quadriceps muscle weakness in the early 30s. All patients had mild facial weakness and two patients complained of easy fatigue while eating and chewing. Muscle biopsies and whole body muscle MR imaging findings are discussed., [RefSeq, PubMed]; This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 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": 11, "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": "Q86TT6;Q8N714", "ec_number_list": [ { "id": "6.3.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.4", "type": "external" } ], "go_molecular_function": "GO:0042301 phosphate ion binding;GO:0000287 magnesium ion binding;GO:0005525 GTP binding;GO:0004019 adenylosuccinate synthase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0046040 IMP metabolic process;GO:0044209 AMP salvage;GO:0006167 AMP biosynthetic process;GO:0002376 immune system process;GO:0044208 'de novo' AMP biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q8N142-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WU10-1", "uniprot_id": [ { "id": "PYRD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WU10", "type": "external" } ], "mass": 55793.0, "length": 500, "protein_name": "tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1", "gene_name": "PYROXD1", "organism": "Human", "refseq_name": "tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1 isoform 1", "refseq_ac": [ { "id": "NP_079130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079130", "type": "external" } ], "gene_names_uniprotkb": "PYROXD1", "gene_names_refseq": "MFM8; PYROXD1", "protein_names_uniprotkb": "tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1; 1.6.99.1; Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1", "protein_names_refseq": "pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1; tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1 isoform 1; tRNA ligase complex-associated NAD(P)H dehydrogenase PYROXD1", "tax_id": 9606, "disease": "myofibrillar myopathy 8 (Disease Ontology:DOID:0080308)", "pathway": " (hsa:79912)", "pathway_count": 1, "publication_count": 80, "publication_id_list": "11237011;23481700;24366607;24397554;24714562;24715725;25418920;25576301;25645385;25802875;25880248;26154972;26375851;26811146;26992070;27600516;27745833;27846572;27920218;28218747;28228285;28352266;28514659;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30345904;30410026;30484775;30515627;30524438;30779550;30833945;31154438;31217245;31222486;31502705;31530632;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33298915;33592498;33691108;33694278;33912179;33930333;33981976;34171305;34509645;34932366;35051231;35580925;36010968;36215666;36241641;36284347;36920481;39531497;40069351", "class_list": "", "function": "A siRNA-based method for efficient silencing of PYROXD1 gene expression in the colon cancer cell line HCT116., [RefSeq, PubMed]; Clinical and genetic characterization of PYROXD1-related myopathy patients from Turkey., [RefSeq, PubMed]; Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders., [RefSeq, PubMed]; Flavoprotein whose role is to protect RTCB, the catalytic subunit of the tRNA ligase complex (tRNA-LC) involved in tRNA splicing and unfolded protein response, from oxidative inactivation (PubMed:33930333). It directly binds and shields the catalytic center of RTCB, prior to guanylylation, when it is inactive and its active site is vulnerable to oxidation under aerobic conditions. The interaction of PYROXD1 with RTCB is allosterically regulated by NAD(P)H binding and reduction of its FAD cofactor, while reoxidation of PYROXD1 thanks to its NADPH dehydrogenase activity triggers the timed release of RTCB, enabling its subsequent activation. Thereby, this protective mechanism may also function as a molecular timer, regulating RTCB activation through controlled release (PubMed:40069351)., [UniProtKB, PubMed, PubMed]; PYROXD1 variants can cause an adult-onset slowly progressive limb-girdle muscular dystrophy-type phenotype., [RefSeq, PubMed]; Pyroxd1 pathogenic mutations in the limb-girdle muscular dystrophy patients from Saudi Arabia and Sudan., [RefSeq, PubMed]; The oxidoreductase PYROXD1 uses NAD(P)(+) as an antioxidant to sustain tRNA ligase activity in pre-tRNA splicing and unfolded protein response., [RefSeq, PubMed]; This gene encodes a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins that catalyze the pyridine nucleotide-dependent reduction of thiol residues in other proteins. The encoded protein belongs to the class I pyridine nucleotide-disulphide oxidoreductase family but lacks the C-terminal dimerization domain found in other family members and instead has a C-terminal nitrile reductase domain. It localizes to the nucleus and to striated sarcomeric compartments. Naturally occurring mutations in this gene cause early-onset myopathy with internalized nuclei and myofibrillar disorganization. A pseudogene of this gene has been defined on chromosome 11. [provided by RefSeq, Apr 2017]., [RefSeq]; We characterize variants in the oxidoreductase PYROXD1 as a cause of early-onset myopathy with distinctive histopathology and introduce altered redox regulation as a primary cause of congenital muscle disease., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 6, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A6NKI6;B3KWN8;Q9H6P1", "ec_number_list": [ { "id": "1.6.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.99.-", "type": "external" }, { "id": "1.14.13.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.-", "type": "external" }, { "id": "1.6.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.1", "type": "external" }, { "id": "1.14.13.8", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.8", "type": "external" }, { "id": "1.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.-.-.-", "type": "external" }, { "id": "1.14.13.225", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.13.225", "type": "external" }, { "id": "1.6.99.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.99.1", "type": "external" }, { "id": "1.11.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.11.1.-", "type": "external" } ], "go_molecular_function": "GO:0003954 NADH dehydrogenase activity;GO:0016174 NAD(P)H oxidase H2O2-forming activity;GO:0140299 molecular sensor activity;GO:0003959 NADPH dehydrogenase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0030017 sarcomere", "go_biological_process": "GO:0034599 cellular response to oxidative stress;GO:0000968 tRNA exon ligation", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q8WU10-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXC3-1", "uniprot_id": [ { "id": "PYDC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXC3", "type": "external" } ], "mass": 10107.0, "length": 89, "protein_name": "Pyrin domain-containing protein 1", "gene_name": "PYDC1", "organism": "Human", "refseq_name": "pyrin domain-containing protein 1", "refseq_ac": [ { "id": "NP_690865", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_690865", "type": "external" } ], "gene_names_uniprotkb": "PYDC1; ASC2; ASCI; POP1; PYC1", "gene_names_refseq": "ASC2; POP1; PYC1; PYDC1; cPOP1", "protein_names_uniprotkb": "Pyrin domain-containing protein 1; PAAD-only protein 1; Pyrin-only protein 1; cPOP1; cellular POP1", "protein_names_refseq": "PAAD-only protein 1; PYD (pyrin domain) containing 1; cellular POP1; pyrin domain-containing protein 1; pyrin-only protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:260434)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11786556;12153040;12656673;16403450;16905547;17178784;23519807;24871464;26510601;28005267;34294014;40596516", "class_list": "", "function": "ASC2 is a pyrin domain-only protein that regulates inflammatory signaling, [RefSeq, PubMed]; Analysis of the 3D structure of human ASC2 protein involved in apoptosis and inflammation, [RefSeq, PubMed]; Associates with PYCARD/ASC and modulates its ability to collaborate with MEFV/pyrin and NLRP3/cryopyrin in NF-kappa-B and pro-caspase-1 activation. Suppresses kinase activity of NF-kappa-B inhibitor kinase (IKK) complex, expression of NF-kappa-B inducible genes and inhibits NF-kappa-B activation by cytokines and LPS., [UniProtKB, PubMed, PubMed]; Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet's disease susceptibility and clinical manifestations., [RefSeq, PubMed]; Changes in the tertiary structure of mutated pyrin B30.2 domain interrupting the formation of the pyrin-caspase-1 complex are related to the manifestations of Mediterranean familial fever., [RefSeq, PubMed]; NMR assignment of human ASC2, a self contained protein interaction domain involved in apoptosis and inflammation., [RefSeq, PubMed]; POP1/ASC2 associates with ASC via PAAD-PAAD interactions and modulates NF-kappa B and pro-caspase-1 regulation by this adapter protein, [RefSeq, PubMed]; PYDC1 expression is significantly downregulated in human masticatory mucosa during wound healing, [RefSeq, PubMed]; X-ray diffraction data were collected to a resolution of 3.6 A from a crystal belonging to the cubic space group P23 with unit-cell parameters a=b=c=94.12 A, alpha=beta=gamma=90.00 degrees ., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R8L4;Q8NFP8", "ec_number_list": [], "go_molecular_function": "GO:0030291 protein serine/threonine kinase inhibitor activity;GO:0120283 protein serine/threonine kinase binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0008385 IkappaB kinase complex", "go_biological_process": "GO:2000660 negative regulation of interleukin-1-mediated signaling pathway;GO:0045087 innate immune response;GO:0043124 negative regulation of canonical NF-kappaB signal transduction;GO:0010804 negative regulation of tumor necrosis factor-mediated signaling pathway;GO:0032731 positive regulation of interleukin-1 beta production", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q8WXC3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92928-1", "uniprot_id": [ { "id": "RAB1C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92928", "type": "external" } ], "mass": 22017.0, "length": 201, "protein_name": "Putative Ras-related protein Rab-1C", "gene_name": "RAB1C", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RAB1C", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative Ras-related protein Rab-1C; 3.6.5.2; hRab1c", "protein_names_refseq": "", "tax_id": 9606, "disease": "colorectal cancer (Disease Ontology:DOID:9256)", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "21822290;22158903;27846572;30315122;31844290;32350084;32357974;32974215;33537174;37217939;9030196", "class_list": "", "function": "Protein transport. Probably involved in vesicular traffic (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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:1903020 positive regulation of glycoprotein metabolic process;GO:0000045 autophagosome assembly;GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0007030 Golgi organization", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q92928-1", "record_type": "protein", "filter_code": "0000000.0000110.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96E17-1", "uniprot_id": [ { "id": "RAB3C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96E17", "type": "external" } ], "mass": 25952.0, "length": 227, "protein_name": "Ras-related protein Rab-3C", "gene_name": "RAB3C", "organism": "Human", "refseq_name": "ras-related protein Rab-3C isoform 2", "refseq_ac": [ { "id": "NP_001304844", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304844", "type": "external" } ], "gene_names_uniprotkb": "RAB3C", "gene_names_refseq": "RAB3C", "protein_names_uniprotkb": "Ras-related protein Rab-3C; 3.6.5.2", "protein_names_refseq": "ras-related protein Rab-3C isoform 2; ras-related protein Rab-3C", "tax_id": 9606, "disease": "Smith-McCort dysplasia (Disease Ontology:DOID:0060247); Dyggve-Melchior-Clausen disease (Disease Ontology:DOID:0111167); alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:115827); (R-HSA-8873719)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "11141079;11389151;11447212;11675392;12296628;16401880;1648736;17114793;17411337;18452278;18532927;19603039;19717423;22694141;24023390;25341920;26969162;28784136;29125462;29437277;29557506;31154438;31844290;32897882;32938616;32983136;35871249;36241641;36652260;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8836150", "class_list": "", "function": "Cloning, mapping, and characterization; expressed in the brain, placenta, and lung; maps to chromosome 5q13, [RefSeq, PubMed]; Overexpression of synaptic vesicle protein Rab GTPase 3C promotes vesicular exocytosis and drug resistance in colorectal cancer cells., [RefSeq, PubMed]; Rab3b/3c-positive recycling vesicles are involved in and may constitute one of the recycling compartments in exogenous antigen cross-presentation., [RefSeq, PubMed]; Studied role of RAB3C overexpression in tumor metastasis and poor prognosis of colorectal cancer. Found RAB3c is associated with modulating exocytosis of IL-6 in cancer cells, leading to activation of the IL6-JAK2-STAT3 pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion., [UniProtKB, UniProtKB]; This gene is a member of the RAS oncogene family and encodes a small GTPase. Other similar small GTPases are known to be involved in vesicle trafficking, and the encoded protein was shown to play a role in recycling phagocytosed MHC class 1 complexes to the cell surface. Two transcript variants encoding different isoforms 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 6, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "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:0030742 GTP-dependent protein binding;GO:0031489 myosin V binding", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0031982 vesicle;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0015031 protein transport;GO:0006887 exocytosis;GO:0019882 antigen processing and presentation", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q96E17-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRI6-1", "uniprot_id": [ { "id": "PYY2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRI6", "type": "external" } ], "mass": 3432.0, "length": 33, "protein_name": "Putative peptide YY-2", "gene_name": "PYY2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "PYY2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative peptide YY-2; Putative peptide YY2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 1, "publication_id_list": "10756099", "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:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q9NRI6-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9ULC3-1", "uniprot_id": [ { "id": "RAB23_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9ULC3", "type": "external" } ], "mass": 26659.0, "length": 237, "protein_name": "Ras-related protein Rab-23", "gene_name": "RAB23", "organism": "Human", "refseq_name": "ras-related protein Rab-23", "refseq_ac": [ { "id": "NP_001265595", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265595", "type": "external" } ], "gene_names_uniprotkb": "RAB23; HSPC137", "gene_names_refseq": "CRPT1; HSPC137; RAB23", "protein_names_uniprotkb": "Ras-related protein Rab-23; 3.6.5.2", "protein_names_refseq": "RAB family small GTP binding protein RAB 23; ras-related protein Rab-23", "tax_id": 9606, "disease": "Carpenter syndrome (Disease Ontology:DOID:0060234); Carpenter syndrome 1 (Disease Ontology:DOID:0061098)", "pathway": " (hsa:51715); (R-HSA-8873719)", "pathway_count": 2, "publication_count": 66, "publication_id_list": "10.1101/2023.09.13.557529;11141079;11389151;11447212;11675392;16401880;1648736;17114793;17373734;17411337;17503333;18532927;19603039;20068231;21255211;21412941;22365972;22452336;22694141;23186163;24023390;25341920;25576301;25892735;26182404;26969162;27846572;28832583;28904123;29393594;29508533;29769354;29786170;30429286;30779550;30833945;31844290;32157095;32161166;32357974;32938616;32983136;33537174;33592498;33717175;33968037;34087483;34171305;34357683;34748996;35051231;36010968;36284347;37884351;38093594;39615683;40825043;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8836150", "class_list": "", "function": "Biomarker of Pulmonary Inflammatory Response in LUAD: miR-584-5p Targets RAB23 to Suppress Inflammation Induced by LPS in A549 Cells., [RefSeq, PubMed]; Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay, [RefSeq, PubMed]; Downregulation of Rab23 inhibits hepatocellular carcinoma by repressing SHH signaling pathway., [RefSeq, PubMed]; Expansion of the phenotypic and mutational spectrum of Carpenter syndrome., [RefSeq, PubMed]; Rab23 is overexpressed and/or activated in hepatocellular carcinoma (HCC). Rab23 may be both a HCC predictor and a target for treating HCC., [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. In conjunction with IFT57 and KIF17, it drives the localization of specific G protein-coupled receptors, such as the dopamime receptor DRD1, to primary cilia (PubMed:26182404). Has a critical role in the formation and elongation of neuronal primary cilia, thereby impacting the activation of sonic hedgehog (Shh) signaling (PubMed:40825043). Additionally, it is involved in the down-regulation of Shh signaling by cooperating with SUFU to prevent the nuclear import of GLI1 transcription factor, thus suppressing its transcriptional activity (PubMed:22365972) (PubMed:39615683). Regulates GLI1 in differentiating chondrocytes. Likewise, regulates GLI3 proteolytic processing and modulates GLI2 and GLI3 transcription factor activity. Plays a role in autophagic vacuole assembly, and mediates defense against pathogens, such as S.aureus, by promoting their capture by autophagosomes that then merge with lysosomes (PubMed:22452336)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including autophagy and immune response to bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as cancer. 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": 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": 13, "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": "B2R9I5;Q68DJ6;Q8NI06;Q9P023", "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:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0012505 endomembrane system;GO:0030670 phagocytic vesicle membrane", "go_biological_process": "GO:0097094 craniofacial suture morphogenesis;GO:0000045 autophagosome assembly;GO:0006886 intracellular protein transport;GO:0006968 cellular defense response;GO:0032880 regulation of protein localization", "synthesized_glycan_count": 0, "hit_score": 6.9, "record_id": "Q9ULC3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6C5-1", "uniprot_id": [ { "id": "PTC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6C5", "type": "external" } ], "mass": 130544.0, "length": 1203, "protein_name": "Protein patched homolog 2", "gene_name": "PTCH2", "organism": "Human", "refseq_name": "protein patched homolog 2 isoform 2", "refseq_ac": [ { "id": "NP_001159764", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159764", "type": "external" } ], "gene_names_uniprotkb": "PTCH2; PRO57079", "gene_names_refseq": "PTC2; PTCH2; SLC65B2", "protein_names_uniprotkb": "Protein patched homolog 2; PTC2", "protein_names_refseq": "protein patched homolog 2 isoform 2; protein patched homolog 2", "tax_id": 9606, "disease": "medulloblastoma (Disease Ontology:DOID:0050902); coloboma (Disease Ontology:DOID:12270); neurodegenerative disease (Disease Ontology:DOID:1289); Parkinson's disease (Disease Ontology:DOID:14330); basal cell carcinoma (Disease Ontology:DOID:2513); basal cell carcinoma, susceptibility to, 1 (MONDO:MONDO:0011556)", "pathway": " (hsa:8643); (R-HSA-373080)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10029063;10097073;11237011;11297558;12098667;12559132;12975309;14613484;15498814;16602827;18285427;18452278;18801728;19208383;20966082;26768311;29557506;29789417;31092671;31154438;31844290;32161166;32350084;32938616;34990798;35051231;35580925;36027694;3616618;36228153;37217939;38360123;6950381;7797535;8082781;8198617;8386612;8397094;8557170;8612563;8732687;8770894;8906787;9064337;9811851;9931336", "class_list": "", "function": "A susceptibility locus on 1p32-1p34 for congenital macrostomia in a Chinese family and identification of a novel PTCH2 mutation are reported., [RefSeq, PubMed]; Identification of rare variants in PTCH2 associated with non-syndromic orofacial clefts., [RefSeq, PubMed]; Inherited rare and common variants in PTCH1 and PTCH2 contributing to the predisposition to reproductive cancers., [RefSeq, PubMed]; Negative regulator of the smoothened signaling pathway, which acts as a receptor for hedgehog (SHH, IHH and DHH) morphogens (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. Hedgehog-binding inhibits PTCH1 cholesterol transporter activity, promoting SMO activation by cholesterol and transduction of the smoothened signaling pathway. 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 (By similarity). In contrast to PTCH1 ortholog, PTCH2 is not essential for viability and plays a more limited role. Plays a role in epidermal homeostasis in mature skin (By similarity). Plays a role in the control of cellular growth (PubMed:18285427)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB]; PTCH2 (2157G-->A), a novel missense mutation, underlies NBCCS, resulting in the loss of PTCH2 inhibitory function in the Shh signalling pathway., [RefSeq, PubMed]; PTCH2 isoforms have distinct roles in Hedgehog signalling., [RefSeq, PubMed]; Reduced PTCH2 expression is associated with glioma development through its regulation of the PTEN/AKT signaling pathway., [RefSeq, PubMed]; This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 32, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O95341;O95856;Q53Z57;Q5QP87;Q6UX14", "ec_number_list": [], "go_molecular_function": "GO:0097108 hedgehog family protein binding;GO:0008158 hedgehog receptor activity;GO:0005119 smoothened binding", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0001558 regulation of cell growth;GO:0045879 negative regulation of smoothened signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q9Y6C5-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NLU0-1", "uniprot_id": [ { "id": "RFPLA_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NLU0", "type": "external" } ], "mass": 32238.0, "length": 287, "protein_name": "Ret finger protein-like 4A", "gene_name": "RFPL4A", "organism": "Human", "refseq_name": "ret finger protein-like 4A", "refseq_ac": [ { "id": "NP_001138486", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138486", "type": "external" } ], "gene_names_uniprotkb": "RFPL4A; RFPL4; RNF210", "gene_names_refseq": "RFPL4A; RFPL4; RNF210", "protein_names_uniprotkb": "Ret finger protein-like 4A; RING finger protein 210", "protein_names_refseq": "RING finger protein 210; ret finger protein-like 4A; ret finger protein-like 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:342931)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11850190;16364311;25605732;33592498;35051231", "class_list": "", "function": "The ret finger protein-like 4 gene, Rfpl4, encodes a putative E3 ubiquitin-protein ligase expressed in adult germ cells., [RefSeq, PubMed]; These results indicate that RFPL4A is a novel factor that increases the G1 population and decreases sensitivity to chemotherapy and thus may be a promising therapeutic target for refractory tumor conditions., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0045087 innate immune response;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "A6NLU0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15034-1", "uniprot_id": [ { "id": "RIMB2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15034", "type": "external" } ], "mass": 116026.0, "length": 1052, "protein_name": "RIMS-binding protein 2", "gene_name": "RIMBP2", "organism": "Human", "refseq_name": "RIMS-binding protein 2 isoform e", "refseq_ac": [ { "id": "NP_056162", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056162", "type": "external" } ], "gene_names_uniprotkb": "RIMBP2; KIAA0318; RBP2", "gene_names_refseq": "PPP1R133; RBP2; RIM-BP2; RIMBP2", "protein_names_uniprotkb": "RIMS-binding protein 2; RIM-BP2", "protein_names_refseq": "RIM binding protein 2; RIMS-binding protein 2 isoform e; protein phosphatase 1, regulatory subunit 133", "tax_id": 9606, "disease": "", "pathway": " (hsa:23504)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;17855024;24715725;28657654;28904123;30573663;31530632;31844290;33298915;33968037;35051231;35580925;37573005", "class_list": "", "function": "Plays a role in the synaptic transmission as bifunctional linker that interacts simultaneously with RIMS1, RIMS2, CACNA1D and CACNA1B., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; RIMBP2 is identified in humans, [RefSeq, PubMed]; TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons., [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": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 49, "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": "Q96ID2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse", "go_biological_process": "GO:0007274 neuromuscular synaptic transmission", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "O15034-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43182-1", "uniprot_id": [ { "id": "RHG06_HUMAN", "url": "https://www.uniprot.org/uniprot/O43182", "type": "external" } ], "mass": 105947.0, "length": 974, "protein_name": "Rho GTPase-activating protein 6", "gene_name": "ARHGAP6", "organism": "Human", "refseq_name": "rho GTPase-activating protein 6 isoform 6", "refseq_ac": [ { "id": "NP_001274171", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274171", "type": "external" } ], "gene_names_uniprotkb": "ARHGAP6; RHOGAP6", "gene_names_refseq": "ARHGAP6; RHOGAP6; RHOGAPX-1", "protein_names_uniprotkb": "Rho GTPase-activating protein 6; Rho-type GTPase-activating protein 6; Rho-type GTPase-activating protein RhoGAPX-1", "protein_names_refseq": "Rho-type GTPase-activating protein RhoGAPX-1; rho GTPase-activating protein 6 isoform 6; rho GTPase-activating protein 6; rho-type GTPase-activating protein 6", "tax_id": 9606, "disease": "microphthalmia (Disease Ontology:DOID:10629); long QT syndrome (Disease Ontology:DOID:2843)", "pathway": " (hsa:395); (R-HSA-8980692); (R-HSA-9013423)", "pathway_count": 3, "publication_count": 194, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10618392;10619026;10699171;10873388;11058585;11085924;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;11956649;12071859;12093360;12195014;12221077;12221096;12531887;12650940;12857875;12877655;14512443;14675773;15023524;15064355;15107133;15302923;15342493;15485661;15601624;15611138;15850391;15866170;16112081;16116428;16184169;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;17077126;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18077418;18088087;18158243;18218625;18434237;18697831;18829452;19269969;19494238;19534724;19605563;19635168;19651622;19673492;19713215;19913121;20030946;20058876;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21454492;21565175;21699497;21865595;21936715;22096251;22298643;22305756;22673745;22911862;22992742;23186163;23200924;23255595;23434736;23572525;23870313;24086303;24128008;24259668;24335996;24352656;24933155;25211221;25704760;25862245;26371245;26529257;26628301;26887924;26992070;27145964;27216196;27481945;27713499;27986909;28112683;28196833;28228285;28356423;28584191;28832583;29146911;29242379;29557506;30315122;31105010;31154438;31217245;31844290;31848261;31871319;32203420;32938616;33717175;33912179;34338998;34561969;35051231;35580925;36581221;36715867;37409526;38287795;7479768;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8756646;8769096;8807639;8810315;8816443;8939998;9013646;9111050;9113980;9252344;9305890;9417914;9418861;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970", "class_list": "", "function": "ARHGAP6 Suppresses Breast Cancer Tumor Growth by Promoting Ferroptosis via RhoA-ROCK1-p38 MAPK Signaling., [RefSeq, PubMed]; ARHGAP6 inhibits bladder cancer cell viability, migration, and invasion via beta-catenin signaling and enhances mitomycin C sensitivity., [RefSeq, PubMed]; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Could regulate the interactions of signaling molecules with the actin cytoskeleton. Promotes continuous elongation of cytoplasmic processes during cell motility and simultaneous retraction of the cell body changing the cell morphology., [UniProtKB, PubMed]; Human ARHGAP6 protein possessing GTPase stimulating activity for RhoA on the catalytic properties of PLC-delta1, was studied., [RefSeq, PubMed]; MiR-96-5p is an oncogene in lung adenocarcinoma and facilitates tumor progression through ARHGAP6 downregulation., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; RhoGAP6 interacts with COPI to regulate protein transport., [RefSeq, PubMed]; This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-activating protein with specificity for RhoA, and another as a cytoskeletal protein that promotes actin remodeling. Multiple 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 16, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "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": "B2RWQ0;O43437;Q9P1B3;Q9UK81;Q9UK82", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0017124 SH3 domain binding;GO:0016004 phospholipase activator activity;GO:0043274 phospholipase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005884 actin filament;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0007015 actin filament organization;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0007266 Rho protein signal transduction;GO:0051895 negative regulation of focal adhesion assembly;GO:0030041 actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 19.5, "record_id": "O43182-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75628-1", "uniprot_id": [ { "id": "REM1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75628", "type": "external" } ], "mass": 32947.0, "length": 298, "protein_name": "GTP-binding protein REM 1", "gene_name": "REM1", "organism": "Human", "refseq_name": "GTP-binding protein REM 1", "refseq_ac": [ { "id": "NP_054731", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054731", "type": "external" } ], "gene_names_uniprotkb": "REM1; GES; REM", "gene_names_refseq": "GD:REM; GES; REM1", "protein_names_uniprotkb": "GTP-binding protein REM 1; GTPase-regulating endothelial cell sprouting; Rad and Gem-like GTP-binding protein 1", "protein_names_refseq": "GTP-binding protein REM 1; GTPase-regulating endothelial cell sprouting; RAS (RAD and GEM)-like GTP-binding 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:28954)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "10831614;16648185;17686775;22076634;28832583;33936100;35051231;35254053", "class_list": "", "function": "A role for the Rem C terminus in plasma membrane localization through association with phosphatidylinositol lipids., [RefSeq, PubMed]; Promotes endothelial cell sprouting and actin cytoskeletal reorganization. May be involved in angiogenesis. May function in Ca(2+) signaling., [UniProtKB]; The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008]., [RefSeq]; We conclude that Rem is capable of regulating L-type current, that release of Rem block is modulated by cellular kinase pathways, and that the Ca(V)1.2 COOH terminus contributes to Rem-dependent channel inhibition., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 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": "E1P5L1;Q5TZR7;Q5TZR8;Q9NP57", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005516 calmodulin binding;GO:0005525 GTP binding;GO:0005246 calcium channel regulator activity;GO:0044325 transmembrane transporter binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031674 I band;GO:0030315 T-tubule", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "O75628-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75783-1", "uniprot_id": [ { "id": "RHBL1_HUMAN", "url": "https://www.uniprot.org/uniprot/O75783", "type": "external" } ], "mass": 48314.0, "length": 438, "protein_name": "Rhomboid-related protein 1", "gene_name": "RHBDL1", "organism": "Human", "refseq_name": "rhomboid-related protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001265649", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265649", "type": "external" } ], "gene_names_uniprotkb": "RHBDL1; RHBDL", "gene_names_refseq": "RHBDL1; RHBDL; RRP", "protein_names_uniprotkb": "Rhomboid-related protein 1; 3.4.21.105; RRP; Rhomboid-like protein 1", "protein_names_refseq": "rhomboid, drosophila, homolog of; rhomboid, veinlet-like 1; rhomboid-like protein 1; rhomboid-related protein 1 isoform 1; rhomboid-related protein 1", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:9028)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;26109405;29314611;31844290;34087483;35051231;9662444", "class_list": "", "function": "May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors., [UniProtKB, UniProtKB]; Regulator of proteosome activity independent of enzymatic activity (PubMed:26109405). May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors., [UniProtKB, PubMed]; This gene encodes a protein similar to Rhomboid in Drosophila which is involved in signalling in the Spitz/epidermal growth factor receptor/mitogen-activated protein kinase pathway. The Rhomboid family of proteins consists of intramembrane serine proteases containing several transmembrane domains. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 0, "reported_mutagensis": 1, "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": "A2IDC0;A2IDC1;Q0VAX4;Q9NQ85", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0006508 proteolysis;GO:0007165 signal transduction", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "O75783-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94762-1", "uniprot_id": [ { "id": "RECQ5_HUMAN", "url": "https://www.uniprot.org/uniprot/O94762", "type": "external" } ], "mass": 108858.0, "length": 991, "protein_name": "ATP-dependent DNA helicase Q5", "gene_name": "RECQL5", "organism": "Human", "refseq_name": "ATP-dependent DNA helicase Q5 isoform 2", "refseq_ac": [ { "id": "NP_001003715", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003715", "type": "external" } ], "gene_names_uniprotkb": "RECQL5; RECQ5", "gene_names_refseq": "RECQ5; RECQL5", "protein_names_uniprotkb": "ATP-dependent DNA helicase Q5; 5.6.2.4; DNA 3'-5' helicase RecQ5; DNA helicase, RecQ-like type 5; RecQ protein-like 5; RecQ5", "protein_names_refseq": "ATP-dependent DNA helicase Q5 isoform 2; ATP-dependent DNA helicase Q5; DNA 3'-5' helicase RecQ5; DNA helicase, RecQ-like type 5; RecQ helicase-like 5; RecQ protein-like 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:9400)", "pathway_count": 1, "publication_count": 70, "publication_id_list": "10471747;10710432;11230166;11237011;15241474;18669648;19007248;19651622;19664994;20068231;20231364;20348101;20643585;22013166;22973052;23180761;23186163;23481700;23715498;23748380;24275569;24397554;24714562;25418920;25645385;25892735;26154972;26375851;26728094;26811146;26992070;27502483;28100692;28575661;28904123;29437277;29557506;30315122;30379171;30410026;30429286;30779550;30833945;31092671;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32938616;33298915;33332547;33431668;33567180;33592498;33717175;33912179;33968037;33981976;34171305;34822842;35051231;35580925;36010968;38253038;38874681;40596516;9878247", "class_list": "", "function": "ATRX and RECQ5 define distinct homologous recombination subpathways., [RefSeq, PubMed]; DNA helicase that plays an important role in DNA replication, transcription and repair (PubMed:20643585, PubMed:22973052, PubMed:28100692). Probably unwinds DNA in a 3'-5' direction (Probable) (PubMed:28100692). Binds to the RNA polymerase II subunit POLR2A during transcription elongation and suppresses transcription-associated genomic instability (PubMed:20231364). Also associates with POLR1A and enforces the stability of ribosomal DNA arrays (PubMed:27502483). Plays an important role in mitotic chromosome separation after cross-over events and cell cycle progress (PubMed:22013166). Mechanistically, removes RAD51 filaments protecting stalled replication forks at common fragile sites and stimulates MUS81-EME1 endonuclease leading to mitotic DNA synthesis (PubMed:28575661). Required for efficient DNA repair, including repair of inter-strand cross-links (PubMed:23715498). Stimulates DNA decatenation mediated by TOP2A. Prevents sister chromatid exchange and homologous recombination. A core helicase fragment (residues 11-609) binds preferentially to splayed duplex, looped and ssDNA (PubMed:28100692)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Human RecQ helicases in transcription-associated stress management: bridging the gap between DNA and RNA metabolism. Review article Publication Status: Online-Only, [RefSeq, PubMed]; RECQ5 is a protein with DNA helicase and strand-annealing activities in a single polypeptide., [RefSeq, PubMed]; RecQ helicase expression in patients with telomeropathies. Publication Status: Online-Only, [RefSeq, PubMed]; Single-molecule visualization of human RECQ5 interactions with single-stranded DNA recombination intermediates. Erratum:[Nucleic Acids Res. 2024 Jun 10;52(10):6093. doi: 10.1093/nar/gkae352. PMID: 38686812], [RefSeq, PubMed]; The deubiquitinase USP28 stabilizes the expression of RecQ family helicases and maintains the viability of triple negative breast cancer cells., [RefSeq, PubMed]; The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 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": 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": 21, "reported_glycation": 0, "reported_snv": 21, "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": "Q6P4G0;Q9H0B1;Q9P1W7;Q9UNC8", "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:0043138 3'-5' DNA helicase activity;GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0042802 identical protein binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0097550 transcription preinitiation complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0000278 mitotic cell cycle;GO:0006281 DNA repair;GO:0051301 cell division;GO:0006260 DNA replication;GO:0006259 DNA metabolic process", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "O94762-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05451-1", "uniprot_id": [ { "id": "REG1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P05451", "type": "external" } ], "mass": 18731.0, "length": 166, "protein_name": "Lithostathine-1-alpha", "gene_name": "REG1A", "organism": "Human", "refseq_name": "lithostathine-1-alpha precursor", "refseq_ac": [ { "id": "NP_002900", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002900", "type": "external" } ], "gene_names_uniprotkb": "REG1A; PSPS1; PSPS; REG", "gene_names_refseq": "ICRF; P19; PSPS1; PSPS; PSP; PTP; REG1A; REG", "protein_names_uniprotkb": "Lithostathine-1-alpha; ICRF; Islet cells regeneration factor; Islet of Langerhans regenerating protein; PSP; PTP; Pancreatic stone protein; Pancreatic thread protein; REG-1-alpha; REG; Regenerating islet-derived protein 1-alpha; Regenerating protein I alpha", "protein_names_refseq": "REG-1-alpha; islet cells regeneration factor; islet of langerhans regenerating protein; lithostathine-1-alpha precursor; lithostathine-1-alpha; pancreatic stone protein, secretory; pancreatic thread protein; protein-X; regenerating islet-derived protein 1-alpha; regenerating protein I alpha", "tax_id": 9606, "disease": "chronic pancreatitis (Disease Ontology:DOID:0051065); Alzheimer's disease (Disease Ontology:DOID:10652); Sjogren's syndrome (Disease Ontology:DOID:12894); colon cancer (Disease Ontology:DOID:219); cholangiocarcinoma (Disease Ontology:DOID:4947); myocardial infarction (Disease Ontology:DOID:5844); type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:5967); (R-HSA-9925561)", "pathway_count": 2, "publication_count": 21, "publication_id_list": "10625646;15340161;2226837;2332435;2394826;2493268;2525567;2764894;29331515;29557506;2963000;3108036;32702400;33513463;3541906;36111942;3665916;37531162;3908481;8654365;8961348", "class_list": "glycogene", "function": "Carboxypeptidase A1 and regenerating islet-derived 1alpha as new markers for pancreatic acinar cell carcinoma., [RefSeq, PubMed]; Might act as an inhibitor of spontaneous calcium carbonate precipitation. May be associated with neuronal sprouting in brain, and with brain and pancreas regeneration., [UniProtKB]; Protective and anti-inflammatory role of REG1A in inflammatory bowel disease induced by JAK/STAT3 signaling axis., [RefSeq, PubMed]; REG1A protects retinal photoreceptors from blue light damage., [RefSeq, PubMed]; The role of pancreatic stone protein as a prognostic factor for COVID-19 patients., [RefSeq, PubMed]; This gene is a type I subclass member of the Reg gene family. The Reg gene family is a multigene family grouped into four subclasses, types I, II, III and IV, based on the primary structures of the encoded proteins. This gene encodes a protein that is secreted by the exocrine pancreas. It is associated with islet cell regeneration and diabetogenesis and may be involved in pancreatic lithogenesis. Reg family members REG1B, REGL, PAP and this gene are tandemly clustered on chromosome 2p12 and may have arisen from the same ancestral gene by gene duplication. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 284, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 7, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "P11379;Q4ZG28", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding;GO:0005179 hormone activity;GO:0008083 growth factor activity;GO:0140678 molecular function inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0043434 response to peptide hormone", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "P05451-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09455-1", "uniprot_id": [ { "id": "RET1_HUMAN", "url": "https://www.uniprot.org/uniprot/P09455", "type": "external" } ], "mass": 15850.0, "length": 135, "protein_name": "Retinol-binding protein 1", "gene_name": "RBP1", "organism": "Human", "refseq_name": "retinol-binding protein 1 isoform b", "refseq_ac": [ { "id": "NP_001124464", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124464", "type": "external" } ], "gene_names_uniprotkb": "RBP1; CRBP1", "gene_names_refseq": "CRABP-I; CRBP1; CRBPI; CRBP; RBP1; RBPC; hCRBP1", "protein_names_uniprotkb": "Retinol-binding protein 1; CRBP-I; CRBP; Cellular retinol-binding protein I; Cellular retinol-binding protein", "protein_names_refseq": "cellular retinol binding protein 1; cellular retinol-binding protein I; retinol-binding protein 1 isoform b; retinol-binding protein 1, cellular", "tax_id": 9606, "disease": "multiple myeloma (Disease Ontology:DOID:9538)", "pathway": " (hsa:5947); (R-HSA-2453902); (R-HSA-975634); (R-HSA-9918442)", "pathway_count": 4, "publication_count": 94, "publication_id_list": "10052934;10075733;10617778;10753906;10769148;11060341;11123914;11181758;11237011;11274389;11381255;12036956;12177057;12407145;1279089;15314061;15358783;1542003;15471866;15583000;15632377;15865448;16200213;16939223;17011878;17255476;17525477;17644776;18055821;18087047;18295589;18460466;18507396;1856611;19014918;19049981;19139408;1925597;19309693;20006823;20192770;21106934;21493626;21774515;21851338;22665496;2303470;24106281;24129315;2542268;26900151;2793848;28057518;28514659;2856408;29557506;29786170;2992469;3170584;31844290;31848261;3356192;34866280;34990753;35253263;35269414;3714052;37938771;39407127;3942763;4345202;5057882;5315589;5675424;6288450;6342691;6420172;6512705;6589631;6679757;6961410;7683668;7929238;8017323;8105993;8384721;8728311;8884265;9490294;9541407;9703434;9888420;9920938;9925661", "class_list": "", "function": "Altered RBP1 Gene Expression Impacts Epithelial Cell Retinoic Acid, Proliferation, and Microenvironment. Publication Status: Online-Only, [RefSeq, PubMed]; Cytoplasmic retinol-binding protein (PubMed:22665496, PubMed:26900151, PubMed:28057518). Accepts retinol from the transport protein STRA6, and thereby contributes to retinol uptake, storage and retinoid homeostasis (PubMed:15632377, PubMed:22665496)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; MicroRNA-20a-5p inhibits the autophagy and cisplatin resistance in ovarian cancer via regulating DNMT3B-mediated DNA methylation of RBP1., [RefSeq, PubMed]; Retinol binding protein 1-dependent activation of NF- kappaB signaling enhances the malignancy of non-glioblastomatous diffuse gliomas., [RefSeq, PubMed]; Retinol-binding protein type 1 expression predicts poor prognosis in head and neck squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Role of cellular retinol-binding protein, type 1 and retinoid homeostasis in the adult mouse heart: A multi-omic approach., [RefSeq, PubMed]; This gene encodes the carrier protein involved in the transport of retinol (vitamin A alcohol) from the liver storage site to peripheral tissue. Vitamin A is a fat-soluble vitamin necessary for growth, reproduction, differentiation of epithelial tissues, and vision. Multiple transcript variants encoding different isoforms have been found for this gene. [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": 7, "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": "A8K2Q0;B7Z7A0;E7EWV0;F2Z2F2;Q6FGX8", "ec_number_list": [], "go_molecular_function": "GO:0005504 fatty acid binding;GO:0016918 retinal binding;GO:0005501 retinoid binding;GO:1904768 all-trans-retinol binding;GO:0140104 molecular carrier activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005811 lipid droplet;GO:0005829 cytosol", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0055088 lipid homeostasis;GO:0015908 fatty acid transport;GO:0002138 retinoic acid biosynthetic process;GO:0006776 vitamin A metabolic process", "synthesized_glycan_count": 0, "hit_score": 9.5, "record_id": "P09455-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P61576-1", "uniprot_id": [ { "id": "REC04_HUMAN", "url": "https://www.uniprot.org/uniprot/P61576", "type": "external" } ], "mass": 11735.0, "length": 105, "protein_name": "Endogenous retrovirus group K member 104 Rec protein", "gene_name": "HERV-K104", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "HERV-K104", "gene_names_refseq": "", "protein_names_uniprotkb": "Endogenous retrovirus group K member 104 Rec protein; HERV-K104 Rec protein; HERV-K_5q13.3 provirus Rec protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "10469592;15063128;33592498", "class_list": "", "function": "Retroviral replication requires the nuclear export and translation of unspliced, singly-spliced and multiply-spliced derivatives of the initial genomic transcript. Rec interacts with a highly structured RNA element (RcRE) present in the viral 3'LTR and recruits the cellular nuclear export machinery. This permits export to the cytoplasm of unspliced genomic or incompletely spliced subgenomic viral transcripts (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm", "go_biological_process": "GO:0051028 mRNA transport", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "P61576-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13156-1", "uniprot_id": [ { "id": "RFA4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13156", "type": "external" } ], "mass": 28868.0, "length": 261, "protein_name": "Replication protein A 30 kDa subunit", "gene_name": "RPA4", "organism": "Human", "refseq_name": "replication protein A 30 kDa subunit", "refseq_ac": [ { "id": "NP_037479", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037479", "type": "external" } ], "gene_names_uniprotkb": "RPA4", "gene_names_refseq": "HSU24186; RPA4", "protein_names_uniprotkb": "Replication protein A 30 kDa subunit; RF-A protein 4; RP-A p30; Replication factor A protein 4", "protein_names_refseq": "RF-A protein 4; RP-A p30; replication factor A protein 4; replication protein A 30 kDa subunit; replication protein A complex 34 kd subunit homolog Rpa4; replication protein A4, 30kDa; replication protein A4, 34kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:29935); (R-HSA-68962)", "pathway_count": 2, "publication_count": 20, "publication_id_list": "10373557;10518787;10523313;10757793;10846177;10882098;11095689;11125146;12045100;15929725;18676680;19116208;19942684;19996105;20545304;25231993;34171305;38253038;7760808;9660782", "class_list": "", "function": "As part of the alternative replication protein A complex, aRPA, binds single-stranded DNA and probably plays a role in DNA repair. Compared to the RPA2-containing, canonical RPA complex, may not support chromosomal DNA replication and cell cycle progression through S-phase. The aRPA may not promote efficient priming by DNA polymerase alpha but could support DNA polymerase delta synthesis in the presence of PCNA and replication factor C (RFC), the dual incision/excision reaction of nucleotide excision repair and RAD51-dependent strand exchange., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Findings provide the first direct evidence for the function of alternative form of RPA in human DNA metabolism and support a model for aRPA functioning in chromosome maintenance functions in nonproliferating cells., [RefSeq, PubMed]; Hyperphosphorylated replication protein A is preferentially localized to double-stranded break repair and the DNA damage checkpoint complexes in response to DNA damage., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; This gene encodes a single-stranded DNA-binding protein that is the 30-kDa subunit of the replication protein A complex. Replication protein A is an essential factor for DNA double-strand break repair and cell cycle checkpoint activation. The encoded protein localizes to DNA repair foci and may be involved in the cellular DNA damage response. This protein may also play a role in inhibiting viral replication.[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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q3SY03", "ec_number_list": [], "go_molecular_function": "GO:0042162 telomeric DNA binding;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0035861 site of double-strand break;GO:0005662 DNA replication factor A complex;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0006281 DNA repair;GO:0006260 DNA replication;GO:0000724 double-strand break repair via homologous recombination;GO:0000077 DNA damage checkpoint signaling;GO:0006270 DNA replication initiation", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q13156-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14CB8-1", "uniprot_id": [ { "id": "RHG19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14CB8", "type": "external" } ], "mass": 55756.0, "length": 494, "protein_name": "Rho GTPase-activating protein 19", "gene_name": "ARHGAP19", "organism": "Human", "refseq_name": "rho GTPase-activating protein 19 isoform 2", "refseq_ac": [ { "id": "NP_001191229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191229", "type": "external" } ], "gene_names_uniprotkb": "ARHGAP19", "gene_names_refseq": "ARHGAP19; CMT2KK", "protein_names_uniprotkb": "Rho GTPase-activating protein 19; Rho-type GTPase-activating protein 19", "protein_names_refseq": "putative RhoGAP protein; rho GTPase-activating protein 19 isoform 2; rho-type GTPase-activating protein 19", "tax_id": 9606, "disease": "Charcot-Marie-Tooth disease type 2KK (Disease Ontology:DOID:0061251)", "pathway": " (hsa:84986); (R-HSA-8980692)", "pathway_count": 2, "publication_count": 208, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12531887;12650940;12857875;12877655;14512443;15023524;15064355;15107133;15302923;15342493;15485661;15601624;15611138;15850391;15866170;16112081;16116428;16184169;16217026;16385451;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;17077126;17454002;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18669648;18829452;19494238;19605563;19635168;19673492;19690332;19713215;20030946;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21454492;21565175;21699497;21865595;21936715;22096251;22298643;22305756;22673745;22911862;22992742;23186163;23200924;23255595;23434736;23481700;23572525;23870313;24086303;24128008;24259668;24335996;24352656;24715725;24933155;25211221;25576301;25704760;26154972;26371245;26529257;26811146;26887924;26992070;27145964;27216196;27481945;27600516;27846572;27920218;27986909;28112683;28196833;28218747;28228285;28584191;28832583;28834231;28904123;29146911;29242379;29420299;29437277;29493099;29557506;29632711;30315122;30410026;30524438;31105010;31844290;31871319;32203420;32357974;32387766;32488085;32502341;32897882;33141586;33298915;33392160;33407571;33691108;33912179;33936100;33968037;34087483;34296808;34509645;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;41086021;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": "GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state., [UniProtKB, UniProtKB]; Has GTPase activator activity toward RHOA; RHOA activation results in GTP hydrolysis and conversion from an active GTP-bound to an inactive GDP-bound state (PubMed:24259668, PubMed:41086021). Lacks GTPase activator activity toward RAC1 or CDC42 (PubMed:24259668)., [UniProtKB, PubMed, PubMed]; Members of the ARHGAP family, such as ARHGAP19, encode negative regulators of Rho GTPases (see RHOA; MIM 165390), which are involved in cell migration, proliferation, and differentiation, actin remodeling, and G1 cell cycle progression (Lv et al., 2007 [PubMed 17454002]).[supplied by OMIM, Mar 2008]., [RefSeq]; MicroRNA-192-5p inhibits migration of triple negative breast cancer cells and directly regulates Rho GTPase activating protein 19., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Regulation of ARHGAP19 in the endometrial epithelium: a possible role in the establishment of uterine receptivity. Publication Status: Online-Only, [RefSeq, PubMed]; Sequence analysis of the ARHGAP19 gene and its genomic structure, expression profile and sub-cellular localization, [RefSeq, PubMed]; The docking of 14-3-3 proteins to phosphorylated S422 protects ARHGAP19 from dephosphorylation of the threonine sites and prevents ARHGAP19 from relocating to the plasma membrane during prophase and metaphase, thus allowing RhoA to become activated 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": 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": "A1XCP1;B4DZR1;Q14CF2;Q5J8M2;Q5T460;Q5T462;Q68DG6;Q8N9X1;Q8NF34;Q8TEK1", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 20.9, "record_id": "Q14CB8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15493-1", "uniprot_id": [ { "id": "RGN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15493", "type": "external" } ], "mass": 33253.0, "length": 299, "protein_name": "Regucalcin", "gene_name": "RGN", "organism": "Human", "refseq_name": "regucalcin isoform 2", "refseq_ac": [ { "id": "NP_001269777", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269777", "type": "external" } ], "gene_names_uniprotkb": "RGN; SMP30", "gene_names_refseq": "GNL; HEL-S-41; RC; RGN; SMP30", "protein_names_uniprotkb": "Regucalcin; 3.1.1.17; GNL; Gluconolactonase; RC; SMP-30; Senescence marker protein 30", "protein_names_refseq": "epididymis secretory protein Li 41; gluconolactonase; regucalcin isoform 2; senescence marker protein 30", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); familial hyperlipidemia (Disease Ontology:DOID:1168); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:9104)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "10677570;17081983;18491316;20329768;23349732;28514659;29314611;29557506;31154438;31844290;32157095;32350084;32488085;34357683;35251023;35494241;36284347;36442591;36656203;37001596;37468792;38246519;7548213", "class_list": "", "function": "Functional pleiotropy of calcium binding protein Regucalcin in signaling and diseases. Review article, [RefSeq, PubMed]; Gluconolactonase with low activity towards other sugar lactones, including gulonolactone and galactonolactone. Can also hydrolyze diisopropyl phosphorofluoridate and phenylacetate (in vitro). Calcium-binding protein. Modulates Ca(2+) signaling, and Ca(2+)-dependent cellular processes and enzyme activities (By similarity)., [UniProtKB]; Regucalcin downregulation in human cancer. Review article, [RefSeq, PubMed]; Senescence in oral lichen planus as assessed by the immunohistochemical evaluation of senescence marker protein-30 (Regucalcin)., [RefSeq, PubMed]; The inflammatory macrophages repress the growth of bone metastatic human prostate cancer cells via TNF-alpha and IL-6 signaling: Involvement of cell signaling regulator regucalcin., [RefSeq, PubMed]; The protein encoded by this gene is a highly conserved, calcium-binding protein, that is preferentially expressed in the liver and kidney. It may have an important role in calcium homeostasis. Studies in rat indicate that this protein may also play a role in aging, as it shows age-associated down-regulation. This gene is part of a gene cluster on chromosome Xp11.3-Xp11.23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]; Uroplakin 1a Interacts with Regucalcin and Proteasome Subunit Beta 1., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A4FTW1;A8K271;Q53FC9;Q5JRR5", "ec_number_list": [ { "id": "3.1.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.17", "type": "external" } ], "go_molecular_function": "GO:0004341 gluconolactonase activity;GO:0008270 zinc ion binding;GO:0005509 calcium ion binding;GO:0030234 enzyme regulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006874 intracellular calcium ion homeostasis;GO:0032781 positive regulation of ATP-dependent activity;GO:0019853 L-ascorbic acid biosynthetic process;GO:0050848 regulation of calcium-mediated signaling", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q15493-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2KHR2-3", "uniprot_id": [ { "id": "RFX7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2KHR2", "type": "external" } ], "mass": 157351.0, "length": 1460, "protein_name": "DNA-binding protein RFX7", "gene_name": "RFX7", "organism": "Human", "refseq_name": "DNA-binding protein RFX7 isoform 2", "refseq_ac": [ { "id": "NP_001355002", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001355002", "type": "external" } ], "gene_names_uniprotkb": "RFX7; RFXDC2", "gene_names_refseq": "MRD71; RFX7; RFXDC2", "protein_names_uniprotkb": "DNA-binding protein RFX7; Regulatory factor X 7; Regulatory factor X domain-containing protein 2", "protein_names_refseq": "DNA-binding protein RFX7 isoform 2; DNA-binding protein RFX7; regulatory factor X domain containing 2; regulatory factor X domain-containing protein 2; regulatory factor X, 7", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 71 with behavioral abnormalities (Disease Ontology:DOID:0061044)", "pathway": " (hsa:64864)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "15302935;18220336;18673564;18691976;19413330;19608861;19651622;19664994;19664995;19690332;20068231;21406692;23186163;25752541;26280087;27600516;27920218;28063628;28218747;28514659;28657654;28832583;28834231;29242379;29632046;29967452;30001391;30059200;30192525;30524438;31492838;31864703;32574038;33658631;34197623;35138101;35254053;35289036;36334883;37541260;38665916;39531497;39534244", "class_list": "", "function": "RFX7 is a member of the regulatory factor X (RFX) family of transcription factors (see RFX1, MIM 600006) (Aftab et al., 2008 [PubMed 18673564]).[supplied by OMIM, Mar 2009]., [RefSeq]; RFX7 is a winged helix transcription factor expressed ubiquitously in all tissues examined, especially brain tissue. Publication Status: Online-Only, [RefSeq, PubMed]; Structural basis for the recognition of RFX7 by ANKRA2 and RFXANK., [RefSeq, PubMed]; Transcription factor (PubMed:29967452). Acts as a transcriptional activator by binding to promoter regions of target genes, such as PDCD4, PIK3IP1, MXD4, PNRC1, and RFX5 (PubMed:29967452, PubMed:34197623). Plays a role in natural killer (NK) cell maintenance and immunity (PubMed:29967452). May play a role in the process of ciliogenesis in the neural tube and neural tube closure (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Transcription factor RFX7 governs a tumor suppressor network in response to p53 and stress., [RefSeq, PubMed]", "predicted_glycosites": 8, "predicted_n_glycosites": 0, "predicted_o_glycosites": 8, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 42, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "Q6ZRR1;Q6ZTY6;Q8N3J0;Q9H7A9;Q9H956", "ec_number_list": [], "go_molecular_function": "GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding;GO:0000979 RNA polymerase II core promoter 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:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q2KHR2-3", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JS13-1", "uniprot_id": [ { "id": "RGPS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JS13", "type": "external" } ], "mass": 62133.0, "length": 557, "protein_name": "Ras-specific guanine nucleotide-releasing factor RalGPS1", "gene_name": "RALGPS1", "organism": "Human", "refseq_name": "ras-specific guanine nucleotide-releasing factor RalGPS1 isoform 3", "refseq_ac": [ { "id": "NP_001177657", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177657", "type": "external" } ], "gene_names_uniprotkb": "RALGPS1; KIAA0351; RALGEF2", "gene_names_refseq": "RALGEF2; RALGPS1A; RALGPS1", "protein_names_uniprotkb": "Ras-specific guanine nucleotide-releasing factor RalGPS1; Ral GEF with PH domain and SH3-binding motif 1; Ral guanine nucleotide exchange factor 2; RalA exchange factor RalGPS1; RalGEF 2", "protein_names_refseq": "Ral guanine nucleotide exchange factor RalGPS1A; ral guanine nucleotide exchange factor 2; ralA exchange factor RalGPS1; ras-specific guanine nucleotide-releasing factor RalGPS1 isoform 3; ras-specific guanine nucleotide-releasing factor RalGPS1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9649)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "10747847;10889189;11237011;21494904;25576301;25892735;26992070;29485866;32157095;33537174;33912179;34185709;34745385;35051231;35580925;36010968", "class_list": "", "function": "Guanine nucleotide exchange factor (GEF) for the small GTPase RALA. May be involved in cytoskeletal organization (By similarity). Guanine nucleotide exchange factor for., [UniProtKB, PubMed, PubMed]; Ral GEF with the PH Domain and SH3 Binding Motif 1 Regulated by Splicing Factor Junction Plakoglobin and Pyrimidine Metabolism Are Prognostic in Uterine Carcinosarcoma. Publication Status: Online-Only, [RefSeq, PubMed]; The guanine-nucleotide exchange factor (GEF) RalGPS1a activates small GTPase Ral proteins such as RalA and RalB by stimulating the exchange of Ral bound GDP to GTP, thus regulating various downstream cellular processes., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 17, "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": "B4DR86;E9PBQ5;O15059;Q5JT60;Q5JT65;Q5JUG5;Q8N4S6;Q8N5H4;Q8WUV7;Q9NZ16", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane", "go_biological_process": "GO:0032485 regulation of Ral protein signal transduction;GO:0035556 intracellular signal transduction;GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q5JS13-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96QB1-2", "uniprot_id": [ { "id": "RHG07_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96QB1", "type": "external" } ], "mass": 170591.0, "length": 1528, "protein_name": "Rho GTPase-activating protein 7", "gene_name": "DLC1", "organism": "Human", "refseq_name": "rho GTPase-activating protein 7 isoform 4", "refseq_ac": [ { "id": "NP_001157743", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157743", "type": "external" } ], "gene_names_uniprotkb": "DLC1; ARHGAP7; KIAA1723; STARD12", "gene_names_refseq": "ARHGAP7; DLC1; HP; STARD12; p122-RhoGAP", "protein_names_uniprotkb": "Rho GTPase-activating protein 7; DLC-1; Deleted in liver cancer 1 protein; HP protein; Rho-type GTPase-activating protein 7; START domain-containing protein 12; StAR-related lipid transfer protein 12; StARD12", "protein_names_refseq": "Rho-GTPase-activating protein 7; START domain-containing protein 12; StAR-related lipid transfer (START) domain containing 12; deleted in liver cancer 1 protein; epididymis secretory sperm binding protein; rho GTPase-activating protein 7 isoform 4; rho GTPase-activating protein 7; rho-type GTPase-activating protein 7", "tax_id": 9606, "disease": "Graves ophthalmopathy (Disease Ontology:DOID:0081120); Alzheimer's disease (Disease Ontology:DOID:10652); prostatic hypertrophy (Disease Ontology:DOID:11132); pyelonephritis (Disease Ontology:DOID:11400); Graves' disease (Disease Ontology:DOID:12361); gonadal dysgenesis (Disease Ontology:DOID:14447); major depressive disorder (Disease Ontology:DOID:1470); pancreatic cancer (Disease Ontology:DOID:1793); asthma (Disease Ontology:DOID:2841); osteosarcoma (Disease Ontology:DOID:3347); Ebola virus disease (Disease Ontology:DOID:4325); rheumatoid arthritis (Disease Ontology:DOID:7148); genital herpes (Disease Ontology:DOID:8704); psoriasis (Disease Ontology:DOID:8893); colorectal cancer (Disease Ontology:DOID:9256); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:10395); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013406)", "pathway_count": 7, "publication_count": 382, "publication_id_list": "10037681;10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10619026;10649492;10699171;10699464;10724160;10873388;10873802;10958683;10967094;11007481;11058585;11085924;11149925;11185749;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;12242347;12351724;12432077;12456725;12464619;12473120;12531887;12545165;12546821;12547822;12645648;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;15546864;15579468;15601624;15611138;15728722;15850391;15858067;15866170;15897194;15944396;16002401;16112081;16116428;16184169;16217026;16243036;16338927;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16968698;17064668;17077126;17145773;17190795;17196961;17198702;17214551;17244649;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18786931;18802007;18829452;18835169;18838382;18929667;19158340;19170769;19258391;19269969;19317456;19494238;19605563;19635168;19664995;19673492;19710422;19713215;19826001;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20798394;20810653;21087603;21136679;21148482;21217778;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;24275569;24297911;24335996;24352656;24355937;24584464;24714562;24859002;24933155;24960694;24996924;25024229;25211221;25425145;25428919;25576301;25645385;25673874;25678704;25704760;25721503;25795300;25862245;25963737;26129894;26154972;26166433;26299518;26371245;26427649;26529257;26598554;26887924;26992070;27096001;27117132;27145964;27216196;27397612;27481945;27555588;27566826;27713499;27726376;27798618;27806292;27846572;27862975;27869121;27986909;28028151;28112683;28114311;28196833;28584191;28825699;28832583;28834231;28860633;29089502;29146911;29242379;29358323;29382922;29557506;29786170;30061681;30379171;30429286;30853411;31105010;31154438;31844290;31848261;31871319;32157095;32203420;32488085;32938616;33141586;33298915;33592498;33968037;34087483;34171305;34751841;35051231;35318648;35580925;35951458;36010968;36284347;36917700;37938771;38563084;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;9605766;9659915;9670022;9792683;9822598;9822605;9829970;9843499;9846874;9857026;9988689", "class_list": "", "function": "Aberrant DNA Methylation Patterns of Deleted in Liver Cancer 1 Isoforms in Hepatocellular Carcinoma., [RefSeq, PubMed]; DLC1 promotes mechanotransductive feedback for YAP via RhoGAP-mediated focal adhesion turnover., [RefSeq, PubMed]; Differences in promoter hypermethylation were seen in 12 hepatocellular carcinoma, breast, colon, and prostate tumor cell lines with aberrant DLC-1 expression. Hypermethylation abrogates the function of the DLC-1 gene in a subset of these cancers., [RefSeq, PubMed]; Functions as a GTPase-activating protein for the small GTPases RHOA, RHOB, RHOC and CDC42, terminating their downstream signaling. This induces morphological changes and detachment through cytoskeletal reorganization, playing a critical role in biological processes such as cell migration and proliferation. Also functions in vivo as an activator of the phospholipase PLCD1. Active DLC1 increases cell migration velocity but reduces directionality. Required for growth factor-induced epithelial cell migration; in resting cells, interacts with TNS3 while PTEN interacts with the p85 regulatory subunit of the PI3K kinase complex but growth factor stimulation induces phosphorylation of TNS3 and PTEN, causing them to change their binding preference so that PTEN interacts with DLC1 and TNS3 interacts with p85 (PubMed:26166433). The PTEN-DLC1 complex translocates to the posterior of migrating cells to activate RHOA while the TNS3-p85 complex translocates to the leading edge of migrating cells to promote RAC1 activation (PubMed:26166433)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Genomic deletion of DLC-1 was observed in 40% of breast tumors, whereas reduced levels of DLC-1 mRNA were seen in 70% of breast, 70% of colon, 50% of prostate tumor cell lines.DLC-1 gene plays a role in breast cancer by acting as a tumor suppressor gene, [RefSeq, PubMed]; MiR-200a-3p promotes gastric cancer progression by targeting DLC-1., [RefSeq, PubMed]; NBR2/miR-561-5p/DLC1 axis inhibited the development of multiple myeloma by activating the AMPK/mTOR pathway to repress glycolysis., [RefSeq, PubMed]; This gene encodes a GTPase-activating protein (GAP) that is a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins. GAP family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. This gene functions as a tumor suppressor gene in a number of common cancers, including prostate, lung, colorectal, and breast cancers. Multiple transcript variants due to alternative promoters and alternative splicing have been found for this gene.[provided by RefSeq, Apr 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 5, "reported_glycation": 0, "reported_snv": 76, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 16, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4DR10;B8PTI0;E9PDZ8;E9PF76;E9PGY9;O14868;O43199;Q7Z5R8;Q86UC6;Q9C0E0;Q9H7A2", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0008289 lipid binding;GO:0042169 SH2 domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion;GO:0045121 membrane raft", "go_biological_process": "GO:0008285 negative regulation of cell population proliferation;GO:0030900 forebrain development;GO:0035556 intracellular signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030336 negative regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 38.5, "record_id": "Q96QB1-2", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BR01-1", "uniprot_id": [ { "id": "ST4A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BR01", "type": "external" } ], "mass": 33085.0, "length": 284, "protein_name": "Sulfotransferase 4A1", "gene_name": "SULT4A1", "organism": "Human", "refseq_name": "sulfotransferase 4A1", "refseq_ac": [ { "id": "NP_055166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055166", "type": "external" } ], "gene_names_uniprotkb": "SULT4A1; SULTX3", "gene_names_refseq": "BR-STL-1; BRSTL1; DJ388M5.3; NST; SULT4A1; SULTX3; hBR-STL-1", "protein_names_uniprotkb": "Sulfotransferase 4A1; 2.8.2.-; Brain sulfotransferase-like protein; NST; Nervous system sulfotransferase; ST4A1; hBR-STL-1; hBR-STL", "protein_names_refseq": "ST4A1; brain sulfotransferase-like protein; hBR-STL; nervous system cytosolic sulfotransferase; nervous system sulfotransferase; sulfotransferase 4A1; sulfotransferase-related protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:25830); (R-HSA-156584)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10199779;10224133;10503886;10512730;10698717;11077054;11154739;11237011;11457664;11739018;12039030;12145317;12372849;12889478;14622112;14672934;15358107;17425406;18477386;18606703;18672380;19690332;20920535;2268288;23479625;23481380;29557506;30379171;31266751;32152050;32387766;34509645;35154160;35580925;36241641;37938771;6139755;6770210;7678732;7779757;8185618;8697101;9034160;9463486;9501187;9566739;9852044", "class_list": "", "function": "Atypical sulfotransferase family member with very low affinity for 3'-phospho-5'-adenylyl sulfate (PAPS) and very low catalytic activity towards L-triiodothyronine, thyroxine, estrone, p-nitrophenol, 2-naphthylamine, and 2-beta-naphthol. May have a role in the metabolism of drugs and neurotransmitters in the CNS., [UniProtKB, PubMed]; Interaction of the Brain-Selective Sulfotransferase SULT4A1 with Other Cytosolic Sulfotransferases: Effects on Protein Expression and Function., [RefSeq, PubMed]; Study in SULT4A1 knockout mice demonstrates that depletion of SULT4A1 induces oxidative stress in neurons and expression of SULT4A1 in human SH-SY5Y cells protects against oxidative-stress-induced mitochondrial dysfunction and cell death. Results suggest that SULT4A1 may have a crucial protective function against mitochondrial dysfunction and oxidative stress., [RefSeq, PubMed]; This gene encodes a member of the sulfotransferase family. The encoded protein is a brain-specific sulfotransferase believed to be involved in the metabolism of neurotransmitters. Polymorphisms in this gene may be associated with susceptibility to schizophrenia. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7N3;O43728", "ec_number_list": [ { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" }, { "id": "2.8.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.1", "type": "external" }, { "id": "2.8.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.4", "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": "2.8.2.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.n2", "type": "external" } ], "go_molecular_function": "GO:0008146 sulfotransferase activity;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005829 cytosol", "go_biological_process": "GO:0051923 sulfation;GO:0140059 dendrite arborization;GO:0008202 steroid metabolic process", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q9BR01-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H813-1", "uniprot_id": [ { "id": "PACC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H813", "type": "external" } ], "mass": 40043.0, "length": 350, "protein_name": "Proton-activated chloride channel", "gene_name": "PACC1", "organism": "Human", "refseq_name": "proton-activated chloride channel isoform 1", "refseq_ac": [ { "id": "NP_001185791", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185791", "type": "external" } ], "gene_names_uniprotkb": "PACC1; C1orf75; TMEM206", "gene_names_refseq": "ASOR; C1orf75; PACC1; PAC; PAORAC; TMEM206; hPAC; hTMEM206", "protein_names_uniprotkb": "Proton-activated chloride channel; ASOR; Acid-sensitive outwardly-rectifying anion channel; PAC; PAORAC; Proton-activated outwardly rectifying anion channel; Transmembrane protein 206; hPAC; hTMEM206", "protein_names_refseq": "acid-sensitive outwardly rectifying channel; acid-sensitive outwardly-rectifying anion channel; proton-activated chloride channel isoform 1; proton-activated chloride channel; proton-activated outwardly rectifying anion channel; transmembrane protein 206", "tax_id": 9606, "disease": "", "pathway": " (hsa:55248)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10.1101/2023.09.13.557529;16959974;18669648;19349973;19690332;24190977;25880248;28218747;28514659;28834231;29242379;29437277;30315122;31023925;31318332;31530632;31844290;32157095;32350084;32357974;32983136;33149300;33298915;33912179;33968037;33981976;34357683;36010968;37468723;38627262", "class_list": "", "function": "Chloride channel gated by pH that facilitates the entry of chloride ions into cells upon exposure to extracellular acidic pH (PubMed:31023925, PubMed:31318332). Involved in acidosis-induced cell death by mediating chloride influx and subsequent cell swelling (PubMed:31023925, PubMed:31318332)., [UniProtKB, 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]; PAC (TMEM206) was indentified as being essential for the widely observed proton-activated Cl- (PAC) currents (ICl,H). GeneRIF: PACC1 encodes a new type of chloride channel activated by acid or proton; its wide expression suggests a broad role for this conserved chloride channel in physiological and pathological processes associated with acidic pH., [RefSeq, PubMed]; Physiological Functions of the Volume-Regulated Anion Channel VRAC/LRRC8 and the Proton-Activated Chloride Channel ASOR/TMEM206., [RefSeq, PubMed]; Structures and pH-sensing mechanism of the proton-activated chloride channel., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 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": 4, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 9409, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B7Z4D6;Q6IA87;Q9NV85", "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:0061797 pH-gated chloride channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0034707 chloride channel complex", "go_biological_process": "GO:0006821 chloride transport", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9H813-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52747-1", "uniprot_id": [ { "id": "ZN143_HUMAN", "url": "https://www.uniprot.org/uniprot/P52747", "type": "external" } ], "mass": 68896.0, "length": 638, "protein_name": "Zinc finger protein 143", "gene_name": "ZNF143", "organism": "Human", "refseq_name": "zinc finger protein 143 isoform 2", "refseq_ac": [ { "id": "NP_001269585", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269585", "type": "external" } ], "gene_names_uniprotkb": "ZNF143; SBF; STAF", "gene_names_refseq": "SBF; STAF; ZNF143; pHZ-1", "protein_names_uniprotkb": "Zinc finger protein 143; SPH-binding factor; Selenocysteine tRNA gene transcription-activating factor; hStaf", "protein_names_refseq": "SPH-binding factor; hStaf; selenocysteine tRNA gene transcription-activating factor; transcriptional activator Staf; zinc finger protein 143 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:7702); (R-HSA-6807505); (R-HSA-749476); (R-HSA-76071)", "pathway_count": 4, "publication_count": 132, "publication_id_list": "10022900;10421633;10893243;11056176;11237011;11463379;11856838;12414730;12574128;14701755;14702349;1535687;16239144;16308568;16901896;17092945;1739980;17938208;18079403;1829677;19667075;20457598;21177654;2125285;22137580;22231121;22252320;22424782;22441827;22544926;23152058;23166507;23186163;23301498;23408857;23481700;23932780;24097444;24270878;24715725;24997600;25418920;25576301;25645053;25675981;26154972;26375851;26416877;26992070;27349184;27600516;27920218;28228285;28514659;28832583;28855257;28860189;28904123;29242379;29393594;2944599;29493099;29557506;29632046;29632711;29786170;29789417;30379171;30429286;30524438;30779550;30833945;31154438;31217245;31844290;31937595;31998317;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34932366;35051231;35561310;35580925;36010968;36241641;36284347;37158648;37423952;37938771;38206813;38395183;38642782;38665916;39708803;7557990;7715707;7891697;8253082;8339931;8628262;8668525;9003788;9009278;9153304;9188510;9234698;9407024;9418884;9705341;9776743;9832505", "class_list": "", "function": "ATF1 promotes the malignancy of lung adenocarcinoma cells by transcriptionally regulating ZNF143 expression., [RefSeq, PubMed]; CXXC5 drove inflammation and ovarian cancer proliferation via transcriptional activation of ZNF143 and EGR1., [RefSeq, PubMed]; LOC644656 promotes cisplatin resistance in cervical cancer by recruiting ZNF143 and activating the transcription of E6-AP., [RefSeq, PubMed]; Transcription factor that activates expression of genes transcribed by both RNA polymerases II and III, and which is required to safeguard mitochondrial activity (PubMed:10893243, PubMed:14702349, PubMed:17938208, PubMed:26416877, PubMed:39708803, PubMed:9705341, PubMed:9776743). Specifically recognizes and binds the Staf-binding site (SBS), a consensus DNA-binding motif present in thousands of promoters (PubMed:17092945, PubMed:21177654, PubMed:23408857, PubMed:9705341). Activates the gene for selenocysteine tRNA (tRNAsec) (PubMed:23152058). Activates expression of small nuclear RNA (snRNA) transcribed by RNA polymerases II and III (PubMed:17938208, PubMed:9776743). Also activates expression of mRNAs and acts as a key regulator of cell proliferation and differentiation by specifically activating expression of a subset of nuclear-encoded mitochondrial genes, thereby controlling mitochondrial function (By similarity). Involved in the maintenance of embryonic stem cells by promoting association of POU5F1/OCT4 to promoters, leading to NANOG expresion (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; ZNF143 facilitates the growth and migration of glioma cells by regulating KPNA2-mediated Hippo signalling. 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": 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": "A8K518;B4DLY5;E7ER34;O75559;Q8WUK9", "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:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific;GO:0001046 core promoter sequence-specific DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0006359 regulation of transcription by RNA polymerase III", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "P52747-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P27708-1", "uniprot_id": [ { "id": "PYR1_HUMAN", "url": "https://www.uniprot.org/uniprot/P27708", "type": "external" } ], "mass": 242984.0, "length": 2225, "protein_name": "Multifunctional protein CAD", "gene_name": "CAD", "organism": "Human", "refseq_name": "multifunctional protein CAD isoform 2", "refseq_ac": [ { "id": "NP_001293008", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001293008", "type": "external" } ], "gene_names_uniprotkb": "CAD", "gene_names_refseq": "CAD; CDG1Z; DEE50; EIEE50; GATD4", "protein_names_uniprotkb": "Multifunctional protein CAD; Carbamoyl phosphate synthetase 2-aspartate transcarbamylase-dihydroorotase", "protein_names_refseq": "CAD trifunctional protein; carbamoyl phosphate synthetase 2-aspartate transcarbamylase-dihydroorotase; multifunctional protein CAD isoform 2; multifunctional protein CAD", "tax_id": 9606, "disease": "orotic aciduria (Disease Ontology:DOID:0050833); developmental and epileptic encephalopathy 50 (Disease Ontology:DOID:0080419); rhabdomyosarcoma (Disease Ontology:DOID:3247); renal cell carcinoma (Disease Ontology:DOID:4450); hepatocellular carcinoma (Disease Ontology:DOID:684); carbamoyl phosphate synthetase I deficiency disease (Disease Ontology:DOID:9280)", "pathway": " (hsa:790); (R-HSA-500753)", "pathway_count": 2, "publication_count": 179, "publication_id_list": "10659854;10889450;11053058;11237011;11872754;11986331;12438317;13115431;15890648;16155188;16408927;165196;16959974;16964243;17081983;17206380;17322306;17485345;18184586;18669648;18691976;18707149;18767875;19608861;19651622;19664994;19664995;1979741;20068231;21157651;21406692;22223895;22424782;22544926;22645359;22706990;22898188;23186163;23301498;23429703;23429704;23481700;24275569;24332717;24366607;24714562;24715725;25418920;25576301;25645385;25678555;25810538;25892735;26154972;26375851;26657846;26768311;26811146;26992070;27090790;27265852;27600516;27846572;27862975;27893789;27920218;28063628;28087732;28218747;28228285;28352266;28467828;28514659;28649982;28832583;28834231;28904123;29242379;29314611;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29602958;29605689;29632046;29632711;29769354;29786170;2995985;30268498;30315107;30315122;30410026;30429286;30484775;30524438;30573663;30779550;31092671;31154438;31217245;31222486;31530632;31844290;31848261;31937595;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32494856;32502341;32696396;32720728;32735689;32754890;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34288185;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35083852;35132862;35138101;35154160;35251023;35318648;35561310;35580925;35705054;36010968;36215666;36241641;36284347;37540500;37938771;38665916;40307207;40596516;4092695;4684686;6105839;6893554;7766613;8573583;8619816;8631878;9042911;9693067", "class_list": "", "function": "Beyond genetics: Deciphering the impact of missense variants in CAD deficiency., [RefSeq, PubMed]; Deciphering CAD: Structure and function of a mega-enzymatic pyrimidine factory in health and disease. Review article, [RefSeq, PubMed]; Multifunctional protein that encodes the first 3 enzymatic activities of the de novo pyrimidine pathway: carbamoylphosphate synthetase (CPSase; EC 6.3.5.5), aspartate transcarbamylase (ATCase; EC 2.1.3.2) and dihydroorotase (DHOase; EC 3.5.2.3). The CPSase-function is accomplished in 2 steps, by a glutamine-dependent amidotransferase activity (GATase) that binds and cleaves glutamine to produce ammonia, followed by an ammonium-dependent carbamoyl phosphate synthetase, which reacts with the ammonia, hydrogencarbonate and ATP to form carbamoyl phosphate. The endogenously produced carbamoyl phosphate is sequestered and channeled to the ATCase active site. ATCase then catalyzes the formation of carbamoyl-L-aspartate from L-aspartate and carbamoyl phosphate. In the last step, DHOase catalyzes the cyclization of carbamoyl aspartate to dihydroorotate., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The de novo synthesis of pyrimidine nucleotides is required for mammalian cells to proliferate. This gene encodes a trifunctional protein which is associated with the enzymatic activities of the first 3 enzymes in the 6-step pathway of pyrimidine biosynthesis: carbamoylphosphate synthetase (CPS II), aspartate transcarbamoylase, and dihydroorotase. This protein is regulated by the mitogen-activated protein kinase (MAPK) cascade, which indicates a direct link between activation of the MAPK cascade and de novo biosynthesis of pyrimidine nucleotides. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]., [RefSeq]; Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 15, "reported_glycation": 0, "reported_snv": 43, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 6, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "D6W552;Q6P0Q0;Q96CK3", "ec_number_list": [ { "id": "3.5.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.2", "type": "external" }, { "id": "6.3.4.16", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.4.16", "type": "external" }, { "id": "2.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.3.2", "type": "external" }, { "id": "3.5.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.2.3", "type": "external" }, { "id": "6.3.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.3.5.5", "type": "external" } ], "go_molecular_function": "GO:0004087 carbamoyl-phosphate synthase (ammonia) activity;GO:0004088 carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity;GO:0004151 dihydroorotase activity;GO:0070335 aspartate binding;GO:0004672 protein kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0043025 neuronal cell body", "go_biological_process": "GO:0019240 citrulline biosynthetic process;GO:0001889 liver development;GO:0007507 heart development;GO:0042594 response to starvation;GO:0031000 response to caffeine", "synthesized_glycan_count": 0, "hit_score": 18.6, "record_id": "P27708-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49642-1", "uniprot_id": [ { "id": "PRI1_HUMAN", "url": "https://www.uniprot.org/uniprot/P49642", "type": "external" } ], "mass": 49902.0, "length": 420, "protein_name": "DNA primase small subunit", "gene_name": "PRIM1", "organism": "Human", "refseq_name": "DNA primase small subunit", "refseq_ac": [ { "id": "NP_000937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000937", "type": "external" } ], "gene_names_uniprotkb": "PRIM1", "gene_names_refseq": "PDIL; PRIM1; p49", "protein_names_uniprotkb": "DNA primase small subunit; 2.7.7.102; DNA primase 49 kDa subunit; p49", "protein_names_refseq": "DNA primase 1; DNA primase 49 kDa subunit; DNA primase small subunit; DNA primase subunit 48; primase (DNA) subunit 1; primase p49 subunit; primase polypeptide 1, 49kDa; primase, DNA, polypeptide 1 (49kDa)", "tax_id": 9606, "disease": "primordial dwarfism-immunodeficiency-lipodystrophy syndrome (MONDO:MONDO:0859276)", "pathway": " (hsa:5557); (R-HSA-113501); (R-HSA-174411); (R-HSA-174430); (R-HSA-68952); (R-HSA-68962); (R-HSA-69091); (R-HSA-69166); (R-HSA-69183); (R-HSA-9710421)", "pathway_count": 10, "publication_count": 134, "publication_id_list": "10329413;10373557;10518787;10523313;10656791;10656792;10751307;10757793;10846177;10882098;11003670;11095689;11125146;11237011;11473323;11724925;12045100;12766176;12930902;1328683;14527418;14766746;15066120;16314528;1671046;1682322;17699597;17893144;17991896;18223688;18346456;19661920;1974050;19854130;19896182;20068231;20639858;2165567;22223895;22871736;24038470;24043831;24115439;24239947;24366607;24397554;24714562;25231993;25418920;25550159;25576301;25880248;26154972;26811146;26975377;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28334750;28404884;28514659;28832583;28834231;28855257;28904123;29242379;29393594;29437277;29493099;29557506;29632046;29774655;30026550;30315122;30484775;30779550;30993897;31092671;31217245;31479243;31844290;32157095;32188940;32265295;32357974;32387766;32488085;32897882;32908930;32938616;33060134;33141586;33298915;33633747;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34376693;34932366;35051231;35561310;35580925;36010968;36284347;38773012;39894887;40914422;6094569;6693436;7378348;7711022;7713898;7876218;8026492;8104944;8131753;8144677;8954124;9081985;9191022;9268648;9660172;9660782;9705292;9822671", "class_list": "", "function": "Catalytic subunit of the DNA primase complex and component of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex - primosome/replisome) which play an essential role in the initiation of DNA synthesis (PubMed:17893144, PubMed:24043831, PubMed:25550159, PubMed:26975377, PubMed:31479243, PubMed:33060134, PubMed:9268648, PubMed:9705292). During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, an accessory subunit POLA2 and two primase subunits, the catalytic subunit PRIM1 and the regulatory subunit PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1 (By similarity). The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands (PubMed:17893144). These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively (By similarity). In the primase complex, both subunits are necessary for the initial di-nucleotide formation, but the extension of the primer depends only on the catalytic subunit (PubMed:17893144). Synthesizes 9-mer RNA primers (also known as the 'unit length' RNA primers). Incorporates only ribonucleotides in the presence of ribo- and deoxy-nucleotide triphosphates (rNTPs, dNTPs) (PubMed:26975377). Requires template thymine or cytidine to start the RNA primer synthesis, with an adenine or guanine at its 5'-end (PubMed:25550159, PubMed:26975377). Binds single stranded DNA (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB]; DNA Primase Subunit 1 Expression in Hepatocellular Carcinoma and Its Clinical Implication. Publication Status: Online-Only, [RefSeq, PubMed]; Small tandem DNA duplications result from CST-guided Pol alpha-primase action at DNA break termini. Publication Status: Online-Only, [RefSeq, PubMed]; The replication of DNA in eukaryotic cells is carried out by a complex chromosomal replication apparatus, in which DNA polymerase alpha and primase are two key enzymatic components. Primase, which is a heterodimer of a small subunit and a large subunit, synthesizes small RNA primers for the Okazaki fragments made during discontinuous DNA replication. The protein encoded by this gene is the small, 49 kDa primase subunit. [provided by RefSeq, Jul 2008]., [RefSeq]; Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations. 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": 18, "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": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "2.7.11.22", "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": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "2.7.7.-", "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": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0008270 zinc ion binding;GO:0003899 DNA-directed RNA polymerase activity;GO:0032553 ribonucleotide binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005658 alpha DNA polymerase:primase complex;GO:0005654 nucleoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006270 DNA replication initiation;GO:0006269 DNA replication, synthesis of primer", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "P49642-1", "record_type": "protein", "filter_code": "0000000.0100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PEW0-1", "uniprot_id": [ { "id": "PRS54_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PEW0", "type": "external" } ], "mass": 43832.0, "length": 395, "protein_name": "Inactive serine protease 54", "gene_name": "PRSS54", "organism": "Human", "refseq_name": "inactive serine protease 54 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001073961", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073961", "type": "external" } ], "gene_names_uniprotkb": "PRSS54; KLKBL4", "gene_names_refseq": "CT67; KLKBL4; PRSS54", "protein_names_uniprotkb": "Inactive serine protease 54; CT67; Cancer/testis antigen 67; Plasma kallikrein-like protein 4", "protein_names_refseq": "cancer/testis antigen 67; inactive serine protease 54 isoform 1 precursor; inactive serine protease 54; plasma kallikrein-like protein 4; protease, serine 54; testis tissue sperm-binding protein Li 40a", "tax_id": 9606, "disease": "", "pathway": " (hsa:221191)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;30779550;31844290;32938616;35863763;37074911;39894887", "class_list": "", "function": "Testis-specific serine protease PRSS54 regulates acrosomal granule localization and sperm head morphogenesis in micedagger., [RefSeq, PubMed]; This gene encodes a putative serine-type endopeptidase containing the peptidase S1 domain. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q96LN9;Q9NT77", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005576 extracellular region", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q6PEW0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z5J4-1", "uniprot_id": [ { "id": "RAI1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z5J4", "type": "external" } ], "mass": 203352.0, "length": 1906, "protein_name": "Retinoic acid-induced protein 1", "gene_name": "RAI1", "organism": "Human", "refseq_name": "retinoic acid-induced protein 1", "refseq_ac": [ { "id": "NP_109590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_109590", "type": "external" } ], "gene_names_uniprotkb": "RAI1; KIAA1820", "gene_names_refseq": "RAI1; SMCR; SMS", "protein_names_uniprotkb": "Retinoic acid-induced protein 1", "protein_names_refseq": "Smith-Magenis syndrome chromosome region; retinoic acid-induced protein 1", "tax_id": 9606, "disease": "Smith-Magenis syndrome (Disease Ontology:DOID:0060768); Potocki-Lupski syndrome (Disease Ontology:DOID:0060853)", "pathway": " (hsa:10743); (R-HSA-9707616); (R-HSA-9931509)", "pathway_count": 3, "publication_count": 118, "publication_id_list": "10198158;10381560;10915763;11237011;11387216;11404004;12130498;12356737;12377782;12511571;12652298;12837267;15175654;15665827;15761026;17081983;17924679;18006707;18037887;18220336;18452278;18669648;19413330;19690332;19691289;19710360;20068231;20581824;20817722;21479263;21628546;22028470;22578325;23186163;23301498;23481700;24196956;24715725;24863970;25114211;2539258;25418920;25505266;25576301;25645385;25892735;26375851;26811146;26992070;27600516;27754849;27846572;27920218;28111073;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29557506;29632046;30379171;30429286;30833945;31154438;31217245;31492838;31748741;31844290;31848261;31998317;32157095;32265295;32354867;32387766;32488085;32502341;32574038;32695117;32897882;32938616;32983136;33141586;33214551;33298915;3345742;33912179;34019948;34087483;34171305;34846842;34932366;35051231;35132862;35138101;35289036;35494241;35561310;35580925;36010968;36284347;37340703;37628566;37994247;38665916;38674394;39213791;39302247;39531497;39534244;40136647;8415693;8622974;8887638;9079689;9144434", "class_list": "", "function": "Allele-Specific Regulation of the Candidate Autism Liability Gene RAI1 by the Enhancer Variant rs4925102 (C/G). Publication Status: Online-Only, [RefSeq, PubMed]; Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Overlapping hearing and communication profiles for the deletion and the RAI1 variant form of Smith-Magenis Syndrome (SMS)., [RefSeq, PubMed]; Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8., [RefSeq, PubMed]; RAI1 may play a role in regulating behavior, as dominant frameshift mutations in RAI1 have been found in individuals with Smith-Magenis syndrome, [RefSeq, PubMed]; This gene is located within the Smith-Magenis syndrome region on chromosome 17. It is highly similar to its mouse counterpart and is expressed at high levels mainly in neuronal tissues. The protein encoded by this gene includes a polymorphic polyglutamine tract in the N-terminal domain. Expression of the mouse counterpart in neurons is induced by retinoic acid. This gene is associated with both the severity of the phenotype and the response to medication in schizophrenic patients. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcriptional regulator of the circadian clock components: CLOCK, BMAL1, BMAL2, PER1/3, CRY1/2, NR1D1/2 and RORA/C. Positively regulates the transcriptional activity of CLOCK a core component of the circadian clock. Regulates transcription through chromatin remodeling by interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be important for embryonic and postnatal development. May be involved in neuronal differentiation., [UniProtKB, 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": 17, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 17, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 17, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 37, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 70, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 21, "binding_glycan_count": 0, "secondary_ac_list": "Q8N3B4;Q8ND08;Q8WU64;Q96JK5;Q9H1C1;Q9H1C2;Q9UF69", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003712 transcription coregulator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0006357 regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0032922 circadian regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q7Z5J4-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14651-1", "uniprot_id": [ { "id": "PLSI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14651", "type": "external" } ], "mass": 70253.0, "length": 629, "protein_name": "Plastin-1", "gene_name": "PLS1", "organism": "Human", "refseq_name": "plastin-1", "refseq_ac": [ { "id": "NP_001138791", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138791", "type": "external" } ], "gene_names_uniprotkb": "PLS1", "gene_names_refseq": "DFNA76; PLS1", "protein_names_uniprotkb": "Plastin-1; I-plastin; Intestine-specific plastin", "protein_names_refseq": "I plastin; fimbrin; intestine specific plastin; plastin-1", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 76 (Disease Ontology:DOID:0112167); Huntington's disease (Disease Ontology:DOID:12858)", "pathway": " (hsa:5357); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 66, "publication_id_list": "10025409;10821263;11163272;11237011;16408927;22645359;23481700;25418920;25576301;26154972;26811146;26992070;28228285;28832583;28904123;29242379;29331515;29351928;29493099;29557506;29632046;29789417;30315122;30379171;30429286;30779550;30833945;30872814;31092671;31154438;31217245;31222486;31397523;31432506;31844290;31848261;32157095;32161166;32318696;32350953;32488085;32897882;32938616;32983136;33298915;33592498;33618712;33633747;33771880;33912179;33968037;33981976;34087483;34171305;34932366;35051231;35154160;35318648;35580925;36010968;36215666;36241641;36284347;37938771;40596516;8139549", "class_list": "", "function": "Actin-bundling protein. In the inner ear, it is required for stereocilia formation. Mediates liquid packing of actin filaments that is necessary for stereocilia to grow to their proper dimensions., [UniProtKB, UniProtKB]; L-Plastin Promotes Gastric Cancer Growth and Metastasis in a Helicobacter pylori cagA-ERK-SP1-Dependent Manner., [RefSeq, PubMed]; L-plastin Ser5 phosphorylation is modulated by the PI3K/SGK pathway and promotes breast cancer cell invasiveness. Publication Status: Online-Only, [RefSeq, PubMed]; Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss., [RefSeq, PubMed]; Plastin 1 drives metastasis of colorectal cancer through the IQGAP1/Rac1/ERK pathway., [RefSeq, PubMed]; Plastin 1 promotes osteoblast differentiation by regulating intracellular Ca2., [RefSeq, PubMed]; Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. The protein encoded by this gene is a third distinct plastin isoform, which is specifically expressed at high levels in the small intestine. Alternatively spliced transcript variants varying in the 5' UTR, but encoding the same protein, have been found for this gene. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Feb 2010]., [RefSeq]; Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase. Confers calcium sensitivity., [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": 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": 21, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8K2Q1;D3DNG3;Q8NEG6", "ec_number_list": [], "go_molecular_function": "GO:0005200 structural constituent of cytoskeleton;GO:0051015 actin filament binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005884 actin filament;GO:0005903 brush border;GO:0070062 extracellular exosome;GO:0032432 actin filament bundle", "go_biological_process": "GO:0001951 intestinal D-glucose absorption;GO:0051017 actin filament bundle assembly;GO:1903078 positive regulation of protein localization to plasma membrane;GO:0051639 actin filament network formation;GO:0040018 positive regulation of multicellular organism growth", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q14651-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q969Q5-1", "uniprot_id": [ { "id": "RAB24_HUMAN", "url": "https://www.uniprot.org/uniprot/Q969Q5", "type": "external" } ], "mass": 23124.0, "length": 203, "protein_name": "Ras-related protein Rab-24", "gene_name": "RAB24", "organism": "Human", "refseq_name": "ras-related protein Rab-24", "refseq_ac": [ { "id": "NP_001026847", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026847", "type": "external" } ], "gene_names_uniprotkb": "RAB24", "gene_names_refseq": "RAB24", "protein_names_uniprotkb": "Ras-related protein Rab-24; 3.6.5.2", "protein_names_refseq": "ras-related protein Rab-24", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861)", "pathway": " (hsa:53917); (R-HSA-6798695); (R-HSA-8873719)", "pathway_count": 3, "publication_count": 49, "publication_id_list": "10660536;11141079;11237011;11389151;11447212;11675392;14680817;16034420;16401880;1648736;17114793;17411337;18532927;19603039;22694141;23650620;24023390;25341920;26969162;28228285;29242379;29557506;30315122;31154438;31530632;31844290;31848261;32157095;32350084;32694843;32938616;32983136;33592498;33968037;34171305;34357683;34561969;35051231;35561310;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8692836;8836150", "class_list": "", "function": "Hepatic Rab24 controls blood glucose homeostasis via improving mitochondrial plasticity., [RefSeq, PubMed]; RAB24 is a small GTPase of the Rab subfamily of Ras-related proteins that regulate intracellular protein trafficking (Olkkonen et al., 1993 [PubMed 8126105]).[supplied by OMIM, Aug 2009]., [RefSeq]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB24 is an atypical RAB protein that presents low GTPase activity and thereby exists predominantly in the GTP-bound active state. RAB24 is required for the clearance of late autophagic vacuoles under basal conditions. It is not needed for starvation-induced autophagy. Involved in the modulation of meiotic apparatus assembly and meiotic progression during oocyte maturation, possibly through regulation of kinetochore-microtubule interaction., [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": 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": "A0A024R7N9;Q7Z4Z7", "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": "3.4.24.11", "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": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "2.5.1.60", "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": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "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:0000421 autophagosome membrane;GO:0005739 mitochondrion;GO:0005768 endosome;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0008608 attachment of spindle microtubules to kinetochore;GO:0006914 autophagy;GO:0001556 oocyte maturation;GO:0140013 meiotic nuclear division", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q969Q5-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NF64-1", "uniprot_id": [ { "id": "ZMIZ2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NF64", "type": "external" } ], "mass": 96537.0, "length": 920, "protein_name": "Zinc finger MIZ domain-containing protein 2", "gene_name": "ZMIZ2", "organism": "Human", "refseq_name": "zinc finger MIZ domain-containing protein 2 isoform 3", "refseq_ac": [ { "id": "NP_001287888", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287888", "type": "external" } ], "gene_names_uniprotkb": "ZMIZ2; HRIHFB2007; KIAA1886; ZIMP7", "gene_names_refseq": "NET27; TRAFIP20; ZIMP7; ZMIZ2; hZIMP7", "protein_names_uniprotkb": "Zinc finger MIZ domain-containing protein 2; PIAS-like protein Zimp7", "protein_names_refseq": "PIAS-like protein Zimp7; zinc finger MIZ domain-containing protein 2 isoform 3; zinc finger MIZ domain-containing protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:83637)", "pathway_count": 1, "publication_count": 79, "publication_id_list": "11230166;11237011;16051670;20159969;24129315;24714562;25576301;25772364;25880248;26154972;26992070;27397612;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30429286;30484775;30524438;30779550;31154438;31217245;31222486;31527801;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33298915;33392160;33537174;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34185709;34509645;34932366;35051231;35254053;35318648;35580925;36010968;36241641;36284347;37938771;38253038;38665916;39266996;40136647;9853615", "class_list": "", "function": "HZimp7 modulates androgen receptor and/or other nuclear receptor-mediated transcription, possibly through alteration of chromatin structure by SWI/SNF-like BAF complexes., [RefSeq, PubMed]; Identification of zinc finger MIZ-type containing 2 as an oncoprotein enhancing NAD-dependent protein deacetylase sirtuin-1 deacetylase activity to regulate Wnt and Hippo pathways in non-small-cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Increases ligand-dependent transcriptional activity of AR and other nuclear hormone receptors., [UniProtKB, PubMed]; LINC00265 promotes colorectal tumorigenesis via ZMIZ2 and USP7-mediated stabilization of beta-catenin., [RefSeq, PubMed]; There is an interaction between Zimp7 and PIAS proteins with higher preference for PIAS3, in androgen receptor-mediated transcription, [RefSeq, PubMed]; ZMIZ2 and ZMIZ1 (MIM 607159) are members of a PIAS (see MIM 603566)-like family of proteins that interact with nuclear hormone receptors. ZMIZ2 interacts with androgen receptor (AR; MIM 313700) and enhances AR-mediated transcription (Huang et al., 2005 [PubMed 16051670]).[supplied by OMIM, May 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": 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": 23, "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": "A4D2K7;D3DVL1;O94790;Q0VGB4;Q659A8;Q6JKL5;Q8WTX8;Q96Q01;Q9BQH7", "ec_number_list": [], "go_molecular_function": "GO:0061665 SUMO ligase activity;GO:0003713 transcription coactivator activity;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0043596 nuclear replication fork;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:0016925 protein sumoylation;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q8NF64-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z6P3-1", "uniprot_id": [ { "id": "RAB44_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z6P3", "type": "external" } ], "mass": 110850.0, "length": 1021, "protein_name": "Ras-related protein Rab-44", "gene_name": "RAB44", "organism": "Human", "refseq_name": "ras-related protein Rab-44", "refseq_ac": [ { "id": "NP_001244286", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244286", "type": "external" } ], "gene_names_uniprotkb": "RAB44", "gene_names_refseq": "RAB44; RASD3; RASL13; dJ431A14.3", "protein_names_uniprotkb": "Ras-related protein Rab-44; 3.6.5.2", "protein_names_refseq": "RAS-like, family 13; RASD family, member 3; ras-related protein Rab-44", "tax_id": 9606, "disease": "", "pathway": " (hsa:401258); (R-HSA-6798695); (R-HSA-8873719)", "pathway_count": 3, "publication_count": 33, "publication_id_list": "11141079;11389151;11447212;11675392;16401880;1648736;17114793;17411337;18532927;19603039;22694141;23650620;24023390;25341920;26969162;32897882;32983136;33123756;33641252;35051231;35580925;36284347;38253038;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8692836;8836150", "class_list": "", "function": "Rab44 isoforms similarly promote lysosomal exocytosis, but exhibit differential localization in mast cells., [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). Promotes mast cell degranulation upon IgE Fc receptor (FcERI)-mediated activation (PubMed:33641252)., [UniProtKB, UniProtKB, 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": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 14, "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": "A0A087WXI0", "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": "3.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.25", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "1.14.19.17", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.17", "type": "external" }, { "id": "5.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.-", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.20", "type": "external" }, { "id": "2.3.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.76", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.5.1.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.92", "type": "external" }, { "id": "3.4.21.73", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.73", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "3.2.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.20", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "3.1.3.48", "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": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.4.16.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.2", "type": "external" }, { "id": "1.2.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.5", "type": "external" }, { "id": "1.2.1.28", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.28", "type": "external" }, { "id": "1.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.7", "type": "external" }, { "id": "1.2.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.48", "type": "external" }, { "id": "3.4.23.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.-", "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": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.78", "type": "external" }, { "id": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.67", "type": "external" }, { "id": "2.3.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.25", "type": "external" }, { "id": "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:0005509 calcium ion binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0035579 specific granule membrane;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane;GO:0031901 early endosome membrane", "go_biological_process": "GO:0016192 vesicle-mediated transport;GO:0043303 mast cell degranulation", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q7Z6P3-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWY2-1", "uniprot_id": [ { "id": "PRS57_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWY2", "type": "external" } ], "mass": 30334.0, "length": 283, "protein_name": "Serine protease 57", "gene_name": "PRSS57", "organism": "Human", "refseq_name": "serine protease 57 isoform 1 precursor", "refseq_ac": [ { "id": "NP_999875", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_999875", "type": "external" } ], "gene_names_uniprotkb": "PRSS57; PRO1599; PRSSL1", "gene_names_refseq": "NSP4; PRSS57; PRSSL1; UNQ782", "protein_names_uniprotkb": "Serine protease 57; 3.4.21.-; NSP4; Neutrophil serine protease 4; Serine protease 1-like protein 1", "protein_names_refseq": "neutrophil serine protease 4; protease, serine 57; serine protease 1-like protein 1; serine protease 57 isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:400668)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;12975309;22474388;23904161;25156428;26992070;29557506;31611695;34087483;34357683;35051231;37402373;38253038", "class_list": "", "function": "Cathepsin C was identified as the activator of NSP4 in vivo, as cathepsin C deficiency resulted in a complete absence of NSP4 in a Papillon-Lefevre patient, [RefSeq, PubMed]; Serine protease that cleaves preferentially after Arg residues (PubMed:22474388, PubMed:23904161, PubMed:25156428). Can also cleave after citrulline (deimidated arginine) and methylarginine residues (PubMed:25156428)., [UniProtKB, PubMed, PubMed, PubMed]; Structural insights in to substrate recognition by the trypsin-fold protease NSP4., [RefSeq, PubMed]; The NSP4 T492I mutation increases SARS-CoV-2 infectivity by altering non-structural protein cleavage., [RefSeq, PubMed]; This gene encodes an arginine-specific serine protease and member of the peptidase S1 family of proteins. The encoded protein may undergo proteolytic activation before storage in azurophil granules, in neutrophil cells of the immune system. Following neutrophil activation, the protease is released into the pericellular environment, where it may play a role in defense against microbial pathogens. [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": 2, "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": 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": 3, "reported_glycation": 0, "reported_snv": 20, "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": "B2RNW8", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008201 heparin binding;GO:0008236 serine-type peptidase activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0035578 azurophil granule lumen", "go_biological_process": "GO:0006508 proteolysis;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q6UWY2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P50336-1", "uniprot_id": [ { "id": "PPOX_HUMAN", "url": "https://www.uniprot.org/uniprot/P50336", "type": "external" } ], "mass": 50765.0, "length": 477, "protein_name": "Protoporphyrinogen oxidase", "gene_name": "PPOX", "organism": "Human", "refseq_name": "protoporphyrinogen oxidase isoform 1", "refseq_ac": [ { "id": "NP_000300", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000300", "type": "external" } ], "gene_names_uniprotkb": "PPOX", "gene_names_refseq": "PPOX; PPO; V290M; VPCO; VP", "protein_names_uniprotkb": "Protoporphyrinogen oxidase; 1.3.3.4; PPO", "protein_names_refseq": "protoporphyrinogen oxidase isoform 1", "tax_id": 9606, "disease": "porphyria (Disease Ontology:DOID:13268); variegate porphyria (Disease Ontology:DOID:4346); variegate porphyria, childhood-onset (MONDO:MONDO:0957577)", "pathway": " (hsa:5498); (R-HSA-189451)", "pathway_count": 2, "publication_count": 74, "publication_id_list": "10486317;10706561;10870850;11032836;11032841;11074242;11102990;11175906;11237011;11286631;11348478;11350188;11474578;12380696;12474143;12655566;12773194;12859407;12922165;14535846;14669009;15235026;15863660;16121195;16176984;16258391;16433813;16621625;16922948;16947091;18191920;18350656;18570668;19320019;1939222;20705604;21048046;23430901;23467411;24073655;25892735;28514659;28832583;28904123;29242379;29769354;30315122;31844290;32157095;33159949;33857841;33968037;34171305;34968794;35051231;3805019;666752;6822570;7354069;7592565;7713909;8078902;8159699;8644733;8673113;8771201;8806618;8817334;8852667;9177788;9541112;9763307;9811936;9878253", "class_list": "", "function": "Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; GATA-1 binding sites in exon 1 constitute key regulatory elements in differential expression of PPOX in erythroid and non-erythroid cells., [RefSeq, PubMed]; Information required for targeting to the mitochondria is contained within the first 250 amino acid residues of human PPOX., [RefSeq, PubMed]; Molecular characterization of a novel His333Arg variant of human protoporphyrinogen oxidase IX., [RefSeq, PubMed]; The hydrogen bonding network involved Arg59 in human protoporphyrinogen IX oxidase is essential for enzyme activity., [RefSeq, PubMed]; This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 12, "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": "D3DVG0;Q5VTW8", "ec_number_list": [ { "id": "1.3.3.4", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.3.4", "type": "external" } ], "go_molecular_function": "GO:0004729 oxygen-dependent protoporphyrinogen oxidase activity;GO:0050660 flavin adenine dinucleotide binding;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0006779 porphyrin-containing compound biosynthetic process;GO:0009410 response to xenobiotic stimulus;GO:0006783 heme biosynthetic process;GO:0006782 protoporphyrinogen IX biosynthetic process;GO:0006784 heme A biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "P50336-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94761-1", "uniprot_id": [ { "id": "RECQ4_HUMAN", "url": "https://www.uniprot.org/uniprot/O94761", "type": "external" } ], "mass": 133067.0, "length": 1208, "protein_name": "ATP-dependent DNA helicase Q4", "gene_name": "RECQL4", "organism": "Human", "refseq_name": "ATP-dependent DNA helicase Q4 isoform 1", "refseq_ac": [ { "id": "NP_004251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004251", "type": "external" } ], "gene_names_uniprotkb": "RECQL4; RECQ4", "gene_names_refseq": "RECQ4; RECQL4", "protein_names_uniprotkb": "ATP-dependent DNA helicase Q4; 5.6.2.4; DNA 3'-5' helicase RecQ4; DNA helicase, RecQ-like type 4; RTS; RecQ protein-like 4; RecQ4", "protein_names_refseq": "ATP-dependent DNA helicase Q4 isoform 1; ATP-dependent DNA helicase Q4; DNA 3'-5' helicase RecQ4; DNA helicase, RecQ-like, type 4; RecQ helicase-like 4; RecQ protein-like 4", "tax_id": 9606, "disease": "Baller-Gerold syndrome (Disease Ontology:DOID:0050654); rapadilino syndrome (Disease Ontology:DOID:0050774); Rothmund-Thomson syndrome (Disease Ontology:DOID:2732)", "pathway": " (hsa:9401)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "10319867;10552928;10678659;11032027;11237011;12601557;12734318;12952869;15221963;15317757;15964893;19696745;20503338;22730300;23186163;24715725;25576301;26992070;27600516;28514659;28653661;28832583;28834231;28904123;29229926;29242379;29557506;30379171;30484775;30779550;30833945;31844290;31848261;32157095;32161166;32357974;32488085;32938616;33298915;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34932366;35051231;35580925;36241641;36581221;37516854;37875529;38253038;38565932;38874681;9878247", "class_list": "", "function": "An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction (PubMed:28653661). Does not unwind more than 18 bp of dsDNA (PubMed:28653661). May modulate chromosome segregation. The N-terminal domain (residues 1-54) binds DNA Y-shaped DNA better than ss- or dsDNA (PubMed:22730300). The core helicase domain binds ssDNA (PubMed:22730300, PubMed:28653661)., [UniProtKB, PubMed, PubMed, PubMed]; RECQL4 is not critical for firing of human DNA replication origins. Publication Status: Online-Only, [RefSeq, PubMed]; RecQ helicase expression in patients with telomeropathies. Publication Status: Online-Only, [RefSeq, PubMed]; Recognition and coacervation of G-quadruplexes by a multifunctional disordered region in RECQ4 helicase. Publication Status: Online-Only, [RefSeq, PubMed]; TRIM58 functions as a tumor suppressor in colorectal cancer by promoting RECQL4 ubiquitination to inhibit the AKT signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [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": 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": 5, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 63, "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": "A0A087WZ30;Q3Y424;Q96DW2;Q96F55", "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:0032357 oxidized purine DNA binding;GO:0005524 ATP binding;GO:0046872 metal ion binding;GO:0016887 ATP hydrolysis activity;GO:0004386 helicase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane;GO:0005694 chromosome", "go_biological_process": "GO:0006281 DNA repair;GO:0000723 telomere maintenance;GO:0006260 DNA replication;GO:0000724 double-strand break repair via homologous recombination;GO:0061820 telomeric D-loop disassembly", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "O94761-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14442-1", "uniprot_id": [ { "id": "PIGH_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14442", "type": "external" } ], "mass": 21081.0, "length": 188, "protein_name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit H", "gene_name": "PIGH", "organism": "Human", "refseq_name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit H isoform 1", "refseq_ac": [ { "id": "NP_004560", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004560", "type": "external" } ], "gene_names_uniprotkb": "PIGH", "gene_names_refseq": "GPI-H; PIGH", "protein_names_uniprotkb": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit H; PIG-H; Phosphatidylinositol-glycan biosynthesis class H protein", "protein_names_refseq": "phosphatidylinositol N-acetylglucosaminyltransferase subunit H isoform 1; phosphatidylinositol N-acetylglucosaminyltransferase subunit H; phosphatidylinositol-glycan biosynthesis, class H protein", "tax_id": 9606, "disease": "glycosylphosphatidylinositol biosynthesis defect 17 (MONDO:MONDO:0060724)", "pathway": " (hsa:5283); (R-HSA-162710)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10069808;10089216;10944123;11226175;11237011;14517336;14742432;15623507;15632136;15635094;15720390;16162815;18691976;23481700;25645385;28228285;28904123;29557506;29573052;29603516;30370942;31217245;31530632;31844290;31937595;32157095;32357974;32488085;32502341;32983136;33141586;33156547;33592498;33968037;34171305;34211107;34294787;34357683;35051231;35445667;36010968;36241641;8407896;8861954;8900170;9463366", "class_list": "glycogene;glycosyltransferase", "function": "An epigenetic GPI anchor defect impairs TLR4 signaling in the B cell transdifferentiation model for primary human monocytes BLaER1. Erratum:[Sci Rep. 2021 Aug 30;11(1):17661. doi: 10.1038/s41598-021-97277-5. PMID: 34462520] Publication Status: Online-Only, [RefSeq, PubMed]; PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations., [RefSeq, PubMed]; Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis., [UniProtKB, PubMed, PubMed]; The GPI-anchor negative phenotype results from loss of mRNA expression of the PIGH gene, which is involved in the first step of GPI-anchor synthesis. Loss of PIGH mRNA expression within these B-ALL cells follows epigenetic silencing rather than gene mutation or deletion., [RefSeq, PubMed]; This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum. [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": 219, "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": "B2RAA4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006506 GPI anchor biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q14442-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P57729-1", "uniprot_id": [ { "id": "RAB38_HUMAN", "url": "https://www.uniprot.org/uniprot/P57729", "type": "external" } ], "mass": 23712.0, "length": 211, "protein_name": "Ras-related protein Rab-38", "gene_name": "RAB38", "organism": "Human", "refseq_name": "ras-related protein Rab-38", "refseq_ac": [ { "id": "NP_071732", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_071732", "type": "external" } ], "gene_names_uniprotkb": "RAB38", "gene_names_refseq": "NY-MEL-1; RAB38; rrGTPbp", "protein_names_uniprotkb": "Ras-related protein Rab-38; 3.6.5.2; Melanoma antigen NY-MEL-1", "protein_names_refseq": "Rab-related GTP-binding protein; melanoma antigen NY-MEL-1; ras-related protein Rab-38", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); Hermansky-Pudlak syndrome (Disease Ontology:DOID:3753); proteinuria (Disease Ontology:DOID:576)", "pathway": " (hsa:23682); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 3, "publication_count": 233, "publication_id_list": "10818110;10910072;10990452;11038176;11141079;11179213;11237011;11389151;11447212;11516400;11675392;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12643545;12684051;12850305;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16373702;16401880;16410077;1648736;16525024;16525121;16571673;16641372;16754960;16880209;16950109;16959974;17043139;17081065;17114793;17132146;17189207;17208202;17239822;17287728;17411337;17488286;17562788;17574030;17646400;17671165;17678623;18076383;18094055;18354496;18367545;1845915;18477474;18532927;18559336;18585354;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19603039;19620288;19656848;19725050;19729655;19745841;20008558;20154091;20159109;20159556;20305638;20308558;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21255211;21273506;21330364;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22694141;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23645161;23678941;23684622;23713133;23839779;24023390;24296415;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25645385;25648148;25713415;25925668;26055712;26177209;26245486;26434594;26538022;26925400;26936971;26969162;27041585;27044746;27103185;27246931;27329675;27846572;28228285;28832583;28904123;29786170;31844290;31848261;32157095;32350084;32488085;32582212;32938616;33968037;34171305;34209035;35051231;35251023;35580925;35874702;36241641;36413603;37625589;7688123;7911226;7957092;7991565;8144603;8164745;8349690;8375503;8408203;8513495;8522602;8631982;8662963;8836150;8863739;9020086;9020161;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "BLOC-3 is a Rab32 and Rab38 guanine nucleotide exchange factor, with a specific function in the biogenesis of lysosome-related organelles., [RefSeq, PubMed]; Endogenous Rab38 regulates LRRK2's membrane recruitment and substrate Rab phosphorylation in melanocytes., [RefSeq, PubMed]; Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia using human induced pluripotent stem cell-derived RPE., [RefSeq, PubMed]; Not a new major locus for Japanese oculocutaneous albinisms., [RefSeq, PubMed]; RAB38 Facilitates Energy Metabolism and Counteracts Cell Death in Glioblastoma Cells. Publication Status: Online-Only, [RefSeq, PubMed]; That Rab38 and Rab32 are the specific factors that direct the ubiquitous machinery to mediate transport from early endosomes to maturing LROs., [RefSeq, PubMed]; The small GTPases Rab are key regulators in vesicle trafficking., [UniProtKB, UniProtKB]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). RAB38 may be involved in melanosomal transport and docking. Involved in the proper sorting of TYRP1. Involved in peripheral melanosomal distribution of TYRP1 in melanocytes; the function, which probably is implicating vesicle-trafficking, includes cooperation with ANKRD27 and VAMP7 (By similarity). Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and M.tuberculosis (PubMed:21255211). Plays an important role in the control of melanin production and melanosome biogenesis (PubMed:23084991). In concert with RAB32, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, UniProtKB]; 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q53XK7", "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:0035651 AP-3 adaptor complex binding;GO:0036461 BLOC-2 complex binding;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:1903232 melanosome assembly;GO:0090383 phagosome acidification;GO:0006886 intracellular protein transport;GO:0015031 protein transport;GO:2001247 positive regulation of phosphatidylcholine biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 23.4, "record_id": "P57729-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A8MTL3-1", "uniprot_id": [ { "id": "R212B_HUMAN", "url": "https://www.uniprot.org/uniprot/A8MTL3", "type": "external" } ], "mass": 33570.0, "length": 300, "protein_name": "E3 ubiquitin-protein ligase RNF212B", "gene_name": "RNF212B", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF212B", "refseq_ac": [ { "id": "NP_001269251", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269251", "type": "external" } ], "gene_names_uniprotkb": "RNF212B; C14orf164", "gene_names_refseq": "C14orf164; RNF212B", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF212B; 2.3.2.27; RING finger protein 212B", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF212B; RING finger protein C14orf164-like", "tax_id": 9606, "disease": "spermatogenic failure (Disease Ontology:DOID:0111910)", "pathway": " (hsa:100507650)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;29557506;30379171;37124137", "class_list": "", "function": "A pathogenic variant in the uncharacterized RNF212B gene results in severe aneuploidy male infertility and repeated IVF failure. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin E3 ligase that acts as a crucial factor for crossing-over (CO) formation during meiosis. Essential for normal prophase I progression and for ensuring appropriate CO designation in meiosis. Recruits key components of the cross-over machinery either directly ou indirectly, leading to the activation of the MutL-gamma complex. The function of RNF212B in CO designation is dependent on its catalytic 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0019789 SUMO transferase activity", "go_cellular_component": "GO:0000795 synaptonemal complex", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0007129 homologous chromosome pairing at meiosis;GO:0051026 chiasma assembly;GO:0007131 reciprocal meiotic recombination", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A8MTL3-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUD9-1", "uniprot_id": [ { "id": "PIGV_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUD9", "type": "external" } ], "mass": 55713.0, "length": 493, "protein_name": "GPI alpha-1,6-mannosyltransferase 2", "gene_name": "PIGV", "organism": "Human", "refseq_name": "GPI alpha-1,6-mannosyltransferase 2 isoform a", "refseq_ac": [ { "id": "NP_001189483", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001189483", "type": "external" } ], "gene_names_uniprotkb": "PIGV", "gene_names_refseq": "GPI-MT-II; HPMRS1; PIG-V; PIGV", "protein_names_uniprotkb": "GPI alpha-1,6-mannosyltransferase 2; 2.4.1.-; GPI mannosyltransferase II; GPI-MT-II; PIG-V; Phosphatidylinositol-glycan biosynthesis class V protein", "protein_names_refseq": "GPI alpha-1,6-mannosyltransferase 2 isoform a; GPI alpha-1,6-mannosyltransferase 2; GPI mannosyltransferase 2; GPI mannosyltransferase II; Ybr004c homolog; dol-P-Man dependent GPI mannosyltransferase II; dol-P-Man dependent GPI mannosyltransferase", "tax_id": 9606, "disease": "hyperphosphatasia with impaired intellectual development syndrome (Disease Ontology:DOID:0070431); hyperphosphatasia with impaired intellectual development syndrome 1 (Disease Ontology:DOID:0070433)", "pathway": " (hsa:55650); (R-HSA-162710)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10069808;10089216;10944123;11226175;11237011;14517336;14742432;15623507;15632136;15635094;15720390;16162815;1724113;17351347;20578257;20802478;21739589;22228761;22315194;23694781;24129430;25418920;25645385;25892735;26154972;28218747;28228285;28904123;29242379;29437277;29557506;29769354;30315122;31154438;31217245;31530632;31844290;32157095;32161166;32357974;32387766;32488085;32502341;32938616;33298915;33537174;33717175;33912179;33968037;34171305;34185709;34357683;34509645;35051231;35580925;36010968;36581221;5465362;8861954;8900170;9463366", "class_list": "glycogene;glycosyltransferase", "function": "Alpha-1,6-mannosyltransferase that catalyzes the transfer of the second mannose, via an alpha-1,6 bond, from a dolichol-phosphate-mannose (Dol-P-Man) to a 2-acyl-6-(alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl)-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H2) intermediate to generate a 2-acyl-6-[alpha-D-mannosyl-(1->6)-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H3) and participates in the seventh step of the glycosylphosphatidylinositol-anchor biosynthesis (Probable) (PubMed:15623507). May also transfer the second mannose on a 2-acyl-6-[2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H5), but less effectively (Probable)., [UniProtKB, PubMed, PubMed]; Data indicate that mannosyltransferases PIGV mutations are the major cause of hyperphosphatasia-mental retardation syndrome (HPMRS) which displays a broad clinical variability regarding associated malformations and growth patterns., [RefSeq, PubMed]; Hyperphosphatasia resulted from secretion of ALP, a GPI-anchored protein normally expressed on the cell surface, into serum due to PIGV deficiency., [RefSeq, PubMed]; Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Novel compound heterozygous mutations in the PIGV gene c.467G>A and c.1022C>A and a homozygous mutation c.1022C>A in hyperphosphatasia-mental retardation syndrome, [RefSeq, PubMed]; PIG-V is the second mannosyltransferase in GPI anchor biosynthesis., [RefSeq, PubMed]; PIGV is the rate-limiting enzyme in GPI biosynthesis under limited dolicholphosphate mannose availability., [RefSeq, PubMed]; PIGV mutations are associated with hyperphosphatasia mental retardation syndrome., [RefSeq, PubMed]; This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 612, "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": "D3DPL2;Q5JYG7;Q5JYG8;Q5JYG9;Q9NX26", "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:0000030 mannosyltransferase activity;GO:0000009 alpha-1,6-mannosyltransferase activity;GO:0004376 GPI mannosyltransferase activity;GO:0120563 dol-P-Man:Man(1)GlcN-acyl-PI alpha-1,6-mannosyltransferase activity", "go_cellular_component": "GO:0031501 mannosyltransferase complex;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0006506 GPI anchor biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9NUD9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35249-1", "uniprot_id": [ { "id": "RFC4_HUMAN", "url": "https://www.uniprot.org/uniprot/P35249", "type": "external" } ], "mass": 39682.0, "length": 363, "protein_name": "Replication factor C subunit 4", "gene_name": "RFC4", "organism": "Human", "refseq_name": "replication factor C subunit 4", "refseq_ac": [ { "id": "NP_002907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002907", "type": "external" } ], "gene_names_uniprotkb": "RFC4", "gene_names_refseq": "A1; MRMNS; RFC37; RFC4", "protein_names_uniprotkb": "Replication factor C subunit 4; A1 37 kDa subunit; Activator 1 37 kDa subunit; Activator 1 subunit 4; RF-C 37 kDa subunit; RFC37; Replication factor C 37 kDa subunit", "protein_names_refseq": "A1 37 kDa subunit; RF-C 37 kDa subunit; RFC 37 kDa subunit; activator 1 37 kDa subunit; activator 1 subunit 4; replication factor C (activator 1) 4, 37kDa; replication factor C 37 kDa subunit; replication factor C subunit 4", "tax_id": 9606, "disease": "Morimoto-Ryu-Malicdan neuromuscular syndrome (MONDO:MONDO:0975848)", "pathway": " (hsa:5984); (R-HSA-110312); (R-HSA-110314); (R-HSA-110320); (R-HSA-174411); (R-HSA-176187); (R-HSA-5651801); (R-HSA-5655862); (R-HSA-5656121); (R-HSA-5656169); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6804756); (R-HSA-69091); (R-HSA-69473); (R-HSA-9709570)", "pathway_count": 23, "publication_count": 373, "publication_id_list": "10051570;10212258;10329413;10373362;10373512;10435622;10438626;10460157;10500146;10536157;10551859;10559261;10570149;10570174;10604467;10656791;10656792;10660610;10673500;10673501;10710310;10733923;10744741;10744977;10751307;10760286;10777662;10801132;10827953;10856253;10859164;10884347;10887153;10921897;10959839;10984059;11006276;11058110;11080452;11139606;11237011;11239457;11250913;11301010;11376695;11390642;11447225;11485998;11511362;11546806;11551930;11571269;11572977;11601988;11687589;11698410;11740489;11751635;11780126;11784855;11832208;11917024;12064478;12139939;12145297;12152085;12191481;12200445;12226092;12226657;12228710;12370410;12379650;12393879;12399544;12444249;12545175;12578958;12584190;12676583;12676925;12702766;12750383;12759351;12766176;12791985;12851404;12914926;12930902;12952891;12963847;1351677;14500360;14517266;14576433;14603323;14605214;14624239;14657033;14702041;14734547;15053879;15066120;15149598;15189136;15189446;15190204;15199127;15226314;15254543;15359272;15475561;15485900;15590680;15657443;15665856;15703751;15707391;15743907;15833913;15866171;15916957;16139798;16148040;16153896;16246722;16322561;16327781;16337601;16344468;16357261;16360315;16407120;16464020;16530042;16531995;16611994;1671046;16819516;1682322;16885023;16959974;17000769;17043239;17108107;17349958;17466625;17466626;17515903;17517887;17575048;17591690;17720710;17928296;17948053;17962301;17965729;18079701;18171670;18242152;18317453;18342608;18480045;18490454;18539610;18541667;18757400;18805091;18923075;18971343;18991276;19074197;19121998;19153606;19170759;19223468;19279666;19357644;19419957;19492058;19608861;1974050;19940136;19941829;19965871;20008555;20068231;20129063;20154705;20159558;20159559;20164194;20227374;20233725;20660785;20729832;20729858;20729859;20952260;20959462;20965415;21052091;21143968;21240188;21263215;21282463;21317932;21325134;21335604;21565612;21628590;2165567;21659603;21680713;21777809;21791603;21804533;22021381;22024395;22081108;22194698;22231403;22635276;22661229;22661230;22681887;22700975;22721435;22772988;22792074;22859295;22859296;22902628;22952233;22977173;23000554;23000965;23042605;23042607;23143872;23149936;23301498;23345434;23468639;23481700;23485397;23593430;23676219;23686288;23731732;23783831;23810717;24013206;24038470;24115439;24145406;24366607;24402227;24449906;24485656;24648516;24714562;24715725;24768535;24874608;25113031;25122754;25418920;25558984;25576301;25645385;25659039;25880248;26145171;26154972;26375851;26728094;26992070;27600516;27846572;27920218;28218747;28228285;28446606;28510447;28514659;28649982;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29508533;29557506;30315122;30379171;30429286;30524438;30779550;31154438;31530632;31844290;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33592498;33691108;33912179;33936100;33968037;33978741;33981976;34019948;34087483;34171305;34185709;34211107;34440403;34509645;34725712;34932366;35051231;35561310;35580925;36172813;36215666;36241641;36284347;36352434;36562948;39106866;3941892;40596516;40914422;7378348;7700386;7713898;8078911;8104944;8196638;8658138;8702565;8751446;8943031;8954124;8999859;9191022;9214649;9278511;9278512;9488738;9649448;9660172;9699634;9705271;9716411;9780000;9822671;9837724;9875289;9925639", "class_list": "", "function": "Knockdown of RFC4 inhibits the cell proliferation of nasopharyngeal carcinoma in vitro and in vivo., [RefSeq, PubMed]; Sequential gene expression analysis of cervical malignant transformation identifies RFC4 as a novel diagnostic and prognostic biomarker. Publication Status: Online-Only, [RefSeq, PubMed]; Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA. The RFC4 subunit probably functions as a scaffold on which the other complex components can assemble., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed]; The elongation of primed DNA templates by DNA polymerase delta and DNA polymerase epsilon requires the accessory proteins proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). RFC, also named activator 1, is a protein complex consisting of five distinct subunits of 140, 40, 38, 37, and 36 kD. This gene encodes the 37 kD subunit. This subunit forms a core complex with the 36 and 40 kDa subunits. The core complex possesses DNA-dependent ATPase activity, which was found to be stimulated by PCNA in an in vitro system. Alternatively spliced transcript variants encoding the same protein 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": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B4DM41;D3DNV2;Q6FHX7", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0016887 ATP hydrolysis activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0031390 Ctf18 RFC-like complex;GO:0031391 Elg1 RFC-like complex;GO:0005663 DNA replication factor C complex", "go_biological_process": "GO:0000076 DNA replication checkpoint signaling;GO:0006271 DNA strand elongation involved in DNA replication;GO:0006281 DNA repair;GO:0006260 DNA replication;GO:1900264 positive regulation of DNA-directed DNA polymerase activity", "synthesized_glycan_count": 0, "hit_score": 37.6, "record_id": "P35249-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99969-1", "uniprot_id": [ { "id": "RARR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99969", "type": "external" } ], "mass": 18618.0, "length": 163, "protein_name": "Retinoic acid receptor responder protein 2", "gene_name": "RARRES2", "organism": "Human", "refseq_name": "retinoic acid receptor responder protein 2 precursor", "refseq_ac": [ { "id": "NP_002880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002880", "type": "external" } ], "gene_names_uniprotkb": "RARRES2; TIG2", "gene_names_refseq": "HP10433; RARRES2; TIG2", "protein_names_uniprotkb": "Retinoic acid receptor responder protein 2; Chemerin; RAR-responsive protein TIG2; Tazarotene-induced gene 2 protein", "protein_names_refseq": "RAR-responsive protein TIG2; chemerin; retinoic acid receptor responder (tazarotene induced) 2; retinoic acid receptor responder protein 2 precursor; retinoic acid receptor responder protein 2; tazarotene-induced gene 2 protein", "tax_id": 9606, "disease": "metabolic dysfunction-associated steatotic liver disease (Disease Ontology:DOID:0080208); essential hypertension (Disease Ontology:DOID:10825); polycystic ovary syndrome (Disease Ontology:DOID:11612); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:5919); (R-HSA-114608)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10.1038/emboj.2013.79;10072769;11237011;1435334;14630798;14675762;15297306;16096270;17635925;17767914;18242188;20011981;20237162;20817486;22119008;22610747;22634313;23216632;23527010;23584533;23640497;24660117;27716822;29557506;29632711;30429286;32157095;32938616;32983136;33091337;35051231;35154160;38520551;38579052;38939937;39466725;6457647;8467233;9204961", "class_list": "", "function": "Adipocyte-secreted protein (adipokine) that regulates adipogenesis, metabolism and inflammation through activation of the chemokine-like receptor 1 (CMKLR1). Also acts as a ligand for CMKLR2. Can also bind to C-C chemokine receptor-like 2 (CCRL2), but with a lower affinity than it does to CMKLR1 or CMKLR2 (PubMed:27716822). Positively regulates adipocyte differentiation, modulates the expression of adipocyte genes involved in lipid and glucose metabolism and might play a role in angiogenesis, a process essential for the expansion of white adipose tissue. Also acts as a pro-inflammatory adipokine, causing an increase in secretion of pro-inflammatory and prodiabetic adipokines, which further impair adipose tissue metabolic function and have negative systemic effects including impaired insulin sensitivity, altered glucose and lipid metabolism, and a decrease in vascular function in other tissues. Can have both pro- and anti-inflammatory properties depending on the modality of enzymatic cleavage by different classes of proteases. Acts as a chemotactic factor for leukocyte populations expressing CMKLR1, particularly immature plasmacytoid dendritic cells, but also immature myeloid DCs, macrophages and natural killer cells. Exerts an anti-inflammatory role by preventing TNF/TNFA-induced VCAM1 expression and monocytes adhesion in vascular endothelial cells. The effect is mediated via inhibiting activation of NF-kappa-B and CRK/p38 through stimulation of AKT1/NOS3 signaling and nitric oxide production. Its dual role in inflammation and metabolism might provide a link between chronic inflammation and obesity, as well as obesity-related disorders such as type 2 diabetes and cardiovascular disease. Exhibits an antimicrobial function in the skin., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Chemerin functions in host defense as a broad spectrum antimicrobial protein against bacteria and fungi and as a leukocyte attractant for macrophages. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Chemerin promotes invasion of oral squamous cell carcinoma by stimulating IL-6 and TNF-alpha production via STAT3 activation. Publication Status: Online-Only, [RefSeq, PubMed]; Prognostic significance of the chemerin level in coronavirus disease 2019 patients., [RefSeq, PubMed]; Structure of G protein-coupled receptor GPR1 bound to full-length chemerin adipokine reveals a chemokine-like reverse binding mode. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted chemotactic protein that initiates chemotaxis via the ChemR23 G protein-coupled seven-transmembrane domain ligand. Expression of this gene is upregulated by the synthetic retinoid tazarotene and occurs in a wide variety of tissues. The active protein has several roles, including that as an adipokine and as an antimicrobial protein with activity against bacteria and fungi. [provided by RefSeq, Nov 2014]., [RefSeq]; [Research progress of chemerin in polycystic ovary syndrome]. Review article, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 5, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q7LE02", "ec_number_list": [], "go_molecular_function": "GO:0005102 signaling receptor binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0031012 extracellular matrix;GO:0031089 platelet dense granule lumen", "go_biological_process": "GO:0001523 retinoid metabolic process;GO:0001934 positive regulation of protein phosphorylation;GO:0006935 chemotaxis;GO:0006954 inflammatory response;GO:0019732 antifungal humoral response", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q99969-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFJ5-1", "uniprot_id": [ { "id": "RAI3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFJ5", "type": "external" } ], "mass": 40251.0, "length": 357, "protein_name": "Retinoic acid-induced protein 3", "gene_name": "GPRC5A", "organism": "Human", "refseq_name": "retinoic acid-induced protein 3", "refseq_ac": [ { "id": "NP_003970", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003970", "type": "external" } ], "gene_names_uniprotkb": "GPRC5A; GPCR5A; RAI3; RAIG1", "gene_names_refseq": "GPCR5A; GPRC5A; PEIG-1; RAI3; RAIG1; TIG1", "protein_names_uniprotkb": "Retinoic acid-induced protein 3; G protein-coupled receptor family C group 5 member A; PEIG-1; Phorbol ester induced gene 1; RAIG-1; Retinoic acid-induced gene 1 protein", "protein_names_refseq": "G-protein coupled receptor family C group 5 member A; TPA induced gene 1; orphan G-protein-coupling receptor PEIG-1; phorbol ester induced gene 1; phorbol ester induced protein-1; retinoic acid induced 3; retinoic acid responsive; retinoic acid-induced gene 1 protein; retinoic acid-induced protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:9052)", "pathway_count": 1, "publication_count": 47, "publication_id_list": "10783259;10945465;11237011;15951569;16565220;17016520;17389395;17924679;18000218;18077418;18083107;18452278;18491316;18669648;18691976;20068231;23186163;25311788;25576301;29393594;29557506;29789417;30779550;30833945;31154438;31844290;32157095;32161166;32488085;32938616;33091337;33592498;33968037;33981976;34087483;34171305;34185709;35580925;36215666;36241641;36284347;38448858;38548591;38602327;38942137;8832110;9857033", "class_list": "", "function": "Deciphering the molecular regulatory of RAB32/GPRC5A axis in chronic obstructive pulmonary disease. Publication Status: Online-Only, [RefSeq, PubMed]; GPRC5A promotes gallbladder cancer metastasis by upregulating TNS4 via the JAK2-STAT3 pathway., [RefSeq, PubMed]; GPRC5A promotes paclitaxel resistance and glucose content in NSCLC., [RefSeq, PubMed]; Orphan receptor. Could be involved in modulating differentiation and maintaining homeostasis of epithelial cells. This retinoic acid-inducible GPCR provide evidence for a possible interaction between retinoid and G protein signaling pathways. Functions as a negative modulator of EGFR signaling (By similarity). May act as a lung tumor suppressor (PubMed:18000218)., [UniProtKB, UniProtKB, PubMed]; This gene encodes a member of the type 3 G protein-coupling receptor family, characterized by the signature 7-transmembrane domain motif. The encoded protein may be involved in interaction between retinoid acid and G protein signalling pathways. Retinoic acid plays a critical role in development, cellular growth, and differentiation. This gene may play a role in embryonic development and epithelial cell differentiation. [provided by RefSeq, Jul 2008]., [RefSeq]; [Inhibitory effect of downregulating G protein-coupled receptor class C group 5 member A expression on lipopolysaccharide-induced inflammatory response in human gingival fibroblasts]., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 9, "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": "B3KV45;O95357", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0030295 protein kinase activator activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043235 receptor complex;GO:0070062 extracellular exosome;GO:0030659 cytoplasmic vesicle membrane;GO:0031982 vesicle", "go_biological_process": "GO:0007165 signal transduction;GO:0007175 negative regulation of epidermal growth factor-activated receptor activity", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q8NFJ5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NI47-1", "uniprot_id": [ { "id": "POTEM_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NI47", "type": "external" } ], "mass": 57067.0, "length": 508, "protein_name": "Putative POTE ankyrin domain family member M", "gene_name": "POTEM", "organism": "Human", "refseq_name": "putative POTE ankyrin domain family member M", "refseq_ac": [ { "id": "NP_001138914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138914", "type": "external" } ], "gene_names_uniprotkb": "POTEM", "gene_names_refseq": "ACT; P704P; POTE14beta; POTEM", "protein_names_uniprotkb": "Putative POTE ankyrin domain family member M", "protein_names_refseq": "ANKRD26-like family C member ENSP00000349402; prostate-specific P704P; putative POTE ankyrin domain family member M", "tax_id": 9606, "disease": "", "pathway": " (hsa:641455)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "11237011", "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": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A6NI47-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VD9-1", "uniprot_id": [ { "id": "PIGZ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VD9", "type": "external" } ], "mass": 63471.0, "length": 579, "protein_name": "GPI alpha-1,2-mannosyltransferase 4", "gene_name": "PIGZ", "organism": "Human", "refseq_name": "GPI alpha-1,2-mannosyltransferase 4", "refseq_ac": [ { "id": "NP_079439", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_079439", "type": "external" } ], "gene_names_uniprotkb": "PIGZ; SMP3", "gene_names_refseq": "GPI-MT-IV; PIG-Z; PIGZ; SMP3", "protein_names_uniprotkb": "GPI alpha-1,2-mannosyltransferase 4; 2.4.1.-; GPI mannosyltransferase IV; GPI-MT-IV; PIG-Z; Phosphatidylinositol-glycan biosynthesis class Z protein; SMP3 homolog; hSMP3", "protein_names_refseq": "GPI alpha-1,2-mannosyltransferase 4; GPI mannosyltransferase 4; GPI mannosyltransferase IV; SMP3 mannosyltransferase; dol-P-Man dependent GPI mannosyltransferase; phosphatidylinositol glycan, class Z; phosphatidylinositol-glycan biosynthesis class Z protein", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:80235); (R-HSA-162710)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "10069808;10089216;10944123;11226175;11237011;11356840;14517336;14742432;15208306;15623507;15632136;15635094;15720390;16162815;20230923;25576301;26992070;29548671;29557506;29789417;30410026;32157095;32387766;32938616;33968037;34509645;35051231;35580925;36010968;8861954;8900170;9463366", "class_list": "glycogene;glycosyltransferase", "function": "Alpha-1,2-mannosyltransferase that catalyzes the transfer of the fourth mannose, via an alpha-1,2 bond, from a dolichol-phosphate-mannose (Dol-P-Man) to a 2-acyl-6-[alpha-D-mannosyl-(1->2)-alpha-D-mannosyl-(1->6)-2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H6) intermediate to generate a 2-acyl-6-[alpha-D-mannosyl-(1->2)-alpha-D-mannosyl-(1->2)-alpha-D-mannosyl-(1->6)-2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed M4C) and participates in the twelfth step of the glycosylphosphatidylinositol-anchor biosynthesis (Probable). The presence of a fourth mannose in GPI is facultative, suggesting that it only exists in some tissues (Probable)., [UniProtKB, PubMed]; Publication also discusses human SMP3, [RefSeq, PubMed]; The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. This gene encodes a protein that is localized to the endoplasmic reticulum, and is involved in GPI anchor biosynthesis. As shown for the yeast homolog, which is a member of a family of dolichol-phosphate-mannose (Dol-P-Man)-dependent mannosyltransferases, this protein can also add a side-branching fourth mannose to GPI precursors during the assembly of GPI anchors. [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": 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "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": 774, "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": "Q9H9G6", "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:0000026 alpha-1,2-mannosyltransferase activity;GO:0000030 mannosyltransferase activity;GO:0120565 dol-P-Man:Man(3)GlcN-acyl-PI alpha-1,2-mannosyltransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006506 GPI anchor biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q86VD9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000100000001.010.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4Q3-1", "uniprot_id": [ { "id": "PRD13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4Q3", "type": "external" } ], "mass": 73981.0, "length": 707, "protein_name": "PR domain zinc finger protein 13", "gene_name": "PRDM13", "organism": "Human", "refseq_name": "PR domain zinc finger protein 13", "refseq_ac": [ { "id": "NP_067633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067633", "type": "external" } ], "gene_names_uniprotkb": "PRDM13; PFM10", "gene_names_refseq": "CDIDHH; MU-MB-20.220; PCH17; PFM10; PRDM13", "protein_names_uniprotkb": "PR domain zinc finger protein 13; 2.1.1.-; PR domain-containing protein 13", "protein_names_refseq": "PR domain 13; PR domain containing 13; PR domain zinc finger protein 13; PR-domain containing protein 13", "tax_id": 9606, "disease": "pontocerebellar hypoplasia (Disease Ontology:DOID:0060264); North Carolina macular dystrophy (Disease Ontology:DOID:0070439); pontocerebellar hypoplasia, IIA 17 (MONDO:MONDO:0030890); cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism (MONDO:MONDO:0859229)", "pathway": " (hsa:59336)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "11237011;24715725;25546159;26992070;28832583;28904123;29242379;29769354;30429286;32265295;32387766;32476814;32938616;32983136;33298915;33912179;34125159;34171305;34526759;34730112;35051231;35390279;35580925;38601016", "class_list": "", "function": "A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1). Publication Status: Online-Only, [RefSeq, PubMed]; A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia., [RefSeq, PubMed]; A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant. Publication Status: Online-Only, [RefSeq, PubMed]; Findings indicate that Prdm13/Nkx2-1-mediated signaling in the DMC declines with advanced age, leading to decreased sleep quality and increased adiposity., [RefSeq, PubMed]; May be involved in transcriptional regulation. Is required for the differentiation of KISS1-expressing neurons in the arcuate (Arc) nucleus of the hypothalamus. Is a critical regulator of GABAergic cell fate in the cerebellum, required for normal postnatal cerebellar development (By similarity)., [UniProtKB, UniProtKB]; North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants., [RefSeq, PubMed]; Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea. 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "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": "Q5TGC1;Q5TGC2", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0042054 histone methyltransferase activity;GO:0061629 RNA polymerase II-specific DNA-binding transcription factor binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0010468 regulation of gene expression;GO:0032259 methylation;GO:0097154 GABAergic neuron differentiation;GO:0021979 hypothalamus cell differentiation", "synthesized_glycan_count": 0, "hit_score": 2.5, "record_id": "Q9H4Q3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48553-1", "uniprot_id": [ { "id": "TPC10_HUMAN", "url": "https://www.uniprot.org/uniprot/P48553", "type": "external" } ], "mass": 142189.0, "length": 1259, "protein_name": "Trafficking protein particle complex subunit 10", "gene_name": "TRAPPC10", "organism": "Human", "refseq_name": "trafficking protein particle complex subunit 10 isoform a", "refseq_ac": [ { "id": "NP_003265", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003265", "type": "external" } ], "gene_names_uniprotkb": "TRAPPC10; EHOC1; TMEM1", "gene_names_refseq": "EHOC-1; EHOC1; GT334; NEDMISS; TMEM1; TRAPPC10; TRS130; TRS30", "protein_names_uniprotkb": "Trafficking protein particle complex subunit 10; EHOC-1; Epilepsy holoprosencephaly candidate 1 protein; Protein GT334; TRAPP subunit TMEM1; Trafficking protein particle complex subunit TMEM1; Transport protein particle subunit TMEM1", "protein_names_refseq": "TRAPP 130 kDa subunit; TRAPP subunit TMEM1; epilepsy holoprosencephaly candidate-1 protein; trafficking protein particle complex 10; trafficking protein particle complex subunit 10 isoform a; trafficking protein particle complex subunit 130; trafficking protein particle complex subunit TMEM1; transmembrane protein 1; transport protein particle subunit TMEM1", "tax_id": 9606, "disease": "agnathia-otocephaly complex (Disease Ontology:DOID:0060341); velocardiofacial syndrome (Disease Ontology:DOID:12583); neurodevelopmental disorder with microcephaly, short stature, and speech delay (MONDO:MONDO:0859285)", "pathway": " (hsa:7109); (R-HSA-204005); (R-HSA-8876198)", "pathway_count": 3, "publication_count": 292, "publication_id_list": "10445031;10559959;10679020;10747087;10788476;10818110;10825291;10903204;10982397;10990452;11035026;11038176;11179213;11237011;11285137;11306556;11516400;11689439;11703925;11746448;11784320;11805826;11917121;11927603;12058051;12070132;12221131;12235121;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15037235;15096524;15138286;1516130;15247254;15302935;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16207721;16303754;16373702;16410077;16495487;16525024;16525121;16571673;16624868;16641372;16754960;16880209;16912714;16950109;17005010;17038314;17043139;17132146;17189207;17192411;17208202;17239822;17287728;17316621;17488286;17562788;17574030;17646400;17671165;17678623;17684057;18076383;18094055;18354496;18367545;1845915;18477474;18559336;18585354;18664496;18701652;18779367;18804435;18843296;1900457;19109890;19164740;19345684;19403694;19490898;19620288;19638414;19651622;19656848;19725050;19729655;19745841;20008558;20068231;20154091;20159109;20159556;20166139;20305638;20308558;20404108;20434987;20545907;20592283;20679433;20797862;20851765;20937701;20966969;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21445324;21458671;21478858;21525244;21532587;21554507;21586568;21683469;21689688;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22157747;22171327;22299025;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22675024;22705394;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23186163;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23479643;23481700;23645161;23678941;23684622;23698585;23713133;23839779;23864707;24119662;24296415;24644286;24694596;24715725;24719330;24891604;24917561;24967941;25074980;25202031;25341920;25343031;25406594;25472813;25492864;25576301;25586378;25619252;25648148;25713415;25880248;25892735;25925668;26055712;26154972;26177209;26245486;26434594;26538022;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27846572;27920218;28218747;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;30167849;30315122;30429286;31467083;31844290;32157095;32265295;32357974;32387766;32938616;32983136;33298915;33592498;33691108;33912179;33936100;33968037;34087483;34171305;34357683;34509645;34932366;35051231;35298461;35580925;36010968;36215666;7633421;7688123;7911226;8144603;8221884;8408203;8522602;8620540;8663406;8863739;9020086;9020161;9030515;9094723;9136770;9150144;9177194;9196060;9307973;9323142;9370297;9590177;9647643;9733780", "class_list": "", "function": "Specific subunit of the TRAPP (transport protein particle) II complex, a highly conserved vesicle tethering complex that functions in late Golgi trafficking as a membrane tether., [UniProtKB, PubMed, PubMed, PubMed]; The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 5, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q3MIR2;Q86SI7;Q9UMD4;Q9Y4L3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0030008 TRAPP complex;GO:1990071 TRAPPII protein complex", "go_biological_process": "GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0006891 intra-Golgi vesicle-mediated transport;GO:0034498 early endosome to Golgi transport;GO:0006901 vesicle coating;GO:0099022 vesicle tethering", "synthesized_glycan_count": 0, "hit_score": 29.3, "record_id": "P48553-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "D3DTV9-1", "uniprot_id": [ { "id": "PRAC2_HUMAN", "url": "https://www.uniprot.org/uniprot/D3DTV9", "type": "external" } ], "mass": 10428.0, "length": 90, "protein_name": "Protein PRAC2", "gene_name": "PRAC2", "organism": "Human", "refseq_name": "protein PRAC2 isoform b precursor", "refseq_ac": [ { "id": "NP_001269204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269204", "type": "external" } ], "gene_names_uniprotkb": "PRAC2; C17orf93; HOXB-AS5; HOXB13-AS1; NCRNA00253", "gene_names_refseq": "C17orf93; HOXB-AS5; HOXB13-AS1; HOXBAS5; NCRNA00253; PRAC2", "protein_names_uniprotkb": "Protein PRAC2; Prostate, rectum and colon expressed gene protein 2", "protein_names_refseq": "HOXB cluster antisense RNA 5; prostate cancer susceptibility candidate 2; prostate, rectum and colon 2; prostate, rectum and colon expressed gene 2 protein; prostate, rectum and colon expressed gene protein 2; protein PRAC2 isoform b precursor; putative protein PRAC2; putative protein PRCA2; small nuclear protein PRAC2", "tax_id": 9606, "disease": "", "pathway": " (hsa:360205)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;12746837;30105866", "class_list": "", "function": "Our study indicated that HOXB13-AS1 could regulate HOXB13 gene expression by methylation HOXB13 promoter and acts as an epigenetic oncogenic in glioma., [RefSeq, PubMed]; PRAC2 may have a function in prostate growth and development(PRAC2), [RefSeq, PubMed]; This gene is highly expressed in prostate, rectum, colon, and testis. This gene may produce a non-coding RNA or may encode a short protein that might localize to the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "D3DTV9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92930-1", "uniprot_id": [ { "id": "RAB8B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92930", "type": "external" } ], "mass": 23584.0, "length": 207, "protein_name": "Ras-related protein Rab-8B", "gene_name": "RAB8B", "organism": "Human", "refseq_name": "ras-related protein Rab-8B", "refseq_ac": [ { "id": "NP_057614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057614", "type": "external" } ], "gene_names_uniprotkb": "RAB8B", "gene_names_refseq": "RAB8B", "protein_names_uniprotkb": "Ras-related protein Rab-8B; 3.6.5.2", "protein_names_refseq": "RAB-8b protein; ras-related protein Rab-8B", "tax_id": 9606, "disease": "Smith-McCort dysplasia (Disease Ontology:DOID:0060247); Dyggve-Melchior-Clausen disease (Disease Ontology:DOID:0111167)", "pathway": " (hsa:51762); (R-HSA-8854214); (R-HSA-8873719); (R-HSA-8876198)", "pathway_count": 4, "publication_count": 270, "publication_id_list": "10202141;10818110;10990452;11038176;11141079;11179213;11237011;11389151;11447212;11516400;11675392;11689439;11703925;11746448;11784320;11917121;12058051;12221131;12244319;12364329;12427552;12475894;12684051;12944476;12972505;15096524;15138286;1516130;15247254;15388334;15528189;15561770;15692570;15878329;15914536;15958533;16055087;16207721;16373702;16395330;16401880;16410077;1648736;16525024;16525121;16571673;16641372;16754960;16880209;16950109;17043139;17114793;17132146;17189207;17208202;17239822;17287728;17411337;17488286;17562788;17574030;17646400;17658474;17671165;17678623;17901050;18076383;18094055;18199687;18319245;18354496;18367545;1845915;18466115;18477474;18532927;18559336;18585354;18664496;18701652;18779367;18804435;1900457;19109890;19345684;19403694;19490898;19603039;19620288;19656848;19725050;19729655;19745841;20008558;20095038;20116244;20154091;20159109;20159556;20305638;20308558;20363736;20404108;20434987;20592283;20797862;20851765;20937701;21041651;2115402;21183348;21187289;21216617;21255211;21273506;21330364;21383079;21421921;21445324;21458671;21532587;21554507;21586568;21683469;21706022;21718402;21776405;21951725;22013193;22065758;22072793;22171327;22219378;22365832;22433857;22511774;22581368;22595670;22613832;22622570;22648168;22653444;22694141;22705394;22762500;22795129;22854040;22908308;22983554;23019362;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378591;23420520;23444368;23478338;23562278;23645161;23678941;23684622;23713133;23839779;24023390;24296415;24644286;24694596;24719330;24891604;24917561;24967941;25074980;25341920;25343031;25472813;25502872;25648148;25713415;25892735;25925668;26055712;26177209;26245486;26434594;26471730;26538022;26925400;26936971;26969162;27041585;27044746;27103185;27246931;27329675;27452731;27920218;28218747;28832583;28904123;29125462;29242379;29351928;29393594;29493099;29557506;29769354;29774024;30315122;30379171;30410026;30626607;30969072;31020640;31707148;31844290;32157095;32344433;32350084;32357974;32897882;32938616;32983136;33043033;33298915;33592498;33633747;33691108;33717175;33936100;33968037;34433824;34932366;35154160;35318648;35580925;36581221;40596516;7688123;7911226;7957092;7991565;8144603;8164745;8349690;8375503;8408203;8513495;8522602;8631982;8662963;8836150;8863739;9020086;9020161;9030196;9030515;9136770;9323142;9590177;9733780", "class_list": "", "function": "RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010]., [RefSeq]; Rab8 GTPase can regulate Klotho-mediated inhibition of Wnt signaling activity by modulating translocation of Klotho onto the cell surface., [RefSeq, PubMed]; Rab8A GTPase Ser(111) phosphorylation is not directly regulated by PINK1 in vitro and demonstrate in cells the time course of Ser(111) phosphorylation of Rab8A, 8B and 13 is markedly delayed compared to phosphorylation of Parkin at Ser(65)., [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). RAB8B may be involved in polarized vesicular trafficking and neurotransmitter release (Probable). May participate in cell junction dynamics in Sertoli cells (By similarity). May also participate in the export of a subset of neosynthesized proteins through a Rab8-Rab10-Rab11-dependent endososomal export route (PubMed:32344433)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; There is significant upregulation of RAB8B in patients with rs1986112 GG and AG genotype compared to AA genotype, suggesting a role in schizophrenia 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": 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": 2, "reported_glycation": 0, "reported_snv": 6, "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": "Q5JPC4;Q9P293", "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:0030911 TPR domain binding;GO:0003924 GTPase activity;GO:0005102 signaling receptor binding;GO:0005525 GTP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0051286 cell tip;GO:0005768 endosome;GO:0005778 peroxisomal membrane;GO:0005886 plasma membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0051461 positive regulation of corticotropin secretion;GO:0006887 exocytosis;GO:0032456 endocytic recycling;GO:0045046 protein import into peroxisome membrane;GO:0019882 antigen processing and presentation", "synthesized_glycan_count": 0, "hit_score": 27.4, "record_id": "Q92930-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IV56-1", "uniprot_id": [ { "id": "PRR15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IV56", "type": "external" } ], "mass": 13715.0, "length": 129, "protein_name": "Proline-rich protein 15", "gene_name": "PRR15", "organism": "Human", "refseq_name": "proline-rich protein 15", "refseq_ac": [ { "id": "NP_001316925", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316925", "type": "external" } ], "gene_names_uniprotkb": "PRR15", "gene_names_refseq": "PRR15", "protein_names_uniprotkb": "Proline-rich protein 15", "protein_names_refseq": "proline-rich protein 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:222171)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;19605793;28380025;30779550;35051231;37072408", "class_list": "", "function": "Enhances trophoblast viability and survival during early implantation and placentation Publication Status: Online-Only, [RefSeq, PubMed]; May have a role in proliferation and/or differentiation., [UniProtKB]; PRR15 deficiency facilitates malignant progression by mediating PI3K/Akt signaling and predicts clinical prognosis in triple-negative rather than non-triple-negative breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Proline-rich 15 is required for conceptus elongation and survival during early ovine pregnancy., [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": 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q8IV56-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4D1T9-1", "uniprot_id": [ { "id": "PRS37_HUMAN", "url": "https://www.uniprot.org/uniprot/A4D1T9", "type": "external" } ], "mass": 26445.0, "length": 235, "protein_name": "Probable inactive serine protease 37", "gene_name": "PRSS37", "organism": "Human", "refseq_name": "probable inactive serine protease 37 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001008271", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008271", "type": "external" } ], "gene_names_uniprotkb": "PRSS37; TRYX2", "gene_names_refseq": "PRSS37; TRYX2", "protein_names_uniprotkb": "Probable inactive serine protease 37; Probable inactive trypsin-X2", "protein_names_refseq": "Peptidase S1 domain-containing protein LOC136242; probable inactive serine protease 37 isoform 1 precursor; probable inactive serine protease 37; probable inactive trypsin-X2; protease, serine 37", "tax_id": 9606, "disease": "", "pathway": " (hsa:136242)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;27649891;31844290;35051231;39302247", "class_list": "", "function": "Plays a role in male fertility (By similarity). May have a role in sperm migration or binding to zona-intact eggs (By similarity). Involved in the activation of the proacrosin/acrosin system (PubMed:27649891)., [UniProtKB, UniProtKB, PubMed]; Sperm with low PRSS37 contents exhibit abnormal activation of the proacrosin/acrosin system and premature proteolysis of ADAM2, which may impair the functional competence of human sperm 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": 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": "B2RPB5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:2000344 positive regulation of acrosome reaction;GO:0006508 proteolysis;GO:0007339 binding of sperm to zona pellucida;GO:0016477 cell migration;GO:0051604 protein maturation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "A4D1T9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62834-1", "uniprot_id": [ { "id": "RAP1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P62834", "type": "external" } ], "mass": 20987.0, "length": 184, "protein_name": "Ras-related protein Rap-1A", "gene_name": "RAP1A", "organism": "Human", "refseq_name": "ras-related protein Rap-1A precursor", "refseq_ac": [ { "id": "NP_001010935", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010935", "type": "external" } ], "gene_names_uniprotkb": "RAP1A; KREV1", "gene_names_refseq": "C21KG; G-22K; KREV-1; KREV1; RAP1A; RAP1; SMGP21", "protein_names_uniprotkb": "Ras-related protein Rap-1A; 3.6.5.2; C21KG; G-22K; GTP-binding protein smg p21A; Ras-related protein Krev-1", "protein_names_refseq": "GTP-binding protein smg p21A; Ras-related protein Krev-1; Ras-related protein Rap-1A; ras-related protein Rap-1A precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:5906); (R-HSA-170968); (R-HSA-170984); (R-HSA-354192); (R-HSA-354194); (R-HSA-372708); (R-HSA-381676); (R-HSA-392517); (R-HSA-5674135); (R-HSA-6798695); (R-HSA-6802946); (R-HSA-6802948); (R-HSA-6802952); (R-HSA-6802955); (R-HSA-8875555); (R-HSA-9649948); (R-HSA-9656223)", "pathway_count": 17, "publication_count": 249, "publication_id_list": "10209122;10318832;10409742;10446041;10608844;10618718;10629055;10725339;10753869;10777559;10871282;10891492;10896934;10964917;11022048;11071853;11146548;11278445;11325826;11359771;11466412;11476890;11802164;11802165;11940607;12005431;12006644;12034449;12040181;12068308;12138161;12180908;12401793;12410638;12444546;12473660;12475787;12479806;12496249;12585966;12640026;12676795;12832465;12938160;13680124;14607972;14636584;14754902;14970219;14988243;15035987;15118098;15157149;15239952;15260967;15334074;15469846;15520807;15543157;15547943;15569269;15630448;15632203;15955806;15995848;16005629;16040750;16076873;16115959;16135787;16284401;16364920;16508002;16581250;16613879;16702958;16757337;16849525;16879721;16919435;16939974;16973695;17018604;17095603;17145850;17178906;17218263;1722201;17306374;17444618;17496912;17509819;17563371;17603482;17603483;17624957;17704304;17900700;17916086;18039662;18202100;18287029;18287102;18412318;18434644;1846040;18559533;18562239;18577758;18974108;18991276;1899909;19091303;19219045;19242111;19279408;19467855;19859570;19861722;19933846;20052757;20058876;20130576;20141835;20179705;20526349;20709748;20818844;20858867;21107323;21424530;21514245;21639808;21779496;21784453;21840392;21993244;22043453;22065583;22113612;22177953;22292133;22356324;22395615;22510884;22569528;22589270;22745804;22826437;23171796;23288408;23352452;23453624;23583981;23614898;23622247;23650620;23667175;23680146;23875798;23934108;24121058;24135138;24202393;24345920;24518591;24651010;24746704;24937142;24957944;2507536;25195011;25204415;25208567;25313996;25435214;25468936;25907612;26214590;26308095;26992070;27227380;27503831;28076410;28904123;28939558;29467321;29557506;30034615;30444036;3045729;30484775;30794926;31154438;3141412;3144274;31844290;3287375;33091337;33214551;33392160;34019948;34229054;34357683;34602545;35294066;35580925;36580660;38682208;39082275;39324266;7513017;7565670;7565795;7589461;7731720;7791872;7806500;7929275;7935411;7997267;8051079;8138058;8157000;8253074;8387505;8404634;8405712;8621540;8631894;8649368;8692836;8755247;8756332;8830891;9020159;9115221;9182757;9346962;9351824;9417641;9488697;9560161;9566877;9733512;9789079;9858547;9867809;9920805", "class_list": "", "function": "Activation of the MEK/ERK Pathway Mediates the Inhibitory Effects of Silvestrol on Nasopharyngeal Carcinoma Cells via RAP1A, HK2, and GADD45A., [RefSeq, PubMed]; ArhGEF12 activates Rap1A and not RhoA in human dermal microvascular endothelial cells to reduce tumor necrosis factor-induced leak., [RefSeq, PubMed]; Counteracts the mitogenic function of Ras, at least partly because it can interact with Ras GAPs and RAF in a competitive manner. Together with ITGB1BP1, regulates KRIT1 localization to microtubules and membranes (PubMed:17916086). Plays a role in nerve growth factor (NGF)-induced neurite outgrowth. Plays a role in the regulation of embryonic blood vessel formation. Involved in the establishment of basal endothelial barrier function. Facilitates the progressive accumulation of CDH1 at mature desmosome junctions via cAMP-dependent signaling and its interaction with PKP3 (PubMed:25208567). May be involved in the regulation of the vascular endothelial growth factor receptor KDR expression at endothelial cell-cell junctions., [UniProtKB, PubMed, PubMed, PubMed]; Rap1 GTPase has functions in malignancy (review) Review article, [RefSeq, PubMed]; Rap1 Small GTPase Regulates Vascular Endothelial-Cadherin-Mediated Endothelial Cell-Cell Junctions and Vascular Permeability. Review article, [RefSeq, PubMed]; Rap1A Modulates Store-Operated Calcium Entry in the Lung Endothelium: A Novel Mechanism Controlling NFAT-Mediated Vascular Inflammation and Permeability., [RefSeq, PubMed]; TRF2-RAP1 represses RAD51-dependent homology-directed telomere repair by promoting BLM-mediated D-loop unwinding and inhibiting BLM-DNA2-dependent 5'-end resection., [RefSeq, PubMed]; This gene encodes a member of the Ras family of small GTPases. The encoded protein undergoes a change in conformational state and activity, depending on whether it is bound to GTP or GDP. This protein is activated by several types of guanine nucleotide exchange factors (GEFs), and inactivated by two groups of GTPase-activating proteins (GAPs). The activation status of the encoded protein is therefore affected by the balance of intracellular levels of GEFs and GAPs. The encoded protein regulates signaling pathways that affect cell proliferation and adhesion, and may play a role in tumor malignancy. Pseudogenes of this gene have been defined on chromosomes 14 and 17. Alternative splicing results in multiple transcript variants. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P10113", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.4.24.81", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.81", "type": "external" }, { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "1.14.19.17", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.17", "type": "external" }, { "id": "5.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:5.2.1.-", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.3.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.20", "type": "external" }, { "id": "2.3.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.76", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.4.21.73", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.21.73", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "1.6.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.-", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "3.1.3.48", "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": "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": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.10.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.4", "type": "external" }, { "id": "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": "3.4.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.24.-", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" }, { "id": "3.2.2.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.2.6", "type": "external" }, { "id": "1.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.-", "type": "external" }, { "id": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "type": "external" }, { "id": "2.7.1.107", "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": "2.3.1.78", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.78", "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": "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:0044877 protein-containing complex binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005737 cytoplasm;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:2000301 negative regulation of synaptic vesicle exocytosis;GO:0061028 establishment of endothelial barrier;GO:0032486 Rap protein signal transduction;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 25.2, "record_id": "P62834-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95716-1", "uniprot_id": [ { "id": "RAB3D_HUMAN", "url": "https://www.uniprot.org/uniprot/O95716", "type": "external" } ], "mass": 24267.0, "length": 219, "protein_name": "Ras-related protein Rab-3D", "gene_name": "RAB3D", "organism": "Human", "refseq_name": "ras-related protein Rab-3D", "refseq_ac": [ { "id": "NP_004274", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004274", "type": "external" } ], "gene_names_uniprotkb": "RAB3D; GOV; RAB16", "gene_names_refseq": "D2-2; GOV; RAB16; RAB3D; RAD3D", "protein_names_uniprotkb": "Ras-related protein Rab-3D; 3.6.5.2", "protein_names_refseq": "Rab3D upregulated with myeloid differentiation; epididymis secretory sperm binding protein; glioblastoma overexpressed; ras-related protein Rab-3D", "tax_id": 9606, "disease": "Smith-McCort dysplasia (Disease Ontology:DOID:0060247); Dyggve-Melchior-Clausen disease (Disease Ontology:DOID:0111167); alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:9545); (R-HSA-6798695); (R-HSA-8873719)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "10023084;11141079;11389151;11447212;11675392;16401880;1648736;17114793;17411337;18532927;19603039;22694141;23650620;24023390;25341920;26969162;26992070;27920218;28467828;28832583;28904123;29125462;29393594;29557506;30429286;31844290;32157095;32265295;32350084;32387766;32488085;32983136;33123756;33592498;33633747;34357683;34433824;35051231;35251023;35318648;35549813;35580925;35616807;35871249;36215666;36241641;36856212;37559140;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8692836;8836150", "class_list": "", "function": "CircECE1 promotes osteosarcoma progression through regulating RAB3D by sponging miR-588. Publication Status: Online-Only, [RefSeq, PubMed]; Hsa_circ_0006732 regulates colorectal cancer cell proliferation, invasion and EMT by miR-127-5p/RAB3D axis., [RefSeq, PubMed]; Hsa_circ_0103232 promotes melanoma cells proliferation and invasion via targeting miR-661/RAB3D., [RefSeq, PubMed]; The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion (By similarity). RAB3D may be involved in the insulin-induced exocytosis of GLUT4-containing vesicles in adipocytes (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; [miR-125b-5p inhibits proliferation and migration of osteosarcoma cells by negatively regulating RAB3D 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": 2, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "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": "3.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.25", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.5.1.92", "url": "https://www.rhea-db.org/rhea/?query=ec:3.5.1.92", "type": "external" }, { "id": "3.2.1.20", "url": "https://www.rhea-db.org/rhea/?query=ec:3.2.1.20", "type": "external" }, { "id": "2.5.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.5.1.18", "type": "external" }, { "id": "2.4.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.-", "type": "external" }, { "id": "2.4.1.275", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.275", "type": "external" }, { "id": "2.4.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.22", "type": "external" }, { "id": "2.4.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.38", "type": "external" }, { "id": "2.4.1.90", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.90", "type": "external" }, { "id": "3.1.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.5", "type": "external" }, { "id": "3.1.3.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.2", "type": "external" }, { "id": "3.1.3.48", "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": "3.4.16.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.16.2", "type": "external" }, { "id": "3.4.23.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.-", "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": "7.6.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "2.3.1.51", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.51", "type": "external" }, { "id": "2.3.1.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.23", "type": "external" }, { "id": "2.3.1.67", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.67", "type": "external" }, { "id": "2.3.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.25", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" }, { "id": "7.6.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:7.6.2.1", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0046872 metal ion binding;GO:0030742 GTP-dependent protein binding;GO:0031489 myosin V binding", "go_cellular_component": "GO:0099503 secretory vesicle;GO:0042588 zymogen granule;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:1903307 positive regulation of regulated secretory pathway;GO:0015031 protein transport;GO:0045453 bone resorption;GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "O95716-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P20337-1", "uniprot_id": [ { "id": "RAB3B_HUMAN", "url": "https://www.uniprot.org/uniprot/P20337", "type": "external" } ], "mass": 24758.0, "length": 219, "protein_name": "Ras-related protein Rab-3B", "gene_name": "RAB3B", "organism": "Human", "refseq_name": "ras-related protein Rab-3B", "refseq_ac": [ { "id": "NP_002858", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002858", "type": "external" } ], "gene_names_uniprotkb": "RAB3B", "gene_names_refseq": "RAB3B", "protein_names_uniprotkb": "Ras-related protein Rab-3B; 3.6.5.2", "protein_names_refseq": "brain antigen RAB3B; ras-related protein Rab-3B", "tax_id": 9606, "disease": "Smith-McCort dysplasia (Disease Ontology:DOID:0060247); Dyggve-Melchior-Clausen disease (Disease Ontology:DOID:0111167); alcohol use disorder (Disease Ontology:DOID:1574); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:5865); (R-HSA-8873719)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "11141079;11389151;11447212;11675392;16401880;1648736;17114793;17411337;18532927;18578522;19415658;19603039;21406692;22694141;24023390;2501306;25341920;26154972;26969162;29125462;29331515;29786170;30379171;31154438;33592498;35871249;36792603;37217939;37882923;38665916;38688977;38834947;7957092;7991565;8164745;8349690;8375503;8513495;8631982;8662963;8836150", "class_list": "", "function": "Circ_0000337 Promotes the Progression of Cervical Cancer by miR-155-5p/RAB3B Axis., [RefSeq, PubMed]; Long noncoding RNA ENST00000436340 promotes podocyte injury in diabetic kidney disease by facilitating the association of PTBP1 with RAB3B. Publication Status: Online-Only, [RefSeq, PubMed]; Pan-cancer analysis reveals correlation between RAB3B expression and tumor heterogeneity, immune microenvironment, and prognosis in multiple cancers. Publication Status: Online-Only, [RefSeq, PubMed]; Rab3B enhances the stabilization of DDX6 to promote lung adenocarcinoma aggressiveness. 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 (PubMed:35871249). 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 (PubMed:35871249)., [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": 2, "reported_glycation": 0, "reported_snv": 3, "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": "Q5VUL2;Q9BSI1", "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:0030742 GTP-dependent protein binding;GO:0019003 GDP binding;GO:0031489 myosin V binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0030141 secretory granule", "go_biological_process": "GO:0051586 positive regulation of dopamine uptake involved in synaptic transmission;GO:0015031 protein transport;GO:0097494 regulation of vesicle size;GO:0006887 exocytosis;GO:0019882 antigen processing and presentation", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "P20337-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H1D9-1", "uniprot_id": [ { "id": "RPC6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H1D9", "type": "external" } ], "mass": 35684.0, "length": 316, "protein_name": "DNA-directed RNA polymerase III subunit RPC6", "gene_name": "POLR3F", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase III subunit RPC6 isoform 2", "refseq_ac": [ { "id": "NP_001269455", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269455", "type": "external" } ], "gene_names_uniprotkb": "POLR3F", "gene_names_refseq": "C34; IMD101; POLR3F; RPC39; RPC6", "protein_names_uniprotkb": "DNA-directed RNA polymerase III subunit RPC6; DNA-directed RNA polymerase III subunit F; RNA polymerase III 39 kDa subunit; RNA polymerase III subunit C6; RPC39", "protein_names_refseq": "DNA-directed RNA polymerase III subunit RPC6 isoform 2; DNA-directed RNA polymerase III subunit RPC6; RNA polymerase III C39 subunit; RNA polymerase III subunit C6; polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa; polymerase (RNA) III subunit F", "tax_id": 9606, "disease": "immunodeficiency 101 (Disease Ontology:DOID:0061071)", "pathway": " (hsa:10621); (R-HSA-1834949); (R-HSA-73780); (R-HSA-73980); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066); (R-HSA-76071)", "pathway_count": 8, "publication_count": 79, "publication_id_list": "10421633;10523658;11056176;11118217;11237011;11416169;11419933;11463379;12381659;12391170;18377933;19158675;19158676;19158679;1946469;19609254;19631370;20413673;21358628;21398614;23251783;23388631;2404611;24366607;25218447;25576301;25772364;25892735;26992070;28514659;28832583;28855257;28904123;29242379;29493099;29557506;29769354;30211253;30410026;30429286;30484775;30833945;31092671;31222486;31530632;31844290;32157095;32161166;32350084;32357974;32938616;32983136;33123756;33298915;33335104;33558764;33558766;33674783;33691108;33968037;33981976;34405274;34675218;35051231;35251023;35580925;7568218;7891697;7995525;8035818;8308883;8407894;8423814;9003788;9171375;9234698;9312031;9418884;9660958", "class_list": "", "function": "DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:20413673, PubMed:21358628, PubMed:33558764, PubMed:34675218). Specific peripheric component of RNA polymerase III (Pol III) which synthesizes small non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci. Part of POLR3C/RPC3-POLR3F/RPC6-POLR3G/RPC7 heterotrimer that coordinates the dynamics of Pol III stalk and clamp modules during the transition from apo to elongation state (PubMed:20413673, PubMed:33558764, PubMed:33558766). Pol III plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses, including varicella zoster virus. Acts as a nuclear and cytosolic DNA sensor detecting AT-rich DNA, involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF-kappa-B through the RIG-I pathway (PubMed:19609254, PubMed:19631370, PubMed:30211253). Preferentially binds double-stranded DNA (dsDNA) (PubMed:21358628)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The protein encoded by this gene is one of more than a dozen subunits forming eukaryotic RNA polymerase III (RNA Pol III), which transcribes 5S ribosomal RNA and tRNA genes. This protein has been shown to bind both TFIIIB90 and TBP, two subunits of RNA polymerase III transcription initiation factor IIIB (TFIIIB). Unlike most of the other RNA Pol III subunits, the encoded protein is unique to this polymerase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "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": "A8K4C7;O15319", "ec_number_list": [], "go_molecular_function": "GO:0051539 4 iron, 4 sulfur cluster binding;GO:0003690 double-stranded DNA binding;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005666 RNA polymerase III complex;GO:0005737 cytoplasm", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0006383 transcription by RNA polymerase III;GO:0006386 termination of RNA polymerase III transcription;GO:0045089 positive regulation of innate immune response", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q9H1D9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35244-1", "uniprot_id": [ { "id": "RFA3_HUMAN", "url": "https://www.uniprot.org/uniprot/P35244", "type": "external" } ], "mass": 13569.0, "length": 121, "protein_name": "Replication protein A 14 kDa subunit", "gene_name": "RPA3", "organism": "Human", "refseq_name": "replication protein A 14 kDa subunit", "refseq_ac": [ { "id": "NP_002938", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002938", "type": "external" } ], "gene_names_uniprotkb": "RPA3; REPA3; RPA14", "gene_names_refseq": "REPA3; RP-A p14; RPA3", "protein_names_uniprotkb": "Replication protein A 14 kDa subunit; RF-A protein 3; RP-A p14; Replication factor A protein 3", "protein_names_refseq": "RF-A protein 3; replication factor A protein 3; replication protein A 14 kDa subunit; replication protein A3, 14kDa", "tax_id": 9606, "disease": "", "pathway": " (hsa:6119); (R-HSA-110312); (R-HSA-110314); (R-HSA-110320); (R-HSA-174437); (R-HSA-176187); (R-HSA-3371453); (R-HSA-3371511); (R-HSA-5358565); (R-HSA-5358606); (R-HSA-5651801); (R-HSA-5655862); (R-HSA-5656121); (R-HSA-5656169); (R-HSA-5685938); (R-HSA-5685942); (R-HSA-5693537); (R-HSA-5693607); (R-HSA-5693616); (R-HSA-5696395); (R-HSA-5696397); (R-HSA-5696400); (R-HSA-6782135); (R-HSA-6782210); (R-HSA-6783310); (R-HSA-6804756); (R-HSA-68962); (R-HSA-69166); (R-HSA-69473); (R-HSA-912446); (R-HSA-9709570)", "pathway_count": 31, "publication_count": 535, "publication_id_list": 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"class_list": "", "function": "As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage (PubMed:17596542, PubMed:9430682). In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruitment of ATRIP activates the ATR kinase a master regulator of the DNA damage response (PubMed:24332808). It is required for the recruitment of the DNA double-strand break repair factors RAD51 and RAD52 to chromatin, in response to DNA damage. Also recruits to sites of DNA damage proteins like XPA and XPG that are involved in nucleotide excision repair and is required for this mechanism of DNA repair (PubMed:7697716). Also plays a role in base excision repair (BER), probably through interaction with UNG (PubMed:9765279). RPA stimulates 5'-3' helicase activity of BRIP1/FANCJ (PubMed:17596542). Also recruits SMARCAL1/HARP, which is involved in replication fork restart, to sites of DNA damage. May also play a role in telomere maintenance. RPA3 has its own single-stranded DNA-binding activity and may be responsible for polarity of the binding of the complex to DNA (PubMed:19010961). As part of the alternative replication protein A complex, aRPA, binds single-stranded DNA and probably plays a role in DNA repair. Compared to the RPA2-containing, canonical RPA complex, may not support chromosomal DNA replication and cell cycle progression through S-phase. The aRPA may not promote efficient priming by DNA polymerase alpha but could support DNA synthesis by polymerase delta in presence of PCNA and replication factor C (RFC), the dual incision/excision reaction of nucleotide excision repair and RAD51-dependent strand exchange (PubMed:19996105)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Knockdown of replication protein A 3 induces protective autophagy and enhances cisplatin sensitivity in lung adenocarcinoma by inhibiting AKT/mTOR signaling via binding to cyclin-dependent kinases regulatory subunit 2., [RefSeq, PubMed]; Overexpression of replication protein A3 is associated with unfavorable outcome in bladder urothelial carcinoma., [RefSeq, PubMed]; RPA3 promotes the proliferation, migration, and invasion of gliomas by activating the PI3K-AKT-mTOR pathway. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": "Q549U6", "ec_number_list": [], "go_molecular_function": "GO:0003684 damaged DNA binding;GO:0003697 single-stranded DNA binding;GO:0003677 DNA binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0035861 site of double-strand break;GO:0005662 DNA replication factor A complex;GO:0031981 nuclear lumen", "go_biological_process": "GO:0006281 DNA repair;GO:0006284 base-excision repair;GO:0000723 telomere maintenance;GO:0006260 DNA replication;GO:0006298 mismatch repair", "synthesized_glycan_count": 0, "hit_score": 53.8, "record_id": "P35244-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WV19-1", "uniprot_id": [ { "id": "SFT2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WV19", "type": "external" } ], "mass": 17804.0, "length": 159, "protein_name": "Vesicle transport protein SFT2A", "gene_name": "SFT2D1", "organism": "Human", "refseq_name": "vesicle transport protein SFT2A", "refseq_ac": [ { "id": "NP_660152", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660152", "type": "external" } ], "gene_names_uniprotkb": "SFT2D1; C6orf83", "gene_names_refseq": "C6orf83; SFT2D1; pRGR1", "protein_names_uniprotkb": "Vesicle transport protein SFT2A; SFT2 domain-containing protein 1; pRGR1", "protein_names_refseq": "SFT2 domain-containing protein 1; vesicle transport protein SFT2A", "tax_id": 9606, "disease": "", "pathway": " (hsa:113402)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "23481700;28228285;28446606;28832583;29557506;30315122;30429286;31611695;31844290;31848261;32350084;32387766;33298915;34509645;37217939", "class_list": "", "function": "May be involved in fusion of retrograde transport vesicles derived from an endocytic compartment with the Golgi complex., [UniProtKB, UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TI64;Q9UIC7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0015031 protein transport;GO:0016192 vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q8WV19-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NVH7-1", "uniprot_id": [ { "id": "SWAP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NVH7", "type": "external" } ], "mass": 26597.0, "length": 250, "protein_name": "ATPase SWSAP1", "gene_name": "SWSAP1", "organism": "Human", "refseq_name": "ATPase SWSAP1", "refseq_ac": [ { "id": "NP_787067", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_787067", "type": "external" } ], "gene_names_uniprotkb": "SWSAP1; C19orf39", "gene_names_refseq": "C19orf39; SWS1AP1; SWSAP1; ZSWIM7AP1", "protein_names_uniprotkb": "ATPase SWSAP1; 3.6.4.-; SWIM-type zinc finger 7-associated protein 1; SWS1-associated protein 1; ZSWIM7-associated protein 1; ZSWIM7AP1", "protein_names_refseq": "ATPase SWSAP1; SWS1-associated protein 1; ZSWIM7-associated protein 1; zinc finger, SWIM-type containing 7 associated protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:126074)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "21965664;30379171;30926776;31665741;34253720;39169038;39894887;40345587;40991243", "class_list": "", "function": "Our study uncovers a protein complex, which consists of SWS1, SWSAP1, SPIDR and PDS5B, involved in DNA repair and provides insight into Shu complex function and composition., [RefSeq, PubMed]; SWSAP1 protects RAD51 filaments by antagonizing the anti-recombinase, FIGNL1. Publication Status: Online-Only, [RefSeq, PubMed]; Single-stranded DNA-stimulated ATPase involved in DNA double-strand break (DSB) repair via homologous recombination (HR) (PubMed:21965664, PubMed:34253720, PubMed:39169038, PubMed:40345587). Forms a heterodimeric complex with ZSWIM7/SWS1 that promotes HR by regulating replication protein-A (RPA) dynamics on single-stranded DNA, thereby stabilizing RAD51 and DMC1 filaments on DNA (PubMed:34253720, PubMed:39169038, PubMed:40345587). The SWSAP1-ZSWIM7/SWS1 heterodimer is essential during meiosis by stabilizing DMC1 filaments (By similarity). In contrast, it is critical for only certain types of homologous-directed DNA repair, such as inter-homolog homologous recombination (IR-HR) (PubMed:34253720). IR-HR is a DNA repair mechanism where a cell repairs a DSB on one chromosome using the matching homologous chromosome as a template, rather than the sister chromatid (PubMed:34253720). Also promotes homologous recombination by inactivating the FIGNL1-FIRRM complex to protect RAD51 filament from premature disassembly (PubMed:30926776). Has a DNA-binding activity which is independent of its ATPase activity: preferentially binds DNA with an exposed 5' end (PubMed:40345587)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; The human Shu complex (hSWS1.SWSAP1) has an evolutionarily conserved function in homologous recombination, [RefSeq, PubMed]; The human Shu complex promotes RAD51 activity by modulating RPA dynamics on ssDNA. 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": 4, "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": "A0A6I8PRB2;Q8NAM1", "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:0016887 ATP hydrolysis activity;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0097196 Shu complex", "go_biological_process": "GO:0050821 protein stabilization;GO:0000724 double-strand break repair via homologous recombination", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q6NVH7-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N4B5-1", "uniprot_id": [ { "id": "PRR18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N4B5", "type": "external" } ], "mass": 30926.0, "length": 295, "protein_name": "Proline-rich protein 18", "gene_name": "PRR18", "organism": "Human", "refseq_name": "proline-rich protein 18", "refseq_ac": [ { "id": "NP_787118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_787118", "type": "external" } ], "gene_names_uniprotkb": "PRR18", "gene_names_refseq": "PRR18", "protein_names_uniprotkb": "Proline-rich protein 18", "protein_names_refseq": "proline rich region 18; proline-rich protein 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:285800)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;23481700;27846572;28904123;29557506;31848261;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": 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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q8N4B5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C881-1", "uniprot_id": [ { "id": "R10B1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C881", "type": "external" } ], "mass": 100635.0, "length": 870, "protein_name": "Radial spoke head 10 homolog B", "gene_name": "RSPH10B", "organism": "Human", "refseq_name": "radial spoke head 10 homolog B", "refseq_ac": [ { "id": "NP_775836", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775836", "type": "external" } ], "gene_names_uniprotkb": "RSPH10B", "gene_names_refseq": "RSPH10B", "protein_names_uniprotkb": "Radial spoke head 10 homolog B", "protein_names_refseq": "radial spoke head 10 homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:222967)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;30379171;31429579", "class_list": "", "function": "May function as part of the axonemal radial spoke complex 3 (RS3). Radial spoke complexes are important for ciliary motility., [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": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NMW7;Q86ST9;Q8NE68", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005929 cilium;GO:0036126 sperm flagellum;GO:0005930 axoneme;GO:0097729 9+2 motile cilium", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "P0C881-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P04053-1", "uniprot_id": [ { "id": "TDT_HUMAN", "url": "https://www.uniprot.org/uniprot/P04053", "type": "external" } ], "mass": 58536.0, "length": 509, "protein_name": "DNA nucleotidylexotransferase", "gene_name": "DNTT", "organism": "Human", "refseq_name": "DNA nucleotidylexotransferase isoform 2", "refseq_ac": [ { "id": "NP_001017520", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017520", "type": "external" } ], "gene_names_uniprotkb": "DNTT; TDT", "gene_names_refseq": "DNTT; TDT", "protein_names_uniprotkb": "DNA nucleotidylexotransferase; 2.7.7.31; Terminal addition enzyme; Terminal deoxynucleotidyltransferase; Terminal transferase", "protein_names_refseq": "DNA nucleotidylexotransferase isoform 2; nucleosidetriphosphate:DNA deoxynucleotidylexotransferase; terminal addition enzyme; terminal deoxynucleotidyltransferase; terminal deoxyribonucleotidyltransferase; terminal transferase", "tax_id": 9606, "disease": "acute lymphoblastic leukemia (Disease Ontology:DOID:9952)", "pathway": " (hsa:1791)", "pathway_count": 1, "publication_count": 20, "publication_id_list": "11473582;11554927;12786946;12960389;16371131;18491316;25576301;2833741;2863268;30379171;30524438;32897882;3395350;37217939;37858544;38579576;39003273;39199349;6087320;8163485", "class_list": "", "function": "Computational Modeling Study of the Molecular Basis of dNTP Selectivity in Human Terminal Deoxynucleotidyltransferase. Publication Status: Online-Only, [RefSeq, PubMed]; DNA strand displacement and TdT-Mediated DNA extension for swift, convenient, and quantitative evaluation of sperm DNA integrity and its clinical implications., [RefSeq, PubMed]; Template-independent DNA polymerase which catalyzes the random addition of deoxynucleoside 5'-triphosphate to the 3'-end of a DNA initiator. One of the in vivo functions of this enzyme is the addition of nucleotides at the junction (N region) of rearranged Ig heavy chain and T-cell receptor gene segments during the maturation of B- and T-cells., [UniProtKB, UniProtKB]; Terminal deoxynucleotidyl transferase and CD84 identify human multi-potent lymphoid progenitors. Publication Status: Online-Only, [RefSeq, PubMed]; Terminal deoxynucleotidyl transferase expression in different subtypes of childhood B-cell acute lymphoblastic leukemia., [RefSeq, PubMed]; This gene is a member of the DNA polymerase type-X family and encodes a template-independent DNA polymerase that catalyzes the addition of deoxynucleotides to the 3'-hydroxyl terminus of oligonucleotide primers. In vivo, the encoded protein is expressed in a restricted population of normal and malignant pre-B and pre-T lymphocytes during early differentiation, where it generates antigen receptor diversity by synthesizing non-germ line elements (N-regions) at the junctions of rearranged Ig heavy chain and T cell receptor gene segments. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 1, "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": "Q53FH1;Q5W103;Q96E50", "ec_number_list": [ { "id": "2.7.7.49", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.49", "type": "external" }, { "id": "3.1.21.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.21.-", "type": "external" }, { "id": "2.7.7.7", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.7", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "2.7.7.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.31", "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": "3.1.26.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.4", "type": "external" }, { "id": "3.4.23.50", "url": "https://www.rhea-db.org/rhea/?query=ec:3.4.23.50", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.7.102", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.102", "type": "external" } ], "go_molecular_function": "GO:0003887 DNA-directed DNA polymerase activity;GO:0003677 DNA binding;GO:0046872 metal ion binding;GO:0003912 DNA nucleotidylexotransferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006259 DNA metabolic process;GO:0006303 double-strand break repair via nonhomologous end joining;GO:0006304 DNA modification", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "P04053-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NBV4-1", "uniprot_id": [ { "id": "PLPP7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NBV4", "type": "external" } ], "mass": 29448.0, "length": 271, "protein_name": "Inactive phospholipid phosphatase 7", "gene_name": "PLPP7", "organism": "Human", "refseq_name": "inactive phospholipid phosphatase 7 isoform 1", "refseq_ac": [ { "id": "NP_116117", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116117", "type": "external" } ], "gene_names_uniprotkb": "PLPP7; C9orf67; PPAPDC3", "gene_names_refseq": "C9orf67; NET39; PLPP7; PPAPDC3", "protein_names_uniprotkb": "Inactive phospholipid phosphatase 7; Phosphatidic acid phosphatase type 2 domain-containing protein 3", "protein_names_refseq": "epididymis secretory sperm binding protein; inactive phospholipid phosphatase 7 isoform 1; inactive phospholipid phosphatase 7; nuclear envelope transmembrane protein NET39; phosphatidic acid phosphatase type 2 domain containing 3; phosphatidic acid phosphatase type 2 domain-containing protein 3; probable lipid phosphate phosphatase PPAPDC3", "tax_id": 9606, "disease": "", "pathway": " (hsa:84814)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;16303743;19704009;26154972;28904123;29557506;30429286;31154438;31844290;31848261;32157095;32387766;32502341;32938616;33514739;33936100", "class_list": "", "function": "NET39 is a muscle-enriched nuclear envelope transmembrane protein, which regulates initiation of myogenic differentiation via affecting mTOR-IGF-II pathway., [RefSeq, PubMed]; Plays a role as negative regulator of myoblast differentiation, in part through effects on MTOR signaling. Has no detectable enzymatic activity (By similarity)., [UniProtKB]; The nuclear envelope protein Net39 is essential for muscle nuclear integrity and chromatin organization. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q5T6P0;Q96SS7;Q9BRC3", "ec_number_list": [], "go_molecular_function": "GO:0042392 sphingosine-1-phosphate phosphatase activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8NBV4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96M27-1", "uniprot_id": [ { "id": "PRRC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96M27", "type": "external" } ], "mass": 46701.0, "length": 445, "protein_name": "Protein PRRC1", "gene_name": "PRRC1", "organism": "Human", "refseq_name": "protein PRRC1 isoform 1", "refseq_ac": [ { "id": "NP_001273737", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273737", "type": "external" } ], "gene_names_uniprotkb": "PRRC1", "gene_names_refseq": "PRRC1", "protein_names_uniprotkb": "Protein PRRC1; Proline-rich and coiled-coil-containing protein 1", "protein_names_refseq": "proline-rich and coiled-coil-containing protein 1; protein PRRC1 isoform 1; protein PRRC1", "tax_id": 9606, "disease": "", "pathway": " (hsa:133619)", "pathway_count": 1, "publication_count": 77, "publication_id_list": "15541471;18669648;19748539;20018846;20068231;20305658;22661428;23186163;23481700;25418920;25505266;25645385;25880248;25892735;26154972;26811146;26992070;27600516;27655845;27920218;28063628;28218747;28228285;28467828;28649982;28904123;29242379;29351928;29393594;29485866;29557506;29632046;29769354;30315122;30410026;31154438;31373491;31530632;31844290;32119511;32157095;32265295;32350084;32357974;32387766;32488085;32938616;32938750;32983136;33214551;33298915;33592498;33717175;33968037;34019948;34087483;34171305;34509645;34725712;34931806;35051231;35132862;35138101;35251023;35580925;36010968;36215666;36241641;36581221;38253038;38665916;39302247;39531497;39534244;40307207;40596516;40914422", "class_list": "", "function": "May act as a regulator of the protein kinase A (PKA) activity during embryonic development., [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": 35, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 35, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 35, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 44, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 35, "binding_glycan_count": 0, "secondary_ac_list": "Q69YM8;Q7L2U7;Q86Y42;Q8IVJ4;Q8IVL4;Q8NEZ7;Q96AJ3", "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:0005794 Golgi apparatus", "go_biological_process": "GO:0010669 epithelial structure maintenance", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "Q96M27-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVY7-1", "uniprot_id": [ { "id": "UBCP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVY7", "type": "external" } ], "mass": 36805.0, "length": 318, "protein_name": "Ubiquitin-like domain-containing CTD phosphatase 1", "gene_name": "UBLCP1", "organism": "Human", "refseq_name": "ubiquitin-like domain-containing CTD phosphatase 1", "refseq_ac": [ { "id": "NP_659486", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_659486", "type": "external" } ], "gene_names_uniprotkb": "UBLCP1", "gene_names_refseq": "CPUB1; UBLCP1", "protein_names_uniprotkb": "Ubiquitin-like domain-containing CTD phosphatase 1; 3.1.3.16; Nuclear proteasome inhibitor UBLCP1", "protein_names_refseq": "CTD phosphatase-like with ubiquitin domain 1; CTD-like phosphatase domain-containing protein; nuclear proteasome inhibitor UBLCP1; ubiquitin-like domain-containing CTD phosphatase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:134510)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "15883030;19608861;20068231;21949367;22223895;22544926;23301498;23481700;23667555;24715725;25576301;25645385;26154972;27846572;27862975;28218747;28228285;28514659;28539385;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29632711;29786170;30315122;30379171;30524438;31154438;31217245;31843888;31844290;31848261;31937595;32071216;32157095;32161166;32357974;32387766;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33912179;33968037;33981976;34019948;34171305;34405274;34509645;34561969;35051231;35561310;35580925;36010968;36284347;37217939;38129378;40914422", "class_list": "", "function": "A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity. Publication Status: Online-Only, [RefSeq, PubMed]; Data show that UBLCP1 selectively binds to the 26S proteasome non-ATPase regulatory subunit 13 (19S regulatory particle) in regulating proteasome assembly., [RefSeq, PubMed]; Dephosphorylates 26S nuclear proteasomes, thereby decreasing their proteolytic activity (PubMed:21949367, PubMed:28539385). Recruited to the 19S regulatory particle of the 26S proteasome through its interaction with 19S component PSMD2/RPN1 (PubMed:28539385). Once recruited, dephosphorylates 19S component PSMC2/RPT1 which impairs PSMC2 ATPase activity and disrupts 26S proteasome assembly (PubMed:28539385). Has also been reported to stimulate the proteolytic activity of the 26S proteasome (PubMed:32071216)., [UniProtKB, PubMed, PubMed, PubMed]; Study provides evidence that Rpn1-Ser361 is a prevalent phosphosite that is required for proper assembly and activity of the 26S proteasome and identified multiple kinases, including PIM1/2/3, that can phosphorylate Rpn1-S361 and have demonstrated that UBLCP1 is a physiologically relevant phosphatase of this site. Blocking phosphorylation of Rpn1-S361 leads to slowed proliferation and mitochondrial dysfunction., [RefSeq, PubMed]; The high-resolution solution structure of the UBL domain of human UBLCP1 and its interaction with Rpn1 Publication Status: Online-Only, [RefSeq, PubMed]; UBLCP1 is a 26S proteasome phosphatase that regulates nuclear proteasome 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": 1, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "D3DQJ7;Q96DK5", "ec_number_list": [ { "id": "3.1.3.16", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.16", "type": "external" }, { "id": "3.1.3.48", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.48", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.67", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.67", "type": "external" }, { "id": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004722 protein serine/threonine phosphatase activity;GO:1904855 proteasome regulatory particle binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0032780 negative regulation of ATP-dependent activity;GO:0090364 regulation of proteasome assembly", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q8WVY7-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99590-1", "uniprot_id": [ { "id": "SCAFB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99590", "type": "external" } ], "mass": 164652.0, "length": 1463, "protein_name": "Protein SCAF11", "gene_name": "SCAF11", "organism": "Human", "refseq_name": "protein SCAF11", "refseq_ac": [ { "id": "NP_004710", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004710", "type": "external" } ], "gene_names_uniprotkb": "SCAF11; CASP11; SFRS2IP; SIP1; SRSF2IP", "gene_names_refseq": "CASP11; SCAF11; SFRS2IP; SIP1; SRRP129; SRSF2IP", "protein_names_uniprotkb": "Protein SCAF11; CTD-associated SR protein 11; Renal carcinoma antigen NY-REN-40; SC35-interacting protein 1; SR-related and CTD-associated factor 11; SRSF2-interacting protein; SRrp129; Serine/arginine-rich splicing factor 2-interacting protein; Splicing factor, arginine/serine-rich 2-interacting protein; Splicing regulatory protein 129", "protein_names_refseq": "CTD-associated SR protein 11; SC35-interacting protein 1; SFRS2-interacting protein; SR-related and CTD-associated factor 11; SRSF2-interacting protein; protein SCAF11; renal carcinoma antigen NY-REN-40; serine/arginine-rich splicing factor 2-interacting protein; splicing factor, arginine/serine-rich 2-interacting protein; splicing regulatory protein 129", "tax_id": 9606, "disease": "", "pathway": " (hsa:9169)", "pathway_count": 1, "publication_count": 124, "publication_id_list": "10.1101/2023.09.13.557529;10508479;11237011;15302935;17081983;17287340;17322306;17525332;18077418;18220336;18452278;18669648;18707149;18767875;19413330;19651622;19664994;19664995;19690332;20068231;20112406;20166139;20230923;21406692;22544926;22645359;23186163;23301498;23481700;24129315;24275569;24366607;24714562;24715725;25114211;25218447;25505266;25576301;25645385;25772364;25880248;25892735;26024233;26154972;26375851;26728094;26768311;26811146;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;30379171;30410026;30484775;30524438;31540894;31844290;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33537174;33546173;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34185709;34211107;34405274;34509645;34932366;35051231;35138101;35154160;35318648;35580925;36010968;36215666;36241641;36284347;36763010;37938771;38665916;39534244;40596516;9224939;9447963", "class_list": "", "function": "CASP4/11 Contributes to NLRP3 Activation and COVID-19 Exacerbation., [RefSeq, PubMed]; Plays a role in pre-mRNA alternative splicing by regulating spliceosome assembly., [UniProtKB, PubMed]; Regulation, Activation and Function of Caspase-11 during Health and Disease. Review article 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": 3, "reported_o_glycosites_with_glycan": 13, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 13, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 13, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 64, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 69, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "A6NEU9;A6NLW5;Q8IW59", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0016604 nuclear body", "go_biological_process": "GO:0000375 RNA splicing, via transesterification reactions;GO:0006397 mRNA processing;GO:0008380 RNA splicing;GO:0000245 spliceosomal complex assembly", "synthesized_glycan_count": 0, "hit_score": 14.6, "record_id": "Q99590-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M3M2-1", "uniprot_id": [ { "id": "SC5A9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M3M2", "type": "external" } ], "mass": 74073.0, "length": 681, "protein_name": "Sodium/glucose cotransporter 4", "gene_name": "SLC5A9", "organism": "Human", "refseq_name": "sodium/glucose cotransporter 4 isoform 2", "refseq_ac": [ { "id": "NP_001011547", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011547", "type": "external" } ], "gene_names_uniprotkb": "SLC5A9; SGLT4", "gene_names_refseq": "SGLT4; SLC5A9", "protein_names_uniprotkb": "Sodium/glucose cotransporter 4; Na(+)/glucose cotransporter 4; Solute carrier family 5 member 9; hSGLT4", "protein_names_refseq": "Na(+)/glucose cotransporter 4; hSGLT4; sodium/glucose cotransporter 4 isoform 2; sodium/glucose cotransporter 4; solute carrier family 5 (sodium/glucose cotransporter), member 9; solute carrier family 5 (sodium/sugar cotransporter), member 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:200010); (R-HSA-189200)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10821868;10860667;10970791;10987651;11133510;11237011;11245466;11247674;11425315;11583593;11681785;11741323;11780755;11832379;11994746;12504846;12590146;12885248;1415574;14614622;14739288;14997204;15033637;15607332;15902306;16154905;16550171;17050778;1756912;17635959;18063724;18327257;1918382;20616166;20800603;21107422;21940664;22212718;22521588;24275569;2656669;26650681;30459171;32938616;34321228;35051231;35077764;38253038;8457197;9354798;9751501", "class_list": "", "function": "Electrogenic Na(+)-coupled sugar symporter that may play a primary role in D-mannose and possibly D-fructose and D-glucose transport at the plasma membrane. Transporter activity is driven by a transmembrane Na(+) electrochemical gradient set by the Na(+)/K(+) pump. Exclusively recognizes sugar substrates having a pyranose ring with an axial hydroxyl group on carbon 2., [UniProtKB, PubMed, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SGLT4 would have unique physiological functions (i.e., absorption and/or reabsorption of Man, 1,5AG, and Fru, in addition to Glc). Erratum:[Life Sci. 2010 Oct 9;87(15-16):514], [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": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KY87;B7ZL45;B7ZL47;E9PAK4;E9PJ08;Q5TET3", "ec_number_list": [], "go_molecular_function": "GO:0005362 low-affinity D-glucose:sodium symporter activity;GO:0022857 transmembrane transporter activity;GO:0015370 solute:sodium symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016020 membrane", "go_biological_process": "GO:0008645 hexose transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q2M3M2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWN7-1", "uniprot_id": [ { "id": "RP1L1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWN7", "type": "external" } ], "mass": 252289.0, "length": 2400, "protein_name": "Retinitis pigmentosa 1-like 1 protein", "gene_name": "RP1L1", "organism": "Human", "refseq_name": "retinitis pigmentosa 1-like 1 protein", "refseq_ac": [ { "id": "NP_849188", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_849188", "type": "external" } ], "gene_names_uniprotkb": "RP1L1", "gene_names_refseq": "DCDC4B; OCMD; RP1L1; RP88", "protein_names_uniprotkb": "Retinitis pigmentosa 1-like 1 protein", "protein_names_refseq": "doublecortin domain containing 4B; retinitis pigmentosa 1 like 1; retinitis pigmentosa 1-like 1 protein", "tax_id": 9606, "disease": "occult macular dystrophy (Disease Ontology:DOID:0050578); retinitis pigmentosa 88 (Disease Ontology:DOID:0112145); eye disease (Disease Ontology:DOID:5614)", "pathway": " (hsa:94137)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "12634863;12724644;20826268;22605915;28411811;29557506;30025130;30379171;30620550;30833945;31236346;31492838;31833436;32176261;32488085;32502341;32940107;34865606;35051231;38265784;38485037", "class_list": "", "function": "A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region., [RefSeq, PubMed]; Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4., [RefSeq, PubMed]; RP1L1 rs3924612 gene polymorphism and RP1L1 protein associations among patients with early age-related macular degeneration., [RefSeq, PubMed]; Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment of rod and cone photoreceptors (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Research progress of RP1L1 gene in disease. Review article, [RefSeq, PubMed]; The RP1L1 gene encodes a large, highly polymorphic, retinal-specific protein. No RP1L1 disease-causing mutations were identified in any of the samples tested. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010]., [RefSeq]; Two recurrent RP1L1 variants are related to occult macular dystrophy in the Chinese population., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 97, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "A6NKC6;Q86SQ1;Q8IWN8;Q8IWN9;Q8IWP0;Q8IWP1;Q8IWP2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005874 microtubule;GO:0005930 axoneme;GO:0032391 photoreceptor connecting cilium;GO:0001750 photoreceptor outer segment", "go_biological_process": "GO:0035556 intracellular signal transduction;GO:0007601 visual perception;GO:0045494 photoreceptor cell maintenance;GO:0060041 retina development in camera-type eye;GO:0035845 photoreceptor cell outer segment organization", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8IWN7-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTT9-1", "uniprot_id": [ { "id": "S29A4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTT9", "type": "external" } ], "mass": 58059.0, "length": 530, "protein_name": "Equilibrative nucleoside transporter 4", "gene_name": "SLC29A4", "organism": "Human", "refseq_name": "equilibrative nucleoside transporter 4 isoform 1", "refseq_ac": [ { "id": "NP_001035751", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035751", "type": "external" } ], "gene_names_uniprotkb": "SLC29A4; ENT4; PMAT; PSEC0113", "gene_names_refseq": "ENT4; PMAT; SLC29A4", "protein_names_uniprotkb": "Equilibrative nucleoside transporter 4; PMAT; Plasma membrane monoamine transporter; Solute carrier family 29 member 4; hENT4", "protein_names_refseq": "equilibrative nucleoside transporter 4 isoform 1; equilibrative nucleoside transporter 4; plasma membrane monoamine transporter; solute carrier family 29 (equilibrative nucleoside transporter), member 4; solute carrier family 29 (nucleoside transporters), member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:222962); (R-HSA-83936)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10.1101/2023.09.13.557529;10455109;11032837;11237011;11809823;12446811;15448143;15701636;16099839;16873718;17018840;17121826;17393420;18940313;18981177;19368893;20592246;20858707;22396231;23255610;24911211;2648994;26992070;28834231;29242379;29557506;30885951;31537831;31844290;32157095;32488085;34551672;36010968;37458617;5840415;5857365;8986748;9124315;9435697;9478986;9587671", "class_list": "", "function": "Bidirectional transport of 2-chloroadenosine by equilibrative nucleoside transporter 4 (hENT4): Evidence for allosteric kinetics at acidic pH. Publication Status: Online-Only, [RefSeq, PubMed]; Clinically significant findings of high-risk mutations in human SLC29A4 gene associated with diabetes mellitus type 2 in Pakistani population., [RefSeq, PubMed]; ENT4, in addition to playing roles in cardiac serotonin transport, contributes to the regulation of extracellular adenosine concentrations, in particular under the acidotic conditions associated with ischemia., [RefSeq, PubMed]; Electrogenic voltage-dependent transporter that mediates the transport of a variety of endogenous bioactive amines, cationic xenobiotics and drugs (PubMed:15448143, PubMed:16099839, PubMed:16873718, PubMed:17018840, PubMed:17121826, PubMed:20592246, PubMed:20858707, PubMed:22396231, PubMed:31537831). Utilizes the physiologic inside-negative membrane potential as a driving force to facilitate cellular uptake of organic cations (PubMed:15448143, PubMed:20592246, PubMed:22396231). Functions as a Na(+)- and Cl(-)-independent bidirectional transporter (PubMed:15448143, PubMed:16099839, PubMed:22396231, PubMed:31537831). Substrate transport is pH-dependent and enhanced under acidic condition, which is most likely the result of allosteric changes in the transporter structure (PubMed:16873718, PubMed:17018840, PubMed:20592246, PubMed:22396231, PubMed:31537831). Implicated in monoamine neurotransmitters uptake such as serotonin, dopamine, adrenaline/epinephrine, noradrenaline/norepinephrine, histamine and tyramine, thereby supporting a role in homeostatic regulation of aminergic neurotransmission in the central nervous system (PubMed:15448143, PubMed:16099839, PubMed:17018840, PubMed:17121826, PubMed:20858707, PubMed:22396231). Also responsible for the uptake of bioactive amines and drugs through the blood-cerebrospinal fluid (CSF) barrier, from the CSF into choroid plexus epithelial cells, thereby playing a significant role in the clearance of cationic neurotoxins, xenobiotics and metabolic waste in the brain (By similarity). Involved in bidirectional transport of the purine nucleoside adenosine and plays a role in the regulation of extracellular adenosine concentrations in cardiac tissues, in particular during ischemia (PubMed:16873718, PubMed:20592246, PubMed:31537831). May be involved in organic cation uptake from the tubular lumen into renal tubular cells, thereby contributing to organic cation reabsorption in the kidney (PubMed:17018840). Also transports guanidine (PubMed:16099839)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; In an adjusted logistic regression model, the G allele at rs3889348 (SLC29A4) was associated with metformin gastrointestinal intolerance., [RefSeq, PubMed]; May be a novel low affinity transporter for biogenic amines, might supplement the high affinity transporters in the brain, [RefSeq, PubMed]; Our data suggest that PMAT is expressed on the apical membranes of renal epithelial cells and may use luminal proton gradient to drive organic cation reabsorption in the kidney., [RefSeq, PubMed]; PMAT can function as a polyspecific organic cation transporter, which may play a role in organic cation transport in vivo., [RefSeq, PubMed]; PMAT variant rs3889348 is associated with metformin-induced gastrointestinal among Chinese Type 2 diabetes patients., [RefSeq, PubMed]; This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. 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": 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": 17, "reported_glycation": 0, "reported_snv": 14, "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": "Q6PJ08;Q86WY8;Q8NAR3;Q8NBM2", "ec_number_list": [], "go_molecular_function": "GO:0005326 neurotransmitter transmembrane transporter activity;GO:0008324 monoatomic cation transmembrane transporter activity;GO:0022857 transmembrane transporter activity;GO:0015562 efflux transmembrane transporter activity;GO:0005337 nucleoside transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane;GO:0098793 presynapse;GO:0016020 membrane", "go_biological_process": "GO:0015844 monoamine transport;GO:0015695 organic cation transport;GO:0055085 transmembrane transport;GO:0098655 monoatomic cation transmembrane transport;GO:0015872 dopamine transport", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q7RTT9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86TS9-1", "uniprot_id": [ { "id": "RM52_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86TS9", "type": "external" } ], "mass": 13664.0, "length": 123, "protein_name": "Large ribosomal subunit protein mL52", "gene_name": "MRPL52", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL52 isoform a", "refseq_ac": [ { "id": "NP_848026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848026", "type": "external" } ], "gene_names_uniprotkb": "MRPL52", "gene_names_refseq": "MRPL52; mL52", "protein_names_uniprotkb": "Large ribosomal subunit protein mL52; 39S ribosomal protein L52, mitochondrial; L52mt; MRP-L52", "protein_names_refseq": "39S ribosomal protein L52, mitochondrial; L52mt; MRP-L52; large ribosomal subunit protein mL52 isoform a; mitochondrial large ribosomal subunit protein mL52", "tax_id": 9606, "disease": "", "pathway": " (hsa:122704); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 58, "publication_id_list": "11237011;11551941;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;23481700;24715725;25233460;25278503;25576301;25880248;27029019;27600516;27846572;28228285;28832583;28892042;29242379;29393594;29557506;29632711;30315122;31844290;31848261;32157095;32357974;32502341;32983136;33141586;33243891;33298915;33592498;33691108;33878294;33912179;33936100;33968037;33981976;34158854;34211107;34357683;34932366;35051231;35177605;35580925;36241641;36284347;36302763;36596788;37141370", "class_list": "", "function": "HIF-1-induced mitochondrial ribosome protein L52: a mechanism for breast cancer cellular adaptation and metastatic initiation in response to hypoxia. Publication Status: Online-Only, [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 which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A6NMQ8;A8MXK5;A8MYI6;G3XCN9;Q6NVH8", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q86TS9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P5S7-1", "uniprot_id": [ { "id": "RNK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P5S7", "type": "external" } ], "mass": 15420.0, "length": 137, "protein_name": "Ribonuclease kappa", "gene_name": "RNASEK", "organism": "Human", "refseq_name": "ribonuclease kappa", "refseq_ac": [ { "id": "NP_001004333", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004333", "type": "external" } ], "gene_names_uniprotkb": "RNASEK", "gene_names_refseq": "RNASEK", "protein_names_uniprotkb": "Ribonuclease kappa; 3.1.-.-; RNase K; RNase kappa; V-ATPase subunit f; V-type proton ATPase subunit f", "protein_names_refseq": "RNase kappa; V-ATPase subunit f; V-type proton ATPase subunit f; ribonuclease kappa; ribonuclease, RNase K", "tax_id": 9606, "disease": "", "pathway": " (hsa:440400); (R-HSA-9918485)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "11237011;11337487;12682107;15098107;15507651;15838506;17881363;18266465;22324914;23084921;23658209;24074594;25880248;26056282;26212330;26468529;26811146;27452731;27832191;28904123;29557506;29610346;29742433;30054827;31200028;31720911;31844290;32157095;32357974;32387766;32488085;33065002;33936100;33968037;33981976;34171305;34211107;35051231;36010968;36241641;37938771;9931503", "class_list": "", "function": "(Microbial infection) Required at an early stage of both clathrin-mediated and clathrin-independent endocytic uptake of a diverse set of viruses, including dengue, West Nile, Sindbis, Rift Valley Fever, influenza, and human rhinoviruses (PubMed:26056282, PubMed:26212330)., [UniProtKB, PubMed, PubMed]; Based on sequence alignment and substrate specificity data, as well as the resistance of the protein to the placental ribonuclease inhibitor, the human RNase kappa may be a novel endoribonuclease distinct from other known ribonucleases., [RefSeq, PubMed]; Data suggest that the Cys6-Cys69 disulfide bond is likely to exist in all RNase kappa family members, including human., [RefSeq, PubMed]; Endoribonuclease which preferentially cleaves ApU and ApG phosphodiester bonds. Hydrolyzes UpU bonds at a lower rate (PubMed:17881363). Regulates the activity of vacuolar (H+)-ATPase (V-ATPase) which is responsible for acidifying and maintaining the pH of intracellular compartments (PubMed:26212330). Required at an early stage of receptor-mediated endocytosis (PubMed:26212330)., [UniProtKB, PubMed, PubMed]; Identification of novel alternative transcripts of the human Ribonuclease kappa (RNASEK) gene using 3' RACE and high-throughput sequencing approaches., [RefSeq, PubMed]; Low Rnase K expression is associated with prostate 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": 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": "G3V1Z9;Q502Z2", "ec_number_list": [ { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "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:0004521 RNA endonuclease activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0010008 endosome membrane", "go_biological_process": "GO:0006898 receptor-mediated endocytosis;GO:0048388 endosomal lumen acidification;GO:0007042 lysosomal lumen acidification;GO:0019065 receptor-mediated endocytosis of virus by host cell;GO:0007035 vacuolar acidification", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q6P5S7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N9R8-1", "uniprot_id": [ { "id": "SCAI_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N9R8", "type": "external" } ], "mass": 70399.0, "length": 606, "protein_name": "Protein SCAI", "gene_name": "SCAI", "organism": "Human", "refseq_name": "protein SCAI isoform 2", "refseq_ac": [ { "id": "NP_001138349", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138349", "type": "external" } ], "gene_names_uniprotkb": "SCAI; C9orf126", "gene_names_refseq": "C9orf126; NET40; SCAI", "protein_names_uniprotkb": "Protein SCAI; Suppressor of cancer cell invasion protein", "protein_names_refseq": "protein SCAI isoform 2; protein SCAI; suppressor of cancer cell invasion protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:286205); (R-HSA-5663220)", "pathway_count": 2, "publication_count": 79, "publication_id_list": "10600384;10678165;10958683;11237011;12429848;12577064;12732141;12805219;15006353;15085137;15507212;15864301;15866170;15944396;16292343;16439214;16622419;16622420;16943183;17030981;17129783;17198702;1737036;18001770;18097444;18923426;19350017;19815554;20030946;20101212;20591975;21148482;21397845;21576392;21868368;22094460;22275430;22608513;22790947;23178076;23222643;23593242;23801653;24397554;24785374;24914801;25892735;26261546;26811146;27846572;28904123;29393594;29557506;31844290;32157095;32350084;32357974;32387766;32502341;33103723;33298915;33592498;33717175;33912179;33968037;33981976;34087483;34171305;34509645;34561969;34597596;35051231;35318648;35561310;36241641;36284347;37047677;37743442;9649308", "class_list": "", "function": "Bridging Gaps in HDR Improvement: The Role of MAD2L2, SCAI, and SCR7. Publication Status: Online-Only, [RefSeq, PubMed]; Downregulation of SCAI enhances glioma cell invasion and cancer stem cell like phenotype.Downregulation of SCAI activates the Wnt/beta-catenin signaling., [RefSeq, PubMed]; Genome-wide expression analysis surprisingly reveals that one of the strongest upregulated genes after suppression of SCAI is beta1-integrin, [RefSeq, PubMed]; Hsa_circ_0052611 and mir-767-5p guide the warburg effect, migration, and invasion of BRCA cells through modulating SCAI., [RefSeq, PubMed]; MiR-1228 promoted breast cancer proliferation, invasion and migration was mediated by MOAP1 and SCAI. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-371b-5p promotes cell proliferation, migration and invasion in non-small cell lung cancer via SCAI., [RefSeq, PubMed]; SCAI is a novel transcriptional cofactor that regulates epithelial-to-mesenchymal transition and renal fibrosis., [RefSeq, PubMed]; SCAI is a specific interaction partner for KMD3B. Publication Status: Online-Only, [RefSeq, PubMed]; The Protexin complex counters resection on stalled forks to promote homologous recombination and crosslink repair., [RefSeq, PubMed]; This gene encodes a regulator of cell migration. The encoded protein appears to function in the RhoA (ras homolog gene family, member A)-Dia1 (diaphanous homolog 1) signal transduction pathway. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]., [RefSeq]; Tumor suppressor which functions to suppress MRTFA-induced SRF transcriptional activity. May function in the RHOA-DIAPH1 signal transduction pathway and regulate cell migration through transcriptional regulation of ITGB1., [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": 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": "Q3SXZ1;Q3SXZ2;Q5T163;Q8N1I4", "ec_number_list": [], "go_molecular_function": "GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016020 membrane", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0030336 negative regulation of cell migration;GO:0035024 negative regulation of Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q8N9R8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2F6-1", "uniprot_id": [ { "id": "RHG20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2F6", "type": "external" } ], "mass": 132608.0, "length": 1191, "protein_name": "Rho GTPase-activating protein 20", "gene_name": "ARHGAP20", "organism": "Human", "refseq_name": "rho GTPase-activating protein 20 isoform 2", "refseq_ac": [ { "id": "NP_001245344", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245344", "type": "external" } ], "gene_names_uniprotkb": "ARHGAP20; KIAA1391", "gene_names_refseq": "ARHGAP20; RARHOGAP", "protein_names_uniprotkb": "Rho GTPase-activating protein 20; Rho-type GTPase-activating protein 20", "protein_names_refseq": "RA and RhoGAP domain containing protein; rho GTPase-activating protein 20 isoform 2; rho-type GTPase-activating protein 20", "tax_id": 9606, "disease": "", "pathway": " (hsa:57569); (R-HSA-8980692); (R-HSA-9013148); (R-HSA-9013149)", "pathway_count": 4, "publication_count": 315, "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;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;14532992;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15339924;15342493;15485661;15507211;15543602;15579468;15601624;15611138;15728722;15850391;15858067;15866170;15897194;16002401;16014623;16112081;16116428;16184169;16217026;16243036;16467373;16473593;16492808;16507994;16519628;16630611;16636067;16702231;16714282;16762923;16776779;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17562871;17583407;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18006505;18045877;18056264;18158243;18218625;18249095;18347018;18363964;18396277;18426980;18653540;18786931;18829452;18835169;18838382;18929667;19269969;19494238;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20460433;20591975;20628200;20660154;20679435;20810653;21148482;21351730;21454492;21500311;21542010;21565175;21613211;21685891;21699497;21730051;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22407364;22461490;22475431;22571869;22608513;22673745;22734669;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;25428919;25505266;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26529257;26598554;26887924;27096001;27117132;27145964;27216196;27481945;27555588;27566826;27713499;27798618;27806292;27986909;28028151;28112683;28114311;28196833;28584191;28825699;28860633;29089502;29146911;29242379;29358323;29382922;29557506;30061681;30429286;30853411;31105010;31844290;31871319;32203420;33912179;35580925;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": "GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state., [UniProtKB]; Human KIAA1391 gene and mouse Kiaa1391 gene encode RhoGAP proteins with RA domain and two ANXL repeats, [RefSeq, PubMed]; RA-RhoGAP transduces a signal from Rap1 to Rho and regulates the neurite outgrowth, [RefSeq, PubMed]; The protein encoded by this gene is an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016]., [RefSeq]; The similar expression profiles of ARHGAP20 in 13q14 and 11q22-23 deleted CLL cases suggest a molecular connection and an intriguing mechanism of regulation, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 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": "A8K8C5;B0YIW7;B0YIW8;Q6RJU1;Q6RJU2;Q6RJU3;Q6RJU5;Q8IXS1", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0035023 regulation of Rho protein signal transduction", "synthesized_glycan_count": 0, "hit_score": 31.6, "record_id": "Q9P2F6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75394-1", "uniprot_id": [ { "id": "RM33_HUMAN", "url": "https://www.uniprot.org/uniprot/O75394", "type": "external" } ], "mass": 7619.0, "length": 65, "protein_name": "Large ribosomal subunit protein bL33m", "gene_name": "MRPL33", "organism": "Human", "refseq_name": "large ribosomal subunit protein bL33m isoform a", "refseq_ac": [ { "id": "NP_004882", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004882", "type": "external" } ], "gene_names_uniprotkb": "MRPL33; C2orf1", "gene_names_refseq": "C2orf1; L33mt; MRP-L33; MRPL33; RPL33L; bL33m", "protein_names_uniprotkb": "Large ribosomal subunit protein bL33m; 39S ribosomal protein L33, mitochondrial; L33mt; MRP-L33", "protein_names_refseq": "39S ribosomal protein L33, mitochondrial; large ribosomal subunit protein bL33m isoform a; mitochondrial large ribosomal subunit protein bL33m", "tax_id": 9606, "disease": "", "pathway": " (hsa:9553); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 60, "publication_id_list": "11237011;11543634;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;22645359;24366607;25233460;25278503;25418920;25838379;26154972;26992070;27029019;27846572;27920218;28063628;28228285;28649982;28832583;28834231;28869607;28892042;29242379;29393594;29493099;29632046;30192525;30315122;30379171;30816492;30833945;31217245;31530632;31844290;31848261;32157095;32265295;32488085;32897882;33243891;33717175;33878294;33968037;34171305;34357683;35177605;36302763;36596788;37141370;40596516;9653160", "class_list": "", "function": "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. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]; Study findings underscore the biological significance of MRPL33-L and hnRNPK in the tumor formation and identifies hnRNPK as a critical splicing regulator of MRPL33 pre-mRNA in cancer cells., [RefSeq, PubMed]; Study revealed that isoforms S and L of MRPL33, which arise from alternative splicing, exhibited opposing roles in the chemoresponse to epirubicin in gastric cancer 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": 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": "Q53RZ6;Q5FVE3;Q96Q50", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "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": 6.3, "record_id": "O75394-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43567-1", "uniprot_id": [ { "id": "RNF13_HUMAN", "url": "https://www.uniprot.org/uniprot/O43567", "type": "external" } ], "mass": 42814.0, "length": 381, "protein_name": "E3 ubiquitin-protein ligase RNF13", "gene_name": "RNF13", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF13 isoform 1 precursor", "refseq_ac": [ { "id": "NP_009213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009213", "type": "external" } ], "gene_names_uniprotkb": "RNF13; RZF", "gene_names_refseq": "DEE73; EIEE73; RNF13; RZF", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF13; 2.3.2.27; RING finger protein 13", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF13 isoform 1 precursor; E3 ubiquitin-protein ligase RNF13; RING zinc finger protein; RING-type E3 ubiquitin transferase RNF13", "tax_id": 9606, "disease": "developmental and epileptic encephalopathy 73 (Disease Ontology:DOID:0112209)", "pathway": " (hsa:11342)", "pathway_count": 1, "publication_count": 73, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16166738;17897319;18794910;23378536;24190977;24366607;24387786;25502872;25576301;25645385;26154972;27090790;27452731;27726376;27846572;27862975;27920218;28467828;28514659;28649982;28657654;28832583;28855257;28904123;29242379;29314611;29393594;29485866;29557506;29632711;29769354;29789417;30315122;30429286;30573663;30595371;31154438;31844290;32157095;32162841;32350084;32357974;32387766;32488085;32938616;32983136;33043033;33298915;33392160;33592498;33912179;33936100;33968037;34185281;34357683;34433824;34465340;34831286;34932366;35051231;35154160;35251023;35254053;35561310;35580925;36241641;37668308;37938771;38665916;39031743;8610176", "class_list": "", "function": "Circular RNA circRNF13 inhibits proliferation and metastasis of nasopharyngeal carcinoma via SUMO2. Publication Status: Online-Only, [RefSeq, PubMed]; Cloning report of the chicken homolog, [RefSeq, PubMed]; E3 Ubiquitin Ligase RNF13 Suppresses TLR Lysosomal Degradation by Promoting LAMP-1 Proteasomal Degradation., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that regulates cell proliferation (PubMed:18794910, PubMed:23378536, PubMed:30595371). Involved in apoptosis regulation (PubMed:23378536, PubMed:30595371). Mediates ER stress-induced activation of JNK signaling pathway and apoptosis by promoting ERN1 activation and splicing of XBP1 mRNA (PubMed:23378536, PubMed:30595371). Also involved in protein trafficking and localization (PubMed:24387786)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive. Review article, [RefSeq, PubMed]; MiR-32-3p Regulates Myocardial Injury Induced by Microembolism and Microvascular Obstruction by Targeting RNF13 to Regulate the Stability of Atherosclerotic Plaques., [RefSeq, PubMed]; Mice lacking Mt1/2 have a rapid decrease in Rnf13 during acute lung injury, [RefSeq, PubMed]; RNF13 Dileucine Motif Variants L311S and L312P Interfere with Endosomal Localization and AP-3 Complex Association. Publication Status: Online-Only, [RefSeq, PubMed]; RNF13 is a novel E3 ubiquitin ligase involved in pancreatic carcinogenesis., [RefSeq, PubMed]; The protein encoded by this gene contains a RING zinc finger, a motif known to be involved in protein-protein interactions. The specific function of this gene has not yet been determined. Alternatively spliced transcript variants that encode the same protein have been reported. A pseudogene, which is also located on chromosome 3, has been defined 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": 3, "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": 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": 10, "reported_glycation": 0, "reported_snv": 12, "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": "A6NC87;B3KR12;Q05D66;Q6IBJ9", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity;GO:0008432 JUN kinase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005783 endoplasmic reticulum;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0046330 positive regulation of JNK cascade;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0051865 protein autoubiquitination;GO:0051640 organelle localization;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "O43567-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75830-1", "uniprot_id": [ { "id": "SPI2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75830", "type": "external" } ], "mass": 46145.0, "length": 405, "protein_name": "Serpin I2", "gene_name": "SERPINI2", "organism": "Human", "refseq_name": "serpin I2 precursor", "refseq_ac": [ { "id": "NP_006208", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006208", "type": "external" } ], "gene_names_uniprotkb": "SERPINI2; MEPI; PI14", "gene_names_refseq": "MEPI; PANCPIN; PI14; SERPINI2; TSA2004", "protein_names_uniprotkb": "Serpin I2; Myoepithelium-derived serine protease inhibitor; PI-14; Pancpin; Pancreas-specific protein TSA2004; Peptidase inhibitor 14", "protein_names_refseq": "myoepithelium-derived serine protease inhibitor; myoepithelium-derived serine proteinase inhibitor; pancreas-specific protein TSA2004; peptidase inhibitor 14; protease inhibitor 14; serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2; serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2; serpin I2 precursor; serpin I2; serpin peptidase inhibitor, clade I (pancpin), member 2", "tax_id": 9606, "disease": "familial encephalopathy with neuroserpin inclusion bodies (Disease Ontology:DOID:0050831); Shwachman-Diamond syndrome (Disease Ontology:DOID:0060479)", "pathway": " (hsa:5276)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "10097100;11237011;22110064;31844290;32387766;32938616;33592498;34270940;35051231;37217939;39894887;9624529", "class_list": "", "function": "The findings indicate that SERPINI2 is a promising candidate for further investigations of the genetic susceptibility to myopia. Publication Status: Online-Only, [RefSeq, PubMed]; The gene encodes a member of a family of proteins that acts as inhibitors of serine proteases. These proteins function in the regulation of a variety of physiological processes, including coagulation, fibrinolysis, development, malignancy, and inflammation. Expression of the encoded protein may be downregulated during pancreatic carcinogenesis. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 22, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0004867 serine-type endopeptidase inhibitor activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "O75830-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2Y4-1", "uniprot_id": [ { "id": "ZN219_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2Y4", "type": "external" } ], "mass": 76877.0, "length": 722, "protein_name": "Zinc finger protein 219", "gene_name": "ZNF219", "organism": "Human", "refseq_name": "zinc finger protein 219", "refseq_ac": [ { "id": "NP_001095142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001095142", "type": "external" } ], "gene_names_uniprotkb": "ZNF219", "gene_names_refseq": "ZFP219; ZNF219", "protein_names_uniprotkb": "Zinc finger protein 219", "protein_names_refseq": "zinc finger protein 219", "tax_id": 9606, "disease": "", "pathway": " (hsa:51222)", "pathway_count": 1, "publication_count": 31, "publication_id_list": "10819330;11237011;14621294;17081983;18452278;19549071;19664994;20940257;23186163;23481700;25418920;26154972;29242379;29557506;30429286;30620550;31154438;31217245;31492838;31844290;31848261;32157095;32502341;33298915;34167360;35051231;35132862;35705054;37356580;38253038;40307207", "class_list": "", "function": "By using a random oligonucleotide selection assay and the electromobility gel shift assay, we have revealed that the ZNF219 protein recognizes two copies of CCCCCA., [RefSeq, PubMed]; Regulates chondrocyte differentiation as a transcriptional partner of Sox9, [RefSeq, PubMed]; This gene is a member of the Kruppel-like zinc finger gene family. The encoded protein functions as a transcriptional repressor of the high mobility group nucleosome binding domain 1 protein, which is associated with transcriptionally active chromatin. [provided by RefSeq, Apr 2017]., [RefSeq]; Transcriptional regulator (PubMed:14621294, PubMed:19549071). Recognizes and binds 2 copies of the core DNA sequence motif 5'-GGGGG-3' (PubMed:14621294). Binds to the HMGN1 promoter and may repress HMGN1 expression (PubMed:14621294). Regulates SNCA expression in primary cortical neurons (PubMed:19549071). Binds to the COL2A1 promoter and activates COL2A1 expression, as part of a complex with SOX9 (By similarity). Plays a role in chondrocyte differentiation (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; ZNF219 protects human lens epithelial cells against H2O2-induced injury via targeting SOX9 through activating AKT/GSK3beta pathway., [RefSeq, PubMed]; ZNF219, a novel transcriptional repressor, inhibits transcription of the prototype foamy virus by interacting with the viral LTR promoter., [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": 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": 5, "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": 8, "binding_glycan_count": 0, "secondary_ac_list": "D3DS16;Q53Y57;Q8IYC1;Q9BW28", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity;GO:0008270 zinc ion binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0004969 histamine receptor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016020 membrane", "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:0006355 regulation of DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q9P2Y4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15020-1", "uniprot_id": [ { "id": "SART3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15020", "type": "external" } ], "mass": 109935.0, "length": 963, "protein_name": "Spliceosome associated factor 3, U4/U6 recycling protein", "gene_name": "SART3", "organism": "Human", "refseq_name": "spliceosome associated factor 3, U4/U6 recycling protein isoform 1", "refseq_ac": [ { "id": "NP_055521", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055521", "type": "external" } ], "gene_names_uniprotkb": "SART3; KIAA0156; TIP110", "gene_names_refseq": "DSAP1; P100; RP11-13G14; SART3; TIP110; p110(nrb); p110", "protein_names_uniprotkb": "Spliceosome associated factor 3, U4/U6 recycling protein; SART-3; Squamous cell carcinoma antigen recognized by T-cells 3; Tat-interacting protein of 110 kDa; Tip110; p110 nuclear RNA-binding protein", "protein_names_refseq": "HIV-1 Tat-interacting protein of 110kDa; PRP24 homolog; SART-3; hSART-3; p110 nuclear RNA-binding protein; spliceosome associated factor 3, U4/U6 recycling protein isoform 1; squamous cell carcinoma antigen recognized by T cells 3; tat-interacting protein of 110 kDa", "tax_id": 9606, "disease": "spermatogenic failure (Disease Ontology:DOID:0111910)", "pathway": " (hsa:9733)", "pathway_count": 1, "publication_count": 126, "publication_id_list": "10463607;11237011;11959860;12032085;12578909;12753654;12886526;14720331;14749385;15129427;15314151;15378520;15840095;16937115;17081983;17440952;17525332;17643375;17932509;18691976;19148489;19413330;19651622;20068231;20112406;20128819;20595234;21406692;21932426;22223895;23186163;23481700;24129315;24526689;24992895;25418920;25576301;25645385;25662406;25880248;25892735;26154972;26212219;26375851;26728094;26992070;27549314;27703488;27846572;27920218;28063628;28178396;28188670;28228285;28411811;28416261;28510447;28514659;28622427;28832583;28834231;28855257;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29790264;29938870;30315122;30410026;30479085;30833945;31217245;31373491;31492838;31844290;31848261;32119511;32157095;32236612;32347972;32350084;32357974;32387766;32488085;32502341;32504736;32897882;32938616;32967941;32983136;33141586;33214551;33298915;33437477;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34171305;34561969;34932366;35051231;35251023;35254053;35580925;35874702;36010968;36215666;36241641;36284347;37296101;38310689;38665916;38985674;40914422", "class_list": "", "function": "Regulates Tat transactivation activity through direct interaction. May be a cellular factor for HIV-1 gene expression and viral replication., [UniProtKB, PubMed]; SART3 reads methylarginine-marked glycine- and arginine-rich motifs., [RefSeq, PubMed]; The protein encoded by this gene is an RNA-binding nuclear protein that is a tumor-rejection antigen. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. This gene product is found to be an important cellular factor for HIV-1 gene expression and viral replication. It also associates transiently with U6 and U4/U6 snRNPs during the recycling phase of the spliceosome cycle. This encoded protein is thought to be involved in the regulation of mRNA splicing. [provided by RefSeq, Jul 2008]., [RefSeq]; U6 snRNP-binding protein that functions as a recycling factor of the splicing machinery. Promotes the initial reassembly of U4 and U6 snRNPs following their ejection from the spliceosome during its maturation (PubMed:12032085). Also binds U6atac snRNPs and may function as a recycling factor for U4atac/U6atac spliceosomal snRNP, an initial step in the assembly of U12-type spliceosomal complex. The U12-type spliceosomal complex plays a role in the splicing of introns with non-canonical splice sites (PubMed:14749385). May also function as a substrate-targeting factor for deubiquitinases like USP4 and USP15. Recruits USP4 to ubiquitinated PRPF3 within the U4/U5/U6 tri-snRNP complex, promoting PRPF3 deubiquitination and thereby regulating the spliceosome U4/U5/U6 tri-snRNP spliceosomal complex disassembly (PubMed:20595234). May also recruit the deubiquitinase USP15 to histone H2B and mediate histone deubiquitination, thereby regulating gene expression and/or DNA repair (PubMed:24526689). May play a role in hematopoiesis probably through transcription regulation of specific genes including MYC (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed]; USP4 regulates TUT1 ubiquitination status in concert with SART3., [RefSeq, PubMed]; Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects. Erratum:[Nat Commun. 2023 Jun 15;14(1):3566. doi: 10.1038/s41467-023-39372-x. PMID: 37322043] Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring; predictive", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K2E4;B7ZKM0;Q2M2H0;Q58F06;Q8IUS1;Q96J95", "ec_number_list": [], "go_molecular_function": "GO:0030624 U6atac snRNA binding;GO:0030621 U4 snRNA binding;GO:0003723 RNA binding;GO:0030674 protein-macromolecule adaptor activity;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0016607 nuclear speck;GO:0061574 ASAP complex", "go_biological_process": "GO:0051252 regulation of RNA metabolic process;GO:0000244 spliceosomal tri-snRNP complex assembly;GO:0006334 nucleosome assembly;GO:0010468 regulation of gene expression;GO:0000387 spliceosomal snRNP assembly", "synthesized_glycan_count": 0, "hit_score": 13.0, "record_id": "Q15020-1", "record_type": "protein", "filter_code": "0110000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BST9-1", "uniprot_id": [ { "id": "RTKN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BST9", "type": "external" } ], "mass": 62667.0, "length": 563, "protein_name": "Rhotekin", "gene_name": "RTKN", "organism": "Human", "refseq_name": "rhotekin isoform a", "refseq_ac": [ { "id": "NP_001015055", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001015055", "type": "external" } ], "gene_names_uniprotkb": "RTKN; RTKN1", "gene_names_refseq": "RTKN-1; RTKN", "protein_names_uniprotkb": "Rhotekin", "protein_names_refseq": "rhotekin isoform a", "tax_id": 9606, "disease": "hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:6242); (R-HSA-5666185); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106)", "pathway_count": 5, "publication_count": 210, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10591629;10619026;10699171;10873388;10940294;11058585;11085924;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12473120;12531887;12650940;12857875;12877655;14512443;15023524;15064355;15107133;15302923;15342493;15480428;15485661;15601624;15611138;15767687;15850391;15866170;15944288;15944396;16007136;16112081;16116428;16184169;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16979770;17077126;17198702;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18669648;18802007;18829452;19494238;19605563;19635168;19673492;19713215;20030946;20068231;20101212;20166139;20400958;20591975;20628200;20660154;21148482;21351730;21373644;21454492;21565175;21576392;21699497;21757538;21865595;21936715;22096251;22228765;22298643;22305756;22673745;22790947;22911862;22992742;23186163;23200924;23255595;23434736;23481700;23572525;23870313;24086303;24128008;24129315;24259668;24275569;24335996;24352656;24715725;24933155;25211221;25425145;25505266;25576301;25673874;25704760;26371245;26529257;26887924;27145964;27216196;27481945;27498032;27600516;27846572;27986909;28112683;28196833;28584191;28832583;29146911;29242379;29508533;29557506;29786170;29789417;30429286;31105010;31844290;31871319;32157095;32203420;32350084;32488085;32502341;32938616;32983136;33298915;33717175;33936100;33968037;34087483;34932366;35051231;35494241;35580925;36010968;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": "Let-7a microRNA inhibits tumor cell growth and metastasis by directly targeting RTKN in human colon cancer., [RefSeq, PubMed]; Mediates Rho signaling to activate NF-kappa-B and may confer increased resistance to apoptosis to cells in gastric tumorigenesis. May play a novel role in the organization of septin structures., [UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a scaffold protein that interacts with GTP-bound Rho proteins. Binding of this protein inhibits the GTPase activity of Rho proteins. This protein may interfere with the conversion of active, GTP-bound Rho to the inactive GDP-bound form by RhoGAP. Rho proteins regulate many important cellular processes, including cytokinesis, transcription, smooth muscle contraction, cell growth and transformation. Dysregulation of the Rho signal transduction pathway has been implicated in many forms of cancer. Alternative splicing results in multiple transcript variants encoding different 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "reported_glycation": 0, "reported_snv": 17, "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": "H7BXD4;Q8WVN1;Q96PT6;Q9HB05", "ec_number_list": [], "go_molecular_function": "GO:0005525 GTP binding;GO:0005095 GTPase inhibitor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005826 actomyosin contractile ring", "go_biological_process": "GO:0007165 signal transduction;GO:0006915 apoptotic process;GO:0007266 Rho protein signal transduction;GO:0042981 regulation of apoptotic process;GO:0000281 mitotic cytokinesis", "synthesized_glycan_count": 0, "hit_score": 21.1, "record_id": "Q9BST9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DPB6-1", "uniprot_id": [ { "id": "RPAC2_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DPB6", "type": "external" } ], "mass": 15237.0, "length": 133, "protein_name": "DNA-directed RNA polymerases I and III subunit RPAC2", "gene_name": "POLR1D", "organism": "Human", "refseq_name": "DNA-directed RNA polymerases I and III subunit RPAC2 isoform 1", "refseq_ac": [ { "id": "NP_057056", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057056", "type": "external" } ], "gene_names_uniprotkb": "POLR1D", "gene_names_refseq": "AC19; POLR1D; RPA16; RPA9; RPAC2; RPC16; RPO1-3; TCS2", "protein_names_uniprotkb": "DNA-directed RNA polymerases I and III subunit RPAC2; AC19; DNA-directed RNA polymerase I subunit D; RNA polymerase I 16 kDa subunit; RNA polymerases I and III subunit AC2; RPA16; RPC16; hRPA19", "protein_names_refseq": "DNA-directed RNA polymerase I subunit D; DNA-directed RNA polymerases I and III subunit RPAC2 isoform 1; DNA-directed RNA polymerases I and III subunit RPAC2; Protein POLR1D; RNA polymerase I subunit D; RNA polymerases I and III subunit AC2; polymerase (RNA) I polypeptide D, 16kDa; polymerase (RNA) I subunit D", "tax_id": 9606, "disease": "Treacher Collins syndrome 2 (Disease Ontology:DOID:0080790); leukodystrophy (Disease Ontology:DOID:10579); Treacher Collins syndrome (Disease Ontology:DOID:2908); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:51082); (R-HSA-1834949); (R-HSA-427413); (R-HSA-5250924); (R-HSA-73762); (R-HSA-73772); (R-HSA-73780); (R-HSA-73863); (R-HSA-73980); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066); (R-HSA-76071)", "pathway_count": 13, "publication_count": 103, "publication_id_list": "10082553;10421633;10471499;10913176;11056176;11118217;11237011;11250901;11419933;11463379;12381659;12391170;12393749;12446911;12646563;14610093;14969726;1547496;15558034;16514417;16603771;17318177;17355984;19158675;19158676;19158679;1946469;19609254;19631370;19838300;20068231;20413673;21131976;21398614;21559432;22223895;22805593;23251783;23388631;23555303;23667505;2404611;24901984;24952918;25892735;25916849;27418187;27418309;27600516;2805069;28510447;28514659;28832583;29242379;29508533;29557506;29769354;29786170;30315122;30833945;31530632;31844290;32157095;32488085;32938616;32983136;33298915;33335104;33558764;33558766;33674783;33717175;33912179;34087483;34671025;34675218;34887565;35051231;35561310;35580925;35637192;36271492;36284347;36581221;38844975;7491500;7568218;7597036;7801123;7891697;7995525;8035818;8308883;8407894;8423814;8955128;9003788;9171375;9234698;9312031;9418884;9582279;9660958", "class_list": "", "function": "Analyzed the kinetics of assembly and elongation of the RNA polymerase I complex on endogenous ribosomal genes in the nuclei of living cells with the use of in vivo microscopy, [RefSeq, PubMed]; Characterization of the homologous mouse protein., [RefSeq, PubMed]; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and short non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs, respectively., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Heterozygous mutations of POLR1D in 252 individuals with Treacher Collins syndrome, [RefSeq, PubMed]; POLR1D silencing suppresses lung cancer cells proliferation and migration via inhibition of PI3K-Akt pathway. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a component of the RNA polymerase I and RNA polymerase III complexes, which function in the synthesis of ribosomal RNA precursors and small RNAs, respectively. Mutations in this gene are a cause of Treacher Collins syndrome (TCS), a craniofacial development disorder. Alternative splicing results in multiple transcript variants. [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 4, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5TBX2;Q96BR3;Q9Y2S0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046983 protein dimerization activity;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005634 nucleus;GO:0005736 RNA polymerase I complex;GO:0005666 RNA polymerase III complex", "go_biological_process": "GO:0006362 transcription elongation by RNA polymerase I;GO:0006383 transcription by RNA polymerase III;GO:0006386 termination of RNA polymerase III transcription;GO:0006384 transcription initiation at RNA polymerase III promoter;GO:0006361 transcription initiation at RNA polymerase I promoter", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "P0DPB6-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TAA1-1", "uniprot_id": [ { "id": "RNS11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TAA1", "type": "external" } ], "mass": 22427.0, "length": 199, "protein_name": "Putative inactive ribonuclease 11", "gene_name": "RNASE11", "organism": "Human", "refseq_name": "putative inactive ribonuclease 11 precursor", "refseq_ac": [ { "id": "NP_660293", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660293", "type": "external" } ], "gene_names_uniprotkb": "RNASE11; C14orf6; PRO19669", "gene_names_refseq": "C14orf6; HEL-S-84p; RAJ1; RNASE11", "protein_names_uniprotkb": "Putative inactive ribonuclease 11; RNase 11", "protein_names_refseq": "epididymis secretory sperm binding protein Li 84p; probable ribonuclease 11; putative inactive ribonuclease 11 precursor; putative inactive ribonuclease 11; ribonuclease A J1; ribonuclease, RNase A family, 11 (non-active)", "tax_id": 9606, "disease": "", "pathway": " (hsa:122651)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;12975309;18491316;24715725", "class_list": "", "function": "", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0050830 defense response to Gram-positive bacterium", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8TAA1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96GC5-1", "uniprot_id": [ { "id": "RM48_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96GC5", "type": "external" } ], "mass": 23935.0, "length": 212, "protein_name": "Large ribosomal subunit protein mL48", "gene_name": "MRPL48", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL48 isoform 3", "refseq_ac": [ { "id": "NP_001305427", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305427", "type": "external" } ], "gene_names_uniprotkb": "MRPL48; CGI-118; HSPC290", "gene_names_refseq": "CGI-118; HSPC290; L48MT; MRP-L48; MRPL48; mL48", "protein_names_uniprotkb": "Large ribosomal subunit protein mL48; 39S ribosomal protein L48, mitochondrial; L48mt; MRP-L48", "protein_names_refseq": "39S ribosomal protein L48, mitochondrial; large ribosomal subunit protein mL48 isoform 3; mitochondrial large ribosomal subunit protein mL48", "tax_id": 9606, "disease": "", "pathway": " (hsa:51642); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 53, "publication_id_list": "11237011;15358359;17803939;18429816;18782833;19524667;19716793;20068231;20186120;21907147;22172991;2250005;22645359;24714562;25233460;25278503;25838379;26992070;27029019;27846572;27893789;28063628;28228285;28514659;28832583;28892042;29242379;29493099;29557506;29632046;30315122;31844290;32157095;32357974;32387766;32488085;33043033;33243891;33298915;33592498;33878294;33912179;33968037;34357683;35177605;35580925;36010968;36302763;36596788;37141370;37217939;37938771;38093387", "class_list": "", "function": "MRPL48 is a novel prognostic and predictive biomarker of hepatocellular carcinoma. Publication Status: Online-Only, [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 6p. Several transcript variants, some protein-coding and some non-protein coding, 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B4DN34;Q49AK7;Q4U2Q4;Q9P091;Q9Y5J0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005761 mitochondrial ribosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.6, "record_id": "Q96GC5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z2W9-1", "uniprot_id": [ { "id": "RM21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z2W9", "type": "external" } ], "mass": 22815.0, "length": 205, "protein_name": "Large ribosomal subunit protein bL21m", "gene_name": "MRPL21", "organism": "Human", "refseq_name": "large ribosomal subunit protein bL21m isoform d", "refseq_ac": [ { "id": "NP_852615", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_852615", "type": "external" } ], "gene_names_uniprotkb": "MRPL21", "gene_names_refseq": "L21mt; MRP-L21; MRPL21; bL21m", "protein_names_uniprotkb": "Large ribosomal subunit protein bL21m; 39S ribosomal protein L21, mitochondrial; L21mt; MRP-L21", "protein_names_refseq": "39S ribosomal protein L21, mitochondrial; large ribosomal subunit protein bL21m isoform d; mitochondrial large ribosomal subunit protein bL21m", "tax_id": 9606, "disease": "", "pathway": " (hsa:219927); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 75, "publication_id_list": "11237011;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;21993680;22172991;2250005;23481700;24715725;25233460;25278503;25418920;25838379;26154972;26406417;26811146;26929215;26992070;27029019;27600516;27846572;27920218;28063628;28218747;28228285;28832583;28834231;28892042;28904123;29242379;29393594;29437277;29557506;29632046;30315122;30429286;30779550;30833945;31154438;31844290;31848261;32157095;32161166;32265295;32387766;32938616;33141586;33243891;33298915;33691108;33878294;33936100;33968037;33981976;34087483;34171305;34357683;34561969;34932366;35051231;35177605;35318648;35580925;36010968;36302763;36596788;37141370;37938771;38181584", "class_list": "", "function": "High MRPL21 expression is associated with esophageal squamous cell carcinoma., [RefSeq, PubMed]; MRPL21 promotes HCC proliferation through TP53 mutation-induced apoptotic resistance., [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. Multiple transcript variants encoding different isoforms were identified through sequence analysis although some may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A6NKU0;C9JPR2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005737 cytoplasm;GO:0005840 ribosome", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 7.6, "record_id": "Q7Z2W9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NW08-1", "uniprot_id": [ { "id": "RPC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NW08", "type": "external" } ], "mass": 127785.0, "length": 1133, "protein_name": "DNA-directed RNA polymerase III subunit RPC2", "gene_name": "POLR3B", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase III subunit RPC2 isoform 2", "refseq_ac": [ { "id": "NP_001154180", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154180", "type": "external" } ], "gene_names_uniprotkb": "POLR3B", "gene_names_refseq": "C128; CMT1I; HLD8; INMAP; POLR3B; RPC2", "protein_names_uniprotkb": "DNA-directed RNA polymerase III subunit RPC2; 2.7.7.6; C128; DNA-directed RNA polymerase III 127.6 kDa polypeptide; DNA-directed RNA polymerase III subunit B; RNA polymerase III subunit C2", "protein_names_refseq": "DNA-directed RNA polymerase III 127.6 kDa polypeptide; DNA-directed RNA polymerase III subunit B; DNA-directed RNA polymerase III subunit RPC2 isoform 2; DNA-directed RNA polymerase III subunit RPC2; RNA polymerase III subunit C2; interphase nucleus and mitotic apparatus associated protein; polymerase (RNA) III (DNA directed) polypeptide B; polymerase (RNA) III subunit B", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy (Disease Ontology:DOID:0060786); hypomyelinating leukodystrophy 8 (Disease Ontology:DOID:0060797); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); Charcot-Marie-Tooth disease, demyelinating, IIA 1I (MONDO:MONDO:0030677)", "pathway": " (hsa:55703); (R-HSA-1834949); (R-HSA-73780); (R-HSA-73980); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066); (R-HSA-76071)", "pathway_count": 8, "publication_count": 94, "publication_id_list": "10421633;11056176;11118217;11237011;11419933;11463379;12381659;12391170;17287340;19158675;19158676;19158679;19331820;1946469;19609254;19631370;20413673;21398614;22036171;22036172;23251783;23355746;23388631;2404611;24129315;25418920;25576301;25645385;26154972;26375851;26768311;26992070;27920218;28228285;28514659;28832583;28904123;29242379;29393594;29557506;29769354;30315122;30379171;30429286;30484775;31217245;31844290;32157095;32265295;32387766;32488085;32502341;32938616;32983136;33298915;33335104;33392160;33417887;33558764;33558766;33592498;33674783;33691108;33912179;33936100;33968037;33981976;34171305;34357683;34666706;34675218;35051231;35318648;35561310;35580925;35637192;36010968;36042647;36215666;36241641;37897416;7568218;7891697;7995525;8035818;8308883;8407894;8423814;9003788;9171375;9234698;9312031;9418884;9660958", "class_list": "", "function": "A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers., [RefSeq, PubMed]; Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister., [RefSeq, PubMed]; Catalytic core component of RNA polymerase III (Pol III), a DNA-dependent RNA polymerase which synthesizes small non-coding RNAs using the four ribonucleoside triphosphates as substrates. Synthesizes 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci (PubMed:20413673, PubMed:33558766). Pol III-mediated transcription cycle proceeds through transcription initiation, transcription elongation and transcription termination stages. During transcription initiation, Pol III is recruited to DNA promoters type I, II or III with the help of general transcription factors and other specific initiation factors. 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 (PubMed:20413673, PubMed:33335104, PubMed:33558764, PubMed:33558766, PubMed:33674783, PubMed:34675218). Forms Pol III active center together with the largest subunit POLR3A/RPC1. A single-stranded DNA template strand of the promoter is positioned within the central active site cleft of Pol III. Appends one nucleotide at a time to the 3' end of the nascent RNA, with POLR3A/RPC1 contributing a Mg(2+)-coordinating DxDGD motif, and POLR3B/RPC2 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 (PubMed:19609254, PubMed:20413673, PubMed:33335104, PubMed:33558764, PubMed:33674783, PubMed:34675218). Pol III plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as a nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF-kappa-B through the RIG-I pathway., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Data describe the purification and identification of RNA polymerase III subunits RPC2 and RPC5., [RefSeq, PubMed]; Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy, [RefSeq, PubMed]; Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy, [RefSeq, PubMed]; Results suggest that INMAP is a novel protein that plays essential role in spindle formation and cell-cycle progression., [RefSeq, PubMed]; This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 26, "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": "A8K6H0;B3KV73;F5H1E6;Q9NW59", "ec_number_list": [ { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "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": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0032549 ribonucleoside binding;GO:0003899 DNA-directed RNA polymerase activity;GO:0071667 DNA/RNA hybrid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005666 RNA polymerase III complex", "go_biological_process": "GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0006383 transcription by RNA polymerase III;GO:0006386 termination of RNA polymerase III transcription;GO:0045089 positive regulation of innate immune response", "synthesized_glycan_count": 0, "hit_score": 9.7, "record_id": "Q9NW08-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H2J7-1", "uniprot_id": [ { "id": "S6A15_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H2J7", "type": "external" } ], "mass": 81836.0, "length": 730, "protein_name": "Sodium-dependent neutral amino acid transporter B(0)AT2", "gene_name": "SLC6A15", "organism": "Human", "refseq_name": "sodium-dependent neutral amino acid transporter B(0)AT2 isoform 3", "refseq_ac": [ { "id": "NP_001139807", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139807", "type": "external" } ], "gene_names_uniprotkb": "SLC6A15; B0AT2; NTT73; SBAT1", "gene_names_refseq": "NTT73; SBAT1; SLC6A15; V7-3; hv7-3", "protein_names_uniprotkb": "Sodium-dependent neutral amino acid transporter B(0)AT2; Sodium- and chloride-dependent neurotransmitter transporter NTT73; Sodium-coupled branched-chain amino-acid transporter 1; Solute carrier family 6 member 15; Transporter v7-3", "protein_names_refseq": "homolog of rat orphan transporter v7-3; orphan sodium- and chloride-dependent neurotransmitter transporter NTT73; sodium-coupled branched-chain amino-acid transporter 1; sodium-dependent neutral amino acid transporter B(0)AT2 isoform 3; sodium-dependent neutral amino acid transporter B(0)AT2; sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7; solute carrier family 6 (neurotransmitter transporter), member 15; solute carrier family 6 (neutral amino acid transporter), member 15", "tax_id": 9606, "disease": "", "pathway": " (hsa:55117); (R-HSA-352230); (R-HSA-442660)", "pathway_count": 3, "publication_count": 83, "publication_id_list": "10.1101/2023.09.13.557529;10358010;10391915;10446133;10485994;10684912;10698697;10823827;10863037;10889531;10891391;10903140;10930503;10973981;11112352;11237011;11243884;11278508;11318953;11342143;11417227;11591158;11698620;11827462;11897791;12115694;12151341;12202949;12527723;12809675;12930836;15151999;15286787;15286788;15592994;15632147;15659399;15918515;16226721;16751771;17502375;17726476;18195088;18452278;18599538;18691976;18767875;19147495;19413330;2008212;21097500;23186163;2387399;24652292;25645385;26992070;28904123;28915082;30001391;30913280;32119511;32157095;32161166;32488085;32938616;33298915;33690923;34078123;34171305;7589472;7651355;7874447;8010975;8101838;8125921;8183239;8340364;8632143;8702519;8910405;9174363;9845349;9878049", "class_list": "", "function": "Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation. Publication Status: Online-Only, [RefSeq, PubMed]; Functions as a sodium-dependent neutral amino acid transporter. Exhibits preference for the branched-chain amino acids, particularly leucine, valine and isoleucine and methionine. Can also transport low-affinity substrates such as alanine, phenylalanine, glutamine and pipecolic acid. Mediates the saturable, pH-sensitive and electrogenic cotransport of proline and sodium ions with a stoichiometry of 1:1. May have a role as transporter for neurotransmitter precursors into neurons. In contrast to other members of the neurotransmitter transporter family, does not appear to be chloride-dependent., [UniProtKB, PubMed]; SBAT1-mediated transport of BCAA, particularly leucine, may be an important source of amino nitrogen for neurotransmitter synthesis in glutamatergic and GABAergic neurons., [RefSeq, PubMed]; SLC6A15 acts as a tumor suppressor to inhibit migration and invasion in human papillary thyroid cancer., [RefSeq, PubMed]; The substrate profile of the NTT4/XT1-dependent activity is similar to that of the closely related B(0)AT2/SBAT1 (SLC6A15), including a submillimolar apparent affinity for proline and leucine and a low millimolar apparent affinity for glutamine., [RefSeq, PubMed]; This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 16185194) and may be associated with major depression (PMID: 21521612). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]., [RefSeq]; We observed an association between the SLC6A15 rs1545843 and resting-state brain function of the corpus callosum, cingulum and the frontal, parietal, and temporal lobes in MDD patients, which may be involved in the pathogenesis of Major Depressive Disorder. There was no interaction between rs1545843 genotypes and disease status., [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": 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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 37, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K592;B7Z2P7;E7ESJ5;Q9H9F5", "ec_number_list": [], "go_molecular_function": "GO:0005326 neurotransmitter transmembrane transporter activity;GO:0005298 proline:sodium symporter activity;GO:0015171 amino acid transmembrane transporter activity;GO:0005295 neutral L-amino acid:sodium symporter activity;GO:0015657 branched-chain amino acid:sodium symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0015820 L-leucine transport;GO:0015824 proline transport;GO:0006865 amino acid transport;GO:0015804 neutral amino acid transport;GO:0035725 sodium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 9.0, "record_id": "Q9H2J7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DPB3-1", "uniprot_id": [ { "id": "SCHI1_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DPB3", "type": "external" } ], "mass": 53480.0, "length": 487, "protein_name": "Schwannomin-interacting protein 1", "gene_name": "SCHIP1", "organism": "Human", "refseq_name": "schwannomin-interacting protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001184036", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001184036", "type": "external" } ], "gene_names_uniprotkb": "SCHIP1", "gene_names_refseq": "SCHIP-1; SCHIP1", "protein_names_uniprotkb": "Schwannomin-interacting protein 1; SCHIP-1", "protein_names_refseq": "schwannomin-interacting protein 1 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:29970)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10669747;11237011;11701967;17045569;23186163;25576301;25950943;27560698;28787085;29242379;35580925", "class_list": "", "function": "Chromosome 3 mapping by in situ hybridization and somatic cell hybrids, [RefSeq, PubMed]; SNPs within genes SCHIP1 and PDE8A were associated with measures of facial size in both the GWAS and replication cohorts and passed a stringent genomewide significance threshold adjusted for multiple testing of 34 correlated traits. For both SCHIP1 and PDE8A, we demonstrated clear expression in the developing mouse face by both whole-mount in situ hybridization and RNA-seq Publication Status: Online-Only, [RefSeq, PubMed]; This is the first report of a SCHIP1/IQCJ-SCHIP1 point mutation in humans associated with a neurological-developmental 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": 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": "B3KRM0;O75543;Q00P30;Q00P31;Q7Z3Y3;Q8IY83;Q9P0W3;Q9P0W4;Q9P0W5", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030054 cell junction", "go_biological_process": "GO:0035332 positive regulation of hippo signaling", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "P0DPB3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXS9-1", "uniprot_id": [ { "id": "S26A6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXS9", "type": "external" } ], "mass": 82967.0, "length": 759, "protein_name": "Solute carrier family 26 member 6", "gene_name": "SLC26A6", "organism": "Human", "refseq_name": "solute carrier family 26 member 6 isoform 4", "refseq_ac": [ { "id": "NP_001035544", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035544", "type": "external" } ], "gene_names_uniprotkb": "SLC26A6", "gene_names_refseq": "SLC26A6", "protein_names_uniprotkb": "Solute carrier family 26 member 6; Anion exchange transporter; Pendrin-L1; Pendrin-like protein 1", "protein_names_refseq": "anion exchange transporter; anion transporter 1; pendrin L1; solute carrier family 26 (anion exchanger), member 6; solute carrier family 26 member 6 isoform 4; sulfate anion transporter", "tax_id": 9606, "disease": "", "pathway": " (hsa:65010); (R-HSA-427601)", "pathway_count": 2, "publication_count": 78, "publication_id_list": "11087667;11237011;11247665;11829495;11834742;12217875;12444019;12626430;15155570;15591059;15990874;16914891;17081983;17673510;18655181;19651622;19664994;20068231;20501439;23481700;24051746;24715725;25576301;25645385;26992070;27681177;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29437277;29557506;29786170;29789417;30315122;30484775;30524438;31020640;31217245;31844290;31998317;32157095;32350084;32357974;32387766;32432926;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33912179;33968037;33981976;34171305;34185709;34326480;34357683;34458928;34509645;34591393;34932366;35051231;35318648;35580925;36010968;36215666;36241641;37938771;7683425;8896562", "class_list": "glycogene", "function": "Apical membrane anion-exchanger with wide epithelial distribution that plays a role as a component of the pH buffering system for maintaining acid-base homeostasis. Acts as a versatile DIDS-sensitive inorganic and organic anion transporter that mediates the uptake of monovalent anions like chloride, bicarbonate, formate and hydroxyl ion and divalent anions like sulfate and oxalate. Functions in multiple exchange modes involving pairs of these anions, which include chloride-bicarbonate, chloride-oxalate, oxalate-formate, oxalate-sulfate and chloride-formate exchange. Apical membrane chloride-bicarbonate exchanger that mediates luminal chloride absorption and bicarbonate secretion by the small intestinal brush border membrane and contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton-coupled peptide absorption, possibly by providing a bicarbonate import pathway. Also mediates intestinal chloride absorption and oxalate secretion, thereby preventing hyperoxaluria and calcium oxalate urolithiasis. Transepithelial oxalate secretion, chloride-formate, chloride-oxalate and chloride-bicarbonate transport activities in the duodenum are inhibited by PKC activation in a calcium-independent manner. The apical membrane chloride-bicarbonate exchanger also provides a major route for fluid and bicarbonate secretion into the proximal tubules of the kidney as well as into the proximal part of the interlobular pancreatic ductal tree, where it mediates electrogenic chloride-bicarbonate exchange with a chloride-bicarbonate stoichiometry of 1:2, and hence will dilute and alkalinize protein-rich acinar secretion. Also mediates the transcellular sulfate absorption and oxalate secretion across the apical membrane in the duodenum and the formate ion efflux at the apical brush border of cells in the proximal tubules of kidney. Plays a role in sperm capacitation by increasing intracellular pH., [UniProtKB, PubMed, UniProtKB, PubMed]; Apical membrane chloride-bicarbonate exchanger. Its association with carbonic anhydrase CA2 forms a bicarbonate transport metabolon; hence maximizes the local concentration of bicarbonate at the transporter site., [UniProtKB, PubMed]; Characterization of pendrin in urinary extracellular vesicles in a rat model of aldosterone excess and in human primary aldosteronism., [RefSeq, PubMed]; SLC26A6 and NADC1: Future direction of nephrolithiasis and calculusrelated hypertension research (Review). Review article, [RefSeq, PubMed]; TNFalpha and IL-17 alkalinize airway surface liquid through CFTR and pendrin., [RefSeq, PubMed]; This gene belongs to the solute carrier 26 family, whose members encode anion transporter proteins. This particular family member encodes a protein involved in transporting chloride, oxalate, sulfate and bicarbonate. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Aug 2013]., [RefSeq]; Up-Regulation of SLC26A6 in Hepatocellular Carcinoma and Its Diagnostic and Prognostic Significance., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_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": 5, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 889, "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": "B4DMZ1;Q548A7;Q96Q90;Q9NQU1", "ec_number_list": [], "go_molecular_function": "GO:0015499 formate transmembrane transporter activity;GO:0042802 identical protein binding;GO:0016740 transferase activity;GO:0030165 PDZ domain binding;GO:0005254 chloride channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane;GO:0030659 cytoplasmic vesicle membrane", "go_biological_process": "GO:0042045 epithelial fluid transport;GO:0015724 formate transport;GO:0015797 mannitol transmembrane transport;GO:0019532 oxalate transport;GO:0046724 oxalic acid secretion", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9BXS9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000000001.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZM9-1", "uniprot_id": [ { "id": "S38A6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZM9", "type": "external" } ], "mass": 50929.0, "length": 456, "protein_name": "Solute carrier family 38 member 6", "gene_name": "SLC38A6", "organism": "Human", "refseq_name": "solute carrier family 38 member 6 isoform 1", "refseq_ac": [ { "id": "NP_001166173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001166173", "type": "external" } ], "gene_names_uniprotkb": "SLC38A6; NAT1; SNAT6", "gene_names_refseq": "NAT-1; SLC38A6; SNAT6", "protein_names_uniprotkb": "Solute carrier family 38 member 6; Amino acid transporter SLC38A6; N-system amino acid transporter 1; NAT-1", "protein_names_refseq": "N system amino acid transporter NAT-1; N-system amino acid transporter 1; Na(+)-coupled neutral amino acid transporter 6; Sodium-coupled neutral amino acid transporter 6; amino acid transporter SLC38A6; probable sodium-coupled neutral amino acid transporter 6; solute carrier family 38 member 6 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:145389)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12845534;20068231;22299025;23186163;24752331;25576301;26992070;27846572;28973684;29557506;29769354;31844290;32157095;32387766;32983136;33043033;33537174;33633747;33968037;34171305;34185709;35051231;35580925;35901507;36010968;36675023", "class_list": "", "function": "Amino acid transporter with an apparent selectivity for L-glutamine and L-glutamate. May facilitate glutamine uptake in excitatory neurons. The transport mechanism remains to be elucidated., [UniProtKB, UniProtKB]; New Transcriptomic Biomarkers of 5-Fluorouracil Resistance. Publication Status: Online-Only, [RefSeq, PubMed]; SLC38A6 is primarily expressed in excitatory neurons and is not expressed in the astrocytes. Publication Status: Online-Only, [RefSeq, PubMed]; SLC38A6, regulated by EP300-mediated modifications of H3K27ac, promotes cell proliferation, glutamine metabolism and mitochondrial respiration in hepatocellular carcinoma., [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "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": "C9JWA6;Q86SY5", "ec_number_list": [], "go_molecular_function": "GO:0015186 L-glutamine transmembrane transporter activity;GO:0005313 L-glutamate transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse;GO:0016020 membrane", "go_biological_process": "GO:0006868 glutamine transport;GO:0003333 amino acid transmembrane transport;GO:0006865 amino acid transport", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q8IZM9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AT9-1", "uniprot_id": [ { "id": "RPE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AT9", "type": "external" } ], "mass": 24928.0, "length": 228, "protein_name": "Ribulose-phosphate 3-epimerase", "gene_name": "RPE", "organism": "Human", "refseq_name": "ribulose-phosphate 3-epimerase isoform 7", "refseq_ac": [ { "id": "NP_001305856", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305856", "type": "external" } ], "gene_names_uniprotkb": "RPE; HUSSY-17", "gene_names_refseq": "RPE2-1; RPE", "protein_names_uniprotkb": "Ribulose-phosphate 3-epimerase; 5.1.3.1; Ribulose-5-phosphate-3-epimerase", "protein_names_refseq": "ribulose-phosphate 3-epimerase isoform 7; ribulose-phosphate 3-epimerase", "tax_id": 9606, "disease": "", "pathway": " (hsa:6120); (R-HSA-71336)", "pathway_count": 2, "publication_count": 51, "publication_id_list": "10518023;10869557;11124703;11237011;11283793;14988808;17585908;17804405;18186520;18560757;18775706;20923965;22682222;24715725;25229427;25576301;2581946;26992070;27600516;28228285;28510447;28832583;28834231;29242379;29508533;29632711;29786170;30315122;30429286;30484775;31844290;31848261;32157095;32161166;32897882;32938616;33392160;33691108;33968037;33981976;34087483;34509645;35051231;36241641;38253038;3932573;3994686;7396409;8300619;9357955;9920387", "class_list": "", "function": "Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The binary complexes of RPE reported here will aid in the design of small molecules for modulating the activity of the enzyme and altering flux through the pentose phosphate pathway., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 9, "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": "A8K4S0;B4E016;C9JPQ7;O43767;Q53TV9;Q8N215;Q96N34;Q9BSB5", "ec_number_list": [ { "id": "5.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.1", "type": "external" } ], "go_molecular_function": "GO:0004750 D-ribulose-phosphate 3-epimerase activity;GO:0042802 identical protein binding;GO:0042803 protein homodimerization activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol;GO:0070062 extracellular exosome", "go_biological_process": "GO:0009052 pentose-phosphate shunt, non-oxidative branch;GO:0005975 carbohydrate metabolic process;GO:0006098 pentose-phosphate shunt", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q96AT9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NKF1-1", "uniprot_id": [ { "id": "SAC31_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NKF1", "type": "external" } ], "mass": 43553.0, "length": 404, "protein_name": "SAC3 domain-containing protein 1", "gene_name": "SAC3D1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SAC3D1; SHD1", "gene_names_refseq": "", "protein_names_uniprotkb": "SAC3 domain-containing protein 1; SAC3 homology domain-containing protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (hsa:29901)", "pathway_count": 1, "publication_count": 35, "publication_id_list": "11237011;16239144;18669648;19690332;20068231;23186163;23481700;24397554;24715725;25576301;26992070;28228285;28832583;28904123;29242379;29331515;29508533;29557506;30410026;30484775;31217245;31844290;32157095;32387766;32488085;32502341;32938616;33141586;33298915;33912179;33981976;34087483;34171305;35318648;39894887", "class_list": "", "function": "Involved in centrosome duplication and mitotic progression., [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": 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": "A8MX08;Q99773", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005813 centrosome;GO:0005819 spindle;GO:0032991 protein-containing complex", "go_biological_process": "GO:0051301 cell division;GO:0051298 centrosome duplication;GO:0051225 spindle assembly", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "A6NKF1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2W9-1", "uniprot_id": [ { "id": "STX18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2W9", "type": "external" } ], "mass": 38674.0, "length": 335, "protein_name": "Syntaxin-18", "gene_name": "STX18", "organism": "Human", "refseq_name": "syntaxin-18 isoform 2", "refseq_ac": [ { "id": "NP_001333210", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001333210", "type": "external" } ], "gene_names_uniprotkb": "STX18; GIG9", "gene_names_refseq": "STX18; Ufe1", "protein_names_uniprotkb": "Syntaxin-18; Cell growth-inhibiting gene 9 protein", "protein_names_refseq": "cell growth-inhibiting gene 9 protein; syntaxin-18 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:53407); (R-HSA-6811434)", "pathway_count": 2, "publication_count": 150, "publication_id_list": "10052452;10318838;10445031;10559959;10761932;10788491;10921873;11172815;11237011;11493604;11689559;11703931;11726511;11739780;11748249;12047556;12070132;14504276;14654841;15029241;15037235;15272311;15616190;15632110;15813748;16030262;1631136;16571679;16633337;1680566;16912714;16926190;16940185;17113389;17253781;17360540;17429068;17451557;17760859;17927562;17956946;18182008;18287528;18524849;18722709;18809720;1898986;19015319;19109418;19151722;19164740;19369418;19413330;1957170;19631211;19758564;20005805;20136777;20357002;20427317;20462495;20534429;20637885;21219331;21550981;21689688;21844168;22013193;22094269;22304919;22706990;23396477;23481700;24714562;25364732;25418920;25436559;25492864;25576301;25645385;26154972;26728094;26992070;27600516;27893789;27920218;28063628;28228285;28832583;28834231;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;32157095;32265295;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33298915;33592498;33691108;33968037;33981976;34171305;34509645;34932366;35051231;35494241;35580925;36010968;36241641;36284347;37718532;37938771;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;9114004;9177194;9244307;9288971;9405360;9751720;9990005", "class_list": "", "function": "RINT-1 coordinates the localization and function of ZW10 by serving as a link between ZW10 and the SNARE complex comprising syntaxin 18., [RefSeq, PubMed]; Stx18 in involved in growth of human breast cancer cells and may possibly be used as a prognostic marker and a molecular target in the treatment of breast cancer., [RefSeq, PubMed]; Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development., [RefSeq, PubMed]; Syntaxin that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER., [UniProtKB, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of the syntaxin family of soluble N-ethylmaleimide-sensitive factor attachment protein receptors (SNAREs) which is part of a membrane tethering complex that includes other SNAREs and several peripheral membrane proteins, and is involved in vesicular transport between the endoplasmic reticulum (ER) and the Golgi complex. The encoded protein is important for the organization of the smooth, rough, and exit site ER subdomains. A pseudogene of this gene has been identified. 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q596L3;Q5TZP5", "ec_number_list": [], "go_molecular_function": "GO:0019904 protein domain specific binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0031201 SNARE complex", "go_biological_process": "GO:1902117 positive regulation of organelle assembly;GO:0090158 endoplasmic reticulum membrane organization;GO:0006886 intracellular protein transport;GO:0006890 retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum;GO:1902953 positive regulation of ER to Golgi vesicle-mediated transport", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "Q9P2W9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VV8-1", "uniprot_id": [ { "id": "RTTN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VV8", "type": "external" } ], "mass": 248630.0, "length": 2226, "protein_name": "Rotatin", "gene_name": "RTTN", "organism": "Human", "refseq_name": "rotatin isoform 2", "refseq_ac": [ { "id": "NP_001305449", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305449", "type": "external" } ], "gene_names_uniprotkb": "RTTN", "gene_names_refseq": "MSSP; RTTN", "protein_names_uniprotkb": "Rotatin", "protein_names_refseq": "rotatin isoform 2", "tax_id": 9606, "disease": "dilated cardiomyopathy (Disease Ontology:DOID:12930); microcephalic primordial dwarfism due to RTTN deficiency (MONDO:MONDO:0018764)", "pathway": " (hsa:25914)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "11237011;11900971;14654843;17081983;19608861;22424782;22939636;23186163;23481700;24714562;24715725;25576301;25645385;26154972;26375851;26608784;26811146;26992070;27600516;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29632711;29883675;30121372;30168418;30192525;30315122;30927481;31217245;31844290;32157095;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33392160;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34171305;34207628;34509645;34932366;35051231;35138101;35254053;35494241;35580925;36010968;36215666;36241641", "class_list": "", "function": "Data show that PPP1R35 acts downstream of, and forms a complex with, RTTN, a microcephaly protein required for distal centriole elongation. Publication Status: Online-Only, [RefSeq, PubMed]; Human Microcephaly Protein RTTN Is Required for Proper Mitotic Progression and Correct Spindle Position. Publication Status: Online-Only, [RefSeq, PubMed]; Involved in the genetic cascade that governs left-right specification. Plays a role in the maintenance of a normal ciliary structure. Required for correct asymmetric expression of NODAL, LEFTY and PITX2., [UniProtKB, PubMed]; RTTN mutations cause primary microcephaly and primordial dwarfism in humans., [RefSeq, PubMed]; RTTN mutations therefore link aberrant ciliary function to abnormal development and organization of the cortex in human individuals., [RefSeq, PubMed]; Study characterizing mouse rotatin gene., [RefSeq, PubMed]; Study reports on a consanguineous family with three adult members with primary microcephaly, developmental delay, primordial dwarfism, and brachydactyly segregating a homozygous splice site variant NM_173630.3:c.5648-5T>A in RTTN. The variant RTTN allele results in a nonhypomorphic skipping of exon 42 and a frameshift [(NP_775901.3:p.Ala1883Glyfs*6)]., [RefSeq, PubMed]; This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]., [RefSeq]; We here report three individuals from two unrelated families with novel mutations in the RTTN gene. The phenotype consisted of microcephaly, short stature, pachygyria or polymicrogyria, colpocephaly, hypoplasia of the corpus callosum and superior vermis. These findings provide further confirmation of the phenotype related to pathogenic variants in RTTN., [RefSeq, PubMed]; We identified, by trio based whole exome sequencing, a homozygous missense mutation in the RTTN gene (c.2953A>G; p.(Arg985Gly)) in one Moroccan patient from a consanguineous family., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 46, "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": "Q68CS9;Q6ZRL8;Q6ZTK3;Q86TG4;Q8N8N8;Q8TBQ4;Q96IN9;Q9UFJ4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005813 centrosome;GO:0005814 centriole;GO:0036064 ciliary basal body", "go_biological_process": "GO:0010457 centriole-centriole cohesion;GO:0007099 centriole replication;GO:0032053 ciliary basal body organization;GO:0044782 cilium organization", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q86VV8-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TBB1-1", "uniprot_id": [ { "id": "RNH2B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TBB1", "type": "external" } ], "mass": 35139.0, "length": 312, "protein_name": "Ribonuclease H2 subunit B", "gene_name": "RNASEH2B", "organism": "Human", "refseq_name": "ribonuclease H2 subunit B isoform 2", "refseq_ac": [ { "id": "NP_001135751", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135751", "type": "external" } ], "gene_names_uniprotkb": "RNASEH2B; DLEU8", "gene_names_refseq": "AGS2; DLEU8; RNASEH2B", "protein_names_uniprotkb": "Ribonuclease H2 subunit B; AGS2; Aicardi-Goutieres syndrome 2 protein; Deleted in lymphocytic leukemia 8; RNase H2 subunit B; Ribonuclease HI subunit B", "protein_names_refseq": "Aicardi-Goutieres syndrome 2 protein; RNase H2 subunit B; deleted in lymphocytic leukemia 8; ribonuclease H2 subunit B isoform 2; ribonuclease HI subunit B", "tax_id": 9606, "disease": "Aicardi-Goutieres syndrome (Disease Ontology:DOID:0050629)", "pathway": " (hsa:79621)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "11237011;16845400;17846997;19608861;20131292;21177858;22223895;22645359;23186163;23481700;25576301;25645385;25802875;25810538;25880248;26154972;26992070;27846572;28218747;28228285;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29632711;30315122;30410026;30429286;30889214;31217245;31844290;31848261;31998317;32157095;32161166;32357974;32387766;32897882;32983136;33298915;33353557;33537174;33633747;33717175;33912179;33968037;34171305;34185709;34357683;34509645;34932366;35051231;35179959;35500843;35580925;36477533", "class_list": "", "function": "AGS mutations in this cluster impair the interaction of RNase H2 with several members of the CoREST chromatin-silencing complex that include the histone deacetylase HDAC2 and the demethylase KDM1A, the transcriptional regulators RCOR1 and GTFII-I as well as ZMYM3, an MYM-type zinc finger protein. Publication Status: Online-Only, [RefSeq, PubMed]; Depletion of RNASEH2 Activity Leads to Accumulation of DNA Double-strand Breaks and Reduced Cellular Survivability in T Cell Leukemia., [RefSeq, PubMed]; Germline variation of Ribonuclease H2 genes in ovarian cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; RB1 loss overrides PARP inhibitor sensitivity driven by RNASEH2B loss in prostate cancer., [RefSeq, PubMed]; RNase H2 is composed of a single catalytic subunit (A) and two non-catalytic subunits (B and C) and specifically degrades the RNA of RNA:DNA hybrids. The protein encoded by this gene is the non-catalytic B subunit of RNase H2, which is thought to play a role in DNA replication. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Aicardi-Goutieres syndrome type 2 (AGS2). [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": 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": "G3XAJ1;Q05DR2;Q6PK48;Q9HAF7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0032299 ribonuclease H2 complex;GO:0005634 nucleus", "go_biological_process": "GO:0006298 mismatch repair;GO:0006401 RNA catabolic process;GO:0006139 nucleobase-containing compound metabolic process", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q5TBB1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92540-1", "uniprot_id": [ { "id": "SMG7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92540", "type": "external" } ], "mass": 127282.0, "length": 1137, "protein_name": "Nonsense-mediated mRNA decay factor SMG7", "gene_name": "SMG7", "organism": "Human", "refseq_name": "nonsense-mediated mRNA decay factor SMG7 isoform 5", "refseq_ac": [ { "id": "NP_001167532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167532", "type": "external" } ], "gene_names_uniprotkb": "SMG7; C1orf16; EST1C; KIAA0250", "gene_names_refseq": "C1orf16; EST1C; SGA56M; SMG7", "protein_names_uniprotkb": "Nonsense-mediated mRNA decay factor SMG7; SMG-7 homolog; hSMG-7", "protein_names_refseq": "EST1 telomerase component homolog C; EST1-like protein C; breast cancer-associated antigen SGA-56M; ever shorter telomeres 1C; nonsense-mediated mRNA decay factor SMG7 isoform 5; nonsense-mediated mRNA decay factor SMG7; smg-7 homolog, nonsense mediated mRNA decay factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:9887); (R-HSA-975957)", "pathway_count": 2, "publication_count": 141, "publication_id_list": "11237011;11331269;11532962;11544179;11546874;11551508;12417715;12554878;12718880;12832468;14527413;14636577;14742663;14973490;15034551;15546618;15721257;16186820;16209946;16284618;16452507;16601204;17053788;17081983;17352659;17363904;17803942;17893241;18066079;18256688;18423202;18452278;18524595;18657639;18669648;18691976;18974281;19060897;19150429;19359157;19417104;19478851;19503078;19556969;19651622;19690332;19859661;19909264;20023408;20068231;20479275;20691628;20817927;20930030;21145460;21406692;21419344;22223895;22661428;23085078;23186163;23234702;23481700;24715725;25220460;25418920;25576301;25645385;26154972;26375851;26929215;26992070;27846572;27920218;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29237092;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;30059200;30315122;30379171;30410026;30429286;30620550;30779550;31217245;31492838;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32574038;32602581;32897882;32938616;33141586;33298915;33592498;33717175;33820915;33912179;33936100;33968037;33981976;34019948;34087483;34172724;34932366;35051231;35132862;35138101;35254053;35289036;35511739;35513511;35580925;35705054;36010968;36241641;36284347;38665916;38838015;39302247;39534244;40307207", "class_list": "", "function": "Critical role of SMG7 in activation of the ATR-CHK1 axis in response to genotoxic stress. Publication Status: Online-Only, [RefSeq, PubMed]; Data show that phosphorylated hUPF1, the human ortholog of UPF1/SMG-2, forms a complex with human orthologs of the Caenorhabditis elegans proteins SMG-5 and SMG-7., [RefSeq, PubMed]; Nonsense-mediated decay factor SMG7 sensitizes cells to TNFalpha-induced apoptosis via CYLD tumor suppressor and the noncoding oncogene Pvt1., [RefSeq, PubMed]; Plays a role in nonsense-mediated mRNA decay., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Plays a role in nonsense-mediated mRNA decay. Recruits UPF1 to cytoplasmic mRNA decay bodies. Together with SMG5 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation., [UniProtKB, PubMed, PubMed]; SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity. Publication Status: Online-Only, [RefSeq, PubMed]; SNPs at SMG7 Associated with Time from Biochemical Recurrence to Prostate Cancer Death., [RefSeq, PubMed]; This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [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": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 32, "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": "B4DRB2;E9PCI0;E9PEH2;Q5T1Q0;Q6PIE0;Q7Z7H9;Q8IXC1;Q8IXC2", "ec_number_list": [], "go_molecular_function": "GO:0042162 telomeric DNA binding;GO:0051721 protein phosphatase 2A binding;GO:0070034 telomerase RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016607 nuclear speck", "go_biological_process": "GO:0035303 regulation of dephosphorylation;GO:0006406 mRNA export from nucleus;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay", "synthesized_glycan_count": 0, "hit_score": 14.8, "record_id": "Q92540-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92565-1", "uniprot_id": [ { "id": "RPGF5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92565", "type": "external" } ], "mass": 67733.0, "length": 580, "protein_name": "Rap guanine nucleotide exchange factor 5", "gene_name": "RAPGEF5", "organism": "Human", "refseq_name": "rap guanine nucleotide exchange factor 5 isoform 2", "refseq_ac": [ { "id": "NP_001354529", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001354529", "type": "external" } ], "gene_names_uniprotkb": "RAPGEF5; GFR; KIAA0277; MRGEF", "gene_names_refseq": "GFR; MR-GEF; MRGEF; RAPGEF5; REPAC", "protein_names_uniprotkb": "Rap guanine nucleotide exchange factor 5; Guanine nucleotide exchange factor for Rap1; M-Ras-regulated Rap GEF; MR-GEF; Related to Epac; Repac", "protein_names_refseq": "M-Ras-regulated GEF; M-Ras-regulated Rap GEF; Rap guanine nucleotide exchange factor (GEF) 5; guanine nucleotide exchange factor for Rap1; rap guanine nucleotide exchange factor 5 isoform 2; related to Epac", "tax_id": 9606, "disease": "", "pathway": " (hsa:9771)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10486569;10777494;10934204;11237011;25892735;26992070;29557506;29769354;30779550;31154438;31844290;31848261;32157095;33141586;33392160;34087483;34171305;34185709;35051231;35580925;36284347;36581221;37705041;37938771;38489970;38775215", "class_list": "", "function": "Circ-RAPGEF5 promotes intrahepatic cholangiocarcinoma progression by stabilizing SAE1 to facilitate SUMOylation. Publication Status: Online-Only, [RefSeq, PubMed]; CircRAPGEF5 sponges miR-582-3p and targets KIF3A to regulate bladder cancer cell proliferation, migration and invasion., [RefSeq, PubMed]; Downregulation of circ-RAPGEF5 inhibits colorectal cancer progression by reducing the expression of polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3)., [RefSeq, PubMed]; Guanine nucleotide exchange factor (GEF) for RAP1A, RAP2A and MRAS/M-Ras-GTP. Its association with MRAS inhibits Rap1 activation., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A4D140;Q8IXU5", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:0030742 GTP-dependent protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0016604 nuclear body", "go_biological_process": "GO:0032486 Rap protein signal transduction;GO:0007399 nervous system development;GO:0007265 Ras protein signal transduction;GO:0007264 small GTPase-mediated signal transduction;GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q92565-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NV23-1", "uniprot_id": [ { "id": "SAST_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NV23", "type": "external" } ], "mass": 29931.0, "length": 265, "protein_name": "S-acyl fatty acid synthase thioesterase, medium chain", "gene_name": "OLAH", "organism": "Human", "refseq_name": "S-acyl fatty acid synthase thioesterase, medium chain isoform 2", "refseq_ac": [ { "id": "NP_001034791", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034791", "type": "external" } ], "gene_names_uniprotkb": "OLAH; THEDC1", "gene_names_refseq": "AURA1; OLAH; SAST; TE2; THEDC1", "protein_names_uniprotkb": "S-acyl fatty acid synthase thioesterase, medium chain; 3.1.2.14; AURA1; Augmented in rheumatoid arthritis 1; Oleoyl-ACP hydrolase; TE2; Thioesterase 2; Thioesterase II; Thioesterase domain-containing protein 1", "protein_names_refseq": "S-acyl fatty acid synthase thioesterase, medium chain isoform 2; S-acyl fatty acid synthase thioesterase, medium chain; augmented in rheumatoid arthritis 1; oleoyl-acyl-carrier-protein hydrolase; thioesterase 2; thioesterase II; thioesterase domain containing 1; thioesterase domain-containing protein 1; type II thioesterase", "tax_id": 9606, "disease": "", "pathway": " (hsa:55301); (R-HSA-75105)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10229681;11237011;12689621;13651131;1371749;15610069;15668256;15907797;16385451;16854592;17082220;17898086;17978863;18455495;19571038;20470824;22102020;22465940;23700546;23932781;24286864;25203508;26663084;27892461;29786170;35051231;3805044;5810867;627544;6589427;7567999;7732023;7901201;7909540;7916016;9341199", "class_list": "", "function": "Contributes to the release of free fatty acids from fatty acid synthase (FASN). Has broad substrate specificity, giving rise to a range of free fatty acids with chain lengths between 10 and 16 carbon atoms (C10 - C16)., [UniProtKB, 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": "Q5VUB6;Q9NUW1", "ec_number_list": [ { "id": "3.1.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.2", "type": "external" }, { "id": "3.1.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.27", "type": "external" }, { "id": "3.1.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.1", "type": "external" }, { "id": "3.1.2.11", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.11", "type": "external" }, { "id": "3.1.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.3", "type": "external" }, { "id": "3.1.2.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.5", "type": "external" }, { "id": "3.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.4", "type": "external" }, { "id": "3.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.1.5", "type": "external" }, { "id": "3.1.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.-", "type": "external" }, { "id": "2.3.1.16", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.16", "type": "external" }, { "id": "2.3.1.9", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.9", "type": "external" }, { "id": "1.1.1.100", "url": "https://www.rhea-db.org/rhea/?query=ec:1.1.1.100", "type": "external" }, { "id": "1.3.1.39", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.39", "type": "external" }, { "id": "2.3.1.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.38", "type": "external" }, { "id": "2.3.1.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.39", "type": "external" }, { "id": "2.3.1.41", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.41", "type": "external" }, { "id": "2.3.1.85", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.85", "type": "external" }, { "id": "3.1.2.14", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.2.14", "type": "external" }, { "id": "4.2.1.59", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.1.59", "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" } ], "go_molecular_function": "GO:0016297 fatty acyl-[ACP] hydrolase activity", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0008610 lipid biosynthetic process;GO:0051792 medium-chain fatty acid biosynthetic process;GO:0006631 fatty acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9NV23-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXA9-1", "uniprot_id": [ { "id": "SALL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXA9", "type": "external" } ], "mass": 135346.0, "length": 1300, "protein_name": "Sal-like protein 3", "gene_name": "SALL3", "organism": "Human", "refseq_name": "sal-like protein 3", "refseq_ac": [ { "id": "NP_741996", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_741996", "type": "external" } ], "gene_names_uniprotkb": "SALL3; ZNF796", "gene_names_refseq": "SALL3; ZNF796", "protein_names_uniprotkb": "Sal-like protein 3; Zinc finger protein 796; Zinc finger protein SALL3; hSALL3", "protein_names_refseq": "C2H2 zinc finger protein SALL3; epididymis secretory sperm binding protein; hSALL3; sal-like protein 3; spalt-like zinc finger protein; zinc finger protein 796", "tax_id": 9606, "disease": "carcinoma (Disease Ontology:DOID:305)", "pathway": " (hsa:27164)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10610715;11237011;16545361;16959974;19139273;19247946;19664994;21406692;23481700;24715725;25576301;28616099;28832583;29242379;29393594;29557506;31092818;31217245;31699190;31844290;31848261;32387766;32938616;33141586;34171305;34509645;35051231;36010968;36215666;38552632", "class_list": "", "function": "Hypermethylation of SALL3 in promoter regions inhibits the expression of SALL3 in cervical cancer. Infection with high-risk HPV serotypes might increase the methylation of SALL3 promoter region, silence its expression,and thus promote the development of cervical cancer., [RefSeq, PubMed]; Probable transcription factor., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Results found that SALL3 promoter methylation was associated with its transcriptional inhibition. Also, hypermethylation of CpG islands in the SALL3 promoter was independently associated with aggressive behavior of head and neck cancer (HNSCC) tumors, suggesting that SALL3 acts as a tumor suppressor gene and can serve as a prognostic biomarker in HNSCC. Publication Status: Online-Only, [RefSeq, PubMed]; SALL3 expression in human induced pluripotent stem cells (hiPSCs) correlates positively with ectoderm differentiation capacity and negatively with mesoderm/endoderm differentiation capacity. Without affecting self-renewal of hiPSCs, SALL3 knockdown inhibits ectoderm differentiation and conversely enhances mesodermal/endodermal differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; SALL3 mediates the loss of neuroectodermal differentiation potential in human embryonic stem cells with chromosome 18q loss., [RefSeq, PubMed]; Studies indicate that vertebrate sal orthologues (spalt-like/sall) have important developmental roles during neural development and organogenesis and gentic diseases. Review article, [RefSeq, PubMed]; This functional characterization of SALL3 sheds light on regulatory mechanisms for DNMT3A and provides new strategies to inhibit aberrant methylation in cancer., [RefSeq, PubMed]; This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 52, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q9UGH1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation;GO:0009966 regulation of signal transduction;GO:0035108 limb morphogenesis", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9BXA9-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q495M3-1", "uniprot_id": [ { "id": "S36A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q495M3", "type": "external" } ], "mass": 53216.0, "length": 483, "protein_name": "Proton-coupled amino acid transporter 2", "gene_name": "SLC36A2", "organism": "Human", "refseq_name": "proton-coupled amino acid transporter 2", "refseq_ac": [ { "id": "NP_861441", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861441", "type": "external" } ], "gene_names_uniprotkb": "SLC36A2; PAT2; TRAMD1", "gene_names_refseq": "PAT2; SLC36A2; TRAMD1", "protein_names_uniprotkb": "Proton-coupled amino acid transporter 2; Proton/amino acid transporter 2; Solute carrier family 36 member 2; Tramdorin-1; Transmembrane domain rich protein 1", "protein_names_refseq": "proton-coupled amino acid transporter 2; solute carrier family 36 (proton/amino acid symporter), member 2; tramdorin-1; transmembrane domain rich protein 1", "tax_id": 9606, "disease": "iminoglycinuria (Disease Ontology:DOID:0112265); hyperglycinuria (MONDO:MONDO:0007677)", "pathway": " (hsa:153201); (R-HSA-352230); (R-HSA-428559); (R-HSA-5619041)", "pathway_count": 4, "publication_count": 48, "publication_id_list": "10358010;10391915;10485994;10698697;10823827;10863037;10891391;10903140;10930503;11237011;11243884;11278508;11318953;11342143;11417227;11591158;11827462;12202949;12527723;12809675;12930836;15058382;15151999;15659399;15918515;18195088;19033659;19845895;21097500;23481700;24652292;25080478;29557506;31848261;32387766;33141586;34509645;35051231;35092815;36010968;7589472;8010975;8101838;8340364;8702519;8910405;9174363;9878049", "class_list": "", "function": "Electrogenic proton/amino acid symporter with a high selectivity for the small side chains amino acids glycine, alanine and proline, where both L- and D-enantiomers are transported. Extension of the backbone length, as in beta-alanine and 4-aminobutanoate or methylation of the amino group, as in sarcosine and N,N-dimethylglycine, are also tolerated but decrease transport efficiency. A free carboxyl group is preferred., [UniProtKB, PubMed, PubMed]; Identification of Key Biomarkers and Immune Infiltration in Sporadic Vestibular Schwannoma Basing Transcriptome-Wide Profiling., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; The amino acid transporter PAT2 and the purinergic receptor P2RX5 are cell surface markers expressed in classical brown and beige adipocytes., [RefSeq, PubMed]; This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q495M4;Q495M6;Q6ZWK5;Q7Z6B5", "ec_number_list": [], "go_molecular_function": "GO:0015180 L-alanine transmembrane transporter activity;GO:0015187 glycine transmembrane transporter activity;GO:0015193 L-proline transmembrane transporter activity;GO:0005280 amino acid:proton symporter activity;GO:0015171 amino acid transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane;GO:0055038 recycling endosome membrane;GO:0005774 vacuolar membrane", "go_biological_process": "GO:0015816 glycine transport;GO:0035524 proline transmembrane transport;GO:0006865 amino acid transport;GO:0015808 L-alanine transport;GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q495M3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6YBV0-1", "uniprot_id": [ { "id": "S36A4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6YBV0", "type": "external" } ], "mass": 56157.0, "length": 504, "protein_name": "Neutral amino acid uniporter 4", "gene_name": "SLC36A4", "organism": "Human", "refseq_name": "neutral amino acid uniporter 4 isoform 2", "refseq_ac": [ { "id": "NP_001273068", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273068", "type": "external" } ], "gene_names_uniprotkb": "SLC36A4; PAT4", "gene_names_refseq": "PAT4; SLC36A4", "protein_names_uniprotkb": "Neutral amino acid uniporter 4; Solute carrier family 36 member 4", "protein_names_refseq": "neutral amino acid uniporter 4 isoform 2; neutral amino acid uniporter 4; proton-coupled amino acid transporter 4; solute carrier family 36 (proton/amino acid symporter), member 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:120103); (R-HSA-352230); (R-HSA-71240)", "pathway_count": 3, "publication_count": 86, "publication_id_list": "10.1101/2023.09.13.557529;10049700;10358010;10391915;10485994;10672018;10698697;10823827;10863037;10891391;10903140;10930503;11237011;11243884;11278508;11318953;11342143;11417227;11591158;11827462;12007602;12140278;12202949;12527723;12809675;12930836;13069505;15151999;15364907;15659399;15880762;15918515;16376499;16477023;17671174;18056995;18195088;18262359;18620547;19338303;20498635;21097500;23478338;24190977;24652292;24715725;25892735;26154972;26434594;26811146;26992070;28083894;28218747;28228285;28514659;28904123;29393594;29437277;29632046;31844290;32350084;32357974;32387766;32897882;33298915;33691108;33912179;34357683;34405274;34509645;35051231;36215666;36241641;7514594;7589472;7883047;8010975;8101838;8294935;8340364;8666386;8702519;8910405;9174363;9180257;9878049", "class_list": "", "function": "Data predict that colorectal cancer cells with high PAT4 expression will be more resistant to depletion of serine and glutamine, allowing them to survive and outgrow neighbouring normal and tumorigenic cells., [RefSeq, PubMed]; SLC36A4 (hPAT4) is a high affinity amino acid transporter when expressed in Xenopus laevis oocytes., [RefSeq, PubMed]; SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011]., [RefSeq]; SLC36A4 has a similar in vivo growth regulatory activity to fly SLC36 family members when expressed in Drosophila and is also required for amino acid-dependent mTORC1 activation, and mTORC1-regulated proliferation in human cells., [RefSeq, PubMed]; Uniporter that mediates the transport of neutral amino acids like L-tryptophan, proline and alanine (PubMed:21097500). The transport activity is sodium ions-independent, electroneutral and therefore functions via facilitated diffusion (PubMed:21097500)., [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": 2, "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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q86X30;Q8IVM5;Q8N8S6", "ec_number_list": [], "go_molecular_function": "GO:0015180 L-alanine transmembrane transporter activity;GO:0015193 L-proline transmembrane transporter activity;GO:0015196 L-tryptophan transmembrane transporter activity;GO:0015293 symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005765 lysosomal membrane;GO:0005774 vacuolar membrane;GO:0016020 membrane", "go_biological_process": "GO:0015824 proline transport;GO:1904271 L-proline import across plasma membrane;GO:1904556 L-tryptophan transmembrane transport;GO:0015827 tryptophan transport;GO:0003333 amino acid transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "Q6YBV0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000001000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H9Y6-1", "uniprot_id": [ { "id": "RPA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H9Y6", "type": "external" } ], "mass": 128229.0, "length": 1135, "protein_name": "DNA-directed RNA polymerase I subunit RPA2", "gene_name": "POLR1B", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase I subunit RPA2 isoform 2", "refseq_ac": [ { "id": "NP_001131076", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001131076", "type": "external" } ], "gene_names_uniprotkb": "POLR1B", "gene_names_refseq": "A135; POLR1B; RPA135; RPA2; Rpo1-2; TCS4", "protein_names_uniprotkb": "DNA-directed RNA polymerase I subunit RPA2; 2.7.7.6; DNA-directed RNA polymerase I 135 kDa polypeptide; RNA polymerase I subunit 2; RPA135", "protein_names_refseq": "DNA-directed RNA polymerase I 135 kDa polypeptide; DNA-directed RNA polymerase I 135kDa polypeptide; DNA-directed RNA polymerase I subunit RPA2 isoform 2; DNA-directed RNA polymerase I subunit RPA2; RNA polymerase I subunit 2; polymerase (RNA) I polypeptide B, 128kDa; polymerase (RNA) I subunit B", "tax_id": 9606, "disease": "Treacher Collins syndrome 4 (Disease Ontology:DOID:0080792); Treacher Collins syndrome (Disease Ontology:DOID:2908)", "pathway": " (hsa:84172); (R-HSA-427413); (R-HSA-5250924); (R-HSA-73762); (R-HSA-73772); (R-HSA-73863)", "pathway_count": 6, "publication_count": 121, "publication_id_list": "10082553;10471499;10913176;11237011;11250901;11250903;11283244;12393749;12646563;14610093;14969726;1547496;15558034;16514417;16603771;16809778;16858408;17318177;17355984;18452278;19838300;20068231;21559432;22805593;23186163;23481700;23555303;23667505;24714562;24715725;24901984;24952918;25418920;25576301;25645385;25880248;25892735;25916849;26154972;26375851;26728094;26758079;26992070;27418187;27418309;27600516;27846572;27920218;2805069;28228285;28510447;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29769354;29786170;29789417;30315122;30379171;30410026;30429286;30524438;31154438;31217245;31530632;31649276;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;34211107;34405274;34509645;34561969;34671025;34887565;34932366;35051231;35508657;35561310;35580925;36010968;36215666;36241641;36271492;37167337;37938771;38253038;40596516;40914422;7491500;7597036;7801123;9582279", "class_list": "", "function": "Catalytic core component of RNA polymerase I (Pol I), a DNA-dependent RNA polymerase which synthesizes ribosomal RNA precursors using the four ribonucleoside triphosphates as substrates. Transcribes 47S pre-rRNAs from multicopy rRNA gene clusters, giving rise to 5.8S, 18S and 28S ribosomal RNAs (PubMed:11250903, PubMed:11283244, PubMed:16858408, PubMed:34671025, PubMed:34887565, PubMed:36271492). Pol I-mediated transcription cycle proceeds through transcription initiation, transcription elongation and transcription termination stages. During transcription initiation, Pol I pre-initiation complex (PIC) is recruited by the selectivity factor 1 (SL1/TIF-IB) complex bound to the core promoter that precedes an rDNA repeat unit. The PIC assembly bends the promoter favoring the formation of the transcription bubble and promoter escape. 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. Highly processive, assembles in structures referred to as 'Miller trees' where many elongating Pol I complexes queue and transcribe the same rDNA coding regions. At terminator sequences downstream of the rDNA gene, PTRF interacts with Pol I and halts Pol I transcription leading to the release of the RNA transcript and polymerase from the DNA (PubMed:11250903, PubMed:11283244, PubMed:16858408, PubMed:34671025, PubMed:34887565, PubMed:36271492). Forms Pol I active center together with the largest subunit POLR1A/RPA1. Appends one nucleotide at a time to the 3' end of the nascent RNA, with POLR1A/RPA1 contributing a Mg(2+)-coordinating DxDGD motif, and POLR1B/RPA2 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 the 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. Has proofreading activity: Pauses and backtracks to allow the cleavage of a missincorporated nucleotide via POLR1H/RPA12. High Pol I processivity is associated with decreased transcription fidelity (By similarity) (PubMed:11250903, PubMed:11283244, PubMed:16809778, PubMed:16858408, PubMed:34671025, PubMed:34887565, PubMed:36271492)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Eukaryotic RNA polymerase I (pol I) is responsible for the transcription of ribosomal RNA (rRNA) genes and production of rRNA, the primary component of ribosomes. Pol I is a multisubunit enzyme composed of 6 to 14 polypeptides, depending on the species. Most of the mass of the pol I complex derives from the 2 largest subunits, Rpa1 and Rpa2 in yeast. POLR1B is homologous to Rpa2 (Seither and Grummt, 1996 [PubMed 8921381]).[supplied by OMIM, Mar 2008]., [RefSeq]; Expression of RNA polymerase I catalytic core is influenced by RPA12. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B7Z6Y7;B7Z823;F5GZX4;F8W898;Q2TAM4;Q585T5;Q6ZRR2;Q9H9D3", "ec_number_list": [ { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" }, { "id": "5.6.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.4", "type": "external" }, { "id": "3.1.13.-", "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": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.3.1.57", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.57", "type": "external" }, { "id": "3.6.4.13", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.13", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0032549 ribonucleoside binding;GO:0003899 DNA-directed RNA polymerase activity;GO:0071667 DNA/RNA hybrid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0001650 fibrillar center;GO:0005694 chromosome;GO:0005736 RNA polymerase I complex", "go_biological_process": "GO:0014029 neural crest formation;GO:0006362 transcription elongation by RNA polymerase I;GO:0006361 transcription initiation at RNA polymerase I promoter;GO:0006363 termination of RNA polymerase I transcription;GO:0042790 nucleolar large rRNA transcription by RNA polymerase I", "synthesized_glycan_count": 0, "hit_score": 12.4, "record_id": "Q9H9Y6-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00584-1", "uniprot_id": [ { "id": "RNT2_HUMAN", "url": "https://www.uniprot.org/uniprot/O00584", "type": "external" } ], "mass": 29481.0, "length": 256, "protein_name": "Ribonuclease T2", "gene_name": "RNASET2", "organism": "Human", "refseq_name": "ribonuclease T2 precursor", "refseq_ac": [ { "id": "NP_003721", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003721", "type": "external" } ], "gene_names_uniprotkb": "RNASET2; RNASE6PL", "gene_names_refseq": "RNASE6PL; RNASET2; bA514O12.3", "protein_names_uniprotkb": "Ribonuclease T2; 4.6.1.19; Ribonuclease 6", "protein_names_refseq": "ribonuclease 6; ribonuclease T2 precursor", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); RNASET2-deficient cystic leukoencephalopathy (Disease Ontology:DOID:0081007); mismatch repair cancer syndrome (Disease Ontology:DOID:0112182); lung cancer (Disease Ontology:DOID:1324); melanoma (Disease Ontology:DOID:1909); colon adenocarcinoma (Disease Ontology:DOID:234); gastric adenocarcinoma (Disease Ontology:DOID:3717); Lynch syndrome (Disease Ontology:DOID:3883); pulmonary neuroendocrine tumor (Disease Ontology:DOID:5410)", "pathway": " (hsa:8635); (R-HSA-6798695)", "pathway_count": 2, "publication_count": 64, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11821951;15809705;16620762;19525954;21199949;22735700;23090970;23650620;24190977;24715725;25502872;26791533;26992070;27846572;27862975;28730546;28904123;29317506;29351928;29557506;29741879;30184494;30385512;30429286;31530632;31611695;31778653;31844290;31848261;32157095;32350084;32357974;32387766;32502341;32574038;32897882;32983136;33123756;33141586;33298915;33392160;33691108;33936100;34171305;34185709;34357683;34433824;34561969;35051231;35154160;35251023;35289036;36010968;36466822;36728187;37074911;37679715;38431116;38697119;41350704;8692836;9192857", "class_list": "", "function": "Diagnostic and therapeutic potential of RNASET2 in Crohn's disease: Disease-risk polymorphism modulates allelic-imbalance in expression and circulating protein levels and recombinant-RNASET2 attenuates pro-inflammatory cytokine secretion. Publication Status: Online-Only, [RefSeq, PubMed]; HIF2alpha-induced upregulation of RNASET2 promotes triglyceride synthesis and enhances cell migration in clear cell renal cell carcinoma., [RefSeq, PubMed]; Pathogenic Roles for RNASET2 in Clear Cell Renal Cell Carcinoma., [RefSeq, PubMed]; Ribonuclease that plays an essential role in innate immune response by recognizing and degrading RNAs from microbial pathogens that are subsequently sensed by TLR8. Cleaves preferentially single-stranded RNA molecules between purine and uridine residues, which critically contributes to the supply of catabolic uridine and the generation of purine-2',3'-cyclophosphate-terminated oligoribonucleotides. In turn, RNase T2 degradation products promote the RNA-dependent activation of TLR8. In plasmacytoid dendritic cells, it cooperates with PLD3 or PLD4 5'->3' exonucleases to process RNA fragments and release 2',3'-cyclic guanosine monophosphate (2',3'-cGMP), a potent stimulatory ligand for TLR7. Also plays a key role in degradation of mitochondrial RNA and processing of non-coding RNA imported from the cytosol into mitochondria. Participates as well in degradation of mitochondrion-associated cytosolic rRNAs., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Systematic analysis of RNASET2 gene as a potential prognostic and immunological biomarker in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This ribonuclease gene is a novel member of the Rh/T2/S-glycoprotein class of extracellular ribonucleases. It is a single copy gene that maps to 6q27, a region associated with human malignancies and chromosomal rearrangement. [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": 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": 2, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 24, "disease_count": 9, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RDA7;E1P5C3;Q5T8Q0;Q8TCU2;Q9BZ46;Q9BZ47", "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:0003723 RNA binding;GO:0016787 hydrolase activity;GO:0004540 RNA nuclease activity;GO:0004521 RNA endonuclease activity;GO:0033897 ribonuclease T2 activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005758 mitochondrial intermembrane space;GO:0005788 endoplasmic reticulum lumen;GO:0070062 extracellular exosome", "go_biological_process": "GO:0045087 innate immune response;GO:0006401 RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 9.3, "record_id": "O00584-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96DB5-1", "uniprot_id": [ { "id": "RMD1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96DB5", "type": "external" } ], "mass": 35808.0, "length": 314, "protein_name": "Regulator of microtubule dynamics protein 1", "gene_name": "RMDN1", "organism": "Human", "refseq_name": "regulator of microtubule dynamics protein 1 isoform 2", "refseq_ac": [ { "id": "NP_001273636", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273636", "type": "external" } ], "gene_names_uniprotkb": "RMDN1; CGI-90; FAM82B", "gene_names_refseq": "CGI-90; FAM82B; RMD-1; RMD1; RMDN1", "protein_names_uniprotkb": "Regulator of microtubule dynamics protein 1; Protein FAM82B; RMD-1; hRMD-1", "protein_names_refseq": "family with sequence similarity 82, member B; microtubule-associated protein; regulator of microtubule dynamics protein 1 isoform 2; regulator of microtubule dynamics protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51115)", "pathway_count": 1, "publication_count": 64, "publication_id_list": "11237011;18070910;20058876;20877624;21048031;23481700;24714562;25418920;25576301;25645385;25880248;25892735;26154972;26375851;26728094;26992070;27600516;27846572;27893789;27920218;28228285;28510447;28514659;28832583;28834231;29242379;29493099;29557506;29769354;29789417;30315122;30379171;30429286;30524438;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34357683;34405274;34509645;35051231;35318648;35580925;36010968;36241641;36284347;36581221;37938771;40596516", "class_list": "", "function": "Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "A9UMZ8;B4DNF5;B4DZW6;B5MC61;C9JSC6;E7EVI2;Q9Y398", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0005813 centrosome;GO:0005876 spindle microtubule;GO:0097431 mitotic spindle pole", "go_biological_process": "GO:0051315 attachment of mitotic spindle microtubules to kinetochore;GO:0007052 mitotic spindle organization", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q96DB5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQG5-1", "uniprot_id": [ { "id": "RPR1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQG5", "type": "external" } ], "mass": 36900.0, "length": 326, "protein_name": "Regulation of nuclear pre-mRNA domain-containing protein 1B", "gene_name": "RPRD1B", "organism": "Human", "refseq_name": "regulation of nuclear pre-mRNA domain-containing protein 1B", "refseq_ac": [ { "id": "NP_067038", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067038", "type": "external" } ], "gene_names_uniprotkb": "RPRD1B; C20orf77; CREPT", "gene_names_refseq": "C20orf77; CREPT; K-H; Kub5-Hera; NET60; RPRD1B; dJ1057B20.2", "protein_names_uniprotkb": "Regulation of nuclear pre-mRNA domain-containing protein 1B; Cell cycle-related and expression-elevated protein in tumor", "protein_names_refseq": "Ku70-binding protein 5-Hera; cell-cycle related and expression-elevated protein in tumor; regulation of nuclear pre-mRNA domain-containing protein 1B", "tax_id": 9606, "disease": "", "pathway": " (hsa:58490); (R-HSA-6807505)", "pathway_count": 2, "publication_count": 118, "publication_id_list": "10022900;11237011;11856838;12414730;12574128;14701755;15302935;1535687;16239144;16308568;16901896;17081983;17287340;17322306;1739980;18079403;1829677;18452278;18491316;18669648;18707149;18767875;19415658;19651622;19664995;19667075;20068231;20457598;2125285;22137580;22223895;22231121;22252320;22264791;22441827;23166507;23186163;23932780;24097444;24270878;24275569;24399136;24452636;24714562;24715725;24997600;25675981;26728094;26992070;27846572;27862975;27920218;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29331515;2944599;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30429286;30518842;30779550;30833945;31154438;31530632;31844290;31848261;32157095;32387766;32488085;32502341;32897882;32938616;32983136;33214551;33298915;33531691;33592498;33633747;33717175;33838964;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34509645;34561969;34932366;35051231;35318648;35580925;36010968;36171622;37217939;40914422;7715707;8253082;8339931;8628262;8668525;9009278;9153304;9188510;9407024;9705341;9832505", "class_list": "", "function": "CREPT increases cyclin D1 transcription during tumorigenesis., [RefSeq, PubMed]; CREPT/RPRD1B promotes tumorigenesis through STAT3-driven gene transcription in a p300-dependent manner., [RefSeq, PubMed]; Immunohistochemical expression levels of cyclin D1 and CREPT reflect the course and prognosis in oral precancerous lesions and squamous cell carcinoma., [RefSeq, PubMed]; Interacts with phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit POLR2A, and participates in dephosphorylation of the CTD by RPAP2. Transcriptional regulator which enhances expression of CCND1. Promotes binding of RNA polymerase II to the CCDN1 promoter and to the termination region before the poly-A site but decreases its binding after the poly-A site. Prevents RNA polymerase II from reading through the 3' end termination site and may allow it to be recruited back to the promoter through promotion of the formation of a chromatin loop. Also enhances the transcription of a number of other cell cycle-related genes including CDK2, CDK4, CDK6 and cyclin-E but not CDKN1A, CDKN1B or cyclin-A. Promotes cell proliferation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Long non-coding RNA NEAT1 mediated RPRD1B stability facilitates fatty acid metabolism and lymph node metastasis via c-Jun/c-Fos/SREBP1 axis in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; RPRD1B overexpression promotes tumor growth and accelerates cell cycle 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": 14, "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": "Q1WDE7;Q6PKF4", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0000993 RNA polymerase II complex binding;GO:0099122 RNA polymerase II C-terminal domain binding;GO:0008420 RNA polymerase II CTD heptapeptide repeat phosphatase activity", "go_cellular_component": "GO:0097550 transcription preinitiation complex;GO:0005634 nucleus;GO:0005654 nucleoplasm", "go_biological_process": "GO:0008284 positive regulation of cell population proliferation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0010564 regulation of cell cycle process;GO:0001111 RNA polymerase II promoter clearance;GO:0031124 mRNA 3'-end processing", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "Q9NQG5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BY07-1", "uniprot_id": [ { "id": "S4A5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BY07", "type": "external" } ], "mass": 126255.0, "length": 1137, "protein_name": "Electrogenic sodium bicarbonate cotransporter 4", "gene_name": "SLC4A5", "organism": "Human", "refseq_name": "electrogenic sodium bicarbonate cotransporter 4 isoform a", "refseq_ac": [ { "id": "NP_067019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067019", "type": "external" } ], "gene_names_uniprotkb": "SLC4A5; NBC4", "gene_names_refseq": "NBC4; NBCe2; SLC4A5", "protein_names_uniprotkb": "Electrogenic sodium bicarbonate cotransporter 4; NBCe2; Solute carrier family 4 member 5", "protein_names_refseq": "electrogenic sodium bicarbonate cotransporter 4 isoform a; electrogenic sodium bicarbonate cotransporter 4; solute carrier family 4 (sodium bicarbonate cotransporter), member 5", "tax_id": 9606, "disease": "anemia (Disease Ontology:DOID:2355)", "pathway": " (hsa:57835); (R-HSA-425381)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10347222;10362779;10545938;10978526;11087115;11237011;11305939;11788353;11997242;12063394;12388414;17715183;18319254;22987918;24472682;25645385;2594752;26136555;26447209;29557506;29642240;29671580;29786170;3015590;30315122;31324691;31844290;32350084;32387766;33141586;33392160;35051231;36215666;7506871;7530501;7923606;8206915;9235899;9312167;9651366", "class_list": "", "function": "Data indicate that 2 SNPs in SLC4A5 (rs7571842 and rs10177833) showed highly significant results and large effects sizes., [RefSeq, PubMed]; Mediates sodium- and bicarbonate-dependent electrogenic sodium bicarbonate cotransport, with a Na(+):HCO3(-) stoichiometry varying from 1:2 to 1:3., [UniProtKB, PubMed]; NBCe2 activity is stimulated by an increase in intracellular sodium and is hyper-responsive in hRPTCs carrying HV SLC4A5 rs7571842 through an aberrant HNF4A-mediated mechanism Publication Status: Online-Only, [RefSeq, PubMed]; NBCe2 could be important in proximal kidney tubule apical sodium and bicarbonate cotransport under high-salt conditions., [RefSeq, PubMed]; This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. 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]; We summarize the potential function of NBCe2 in the regulation of blood pressure, acid-base, and K(+) and Ca(2+) transport in the distal nephron--{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": 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": 14, "reported_interactions": 0, "missing_score": 9015, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q32MA7;Q59EQ9;Q8WXD3;Q8WXD7;Q96DS7;Q96DS8;Q9HBU5", "ec_number_list": [], "go_molecular_function": "GO:0008509 monoatomic anion transmembrane transporter activity;GO:0005452 solute:inorganic anion antiporter activity;GO:0008510 sodium:bicarbonate symporter activity;GO:0015106 bicarbonate transmembrane transporter activity;GO:0015370 solute:sodium symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0055085 transmembrane transport;GO:0003014 renal system process;GO:0015701 bicarbonate transport;GO:0051453 regulation of intracellular pH;GO:0006820 monoatomic anion transport", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9BY07-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DME0-2", "uniprot_id": [ { "id": "SETLP_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DME0", "type": "external" } ], "mass": 33645.0, "length": 292, "protein_name": "Protein SETSIP", "gene_name": "SETSIP", "organism": "Human", "refseq_name": "protein SETSIP", "refseq_ac": [ { "id": "NP_001274666", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001274666", "type": "external" } ], "gene_names_uniprotkb": "SETSIP; SETP18", "gene_names_refseq": "SETP18; SETSIP", "protein_names_uniprotkb": "Protein SETSIP; SET pseudogene protein 18; SET similar protein; Similar to SET translocation protein", "protein_names_refseq": "SET nuclear oncogene pseudogene; SET pseudogene 18; SET pseudogene protein 18; SET similar protein; protein SETSIP", "tax_id": 9606, "disease": "", "pathway": " (hsa:646817)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "22869753;25645385;26728094;28218747;29508533;30833945", "class_list": "", "function": "Plays a role as a transcriptional activator involved in the early stage of somatic cell reprogramming. Promotes the differentiation of protein-induced pluripotent stem (PiPS) cells into endothelial cells and the formation of vascular-like tubes (in vitro). Involved in the transcription induction of vascular endothelial-cadherin (VE-cadherin) expression. Associates to the VE-cadherin gene 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:0003682 chromatin binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005811 lipid droplet;GO:0000785 chromatin", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006334 nucleosome assembly;GO:0045446 endothelial cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P0DME0-2", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZMJ2-1", "uniprot_id": [ { "id": "SCAR5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZMJ2", "type": "external" } ], "mass": 53994.0, "length": 495, "protein_name": "Scavenger receptor class A member 5", "gene_name": "SCARA5", "organism": "Human", "refseq_name": "scavenger receptor class A member 5 isoform 1", "refseq_ac": [ { "id": "NP_776194", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_776194", "type": "external" } ], "gene_names_uniprotkb": "SCARA5; PRO28700", "gene_names_refseq": "NET33; SCARA5; Tesr", "protein_names_uniprotkb": "Scavenger receptor class A member 5; Scavenger receptor hlg", "protein_names_refseq": "scavenger receptor class A member 5 isoform 1; scavenger receptor class A, member 5 (putative); scavenger receptor hlg; testis expressed scavenger receptor", "tax_id": 9606, "disease": "", "pathway": " (hsa:286133); (R-HSA-3000480)", "pathway_count": 2, "publication_count": 65, "publication_id_list": "10.1101/2023.09.13.557529;10224290;10651831;10686426;10722588;11564734;11820786;12488451;12761161;12763022;12847263;12975309;1339697;14609958;16237101;16525990;16882874;16926412;16984918;17179669;17332894;17709607;1852209;19073604;19227971;19911804;20360967;20810988;20849212;20888598;20956340;21029358;21782039;21858178;2251254;22570530;2318890;23197261;25576301;27600516;28904123;29393594;29557506;30429286;31848261;32983136;3467373;35051231;36513999;37074911;37315873;37337726;37554122;6088540;6255257;7607209;8127896;8429030;8751442;8784195;9225214;9465098;9468508;9511720;9548586", "class_list": "", "function": "Data show that decidualization was associated with increased expression of 428 genes including SCARA5 (181-fold), DKK1 (71-fold) and PROK1 (32-fold), and decreased expression of 230 genes including MMP-7 (35-fold) and SFRP4 (21-fold)., [RefSeq, PubMed]; Ferritin receptor that mediates non-transferrin-dependent delivery of iron. Mediates cellular uptake of ferritin-bound iron by stimulating ferritin endocytosis from the cell surface with consequent iron delivery within the cell. Delivery of iron to cells by ferritin is required for the development of specific cell types, suggesting the existence of cell type-specific mechanisms of iron traffic in organogenesis, which alternatively utilize transferrin or non-transferrin iron delivery pathways. Ferritin mediates iron uptake in capsule cells of the developing kidney. Preferentially binds ferritin light chain (FTL) compared to heavy chain (FTH1)., [UniProtKB, HAMAP]; M[6]A-mediated upregulation of lncRNA RMRP boosts the progression of bladder cancer via epigenetically suppressing SCARA5., [RefSeq, PubMed]; Methylated tumor suppressor gene SCARA5 inhibits the proliferation, migration and invasion of nasopharyngeal carcinoma., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SCARA5 as a downstream factor of PCAT29, inhibits proliferation, migration, and invasion of bladder cancer., [RefSeq, PubMed]; SCARA5 induced ferroptosis to effect ESCC proliferation and metastasis by combining with Ferritin light chain. 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": 3, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 4, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 4, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 28, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "Q6UXZ1;Q7Z4A1;Q8N4Z7", "ec_number_list": [], "go_molecular_function": "GO:0070287 ferritin receptor activity;GO:0005044 scavenger receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0034755 iron ion transmembrane transport;GO:0006897 endocytosis;GO:0006879 intracellular iron ion homeostasis;GO:0070207 protein homotrimerization", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q6ZMJ2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UPR3-1", "uniprot_id": [ { "id": "SMG5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UPR3", "type": "external" } ], "mass": 113928.0, "length": 1016, "protein_name": "Nonsense-mediated mRNA decay factor SMG5", "gene_name": "SMG5", "organism": "Human", "refseq_name": "nonsense-mediated mRNA decay factor SMG5 isoform 1", "refseq_ac": [ { "id": "NP_056142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056142", "type": "external" } ], "gene_names_uniprotkb": "SMG5; EST1B; KIAA1089", "gene_names_refseq": "EST1B; LPTS-RP1; LPTSRP1; SMG-5; SMG5", "protein_names_uniprotkb": "Nonsense-mediated mRNA decay factor SMG5; EST1-like protein B; LPTS-RP1; LPTS-interacting protein; SMG-5 homolog; hSMG-5", "protein_names_refseq": "EST1 telomerase component homolog B; EST1-like protein B; Est1p-like protein B; LPTS interacting protein; ever shorter telomeres 1B; nonsense-mediated mRNA decay factor SMG5 isoform 1; nonsense-mediated mRNA decay factor SMG5; protein SMG5; smg-5 homolog, nonsense mediated mRNA decay factor", "tax_id": 9606, "disease": "", "pathway": " (hsa:23381); (R-HSA-975957)", "pathway_count": 2, "publication_count": 103, "publication_id_list": "10.1101/2023.09.13.557529;11331269;11532962;11544179;11546874;11551508;12417715;12554878;12699629;12718880;12832468;14527413;14636577;14742663;14973490;15034551;15546618;15721257;16186820;16209946;16284618;16452507;16601204;17053788;17352659;17363904;17803942;17893241;18066079;18256688;18423202;18524595;18657639;18974281;19060897;19150429;19359157;19417104;19478851;19503078;19556969;19859661;19909264;20023408;20479275;20691628;20817927;20930030;21145460;21419344;22706990;23085078;23186163;23234702;23481700;24715725;25576301;25880248;26992070;27473591;27600516;27920218;28063628;28228285;28832583;28834231;28904123;29242379;29348139;29393594;29557506;29632046;29786170;29789417;30315122;30429286;31154438;31844290;31848261;32157095;32265295;32357974;32387766;32502341;32897882;32938616;33298915;33537174;33717175;33912179;33968037;33981976;34171305;34172724;34357683;34405274;34509645;35051231;35580925;36010968;36241641;37699361;37936239", "class_list": "", "function": "Data show that phosphorylated hUPF1, the human ortholog of UPF1/SMG-2, forms a complex with human orthologs of the Caenorhabditis elegans proteins SMG-5 and SMG-7., [RefSeq, PubMed]; Overexpression of TMEM79 combined with SMG5 is related to prognosis, tumor immune infiltration and drug sensitivity in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Pan-Cancer Analysis of the Prognostic and Immunological Role of SMG5: A Biomarker for Cancers., [RefSeq, PubMed]; Plays a role in nonsense-mediated mRNA decay. Does not have RNase activity by itself. Promotes dephosphorylation of UPF1. Together with SMG7 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation. Necessary for TERT activity., [UniProtKB, PubMed]; SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]., [RefSeq]; SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity. Publication Status: Online-Only, [RefSeq, PubMed]; The authors found no evidence for the existence of a physical or functional interaction between SMG5 and PNRC2., [RefSeq, PubMed]; This study highlights that miR-433 represses nonsense mediated mRNA decay. The miR-433 targets 3'-UTR of SMG5 and represses the expression of SMG5, whereas nonsense-mediated mRNA decay activity is decreased when SMG5 is decreased. 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": 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": 1, "reported_glycation": 0, "reported_snv": 23, "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": "D3DVB7;Q5QJE7;Q659C7;Q8IXC0;Q8IY09;Q96IJ7", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding;GO:0042826 histone deacetylase binding;GO:0042162 telomeric DNA binding;GO:0051721 protein phosphatase 2A binding;GO:0070034 telomerase RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0036464 cytoplasmic ribonucleoprotein granule;GO:0005697 telomerase holoenzyme complex", "go_biological_process": "GO:0032204 regulation of telomere maintenance;GO:0035303 regulation of dephosphorylation;GO:0006406 mRNA export from nucleus;GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;GO:0032210 regulation of telomere maintenance via telomerase", "synthesized_glycan_count": 0, "hit_score": 10.6, "record_id": "Q9UPR3-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZT4-1", "uniprot_id": [ { "id": "SRR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZT4", "type": "external" } ], "mass": 36566.0, "length": 340, "protein_name": "Serine racemase", "gene_name": "SRR", "organism": "Human", "refseq_name": "serine racemase isoform a", "refseq_ac": [ { "id": "NP_068766", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068766", "type": "external" } ], "gene_names_uniprotkb": "SRR", "gene_names_refseq": "ILV1; ISO1; SRR", "protein_names_uniprotkb": "Serine racemase; 4.3.1.17; 4.3.1.18; 5.1.1.18; D-serine ammonia-lyase; D-serine dehydratase; L-serine ammonia-lyase; L-serine dehydratase", "protein_names_refseq": "D-serine ammonia-lyase; D-serine dehydratase; L-serine ammonia-lyase; L-serine dehydratase; serine racemase isoform a", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:63826); (R-HSA-977347)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "11054547;11237011;12393813;12633500;15193426;15219883;15536068;16120614;16580895;17880399;18342636;19235232;20106978;23391306;24138986;25892735;26416733;26703715;29277459;29769354;31154438;31844290;32039887;32157095;32350084;32971286;33249721;34087483;35046895;35051231;35410329;37523600;9188776", "class_list": "", "function": "Catalyzes the synthesis of D-serine from L-serine. D-serine is a key coagonist with glutamate at NMDA receptors. Has dehydratase activity towards both L-serine and D-serine., [UniProtKB, UniProtKB]; D-serine is synthesized in human placenta by the racemization of L-serine by serine racemase., [RefSeq, PubMed]; Data report on the isolation of a cDNA encoding a human serine racemase (SRR) from a human neuronal like cell line., [RefSeq, PubMed]; Human serine racemase is inhibited by glyceraldehyde 3-phosphate, but not by glyceraldehyde 3-phosphate dehydrogenase., [RefSeq, PubMed]; Pyridoxal-5'-phosphate (PLP)-dependent enzyme that catalyzes the synthesis of D-serine from L-serine (PubMed:20106978, PubMed:23391306, PubMed:29277459). D-serine is a key coagonist with glutamate at NMDA receptors. In addition to racemization, has dehydratase activity towards both L-serine and D-serine, a two-step reaction in which the hydroxyl group of serine is eliminated to produce aminoacrylate (2-aminoprop-2-enoate), and then the aminoacrylate (an unstable intermediate) is deaminated by nonenzymatic hydrolysis to produce pyruvate (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; QPCR Analysis Reveals Association of Differential Expression of SRR, NFKB1, and PDE4B Genes With Type 2 Diabetes Mellitus. Publication Status: Online-Only, [RefSeq, PubMed]; The Prognostic Role of Serine Racemase in Patients With Pancreatic Cancer: A New Marker in Cancer Metabolism., [RefSeq, PubMed]; The allosteric interplay between S-nitrosylation and glycine binding controls the activity of human serine racemase., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "D3DTI5;Q6IA55", "ec_number_list": [ { "id": "4.3.1.17", "url": "https://www.rhea-db.org/rhea/?query=ec:4.3.1.17", "type": "external" }, { "id": "4.3.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:4.3.1.19", "type": "external" }, { "id": "5.1.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.1.3", "type": "external" }, { "id": "4.3.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:4.3.1.18", "type": "external" }, { "id": "5.1.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.1.18", "type": "external" } ], "go_molecular_function": "GO:0008721 D-serine ammonia-lyase activity;GO:0018114 threonine racemase activity;GO:0030378 serine racemase activity;GO:0000287 magnesium ion binding;GO:0005524 ATP binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0043025 neuronal cell body;GO:0045177 apical part of cell", "go_biological_process": "GO:0042866 pyruvate biosynthetic process;GO:1901986 response to ketamine;GO:0070179 D-serine biosynthetic process;GO:0070178 D-serine metabolic process;GO:0032496 response to lipopolysaccharide", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9GZT4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2J5-1", "uniprot_id": [ { "id": "SYLC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2J5", "type": "external" } ], "mass": 134466.0, "length": 1176, "protein_name": "Leucine--tRNA ligase, cytoplasmic", "gene_name": "LARS1", "organism": "Human", "refseq_name": "leucine--tRNA ligase, cytoplasmic isoform 3", "refseq_ac": [ { "id": "NP_001304893", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304893", "type": "external" } ], "gene_names_uniprotkb": "LARS1; KIAA1352; LARS", "gene_names_refseq": "HSPC192; ILFS1; LARS1; LARS; LEURS; LEUS; LFIS; LRS; PIG44; RNTLS; cLRS; hr025Cl", "protein_names_uniprotkb": "Leucine--tRNA ligase, cytoplasmic; 6.1.1.4; LeuRS; Leucyl-tRNA synthetase; cLRS", "protein_names_refseq": "cytoplasmic leucyl-tRNA synthetase; cytosolic leucyl-tRNA synthetase; leucine tRNA ligase 1, cytoplasmic; leucine translase; leucine--tRNA ligase, cytoplasmic isoform 3; proliferation-inducing gene 44", "tax_id": 9606, "disease": "infantile liver failure syndrome (Disease Ontology:DOID:0080716); infantile liver failure syndrome 1 (Disease Ontology:DOID:0080717)", "pathway": " (hsa:51520); (R-HSA-2408522); (R-HSA-379716); (R-HSA-9856649)", "pathway_count": 4, "publication_count": 193, "publication_id_list": "10567402;10611221;10655586;10673502;11027551;11237011;11347887;11714285;11829477;11840323;11858721;11891324;11912130;11930005;12042320;12690580;1373391;14660560;14671330;14975237;15104674;15118077;15226305;15507434;16014379;16034366;16055448;16408927;16429158;16661668;16661782;16822840;16906134;1698554;1748288;1761529;17623675;17924679;18644867;18991276;19426743;19524539;19608861;20460180;21486943;21965087;22424782;22607940;22647378;23159739;23186163;23190890;23207919;23301498;23481700;24714562;24715725;25051973;25248477;25367160;25418920;25469497;25576301;25595898;25645385;25892735;26154972;26375851;26768311;26811146;26992070;27128622;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28394346;28510447;28649982;28832583;28834231;28904123;29242379;29295999;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30429286;30524438;30804224;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31998317;32119511;32157095;32161166;32232361;32265295;32350084;32357974;32387766;32488085;32502341;32636443;32870666;32897882;32938616;32983136;33141586;33298915;33314043;33392160;33465208;33592498;33691108;33717175;33744299;33912179;33936100;33968037;33981976;34019948;34087483;34140478;34171305;34211107;34325132;34357683;34405274;34509645;34561969;34725712;34932366;35051231;35138101;35251023;35318648;35561310;35580925;35614056;35962451;36010968;36215666;36241641;36284347;36581221;37217939;37770430;37938771;38665916;40914422;4130389;5338216;6022858;656444;7118399;7654687;7958932;8052601;8078941;8188258;8336698;8428657;8449960;9199364;9278442;9353119;9421509;9431993;9440696;9560246;9676189;9760192;9973413", "class_list": "", "function": "Aminoacyl-tRNA synthetase that catalyzes the specific attachment of leucine to its cognate tRNA (tRNA(Leu)) (PubMed:25051973, PubMed:32232361). It performs tRNA aminoacylation in a two-step reaction: Leu is initially activated by ATP to form a leucyl-adenylate (Leu-AMP) intermediate; then the leucyl moiety is transferred to the acceptor 3' end of the tRNA to yield leucyl-tRNA (PubMed:25051973). To improve the fidelity of catalytic reactions, it is also able to hydrolyze misactivated aminoacyl-adenylate intermediates (pre-transfer editing) and mischarged aminoacyl-tRNAs (post-transfer editing) (PubMed:25051973)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Identification of LARS as an essential gene for osteosarcoma proliferation through large-Scale CRISPR-Cas9 screening database and experimental verification. Publication Status: Online-Only, [RefSeq, PubMed]; Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization., [RefSeq, PubMed]; Leucyl-tRNA synthetase 1 is required for proliferation of TSC-null cells., [RefSeq, PubMed]; O-GlcNAc modification of leucyl-tRNA synthetase 1 integrates leucine and glucose availability to regulate mTORC1 and the metabolic fate of leucine. Erratum:[Nat Commun. 2022 Oct 21;13(1):6253. doi: 10.1038/s41467-022-34146-3. PMID: 36271081] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. A mutation in this gene was found in affected individuals with infantile liver failure syndrome 1. Alternatively spliced transcript variants of this gene have been observed. [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": 7, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 7, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 7, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 16, "reported_glycation": 0, "reported_snv": 24, "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": "A2RRR4;A7E266;B4DJ10;Q2TU79;Q9NSE1", "ec_number_list": [ { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "6.1.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.12", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "6.1.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.18", "type": "external" }, { "id": "6.1.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.19", "type": "external" }, { "id": "6.1.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.10", "type": "external" }, { "id": "6.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.4", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "6.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.6", "type": "external" } ], "go_molecular_function": "GO:0002161 aminoacyl-tRNA deacylase activity;GO:0004823 leucine-tRNA ligase activity;GO:0005096 GTPase activator activity;GO:0005524 ATP binding;GO:0004819 glutamine-tRNA ligase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005764 lysosome;GO:0012505 endomembrane system", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0006429 leucyl-tRNA aminoacylation;GO:0006418 tRNA aminoacylation for protein translation;GO:0034198 cellular response to amino acid starvation;GO:0071230 cellular response to amino acid stimulus", "synthesized_glycan_count": 0, "hit_score": 20.2, "record_id": "Q9P2J5-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96AA3-1", "uniprot_id": [ { "id": "RFT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96AA3", "type": "external" } ], "mass": 60335.0, "length": 541, "protein_name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "gene_name": "RFT1", "organism": "Human", "refseq_name": "man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1", "refseq_ac": [ { "id": "NP_443091", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443091", "type": "external" } ], "gene_names_uniprotkb": "RFT1", "gene_names_refseq": "CDG1N; RFT1; SLC76A1", "protein_names_uniprotkb": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1; Protein RFT1 homolog", "protein_names_refseq": "RFT1, requiring fifty three 1 homolog; congenital disorder of glycosylation 1N; man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1; protein RFT1 homolog; putative endoplasmic reticulum multispan transmembrane protein", "tax_id": 9606, "disease": "congenital disorder of glycosylation type I (Disease Ontology:DOID:0050570); congenital disorder of glycosylation In (Disease Ontology:DOID:0080566); cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:91869); (R-HSA-446193); (R-HSA-4570571)", "pathway_count": 3, "publication_count": 69, "publication_id_list": "10.1101/2023.09.13.557529;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;19701946;19856127;22742743;23111317;24366607;24715725;26992070;27846572;27920218;28467828;28514659;28832583;28904123;29242379;29557506;29769354;30071302;30429286;30524438;31844290;32157095;32357974;32387766;32897882;32938616;33141586;33298915;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34357683;34509645;35051231;36010968;36284347;38665916;39025454;9451016;9597543", "class_list": "glycogene", "function": "A novel RFT1 missense mutation was identified in a family with history of neonatal deaths due to severe respiratory insufficiency., [RefSeq, PubMed]; Intramembrane glycolipid transporter that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. 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. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. RFT1 could mediate the translocation of the cytosolically oriented intermediate DolPP-GlcNAc2Man5, produced by ALG11, into the ER lumen where dolichol-linked oligosaccharides assembly continues (PubMed:18313027, PubMed:19701946). However, the intramembrane lipid transporter activity could not be confirmed in vitro (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG., [RefSeq, PubMed]; RFT1 deficiency in both yeast and human cells leads to the accumulation of incomplete DolPP-GlcNAc(2)Man(5) and to a profound glycosylation disorder in humans., [RefSeq, PubMed]; Six patients with RFT1-CDG show sensorineural deafness as part of a severe neurological syndrome, [RefSeq, PubMed]; This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[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": 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": 646, "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": "Q96J03", "ec_number_list": [], "go_molecular_function": "GO:0034202 glycolipid floppase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006488 dolichol-linked oligosaccharide biosynthetic process;GO:0006487 protein N-linked glycosylation;GO:0034203 glycolipid translocation", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q96AA3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUX1-1", "uniprot_id": [ { "id": "S38A5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUX1", "type": "external" } ], "mass": 51457.0, "length": 472, "protein_name": "Sodium-coupled neutral amino acid transporter 5", "gene_name": "SLC38A5", "organism": "Human", "refseq_name": "sodium-coupled neutral amino acid transporter 5", "refseq_ac": [ { "id": "NP_277053", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_277053", "type": "external" } ], "gene_names_uniprotkb": "SLC38A5; JM24; PP7194; SN2; SNAT5", "gene_names_refseq": "JM24; SLC38A5; SN2; SNAT5; pp7194", "protein_names_uniprotkb": "Sodium-coupled neutral amino acid transporter 5; Solute carrier family 38 member 5; System N transporter 2", "protein_names_refseq": "sodium-coupled neutral amino acid transporter 5; solute carrier family 38 (amino acid transporter), member 5; system N transporter 2; transport system N, protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:92745); (R-HSA-352230)", "pathway_count": 2, "publication_count": 85, "publication_id_list": "10358010;10391915;10485994;10698697;10823827;10863037;10891391;10903140;10930503;11237011;11243884;11278508;11318953;11342143;11417227;11591158;11827462;12202949;12527723;12809675;12930836;15151999;15498874;15659399;15918515;17333282;18195088;19901323;21097500;21654843;24652292;24714562;24715725;25502872;25880248;26992070;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29314611;29437277;29632711;29769354;30410026;31217245;31611695;31844290;32350084;32357974;32387766;32897882;32983136;33592498;33912179;33936100;34078123;34171305;34357683;34433824;34509645;34932366;35051231;35154160;35251023;35318648;35580925;36241641;36454214;37458433;37531255;37803043;37887353;39894887;7589472;8010975;8101838;8340364;8702519;8910405;9174363;9878049", "class_list": "", "function": "A 50kb deletion at Xp11.23 including the two genes, SLC38A5 and FTSJ1 was found in 3 brothers with moderate to severe mental retardation., [RefSeq, PubMed]; Amino acid transporter SLC38A5 is a tumor promoter and a novel therapeutic target for pancreatic cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Amino acid transporter SLC38A5 regulates developmental and pathological retinal angiogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; SLC38A5 Modulates Ferroptosis to Overcome Gemcitabine Resistance in Pancreatic Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; SLC38A5 aggravates DC-mediated psoriasiform skin inflammation via potentiating lysosomal acidification., [RefSeq, PubMed]; Symporter that cotransports neutral amino acids and sodium ions, coupled to an H(+) antiporter activity (PubMed:11243884). Releases L-glutamine and glycine from astroglial cells and may participate in the glutamate/GABA-L-glutamine cycle and the NMDA receptors activation (By similarity). In addition, contributes significantly to L-glutamine uptake in retina, namely in ganglion and Mueller cells therefore, participates in the retinal glutamate-glutamine cycle (By similarity). The transport activity is pH sensitive and Li(+) tolerant (PubMed:11243884). Moreover functions in both direction and is associated with large uncoupled fluxes of protons (By similarity). The transport is electroneutral coupled to the cotransport of 1 Na(+) and the antiport of 1 H(+) (By similarity). May have a particular importance for modulation of net hepatic glutamine flux (By similarity)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The SLC38A5/SNAT5 amino acid transporter: from pathophysiology to pro-cancer roles in the tumor microenvironment. Review article, [RefSeq, PubMed]; The protein encoded by this gene is a system N sodium-coupled amino acid transporter. The encoded protein transports glutamine, asparagine, histidine, serine, alanine, and glycine across the cell membrane, but does not transport charged amino acids, imino acids, or N-alkylated amino acids. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Aug 2013]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B3KT20;B5MDE6;B7WPJ9;Q6PIW9;Q8WYU2;Q96PQ4", "ec_number_list": [], "go_molecular_function": "GO:0015187 glycine transmembrane transporter activity;GO:0015171 amino acid transmembrane transporter activity;GO:0015186 L-glutamine transmembrane transporter activity;GO:0015194 L-serine transmembrane transporter activity;GO:0005290 L-histidine transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0015816 glycine transport;GO:0032329 serine transport;GO:1903713 asparagine transmembrane transport;GO:1904557 L-alanine transmembrane transport;GO:0015825 L-serine transport", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q8WUX1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DJI9-1", "uniprot_id": [ { "id": "SAA2_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DJI9", "type": "external" } ], "mass": 13527.0, "length": 122, "protein_name": "Serum amyloid A-2 protein", "gene_name": "SAA2", "organism": "Human", "refseq_name": "serum amyloid A-2 protein isoform b preproprotein", "refseq_ac": [ { "id": "NP_001120852", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001120852", "type": "external" } ], "gene_names_uniprotkb": "SAA2", "gene_names_refseq": "SAA2; SAA", "protein_names_uniprotkb": "Serum amyloid A-2 protein; SAA2", "protein_names_refseq": "serum amyloid A-2 protein isoform b preproprotein; serum amyloid A-2 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:6289)", "pathway_count": 1, "publication_count": 21, "publication_id_list": "10211414;11237011;1463770;1656519;1971508;25576301;2890635;29557506;30397120;31100086;31819008;3183061;31848261;32157095;32572240;32938616;35318648;35580925;3661195;3800865;38429888", "class_list": "", "function": "After stimulation by various pro-inflammatory conditions, changes in SAA1, SAA2 and SAA4 gene expression at both the transcriptional and protein levels were evaluated during maturation of freshly collected human monocytes into macrophages. Publication Status: Online-Only, [RefSeq, PubMed]; Elevated expression of interleukin-6 (IL-6) and serum amyloid A (SAA) in the skin and the serum of recessive dystrophic epidermolysis bullosa: Skin as a possible source of IL-6 through Toll-like receptor ligands and SAA., [RefSeq, PubMed]; Major acute phase reactant., [UniProtKB, UniProtKB]; Major acute phase reactant. Apolipoprotein of the HDL complex., [UniProtKB, UniProtKB, UniProtKB]; SAA2 displays antimicrobial activity against S. aureus and E. coli., [RefSeq, PubMed]; Serum amyloid A is a soluble pattern recognition receptor that drives type 2 immunity., [RefSeq, PubMed]; This gene encodes a member of the serum amyloid A family of apolipoproteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a major acute phase protein that is highly expressed in response to inflammation and tissue injury. This protein also plays an important role in HDL metabolism and cholesterol homeostasis. High levels of this protein are associated with chronic inflammatory diseases including atherosclerosis, rheumatoid arthritis, Alzheimer's disease and Crohn's disease. This protein may also be a potential biomarker for certain tumors. Finally, antimicrobial activity against S. aureus and E. coli resides in the N-terminal portion of the mature protein. [provided by RefSeq, Jul 2020]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": 0, "binding_glycan_count": 0, "secondary_ac_list": "G3XAK9;P02735;P02736;P02737;Q16730;Q16834;Q16835;Q16879;Q3KRB3;Q6FG67;Q96QN0;Q9UCK9;Q9UCL0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0034364 high-density lipoprotein particle;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006953 acute-phase response", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P0DJI9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43760-1", "uniprot_id": [ { "id": "SNG2_HUMAN", "url": "https://www.uniprot.org/uniprot/O43760", "type": "external" } ], "mass": 24810.0, "length": 224, "protein_name": "Synaptogyrin-2", "gene_name": "SYNGR2", "organism": "Human", "refseq_name": "synaptogyrin-2 isoform 2", "refseq_ac": [ { "id": "NP_001307452", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307452", "type": "external" } ], "gene_names_uniprotkb": "SYNGR2; PRO615", "gene_names_refseq": "SYNGR2", "protein_names_uniprotkb": "Synaptogyrin-2; Cellugyrin", "protein_names_refseq": "cellugyrin; synaptogyrin-2 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9144)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "10.1038/emboj.2013.79;11237011;12975309;19413330;19901323;22223895;23186163;23584533;25418920;25502872;25880248;26375851;26853435;26992070;27090790;27226560;27452731;27543614;27846572;27920218;28063628;28218747;28228285;28467828;28832583;28904123;29242379;29331515;29393594;29437277;29557506;29632046;30315122;30573663;30626607;30779550;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32265295;32350084;32983136;33043033;33298915;33392160;33912179;33968037;34171305;34211107;34357683;34433824;34561969;34725712;34932366;35051231;35154160;35318648;35580925;36010968;36215666;36241641;37170221;37938771;38665916;9760194", "class_list": "", "function": "(Microbial infection) May play a role in the assembly of cytoplasmic inclusion bodies required for SFTS phlebovirus replication., [UniProtKB, PubMed]; May play a role in regulated exocytosis. In neuronal cells, modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in the formation and/or the maturation of this vesicles. May also play a role in GLUT4 storage and transport to the plasma membrane., [UniProtKB, UniProtKB]; Pan-cancer analysis of SYNGR2 with a focus on clinical implications and immune landscape in liver hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Synaptogyrin-2 is essential to promoting the formation of the IBs to become virus factories for viral RNA replication through its interaction with NSs. These findings unveil the function of synaptogyrin-2 as an enhancer in viral infection., [RefSeq, PubMed]; This gene encodes an integral membrane protein containing four transmembrane regions and a C-terminal cytoplasmic tail that is tyrosine phosphorylated. The exact function of this protein is unclear, but studies of a similar rat protein suggest that it may play a role in regulating membrane traffic in non-neuronal cells. The gene belongs to the synaptogyrin gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "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": "O43762;Q3KQZ2;Q658S7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005811 lipid droplet;GO:0016020 membrane;GO:0031594 neuromuscular junction;GO:0070062 extracellular exosome;GO:0030672 synaptic vesicle membrane", "go_biological_process": "GO:0045055 regulated exocytosis;GO:0048499 synaptic vesicle membrane organization", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "O43760-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09001-1", "uniprot_id": [ { "id": "RM03_HUMAN", "url": "https://www.uniprot.org/uniprot/P09001", "type": "external" } ], "mass": 38633.0, "length": 348, "protein_name": "Large ribosomal subunit protein uL3m", "gene_name": "MRPL3", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL3m", "refseq_ac": [ { "id": "NP_009139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009139", "type": "external" } ], "gene_names_uniprotkb": "MRPL3; MRL3; RPML3", "gene_names_refseq": "COXPD9; MRL3; MRPL3; RPML3; uL3m", "protein_names_uniprotkb": "Large ribosomal subunit protein uL3m; 39S ribosomal protein L3, mitochondrial; L3mt; MRP-L3", "protein_names_refseq": "39S ribosomal protein L3, mitochondrial; L3mt; MRP-L3; large ribosomal subunit protein uL3m; mitochondrial 60S ribosomal protein L3; mitochondrial large ribosomal subunit protein uL3m", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 9 (Disease Ontology:DOID:0111472)", "pathway": " (hsa:11222); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 61, "publication_id_list": "11237011;15358359;17803939;18429816;18782833;19524667;19716793;20068231;20186120;21786366;21907147;22172991;2250005;23481700;24715725;25233460;25278503;25576301;25645385;25838379;26154972;26992070;27029019;27600516;27920218;28218747;28510447;28832583;28834231;28892042;28904123;2891103;29242379;29437277;29557506;29632046;30192525;30315122;30524438;31217245;31844290;32157095;32161166;32938616;32983136;33141586;33243891;33298915;33592498;33878294;33912179;33968037;34171305;34357683;34509645;35051231;35177605;35561310;36302763;36596788;37141370", "class_list": "", "function": "Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6IBT2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "P09001-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBE0-1", "uniprot_id": [ { "id": "SAE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBE0", "type": "external" } ], "mass": 38450.0, "length": 346, "protein_name": "SUMO-activating enzyme subunit 1", "gene_name": "SAE1", "organism": "Human", "refseq_name": "SUMO-activating enzyme subunit 1 isoform b", "refseq_ac": [ { "id": "NP_001139185", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139185", "type": "external" } ], "gene_names_uniprotkb": "SAE1; AOS1; SUA1; UBLE1A", "gene_names_refseq": "AOS1; HSPC140; SAE1; SUA1; UBLE1A", "protein_names_uniprotkb": "SUMO-activating enzyme subunit 1; Ubiquitin-like 1-activating enzyme E1A", "protein_names_refseq": "SUMO-1 activating enzyme E1 N subunit; SUMO-1 activating enzyme subunit 1; SUMO-activating enzyme subunit 1 isoform b; SUMO-activating enzyme subunit 1; activator of SUMO1; sentrin/SUMO-activating protein AOS1; ubiquitin-like 1-activating enzyme E1A; ubiquitin-like protein SUMO-1 activating enzyme", "tax_id": 9606, "disease": "hematologic cancer (Disease Ontology:DOID:2531)", "pathway": " (hsa:10055); (R-HSA-3065676); (R-HSA-3065678)", "pathway_count": 3, "publication_count": 111, "publication_id_list": "10187858;10217437;11237011;11451954;11481243;12042320;12641448;15104674;15660128;16620772;17525332;17643372;18077418;19107418;19443651;19664994;20164921;20501649;23186163;23301498;24715725;25418920;25489052;25576301;25645385;25892735;26154972;26375851;26758079;26811146;26929215;26992070;27600516;27846572;27920218;28218747;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30484775;30524438;30779550;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33123756;33141586;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34405274;34433824;34509645;34561969;34932366;35051231;35138101;35251023;35318648;35494241;35561310;35580925;36010968;36215666;36241641;36284347;36748193;37705041;37938771;38351014;38665916;39894887;40914422;9920803", "class_list": "", "function": "Circ-RAPGEF5 promotes intrahepatic cholangiocarcinoma progression by stabilizing SAE1 to facilitate SUMOylation. Publication Status: Online-Only, [RefSeq, PubMed]; Increased Small Ubiquitin-like Modifier-Activating Enzyme SAE1 Promotes Hepatocellular Carcinoma by Enhancing mTOR SUMOylation., [RefSeq, PubMed]; Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]., [RefSeq]; ROS-mediated up-regulation of SAE1 by Helicobacter pylori promotes human gastric tumor genesis and progression. Publication Status: Online-Only, [RefSeq, PubMed]; The heterodimer acts as an E1 ligase for SUMO1, SUMO2, SUMO3, and probably SUMO4. It mediates ATP-dependent activation of SUMO proteins followed by formation of a thioester bond between a SUMO protein and a conserved active site cysteine residue on UBA2/SAE2., [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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RDP5;B3KMQ2;F5GXX7;G3XAK6;O95717;Q9P020", "ec_number_list": [], "go_molecular_function": "GO:0019948 SUMO activating enzyme activity;GO:0008047 enzyme activator activity;GO:0046982 protein heterodimerization activity;GO:0004839 ubiquitin activating enzyme activity;GO:0043008 ATP-dependent protein binding", "go_cellular_component": "GO:0031510 SUMO activating enzyme complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0016925 protein sumoylation;GO:1903955 positive regulation of protein targeting to mitochondrion;GO:0033235 positive regulation of protein sumoylation", "synthesized_glycan_count": 0, "hit_score": 11.4, "record_id": "Q9UBE0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P55735-1", "uniprot_id": [ { "id": "SEC13_HUMAN", "url": "https://www.uniprot.org/uniprot/P55735", "type": "external" } ], "mass": 35541.0, "length": 322, "protein_name": "Protein SEC13 homolog", "gene_name": "SEC13", "organism": "Human", "refseq_name": "protein SEC13 homolog isoform 3", "refseq_ac": [ { "id": "NP_001129498", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129498", "type": "external" } ], "gene_names_uniprotkb": "SEC13; D3S1231E; SEC13A; SEC13L1; SEC13R", "gene_names_refseq": "D3S1231E; SEC13L1; SEC13R; SEC13; npp-20", "protein_names_uniprotkb": "Protein SEC13 homolog; GATOR2 complex protein SEC13; SEC13-like protein 1; SEC13-related protein", "protein_names_refseq": "GATOR complex protein SEC13; GATOR2 complex protein SEC13; SEC13 homolog, nuclear pore and COPII coat complex component; SEC13 homolog, nuclear pore and COPII coating complex component; SEC13-like protein 1; SEC13-related protein; protein SEC13 homolog isoform 3; protein SEC13 homolog", "tax_id": 9606, "disease": "candidiasis (Disease Ontology:DOID:1508)", "pathway": " (hsa:6396); (R-HSA-1169408); (R-HSA-141430); (R-HSA-141444); (R-HSA-159227); (R-HSA-159230); (R-HSA-159231); (R-HSA-159236); (R-HSA-165054); (R-HSA-168271); (R-HSA-168276); (R-HSA-168325); (R-HSA-168333); (R-HSA-170822); (R-HSA-180746); (R-HSA-180910); (R-HSA-1855170); (R-HSA-1855196); (R-HSA-1855229); (R-HSA-191859); (R-HSA-204005); (R-HSA-2132295); (R-HSA-2467813); (R-HSA-2500257); (R-HSA-3108214); (R-HSA-3232142); (R-HSA-3301854); (R-HSA-3371453); (R-HSA-4085377); (R-HSA-4551638); (R-HSA-4570464); (R-HSA-4615885); (R-HSA-5619107); (R-HSA-5663220); (R-HSA-6784531); (R-HSA-68877); (R-HSA-9609690); (R-HSA-9610379); (R-HSA-9615933); (R-HSA-9639288); (R-HSA-9648025); (R-HSA-9705671); (R-HSA-983170)", "pathway_count": 43, "publication_count": 713, "publication_id_list": 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"class_list": "", "function": "As a component of the GATOR2 complex, functions as an activator of the amino acid-sensing branch of the mTORC1 signaling pathway (PubMed:23723238, PubMed:25457612, PubMed:27487210, PubMed:35831510, PubMed:36528027). The GATOR2 complex indirectly activates mTORC1 through the inhibition of the GATOR1 subcomplex (PubMed:23723238, PubMed:27487210, PubMed:35831510, PubMed:36528027). GATOR2 probably acts as an E3 ubiquitin-protein ligase toward GATOR1 (PubMed:36528027). 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). In the absence of amino acids, GATOR2 is inhibited, activating the GATOR1 complex (PubMed:25457612, PubMed:26972053, PubMed:27487210). Within the GATOR2 complex, SEC13 and SEH1L are required to stabilize the complex (PubMed:35831510)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Functions as a component of the nuclear pore complex (NPC) and the COPII coat (PubMed:8972206). At the endoplasmic reticulum, SEC13 is involved in the biogenesis of COPII-coated vesicles (PubMed:8972206). Required for the exit of adipsin (CFD/ADN), an adipocyte-secreted protein from the endoplasmic reticulum (By similarity)., [UniProtKB, UniProtKB, PubMed]; Functions as a component of the nuclear pore complex (NPC) and the COPII coat. At the endoplasmic reticulum, SEC13 is involved in the biogenesis of COPII-coated vesicles. Required for the exit of adipsin (CFD/ADN), an adipocyte-secreted protein from the endoplasmic reticulum., [UniProtKB, UniProtKB]; The protein encoded by this gene belongs to the SEC13 family of WD-repeat proteins. It is a constituent of the endoplasmic reticulum and the nuclear pore complex. It has similarity to the yeast SEC13 protein, which is required for vesicle biogenesis from endoplasmic reticulum during the transport of proteins. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 12, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8MV37;B4DXJ1;Q5BJF0;Q9BRM6;Q9BUG7", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0005198 structural molecule activity", "go_cellular_component": "GO:0031080 nuclear pore outer ring;GO:0005635 nuclear envelope;GO:0005654 nucleoplasm;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol", "go_biological_process": "GO:1904263 positive regulation of TORC1 signaling;GO:0090110 COPII-coated vesicle cargo loading;GO:0006886 intracellular protein transport;GO:0006913 nucleocytoplasmic transport;GO:0031669 cellular response to nutrient levels", "synthesized_glycan_count": 0, "hit_score": 71.7, "record_id": "P55735-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y3P4-1", "uniprot_id": [ { "id": "RHBD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y3P4", "type": "external" } ], "mass": 40484.0, "length": 386, "protein_name": "Rhomboid domain-containing protein 3", "gene_name": "RHBDD3", "organism": "Human", "refseq_name": "rhomboid domain-containing protein 3", "refseq_ac": [ { "id": "NP_001316465", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316465", "type": "external" } ], "gene_names_uniprotkb": "RHBDD3; C22orf3", "gene_names_refseq": "C22orf3; HS984G1A; PTAG; RHBDD3", "protein_names_uniprotkb": "Rhomboid domain-containing protein 3", "protein_names_refseq": "hypothetical protein HS984G1A; pituitary tumor apoptosis; rhomboid domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:25807)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;15105437;17117413;18477386;19212622;27920218;28904123;32938616;34087483;35051231", "class_list": "", "function": "Isolation of a novel differentially methylated chromosome 22 CpG island-associated gene PTAG, [RefSeq, PubMed]; Loss of PTAG contributes to a blunted apoptotic response and is likely to predispose cells toward malignant transformation and resistance to chemotherapeutic interventions., [RefSeq, PubMed]; The EWSR1 promoter functions in a bidirectional manner, thereby regulating also RHBDD3, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q6I9X3;Q9UGQ7", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9Y3P4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H628-1", "uniprot_id": [ { "id": "RERGL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H628", "type": "external" } ], "mass": 23405.0, "length": 204, "protein_name": "Ras-related and estrogen-regulated growth inhibitor-like protein", "gene_name": "RERGL", "organism": "Human", "refseq_name": "ras-related and estrogen-regulated growth inhibitor-like protein isoform b", "refseq_ac": [ { "id": "NP_001273130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273130", "type": "external" } ], "gene_names_uniprotkb": "RERGL", "gene_names_refseq": "RERGL", "protein_names_uniprotkb": "Ras-related and estrogen-regulated growth inhibitor-like protein; 3.6.5.2; RERG/Ras-like protein", "protein_names_refseq": "RERG/RAS-like; ras-related and estrogen-regulated growth inhibitor-like protein isoform b; ras-related and estrogen-regulated growth inhibitor-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:79785)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;24127187", "class_list": "", "function": "Binds GDP/GTP and may possess intrinsic GTPase activity., [UniProtKB, UniProtKB]; Loss of RERGL expression is associated with familial 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": 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": "F5H686", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0005525 GTP binding;GO:0003925 G protein activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q9H628-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TC82-1", "uniprot_id": [ { "id": "RC3H1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TC82", "type": "external" } ], "mass": 125736.0, "length": 1133, "protein_name": "Roquin-1", "gene_name": "RC3H1", "organism": "Human", "refseq_name": "roquin-1 isoform a", "refseq_ac": [ { "id": "NP_001287779", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287779", "type": "external" } ], "gene_names_uniprotkb": "RC3H1; KIAA2025; RNF198", "gene_names_refseq": "FHL6; IMDSHY; RC3H1; RNF198; ROQUIN", "protein_names_uniprotkb": "Roquin-1; 2.3.2.27; RING finger and C3H zinc finger protein 1; RING finger and CCCH-type zinc finger domain-containing protein 1; RING finger protein 198; Roquin", "protein_names_refseq": "RING finger and C3H zinc finger protein 1; RING finger and CCCH-type zinc finger domain-containing protein 1; RING finger protein 198; probable E3 ubiquitin-protein ligase Roquin; roquin-1 isoform a; roquin-1", "tax_id": 9606, "disease": "peripheral T-cell lymphoma (Disease Ontology:DOID:0050749); systemic lupus erythematosus (Disease Ontology:DOID:9074); hemophagocytic lymphohistiocytosis, familial, 6 (MONDO:MONDO:0033557)", "pathway": " (hsa:149041)", "pathway_count": 1, "publication_count": 53, "publication_id_list": "18669648;19413330;23186163;23550652;24275569;24715725;25026078;25418920;25504471;25697406;26489670;26992070;27846572;28063628;28832583;28834231;28855257;28904123;29242379;29393594;29557506;29632046;30410026;30429286;30620550;30779550;31154438;31492838;31530632;31636267;31844290;31848261;32157095;32350084;32387766;32488085;32502341;32938616;33228782;33298915;33691108;33912179;33968037;33981976;34932366;35051231;35082795;35494241;35580925;35999072;36010968;36920923;40307207", "class_list": "", "function": "Combined disruption of T cell inflammatory regulators Regnase-1 and Roquin-1 enhances antitumor activity of engineered human T cells., [RefSeq, PubMed]; Dynamic Regulation of the Nexus Between Stress Granules, Roquin, and Regnase-1 Underlies the Molecular Pathogenesis of Warfare Vesicants. Publication Status: Online-Only, [RefSeq, PubMed]; MiR-150 promotes progressive T cell differentiation via inhibiting FOXP1 and RC3H1., [RefSeq, PubMed]; Post-transcriptional repressor of mRNAs containing a conserved stem loop motif, called constitutive decay element (CDE), which is often located in the 3'-UTR, as in HMGXB3, ICOS, IER3, NFKBID, NFKBIZ, PPP1R10, TNF, TNFRSF4 and in many more mRNAs (PubMed:25026078, PubMed:31636267). Cleaves translationally inactive mRNAs harboring a stem-loop (SL), often located in their 3'-UTRs, during the early phase of inflammation in a helicase UPF1-independent manner (By similarity). Binds to CDE and promotes mRNA deadenylation and degradation. This process does not involve miRNAs (By similarity). In follicular helper T (Tfh) cells, represses of ICOS and TNFRSF4 expression, thus preventing spontaneous Tfh cell differentiation, germinal center B-cell differentiation in the absence of immunization and autoimmunity (By similarity). In resting or LPS-stimulated macrophages, controls inflammation by suppressing TNF expression (By similarity). Also recognizes CDE in its own mRNA and in that of paralogous RC3H2, possibly leading to feedback loop regulation (By similarity). Recognizes and binds mRNAs containing a hexaloop stem-loop motif, called alternative decay element (ADE) (By similarity). Together with ZC3H12A, destabilizes TNFRSF4/OX40 mRNA by binding to the conserved stem loop structure in its 3'UTR (By similarity). Able to interact with double-stranded RNA (dsRNA) (PubMed:25026078, PubMed:25504471). miRNA-binding protein that regulates microRNA homeostasis. Enhances DICER-mediated processing of pre-MIR146a but reduces mature MIR146a levels through an increase of 3' end uridylation. Both inhibits ICOS mRNA expression and they may act together to exert the suppression (PubMed:25697406, PubMed:31636267). Acts as a ubiquitin E3 ligase. Pairs with E2 enzymes UBE2A, UBE2B, UBE2D2, UBE2F, UBE2G1, UBE2G2 and UBE2L3 and produces polyubiquitin chains (PubMed:26489670). Shows the strongest activity when paired with UBE2N:UBE2V1 or UBE2N:UBE2V2 E2 complexes and generate both short and long polyubiquitin chains (PubMed:26489670)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Roquin1 inhibits the proliferation of breast cancer cells by inducing G1/S cell cycle arrest via selectively destabilizing the mRNAs of cell cycle-promoting genes. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a protein containing RING-type and C3H1-type zinc finger motifs. The encoded protein recognizes and binds to a constitutive decay element (CDE) in the 3' UTR of mRNAs, leading to mRNA deadenylation and degradation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 8, "reported_glycation": 0, "reported_snv": 24, "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": "B3KVK1;Q5W180;Q5W181;Q8IVE6;Q8N9V1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0003725 double-stranded RNA binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0000932 P-body;GO:0010494 cytoplasmic stress granule", "go_biological_process": "GO:0002635 negative regulation of germinal center formation;GO:2000320 negative regulation of T-helper 17 cell differentiation;GO:0045623 negative regulation of T-helper cell differentiation;GO:0010608 post-transcriptional regulation of gene expression;GO:0043488 regulation of mRNA stability", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q5TC82-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5W5W9-2", "uniprot_id": [ { "id": "RES18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5W5W9", "type": "external" } ], "mass": 24956.0, "length": 228, "protein_name": "Regulated endocrine-specific protein 18", "gene_name": "RESP18", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RESP18", "gene_names_refseq": "", "protein_names_uniprotkb": "Regulated endocrine-specific protein 18", "protein_names_refseq": "", "tax_id": 9606, "disease": "renal fibrosis (Disease Ontology:DOID:0050855); hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:389075)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "17951542;29557506;37217939", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8MQ49;Q38I23;Q5W5X0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5W5W9-2", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6NTF9-1", "uniprot_id": [ { "id": "RHBD2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6NTF9", "type": "external" } ], "mass": 39202.0, "length": 364, "protein_name": "Rhomboid domain-containing protein 2", "gene_name": "RHBDD2", "organism": "Human", "refseq_name": "rhomboid domain-containing protein 2 isoform a", "refseq_ac": [ { "id": "NP_001035546", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035546", "type": "external" } ], "gene_names_uniprotkb": "RHBDD2; RHBDL7", "gene_names_refseq": "NPD007; RHBDD2; RHBDL7", "protein_names_uniprotkb": "Rhomboid domain-containing protein 2", "protein_names_refseq": "rhomboid domain-containing protein 2 isoform a; rhomboid domain-containing protein 2; rhomboid, veinlet-like 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:57414)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "11237011;19616622;20068231;22965880;23386608;23481700;24715725;25576301;26811146;26992070;27600516;28228285;28649982;28832583;28904123;29242379;29393594;29493099;29557506;30429286;30484775;30779550;30833945;31154438;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32265295;32339641;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33592498;33691108;33912179;33936100;33968037;34087483;34109992;34171305;34357683;34509645;34725712;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37938771", "class_list": "", "function": "Increased RHBDD2 expression in response to the chemotherapy is associated with advanced stages of colorectal cancer., [RefSeq, PubMed]; RHBDD2 over-expression behaves as an indicator of poor prognosis and may play a role facilitating breast cancer progression., [RefSeq, PubMed]; RHBDD2 overexpression promotes a chemoresistant and invasive phenotype to rectal cancer tumors via modulating UPR and focal adhesion genes., [RefSeq, PubMed]; RHBDD2WWOX protein interaction during proliferative and differentiated stages in normal and breast cancer cells., [RefSeq, PubMed]; The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q7L534;Q9H5W6;Q9HBK7;Q9UDT2", "ec_number_list": [], "go_molecular_function": "GO:0005047 signal recognition particle binding;GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0030968 endoplasmic reticulum unfolded protein response;GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 6.4, "record_id": "Q6NTF9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P4F7-1", "uniprot_id": [ { "id": "RHGBA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P4F7", "type": "external" } ], "mass": 113866.0, "length": 1023, "protein_name": "Rho GTPase-activating protein 11A", "gene_name": "ARHGAP11A", "organism": "Human", "refseq_name": "rho GTPase-activating protein 11A isoform 3", "refseq_ac": [ { "id": "NP_001273408", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273408", "type": "external" } ], "gene_names_uniprotkb": "ARHGAP11A; KIAA0013", "gene_names_refseq": "ARHGAP11A; GAP (1-12)", "protein_names_uniprotkb": "Rho GTPase-activating protein 11A; Rho-type GTPase-activating protein 11A", "protein_names_refseq": "rho GTPase-activating protein 11A isoform 3; rho-type GTPase-activating protein 11A", "tax_id": 9606, "disease": "", "pathway": " (hsa:9824); (R-HSA-8980692)", "pathway_count": 2, "publication_count": 237, "publication_id_list": "10.1101/2023.09.13.557529;10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12531887;12650940;12857875;12877655;14512443;15023524;15064355;15107133;15302923;15342493;15485661;15601624;15611138;15850391;15866170;16112081;16116428;16184169;16217026;16467373;16519628;16565220;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16959974;17077126;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18220336;18669648;18829452;19007248;19413330;19494238;19605563;19635168;19664995;19673492;19690332;19691289;19713215;20030946;20068231;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21454492;21565175;21699497;21865595;21936715;22096251;22298643;22305756;22544926;22645359;22673745;22911862;22992742;23186163;23200924;23255595;23434736;23481700;23572525;23870313;24086303;24128008;24259668;24335996;24352656;24366607;24715725;24933155;24958902;25211221;25576301;25704760;25880248;26024233;26154972;26371245;26375851;26529257;26811146;26887924;26992070;27058226;27145964;27216196;27481945;27846572;27862975;27920218;27957544;27986909;28063628;28112683;28196833;28218747;28228285;28584191;28832583;28834231;28904123;29146911;29242379;29393594;29437277;29493099;29557506;29632046;30484775;30524438;31105010;31844290;31871319;31883789;32157095;32203420;32265295;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34087483;34171305;34211107;34405274;34509645;34561969;34932366;35051231;35254053;35580925;36010968;36215666;36241641;36924763;37175461;38046902;39389782;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": "ARHGAP11A Is a Novel Prognostic and Predictive Biomarker Correlated with Immunosuppressive Microenvironment in Clear Cell Renal Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state., [UniProtKB, PubMed, UniProtKB, UniProtKB]; Protooncogenic Role of ARHGAP11A and ARHGAP11B in Invasive Ductal Carcinoma: Two Promising Breast Cancer Biomarkers. Publication Status: Online-Only, [RefSeq, PubMed]; Subcellular mRNA localization and local translation of Arhgap11a in radial glial progenitors regulates cortical development., [RefSeq, PubMed]; The hGID[GID4] E3 ubiquitin ligase complex targets ARHGAP11A to regulate cell migration. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the Rho GTPase activating protein family. In response to DNA damage, the encoded protein interacts with the p53 tumor suppressor protein and stimulates its tetramerization, which results in cell-cycle arrest and apoptosis. A chromosomal deletion that includes this gene is one cause of Prader-Willi syndrome, and an intronic variant of this gene may be associated with sleep duration in children. This gene is highly expressed in colon cancers and in a human basal-like breast cancer cell line. This gene also produces a ARHGAP11A-SCG5 readthrough transcript and ARHGAP11A-SCG5 protein. [provided by RefSeq, Feb 2019]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 21, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "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": "B4DZN9;Q6PI96;Q9Y3S6", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0043547 positive regulation of GTPase activity;GO:0051056 regulation of small GTPase mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 24.2, "record_id": "Q6P4F7-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UW15-1", "uniprot_id": [ { "id": "REG3G_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UW15", "type": "external" } ], "mass": 19330.0, "length": 175, "protein_name": "Regenerating islet-derived protein 3-gamma", "gene_name": "REG3G", "organism": "Human", "refseq_name": "regenerating islet-derived protein 3-gamma isoform 1 preproprotein", "refseq_ac": [ { "id": "NP_001008388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008388", "type": "external" } ], "gene_names_uniprotkb": "REG3G; PAP1B; PRO162", "gene_names_refseq": "LPPM429; PAP IB; PAP-1B; PAP1B; PAPIB; REG III; REG-III; REG3G; UNQ429", "protein_names_uniprotkb": "Regenerating islet-derived protein 3-gamma; PAP IB; PAP-1B; Pancreatitis-associated protein 1B; Pancreatitis-associated protein IB; REG III; REG-3-gamma; Reg III-gamma; Regenerating islet-derived protein III-gamma", "protein_names_refseq": "REG-3-gamma; pancreatitis-associated protein 1B; pancreatitis-associated protein IB; reg III-gamma; regenerating gene III; regenerating islet-derived 3 gamma; regenerating islet-derived protein 3-gamma isoform 1 preproprotein; regenerating islet-derived protein 3-gamma; regenerating islet-derived protein III-gamma", "tax_id": 9606, "disease": "chronic pancreatitis (Disease Ontology:DOID:0051065); sciatic neuropathy (Disease Ontology:DOID:11446); acute pancreatitis (Disease Ontology:DOID:2913); pneumonia (Disease Ontology:DOID:552); type 2 diabetes mellitus (Disease Ontology:DOID:9352)", "pathway": " (hsa:130120); (R-HSA-6803157)", "pathway_count": 2, "publication_count": 72, "publication_id_list": "11120840;11313366;11389039;11971875;12493837;12975309;13816;14506276;14702039;14739326;1522221;15229136;15340161;15489334;15556304;15777617;15778384;15815621;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;22262861;22312430;22327069;22455996;22701042;23302724;23426625;24152035;24219363;24256734;25075772;25461571;25596890;26148048;27089320;29557506;31767934;3286634;32935661;33923774;35051231;9523110;9665269;9756476", "class_list": "glycogene", "function": "A model of CagA-directed REG3gamma expression in gastric epithelial cells via activation of the IL-11/gp130/STAT3 pathway, [RefSeq, PubMed]; Acts as a hormone in response to different stimuli like anti-inflammatory signals, such as IL17A, or gut microbiome. Is secreted by different cell types to activate its receptor EXTL3 and induce cell specific signaling pathways. Induced by IL17A in keratinocytes, regulates keratinocyte proliferation and differentiation after skin injury. In parallel, inhibits skin inflammation through the inhibition of inflammatory cytokines such as IL6 and TNF. Induced by IL22 in lung epithelial cells, inhibits cytokine production and regulates allergic airway inflammation. Induced in small intestine by inulin-enriched diet and Lactobacillus gasseri enriched microbiome, plays a role in the improvement of gut barrier function, the regulation of energy balance and glucose levels. Modulates microbiota composition in duodenal contents. Produced by nociceptor in response to endotoxins, prevents endotoxic death by targeting kynurenine pathway in microglia., [UniProtKB, UniProtKB]; Bactericidal C-type lectin which acts exclusively against Gram-positive bacteria and mediates bacterial killing by binding to surface-exposed carbohydrate moieties of peptidoglycan. Restricts bacterial colonization of the intestinal epithelial surface and consequently limits activation of adaptive immune responses by the microbiota., [UniProtKB, PubMed]; Has bactericidal activity against L.monocytogenes and methicillin-resistant S.aureus., [UniProtKB, PubMed]; Has bacteriostatic activity., [UniProtKB, PubMed]; Myocardial Accumulations of Reg3A, Reg3gamma and Oncostatin M Are Associated with the Formation of Granulomata in Patients with Cardiac Sarcoidosis. Publication Status: Online-Only, [RefSeq, PubMed]; PAP IB represents a good example of duplication and divergence, probably with the acquisition of new functions, thus participating in the evolution of the protein repertoire., [RefSeq, PubMed]; Proteasome-dependent degradation of Smad7 is critical for lung cancer metastasis., [RefSeq, PubMed]; REG III was identified and expressed predominantly in pancreas and testis, but not in small intestine, [RefSeq, PubMed]; Role of oncogenic REGgamma in cancer. Review article, [RefSeq, PubMed]; This gene encodes a member of the regenerating islet-derived genes (REG)3 protein family. These proteins are secreted, C-type lectins with a carbohydrate recognition domain and N-terminal signal peptide. The protein encoded by this gene is an antimicrobial lectin with activity against Gram-positive bacteria. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Nov 2014]., [RefSeq]; This gene encodes a secreted peptide that displays antimicrobial activity against Gram-positive bacteria., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 362, "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": "A8K980;D6W5J6;Q3SYE4;Q3SYE6;Q6FH18", "ec_number_list": [], "go_molecular_function": "GO:0070492 oligosaccharide binding;GO:0042834 peptidoglycan binding;GO:0046872 metal ion binding;GO:0005179 hormone activity;GO:0008083 growth factor activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005737 cytoplasm", "go_biological_process": "GO:0045617 negative regulation of keratinocyte differentiation;GO:0008284 positive regulation of cell population proliferation;GO:0050830 defense response to Gram-positive bacterium;GO:0061844 antimicrobial humoral immune response mediated by antimicrobial peptide;GO:0006953 acute-phase response", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q6UW15-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6VN20-1", "uniprot_id": [ { "id": "RBP10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6VN20", "type": "external" } ], "mass": 67257.0, "length": 620, "protein_name": "Ran-binding protein 10", "gene_name": "RANBP10", "organism": "Human", "refseq_name": "ran-binding protein 10 isoform 2", "refseq_ac": [ { "id": "NP_001307167", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307167", "type": "external" } ], "gene_names_uniprotkb": "RANBP10; KIAA1464", "gene_names_refseq": "RANBP10", "protein_names_uniprotkb": "Ran-binding protein 10; RanBP10", "protein_names_refseq": "Ran-binding protein 10; ran-binding protein 10 isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:57610); (R-HSA-8851805)", "pathway_count": 2, "publication_count": 75, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12147692;14684163;15314156;18222118;18347012;18669648;18767875;19413330;19415658;19651622;19664995;19690332;20068231;20395553;20580816;21406692;23186163;23301498;23481700;24275569;24714562;24715725;25418920;25576301;25892735;26154972;26375851;26992070;27846572;27920218;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29508533;29632046;29632711;29786170;29911972;30315122;31092671;31154438;31844290;32157095;32161166;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33691108;33936100;33968037;33974675;34211107;34671019;35051231;35561310;35580925;36010968;39894887;7513258;7708691;7731718;8703035;9038378;9070211", "class_list": "", "function": "A Ran-binding protein facilitates nuclear import of human papillomavirus type 16. Publication Status: Online-Only, [RefSeq, PubMed]; Data support the idea that RanBP9 and RanBP10 may function as signaling integrators and dictate the efficient regulation of D(1) receptor signaling by PKCdelta and PKCgamma, [RefSeq, PubMed]; May act as an adapter protein to couple membrane receptors to intracellular signaling pathways (Probable). Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1 (PubMed:29911972). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation (PubMed:18222118). Acts as a guanine nucleotide exchange factor (GEF) for RAN GTPase. May play an essential role in hemostasis and in maintaining microtubule dynamics with respect to both platelet shape and function (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed]; RAN is a small GTPase involved in the assembly of microtubules to form mitotic spindles. The protein encoded by this gene is a cytoplasmic guanine nucleotide exchange factor (GEF) that binds beta-tubulin and has GEF activity toward RAN. The encoded protein plays a role in the formation of noncentrosomal microtubules. In addition, this protein may be involved in the regulation of D(1) receptor signaling by protein kinase C delta and protein kinase C gamma. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]., [RefSeq]; RANBP10 promotes glioblastoma progression by regulating the FBXW7/c-Myc pathway. Publication Status: Online-Only, [RefSeq, PubMed]; RanBP10 might serve as a molecular link between Ran and noncentrosomal microtubules, [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": 9, "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": "A4FTY2;B4DID0;B4DQH9;E7EW27;Q9P264", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding;GO:0048487 beta-tubulin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0015630 microtubule cytoskeleton;GO:0000151 ubiquitin ligase complex", "go_biological_process": "GO:0007010 cytoskeleton organization;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "Q6VN20-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6WKZ4-4", "uniprot_id": [ { "id": "RFIP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6WKZ4", "type": "external" } ], "mass": 137167.0, "length": 1283, "protein_name": "Rab11 family-interacting protein 1", "gene_name": "RAB11FIP1", "organism": "Human", "refseq_name": "rab11 family-interacting protein 1 isoform 3", "refseq_ac": [ { "id": "NP_001002814", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001002814", "type": "external" } ], "gene_names_uniprotkb": "RAB11FIP1; RCP", "gene_names_refseq": "NOEL1A; RAB11FIP1; RCP; rab11-FIP1", "protein_names_uniprotkb": "Rab11 family-interacting protein 1; Rab-coupling protein; Rab11-FIP1", "protein_names_refseq": "RAB11 coupling protein; RAB11 family interacting protein 1 (class I); Rab effector protein; Rab-interacting recycling protein; rab11 family-interacting protein 1 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:80223)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "11495908;11786538;11944901;15134434;15181150;15280022;15355514;16920206;18669648;18691976;19690332;20068231;23186163;23301498;23481700;24714562;24715725;25502872;25576301;26032412;26154972;26728094;26992070;27846572;27862975;27920218;28228285;28411811;28832583;28834231;29242379;29314611;29493099;29508533;29557506;29632711;29786170;30315122;30429286;30779550;31844290;32157095;32350084;32357974;32387766;32502341;32938616;32983136;33141586;33298915;33392160;33691108;33912179;33968037;33981976;34087483;34152390;34171305;34211107;34357683;34509645;34638806;34932366;35051231;35561310;35580925;36241641;36284347;36354340;37217939;37945815;40914422", "class_list": "", "function": "A Rab11 effector protein involved in the endosomal recycling process. Also involved in controlling membrane trafficking along the phagocytic pathway and in phagocytosis. Interaction with RAB14 may function in the process of neurite formation (PubMed:26032412)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; MicroRNA-205 represses breast cancer metastasis by perturbing the rab coupling protein [RCP]-mediated integrin beta1 recycling on the membrane., [RefSeq, PubMed]; RCP functions primarily as a Rab11 binding protein that regulates protein sorting in tubular endosomes., [RefSeq, PubMed]; Rab coupling protein (RCP), a novel Rab4 and Rab11 effector protein, [RefSeq, PubMed]; Rab11-FIP1 and Rab11-FIP5 Regulate pIgR/pIgA Transcytosis through TRIM21-Mediated Polyubiquitination. Publication Status: Online-Only, [RefSeq, PubMed]; Rab11-FIP1C Is Dispensable for HIV-1 Replication in Primary CD4[+] T Cells, but Its Role Is Cell Type Dependent in Immortalized Human T-Cell Lines., [RefSeq, PubMed]; Rab11FIP1 maintains Rab35 at the intercellular bridge to promote actin removal and abscission., [RefSeq, PubMed]; Receptor cell surface expression and endocytosis experiments reveal that the small GTPase Rab11 protein is a determinant factor in controlling thromboxane A2 receptor beta isoform recycling back to the cell surface., [RefSeq, PubMed]; This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, trafficking of proteins including integrin subunits and epidermal growth factor receptor (EGFR), and transport between the recycling endosome and the trans-Golgi network. Alternative splicing results in multiple transcript variants. A pseudogene is described on the X chromosome. [provided by RefSeq, Dec 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": 19, "reported_mutagensis": 3, "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": "J3KNP0;Q307T1;Q6AZK4;Q6WKZ2;Q6WKZ6;Q86YV4;Q8TDL1;Q9H642", "ec_number_list": [], "go_molecular_function": "GO:0031267 small GTPase binding", "go_cellular_component": "GO:0055037 recycling endosome;GO:0030670 phagocytic vesicle membrane", "go_biological_process": "GO:0070164 negative regulation of adiponectin secretion;GO:0015031 protein transport;GO:0045055 regulated exocytosis", "synthesized_glycan_count": 0, "hit_score": 7.5, "record_id": "Q6WKZ4-4", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZWI9-1", "uniprot_id": [ { "id": "RFPLB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZWI9", "type": "external" } ], "mass": 29922.0, "length": 263, "protein_name": "Ret finger protein-like 4B", "gene_name": "RFPL4B", "organism": "Human", "refseq_name": "ret finger protein-like 4B", "refseq_ac": [ { "id": "NP_001013756", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013756", "type": "external" } ], "gene_names_uniprotkb": "RFPL4B; RNF211", "gene_names_refseq": "RFPL4B; RNF211", "protein_names_uniprotkb": "Ret finger protein-like 4B; RING finger protein 211", "protein_names_refseq": "RING finger protein 211; ret finger protein-like 4B", "tax_id": 9606, "disease": "", "pathway": " (hsa:442247)", "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": 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": "A2RU91", "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": "GO:0045087 innate immune response;GO:0010468 regulation of gene expression", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q6ZWI9-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z3J3-1", "uniprot_id": [ { "id": "RGPD4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z3J3", "type": "external" } ], "mass": 197289.0, "length": 1758, "protein_name": "RanBP2-like and GRIP domain-containing protein 4", "gene_name": "RGPD4", "organism": "Human", "refseq_name": "ranBP2-like and GRIP domain-containing protein 4", "refseq_ac": [ { "id": "NP_872394", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872394", "type": "external" } ], "gene_names_uniprotkb": "RGPD4; RGP4", "gene_names_refseq": "RGP4; RGPD4", "protein_names_uniprotkb": "RanBP2-like and GRIP domain-containing protein 4", "protein_names_refseq": "ranBP2-like and GRIP domain-containing protein 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:285190)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "15710750;20068230;23481700;26992070;28218747;29237092;30379171;30620550;31492838;32502341;32938616;33123756;35051231;35254053;35513511;37340703;39531497", "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": 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": 1, "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": 5, "binding_glycan_count": 0, "secondary_ac_list": "B9A029", "ec_number_list": [], "go_molecular_function": "GO:0019789 SUMO transferase activity", "go_cellular_component": "GO:0005643 nuclear pore", "go_biological_process": "GO:0051168 nuclear export;GO:0006607 NLS-bearing protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "Q7Z3J3-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZ40-1", "uniprot_id": [ { "id": "RCOR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZ40", "type": "external" } ], "mass": 58012.0, "length": 523, "protein_name": "REST corepressor 2", "gene_name": "RCOR2", "organism": "Human", "refseq_name": "REST corepressor 2 isoform 1", "refseq_ac": [ { "id": "NP_775858", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775858", "type": "external" } ], "gene_names_uniprotkb": "RCOR2", "gene_names_refseq": "RCOR2", "protein_names_uniprotkb": "REST corepressor 2", "protein_names_refseq": "REST corepressor 2 isoform 1", "tax_id": 9606, "disease": "Alzheimer's disease (Disease Ontology:DOID:10652)", "pathway": " (hsa:283248)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "20707881;21406692;21433225;23186163;25645385;29557506;31844290;32157095;32350084;32938616;33298915;33592498;33633747;33912179;33968037;33981976;34087483;34819154;35051231;35251023;35318648;35561310;35580925;36010968;36241641", "class_list": "", "function": "Ectopic expression of Rcor2 in both mouse and human somatic cells effectively substituted the requirement for exogenous Sox2 expression in somatic cell reprogramming., [RefSeq, PubMed]; May act as a component of a corepressor complex that represses transcription., [UniProtKB]; Revealing RCOR2 as a regulatory component of nuclear speckles. 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": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q96FP3", "ec_number_list": [], "go_molecular_function": "GO:0019899 enzyme binding;GO:0003714 transcription corepressor activity", "go_cellular_component": "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:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 2.6, "record_id": "Q8IZ40-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZJ4-1", "uniprot_id": [ { "id": "RGDSR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZJ4", "type": "external" } ], "mass": 52346.0, "length": 473, "protein_name": "Ral-GDS-related protein", "gene_name": "RGL4", "organism": "Human", "refseq_name": "ral-GDS-related protein isoform 1", "refseq_ac": [ { "id": "NP_001316353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316353", "type": "external" } ], "gene_names_uniprotkb": "RGL4; RGR", "gene_names_refseq": "RGL4; Rgr", "protein_names_uniprotkb": "Ral-GDS-related protein; Ral guanine nucleotide dissociation stimulator-like 4; RalGDS-like 4; hRGR", "protein_names_refseq": "Ral-GDS related protein Rgr; RalGDS related oncogene; ral-GDS-related protein isoform 1; ral-GDS-related protein; ralGDS-like 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:266747)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;12140761;18477386;27920218;28832583;29242379;29493099;29557506;32259700;35580925;36010968", "class_list": "", "function": "Human rgr: transforming activity and alteration in T-cell malignancies [rgr: ralGDS-related], [RefSeq, PubMed]; Low expression of RGL4 is associated with a poor prognosis and immune infiltration in lung adenocarcinoma patients., [RefSeq, PubMed]; This oncogene encodes a protein similar to guanine nucleotide exchange factor Ral guanine dissociation stimulator. Increased expression of this gene leads to translocation of the encoded protein to the cell membrane. The encoded protein can activate several pathways, including the Ras-Raf-MEK-ERK cascade. [provided by RefSeq, Jul 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "Q495L8", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0007265 Ras protein signal transduction;GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8IZJ4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N392-1", "uniprot_id": [ { "id": "RHG18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N392", "type": "external" } ], "mass": 74977.0, "length": 663, "protein_name": "Rho GTPase-activating protein 18", "gene_name": "ARHGAP18", "organism": "Human", "refseq_name": "rho GTPase-activating protein 18", "refseq_ac": [ { "id": "NP_277050", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_277050", "type": "external" } ], "gene_names_uniprotkb": "ARHGAP18", "gene_names_refseq": "ARHGAP18; MacGAP; SENEX; bA307O14.2", "protein_names_uniprotkb": "Rho GTPase-activating protein 18; MacGAP; Rho-type GTPase-activating protein 18", "protein_names_refseq": "rho GTPase-activating protein 18; rho-type GTPase-activating protein 18", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:93663); (R-HSA-8980692); (R-HSA-9013106)", "pathway_count": 3, "publication_count": 213, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12531887;12650940;12857875;12877655;14512443;15023524;15064355;15107133;15231747;15302923;15342493;15485661;15601624;15611138;15850391;15866170;16112081;16116428;16184169;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;17077126;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18077418;18158243;18218625;18829452;18987618;18991276;19494238;19605563;19635168;19673492;19713215;20030946;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21454492;21565175;21576392;21699497;21757538;21865595;21936715;22096251;22298643;22305756;22673745;22790947;22911862;22992742;23186163;23200924;23255595;23434736;23481700;23572525;23870313;24086303;24128008;24259668;24335996;24352656;24933155;25211221;25425145;25576301;25645385;25704760;25778702;26154972;26371245;26529257;26887924;26992070;27145964;27216196;27481945;27846572;27862975;27986909;28112683;28196833;28218747;28228285;28584191;28832583;28834231;28904123;29146911;29242379;29331515;29493099;29557506;29786170;30315122;30379171;30429286;30510148;30779550;31105010;31776727;31844290;31848261;31871319;32013974;32157095;32161166;32203420;32350084;32357974;32488085;32502341;32938616;32983136;33092266;33141586;33298915;33912179;33968037;33981976;34185709;34211107;34932366;35051231;35580925;36010968;36284347;37171759;37938771;40914422;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 Screen for PKN3 Substrates Reveals an Activating Phosphorylation of ARHGAP18. Publication Status: Online-Only, [RefSeq, PubMed]; ARHGAP18 is Upregulated by Transcription Factor GATA1 Promotes the Proliferation and Invasion in Hepatocellular Carcinoma., [RefSeq, PubMed]; Novel SNP rs11759328 on Rho GTPase-activating protein 18 gene is associated with the expression of Hb F in hemoglobin E-related disorders., [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Rho GTPase activating protein that suppresses F-actin polymerization by inhibiting Rho. Rho GTPase activating proteins act by converting Rho-type GTPases to an inactive GDP-bound state (PubMed:21865595). Plays a key role in tissue tension and 3D tissue shape by regulating cortical actomyosin network formation. Acts downstream of YAP1 and inhibits actin polymerization, which in turn reduces nuclear localization of YAP1 (PubMed:25778702). Regulates cell shape, spreading, and migration (PubMed:21865595)., [UniProtKB, PubMed, PubMed]; This study revealed that lncRNA CDKN2BAS promotes HCC metastasis by regulating the miR-153-5p/ARHGAP18 signaling., [RefSeq, PubMed]; YAP and the RhoC regulator ARHGAP18, are required to mediate flow-dependent endothelial cell alignment. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "reported_mutagensis": 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": "E1P575;Q58EZ3;Q6P679;Q6PJD7;Q96S64", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001726 ruffle;GO:0005881 cytoplasmic microtubule", "go_biological_process": "GO:0032956 regulation of actin cytoskeleton organization;GO:0051056 regulation of small GTPase mediated signal transduction;GO:2000145 regulation of cell motility;GO:0007264 small GTPase-mediated signal transduction;GO:0008360 regulation of cell shape", "synthesized_glycan_count": 0, "hit_score": 21.6, "record_id": "Q8N392-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WZ73-1", "uniprot_id": [ { "id": "RFFL_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WZ73", "type": "external" } ], "mass": 40514.0, "length": 363, "protein_name": "E3 ubiquitin-protein ligase rififylin", "gene_name": "RFFL", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase rififylin", "refseq_ac": [ { "id": "NP_001017368", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017368", "type": "external" } ], "gene_names_uniprotkb": "RFFL; RNF189; RNF34L", "gene_names_refseq": "CARP-2; CARP2; FRING; RFFL; RIFIFYLIN; RNF189; RNF34L", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase rififylin; 2.3.2.27; CARP-2; Caspase regulator CARP2; Caspases-8 and -10-associated RING finger protein 2; FYVE-RING finger protein Sakura; Fring; RING finger and FYVE-like domain-containing protein 1; RING finger protein 189; RING finger protein 34-like; RING-type E3 ubiquitin transferase rififylin", "protein_names_refseq": "E3 ubiquitin-protein ligase rififylin; FYVE-RING finger protein SAKURA; RING finger and FYVE-like domain-containing protein 1; RING finger protein 189; RING-type E3 ubiquitin transferase rififylin; caspase 8 and 10 associated RING protein-2; caspase regulator CARP2; caspases-8 and -10-associated RING finger protein 2; ring finger and FYVE-like domain containing 1", "tax_id": 9606, "disease": "hypertension (Disease Ontology:DOID:10763)", "pathway": " (hsa:117584); (R-HSA-6804757)", "pathway_count": 2, "publication_count": 70, "publication_id_list": "10608892;10722742;10980695;10980696;11237011;11359766;11504915;11923872;11983168;14507994;15053880;15069192;15302935;1535557;15576038;15788536;15916963;1614537;16163388;16402859;16474402;16845383;17081983;17121812;18083107;18382127;18450452;18452278;18578522;18669648;19415658;19651622;19690332;19756449;19816404;19838211;19901323;20058876;20068231;20166139;20438709;20713061;21730132;21730163;21986495;22609986;24275569;28514659;28827789;28832583;29242379;30401747;30659120;31217245;31844290;32350084;32387766;32983136;33912179;33968037;34357683;35051231;38367666;7686617;7784084;7957050;8319905;8479525;8887688;8954786", "class_list": "", "function": "E3 ubiquitin ligase rififylin has yin and yang effects on rabbit cardiac transient outward potassium currents (Ito) and corresponding channel proteins., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that regulates several biological processes through the ubiquitin-mediated proteasomal degradation of various target proteins. Mediates 'Lys-48'-linked polyubiquitination of PRR5L and its subsequent proteasomal degradation thereby indirectly regulating cell migration through the mTORC2 complex. 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. Negatively regulates the tumor necrosis factor-mediated signaling pathway through targeting of RIPK1 to ubiquitin-mediated proteasomal degradation. Negatively regulates p53/TP53 through its direct ubiquitination and targeting to proteasomal degradation. Indirectly, may also negatively regulate p53/TP53 through ubiquitination and degradation of SFN. May also play a role in endocytic recycling., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; It is interesting to note that a human lncRNA does exist within the 5'-UTR intronic region of the human RFFL gene . Given the rat data, our study may serve as a translational foundation for considering this human lncRNA as a candidate regulator for cardiovascular diseases. Publication Status: Online-Only, [RefSeq, PubMed]; RFFL is an important regulator of voltage-gated hERG potassium channel activity and therefore cardiac repolarization and that this ubiquitination-mediated regulation requires parts of the ERAD pathway., [RefSeq, PubMed]; The integral function of the endocytic recycling compartment is regulated by RFFL-mediated ubiquitylation of Rab11 effectors. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 7, "reported_mutagensis": 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": "E1P633;Q8NHW0;Q8TBY7;Q96BE6", "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:0002020 protease binding;GO:0008270 zinc ion binding;GO:0019901 protein kinase binding;GO:0031625 ubiquitin protein ligase binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0010762 regulation of fibroblast migration;GO:0006915 apoptotic process;GO:1901796 regulation of signal transduction by p53 class mediator;GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0010804 negative regulation of tumor necrosis factor-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q8WZ73-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92546-1", "uniprot_id": [ { "id": "RGP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92546", "type": "external" } ], "mass": 42455.0, "length": 391, "protein_name": "RAB6A-GEF complex partner protein 2", "gene_name": "RGP1", "organism": "Human", "refseq_name": "RAB6A-GEF complex partner protein 2", "refseq_ac": [ { "id": "NP_001073965", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073965", "type": "external" } ], "gene_names_uniprotkb": "RGP1; KIAA0258", "gene_names_refseq": "KIAA0258; RGP1", "protein_names_uniprotkb": "RAB6A-GEF complex partner protein 2; Retrograde Golgi transport protein RGP1 homolog", "protein_names_refseq": "RAB6A-GEF complex partner protein 2; RGP1 homolog, RAB6A GEF complex partner 1; RGP1 retrograde golgi transport homolog; retrograde Golgi transport protein RGP1 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:9827); (R-HSA-6811438); (R-HSA-6811440); (R-HSA-8876198)", "pathway_count": 4, "publication_count": 307, "publication_id_list": "10189370;10209123;10445031;10559959;10637310;10652308;10652516;10818110;10865125;10990452;11038176;11179213;11303027;11346801;11359012;11516400;11689439;11703925;11718716;11746448;11748249;11784320;11827983;11839770;11917121;12011112;12058051;12070132;12221131;12244319;12364329;12377769;12383348;12427552;12429822;12475894;12620188;12620189;12684051;12944476;12972505;14580338;14718928;15029241;15037235;15077113;15077114;15096524;15128430;15138286;1516130;15247254;15269279;15388334;15483056;15504911;15528189;15561770;15654769;15692570;15718469;15728195;15758030;15870108;15878329;15914536;15958533;16042553;16129887;16207721;16373702;16410077;16525024;16525121;16571673;16571679;16641372;16754960;16880209;16885419;16912714;16936697;16950109;17043139;17132146;17189207;17208202;17239822;17274799;17287728;17451557;17488286;17488291;17562788;17574030;17646400;17671165;17678623;17684057;17698061;18076383;18086915;18094055;18195106;18243103;18256213;18354496;18367545;18451304;1845915;18477474;18559336;18585354;18664496;18701652;18779367;18804435;18946081;1900457;19109890;19164740;19345684;19403694;19490898;19536132;19620288;19656848;19715559;19725050;19729655;19745841;20008558;20154091;20159109;20159556;20163571;20305638;20308558;20404108;20434987;20592283;20685960;20797862;20851765;20874812;20937701;21041651;2115402;21183348;21187289;21216617;21273506;21330364;21421921;21436057;21445324;21458671;21532587;21554507;21586568;21683469;21689688;21706022;21718402;21776405;21807881;21951725;22013193;22065758;22072793;22171327;22188167;22335553;22354037;22365832;22433857;22511774;22581368;22595670;22622570;22648168;22653444;22705394;22717455;22762500;22908308;22983554;23084991;23091056;23147242;23176487;23176493;23220125;23239882;23247405;23263280;23295650;23333653;23351085;23357852;23378023;23378591;23420520;23437303;23444368;23462996;23478338;23645161;23678941;23684622;23713133;23839779;23936529;23940353;24119662;24296415;24644286;24694596;24719330;24794632;24891604;24917561;24967941;25074980;25341920;25343031;25418920;25472813;25576301;25645385;25648148;25708460;25713415;25880248;25925668;26055712;26177209;26245486;26434594;26538022;26811146;26925400;26936971;26992070;27041585;27044746;27103185;27246931;27329675;27600516;28832583;28904123;29242379;29393594;29557506;30315122;30410026;30429286;30779550;31154438;31844290;31848261;32157095;32161166;32265295;32350084;32357974;32387766;32938616;32983136;33592498;33968037;33981976;35561310;35580925;36010968;36241641;36284347;7688123;7909812;7911226;8144603;8221884;8408203;8440258;8522602;8620540;8636227;8670882;8863739;8945478;9020086;9020161;9030515;9050864;9136770;9177194;9230071;9244307;9323142;9476900;9510256;9590177;9653114;9707577;9733780;9915833", "class_list": "", "function": "Ric1-Rgp1 complex is a guanine nucleotide exchange factor for the late Golgi Rab6A GTPase and an effector of the medial Golgi Rab33B GTPase., [RefSeq, PubMed]; The RIC1-RGP1 complex acts as a guanine nucleotide exchange factor (GEF), which activates RAB6A by exchanging bound GDP for free GTP and may thereby required for efficient fusion of endosome-derived vesicles with the Golgi compartment. The RIC1-RGP1 complex participates in the recycling of mannose-6-phosphate receptors., [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": 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": "Q5TCV5", "ec_number_list": [], "go_molecular_function": "GO:0005085 guanyl-nucleotide exchange factor activity;GO:0031267 small GTPase binding", "go_cellular_component": "GO:0034066 Ric1-Rgp1 guanyl-nucleotide exchange factor complex;GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0016020 membrane;GO:0032588 trans-Golgi network membrane", "go_biological_process": "GO:0043547 positive regulation of GTPase activity;GO:0042147 retrograde transport, endosome to Golgi;GO:0042177 negative regulation of protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 30.8, "record_id": "Q92546-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96D21-1", "uniprot_id": [ { "id": "RHES_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96D21", "type": "external" } ], "mass": 30366.0, "length": 266, "protein_name": "GTP-binding protein Rhes", "gene_name": "RASD2", "organism": "Human", "refseq_name": "GTP-binding protein Rhes precursor", "refseq_ac": [ { "id": "NP_055125", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055125", "type": "external" } ], "gene_names_uniprotkb": "RASD2; TEM2", "gene_names_refseq": "RASD2; Rhes; TEM2", "protein_names_uniprotkb": "GTP-binding protein Rhes; Ras homolog enriched in striatum; Tumor endothelial marker 2", "protein_names_refseq": "GTP-binding protein Rhes precursor; GTP-binding protein Rhes; Ras homolog enriched in striatum; tumor endothelial marker 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23551)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10947988;11976265;16945334;17556863;19255495;19498170;20068231;26190541;26228524;29393594;30064488;31638189;32157095;34070217;35051231", "class_list": "", "function": "GTPase signaling protein that binds to and hydrolyzes GTP. Regulates signaling pathways involving G protein-coupled receptor and heterotrimeric proteins such as GNB1, GNB2 and GNB3. May be involved in selected striatal competencies, mainly locomotor activity and motor coordination., [UniProtKB, PubMed, PubMed]; Involvement of the Protein Ras Homolog Enriched in the Striatum, Rhes, in Dopaminergic Neurons' Degeneration: Link to Parkinson's Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Results support the hypothesis that Rhes expression is regulated by miRNA and indicate that miR-101 may be a potent modulator of Rhes expression in striatal neurons. Publication Status: Online-Only, [RefSeq, PubMed]; Rhes can interfere with the functional activity of wt and mutated TSHr and with the respective hormone-stimulated cAMP production of FSHr and LHr., [RefSeq, PubMed]; Rhes influences striatal cAMP/PKA-dependent signaling and synaptic plasticity in a gender-sensitive fashion Publication Status: Online-Only, [RefSeq, PubMed]; Rhes is an imidazoline-regulated transcript in pancreatic beta-cells, [RefSeq, PubMed]; Study demonstrated that variation in the gene coding for RASD2 (rs6518956) affects in vivo prefrontal and striatal phenotypes in healthy human subjects that are relevant to schizophrenia, [RefSeq, PubMed]; These regions have been used to design peptides aimed at inhibiting RHES interactions and, therefore, mHtt sumoylation; in turn, these peptides will be used to develop small molecule inhibitors by both rational design and virtual screening of large compound libraries., [RefSeq, PubMed]; This gene belongs to the Ras superfamily of small GTPases and is enriched in the striatum. The encoded protein functions as an E3 ligase for attachment of small ubiquitin-like modifier (SUMO). This protein also binds to mutant huntingtin (mHtt), the protein mutated in Huntington disease (HD). Sumoylation of mHTT by this protein may cause degeneration of the striatum. The protein functions as an activator of mechanistic target of rapamycin 1 (mTOR1), which in turn plays a role in myelination, axon growth and regeneration. Reduced levels of mRNA expressed by this gene were found in HD patients. [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": 3, "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": "O95520;Q5THY8", "ec_number_list": [], "go_molecular_function": "GO:0031681 G-protein beta-subunit binding;GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0045202 synapse", "go_biological_process": "GO:0007165 signal transduction;GO:0007626 locomotory behavior;GO:0051897 positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction;GO:0001963 synaptic transmission, dopaminergic;GO:0033235 positive regulation of protein sumoylation", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q96D21-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWF3-1", "uniprot_id": [ { "id": "RBM4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWF3", "type": "external" } ], "mass": 40314.0, "length": 364, "protein_name": "RNA-binding protein 4", "gene_name": "RBM4", "organism": "Human", "refseq_name": "RNA-binding protein 4 isoform 2", "refseq_ac": [ { "id": "NP_001185772", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185772", "type": "external" } ], "gene_names_uniprotkb": "RBM4; RBM4A", "gene_names_refseq": "LARK; RBM4A; RBM4; ZCCHC21; ZCRB3A", "protein_names_uniprotkb": "RNA-binding protein 4; Lark homolog; RNA-binding motif protein 4a; RNA-binding motif protein 4; hLark", "protein_names_refseq": "RNA-binding motif protein 4a; RNA-binding protein 4 isoform 2; lark homolog; transcriptional coactivator CoAZ; zinc finger CCHC-type and RNA binding motif 3A", "tax_id": 9606, "disease": "", "pathway": " (hsa:5936); (R-HSA-9931510)", "pathway_count": 2, "publication_count": 143, "publication_id_list": "10857746;11237011;12469345;12628928;14750904;15592455;16260624;16777844;16907643;16934801;17081983;17284590;17322306;17932509;17994337;18317514;18669648;18691976;18708123;18767875;19415658;19561594;19664995;1971514;19801630;20068231;21343338;21518792;22898188;23186163;23481700;23527094;23897118;24366607;24715725;25418920;25576301;25645385;25810538;25880248;25892735;26154972;26216489;26375851;26768311;26929215;26992070;27397612;27600516;27846572;27862975;27893789;27920218;28063628;28649982;28832583;28834231;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;29930882;30192525;30315122;30410026;30429286;30524438;30779550;31154438;31217245;31222486;31373491;31530632;31844290;31848261;31998317;32119511;32157095;32265295;32357974;32387766;32502341;32897882;32938616;32938750;32983136;33123756;33141586;33214551;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34357683;34509645;34846842;34932366;35008409;35051231;35132862;35138101;35154160;35254053;35318648;35513511;35561310;35580925;36010968;36241641;36284347;36639375;37080995;37340703;37541260;37548402;37938771;38420804;38665916;39214303;39531497;39534244;40136647;40596516;40914422;9169144", "class_list": "", "function": "A Comprehensive Prognostic and Immune Infiltration Analysis of RBM4 in Pan-Cancer., [RefSeq, PubMed]; Data show that the nuclear matrix protein matrin 3, cytoskeletal motor protein HMP, and the circadian clock protein lark were significantly decreased in fetal Down syndrome brain., [RefSeq, PubMed]; Overexpression of RBM4 promotes acute myeloid leukemia cell differentiation by regulating alternative splicing of TFEB., [RefSeq, PubMed]; RBM4 dictates ESCC cell fate switch from cellular senescence to glutamine-addiction survival through inhibiting LKB1-AMPK-axis. Publication Status: Online-Only, [RefSeq, PubMed]; RBM4 is expressed in the human brain regions affected in tauopathy, including the hippocampus and frontal cortex. RBM4 is involved in tau exon 10 alternative splicing, [RefSeq, PubMed]; RBM4 regulates cellular senescence via miR1244/SERPINE1 axis. Publication Status: Online-Only, [RefSeq, PubMed]; RNA-binding factor involved in multiple aspects of cellular processes like alternative splicing of pre-mRNA and translation regulation. Modulates alternative 5'-splice site and exon selection. Acts as a muscle cell differentiation-promoting factor. Activates exon skipping of the PTB pre-mRNA during muscle cell differentiation. Antagonizes the activity of the splicing factor PTBP1 to modulate muscle cell-specific exon selection of alpha tropomyosin. Binds to intronic pyrimidine-rich sequence of the TPM1 and MAPT pre-mRNAs. Required for the translational activation of PER1 mRNA in response to circadian clock. Binds directly to the 3'-UTR of the PER1 mRNA. Exerts a suppressive activity on Cap-dependent translation via binding to CU-rich responsive elements within the 3'UTR of mRNAs, a process increased under stress conditions or during myocytes differentiation. Recruits EIF4A1 to stimulate IRES-dependent translation initiation in respons to cellular stress. Associates to internal ribosome entry segment (IRES) in target mRNA species under stress conditions. Plays a role for miRNA-guided RNA cleavage and translation suppression by promoting association of AGO2-containing miRNPs with their cognate target mRNAs. Associates with miRNAs during muscle cell differentiation. Binds preferentially to 5'-CGCGCG[GCA]-3' motif in vitro., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The regulated alternative splicing of alpha-TM by the antagonistic splicing regulators RBM4 and PTB, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 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": 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": 6, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 21, "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": "B3KUN0;B4E1U0;E7EQS3;O02916;Q4VC48;Q6P1P2;Q8WU85", "ec_number_list": [], "go_molecular_function": "GO:0097157 pre-mRNA intronic binding;GO:0097158 pre-mRNA intronic pyrimidine-rich binding;GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0016607 nuclear speck", "go_biological_process": "GO:0046685 response to arsenic-containing substance;GO:0002190 cap-independent translational initiation;GO:0032055 negative regulation of translation in response to stress;GO:0006396 RNA processing;GO:0006397 mRNA processing", "synthesized_glycan_count": 0, "hit_score": 15.8, "record_id": "Q9BWF3-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H310-1", "uniprot_id": [ { "id": "RHBG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H310", "type": "external" } ], "mass": 49481.0, "length": 458, "protein_name": "Ammonium transporter Rh type B", "gene_name": "RHBG", "organism": "Human", "refseq_name": "ammonium transporter Rh type B isoform b", "refseq_ac": [ { "id": "NP_001243324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243324", "type": "external" } ], "gene_names_uniprotkb": "RHBG", "gene_names_refseq": "RHBG; SLC42A2", "protein_names_uniprotkb": "Ammonium transporter Rh type B; Rh family type B glycoprotein; Rh type B glycoprotein; Rhesus blood group family type B glycoprotein", "protein_names_refseq": "Rhesus blood group, B glycoprotein; ammonium transporter Rh type B isoform b; ammonium transporter Rh type B; solute carrier family 42 member 2", "tax_id": 9606, "disease": "renal tubular acidosis (Disease Ontology:DOID:14219)", "pathway": " (hsa:57127); (R-HSA-444411)", "pathway_count": 2, "publication_count": 12, "publication_id_list": "10852913;11024028;11062476;11237011;11861637;15284342;15611082;15929723;18635543;24077989;39052834;9454778", "class_list": "", "function": "Ammonia transporter RhBG initiates downstream signaling and functional responses by activating NFkappaB., [RefSeq, PubMed]; Ammonium transporter involved in the maintenance of acid-base homeostasis. Transports ammonium and its related derivative methylammonium across the basolateral plasma membrane of epithelial cells likely contributing to renal transepithelial ammonia transport and ammonia metabolism. May transport either NH4(+) or NH3 ammonia species predominantly mediating an electrogenic NH4(+) transport (PubMed:15284342, PubMed:15929723, PubMed:24077989). May act as a CO2 channel providing for renal acid secretion (PubMed:24077989)., [UniProtKB, PubMed, PubMed, PubMed]; Phosphorylation and ankyrin-G binding of the C-terminal domain regulate targeting and function of the ammonium transporter RhBG, [RefSeq, PubMed]; RhBG and RhCG facilitate ammonium movement across the plasma membrane; these results favor the hypothesis that these Rh glycoproteins, together with their homolog RhAG, constitute a family of NH3 channels in mammalian cells., [RefSeq, PubMed]; RhBG requires a tyrosine-based signal and ankyrin-G for basolateral targeting and membrane, [RefSeq, PubMed]; This gene encodes one of two non-erythroid members of the Rhesus (Rh) protein family. Non-erythroid Rh protein family members are mainly expressed in the kidney and belong to the methylammonium-ammonium permease/ammonia transporters superfamily. All Rh family proteins are predicted to be transmembrane proteins with 12 membrane spanning domains and intracytoplasmic N- and C-termini. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 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": "A8K475;Q5SZW4;Q5SZW6;Q5SZW7;Q6P193;Q6YJI2;Q6YJI3", "ec_number_list": [], "go_molecular_function": "GO:0008519 ammonium channel activity;GO:0035379 carbon dioxide transmembrane transporter activity;GO:0030506 ankyrin binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0014731 spectrin-associated cytoskeleton", "go_biological_process": "GO:0097272 ammonium homeostasis;GO:0070634 transepithelial ammonium transport;GO:0072488 ammonium transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9H310-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H4K1-1", "uniprot_id": [ { "id": "RIBC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H4K1", "type": "external" } ], "mass": 45427.0, "length": 382, "protein_name": "RIB43A-like with coiled-coils protein 2", "gene_name": "RIBC2", "organism": "Human", "refseq_name": "RIB43A-like with coiled-coils protein 2", "refseq_ac": [ { "id": "NP_056468", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056468", "type": "external" } ], "gene_names_uniprotkb": "RIBC2; C22orf11", "gene_names_refseq": "C22orf11; RIBC2; TRIB", "protein_names_uniprotkb": "RIB43A-like with coiled-coils protein 2", "protein_names_refseq": "RIB43A-like with coiled-coils protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:26150)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "29557506;31844290;32329860;32938616;32983136;33717175;33968037;36010968;36191189;36241641;38253038", "class_list": "", "function": "A common variant rs2272804 in the 5'UTR of RIBC2 inhibits downstream gene expression by creating an upstream open reading frame., [RefSeq, PubMed]; Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating., [UniProtKB, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "A0A087X0F7;Q6ICD0;Q9Y413", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0036126 sperm flagellum;GO:0005879 axonemal microtubule;GO:0160111 axonemal A tubule inner sheath", "go_biological_process": "GO:0030317 flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 1.4, "record_id": "Q9H4K1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NRY4-1", "uniprot_id": [ { "id": "RHG35_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NRY4", "type": "external" } ], "mass": 170514.0, "length": 1499, "protein_name": "Rho GTPase-activating protein 35", "gene_name": "ARHGAP35", "organism": "Human", "refseq_name": "rho GTPase-activating protein 35", "refseq_ac": [ { "id": "NP_004482", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004482", "type": "external" } ], "gene_names_uniprotkb": "ARHGAP35; GRF1; GRLF1; KIAA1722; P190A; p190ARHOGAP", "gene_names_refseq": "ARHGAP35; GRF-1; GRLF1; P190-A; P190A; p190ARhoGAP; p190RhoGAP", "protein_names_uniprotkb": "Rho GTPase-activating protein 35; GRF-1; Glucocorticoid receptor DNA-binding factor 1; Glucocorticoid receptor repression factor 1; Rho GAP p190A; p190-A", "protein_names_refseq": "glucocorticoid receptor DNA-binding factor 1; glucocorticoid receptor repression factor 1; rho GAP p190A; rho GTPase-activating protein 35", "tax_id": 9606, "disease": "", "pathway": " (hsa:2909); (R-HSA-416550); (R-HSA-8849471); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013148); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013405); (R-HSA-9013406); (R-HSA-9013408); (R-HSA-9013409); (R-HSA-9013423); (R-HSA-9696264); (R-HSA-9696270); (R-HSA-9696273)", "pathway_count": 17, "publication_count": 533, "publication_id_list": 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"class_list": "", "function": "ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes., [RefSeq, PubMed]; Diverse p120RasGAP interactions with doubly phosphorylated partners EphB4, p190RhoGAP, and Dok1., [RefSeq, PubMed]; Identification of an inhibitory domain in GTPase-activating protein p190RhoGAP responsible for masking its functional GAP domain., [RefSeq, PubMed]; Rho GTPase-activating protein (GAP) (PubMed:19673492, PubMed:28894085). Binds several acidic phospholipids which inhibits the Rho GAP activity to promote the Rac GAP activity (PubMed:19673492). This binding is inhibited by phosphorylation by PRKCA (PubMed:19673492). Involved in cell differentiation as well as cell adhesion and migration, plays an important role in retinal tissue morphogenesis, neural tube fusion, midline fusion of the cerebral hemispheres and mammary gland branching morphogenesis (By similarity). Transduces signals from p21-ras to the nucleus, acting via the ras GTPase-activating protein (GAP) (By similarity). Transduces SRC-dependent signals from cell-surface adhesion molecules, such as laminin, to promote neurite outgrowth. Regulates axon outgrowth, guidance and fasciculation (By similarity). Modulates Rho GTPase-dependent F-actin polymerization, organization and assembly, is involved in polarized cell migration and in the positive regulation of ciliogenesis and cilia elongation (By similarity). During mammary gland development, is required in both the epithelial and stromal compartments for ductal outgrowth (By similarity). Represses transcription of the glucocorticoid receptor by binding to the cis-acting regulatory sequence 5'-GAGAAAAGAAACTGGAGAAACTC-3'; this function is however unclear and would need additional experimental evidences (PubMed:1894621)., [UniProtKB, PubMed, UniProtKB, UniProtKB, PubMed, PubMed]; The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequences show the presence of three sequence motifs characteristic of a zinc finger and one motif suggestive of a leucine zipper in which 1 cysteine is found instead of all leucines. The GRLF1 enhances the homologous down-regulation of wild-type hGR gene expression. Biochemical analysis suggests that GRLF1 interaction is sequence specific and that transcriptional efficacy of GRLF1 is regulated through its interaction with specific sequence motif. The level of expression is regulated by glucocorticoids. [provided by RefSeq, Jul 2008]., [RefSeq]; The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay., [RefSeq, PubMed]; Tumor-derived ARHGAP35 mutations enhance the Galpha13-Rho signaling axis in human 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": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 47, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 47, "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": "A7E2A4;Q14452;Q9C0E1", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003924 GTPase activity;GO:0005096 GTPase activator activity;GO:0005525 GTP binding;GO:0005543 phospholipid binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton;GO:0036064 ciliary basal body", "go_biological_process": "GO:0050770 regulation of axonogenesis;GO:0097485 neuron projection guidance;GO:0008064 regulation of actin polymerization or depolymerization;GO:0006351 DNA-templated transcription;GO:0010976 positive regulation of neuron projection development", "synthesized_glycan_count": 0, "hit_score": 53.4, "record_id": "Q9NRY4-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NS28-1", "uniprot_id": [ { "id": "RGS18_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NS28", "type": "external" } ], "mass": 27582.0, "length": 235, "protein_name": "Regulator of G protein signaling 18", "gene_name": "RGS18", "organism": "Human", "refseq_name": "regulator of G-protein signaling 18", "refseq_ac": [ { "id": "NP_570138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570138", "type": "external" } ], "gene_names_uniprotkb": "RGS18; RGS13", "gene_names_refseq": "RGS13; RGS18", "protein_names_uniprotkb": "Regulator of G protein signaling 18; RGS18", "protein_names_refseq": "regulator of G-protein signaling 18; regulator of G-protein signalling 13; regulator of G-protein signalling 18", "tax_id": 9606, "disease": "", "pathway": " (hsa:64407); (R-HSA-416476); (R-HSA-418594)", "pathway_count": 3, "publication_count": 58, "publication_id_list": "10191087;10567430;10727532;10861009;11007482;11015615;11042171;11742120;11753430;11955952;12120503;14645010;15951850;16182515;16268778;16339447;16634148;16754659;16923326;18160138;18434541;18515384;18577758;18936096;1905813;22210881;22234696;24244663;2534964;25418920;26154972;26992070;2748346;27862975;2834384;2841328;28832583;29493099;29557506;30117167;30429286;3086311;31154438;31848261;32319632;32983136;33123756;33298915;33717175;35051231;35494241;38214344;7937899;8015379;8406495;8664309;9305846;9770463", "class_list": "", "function": "Association between KCNQ2, TCF4 and RGS18 polymorphisms and silent brain infarction based on wholeexome sequencing., [RefSeq, PubMed]; Data show that bothregulator of G protein signaling (RGS16 and RGS18) inhibit protease-activated receptor 2 (PAR2)/G-protein, Gi-Go subunits (Galphai/o) -mediated signaling., [RefSeq, PubMed]; Data show that that SPL/RGS/SHP1 complexes are present in resting platelets where constitutive phosphorylation of SPL(Y398) creates an atypical binding site for SHP-1., [RefSeq, PubMed]; Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i) alpha-1, G(i) alpha-2, G(i) alpha-3 and G(q) alpha., [UniProtKB, PubMed, PubMed]; Molecular cloning and characterization of RGS18 as a regulator of G protein signalling in human platelets, [RefSeq, PubMed]; Regulator of G protein signalling 18 promotes osteocyte proliferation by activating the extracellular signal-regulated kinase signalling pathway., [RefSeq, PubMed]; These findings indicate cross-talk between platelet activation and inhibition pathways at the level of RGS18 and Gq., [RefSeq, PubMed]; This gene encodes a member of the regulator of G-protein signaling family. This protein is contains a conserved, 120 amino acid motif called the RGS domain. 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. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B2RD23", "ec_number_list": [], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009898 cytoplasmic side of plasma membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0045744 negative regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9NS28-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVN3-5", "uniprot_id": [ { "id": "RIC8B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVN3", "type": "external" } ], "mass": 58825.0, "length": 520, "protein_name": "Chaperone Ric-8B", "gene_name": "RIC8B", "organism": "Human", "refseq_name": "chaperone Ric-8B isoform 1", "refseq_ac": [ { "id": "NP_001317074", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317074", "type": "external" } ], "gene_names_uniprotkb": "RIC8B", "gene_names_refseq": "RIC8B; RIC8; hSyn", "protein_names_uniprotkb": "Chaperone Ric-8B; Brain synembryn; Synembryn-B; hSyn", "protein_names_refseq": "brain synembrin; brain synembryn; chaperone Ric-8B isoform 1; chaperone Ric-8B; resistance to inhibitors of cholinesterase 8 homolog B; synembryn-B", "tax_id": 9606, "disease": "", "pathway": " (hsa:55188)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "12652642;19651622;19690332;20133939;24366607;25576301;25645385;25880248;26154972;26729411;26966186;26992070;27600516;27920218;28832583;28834231;29242379;29393594;29493099;29557506;29632046;29789417;30315122;30779550;31217245;31844290;32157095;32938616;33717175;33981976;34509645;34932366;35051231", "class_list": "", "function": "Chaperone that specifically binds and folds nascent G(s) G-alpha proteins (GNAS and GNAL) prior to G protein heterotrimer formation, promoting their association with the plasma membrane (By similarity). Also acts as a guanine nucleotide exchange factor (GEF) for G(s) proteins by stimulating exchange of bound GDP for free GTP (By similarity). Acts as an important component for odorant signal transduction by mediating GNAL (G(olf)-alpha) folding, thereby promoting-dependent cAMP accumulation in olfactory sensory neurons (By similarity)., [UniProtKB, UniProtKB]; Overexpression of ARMS blocked NGF-mediated secretion, without affecting basal secretion, a decrease in ARMS resulted in potentiation. Similar effects were observed with synembryn-B, a protein that interacts directly with ARMS. Downstream of ARMS and synembryn-B are Galphaq and Trio proteins, which modulate the activity of Rac1 in response to NGF, [RefSeq, PubMed]; Ric-8B plays a critical and specific role in the control of G alpha(s) protein levels by modulating G alpha(s) ubiquitination and positively regulates G(s) signaling, [RefSeq, PubMed]; These data show the existence of functional CREB and C/EBP binding sites in the human RIC8B gene promoter, a particular distribution of these sites and demonstrate a relevant role of CREB in stimulating transcriptional activity of this gene., [RefSeq, PubMed]; We identified a protein member of the synembryn family as one of the interacting proteins in human brain. Gqalpha also interacts with synembryn. Synembryn translocates to the plasma membrane in response to carbachol and isoproterenol., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A2RTZ0;Q4G103;Q6ZRN4;Q86WD3", "ec_number_list": [], "go_molecular_function": "GO:0001965 G-protein alpha-subunit binding;GO:0005085 guanyl-nucleotide exchange factor activity;GO:0044183 protein folding chaperone", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0005938 cell cortex", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007608 sensory perception of smell;GO:0008277 regulation of G protein-coupled receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q9NVN3-5", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NX52-1", "uniprot_id": [ { "id": "RHBL2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NX52", "type": "external" } ], "mass": 34021.0, "length": 303, "protein_name": "Rhomboid-related protein 2", "gene_name": "RHBDL2", "organism": "Human", "refseq_name": "rhomboid-related protein 2 isoform 2", "refseq_ac": [ { "id": "NP_060291", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060291", "type": "external" } ], "gene_names_uniprotkb": "RHBDL2", "gene_names_refseq": "RHBDL2; RRP2", "protein_names_uniprotkb": "Rhomboid-related protein 2; 3.4.21.105; RRP2; Rhomboid-like protein 2", "protein_names_refseq": "rhomboid (veinlet, Drosophila)-like 2; rhomboid protease 2; rhomboid, veinlet-like 2; rhomboid-like protein 2; rhomboid-related protein 2 isoform 2; rhomboid-related protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54933)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11672525;12820957;15047175;19850051;26109405;32938616;33566379;33968037;35051231;39511359", "class_list": "", "function": "Interleukin-11 (IL-11) receptor cleavage by the rhomboid protease RHBDL2 induces IL-11 trans-signaling., [RefSeq, PubMed]; Regulator of proteosome activity independent of enzymatic activity (PubMed:26109405). Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors (PubMed:11672525, PubMed:15047175). Known substrate: EFNB3 (PubMed:15047175)., [UniProtKB, PubMed, PubMed, PubMed]; Rhomboid-like 2 correlated with TME infiltration inhibits cuproptosis-related genes and drives malignant phenotype in clear cell renal cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate specificity of RHBDL2 intramembrane protease is governed by helix-breaking residues in the transmembrane domain., [RefSeq, PubMed]; The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3., [RefSeq, PubMed]; The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. Two transcript variants encoding different isoforms have been found for this gene. [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": 0, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RNT3;B9EH75;Q6P175;Q8NER8;Q96E02", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006508 proteolysis", "synthesized_glycan_count": 0, "hit_score": 1.1, "record_id": "Q9NX52-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2N2-1", "uniprot_id": [ { "id": "RHG28_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2N2", "type": "external" } ], "mass": 82060.0, "length": 729, "protein_name": "Rho GTPase-activating protein 28", "gene_name": "ARHGAP28", "organism": "Human", "refseq_name": "rho GTPase-activating protein 28 isoform a", "refseq_ac": [ { "id": "NP_001010000", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010000", "type": "external" } ], "gene_names_uniprotkb": "ARHGAP28; KIAA1314", "gene_names_refseq": "ARHGAP28", "protein_names_uniprotkb": "Rho GTPase-activating protein 28; Rho-type GTPase-activating protein 28", "protein_names_refseq": "rho GTPase-activating protein 28 isoform a; rho-type GTPase-activating protein 28", "tax_id": 9606, "disease": "allergic disease (Disease Ontology:DOID:1205); meningioma (Disease Ontology:DOID:3565)", "pathway": " (hsa:79822); (R-HSA-8980692)", "pathway_count": 2, "publication_count": 163, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11237011;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12531887;12650940;12857875;12877655;14512443;15023524;15064355;15107133;15302923;15342493;15485661;15601624;15611138;15850391;15866170;16112081;16116428;16184169;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;17077126;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18829452;19494238;19605563;19635168;19673492;19713215;20030946;20101212;20400958;20591975;20628200;20660154;21148482;21351730;21454492;21565175;21699497;21865595;21936715;22096251;22298643;22305756;22673745;22911862;22992742;23200924;23255595;23434736;23481700;23572525;23870313;24086303;24128008;24259668;24335996;24352656;24832863;24933155;25211221;25704760;26371245;26529257;26887924;26992070;27145964;27216196;27481945;27986909;28112683;28196833;28584191;29146911;29557506;29671580;31105010;31871319;32203420;32938616;33968037;35051231;36010968;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": "GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state., [UniProtKB, UniProtKB, UniProtKB]; The results of this study provide evidence that there are common variants within this protein that contribute to the risk for a general liability to substance dependence, [RefSeq, PubMed]; These data suggest that the regulation of Rho by RhoGAPs, including Arhgap28, during the assembly and development of mechanically strong tissues is complex and may involve multiple RhoGAPs. 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": 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": 16, "reported_interactions": 0, "missing_score": 8577, "biomarker_type": "", "glycan_count": 2, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8MQB7;A8MU88;Q6P160;Q8N4T3;Q9NW53", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0051497 negative regulation of stress fiber assembly;GO:0030833 regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 16.7, "record_id": "Q9P2N2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGC7-1", "uniprot_id": [ { "id": "RF1ML_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGC7", "type": "external" } ], "mass": 43600.0, "length": 380, "protein_name": "Peptide chain release factor 1-like, mitochondrial", "gene_name": "MTRF1L", "organism": "Human", "refseq_name": "peptide chain release factor 1-like, mitochondrial isoform 3", "refseq_ac": [ { "id": "NP_001107656", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001107656", "type": "external" } ], "gene_names_uniprotkb": "MTRF1L; MTRF1A", "gene_names_refseq": "HMRF1L; MRF1L; MTRF1L; mtRF1a", "protein_names_uniprotkb": "Peptide chain release factor 1-like, mitochondrial; Mitochondrial translational release factor 1-like; mtRF1a", "protein_names_refseq": "mitochondrial release factor 1 like; mitochondrial translational release factor 1 like; peptide chain release factor 1-like, mitochondrial isoform 3; peptide chain release factor 1-like, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:54516); (R-HSA-5419276)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "11237011;17287340;17803939;18429816;18541145;18782833;18978678;19716793;20075246;20186120;20877624;22172991;25233460;27862975;28228285;28832583;28904123;29786170;30315122;31844290;31848261;32357974;32387766;32488085;32502341;32938616;33141586;33298915;33537174;33878294;33936100;33968037;34171305;34357683;34405274;34509645;34561969;35051231;35260756;35580925;36284347;36302763;36596788;37141370", "class_list": "", "function": "Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain termination codons UAA and UAG., [UniProtKB, PubMed, PubMed, PubMed]; MtRF1a is a mitochondrial translation release factor that is capable in vitro and in vivo of terminating translation at UAA/UAG codons., [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]; Study identified a human mitochondrial release factor candidate, HMRF1L, and demonstrated that HMRF1L is indeed a mitochondrial protein that functions specifically as an RF for the decoding of mitochondrial UAA and UAG termination codons in vitro., [RefSeq, PubMed]; The methylation of HMRF1L by HMPrmC in human mitochondria is involved in the control of the translation termination process., [RefSeq, PubMed]; The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the final tRNA, the ribosome, and the cognate mRNA. This protein acts upon UAA and UAG stop codons, but has no in vitro activity against UGA, which encodes tryptophan in human mitochondrion, or, the mitochondrial non-cognate stop codons, AGA and AGG. This protein shares sequence similarity to bacterial release factors. Pseudogenes of this gene are found on chromosomes 4, 8, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 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": 2, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KTA0;Q3KR06;Q5TF44;Q5TF50;Q96CC5;Q96EX4;Q96K40", "ec_number_list": [], "go_molecular_function": "GO:0003747 translation release factor activity;GO:0016149 translation release factor activity, codon specific", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0005737 cytoplasm", "go_biological_process": "GO:0070126 mitochondrial translational termination", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q9UGC7-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NIZ1-1", "uniprot_id": [ { "id": "RP1BL_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NIZ1", "type": "external" } ], "mass": 20925.0, "length": 184, "protein_name": "Ras-related protein Rap-1b-like protein", "gene_name": "RAP1BL", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RAP1BL", "gene_names_refseq": "", "protein_names_uniprotkb": "Ras-related protein Rap-1b-like protein; 3.6.5.2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 11, "publication_id_list": "16307016;27452731;27846572;29493099;31844290;32350084;32357974;32488085;32502341;34357683;37938771", "class_list": "", "function": "Probable GTP-binding protein with intrinsic GTPase 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": "", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "3.6.5.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.4", "type": "external" }, { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.15", "type": "external" }, { "id": "3.6.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.6", "type": "external" }, { "id": "3.6.1.42", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.42", "type": "external" } ], "go_molecular_function": "GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0003925 G protein activity", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:2000301 negative regulation of synaptic vesicle exocytosis;GO:0061028 establishment of endothelial barrier;GO:0032486 Rap protein signal transduction;GO:0071320 cellular response to cAMP", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "A6NIZ1-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TA86-1", "uniprot_id": [ { "id": "RP9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TA86", "type": "external" } ], "mass": 26107.0, "length": 221, "protein_name": "Retinitis pigmentosa 9 protein", "gene_name": "RP9", "organism": "Human", "refseq_name": "retinitis pigmentosa 9 protein", "refseq_ac": [ { "id": "NP_976033", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_976033", "type": "external" } ], "gene_names_uniprotkb": "RP9", "gene_names_refseq": "PAP-1; PAP1; RP9", "protein_names_uniprotkb": "Retinitis pigmentosa 9 protein; PAP-1; Pim-1-associated protein", "protein_names_refseq": "Pim-1 kinase associated protein; pim-1-associated protein; retinitis pigmentosa 9 (autosomal dominant); retinitis pigmentosa 9 protein", "tax_id": 9606, "disease": "retinitis pigmentosa 9 (Disease Ontology:DOID:0110387)", "pathway": " (hsa:6100)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "10931201;11237011;12032732;15556297;20801516;27846572;32157095;32502341;33141586;33298915;33912179", "class_list": "", "function": "Is thought to be a target protein for the PIM1 kinase. May play some roles in B-cell proliferation in association with PIM1 (By similarity)., [UniProtKB]; Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa, [RefSeq, PubMed]; Observational study of genetic testing. (HuGE Navigator), [RefSeq, PubMed]; The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005785 signal recognition particle receptor complex;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0050890 cognition;GO:0008380 RNA splicing", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q8TA86-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7C7-1", "uniprot_id": [ { "id": "RN148_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7C7", "type": "external" } ], "mass": 34397.0, "length": 305, "protein_name": "RING finger protein 148", "gene_name": "RNF148", "organism": "Human", "refseq_name": "RING finger protein 148 precursor", "refseq_ac": [ { "id": "NP_932351", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_932351", "type": "external" } ], "gene_names_uniprotkb": "RNF148", "gene_names_refseq": "RNF148", "protein_names_uniprotkb": "RING finger protein 148", "protein_names_refseq": "RING finger protein 148 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:378925)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;19562805;24089095;24715725;34087483;35831855;38190483", "class_list": "", "function": "E3 ubiquitin ligase RNF148 functions as an oncogene in colorectal cancer by ubiquitination-mediated degradation of CHAC2., [RefSeq, PubMed]; We identified a novel human testicular interstitial gene and observed that histone deacetylases regulate RNF148 expression. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A4D0X4;Q8N308", "ec_number_list": [], "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:0016020 membrane;GO:0005770 late endosome", "go_biological_process": "GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8N7C7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P05423-1", "uniprot_id": [ { "id": "RPC4_HUMAN", "url": "https://www.uniprot.org/uniprot/P05423", "type": "external" } ], "mass": 44396.0, "length": 398, "protein_name": "DNA-directed RNA polymerase III subunit RPC4", "gene_name": "POLR3D", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase III subunit RPC4", "refseq_ac": [ { "id": "NP_001713", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001713", "type": "external" } ], "gene_names_uniprotkb": "POLR3D; BN51T; BN51", "gene_names_refseq": "BN51T; C53; POLR3D; RPC4; RPC53; TSBN51", "protein_names_uniprotkb": "DNA-directed RNA polymerase III subunit RPC4; DNA-directed RNA polymerase III subunit D; Protein BN51; RNA polymerase III 47 kDa subunit; RNA polymerase III subunit C4; RPC53 homolog", "protein_names_refseq": "BN51 (BHK21) temperature sensitivity complementing; DNA-directed RNA polymerase III 47 kDa polypeptide; DNA-directed RNA polymerase III subunit D; DNA-directed RNA polymerase III subunit RPC4; RNA polymerase III 47 kDa subunit; RNA polymerase III subunit C4; RPC53 homolog; polymerase (RNA) III (DNA directed) polypeptide D, 44kDa; polymerase (RNA) III subunit D; temperature sensitive complementation, cell cycle specific, tsBN51", "tax_id": 9606, "disease": "", "pathway": " (hsa:661); (R-HSA-1834949); (R-HSA-73780); (R-HSA-73980); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066); (R-HSA-76071)", "pathway_count": 8, "publication_count": 71, "publication_id_list": "10421633;11056176;11118217;11237011;11279001;11419933;11463379;12381659;12391170;17081983;19158675;19158676;19158679;1946469;19609254;19631370;20068231;20413673;21398614;23186163;23251783;23388631;2404611;24129315;25218447;25576301;25645385;25755297;25772364;26375851;27920218;28063628;28904123;29493099;29557506;29632046;30379171;30429286;31844290;32157095;32387766;32488085;32502341;32938616;32983136;33335104;33558764;33558766;33592498;33674783;33968037;34087483;34675218;35051231;35580925;35637192;36284347;3683386;7568218;7891697;7995525;8035818;8308883;8407894;8423814;9003788;9171375;9234698;9312031;9418884;9660958", "class_list": "", "function": "DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:12391170, PubMed:20413673, PubMed:33558764, PubMed:34675218, PubMed:35637192). Specific peripheric component of RNA polymerase III (Pol III) which synthesizes small non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci. Assembles with POLR3E/RPC5 forming a subcomplex that binds the Pol III core. Enables recruitment of Pol III at transcription initiation site and drives transcription initiation from both type 2 and type 3 DNA promoters. Required for efficient transcription termination and reinitiation (By similarity) (PubMed:12391170, PubMed:20413673, PubMed:35637192). Pol III plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF-kappa-B through the RIG-I pathway (PubMed:19609254, PubMed:19631370)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed]; This gene complements a temperature-sensitive mutant isolated from the BHK-21 Syrian hamster cell line. It leads to a block in progression through the G1 phase of the cell cycle at nonpermissive temperatures. [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": 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": "Q6FI28;Q9BPV7;Q9BPZ1;Q9BXB3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003682 chromatin binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0005666 RNA polymerase III complex", "go_biological_process": "GO:0042797 tRNA transcription by RNA polymerase III;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0006383 transcription by RNA polymerase III;GO:0006386 termination of RNA polymerase III transcription", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "P05423-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "E7ERA6-1", "uniprot_id": [ { "id": "RN223_HUMAN", "url": "https://www.uniprot.org/uniprot/E7ERA6", "type": "external" } ], "mass": 26629.0, "length": 249, "protein_name": "RING finger protein 223", "gene_name": "RNF223", "organism": "Human", "refseq_name": "RING finger protein 223", "refseq_ac": [ { "id": "NP_001192181", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001192181", "type": "external" } ], "gene_names_uniprotkb": "RNF223", "gene_names_refseq": "RNF223", "protein_names_uniprotkb": "RING finger protein 223", "protein_names_refseq": "RING finger protein 223", "tax_id": 9606, "disease": "", "pathway": " (hsa:401934)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "35051231", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "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": "B4DKI4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "E7ERA6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75116-1", "uniprot_id": [ { "id": "ROCK2_HUMAN", "url": "https://www.uniprot.org/uniprot/O75116", "type": "external" } ], "mass": 160900.0, "length": 1388, "protein_name": "Rho-associated protein kinase 2", "gene_name": "ROCK2", "organism": "Human", "refseq_name": "rho-associated protein kinase 2 isoform 2", "refseq_ac": [ { "id": "NP_001308572", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308572", "type": "external" } ], "gene_names_uniprotkb": "ROCK2; KIAA0619", "gene_names_refseq": "ROCK-II; ROCK2", "protein_names_uniprotkb": "Rho-associated protein kinase 2; 2.7.11.39; ROCK-II; Rho kinase 2; Rho-associated, coiled-coil-containing protein kinase 2; Rho-associated, coiled-coil-containing protein kinase II; p164 ROCK-2", "protein_names_refseq": "p164 ROCK-2; rho-associated protein kinase 2 isoform 2; rho-associated, coiled-coil-containing protein kinase II", "tax_id": 9606, "disease": "primary biliary cholangitis (Disease Ontology:DOID:12236)", "pathway": " (hsa:9475); (R-HSA-3928662); (R-HSA-3928663); (R-HSA-416482); (R-HSA-416572); (R-HSA-4420097); (R-HSA-5627117); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9013106); (R-HSA-9013407); (R-HSA-9013422); (R-HSA-9679191)", "pathway_count": 13, "publication_count": 414, "publication_id_list": "10037681;10037737;10075701;10087012;10207622;10219243;10232922;10395673;10490598;10523665;10523675;10526156;10579713;10579722;10619026;10652353;10677529;10692392;10699171;10744763;10749680;10769020;10873388;10995436;11007481;11018042;11058585;11085924;11134074;11179879;11207612;11237011;11278486;11283606;11294240;11313914;11331307;11368848;11373293;11396949;11431473;11432776;11580899;11606631;11672528;11680691;11689693;11695992;11696015;11704860;11742120;11747816;11804587;11804589;11804590;11809807;11884391;11912491;11942626;12071859;12093360;12101119;12123608;12134158;12185584;12195014;12196628;12214271;12215529;12220504;12221077;12221096;12391143;12433842;12464388;12473120;12515866;12531887;12546821;12650940;12660731;12702722;12730235;12778124;12810700;12820653;12857875;12877655;14512443;14724572;14988728;15023524;15026417;15064355;15107133;15210733;15247219;15302923;15302935;15308668;15342493;15378065;15485661;15548136;15601624;15611138;15688067;15695828;15699075;15721239;15749160;15848799;15850391;15866170;15944396;15951850;15962004;16112081;16115318;16116428;16184169;16212495;16217026;16219803;16298995;16336962;16467373;16519628;16522641;16574662;16630611;16760434;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16923326;16966330;17015463;17028588;17030947;17064668;17077126;17081983;17151359;17198702;17199126;17237347;17293873;17322306;17344846;17440041;17446864;17525332;17548511;17562871;17662961;17686471;17702745;17765681;17804252;17932950;17942708;17976533;18025083;18158243;18212344;18218625;18374420;18559669;18577758;18669648;18691976;18707149;18802007;18829452;18835386;19099536;19131646;19212140;19230644;19267251;19494238;19553453;19605563;19635168;19673492;19690332;19713215;19997641;20030946;20068231;20101212;20112406;20184954;20223979;20230755;20400958;20591975;20628200;20658524;20660154;20803696;20826462;20851766;20939434;21084279;21147781;21148482;21351730;21373644;21406692;21445309;21454492;21565175;21576392;21699497;21757538;21865595;21936715;2201922;22096251;22298643;22305756;22327215;22401777;22424782;22552008;22661716;22673745;22689825;22790947;22814904;22911862;22992742;23186163;23200924;23216836;23255595;23301498;23434736;23572525;23641311;23870313;24086303;24128008;24259668;24272870;24335996;24352656;24584101;24608665;24610576;24715725;24933155;25211221;25414122;25425145;25576301;25645385;25673874;25704760;25801024;26002965;26154972;26371245;26375851;26529257;26887924;26992070;27072905;27145964;27216196;27314390;27399334;27481945;27600516;27846572;27986909;28112683;28196833;28218747;28228285;28425720;28584191;28832583;28834231;28904123;28956212;29146911;29242379;29493099;29508533;29510700;29557506;29632711;2966156;29769354;29786170;29945920;30007591;30201761;30315122;30379171;30410026;30429286;30524438;30833945;30896450;31048504;31092671;31105010;31154438;31217245;31222486;31431478;31530632;31844290;31848261;31871319;32157095;32161166;32203420;32265295;32357974;32387766;32488085;32502341;32647287;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33592498;33633747;33691108;33912179;33968037;34171305;34211107;34509645;34561969;34932366;35051231;35254053;35494241;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37393345;37748665;37873881;37938771;38199985;38253038;3839510;38665916;7478585;7479768;7509446;7673236;7721814;7753201;7937899;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662509;8662891;8702756;8756646;8769096;8807639;8810315;8816443;8939998;8986718;9013646;9099726;9111050;9113980;9182576;9305890;9308960;9354661;9393975;9398617;9418861;9472046;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9796816;9822605;9829970;9933571", "class_list": "", "function": "Protein kinase which is a key regulator of actin cytoskeleton and cell polarity. Involved in regulation of smooth muscle contraction, actin cytoskeleton organization, stress fiber and focal adhesion formation, neurite retraction, cell adhesion and motility via phosphorylation of ADD1, BRCA2, CNN1, EZR, DPYSL2, EP300, MSN, MYL9/MLC2, NPM1, RDX, PPP1R12A and VIM. Phosphorylates SORL1 and IRF4. Acts as a negative regulator of VEGF-induced angiogenic endothelial cell activation. Positively regulates the activation of p42/MAPK1-p44/MAPK3 and of p90RSK/RPS6KA1 during myogenic differentiation. Plays an important role in the timely initiation of centrosome duplication. Inhibits keratinocyte terminal differentiation. May regulate closure of the eyelids and ventral body wall through organization of actomyosin bundles. Plays a critical role in the regulation of spine and synaptic properties in the hippocampus. Plays an important role in generating the circadian rhythm of the aortic myofilament Ca(2+) sensitivity and vascular contractility by modulating the myosin light chain phosphorylation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; ROCK1/2 signaling contributes to corticosteroid-refractory acute graft-versus-host disease. Publication Status: Online-Only, [RefSeq, PubMed]; SUMOylation of Rho-associated protein kinase 2 induces goblet cell metaplasia in allergic airways. Publication Status: Online-Only, [RefSeq, PubMed]; TIPE2 ameliorates neuroinflammation and cognitive impairment in sepsis-associated encephalopathy through regulating RhoA/ROCK2-NF-kappaB signaling pathway., [RefSeq, PubMed]; The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq, Jul 2008]., [RefSeq]; The role of KDM4A-mediated histone methylation on temozolomide resistance in glioma cells through the HUWE1/ROCK2 axis., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 23, "reported_mutagensis": 1, "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": "Q53QZ0;Q53SJ7;Q9UQN5", "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": "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": "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": "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": "3.1.2.-", "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": "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": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "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": "3.1.4.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.4.4", "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": "2.1.1.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.13", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0072518 Rho-dependent protein serine/threonine kinase activity;GO:0002020 protease binding;GO:0003723 RNA binding;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005813 centrosome;GO:0005829 cytosol;GO:0005856 cytoskeleton", "go_biological_process": "GO:0032723 positive regulation of connective tissue growth factor production;GO:0051893 regulation of focal adhesion assembly;GO:0071559 response to transforming growth factor beta;GO:1902966 positive regulation of protein localization to early endosome;GO:1905205 positive regulation of connective tissue replacement", "synthesized_glycan_count": 0, "hit_score": 42.2, "record_id": "O75116-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N8N0-1", "uniprot_id": [ { "id": "RN152_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N8N0", "type": "external" } ], "mass": 22357.0, "length": 203, "protein_name": "E3 ubiquitin-protein ligase RNF152", "gene_name": "RNF152", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF152", "refseq_ac": [ { "id": "NP_775828", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775828", "type": "external" } ], "gene_names_uniprotkb": "RNF152", "gene_names_refseq": "RNF152", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF152; 2.3.2.27; RING finger protein 152; RING-type E3 ubiquitin transferase RNF152", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF152; RING-type E3 ubiquitin transferase RNF152", "tax_id": 9606, "disease": "", "pathway": " (hsa:220441); (R-HSA-8866654)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10562279;11237011;11740563;15215855;15215856;16307923;16868077;17108083;17130289;17726030;18316726;18359941;18719106;19208625;19410543;19723507;21203937;21329877;21396873;21554508;22021426;24662292;24807418;24979766;25030448;25170678;25576301;25936802;26086376;26210183;26216882;26344566;26350214;26711259;27569044;27597759;27798111;27846572;29557506;30514904;31154438;32486221;33091337;37717980;8625414;8991089", "class_list": "", "function": "E3 ubiquitin-protein ligase that acts as a negative regulator of mTORC1 signaling by mediating ubiquitination of RagA/RRAGA and RHEB (PubMed:25936802, PubMed:30514904). Catalyzes 'Lys-63'-linked polyubiquitination of RagA/RRAGA in response to amino acid starvation, thereby regulating mTORC1 signaling (PubMed:25936802). Also mediates monoubiquitination of RHEB, promoting its association with the TSC-TBC complex and subsequent inhibition (PubMed:30514904). Also mediates 'Lys-48'-linked polyubiquitination of target proteins and their subsequent targeting to the proteasome for degradation (PubMed:21203937). Induces apoptosis when overexpressed (PubMed:21203937)., [UniProtKB, PubMed, PubMed, PubMed]; RNF152 Suppresses Fatty Acid Oxidation and Metastasis of Lung Adenocarcinoma by Inhibiting IRAK1-Mediated AKR1B10 Expression., [RefSeq, PubMed]; The Role of Tissue-Specific Ubiquitin Ligases, RNF183, RNF186, RNF182 and RNF152, in Disease and Biological Function. Review article Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "B3KV99;Q52LA4", "ec_number_list": [ { "id": "2.3.2.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.23", "type": "external" }, { "id": "3.6.5.-", "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:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0031267 small GTPase binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005764 lysosome;GO:0005765 lysosomal membrane;GO:0031090 organelle membrane", "go_biological_process": "GO:0006915 apoptotic process;GO:0010508 positive regulation of autophagy;GO:0016567 protein ubiquitination;GO:0070936 protein K48-linked ubiquitination;GO:0034198 cellular response to amino acid starvation", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "Q8N8N0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00237-1", "uniprot_id": [ { "id": "RN103_HUMAN", "url": "https://www.uniprot.org/uniprot/O00237", "type": "external" } ], "mass": 79405.0, "length": 685, "protein_name": "E3 ubiquitin-protein ligase RNF103", "gene_name": "RNF103", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF103 isoform 2", "refseq_ac": [ { "id": "NP_001185880", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185880", "type": "external" } ], "gene_names_uniprotkb": "RNF103; ZFP103", "gene_names_refseq": "HKF-1; KF-1; KF1; RNF103; ZFP-103; ZFP103", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF103; 2.3.2.27; KF-1; RING finger protein 103; RING-type E3 ubiquitin transferase RNF103; Zfp-103; Zinc finger protein 103 homolog; hKF-1", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF103 isoform 2; E3 ubiquitin-protein ligase RNF103; RING-type E3 ubiquitin transferase RNF103; zinc finger protein 103 homolog; zinc finger protein expressed in cerebellum", "tax_id": 9606, "disease": "depressive disorder (Disease Ontology:DOID:1596)", "pathway": " (hsa:7844); (R-HSA-901032)", "pathway_count": 2, "publication_count": 52, "publication_id_list": "10.1101/2023.09.13.557529;10409699;10500182;10694380;12913004;15713668;16431915;18003979;18264092;18417469;18426978;18615712;18675248;19084021;23232094;25092655;25418920;25576301;27846572;28514659;28649982;28904123;29557506;30315122;30833945;31092671;31154438;31217245;31844290;31848261;32157095;32161166;32350084;32357974;32387766;32938616;32983136;33298915;33392160;33717175;33912179;33968037;34087483;34171305;34185709;35051231;35251023;35318648;35580925;36010968;37938771;9070305", "class_list": "", "function": "Acts as an E2-dependent E3 ubiquitin-protein ligase, probably involved in the ER-associated protein degradation pathway., [UniProtKB, PubMed, PubMed]; Analysis reveals that the main determinants of selectivity between ubiquitin ligases RNF103 and E2 ubiquitin-conjugating enzymes resides on ring domains, rather than on the E2s., [RefSeq, PubMed]; Kf-1 is an ER ubiquitin ligase involved in the endoplasmic reticulum-associated degradation pathway., [RefSeq, PubMed]; The protein encoded by this gene contains a RING-H2 finger, a motif known to be involved in protein-protein and protein-DNA interactions. This gene is highly expressed in normal cerebellum, but not in the cerebral cortex. The expression of the rat counterpart in the frontal cortex and hippocampus was shown to be induced by elctroconvulsive treatment (ECT) as well as chronic antidepressant treatment, suggesting that this gene may be a molecular target for ECT and antidepressants. The protein is a ubiquitin ligase that functions in the endoplasmic reticulum-associated degradation pathway. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream CHMP3 (charged multivesicular body protein 3) gene. [provided by RefSeq, Oct 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 1, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A6NFV6;B2RAG4;Q53SU6;Q8IVB9", "ec_number_list": [ { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.3.2.36", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.36", "type": "external" } ], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane;GO:0044322 endoplasmic reticulum quality control compartment", "go_biological_process": "GO:0007417 central nervous system development;GO:0016567 protein ubiquitination;GO:0036503 ERAD pathway;GO:1904380 endoplasmic reticulum mannose trimming", "synthesized_glycan_count": 0, "hit_score": 5.5, "record_id": "O00237-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75818-1", "uniprot_id": [ { "id": "RPP40_HUMAN", "url": "https://www.uniprot.org/uniprot/O75818", "type": "external" } ], "mass": 41834.0, "length": 363, "protein_name": "Ribonuclease P protein subunit p40", "gene_name": "RPP40", "organism": "Human", "refseq_name": "ribonuclease P protein subunit p40 isoform b", "refseq_ac": [ { "id": "NP_001273061", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273061", "type": "external" } ], "gene_names_uniprotkb": "RPP40; RNASEP1", "gene_names_refseq": "RNASEP1; RPP40; bA428J1.3", "protein_names_uniprotkb": "Ribonuclease P protein subunit p40; RNase P subunit 1; RNaseP protein p40", "protein_names_refseq": "RNase P subunit 1; RNaseP protein p40; ribonuclease P (40 kD); ribonuclease P protein subunit p40 isoform b; ribonuclease P protein subunit p40; ribonuclease P, 40kD subunit; ribonuclease P/MRP 40kDa subunit; ribonuclease P1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10799); (R-HSA-6784531); (R-HSA-6791226)", "pathway_count": 3, "publication_count": 104, "publication_id_list": "10444065;11237011;11455963;11727826;11871657;11922599;12068309;12138183;12150911;12526808;12711671;12729736;15109492;15317868;16037817;16043514;16361254;16710424;16723659;16738141;17189298;17204286;17224653;17353269;17412707;18065403;18226598;18438418;18452278;18809514;18984158;19106111;19332556;19564402;19801658;20038530;20056613;20531386;20798176;20805244;20819938;21036871;21053045;21063389;21097556;21311021;21450806;21559454;21593607;22072790;22190735;22195017;22916032;22944664;23439679;23482395;2388630;24424021;24550520;2470644;24870230;25525153;25576301;25640237;25849199;25892735;25969445;26237581;26992070;27920218;28063628;28115465;28228285;28832583;28834231;28904123;29242379;29393594;29632046;29786170;30315122;30454648;31844290;32157095;32265295;32357974;32387766;32488085;32938616;33298915;33912179;33968037;34171305;35051231;35494241;35580925;36284347;6930639;7759547;7828588;9482744;9512417;9630247;9660920", "class_list": "", "function": "Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5'-ends (PubMed:30454648, PubMed:9630247). Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences (PubMed:28115465)., [UniProtKB, PubMed, PubMed, PubMed]; Data idenified two cleavage sites for RNase MRP/RNase P in the coding sequence of viperin mRNA., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q5VX97;Q8WVK8", "ec_number_list": [], "go_molecular_function": "GO:0004526 ribonuclease P activity;GO:0033204 ribonuclease P RNA binding", "go_cellular_component": "GO:0005655 nucleolar ribonuclease P complex;GO:0030681 multimeric ribonuclease P complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000172 ribonuclease MRP complex", "go_biological_process": "GO:0006396 RNA processing;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:0001682 tRNA 5'-leader removal", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "O75818-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52198-1", "uniprot_id": [ { "id": "RND2_HUMAN", "url": "https://www.uniprot.org/uniprot/P52198", "type": "external" } ], "mass": 25369.0, "length": 227, "protein_name": "Rho-related GTP-binding protein RhoN", "gene_name": "RND2", "organism": "Human", "refseq_name": "rho-related GTP-binding protein RhoN", "refseq_ac": [ { "id": "NP_005431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005431", "type": "external" } ], "gene_names_uniprotkb": "RND2; ARHN; RHO7", "gene_names_refseq": "ARHN; RHO7; RND2; RhoN", "protein_names_uniprotkb": "Rho-related GTP-binding protein RhoN; 3.6.5.2; Rho family GTPase 2; Rho-related GTP-binding protein Rho7; Rnd2", "protein_names_refseq": "CTD-3199J23.4; GTP-binding protein Rho7; ras homolog gene family, member N; rho-related GTP-binding protein Rho7; rho-related GTP-binding protein RhoN", "tax_id": 9606, "disease": "", "pathway": " (hsa:8153); (R-HSA-9696270)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10664463;11940653;12244061;12590651;12842009;14732713;15738000;16481321;18996843;19136556;20811643;24690281;25888806;26969432;29039551;31871319;32157095;32488085;32867814;35051231;35580925;8938427;9531558", "class_list": "", "function": "May be specifically involved in neuronal and hepatic functions. Is a C3 toxin-insensitive member of the Rho subfamily (By similarity)., [UniProtKB]; RND2 attenuates apoptosis and autophagy in glioblastoma cells by targeting the p38 MAPK signalling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; Rho7 expression was increased in the neurons of patients with IE compared with control samples, which indicated that Rho7 may be associated with the progression of IE or act as a potential target for IE treatment., [RefSeq, PubMed]; Socius is a novel Rnd GTPase-interacting protein involved in disassembly of actin stress fibers, [RefSeq, PubMed]; This gene encodes a member of the Rho GTPase family, whose members play a key role in the regulation of actin cytoskeleton organization in response to extracellular growth factors. This particular family member has been implicated in the regulation of neuronal morphology and endosomal trafficking. The gene localizes to chromosome 17 and is the centromeric neighbor of the breast-ovarian cancer susceptibility gene BRCA1. [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": "A8K2D4;O00690;O00734;Q5U0P6;Q99535", "ec_number_list": [ { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.5.3", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.3", "type": "external" }, { "id": "3.6.5.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.5", "type": "external" }, { "id": "3.6.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.5", "type": "external" }, { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "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:0019901 protein kinase binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0002080 acrosomal membrane", "go_biological_process": "GO:0007015 actin filament organization;GO:0007165 signal transduction;GO:0032956 regulation of actin cytoskeleton organization;GO:0007264 small GTPase-mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "P52198-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P52435-1", "uniprot_id": [ { "id": "RPB11_HUMAN", "url": "https://www.uniprot.org/uniprot/P52435", "type": "external" } ], "mass": 13293.0, "length": 117, "protein_name": "DNA-directed RNA polymerase II subunit RPB11-a", "gene_name": "POLR2J", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase II subunit RPB11-a isoform 1", "refseq_ac": [ { "id": "NP_006225", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006225", "type": "external" } ], "gene_names_uniprotkb": "POLR2J; POLR2J1", "gene_names_refseq": "POLR2J1; POLR2J; RPB11A; RPB11m; RPB11; hRPB14", "protein_names_uniprotkb": "DNA-directed RNA polymerase II subunit RPB11-a; DNA-directed RNA polymerase II subunit J-1; RNA polymerase II 13.3 kDa subunit; RNA polymerase II subunit B11-a; RPB11a", "protein_names_refseq": "DNA-directed RNA polymerase II subunit J-1; DNA-directed RNA polymerase II subunit RPB11-a isoform 1; DNA-directed RNA polymerase II subunit RPB11-a; RNA polymerase II 13.3 kDa subunit; RNA polymerase II subunit B11-a; polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa; polymerase (RNA) II subunit J", "tax_id": 9606, "disease": "", "pathway": " (hsa:5439); (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": 584, "publication_id_list": 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"class_list": "", "function": "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., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; POLR2J interacts with three different subunits of eIF3, eIF3a, eIF3i, and eIF3m., [RefSeq, PubMed]; This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene exists as a heterodimer with another polymerase subunit; together they form a core subassembly unit of the polymerase. Two similar genes are located nearby on chromosome 7q22.1 and a pseudogene is found on chromosome 7p13. [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": "A5D6V8;O43375", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046983 protein dimerization activity;GO:0030275 LRR domain binding;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005665 RNA polymerase II, core complex", "go_biological_process": "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": 58.5, "record_id": "P52435-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60153-1", "uniprot_id": [ { "id": "RNAS9_HUMAN", "url": "https://www.uniprot.org/uniprot/P60153", "type": "external" } ], "mass": 24307.0, "length": 205, "protein_name": "Inactive ribonuclease-like protein 9", "gene_name": "RNASE9", "organism": "Human", "refseq_name": "inactive ribonuclease-like protein 9 isoform 1", "refseq_ac": [ { "id": "NP_001103828", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001103828", "type": "external" } ], "gene_names_uniprotkb": "RNASE9", "gene_names_refseq": "HEL128; RAK1; RNASE9; h461", "protein_names_uniprotkb": "Inactive ribonuclease-like protein 9", "protein_names_refseq": "inactive ribonuclease-like protein 9 isoform 1; inactive ribonuclease-like protein 9; ribonuclear enzyme; ribonuclease A K1; ribonuclease, RNase A family, 9 (non-active)", "tax_id": 9606, "disease": "", "pathway": " (hsa:390443)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;15676279;15974301;18992174;19137000", "class_list": "", "function": "Does not exhibit any ribonuclease activity., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; May be involved in host defense, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "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": "A2RQR8;A8QJS1;Q5GAN7;Q6KG53", "ec_number_list": [], "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0050830 defense response to Gram-positive bacterium", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "P60153-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2QD12-1", "uniprot_id": [ { "id": "RPEL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2QD12", "type": "external" } ], "mass": 25023.0, "length": 228, "protein_name": "Ribulose-phosphate 3-epimerase-like protein 1", "gene_name": "RPEL1", "organism": "Human", "refseq_name": "ribulose-phosphate 3-epimerase-like protein 1", "refseq_ac": [ { "id": "NP_001137381", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137381", "type": "external" } ], "gene_names_uniprotkb": "RPEL1", "gene_names_refseq": "RPEL1", "protein_names_uniprotkb": "Ribulose-phosphate 3-epimerase-like protein 1; 5.1.3.1; Ribulose-5-phosphate-3-epimerase-like protein 1", "protein_names_refseq": "hCG2024410; rcRPE protein; ribulose-5-phosphate-3-epimerase-like protein 1; ribulose-phosphate 3-epimerase-like protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:729020); (R-HSA-71336)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "10518023;10869557;11283793;14988808;16201836;17585908;17804405;18186520;18560757;18775706;20923965;22682222;23481700;25229427;2581946;27846572;31844290;32387766;34171305;36194484;38253038;3932573;3994686;7396409;8300619;9357955;9920387", "class_list": "", "function": "Associations of RPEL1 and miR-1307 gene polymorphisms with disease susceptibility, glucocorticoid efficacy, anxiety, depression, and health-related quality of life in Chinese systemic lupus erythematosus patients., [RefSeq, PubMed]; Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate., [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": 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": "", "ec_number_list": [ { "id": "5.1.3.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.1.3.1", "type": "external" } ], "go_molecular_function": "GO:0004750 D-ribulose-phosphate 3-epimerase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005829 cytosol", "go_biological_process": "GO:0009052 pentose-phosphate shunt, non-oxidative branch;GO:0005975 carbohydrate metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q2QD12-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q495C1-1", "uniprot_id": [ { "id": "RN212_HUMAN", "url": "https://www.uniprot.org/uniprot/Q495C1", "type": "external" } ], "mass": 33365.0, "length": 297, "protein_name": "Probable E3 SUMO-protein ligase RNF212", "gene_name": "RNF212", "organism": "Human", "refseq_name": "probable E3 SUMO-protein ligase RNF212 isoform a", "refseq_ac": [ { "id": "NP_001124506", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124506", "type": "external" } ], "gene_names_uniprotkb": "RNF212", "gene_names_refseq": "RNF212; SPGF62; ZHP3", "protein_names_uniprotkb": "Probable E3 SUMO-protein ligase RNF212; 2.3.2.-; Probable E3 SUMO-protein transferase RNF212; RING finger protein 212", "protein_names_refseq": "probable E3 SUMO-protein ligase RNF212 isoform a; probable E3 SUMO-protein ligase RNF212; probable E3 SUMO-protein transferase RNF212", "tax_id": 9606, "disease": "spermatogenic failure (Disease Ontology:DOID:0111910); spermatogenic failure 62 (Disease Ontology:DOID:0112351)", "pathway": " (hsa:285498)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "11237011;15340062;18239089;25645385;29242379;29277047;29557506;31125047;32938616;33968037;35051231;36010968;38838015", "class_list": "", "function": "For the first time, study reports biallelic variants in STAG3, in one sporadic patient, and a homozygous RNF212 variant, in the two brothers, as the genetic cause of non-obstructive azoospermia. Meiotic studies allowed the detection of the functional consequences of the mutations and provided information on the role of STAG3 and RNF212 in human male meiosis. Erratum:[Hum Reprod. 2020 Aug 1;35(8):1945-1946. doi: 10.1093/humrep/deaa179. PMID: 32715309], [RefSeq, PubMed]; Genome search identified sequence variants in the 4p16.3 region correlated with recombination rate in males & females; variants are located in the RNF212 gene, a putative ortholog of ZHP-3 gene essential for recombination & chiasma formation in C elegans GeneRIF: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SUMO E3 ligase that acts as a regulator of crossing-over during meiosis: required to couple chromosome synapsis to the formation of crossover-specific recombination complexes. Localizes to recombination sites and stabilizes meiosis-specific recombination factors, such as MutS-gamma complex proteins (MSH4 and MSH5) and TEX11. May mediate sumoylation of target proteins MSH4 and/or MSH5, leading to enhance their binding to recombination sites. Acts as a limiting factor for crossover designation and/or reinforcement and plays an antagonist role with CCNB1IP1/HEI10 in the regulation of meiotic recombination (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; The polymorphism of SNP rs4045481 in RNF212 gene might be associated with azoospermia and genotype CC of this SNP may be a risk factor of azoospermia., [RefSeq, PubMed]; This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombination rates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]., [RefSeq]; This paper describes a partial transcript of the human RNF212 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "C9J8N0;Q495C0;Q86W82;Q8IY99;Q8N8U7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0019789 SUMO transferase activity", "go_cellular_component": "GO:0000795 synaptonemal complex", "go_biological_process": "GO:0016925 protein sumoylation;GO:0007129 homologous chromosome pairing at meiosis;GO:0007131 reciprocal meiotic recombination;GO:0006311 meiotic gene conversion;GO:0051026 chiasma assembly", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q495C1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5GAN6-1", "uniprot_id": [ { "id": "RNS10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5GAN6", "type": "external" } ], "mass": 24008.0, "length": 216, "protein_name": "Inactive ribonuclease-like protein 10", "gene_name": "RNASE10", "organism": "Human", "refseq_name": "inactive ribonuclease-like protein 10 precursor", "refseq_ac": [ { "id": "NP_001012993", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012993", "type": "external" } ], "gene_names_uniprotkb": "RNASE10", "gene_names_refseq": "RAH1; RNASE10; RNASE9", "protein_names_uniprotkb": "Inactive ribonuclease-like protein 10", "protein_names_refseq": "inactive ribonuclease-like protein 10 precursor; inactive ribonuclease-like protein 10; ribonuclease A H1; ribonuclease, RNase A family, 10 (non-active)", "tax_id": 9606, "disease": "", "pathway": " (hsa:338879)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "15676279", "class_list": "", "function": "Secreted proximal epididymal protein required for post-testicular sperm maturation and male fertility. May be involved in sperm adhesion to the egg zona pellucida. Does not have ribonuclease activity (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A2RUQ3;B4DKY4", "ec_number_list": [], "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "GO:0022409 positive regulation of cell-cell adhesion;GO:0050830 defense response to Gram-positive bacterium;GO:0007338 single fertilization;GO:0034113 heterotypic cell-cell adhesion;GO:1902093 positive regulation of flagellated sperm motility", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "Q5GAN6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VYX0-1", "uniprot_id": [ { "id": "RNLS_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VYX0", "type": "external" } ], "mass": 37847.0, "length": 342, "protein_name": "Renalase", "gene_name": "RNLS", "organism": "Human", "refseq_name": "renalase isoform 1 precursor", "refseq_ac": [ { "id": "NP_001026879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026879", "type": "external" } ], "gene_names_uniprotkb": "RNLS; C10orf59", "gene_names_refseq": "C10orf59; RENALASE; RNLS", "protein_names_uniprotkb": "Renalase; 1.6.3.5; MAO-C; Monoamine oxidase-C", "protein_names_refseq": "MAO-C; alpha-NAD(P)H oxidase/anomerase; monoamine oxidase-C; renalase isoform 1 precursor", "tax_id": 9606, "disease": "glomerulosclerosis (Disease Ontology:DOID:0050851); stroke (Disease Ontology:DOID:0051061); interstitial nephritis (Disease Ontology:DOID:1063); hypertension (Disease Ontology:DOID:10763); essential hypertension (Disease Ontology:DOID:10825); congestive heart failure (Disease Ontology:DOID:6000); end stage renal disease (Disease Ontology:DOID:783); chronic kidney disease (Disease Ontology:DOID:784)", "pathway": " (hsa:55328); (R-HSA-196807)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10331643;10613898;11248244;11594753;11788603;11866528;11991719;12359228;12547821;12574164;12790796;13563527;14516279;14966140;15090606;15137942;15381699;15674325;15841207;16118205;1637327;16385451;16690024;17216203;17385068;17402747;17565281;17604275;17641676;17846126;17868694;17914902;18411268;19531469;20388704;2129526;21504897;21699903;21933152;21994945;22701565;22822066;23212377;23230272;23964689;24717514;24847004;25418920;25531177;27600516;28904123;29557506;29632046;31844290;32157095;32906142;33087354;33592498;33968037;35580925;36241641;37188446;37371077;37840161;38068986;39232213;4349867;8182091;8289818;8527488;8575745;8809081;9473669", "class_list": "", "function": "Catalyzes the oxidation of the less abundant 1,2-dihydro-beta-NAD(P) and 1,6-dihydro-beta-NAD(P) to form beta-NAD(P)(+). The enzyme hormone is secreted by the kidney, and circulates in blood and modulates cardiac function and systemic blood pressure. Lowers blood pressure in vivo by decreasing cardiac contractility and heart rate and preventing a compensatory increase in peripheral vascular tone, suggesting a causal link to the increased plasma catecholamine and heightened cardiovascular risk. High concentrations of catecholamines activate plasma renalase and promotes its secretion and synthesis., [UniProtKB, PubMed, PubMed, PubMed]; Coexistence of Cardiovascular Risk Factors and Blood Renalase Concentration. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; Renalase gene is a novel susceptibility gene for essential hypertension: a two-stage association study in northern Han Chinese population. GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Renalase pathway is a previously unrecognized mechanism for regulating circulating catecholamines & cardiac function, and blood pressure. Abnormalities in the renalase pathway are evident in animal models of chronic kidney disease and hypertension[review] Review article, [RefSeq, PubMed]; Renalase rs2296545 variant improve hypertension susceptibility by modifying binding affinity to catecholamines in obstructive sleep apnea., [RefSeq, PubMed]; Role of serum renalase levels in predicting the presence of metabolic syndrome in patients with polycystic ovary syndrome., [RefSeq, PubMed]; Secreted by the kidney, circulates in blood, and modulates cardiac function and systemic blood pressure GeneRIF: Renalase regulates cardiac function and blood pressure., [RefSeq, PubMed]; The Multi-Faceted Nature of Renalase for Mitochondrial Dysfunction Improvement in Cardiac Disease. Review article Publication Status: Online-Only, [RefSeq, PubMed]; [The association of renalase single-nucleotide polymorphisms rs2576178 and rs10887800 with hypertension in patients with obstructive sleep apnea]., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q9BS33;Q9NUP8", "ec_number_list": [ { "id": "1.6.3.5", "url": "https://www.rhea-db.org/rhea/?query=ec:1.6.3.5", "type": "external" } ], "go_molecular_function": "GO:0097621 monoamine oxidase activity;GO:0051379 epinephrine binding;GO:0016651 oxidoreductase activity, acting on NAD(P)H;GO:0070404 NADH binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0002931 response to ischemia;GO:0045776 negative regulation of blood pressure;GO:0010459 negative regulation of heart rate;GO:0071871 response to epinephrine;GO:1902074 response to salt", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "Q5VYX0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q684P5-1", "uniprot_id": [ { "id": "RPGP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q684P5", "type": "external" } ], "mass": 80056.0, "length": 730, "protein_name": "Rap1 GTPase-activating protein 2", "gene_name": "RAP1GAP2", "organism": "Human", "refseq_name": "rap1 GTPase-activating protein 2 isoform 2", "refseq_ac": [ { "id": "NP_001093868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093868", "type": "external" } ], "gene_names_uniprotkb": "RAP1GAP2; GARNL4; KIAA1039; RAP1GA2", "gene_names_refseq": "GARNL4; RAP1GA3; RAP1GAP2", "protein_names_uniprotkb": "Rap1 GTPase-activating protein 2; GTPase-activating Rap/Ran-GAP domain-like protein 4; Rap1GAP2", "protein_names_refseq": "GTPase activating RANGAP domain-like 4; GTPase activating Rap/RanGAP domain-like 4; GTPase-activating Rap/Ran-GAP domain-like protein 4; rap1 GTPase-activating protein 2 isoform 2; rap1 GTPase-activating protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:23108); (R-HSA-392517)", "pathway_count": 2, "publication_count": 35, "publication_id_list": "11237011;15632203;16964243;18039662;1846040;18669648;19413330;19528539;19690332;20058876;21406692;25576301;26992070;28832583;29242379;29557506;30779550;31844290;32157095;32938616;32983136;33392160;33968037;33981976;34087483;35051231;35561310;35580925;36010968;37938771;38253038;8253074;9115221;9346962;9789079", "class_list": "", "function": "GTPase activator for the nuclear Ras-related regulatory protein RAP-1A (KREV-1), converting it to the putatively inactive GDP-bound state., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Platelet activation by ADP and thrombin enhances serine 9 phosphorylation and increases 14-3-3 binding to endogenous Rap1GAP2., [RefSeq, PubMed]; Rap1GAP2 is the first GTPase-activating protein of Rap1 found in platelets and is likely to have an important regulatory role in platelet aggregation, [RefSeq, PubMed]; Slp1 inhibits dense granule secretion in platelets and that Rap1GAP2 modulates secretion by binding to Slp1., [RefSeq, PubMed]; This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 32, "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": "B2RTY5;Q684P4;Q6AI00;Q6ZVF0;Q9UPW2", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity", "go_cellular_component": "GO:0005813 centrosome;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0030424 axon;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0051056 regulation of small GTPase mediated signal transduction;GO:0002250 adaptive immune response;GO:0008361 regulation of cell size", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q684P5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZSG1-1", "uniprot_id": [ { "id": "ARK2C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZSG1", "type": "external" } ], "mass": 39526.0, "length": 346, "protein_name": "E3 ubiquitin-protein ligase ARK2C", "gene_name": "ARK2C", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase ARK2C isoform 2", "refseq_ac": [ { "id": "NP_001243687", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243687", "type": "external" } ], "gene_names_uniprotkb": "ARK2C; RNF165", "gene_names_refseq": "ARK2C; ARKL2; RNF111L2; RNF165; lncAMPC", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase ARK2C; 2.3.2.27; RING finger protein 165; RNF165", "protein_names_refseq": "E3 ubiquitin-protein ligase ARK2C isoform 2; E3 ubiquitin-protein ligase ARK2C; E3 ubiquitin-protein ligase RNF165; lncRNA activated in metastatic PCa; ring finger protein 165", "tax_id": 9606, "disease": "", "pathway": " (hsa:494470)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;26656854;31154438;31844290;32897882;35051231", "class_list": "", "function": "E3 ubiquitin-protein ligase that acts as a regulator of motor axon elongation. Required for efficient motor axon extension in the dorsal forelimb by enhancing the transcriptional responses of the SMAD1/SMAD5/SMAD8 effectors, which are activated downstream of BMP. Acts by mediating ubiquitination and degradation of SMAD inhibitors such as SMAD6, SMAD7, SKI and SNON isoform of SKIL., [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": 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": "B3KVD1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0032991 protein-containing complex", "go_biological_process": "GO:0030513 positive regulation of BMP signaling pathway;GO:0008045 motor neuron axon guidance", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q6ZSG1-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7F7-1", "uniprot_id": [ { "id": "RM55_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7F7", "type": "external" } ], "mass": 15128.0, "length": 128, "protein_name": "Large ribosomal subunit protein mL55", "gene_name": "MRPL55", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL55 isoform a", "refseq_ac": [ { "id": "NP_001308213", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308213", "type": "external" } ], "gene_names_uniprotkb": "MRPL55; PRO19675", "gene_names_refseq": "AAVG5835; L55nt; MRP-L55; MRPL55; PRO19675; bL31m", "protein_names_uniprotkb": "Large ribosomal subunit protein mL55; 39S ribosomal protein L55, mitochondrial; L55mt; MRP-L55; Mitochondrial large ribosomal subunit protein bL31m", "protein_names_refseq": "39S ribosomal protein L55, mitochondrial; L55mt; large ribosomal subunit protein mL55 isoform a; mitochondrial large ribosomal subunit protein bL31m; mitochondrial large ribosomal subunit protein mL55", "tax_id": 9606, "disease": "", "pathway": " (hsa:128308); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 68, "publication_id_list": "11237011;11551941;12975309;15358359;17803939;18429816;18782833;19524667;19716793;20068231;20186120;20877624;21907147;22172991;2250005;24714562;24715725;25233460;25418920;25576301;25838379;25880248;26154972;26811146;26992070;27023846;27029019;27846572;27862975;28063628;28832583;28834231;28892042;28904123;29242379;29485866;29493099;29508533;29557506;30429286;30833945;31844290;31848261;32157095;32357974;32387766;32502341;32897882;32983136;33141586;33243891;33592498;33717175;33878294;33912179;33936100;33981976;34087483;34211107;34561969;34932366;35561310;35580925;36284347;36302763;36596788;37141370;37217939", "class_list": "", "function": "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. Multiple transcript variants encoding two different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q5TBY3;Q5TBY6;Q6UWI8", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 7.1, "record_id": "Q7Z7F7-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VV4-1", "uniprot_id": [ { "id": "RNB3L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VV4", "type": "external" } ], "mass": 52211.0, "length": 465, "protein_name": "Ran-binding protein 3-like", "gene_name": "RANBP3L", "organism": "Human", "refseq_name": "ran-binding protein 3-like isoform 1", "refseq_ac": [ { "id": "NP_001154901", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001154901", "type": "external" } ], "gene_names_uniprotkb": "RANBP3L", "gene_names_refseq": "RANBP3L", "protein_names_uniprotkb": "Ran-binding protein 3-like", "protein_names_refseq": "ran-binding protein 3-like isoform 1; ran-binding protein 3-like", "tax_id": 9606, "disease": "", "pathway": " (hsa:202151)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11237011;25755279;28787260;29557506;30410026;30429286;31848261;34233711;35051231;35494241;38942763", "class_list": "", "function": "Changes in expression of VGF, SPECC1L, HLA-DRA and RANBP3L act with APOE E4 to alter risk for late onset Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Loss of RANBP3L leads to transformation of renal epithelial cells towards a renal clear cell carcinoma like phenotype. Publication Status: Online-Only, [RefSeq, PubMed]; Nuclear export factor for BMP-specific SMAD1/5/8 that plays a critical role in terminating BMP signaling and regulating mesenchymal stem cell differentiation by blocking osteoblast differentiation to promote myogenic differention. Directly recognizes dephosphorylated SMAD1/5/8 and mediates their nuclear export in a Ran-dependent manner., [UniProtKB, UniProtKB, PubMed]; Results demonstrate that RanBP3L, as a nuclear exporter for BMP-specific Smads, plays a critical role in terminating BMP signaling and regulating mesenchymal stem cell differentiation. Erratum:[Mol Cell Biol. 2017 Aug 11;37(17):e00287-17. doi: 10.1128/MCB.00287-17. PMID: 28801455], [RefSeq, PubMed]; The single nucleotide polymorphism, rs16902947 in RANBP3L at 5p13.2 (p = .01), is significantly associated with Benign Prostate Hyperplasia. Rs16902947 in RANBP3L at 5p13.2 (p = .0388) is associated withalpha-adrenergic receptor antagonist drug effect in Benign Prostate Hyperplasia., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B7Z866;E9PGP9;Q96LK2", "ec_number_list": [], "go_molecular_function": "GO:0046332 SMAD binding", "go_cellular_component": "GO:0005643 nuclear pore;GO:0005737 cytoplasm", "go_biological_process": "GO:1901706 mesenchymal cell differentiation involved in bone development;GO:0045668 negative regulation of osteoblast differentiation;GO:0006611 protein export from nucleus;GO:0045663 positive regulation of myoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q86VV4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IXM3-1", "uniprot_id": [ { "id": "RM41_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IXM3", "type": "external" } ], "mass": 15383.0, "length": 137, "protein_name": "Large ribosomal subunit protein mL41", "gene_name": "MRPL41", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL41", "refseq_ac": [ { "id": "NP_115866", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115866", "type": "external" } ], "gene_names_uniprotkb": "MRPL41; BMRP; MRPL27; PIG3; RPML27", "gene_names_refseq": "BMRP; MRP-L27; MRPL27; MRPL41; PIG3; RPML27; mL41", "protein_names_uniprotkb": "Large ribosomal subunit protein mL41; 39S ribosomal protein L41, mitochondrial; Bcl-2-interacting mitochondrial ribosomal protein L41; Cell proliferation-inducing gene 3 protein; L41mt; MRP-L27 homolog; MRP-L41", "protein_names_refseq": "39S ribosomal protein L27 homolog; 39S ribosomal protein L41, mitochondrial; L41mt; MRP-L27 homolog; MRP-L41; bcl-2-interacting mitochondrial ribosomal protein L41; cell proliferation-inducing gene 3 protein; large ribosomal subunit protein mL41; mitochondrial large ribosomal subunit protein mL41; proliferation-inducing gene 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:64975); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 56, "publication_id_list": "11543634;11551941;15358359;15547950;16024796;16256947;17803939;18429816;18782833;19524667;19716793;20186120;21907147;22172991;2250005;23481700;25233460;25278503;25576301;25838379;26375851;26992070;27029019;27600516;28228285;28832583;28834231;28892042;29242379;29331515;29508533;30315122;30379171;30779550;31844290;31848261;32488085;32502341;32938616;32983136;33141586;33243891;33592498;33717175;33878294;33968037;33981976;34561969;35051231;35177605;35318648;35580925;36302763;36596788;37141370;40596516", "class_list": "", "function": "Component of the mitochondrial ribosome large subunit (PubMed:25278503, PubMed:25838379, PubMed:28892042, PubMed:35177605). Also involved in apoptosis and cell cycle (PubMed:16024796, PubMed:16256947). Enhances p53/TP53 stability, thereby contributing to p53/TP53-induced apoptosis in response to growth-inhibitory condition. Enhances p53/TP53 translocation to the mitochondria. Has the ability to arrest the cell cycle at the G1 phase, possibly by stabilizing the CDKN1A and CDKN1B (p27Kip1) proteins (PubMed:16024796)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the YmL27 ribosomal protein family. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 2, "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": "Q96Q49", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:1990904 ribonucleoprotein complex", "go_biological_process": "GO:0006915 apoptotic process;GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q8IXM3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5U6-1", "uniprot_id": [ { "id": "RNF10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5U6", "type": "external" } ], "mass": 89927.0, "length": 811, "protein_name": "E3 ubiquitin-protein ligase RNF10", "gene_name": "RNF10", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF10 isoform 2", "refseq_ac": [ { "id": "NP_001317403", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001317403", "type": "external" } ], "gene_names_uniprotkb": "RNF10; KIAA0262; RIE2", "gene_names_refseq": "RIE2; RNF10", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF10; 2.3.2.27; RING finger protein 10", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF10 isoform 2; E3 ubiquitin-protein ligase RNF10; epididymis secretory sperm binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:9921)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "10697961;11237011;16335786;18941509;23186163;24715725;25576301;25892735;26758079;26992070;27600516;28218747;28514659;28649982;28832583;28834231;29242379;29393594;29437277;29493099;29557506;29632046;29769354;30315122;30410026;30484775;31844290;31998317;32157095;32938616;32983136;33592498;33912179;33968037;34348161;34469731;35051231;35318648;35580925;36215666;36241641;36284347;36581221;37938771;39609413;39947182;39947183;40022732", "class_list": "", "function": "E3 ubiquitin-protein ligase that catalyzes monoubiquitination of 40S ribosomal proteins RPS2/us5 and RPS3/us3 in response to ribosome stalling (PubMed:34348161, PubMed:34469731, PubMed:39609413, PubMed:39947182, PubMed:39947183, PubMed:40022732). Part of a ribosome quality control that takes place when ribosomes have stalled during translation initiation (iRQC) or elongation (PubMed:34348161, PubMed:34469731, PubMed:39609413, PubMed:39947182, PubMed:39947183, PubMed:40022732). The ribosome quality control is activated in response to ribosome subunit imbalance, amino acid starvation or downstream the EIF2AK4/GCN2-mediated integrated stress response (ISR) (PubMed:39609413, PubMed:39947182, PubMed:39947183, PubMed:40022732). RNF10 acts by mediating monoubiquitination of RPS2/us5 and RPS3/us3: monoubiquitinated RPS2/us5 and RPS3/us3 are then recognized by RIOK3 kinase, leading to 18S non-functional rRNA decay and degradation of the 40S ribosomal subunit (PubMed:34348161, PubMed:34469731, PubMed:39609413, PubMed:39947182, PubMed:39947183, PubMed:40022732). The action of RNF10 in iRQC is counteracted by USP10 (PubMed:34469731)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; MEOX2 and Meox2 binding to RNF10 protein was characterized., [RefSeq, PubMed]; RNF10 is a trans-acting protein regulating MAG expression and is required for myelin formation., [RefSeq, PubMed]; The protein encoded by this gene contains a ring finger motif, which is known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined. EST data suggests the existence of multiple alternatively spliced transcript variants, however, their full length nature is not known. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 3, "reported_glycation": 0, "reported_snv": 21, "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": "Q92550;Q9NPP8;Q9ULW4", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0022626 cytosolic ribosome", "go_biological_process": "GO:0032790 ribosome disassembly;GO:0070651 nonfunctional rRNA decay;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045893 positive regulation of DNA-templated transcription;GO:0051865 protein autoubiquitination", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q8N5U6-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8ND24-1", "uniprot_id": [ { "id": "RN214_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8ND24", "type": "external" } ], "mass": 77667.0, "length": 703, "protein_name": "RING finger protein 214", "gene_name": "RNF214", "organism": "Human", "refseq_name": "RING finger protein 214 isoform 1", "refseq_ac": [ { "id": "NP_001070707", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070707", "type": "external" } ], "gene_names_uniprotkb": "RNF214", "gene_names_refseq": "RNF214", "protein_names_uniprotkb": "RING finger protein 214", "protein_names_refseq": "RING finger protein 214 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:257160)", "pathway_count": 1, "publication_count": 61, "publication_id_list": "11237011;18669648;18767875;19413330;19690332;20068231;22424782;22898188;23186163;23481700;24715725;25576301;25645385;26154972;26992070;27600516;27920218;28228285;28832583;28904123;29242379;29493099;29557506;30315122;30379171;30524438;31154438;31530632;31844290;31848261;31937595;32161166;32357974;32387766;32502341;32938616;33141586;33298915;33392160;33537174;33592498;33912179;33936100;33968037;34019948;34087483;34171305;34211107;34433824;34509645;35051231;35318648;35580925;36010968;36215666;36241641;36284347;37938771;38253038;38665916;39534244", "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": 16, "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": 4, "binding_glycan_count": 0, "secondary_ac_list": "B2RUW0;B4DTD1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q8ND24-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDE3-1", "uniprot_id": [ { "id": "RNAS8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDE3", "type": "external" } ], "mass": 17041.0, "length": 154, "protein_name": "Ribonuclease 8", "gene_name": "RNASE8", "organism": "Human", "refseq_name": "ribonuclease 8 precursor", "refseq_ac": [ { "id": "NP_612204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_612204", "type": "external" } ], "gene_names_uniprotkb": "RNASE8", "gene_names_refseq": "RAE2; RNASE8", "protein_names_uniprotkb": "Ribonuclease 8; 3.1.27.-; RNase 8", "protein_names_refseq": "RNase 8, placental; ribonuclease 8 precursor; ribonuclease 8; ribonuclease, RNase A family, 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:122665); (R-HSA-6803157)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "11120840;11313366;11389039;11861908;11971875;12493837;13816;14506276;14739326;1522221;15229136;15778384;15826377;15956276;16054449;16215847;16336202;16354652;16354654;16374474;16799473;16931762;16940129;17116644;17363965;17502600;17567961;17964057;18021746;18160480;18185531;18673279;19095652;19179970;19254208;19818633;20103720;20180804;20382864;20395631;20510021;20845358;21787330;22262861;22272736;22327069;22455996;22701042;23302724;23426625;23475216;24219363;24256734;25075772;25461571;25596890;26148048;27089320;3286634;9523110;9665269;9756476", "class_list": "", "function": "Has a low ribonuclease activity., [UniProtKB]; Only two single-nucleotide polymorphisms and four unique alleles were identified within the RNase 8 coding sequence. Publication Status: Online-Only, [RefSeq, PubMed]; RNase 8 was identified as a human antimicrobial protein with a broad spectrum activity against pathogenic organisms., [RefSeq, PubMed]; Study shows that both the loss and gain of the cysteines in human RNase 8 occurred in the common ancestor of African great apes (humans, chimps, and gorillas) 7-13 MYA., [RefSeq, PubMed]; The protein encoded by this gene belongs to the pancreatic ribonuclease family, a subset of the ribonuclease A superfamily. The protein is expressed prominently in the placenta and exhibits antimicrobial activity against pathogenic bacteria and fungi. [provided by RefSeq, Oct 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RPP6;B2RPP7", "ec_number_list": [ { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" } ], "go_molecular_function": "GO:0016787 hydrolase activity;GO:0003676 nucleic acid binding;GO:0004540 RNA nuclease activity;GO:0004522 ribonuclease A activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium;GO:0050832 defense response to fungus;GO:0061760 antifungal innate immune response", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q8TDE3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WVZ7-1", "uniprot_id": [ { "id": "RN133_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WVZ7", "type": "external" } ], "mass": 42294.0, "length": 376, "protein_name": "E3 ubiquitin-protein ligase RNF133", "gene_name": "RNF133", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF133", "refseq_ac": [ { "id": "NP_631914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_631914", "type": "external" } ], "gene_names_uniprotkb": "RNF133", "gene_names_refseq": "RNF133", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF133; 2.3.2.27; RING finger protein 133; RING-type E3 ubiquitin transferase RNF133", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF133; RING-type E3 ubiquitin transferase RNF133", "tax_id": 9606, "disease": "", "pathway": " (hsa:168433)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "25418920;25892735;26929215;30620550;30779550;35831855", "class_list": "", "function": "Has E3 ubiquitin-protein ligase activity (By similarity). Plays a role in male fecundity through the interaction with the E2 ubituitin-protein ligase UBE2J1 (PubMed:35831855)., [UniProtKB, UniProtKB, PubMed]; 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. This gene has no intron. [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": 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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4D0W2;Q8N7G7", "ec_number_list": [], "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:0005789 endoplasmic reticulum membrane;GO:0005770 late endosome", "go_biological_process": "GO:0006511 ubiquitin-dependent protein catabolic process;GO:0051865 protein autoubiquitination", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8WVZ7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q93091-1", "uniprot_id": [ { "id": "RNAS6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q93091", "type": "external" } ], "mass": 17196.0, "length": 150, "protein_name": "Ribonuclease K6", "gene_name": "RNASE6", "organism": "Human", "refseq_name": "ribonuclease K6 precursor", "refseq_ac": [ { "id": "NP_005606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005606", "type": "external" } ], "gene_names_uniprotkb": "RNASE6; RNS6", "gene_names_refseq": "RAD1; RNASE6; RNS6; RNasek6", "protein_names_uniprotkb": "Ribonuclease K6; 3.1.27.-; RNase K6", "protein_names_refseq": "ribonuclease A D1; ribonuclease A family member k6; ribonuclease K6 precursor; ribonuclease K6; ribonuclease, RNase A family, k6; testicular tissue protein Li 166", "tax_id": 9606, "disease": "", "pathway": " (hsa:6039); (R-HSA-6803157)", "pathway_count": 2, "publication_count": 76, "publication_id_list": "11120840;11313366;11389039;11971875;12493837;13816;14506276;14739326;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;22262861;22327069;22455996;22701042;23302724;23426625;23481700;24190977;24219363;24256734;24715725;25075772;25461571;25596890;26148048;27013146;27089320;29242379;29557506;29632711;30287244;31844290;32350084;32387766;3286634;32938616;32983136;35154160;35896049;37074911;37980892;8836175;9523110;9665269;9756476", "class_list": "", "function": "An RNase6 dual catalytic and extended binding site arrangement facilitates the cleavage of polymeric substrates, [RefSeq, PubMed]; Human Ribonuclease 6 Has a Protective Role during Experimental Urinary Tract Infection., [RefSeq, PubMed]; RNASE6 is a novel modifier of APOE-epsilon4 effects on cognition., [RefSeq, PubMed]; Ribonuclease which shows a preference for the pyrimidines uridine and cytosine (PubMed:27013146, PubMed:8836175). Has potent antibacterial activity against a range of Gram-positive and Gram-negative bacteria, including P.aeruginosa, A.baumanii, M.luteus, S.aureus, E.faecalis, E.faecium, S.saprophyticus and E.coli (PubMed:25075772, PubMed:27089320). Causes loss of bacterial membrane integrity, and also promotes agglutination of Gram-negative bacteria (PubMed:27089320). Probably contributes to urinary tract sterility (PubMed:25075772). Bactericidal activity is independent of RNase activity (PubMed:27089320)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Ribonucleases 6 is an antimicrobial peptide with activity against uropathogens and participates in the maintenance of urinary tract sterility., [RefSeq, PubMed]; The protein encoded by this gene is a member of the ribonuclease A superfamily and functions in the urinary tract. The protein has broad-spectrum antimicrobial activity against pathogenic bacteria. [provided by RefSeq, Nov 2014]., [RefSeq]; These results indicate that RNase6, as previously reported for RNase3, is able to specifically agglutinate Gram-negative bacteria as a main trait of its antimicrobial activity. 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": 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": 4, "reported_glycation": 0, "reported_snv": 6, "reported_interactions": 0, "missing_score": 9462, "biomarker_type": "", "glycan_count": 10, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [ { "id": "3.1.27.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.27.-", "type": "external" } ], "go_molecular_function": "GO:0016787 hydrolase activity;GO:0003676 nucleic acid binding;GO:0004519 endonuclease activity;GO:0004540 RNA nuclease activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005764 lysosome;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0006952 defense response;GO:0019731 antibacterial humoral response;GO:0045087 innate immune response;GO:0050829 defense response to Gram-negative bacterium;GO:0050830 defense response to Gram-positive bacterium", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q93091-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96A37-1", "uniprot_id": [ { "id": "RN166_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96A37", "type": "external" } ], "mass": 26122.0, "length": 237, "protein_name": "E3 ubiquitin-protein ligase RNF166", "gene_name": "RNF166", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF166 isoform 2", "refseq_ac": [ { "id": "NP_001165286", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165286", "type": "external" } ], "gene_names_uniprotkb": "RNF166", "gene_names_refseq": "RNF166", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF166; 2.3.2.27; RING finger protein 166; RING-type E3 ubiquitin transferase RNF166", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF166 isoform 2; E3 ubiquitin-protein ligase RNF166; RING-type E3 ubiquitin transferase RNF166", "tax_id": 9606, "disease": "", "pathway": " (hsa:115992)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;25576301;26456228;27846572;27880896;28904123;31530632;31844290;32350084;32387766;32983136;33545631;34837535;38480683", "class_list": "", "function": "An unbiased informatics approach pinpointed RNF166 as a key gene that interacts with the autophagy network and controls the recruitment of ubiquitin as well as the autophagy adaptors p62 and NDP52 to bacteria., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that promotes the ubiquitination of different substrates (PubMed:27880896). In turn, participates in different biological processes including interferon production or autophagy (PubMed:26456228, PubMed:27880896). Plays a role in the activation of RNA virus-induced interferon-beta production by promoting the ubiquitination of TRAF3 and TRAF6 (PubMed:26456228). Also plays a role in the early recruitment of autophagy adapters to bacteria (PubMed:27880896). Mediates 'Lys-29' and 'Lys-33'-linked ubiquitination of SQSTM1 leading to xenophagic targeting of bacteria and inhibition of their replication (PubMed:27880896)., [UniProtKB, PubMed, PubMed]; Podocyte RNF166 deficiency alleviates diabetic nephropathy by mitigating mitochondria impairment and apoptosis via regulation of CYLD signal., [RefSeq, PubMed]; RNF166 plays a dual role for Lys63-linked ubiquitination and sumoylation of its target proteins., [RefSeq, PubMed]; RNF166 promotes colorectal cancer progression by recognizing and destabilizing poly-ADP-ribosylated angiomotins. Publication Status: Online-Only, [RefSeq, PubMed]; These findings suggest that RNF166 positively regulates RNA virus-triggered IFN-beta production by enhancing the ubiquitination of TRAF3 and TRAF6. 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": 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": "B3KQ03;D3DX75;H3BTU8;Q96DM0", "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": "GO:0045087 innate immune response;GO:0006914 autophagy;GO:0000209 protein polyubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process;GO:0016567 protein ubiquitination", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q96A37-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96MT1-1", "uniprot_id": [ { "id": "RN145_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96MT1", "type": "external" } ], "mass": 75617.0, "length": 663, "protein_name": "RING finger protein 145", "gene_name": "RNF145", "organism": "Human", "refseq_name": "RING finger protein 145 isoform 1", "refseq_ac": [ { "id": "NP_001186309", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186309", "type": "external" } ], "gene_names_uniprotkb": "RNF145", "gene_names_refseq": "RNF145", "protein_names_uniprotkb": "RING finger protein 145; 2.3.2.27", "protein_names_refseq": "RING finger protein 145 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:153830)", "pathway_count": 1, "publication_count": 63, "publication_id_list": "23481700;24715725;25418920;25576301;25645385;25892735;26154972;26992070;27600516;27846572;27862975;27920218;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29493099;29557506;29632046;29632711;29769354;30315122;30410026;30429286;30484775;30779550;30833945;31092671;31154438;31530632;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32938616;33141586;33392160;33592498;33727652;33912179;33968037;34171305;34185709;34561969;34932366;35051231;35365168;35580925;36010968;36215666;36241641;36284347;37217939;37938771", "class_list": "", "function": "CircZDBF2 up-regulates RNF145 by ceRNA model and recruits CEBPB to accelerate oral squamous cell carcinoma progression via NFkappaB signaling pathway. Publication Status: Online-Only, [RefSeq, PubMed]; E3 ubiquitin ligase that catalyzes the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. In response to bacterial infection, negatively regulates the phagocyte oxidative burst by controlling the turnover of the NADPH oxidase complex subunits. Promotes monoubiquitination of CYBA and 'Lys-48'-linked polyubiquitination and degradation of CYBB NADPH oxidase catalytic subunits, both essential for the generation of antimicrobial reactive oxygen species. Involved in the maintenance of cholesterol homeostasis. In response to high sterol concentrations ubiquitinates HMGCR, a rate-limiting enzyme in cholesterol biosynthesis, and targets it for degradation. The interaction with INSIG1 is required for this function. In addition, triggers ubiquitination of SCAP, likely inhibiting its transport to the Golgi apparatus and the subsequent processing/maturation of SREBPF2, ultimately down-regulating cholesterol biosynthesis., [UniProtKB, UniProtKB]; Genetic variation of RNF145 gene and blood lipid levels in Xinjiang population, China. 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": 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": "B7Z903;B7Z949;E7EVI7;Q8IVP7", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0061630 ubiquitin protein ligase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0036503 ERAD pathway", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q96MT1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZM3-1", "uniprot_id": [ { "id": "RPB1B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZM3", "type": "external" } ], "mass": 13088.0, "length": 115, "protein_name": "DNA-directed RNA polymerase II subunit RPB11-b1", "gene_name": "POLR2J2", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase II subunit RPB11-b1", "refseq_ac": [ { "id": "NP_116581", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_116581", "type": "external" } ], "gene_names_uniprotkb": "POLR2J2", "gene_names_refseq": "HRPB11B; POLR2J2; RPB11b1", "protein_names_uniprotkb": "DNA-directed RNA polymerase II subunit RPB11-b1; DNA-directed RNA polymerase II subunit J2; RNA polymerase II subunit B11-b1; RPB11b1", "protein_names_refseq": "DNA directed RNA polymerase II polypeptide J-related; DNA-directed RNA polymerase II subunit J2; DNA-directed RNA polymerase II subunit RPB11-b1; RNA polymerase II subunit B11-b1; polymerase (RNA) II (DNA directed) polypeptide J2; polymerase (RNA) II subunit J2", "tax_id": 9606, "disease": "", "pathway": " (hsa:246721); (hsa:548644)", "pathway_count": 2, "publication_count": 30, "publication_id_list": "11237011;11747469;12036295;22898188;23481700;24715725;25418920;25576301;25645385;26154972;27600516;27920218;28228285;28649982;28832583;28904123;29242379;29493099;29508533;29557506;29786170;30315122;30524438;31844290;32357974;32387766;33141586;33537174;36215666;37938771", "class_list": "", "function": "DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB11 is part of the core element with the central large cleft (By similarity)., [UniProtKB]; This gene is a member of the RNA polymerase II subunit 11 gene family, which includes three genes in a cluster on chromosome 7q22.1 and a pseudogene on chromosome 7p13. The founding member of this family, DNA directed RNA polymerase II polypeptide J, has been shown to encode a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This locus produces multiple, alternatively spliced transcripts that potentially express isoforms with distinct C-termini compared to DNA directed RNA polymerase II polypeptide J. Most or all variants are spliced to include additional non-coding exons at the 3' end which makes them candidates for nonsense-mediated decay (NMD). Consequently, it is not known if this locus expresses a protein or proteins in vivo. [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": "F6W009;Q9H1A8", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0046983 protein dimerization activity;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005665 RNA polymerase II, core complex", "go_biological_process": "GO:0006366 transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q9GZM3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HD33-1", "uniprot_id": [ { "id": "RM47_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HD33", "type": "external" } ], "mass": 29450.0, "length": 250, "protein_name": "Large ribosomal subunit protein uL29m", "gene_name": "MRPL47", "organism": "Human", "refseq_name": "large ribosomal subunit protein uL29m isoform a", "refseq_ac": [ { "id": "NP_065142", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065142", "type": "external" } ], "gene_names_uniprotkb": "MRPL47; CGI-204; NCM1", "gene_names_refseq": "CGI-204; L47mt; MRP-L47; MRPL47; NCM1; uL29m", "protein_names_uniprotkb": "Large ribosomal subunit protein uL29m; 39S ribosomal protein L47, mitochondrial; L47mt; MRP-L47; Nasopharyngeal carcinoma metastasis-related protein 1", "protein_names_refseq": "39S ribosomal protein L47, mitochondrial; large ribosomal subunit protein uL29m isoform a; mitochondrial large ribosomal subunit protein uL29m; nasopharyngeal carcinoma metastasis-related 1; nasopharyngeal carcinoma metastasis-related protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:57129); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 54, "publication_id_list": "11342225;11551941;15358359;17803939;18429816;18782833;19524667;19608861;19716793;20186120;20877624;21907147;22172991;2250005;25233460;25278503;25576301;25838379;26992070;27029019;27920218;28832583;28892042;28904123;29242379;29331515;29393594;29493099;29557506;30410026;31844290;32157095;32161166;32357974;32387766;32938616;33243891;33465208;33537174;33592498;33633747;33717175;33878294;33968037;34509645;35177605;35580925;36010968;36241641;36302763;36596788;37141370;38665916;40596516", "class_list": "", "function": "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. This gene is immediately adjacent to the gene for BAF complex 53 kDa subunit protein a (BAF53a), in a tail-to-tail orientation. Two transcript variants encoding different protein isoforms have been identified. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": "Q6XRG1;Q8N5D1", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "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": 5.8, "record_id": "Q9HD33-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NQ39-1", "uniprot_id": [ { "id": "RS10L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NQ39", "type": "external" } ], "mass": 20120.0, "length": 176, "protein_name": "Putative ribosomal protein eS10-like", "gene_name": "RPS10P5", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "RPS10P5; RPS10L", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative ribosomal protein eS10-like; Putative 40S ribosomal protein S10-like", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 20, "publication_id_list": "20934997;22424782;24715725;27452731;27920218;28218747;28228285;28832583;28834231;28904123;29242379;29508533;29557506;29632711;29786170;30315122;30410026;30524438;33392160;33936100", "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:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0022627 cytosolic small ribosomal subunit", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q9NQ39-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NVW2-1", "uniprot_id": [ { "id": "RNF12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NVW2", "type": "external" } ], "mass": 68549.0, "length": 624, "protein_name": "E3 ubiquitin-protein ligase RLIM", "gene_name": "RLIM", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RLIM", "refseq_ac": [ { "id": "NP_057204", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057204", "type": "external" } ], "gene_names_uniprotkb": "RLIM; RNF12", "gene_names_refseq": "MRX61; NY-REN-43; RLIM; RNF12; TOKAS", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RLIM; 2.3.2.27; LIM domain-interacting RING finger protein; R-LIM; RING finger LIM domain-binding protein; RING finger protein 12; RING-type E3 ubiquitin transferase RLIM; Renal carcinoma antigen NY-REN-43", "protein_names_refseq": "E3 ubiquitin-protein ligase RLIM; E3 ubiquitin-protein ligase RNF12; LIM domain-interacting RING finger protein; R-LIM; RING finger LIM domain-binding protein; RING-type E3 ubiquitin transferase RLIM; renal carcinoma antigen NY-REN-43; ring finger protein 12; ring zinc finger LIM domain binding protein; ring zinc finger protein NY-REN-43antigen", "tax_id": 9606, "disease": "Tonne-Kalscheuer syndrome (Disease Ontology:DOID:0112042)", "pathway": " (hsa:51132); (R-HSA-983168)", "pathway_count": 2, "publication_count": 101, "publication_id_list": "10508479;11013082;11062501;11350924;12646216;14734113;15224091;15224092;15571818;16595681;16849449;16954532;17322306;18662542;18669648;19028597;19117995;19164295;19352404;19452197;19489725;19851334;19874575;19940261;19945382;20068231;2261476;22645359;23186163;23481700;24715725;25418920;25576301;25644381;25645385;25735484;25787250;26154972;26992070;27846572;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29557506;29728705;29742418;29786170;30315122;30410026;30429286;30484775;30779550;31092671;31154438;31530632;31844290;31848261;32157095;32161166;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33633747;33936100;33953269;33968037;34087483;34171305;34509645;34561969;34932366;35013159;35040952;35051231;35318648;35561310;35580925;35857630;36010968;36215666;36241641;36284347;37132043;37938771;38747697;38849204;9380723;9668046", "class_list": "", "function": "An RNF12-USP26 amplification loop drives germ cell specification and is disrupted by disease-associated mutations., [RefSeq, PubMed]; E3 ubiquitin-protein ligase that acts as a negative coregulator for LIM homeodomain transcription factors by mediating the ubiquitination and subsequent degradation of LIM cofactors LDB1 and LDB2 and by mediating the recruitment the SIN3a/histone deacetylase corepressor complex (PubMed:29742418, PubMed:33953269). Ubiquitination and degradation of LIM cofactors LDB1 and LDB2 allows DNA-bound LIM homeodomain transcription factors to interact with other protein partners such as RLIM. Plays a role in telomere length-mediated growth suppression by mediating the ubiquitination and degradation of TERF1. By targeting ZFP42/REX1 for degradation, acts as an activator of random inactivation of X chromosome in the embryo, a stochastic process in which one X chromosome is inactivated to minimize sex-related dosage differences of X-encoded genes in somatic cells of female placental mammals. E3 ubiquitin-protein ligase is required for proper regulation of neural cell differentiation from embryonic stem cells (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; How does the Xist activator Rlim/Rnf12 regulate Xist expression? Review article, [RefSeq, PubMed]; RNF12 is regulated by AKT phosphorylation and promotes TGF-beta driven breast cancer metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; Ring finger protein 12 activates AKT signalling to promote the progression of liver cancer by interacting with EGFR., [RefSeq, PubMed]; Sequential stabilization of RNF220 by RLIM and ZC4H2 during cerebellum development and Shh-group medulloblastoma progression. Erratum:[J Mol Cell Biol. 2022 May 25;14(2):mjac030. doi: 10.1093/jmcb/mjac030. PMID: 35639540], [RefSeq, PubMed]; The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be an E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [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": 6, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RBQ1;D3DTE0;Q96D38;Q9Y598", "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:0003714 transcription corepressor activity;GO:0061630 ubiquitin protein ligase activity;GO:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0017053 transcription repressor complex", "go_biological_process": "GO:0060816 random inactivation of X chromosome;GO:0006351 DNA-templated transcription;GO:0045892 negative regulation of DNA-templated transcription;GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "Q9NVW2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NYK5-1", "uniprot_id": [ { "id": "RM39_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NYK5", "type": "external" } ], "mass": 38712.0, "length": 338, "protein_name": "Large ribosomal subunit protein mL39", "gene_name": "MRPL39", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL39 isoform X2", "refseq_ac": [ { "id": "XP_006724089", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006724089", "type": "external" } ], "gene_names_uniprotkb": "MRPL39; C21orf92; MRPL5; MSTP003; PRED22; RPML5", "gene_names_refseq": "C21orf92; COXPD59; L39mt; L5mt; MRP-L5; MRPL39; MRPL5; MSTP003; PRED22; PRED66; RPML5; mL39", "protein_names_uniprotkb": "Large ribosomal subunit protein mL39; 39S ribosomal protein L39, mitochondrial; 39S ribosomal protein L5, mitochondrial; L39mt; L5mt; MRP-L39; MRP-L5", "protein_names_refseq": "large ribosomal subunit protein mL39 isoform X2", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency (Disease Ontology:DOID:0060286); combined oxidative phosphorylation deficiency 59 (MONDO:MONDO:0957992)", "pathway": " (hsa:54148); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 51, "publication_id_list": "10593885;11167009;11237011;11543634;15358359;17803939;18429816;18782833;19524667;19608861;19716793;20186120;21907147;22172991;2250005;25233460;25278503;25418920;25802875;25838379;26992070;27029019;28218747;28228285;28832583;28892042;28904123;29242379;29437277;29557506;29632046;30315122;30484775;31530632;31844290;32157095;32357974;33243891;33537174;33878294;33912179;34357683;34725712;35177605;36010968;36302763;36596788;37133451;37141370;40307207;40914422", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 10, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "C9JYA5;Q32Q74;Q5QTR3;Q96Q65;Q9BSQ7;Q9BZV6;Q9NX44", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0000166 nucleotide binding", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005761 mitochondrial ribosome;GO:0005840 ribosome", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9NYK5-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NZE8-1", "uniprot_id": [ { "id": "RM35_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NZE8", "type": "external" } ], "mass": 21514.0, "length": 188, "protein_name": "Large ribosomal subunit protein bL35m", "gene_name": "MRPL35", "organism": "Human", "refseq_name": "large ribosomal subunit protein bL35m isoform a", "refseq_ac": [ { "id": "NP_057706", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057706", "type": "external" } ], "gene_names_uniprotkb": "MRPL35; BM-007", "gene_names_refseq": "L35mt; MRP-L35; MRPL35; bL35m", "protein_names_uniprotkb": "Large ribosomal subunit protein bL35m; 39S ribosomal protein L35, mitochondrial; L35mt; MRP-L35", "protein_names_refseq": "39S ribosomal protein L35, mitochondrial; large ribosomal subunit protein bL35m isoform a; mitochondrial large ribosomal subunit protein bL35m", "tax_id": 9606, "disease": "", "pathway": " (hsa:51318); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 58, "publication_id_list": "11237011;11551941;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;25233460;25278503;25576301;25645385;25838379;25880248;25892735;26992070;27029019;27600516;28228285;28832583;28834231;28892042;29242379;29508533;29557506;29769354;30315122;30779550;30862482;31844290;32157095;32350084;32357974;32897882;32983136;33141586;33243891;33392160;33592498;33691108;33878294;33912179;33968037;33981976;34357683;34561969;35051231;35177605;36302763;36596788;37141370;38093266;38987867", "class_list": "", "function": "High MRPL35 expression Cooperate in Colorectal Cancer., [RefSeq, PubMed]; Knockdown of MRPL35 promotes cell apoptosis and inhibits cell proliferation in non-small-cell lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; MRPL35 Induces Proliferation, Invasion, and Glutamine Metabolism in NSCLC Cells by Upregulating SLC7A5 Expression., [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p, 10q, and Xp. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A6NKV6;B2RB93;Q658U7;Q8WWA2", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005761 mitochondrial ribosome;GO:0005840 ribosome", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9NZE8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P1U0-1", "uniprot_id": [ { "id": "RPA12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P1U0", "type": "external" } ], "mass": 13904.0, "length": 126, "protein_name": "DNA-directed RNA polymerase I subunit RPA12", "gene_name": "POLR1H", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase I subunit RPA12", "refseq_ac": [ { "id": "NP_001265714", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001265714", "type": "external" } ], "gene_names_uniprotkb": "POLR1H; RPA12; ZNRD1", "gene_names_refseq": "A12.2; HTEX-6; HTEX6; POLR1H; Rpa12; TCTEX6; TEX6; ZNRD1; ZR14; hZR14; tctex-6", "protein_names_uniprotkb": "DNA-directed RNA polymerase I subunit RPA12; DNA-directed RNA polymerase I subunit H; Zinc ribbon domain-containing protein 1", "protein_names_refseq": "DNA-directed RNA polymerase I subunit H; DNA-directed RNA polymerase I subunit RPA12; RNA polymerase I small specific subunit Rpa12; transcription-associated zinc ribbon protein; zinc ribbon domain containing 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:30834); (R-HSA-427413); (R-HSA-5250924); (R-HSA-73762); (R-HSA-73772); (R-HSA-73863)", "pathway_count": 6, "publication_count": 57, "publication_id_list": "10082553;10471499;10662553;10913176;11250901;12393749;12646563;14610093;14726695;14969726;15358150;1547496;15558034;16514417;16603771;17318177;17355984;19838300;21559432;22805593;23301498;23555303;23667505;24901984;24952918;25418920;25576301;25916849;26992070;27418187;27418309;27920218;2805069;28904123;29242379;30524438;30779550;31844290;32157095;32897882;32938616;33968037;33981976;33984768;34087483;34671025;34887565;34932366;35561310;35580925;36271492;37167337;37938771;7491500;7597036;7801123;9582279", "class_list": "", "function": "Core component of RNA polymerase I (Pol I), a DNA-dependent RNA polymerase which synthesizes ribosomal RNA precursors using the four ribonucleoside triphosphates as substrates. Can mediate Pol I proofreading of the nascent RNA transcript. Anchors into the Pol I active site to monitor transcription fidelity and cleave mis-incorporated 5'-ribonucleotides., [UniProtKB, PubMed, PubMed, PubMed]; Expression of RNA polymerase I catalytic core is influenced by RPA12. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of ZNRD1 could promote multidrug-resistant phenotype of gastric cancer cells through upregulation of P-glycoprotein, [RefSeq, PubMed]; RNA polymerase I subunit 12 plays opposite roles in cell proliferation and migration., [RefSeq, PubMed]; This gene encodes a DNA-directed RNA polymerase I subunit. The encoded protein contains two potential zinc-binding motifs and may play a role in regulation of cell proliferation. The encoded protein may be involved in cancer and human immunodeficiency virus progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]., [RefSeq]; This study clearly demonstrates that ZNRD1 may play an important role in the control of human gastric cancer development by regulating cell 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": 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:0008270 zinc ion binding;GO:0003676 nucleic acid binding;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0001650 fibrillar center;GO:0005736 RNA polymerase I complex", "go_biological_process": "GO:0006139 nucleobase-containing compound metabolic process;GO:0006362 transcription elongation by RNA polymerase I;GO:0006361 transcription initiation at RNA polymerase I promoter;GO:0006363 termination of RNA polymerase I transcription;GO:0042790 nucleolar large rRNA transcription by RNA polymerase I", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q9P1U0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6G3-1", "uniprot_id": [ { "id": "RM42_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6G3", "type": "external" } ], "mass": 16661.0, "length": 142, "protein_name": "Large ribosomal subunit protein mL42", "gene_name": "MRPL42", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL42 precursor", "refseq_ac": [ { "id": "NP_054769", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054769", "type": "external" } ], "gene_names_uniprotkb": "MRPL42; HSPC204; MRPL31; MRPS32; PTD007; RPML31", "gene_names_refseq": "HSPC204; L31MT; L42MT; MRP-L31; MRP-L42; MRP-S32; MRPL31; MRPL42; MRPS32; PTD007; RPML31; S32MT; mL42", "protein_names_uniprotkb": "Large ribosomal subunit protein mL42; 39S ribosomal protein L31, mitochondrial; 39S ribosomal protein L42, mitochondrial; L31mt; L42mt; MRP-L31; MRP-L42", "protein_names_refseq": "28S ribosomal protein S32, mitochondrial; 39S ribosomal protein L31, mitochondrial; 39S ribosomal protein L42, mitochondrial; large ribosomal subunit protein mL42 precursor; mitochondrial large ribosomal subunit protein mL42", "tax_id": 9606, "disease": "", "pathway": " (hsa:28977); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 45, "publication_id_list": "11230166;11237011;11279123;11543634;11551941;15358359;17803939;18429816;18782833;19524667;19716793;20068231;20186120;20877624;21907147;22172991;2250005;25233460;25278503;25838379;26107902;26992070;27029019;28063628;28832583;28834231;28892042;28904123;29493099;29531015;29632046;29786170;30379171;30429286;31844290;32387766;33243891;33878294;33912179;35051231;35177605;36241641;36302763;36596788;37141370", "class_list": "", "function": "MPO and BPI in CD4(+)T-lymphocytes, and PDHA1 and MRPL42 in CD8(+) T-lymphocytes might be used as specific biomarkers of severe asthma progression., [RefSeq, PubMed]; MRPL42 is a novel oncogene in glioma and might help us develop promising targetted therapies for glioma patients. Publication Status: Online-Only, [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 protein identified as belonging to both the 28S and the 39S subunits. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by RefSeq, May 2011]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "Q6FID1;Q96Q48;Q9P0S1", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005840 ribosome", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 4.8, "record_id": "Q9Y6G3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O75396-1", "uniprot_id": [ { "id": "SC22B_HUMAN", "url": "https://www.uniprot.org/uniprot/O75396", "type": "external" } ], "mass": 24741.0, "length": 215, "protein_name": "Vesicle-trafficking protein SEC22b", "gene_name": "SEC22B", "organism": "Human", "refseq_name": "vesicle-trafficking protein SEC22b", "refseq_ac": [ { "id": "NP_004883", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004883", "type": "external" } ], "gene_names_uniprotkb": "SEC22B; SEC22L1", "gene_names_refseq": "ERS-24; SEC22B; SEC22L1", "protein_names_uniprotkb": "Vesicle-trafficking protein SEC22b; ER-Golgi SNARE of 24 kDa; ERS-24; ERS24; SEC22 vesicle-trafficking protein homolog B; SEC22 vesicle-trafficking protein-like 1", "protein_names_refseq": "ER-Golgi SNARE of 24 kDa; SEC22 vesicle trafficking protein homolog B; SEC22 vesicle trafficking protein-like 1; vesicle-trafficking protein SEC22b", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330)", "pathway": " (hsa:9554); (R-HSA-1236974); (R-HSA-204005); (R-HSA-5694530); (R-HSA-6811434)", "pathway_count": 5, "publication_count": 197, "publication_id_list": "10.1101/2023.09.13.557529;10052452;10318838;10445031;10559958;10559959;10652252;10679020;10747087;10761932;10788476;10825291;10903204;10921873;10982397;11035026;11172815;11237011;11285137;11306556;11493604;11689559;11703931;11726511;11739780;11748249;11927603;12047556;12070132;12235121;12237308;14504276;14654841;15029241;15037235;15272311;15616190;15632110;15813748;16030262;16129679;16303754;1631136;16495487;16571679;16624868;16633337;1680566;16912714;16926190;16940185;17005010;17010120;17038314;17081065;17113389;17192411;17253781;17287728;17316621;17360540;17429068;17451557;17499046;17562788;17607000;17684057;17760859;17927562;17956946;18025080;18182008;18283111;18287528;18524849;18669648;18691976;18692471;18809720;18843296;1898986;19015319;19109418;19151722;19164740;19217269;19265014;19269366;19369418;19566487;1957170;19608861;19631211;19638414;19656848;19758564;20005805;20068231;20136777;20357002;20427317;20462495;20477988;20533886;20534429;20545907;20637885;20679433;20805473;20966969;21219331;21406692;21478858;21525241;21532587;21550981;21689688;21844168;21878990;22013193;22094269;22153078;22157747;22304919;22675024;23186163;23378591;23396477;23479643;23613522;23698585;23852824;23864707;24119662;24275569;24917561;25083866;25202031;25364732;25406594;25436559;25492864;25586378;25619252;25619253;25645385;27452731;28218747;28228285;28514659;28832583;29242379;29741879;29786170;30315122;30573663;31844290;31848261;32870666;33214551;33465208;33936100;34019948;34725712;34779586;35083852;36044553;36284347;37074911;37148741;37217939;37938771;38665916;40596516;7844144;8001155;8128252;8132710;8221884;8253837;8505331;8620540;8663406;9094723;9114004;9150144;9177194;9244307;9288971;9307973;9395526;9405360;9472029;9647643;9653160;9751720;9990005", "class_list": "", "function": "Extended-synaptotagmin 1 engages in unconventional protein secretion mediated via SEC22B(+) vesicle pathway in liver cancer., [RefSeq, PubMed]; SEC22B inhibition attenuates colorectal cancer aggressiveness and autophagic flux under unfavorable environment., [RefSeq, PubMed]; SNARE involved in targeting and fusion of ER-derived transport vesicles with the Golgi complex as well as Golgi-derived retrograde transport vesicles with the ER., [UniProtKB, PubMed]; The protein encoded by this gene is a member of the SEC22 family of vesicle trafficking proteins. It seems to complex with SNARE and it is thought to play a role in the ER-Golgi protein trafficking. This protein has strong similarity to Mus musculus and Cricetulus griseus 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": 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": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 5, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K1G0", "ec_number_list": [], "go_molecular_function": "GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0000421 autophagosome membrane;GO:0005765 lysosomal membrane;GO:0005789 endoplasmic reticulum membrane;GO:0042470 melanosome", "go_biological_process": "GO:1902902 negative regulation of autophagosome assembly;GO:0015031 protein transport;GO:0016236 macroautophagy;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:0045732 positive regulation of protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 20.5, "record_id": "O75396-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A4IF30-1", "uniprot_id": [ { "id": "S35F4_HUMAN", "url": "https://www.uniprot.org/uniprot/A4IF30", "type": "external" } ], "mass": 57809.0, "length": 521, "protein_name": "Solute carrier family 35 member F4", "gene_name": "SLC35F4", "organism": "Human", "refseq_name": "solute carrier family 35 member F4 isoform b", "refseq_ac": [ { "id": "NP_001193849", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001193849", "type": "external" } ], "gene_names_uniprotkb": "SLC35F4; C14orf36", "gene_names_refseq": "C14orf36; SLC35F4; c14_5373", "protein_names_uniprotkb": "Solute carrier family 35 member F4", "protein_names_refseq": "solute carrier family 35 member F4 isoform b", "tax_id": 9606, "disease": "", "pathway": " (hsa:341880)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;21654843;29557506;35051231;35494241;40972734", "class_list": "", "function": "Mediates choline transport, although the underlying transport mechanism remains to be elucidated., [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": 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": "A6NDQ3", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0015220 choline transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0015871 choline transport", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "A4IF30-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2Q9-1", "uniprot_id": [ { "id": "RT28_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2Q9", "type": "external" } ], "mass": 20843.0, "length": 187, "protein_name": "Small ribosomal subunit protein bS1m", "gene_name": "MRPS28", "organism": "Human", "refseq_name": "small ribosomal subunit protein bS1m", "refseq_ac": [ { "id": "NP_054737", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054737", "type": "external" } ], "gene_names_uniprotkb": "MRPS28; HSPC007; MRPS35", "gene_names_refseq": "COXPD47; HSPC007; MRP-S28; MRP-S35; MRPS28; MRPS35", "protein_names_uniprotkb": "Small ribosomal subunit protein bS1m; 28S ribosomal protein S28, mitochondrial; 28S ribosomal protein S35, mitochondrial; MRP-S28; MRP-S35; S28mt; S35mt", "protein_names_refseq": "28S ribosomal protein S28, mitochondrial; 28S ribosomal protein S35, mitochondrial; S28mt; S35mt; mitochondrial 28S ribosomal protein S35; mitochondrial small ribosomal subunit protein bS1m; small ribosomal subunit protein bS1m", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 47 (Disease Ontology:DOID:0112114)", "pathway": " (hsa:28957); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 38, "publication_id_list": "10938081;11237011;11543634;15358359;17803939;18429816;18782833;19524667;19608861;19716793;20186120;21907147;22172991;2250005;25233460;25838379;25892735;26992070;27029019;28892042;28904123;29557506;30566640;31844290;32357974;33141586;33243891;33717175;33878294;33968037;35051231;36010968;36241641;36302763;36596788;37141370;37938771;39894887", "class_list": "", "function": "MRPS28 joins the ranks of genes encoding mitoribosomal proteins linked to impaired mitoribosomal biogenesis and function in mitochondrial disease., [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 28S subunit protein that has been called mitochondrial ribosomal protein S35 in the literature. [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": 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": "B2RDZ7;Q96Q21", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005763 mitochondrial small ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9Y2Q9-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q695T7-1", "uniprot_id": [ { "id": "S6A19_HUMAN", "url": "https://www.uniprot.org/uniprot/Q695T7", "type": "external" } ], "mass": 71110.0, "length": 634, "protein_name": "Sodium-dependent neutral amino acid transporter B(0)AT1", "gene_name": "SLC6A19", "organism": "Human", "refseq_name": "sodium-dependent neutral amino acid transporter B(0)AT1", "refseq_ac": [ { "id": "NP_001003841", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001003841", "type": "external" } ], "gene_names_uniprotkb": "SLC6A19; B0AT1", "gene_names_refseq": "B0AT1; HND; SLC6A19", "protein_names_uniprotkb": "Sodium-dependent neutral amino acid transporter B(0)AT1; Solute carrier family 6 member 19; System B(0) neutral amino acid transporter AT1", "protein_names_refseq": "broad neutral amino acid transporter 1; sodium-dependent amino acid transporter system B0; sodium-dependent neutral amino acid transporter B(0)AT1; solute carrier family 6 (neurotransmitter transporter), member 19; solute carrier family 6 (neutral amino acid transporter), member 19; system B(0) neutral amino acid transporter AT1; system B0 neutral amino acid transporter", "tax_id": 9606, "disease": "iminoglycinuria (Disease Ontology:DOID:0112265); Hartnup disease (Disease Ontology:DOID:1060); hypertension (Disease Ontology:DOID:10763); hyperglycinuria (MONDO:MONDO:0007677)", "pathway": " (hsa:340024); (R-HSA-352230); (R-HSA-442660); (R-HSA-5619044); (R-HSA-5659735)", "pathway_count": 5, "publication_count": 79, "publication_id_list": "10358010;10391915;10446133;10485994;10684912;10698697;10823827;10863037;10889531;10891391;10903140;10930503;10973981;11237011;11243884;11278508;11318953;11342143;11417227;11591158;11698620;11827462;11897791;12115694;12151341;12202949;12527723;12809675;12930836;15151999;15286787;15286788;15592994;15632147;15659399;15918515;16226721;16751771;17502375;17726476;18195088;18424768;18484095;18599538;19033659;19185582;2008212;20399395;21097500;2387399;24652292;26240152;27862975;29557506;31154438;31176687;31844290;32132184;32357974;33064147;34185709;35051231;35580925;36581221;7589472;7651355;7874447;7876094;8010975;8101838;8125921;8183239;8340364;8632143;8702519;8910405;9174363;9845349;9878049", "class_list": "", "function": "Discovered a heterozygous missense mutation (c700G to A [pG234S) in the SLC6A1 encoding GABA transporter 1, [RefSeq, PubMed]; Functional characterization of sodium-coupled neutral 'amino acid transport system B' in apical brush border membrane of an intact intestinal cell., [RefSeq, PubMed]; The ACE2-B0AT1 complex exists as a dimer of heterodimers. Structural alignment of the RBD-ACE2-B0AT1 ternary complex with the S protein of SARS-CoV-2 suggests that two S protein trimers can simultaneously bind to an ACE2 homodimer., [RefSeq, PubMed]; This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene may result in Hartnup disorder, an inherited disease with symptoms such as pellagra, cerebellar ataxia, and psychosis. The expression and function of B0AT1 (SLC6A19) in intestinal cells depends on the presence of the accessory protein angiotensin-converting enzyme 2 (ACE2) which, among other functions, acts as a chaperone for membrane trafficking of B0AT1. The ACE2 is also the cellular receptor for severe acute respiratory syndrome-coronavirus (SARS-CoV) and for SARS-CoV-2 that is causing the coronavirus 2019 (COVID-19) pandemic [provided by RefSeq, Jul 2020]., [RefSeq]; Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells (PubMed:15286787, PubMed:15286788, PubMed:18424768, PubMed:18484095, PubMed:19185582, PubMed:26240152). This uptake is sodium-dependent and chloride-independent (PubMed:15286787, PubMed:15286788, PubMed:19185582). Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity (PubMed:18424768, PubMed:19185582)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Unraveling the Role of ACE2, the Binding Receptor for SARS-CoV-2, in Inflammatory Bowel Disease. 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": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 32, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 4, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "A8K446", "ec_number_list": [], "go_molecular_function": "GO:0015171 amino acid transmembrane transporter activity;GO:0015175 neutral L-amino acid transmembrane transporter activity;GO:0015293 symporter activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0031526 brush border membrane;GO:0016020 membrane", "go_biological_process": "GO:0019058 viral life cycle;GO:0007584 response to nutrient;GO:0006865 amino acid transport;GO:0015804 neutral amino acid transport;GO:0035725 sodium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 8.5, "record_id": "Q695T7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z3H4-1", "uniprot_id": [ { "id": "SAMD7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z3H4", "type": "external" } ], "mass": 49112.0, "length": 446, "protein_name": "Sterile alpha motif domain-containing protein 7", "gene_name": "SAMD7", "organism": "Human", "refseq_name": "sterile alpha motif domain-containing protein 7", "refseq_ac": [ { "id": "NP_001291295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001291295", "type": "external" } ], "gene_names_uniprotkb": "SAMD7", "gene_names_refseq": "MDCD; SAMD7", "protein_names_uniprotkb": "Sterile alpha motif domain-containing protein 7; SAM domain-containing protein 7", "protein_names_refseq": "SAM domain-containing protein 7; sterile alpha motif domain-containing protein 7", "tax_id": 9606, "disease": "macular degeneration (Disease Ontology:DOID:4448); macular dystrophy with or without cone dysfunction (MONDO:MONDO:0958326)", "pathway": " (hsa:344658)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;18452278;23565263;26887858;29557506;34171305;35051231;38272031", "class_list": "", "function": "Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7. Publication Status: Online-Only, [RefSeq, PubMed]; Component of a Polycomb group (PcG) multiprotein PRC1-like complex, essential for establishing rod photoreceptor cell identity and function by silencing nonrod gene expression in developing rod photoreceptor cells. Via its association with the PRC1-like complex, promotes epigenetic repressive marks H3K27me3 and H2AK119ub marks in nonrod genes, silencing their transcription. Represses Crx-controlled photoreceptor-specific gene expression., [UniProtKB, UniProtKB]; Data have identified a novel retinal SAM domain protein, Samd7, which could act as a transcriptional repressor involved in fine-tuning of Crx-regulated gene expression., [RefSeq, PubMed]; Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction., [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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0035102 PRC1 complex", "go_biological_process": "GO:0045892 negative regulation of DNA-templated transcription;GO:0046548 retinal rod cell development;GO:0045814 negative regulation of gene expression, epigenetic", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q7Z3H4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43868-1", "uniprot_id": [ { "id": "S28A2_HUMAN", "url": "https://www.uniprot.org/uniprot/O43868", "type": "external" } ], "mass": 71926.0, "length": 658, "protein_name": "Sodium/nucleoside cotransporter 2", "gene_name": "SLC28A2", "organism": "Human", "refseq_name": "sodium/nucleoside cotransporter 2", "refseq_ac": [ { "id": "NP_004203", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004203", "type": "external" } ], "gene_names_uniprotkb": "SLC28A2; CNT2", "gene_names_refseq": "CNT2; HCNT2; HsT17153; SLC28A2; SPNT1", "protein_names_uniprotkb": "Sodium/nucleoside cotransporter 2; CNT 2; Concentrative nucleoside transporter 2; Na(+)/nucleoside cotransporter 2; SPNT; Sodium-coupled nucleoside transporter 2; Sodium/purine nucleoside co-transporter; Solute carrier family 28 member 2; hCNT2", "protein_names_refseq": "CNT 2; Na(+)/nucleoside cotransporter 2; SPNT; concentrative nucleoside transporter 2; sodium-coupled nucleoside transporter 2; sodium/nucleoside cotransporter 2; sodium/purine nucleoside co-transporter; solute carrier family 28 (concentrative nucleoside transporter), member 2; solute carrier family 28 (sodium-coupled nucleoside transporter), member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:9153); (R-HSA-83936); (R-HSA-9748787); (R-HSA-9755088)", "pathway_count": 4, "publication_count": 87, "publication_id_list": "10087507;10455109;10840050;11032837;11237011;11809823;12435799;12499231;12606760;12697733;15448143;15701636;15747503;15850391;15861032;15917509;16265592;16446384;16530731;16717136;16873718;17301077;17412768;17700367;17996297;18635603;18940313;18981177;19164483;19368893;197968;20096989;20173735;20216118;20486858;20504255;211390;21396942;2159925;21723252;21795683;22444596;23096567;23816837;24107682;24824603;24911211;24957263;24974183;26238318;2648994;2737800;280136;28385889;29482072;29557506;29580856;30045981;30679935;30716294;30987408;31520644;32387766;33910126;34185709;35051231;35307651;35580925;38253038;5767308;5840415;5857365;657528;6989049;8226881;8626464;8670112;8986748;9099726;9124315;9132023;942489;9435697;9478986;9587671;9605565;9647364", "class_list": "", "function": "Characterization of deoxyribonucleoside transport mediated by concentrative nucleoside transporters., [RefSeq, PubMed]; Results that validate the newly developed structural homology model of CNT membrane architecture for human CNTs, revealed extended conformationally mobile regions within transport-domain TMs, identified pore-lining residues of functional importance, and provided evidence of an emerging novel elevator-type mechanism of transporter function., [RefSeq, PubMed]; Significant association of intron variants in the SLC28A2 gene with both serum uric acid level and hyperuricemia phenotype, and another exonic variant with gout in Han Chinese Publication Status: Online-Only, [RefSeq, PubMed]; Sodium-dependent and purine-selective transporter (PubMed:10087507, PubMed:9435697). Exhibits the transport characteristics of the nucleoside transport system cif or N1 subtype (N1/cif) (selective for purine nucleosides and uridine) (PubMed:10087507, PubMed:21795683, PubMed:9435697). Plays a critical role in specific uptake and salvage of purine nucleosides in kidney and other tissues (PubMed:9435697). May contribute to regulate the transport of organic compounds in testes across the blood-testis-barrier (Probable)., [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K7F9;O43239;Q52LZ0", "ec_number_list": [], "go_molecular_function": "GO:0005326 neurotransmitter transmembrane transporter activity;GO:0015213 uridine transmembrane transporter activity;GO:0015211 purine nucleoside transmembrane transporter activity;GO:0005345 purine nucleobase transmembrane transporter activity;GO:0005415 nucleoside:sodium symporter activity", "go_cellular_component": "GO:0030135 coated vesicle;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031526 brush border membrane;GO:0012506 vesicle membrane", "go_biological_process": "GO:0015860 purine nucleoside transmembrane transport;GO:0015862 uridine transmembrane transport;GO:0006805 xenobiotic metabolic process;GO:0001895 retina homeostasis;GO:0006855 xenobiotic transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 9.1, "record_id": "O43868-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7Q5-1", "uniprot_id": [ { "id": "S35G4_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7Q5", "type": "external" } ], "mass": 35378.0, "length": 338, "protein_name": "Solute carrier family 35 member G4", "gene_name": "SLC35G4", "organism": "Human", "refseq_name": "solute carrier family 35 member G4", "refseq_ac": [ { "id": "NP_001269229", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269229", "type": "external" } ], "gene_names_uniprotkb": "SLC35G4; AMAC1L1; SLC35G4P", "gene_names_refseq": "AMAC1L1; SLC35G4P; SLC35G4", "protein_names_uniprotkb": "Solute carrier family 35 member G4; Acyl-malonyl-condensing enzyme 1-like protein 1", "protein_names_refseq": "acyl-malonyl-condensing enzyme 1-like protein 1; protein AMAC1L1; putative solute carrier family 35 member G4 pseudogene; solute carrier family 35 member G4; solute carrier family 35, member G4, pseudogene", "tax_id": 9606, "disease": "", "pathway": " (hsa:646000)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "17101974;35051231;40972734", "class_list": "", "function": "Mediates choline transport, although the underlying transport mechanism remains to be elucidated., [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "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" } ], "go_molecular_function": "GO:0015220 choline transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0015871 choline transport", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "P0C7Q5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C7V7-1", "uniprot_id": [ { "id": "SC11B_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C7V7", "type": "external" } ], "mass": 19160.0, "length": 166, "protein_name": "Putative signal peptidase complex catalytic subunit SEC11B", "gene_name": "SEC11B", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SEC11B; SEC11L2; SPCS4B", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative signal peptidase complex catalytic subunit SEC11B; 3.4.21.89; SEC11 homolog B; SEC11-like protein 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "25645385;27846572;29437277;31844290;32387766;32488085", "class_list": "", "function": "Putative component of some signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum., [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": "", "ec_number_list": [], "go_molecular_function": "GO:0004252 serine-type endopeptidase activity;GO:0008233 peptidase activity;GO:0009003 signal peptidase activity", "go_cellular_component": "GO:0005787 signal peptidase complex", "go_biological_process": "GO:0006465 signal peptide processing", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P0C7V7-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0C874-1", "uniprot_id": [ { "id": "S31D3_HUMAN", "url": "https://www.uniprot.org/uniprot/P0C874", "type": "external" } ], "mass": 102419.0, "length": 917, "protein_name": "Spermatogenesis-associated protein 31D3", "gene_name": "SPATA31D3", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 31D3", "refseq_ac": [ { "id": "NP_997299", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997299", "type": "external" } ], "gene_names_uniprotkb": "SPATA31D3; FAM75D3", "gene_names_refseq": "FAM75D3; SPATA31D3", "protein_names_uniprotkb": "Spermatogenesis-associated protein 31D3; Protein FAM75D3", "protein_names_refseq": "FAM75-like protein FLJ44082; Putative FAM75-like protein FLJ44082; family with sequence similarity 75, member D3; putative protein FAM75D3; putative spermatogenesis-associated protein 31D3; spermatogenesis-associated protein 31D3", "tax_id": 9606, "disease": "", "pathway": " (hsa:389762)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "26374642;29242379;31217245;32350084;32387766", "class_list": "", "function": "May play a role in spermatogenesis., [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": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "P0C874-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P43007-1", "uniprot_id": [ { "id": "SATT_HUMAN", "url": "https://www.uniprot.org/uniprot/P43007", "type": "external" } ], "mass": 55723.0, "length": 532, "protein_name": "Neutral amino acid transporter A", "gene_name": "SLC1A4", "organism": "Human", "refseq_name": "neutral amino acid transporter A isoform 2", "refseq_ac": [ { "id": "NP_001180422", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001180422", "type": "external" } ], "gene_names_uniprotkb": "SLC1A4; ASCT1; SATT", "gene_names_refseq": "ASCT1; SATT; SLC1A4; SPATCCM", "protein_names_uniprotkb": "Neutral amino acid transporter A; ASCT-1; Alanine/serine/cysteine/threonine transporter 1; Solute carrier family 1 member 4", "protein_names_refseq": "alanine/serine/cysteine/threonine transporter 1; glutamate/neutral amino acid transporter; neutral amino acid transporter A isoform 2; neutral amino acid transporter A; solute carrier family 1 (glutamate/neutral amino acid transporter), member 4", "tax_id": 9606, "disease": "episodic ataxia type 6 (Disease Ontology:DOID:0050994); spastic tetraplegia, thin corpus callosum, and progressive microcephaly (Disease Ontology:DOID:0070537); neurodegenerative disease (Disease Ontology:DOID:1289); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:6509); (R-HSA-352230)", "pathway_count": 2, "publication_count": 125, "publication_id_list": "10.1101/2023.09.13.557529;10358010;10391915;10485994;10698697;10823827;10863037;10891391;10903140;10930503;11243884;11278508;11318953;11342143;11417227;11591158;11827462;12202949;12527723;12809675;12930836;14502423;15151999;15659399;15918515;17081065;18195088;18512783;18578522;18669648;19349973;19901323;20068231;21097500;24190977;24652292;24715725;24808181;25418920;25502872;25576301;25645385;25930971;26041762;26138499;26154972;26811146;26992070;27272177;27846572;27909246;27920218;28063628;28228285;28411811;28467828;28514659;28807674;28832583;28834231;28904123;29242379;29393594;29508533;29632046;30315122;30429286;30484775;30524438;30573663;30833945;31092671;31154438;31217245;31530632;31611695;31844290;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33592498;33717175;33912179;33936100;33968037;34078123;34171305;34357683;34433824;34509645;34561969;34630942;34725712;34932366;35051231;35154160;35195906;35251023;35318648;35561310;35580925;35605507;36010968;36241641;36284347;7589472;7896285;8010975;8101838;8340364;8702519;8910405;9174363;9878049", "class_list": "", "function": "A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation., [RefSeq, PubMed]; ANKRD50 simultaneously engages multiple parts of the SNX27-retromer-WASH complex machinery in a direct and co-operative interaction network that is needed to efficiently recycle the nutrient transporters, [RefSeq, PubMed]; Results suggest that ASCT1/2 may play an important role in regulating extracellular d-serine and NMDA receptor-mediated physiological effects and that ASCT1/2 inhibitors have the potential for therapeutic benefit., [RefSeq, PubMed]; Sodium-coupled antiporter of neutral amino acids. In a tri-substrate transport cycle, exchanges neutral amino acids between the extracellular and intracellular compartments, coupled to the inward cotransport of at least one sodium ion (PubMed:24808181, PubMed:27272177, PubMed:34630942, PubMed:8910405). Exchanges neutral amino acids such as L- and D-serine, L-threonine, L-asparagine and L-alanine in a bidirectional way (PubMed:14502423, PubMed:26041762, PubMed:27272177, PubMed:34630942, PubMed:8101838, PubMed:8340364, PubMed:8910405). Involved in homeostasis of D-serine, a coagonist of synaptic NMDA receptors. In astrocytes at excitatory synapses, mediates electrogenic D-serine influx coupled to L-serine efflux and L-serine shuttling to neurons for de novo D-serine synthesis (By similarity). Displays sodium- and amino acid-dependent but uncoupled channel-like anion conductance with a preference SCN(-) > NO3(-) > I(-) > Cl(-) (PubMed:8910405)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [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": 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": 6, "reported_mutagensis": 11, "reported_glycation": 0, "reported_snv": 7, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B7Z3C0;D6W5F0", "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:0015180 L-alanine transmembrane transporter activity;GO:0015193 L-proline transmembrane transporter activity;GO:0015195 L-threonine transmembrane transporter activity;GO:0034590 L-hydroxyproline transmembrane transporter activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005813 centrosome;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0030425 dendrite", "go_biological_process": "GO:0015824 proline transport;GO:0015825 L-serine transport;GO:0015826 threonine transport;GO:0034589 hydroxyproline transport;GO:0050890 cognition", "synthesized_glycan_count": 0, "hit_score": 13.2, "record_id": "P43007-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P48066-1", "uniprot_id": [ { "id": "S6A11_HUMAN", "url": "https://www.uniprot.org/uniprot/P48066", "type": "external" } ], "mass": 70606.0, "length": 632, "protein_name": "Sodium- and chloride-dependent GABA transporter 3", "gene_name": "SLC6A11", "organism": "Human", "refseq_name": "sodium- and chloride-dependent GABA transporter 3 isoform 2", "refseq_ac": [ { "id": "NP_001304335", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304335", "type": "external" } ], "gene_names_uniprotkb": "SLC6A11; GABT3; GAT3", "gene_names_refseq": "GAT-3; GAT3; GAT4; SLC6A11", "protein_names_uniprotkb": "Sodium- and chloride-dependent GABA transporter 3; GAT-3; Solute carrier family 6 member 11", "protein_names_refseq": "sodium- and chloride-dependent GABA transporter 3 isoform 2; sodium- and chloride-dependent GABA transporter 3; solute carrier family 6 (neurotransmitter transporter), member 11; solute carrier family 6 (neurotransmitter transporter, GABA), member 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:6538); (R-HSA-442660); (R-HSA-71288); (R-HSA-888593)", "pathway_count": 4, "publication_count": 50, "publication_id_list": "10446133;10684912;10889531;10973981;11555793;11698620;11897791;12115694;12151341;12889669;15044463;15286787;15286788;15592994;15632147;16226721;16751771;16981706;17502375;17726476;18334916;18599538;19086053;19450549;2008212;2324105;2387399;24715725;26758079;28904123;2914937;29557506;29735817;29930131;32301730;32387766;33710537;33968037;35051231;7651355;7874447;7945388;8125921;8183239;8632143;8651275;9148748;9218780;9722522;9845349", "class_list": "", "function": "Downregulation of GABA Transporter 3 (GAT3) is Associated with Deficient Oxidative GABA Metabolism in Human Induced Pluripotent Stem Cell-Derived Astrocytes in Alzheimer's Disease., [RefSeq, PubMed]; GAT-1 (rs2697153) and GAT-3 (rs2272400) polymorphisms are associated with febrile seizures and temporal lobe epilepsy., [RefSeq, PubMed]; GAT-3 expression was selectively decreased in the central amygdala of alcohol-dependent people compared to those who died of unrelated causes., [RefSeq, PubMed]; Homology models of hGAT-2 and hGAT-3 were built and searched for (i) substrate conformation, (ii) prediction of substrate (inhibitor) interaction, and (iii) distinguishable allosteric Zn2+ inhibition by combining docking and MD calculations., [RefSeq, PubMed]; Mediates sodium- and chloride-dependent transport of gamma-aminobutyric acid (GABA) (PubMed:7874447). Can also mediate transport of beta-alanine and to a lower extent that of taurine and hypotaurine (By similarity)., [UniProtKB, UniProtKB, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed]; The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]., [RefSeq]; We performed GATA4 mutation screening for 119 patients with 46, XY DSD without heart anomalies, [RefSeq, PubMed]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R6U6;Q8IYC9", "ec_number_list": [], "go_molecular_function": "GO:0005332 gamma-aminobutyric acid:sodium:chloride symporter activity;GO:0016597 amino acid binding;GO:0005369 taurine:sodium symporter activity;GO:0008028 monocarboxylic acid transmembrane transporter activity", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0045211 postsynaptic membrane;GO:0042995 cell projection", "go_biological_process": "GO:0006865 amino acid transport;GO:0035725 sodium ion transmembrane transport;GO:0009410 response to xenobiotic stimulus;GO:0015718 monocarboxylic acid transport;GO:0006836 neurotransmitter transport", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "P48066-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P53794-1", "uniprot_id": [ { "id": "SC5A3_HUMAN", "url": "https://www.uniprot.org/uniprot/P53794", "type": "external" } ], "mass": 79664.0, "length": 718, "protein_name": "Sodium/myo-inositol cotransporter", "gene_name": "SLC5A3", "organism": "Human", "refseq_name": "sodium/myo-inositol cotransporter", "refseq_ac": [ { "id": "NP_008864", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008864", "type": "external" } ], "gene_names_uniprotkb": "SLC5A3", "gene_names_refseq": "BCW2; SLC5A3; SMIT1; SMIT2; SMIT", "protein_names_uniprotkb": "Sodium/myo-inositol cotransporter; Na(+)/myo-inositol cotransporter; SMIT1; Sodium/myo-inositol transporter 1; Solute carrier family 5 member 3", "protein_names_refseq": "Na(+)/myo-inositol cotransporter; sodium/myo-inositol cotransporter 1; sodium/myo-inositol cotransporter; sodium/myo-inositol transporter 1; solute carrier family 5 (inositol transporters), member 3; solute carrier family 5 (sodium/myo-inositol cotransporter), member 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:6526); (R-HSA-429593)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10.1101/2023.09.13.557529;11500374;12039040;19032932;21679696;23186163;23481700;24595108;27217553;27600516;27920218;28228285;28793216;28832583;29242379;29314611;29393594;29789417;30524438;30779550;32161166;32235474;34725712;35760803;37074911;37324953;37938771;7537337;7789985;8626564;9441750", "class_list": "", "function": "Electrogenic Na(+)-coupled sugar symporter that actively transports myo-inositol and its stereoisomer scyllo-inositol across the plasma membrane, with a Na(+) to sugar coupling ratio of 2:1 (By similarity). Maintains myo-inositol concentration gradient that defines cell volume and fluid balance during osmotic stress, in particular in the fetoplacental unit and central nervous system (By similarity). Forms coregulatory complexes with voltage-gated K(+) ion channels, allosterically altering ion selectivity, voltage dependence and gating kinetics of the channel. In turn, K(+) efflux through the channel forms a local electrical gradient that modulates electrogenic Na(+)-coupled myo-inositol influx through the transporter (PubMed:24595108, PubMed:28793216). Associates with KCNQ1-KCNE2 channel in the apical membrane of choroid plexus epithelium and regulates the myo-inositol gradient between blood and cerebrospinal fluid with an impact on neuron excitability (By similarity) (PubMed:24595108). Associates with KCNQ2-KCNQ3 channel altering ion selectivity, increasing Na(+) and Cs(+) permeation relative to K(+) permeation (PubMed:28793216). Provides myo-inositol precursor for biosynthesis of phosphoinositides such as PI(4,5)P2, thus indirectly affecting the activity of phosphoinositide-dependent ion channels and Ca(2+) signaling upon osmotic stress (PubMed:27217553)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Myo-Inositol Transporter SLC5A3 Associates with Degenerative Changes and Inflammation in Sporadic Inclusion Body Myositis. Publication Status: Online-Only, [RefSeq, PubMed]; SLC5A3 is important for cervical cancer cell growth. Publication Status: Online-Only, [RefSeq, PubMed]; SMIT1 Modifies KCNQ Channel Function and Pharmacology by Physical Interaction with the Pore, [RefSeq, PubMed]; The sodium/myo-inositol co-transporter SLC5A3 promotes non-small cell lung cancer cell growth. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "O43489", "ec_number_list": [], "go_molecular_function": "GO:0005367 myo-inositol:sodium symporter activity;GO:0005412 D-glucose:sodium symporter activity;GO:0015459 potassium channel regulator activity;GO:0044325 transmembrane transporter binding;GO:0015166 polyol transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0048471 perinuclear region of cytoplasm;GO:0016324 apical plasma membrane", "go_biological_process": "GO:1904659 D-glucose transmembrane transport;GO:1903428 positive regulation of reactive oxygen species biosynthetic process;GO:0015791 polyol transmembrane transport;GO:0015798 myo-inositol transport;GO:1905477 positive regulation of protein localization to membrane", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "P53794-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q08AI6-1", "uniprot_id": [ { "id": "S38AB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q08AI6", "type": "external" } ], "mass": 44825.0, "length": 406, "protein_name": "Putative sodium-coupled neutral amino acid transporter 11", "gene_name": "SLC38A11", "organism": "Human", "refseq_name": "putative sodium-coupled neutral amino acid transporter 11 isoform 1", "refseq_ac": [ { "id": "NP_001186077", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186077", "type": "external" } ], "gene_names_uniprotkb": "SLC38A11; AVT2", "gene_names_refseq": "AVT2; SLC38A11", "protein_names_uniprotkb": "Putative sodium-coupled neutral amino acid transporter 11; Solute carrier family 38 member 11", "protein_names_refseq": "putative sodium-coupled neutral amino acid transporter 11 isoform 1; putative sodium-coupled neutral amino acid transporter 11", "tax_id": 9606, "disease": "", "pathway": " (hsa:151258)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;29351928;29557506;31844290;35051231", "class_list": "", "function": "Putative sodium-dependent amino acid/proton antiporter., [UniProtKB, UniProtKB, 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": 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": 10, "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": "B4DF99;Q8N887", "ec_number_list": [], "go_molecular_function": "GO:0015179 L-amino acid transmembrane transporter activity", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0006814 sodium ion transport;GO:0003333 amino acid transmembrane transport;GO:0006865 amino acid transport", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q08AI6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14542-1", "uniprot_id": [ { "id": "S29A2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14542", "type": "external" } ], "mass": 50113.0, "length": 456, "protein_name": "Equilibrative nucleoside transporter 2", "gene_name": "SLC29A2", "organism": "Human", "refseq_name": "equilibrative nucleoside transporter 2 isoform a", "refseq_ac": [ { "id": "NP_001287797", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287797", "type": "external" } ], "gene_names_uniprotkb": "SLC29A2; DER12; ENT2; HNP36", "gene_names_refseq": "DER12; ENT2; HNP36; SLC29A2; hENT2", "protein_names_uniprotkb": "Equilibrative nucleoside transporter 2; 36 kDa nucleolar protein HNP36; Delayed-early response protein 12; Equilibrative NBMPR-insensitive nucleoside transporter; Equilibrative nitrobenzylmercaptopurine riboside-insensitive nucleoside transporter; Hydrophobic nucleolar protein, 36 kDa; Nucleoside transporter, ei-type; Solute carrier family 29 member 2; hENT2", "protein_names_refseq": "36 kDa nucleolar protein HNP36; delayed-early response protein 12; equilibrative NBMPR-insensitive nucleoside transporter; equilibrative nitrobenzylmercaptopurine riboside-insensitive nucleoside transporter; equilibrative nucleoside transporter 2 isoform a; equilibrative nucleoside transporter 2; hydrophobic nucleolar protein, 36 kDa; hydrophobic nucleolar protein, 36kD; nucleoside transporter, ei-type; solute carrier family 29 (equilibrative nucleoside transporter), member 2; solute carrier family 29 (nucleoside transporters), member 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:3177); (R-HSA-83936); (R-HSA-9748787)", "pathway_count": 3, "publication_count": 80, "publication_id_list": "10455109;10722669;10840050;11032837;11809823;12435799;12527552;12590919;12697733;15448143;15701636;15747503;15850391;16214850;16530731;16717136;16873718;17301077;17996297;18940313;18981177;19368893;19413330;197968;20068231;20216118;211390;21406692;21723252;21795683;22444596;23096567;23639800;23816837;24190977;24824603;24911211;24974183;26238318;2648994;27271752;28514659;28904123;29242379;29393594;29482072;30315122;30987408;31601121;31844290;32350084;32357974;33298915;33968037;33994542;34357683;34503974;35051231;36215666;36241641;36669543;39885119;40367900;5767308;5840415;5857365;657528;6989049;7639753;8226881;8670112;8986748;9099726;9124315;9132023;9396714;942489;9435697;9478986;9587671", "class_list": "", "function": "Bidirectional uniporter involved in the facilitative transport of nucleosides and nucleobases, and contributes to maintaining their cellular homeostasis (PubMed:10722669, PubMed:12527552, PubMed:12590919, PubMed:16214850, PubMed:21795683, PubMed:9396714, PubMed:9478986). Functions as a Na(+)-independent, passive transporter (PubMed:9478986). Involved in the transport of nucleosides such as inosine, adenosine, uridine, thymidine, cytidine and guanosine (PubMed:10722669, PubMed:12527552, PubMed:12590919, PubMed:16214850, PubMed:21795683, PubMed:9396714, PubMed:9478986). Also able to transport purine nucleobases (hypoxanthine, adenine, guanine) and pyrimidine nucleobases (thymine, uracil) (PubMed:16214850, PubMed:21795683). Also mediates nicotinamide uptake supporting homeostasis and modulating its biological activities (PubMed:39885119). Can also transport urate (PubMed:40367900). Involved in nucleoside transport at basolateral membrane of kidney cells, allowing liver absorption of nucleoside metabolites (PubMed:12527552). Mediates apical nucleoside uptake into Sertoli cells, thereby regulating the transport of nucleosides in testis across the blood-testis-barrier (PubMed:23639800). Mediates both the influx and efflux of hypoxanthine in skeletal muscle microvascular endothelial cells to control the amount of intracellular hypoxanthine available for xanthine oxidase-mediated ROS production (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Deletion of equilibrative nucleoside transporter 2 disturbs energy metabolism and exacerbates disease progression in an experimental model of Huntington's disease., [RefSeq, PubMed]; Exosomes secreted from cancer-associated fibroblasts elicit anti-pyrimidine drug resistance through modulation of its transporter in malignant lymphoma., [RefSeq, PubMed]; Functional nucleoside transporter in stable and transient transfection studies in mammalian cells., [RefSeq, PubMed]; Hypoxia did not change expression of either hENT1, hENT2, or TK1., [RefSeq, PubMed]; Non functional nucleoside transporter protein for adenosine or thymidine transport. Does not express on cell membrane., [UniProtKB, PubMed]; Remdesivir and EIDD-1931 Interact with Human Equilibrative Nucleoside Transporters 1 and 2: Implications for Reaching SARS-CoV-2 Viral Sanctuary Sites., [RefSeq, PubMed]; The uptake of nucleosides by transporters, such as SLC29A2, is essential for nucleotide synthesis by salvage pathways in cells that lack de novo biosynthetic pathways. Nucleoside transport also plays a key role in the regulation of many physiologic processes through its effect on adenosine concentration at the cell surface (Griffiths et al., 1997 [PubMed 9396714]).[supplied by OMIM, Nov 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KPY7;G5E943;O43530;Q52M84;Q96R00;Q9UPE0", "ec_number_list": [], "go_molecular_function": "GO:0005326 neurotransmitter transmembrane transporter activity;GO:0015205 nucleobase transmembrane transporter activity;GO:0015212 cytidine transmembrane transporter activity;GO:0015213 uridine transmembrane transporter activity;GO:0015211 purine nucleoside transmembrane transporter activity", "go_cellular_component": "GO:0005730 nucleolus;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0015851 nucleobase transport;GO:0015861 cytidine transport;GO:0015858 nucleoside transport;GO:0015860 purine nucleoside transmembrane transport;GO:0015862 uridine transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "Q14542-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q15043-1", "uniprot_id": [ { "id": "S39AE_HUMAN", "url": "https://www.uniprot.org/uniprot/Q15043", "type": "external" } ], "mass": 54212.0, "length": 492, "protein_name": "Metal cation symporter ZIP14", "gene_name": "SLC39A14", "organism": "Human", "refseq_name": "metal cation symporter ZIP14 isoform a precursor", "refseq_ac": [ { "id": "NP_001121903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121903", "type": "external" } ], "gene_names_uniprotkb": "SLC39A14; KIAA0062; ZIP14", "gene_names_refseq": "HCIN; HMNDYT2; LZT-Hs4; NET34; SLC39A14; ZIP14; cig19", "protein_names_uniprotkb": "Metal cation symporter ZIP14; LIV-1 subfamily of ZIP zinc transporter 4; LZT-Hs4; Solute carrier family 39 member 14; ZIP-14; Zrt- and Irt-like protein 14", "protein_names_refseq": "LIV-1 subfamily of ZIP zinc transporter 4; Zinc transporter ZIP14; Zrt-, Irt-like protein 14; metal cation symporter ZIP14 isoform a precursor; metal cation symporter ZIP14; solute carrier family 39 (metal ion transporter), member 14; solute carrier family 39 (zinc transporter), member 14; zinc transporter 14; zrt- and Irt-like protein 14", "tax_id": 9606, "disease": "hypermanganesemia with dystonia 2 (Disease Ontology:DOID:0080537); hyperostosis cranialis interna (MONDO:MONDO:0007765)", "pathway": " (hsa:23516); (R-HSA-442380)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "10.1101/2023.09.13.557529;10364181;10610721;10681536;11237011;11301334;12032886;12068297;12659941;12839489;14525538;15322118;15642354;15863613;16638970;16804107;17359283;17550612;18003899;18270315;18390834;19159218;19265717;19349973;19755388;20682781;21654843;23052185;23328677;24190977;24715725;24927598;25502872;25892735;27231142;27703010;27846572;28467828;28673968;28904123;29242379;29317506;29437277;29557506;29621230;30379171;30429286;31028174;31699897;31844290;32157095;32350084;32357974;32387766;32897882;32938616;33298915;33592498;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34357683;34405274;34433824;34509645;35051231;35154160;35251023;35787370;36010968;36062189;36215666;36241641;36284347;36361624;37074911", "class_list": "", "function": "Calcium and the Ca-ATPase SPCA1 modulate plasma membrane abundance of ZIP8 and ZIP14 to regulate Mn(II) uptake in brain microvascular endothelial cells., [RefSeq, PubMed]; Circ_000829 Plays an Anticancer Role in Renal Cell Carcinoma by Suppressing SRSF1-Mediated Alternative Splicing of SLC39A14. Publication Status: Online-Only, [RefSeq, PubMed]; Electroneutral transporter of the plasma membrane mediating the cellular uptake of the divalent metal cations zinc, manganese and iron that are important for tissue homeostasis, metabolism, development and immunity (PubMed:15642354, PubMed:27231142, PubMed:29621230). Functions as an energy-dependent symporter, transporting through the membranes an electroneutral complex composed of a divalent metal cation and two bicarbonate anions (By similarity). Beside these endogenous cellular substrates, can also import cadmium a non-essential metal which is cytotoxic and carcinogenic (By similarity). Controls the cellular uptake by the intestinal epithelium of systemic zinc, which is in turn required to maintain tight junctions and the intestinal permeability (By similarity). Modifies the activity of zinc-dependent phosphodiesterases, thereby indirectly regulating G protein-coupled receptor signaling pathways important for gluconeogenesis and chondrocyte differentiation (By similarity). Regulates insulin receptor signaling, glucose uptake, glycogen synthesis and gluconeogenesis in hepatocytes through the zinc-dependent intracellular catabolism of insulin (PubMed:27703010). Through zinc cellular uptake also plays a role in the adaptation of cells to endoplasmic reticulum stress (By similarity). Major manganese transporter of the basolateral membrane of intestinal epithelial cells, it plays a central role in manganese systemic homeostasis through intestinal manganese uptake (PubMed:31028174). Also involved in manganese extracellular uptake by cells of the blood-brain barrier (PubMed:31699897). May also play a role in manganese and zinc homeostasis participating in their elimination from the blood through the hepatobiliary excretion (By similarity). Also functions in the extracellular uptake of free iron. May also function intracellularly and mediate the transport from endosomes to cytosol of iron endocytosed by transferrin (PubMed:20682781). Plays a role in innate immunity by regulating the expression of cytokines by activated macrophages (PubMed:23052185)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed]; Hereditary Disorders of Manganese Metabolism: Pathophysiology of Childhood-Onset Dystonia-Parkinsonism in SLC39A14 Mutation Carriers and Genetic Animal Models. Review article Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the the SLC39A family of divalent metal transporters that mediates the cellular uptake of manganese, zinc, iron, and cadmium. The encoded protein contains eight transmembrane domains, a histidine-rich motif, and a metalloprotease motif, and is expressed on the plasma membrane and the endocytic vesicle membrane. It is an important transporter of nontransferrin-bound iron and a critical regulator of manganese homeostasis. Naturally occurring mutations in this gene are associated with neurodegeneration with brain iron accumulation and early-onset parkinsonism-dystonia with hypermanganesemia. [provided by RefSeq, May 2017]., [RefSeq]; ZIP14 (SLC39A14)was shown to function as a zinc influx transporter in a temperature-dependant manner., [RefSeq, PubMed]; Zip14 expression is up-regulated through IL-6, [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": 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": 3, "reported_glycation": 0, "reported_snv": 5, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 22, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "A6NH98;B4DIW3;B6EU88;D3DSR4;Q6ZME8;Q96BB3", "ec_number_list": [], "go_molecular_function": "GO:0005385 zinc ion transmembrane transporter activity;GO:0005384 manganese ion transmembrane transporter activity;GO:0015086 cadmium ion transmembrane transporter activity;GO:0015093 ferrous iron transmembrane transporter activity;GO:0005381 iron ion transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0005765 lysosomal membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0071577 zinc ion transmembrane transport;GO:0034755 iron ion transmembrane transport;GO:0032869 cellular response to insulin stimulus;GO:0045745 positive regulation of G protein-coupled receptor signaling pathway;GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "Q15043-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M3R5-1", "uniprot_id": [ { "id": "S35G1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M3R5", "type": "external" } ], "mass": 39836.0, "length": 365, "protein_name": "Solute carrier family 35 member G1", "gene_name": "SLC35G1", "organism": "Human", "refseq_name": "solute carrier family 35 member G1 isoform 1", "refseq_ac": [ { "id": "NP_001128130", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001128130", "type": "external" } ], "gene_names_uniprotkb": "SLC35G1; C10orf60; POST; TMEM20", "gene_names_refseq": "C10orf60; POST; SLC35G1; TMEM20", "protein_names_uniprotkb": "Solute carrier family 35 member G1; Partner of STIM1; Transmembrane protein 20", "protein_names_refseq": "partner of STIM1; solute carrier family 35 member G1 isoform 1; transmembrane protein 20", "tax_id": 9606, "disease": "", "pathway": " (hsa:159371)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;22084111;27862975;28832583;29242379;29557506;29666234;30429286;31844290;32157095;33912179;34171305;34357683;35051231;36284347;37393044;39508819", "class_list": "", "function": "Chloride-sensitive citrate transporter localized on the basolateral membrane of enterocytes that mediates efflux of citrate into the bloodstream (PubMed:39508819). May also play a role in intracellular calcium sensing and homeostasis by acting as a negative regulator of plasma membrane calcium-transporting ATPases, thereby preventing calcium efflux from the cell (PubMed:22084111)., [UniProtKB, PubMed, PubMed]; Discovery and Validation of Novel Genes in a Large Chinese Autism Spectrum Disorder Cohort., [RefSeq, PubMed]; Results suggest that ubiquitinated proteins are exported from the nucleus to the cytosol in the UBIN-POST complex-dependent manner for the maintenance of nuclear protein homeostasis., [RefSeq, PubMed]; SLC35G1 is a highly chloride-sensitive transporter responsible for the basolateral membrane transport in intestinal citrate absorption. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transmembrane protein which is a member of the drug/metabolite transporter protein superfamily. The encoded protein may play a role in the regulation of calcium levels inside the cell. [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": 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": "Q86YG5;Q8NBA5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0051480 regulation of cytosolic calcium ion concentration;GO:1990034 calcium ion export across plasma membrane", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "Q2M3R5-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q495N2-1", "uniprot_id": [ { "id": "S36A3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q495N2", "type": "external" } ], "mass": 51735.0, "length": 470, "protein_name": "Proton-coupled amino acid transporter 3", "gene_name": "SLC36A3", "organism": "Human", "refseq_name": "proton-coupled amino acid transporter 3 isoform 1", "refseq_ac": [ { "id": "NP_001138489", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138489", "type": "external" } ], "gene_names_uniprotkb": "SLC36A3; PAT3; TRAMD2", "gene_names_refseq": "PAT3; SLC36A3; TRAMD2; tramdorin2", "protein_names_uniprotkb": "Proton-coupled amino acid transporter 3; Proton/amino acid transporter 3; Solute carrier family 36 member 3; Tramdorin-2", "protein_names_refseq": "proton-coupled amino acid transporter 3 isoform 1; proton-coupled amino acid transporter 3; proton/amino acid transporter 3; solute carrier family 36 (proton/amino acid symporter), member 3; tramdorin 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:285641)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "12809675;15058382;19910524;29557506;29632711;31092671;31844290;33968037", "class_list": "", "function": "Lysophosphatidic acid stimulates apical Cl(-)/OH(-) exchange activity and surface levels of SLC36A3 and SLC26A6 in intestinal epithelial cells, [RefSeq, PubMed]; PAT3 was isolated and identified, but its function is not yet known., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "Q495N3;Q6ZMU7;Q6ZRU4;Q7Z6B4", "ec_number_list": [], "go_molecular_function": "GO:0015180 L-alanine transmembrane transporter activity;GO:0015187 glycine transmembrane transporter activity;GO:0015193 L-proline transmembrane transporter activity;GO:0005280 amino acid:proton symporter activity", "go_cellular_component": "GO:0005774 vacuolar membrane", "go_biological_process": "GO:0015816 glycine transport;GO:0035524 proline transmembrane transport;GO:0015808 L-alanine transport;GO:1902600 proton transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q495N2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q658L1-1", "uniprot_id": [ { "id": "SAXO2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q658L1", "type": "external" } ], "mass": 45933.0, "length": 398, "protein_name": "Stabilizer of axonemal microtubules 2", "gene_name": "SAXO2", "organism": "Human", "refseq_name": "stabilizer of axonemal microtubules 2 isoform c", "refseq_ac": [ { "id": "NP_001008227", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001008227", "type": "external" } ], "gene_names_uniprotkb": "SAXO2; FAM154B", "gene_names_refseq": "FAM154B; SAXO2", "protein_names_uniprotkb": "Stabilizer of axonemal microtubules 2", "protein_names_refseq": "family with sequence similarity 154, member B; protein FAM154B; stabilizer of axonemal microtubules 2 isoform c", "tax_id": 9606, "disease": "", "pathway": " (hsa:283726)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;34171305;38253038;38538594", "class_list": "", "function": "", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4E2M2", "ec_number_list": [], "go_molecular_function": "GO:0008017 microtubule binding", "go_cellular_component": "GO:0005856 cytoskeleton;GO:0036126 sperm flagellum;GO:0005814 centriole;GO:0036064 ciliary basal body;GO:0005879 axonemal microtubule", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q658L1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6AZY7-1", "uniprot_id": [ { "id": "SCAR3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6AZY7", "type": "external" } ], "mass": 65137.0, "length": 606, "protein_name": "Scavenger receptor class A member 3", "gene_name": "SCARA3", "organism": "Human", "refseq_name": "scavenger receptor class A member 3 isoform 1", "refseq_ac": [ { "id": "NP_057324", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057324", "type": "external" } ], "gene_names_uniprotkb": "SCARA3; CSR", "gene_names_refseq": "APC7; CSR1; CSR; MSLR1; MSRL1; SCARA3", "protein_names_uniprotkb": "Scavenger receptor class A member 3; Cellular stress response gene protein", "protein_names_refseq": "cellular stress response gene protein; cellular stress response protein; macrophage scavenger receptor-like 1; scavenger receptor class A member 3 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:51435)", "pathway_count": 1, "publication_count": 29, "publication_id_list": "10.1101/2023.09.13.557529;16436673;18806823;20485444;26992070;29557506;29786170;30429286;31154438;31844290;31848261;32488085;32938616;33318306;33592498;34171305;34586953;34846842;35051231;35289036;35578316;35580925;36010968;36215666;36241641;37074911;37217939;37340703;9580669", "class_list": "", "function": "CSR1 appears to induce cell death through a novel mechanism by hijacking a critical RNA processing enzyme CPSF3., [RefSeq, PubMed]; DICER-AS1 functions as competing endogenous RNA that targets CSR1 by sponging microRNA-650 and suppresses gastric cancer progression., [RefSeq, PubMed]; Down-regulation of CSR1 protein expression by promoter methylation is associated with tumor growth and metastasis of prostate cancer, [RefSeq, PubMed]; Identification of SCARA3 with potential roles in metabolic disorders., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SCARA3 inhibits cell proliferation and EMT through AKT signaling pathway in lung cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Seems to protect cells by scavenging oxidative molecules or harmful products of oxidation., [UniProtKB, PubMed]; This gene encodes a macrophage scavenger receptor-like protein. This protein has been shown to deplete reactive oxygen species, and thus play an important role in protecting cells from oxidative stress. The expression of this gene is induced by oxidative stress. Alternatively spliced transcript variants encoding distinct isoforms have been described. [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": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 8, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "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": 36, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 11, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "Q9UM15;Q9UM16", "ec_number_list": [], "go_molecular_function": "GO:0005044 scavenger receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0009650 UV protection", "synthesized_glycan_count": 0, "hit_score": 5.2, "record_id": "Q6AZY7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P1M0-1", "uniprot_id": [ { "id": "S27A4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P1M0", "type": "external" } ], "mass": 72064.0, "length": 643, "protein_name": "Long-chain fatty acid transport protein 4", "gene_name": "SLC27A4", "organism": "Human", "refseq_name": "long-chain fatty acid transport protein 4", "refseq_ac": [ { "id": "NP_005085", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005085", "type": "external" } ], "gene_names_uniprotkb": "SLC27A4; ACSVL4; FATP4", "gene_names_refseq": "ACSVL4; FATP4; IPS; SLC27A4", "protein_names_uniprotkb": "Long-chain fatty acid transport protein 4; 6.2.1.-; 6.2.1.15; 6.2.1.3; ACSVL4; Arachidonate--CoA ligase; FATP-4; Fatty acid transport protein 4; Long-chain-fatty-acid--CoA ligase; Solute carrier family 27 member 4; Very long-chain acyl-CoA synthetase 4", "protein_names_refseq": "acyl-CoA synthetase very long chain family member 4; arachidonate--CoA ligase; long-chain fatty acid transport protein 4; long-chain-fatty-acid--CoA ligase; solute carrier family 27 (fatty acid transporter), member 4; very long-chain acyl-CoA synthetase 4", "tax_id": 9606, "disease": "restrictive dermopathy (Disease Ontology:DOID:0060762); steatotic liver disease (Disease Ontology:DOID:9452); obesity (Disease Ontology:DOID:9970); ichthyosis prematurity syndrome (MONDO:MONDO:0012089)", "pathway": " (hsa:10999); (R-HSA-5619108); (R-HSA-804914)", "pathway_count": 3, "publication_count": 40, "publication_id_list": "10.1101/2023.09.13.557529;10518211;12235169;12556534;14715877;16504339;19631310;19946382;20124557;20448275;20815031;21395585;22022213;24269233;25418920;25576301;26811146;27862975;28228285;28904123;29314611;29632046;31154438;31844290;32157095;32357974;32488085;33912179;33968037;3453108;35051231;35580925;36010968;36241641;36924851;37290445;37938771;7684291;7918467;9878842", "class_list": "", "function": "Mediates the levels of long-chain fatty acids (LCFA) in the cell by facilitating their transport across cell membranes (PubMed:10518211, PubMed:12556534, PubMed:20448275, PubMed:21395585, PubMed:22022213). Appears to be the principal fatty acid transporter in small intestinal enterocytes (PubMed:20448275). Also functions as an acyl-CoA ligase catalyzing the ATP-dependent formation of fatty acyl-CoA using LCFA and very-long-chain fatty acids (VLCFA) as substrates, which prevents fatty acid efflux from cells and might drive more fatty acid uptake (PubMed:22022213, PubMed:24269233). Plays a role in the formation of the epidermal barrier. Required for fat absorption in early embryogenesis (By similarity). Probably involved in fatty acid transport across the blood barrier (PubMed:21395585). Indirectly inhibits RPE65 via substrate competition and via production of VLCFA derivatives like lignoceroyl-CoA. Prevents light-induced degeneration of rods and cones (By similarity)., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; PLIN5 interacts with FATP4 at membrane contact sites to promote lipid droplet-to-mitochondria fatty acid transport., [RefSeq, PubMed]; SLC27A4-mediated selective uptake of mono-unsaturated fatty acids promotes ferroptosis defense in hepatocellular carcinoma., [RefSeq, PubMed]; This gene encodes a member of a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [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": 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": 19, "reported_interactions": 0, "missing_score": 9507, "biomarker_type": "", "glycan_count": 2, "disease_count": 4, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8K2F7;O95186;Q96G53", "ec_number_list": [ { "id": "6.2.1.3", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3", "type": "external" }, { "id": "6.2.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.-", "type": "external" }, { "id": "6.2.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.7", "type": "external" }, { "id": "6.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.24", "type": "external" }, { "id": "6.2.1.15", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.15", "type": "external" }, { "id": "6.2.1.2", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.2", "type": "external" }, { "id": "6.2.1.25", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.25", "type": "external" }, { "id": "6.2.1.76", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.76", "type": "external" } ], "go_molecular_function": "GO:0015245 fatty acid transmembrane transporter activity;GO:0005324 long-chain fatty acid transmembrane transporter activity;GO:0000166 nucleotide binding;GO:0004467 long-chain fatty acid-CoA ligase activity;GO:0031957 very long-chain fatty acid-CoA ligase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0031526 brush border membrane", "go_biological_process": "GO:0046627 negative regulation of insulin receptor signaling pathway;GO:1990379 lipid transport across blood-brain barrier;GO:0001676 long-chain fatty acid metabolic process;GO:0006631 fatty acid metabolic process;GO:0007584 response to nutrient", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q6P1M0-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZR62-1", "uniprot_id": [ { "id": "RTL4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZR62", "type": "external" } ], "mass": 34685.0, "length": 310, "protein_name": "Retrotransposon Gag-like protein 4", "gene_name": "RTL4", "organism": "Human", "refseq_name": "retrotransposon Gag-like protein 4", "refseq_ac": [ { "id": "NP_001004308", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004308", "type": "external" } ], "gene_names_uniprotkb": "RTL4; MAR3; MART4; ZCCHC16", "gene_names_refseq": "Mar4; Mart4; RTL4; SIRH11; SIRH1; ZCCHC16", "protein_names_uniprotkb": "Retrotransposon Gag-like protein 4; Mammalian retrotransposon-derived protein 4; Zinc finger CCHC domain-containing protein 16", "protein_names_refseq": "Sushi-Ichi retrotransposon homolog 11; mammalian retrotransposon-derived 4; mammalian retrotransposon-derived protein 4; retrotransposon Gag-like protein 4; zinc finger CCHC domain-containing protein 16; zinc finger CCHC-type containing 16; zinc finger, CCHC domain containing 16", "tax_id": 9606, "disease": "", "pathway": " (hsa:340595)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "16093683;19260141;31844290", "class_list": "", "function": "Involved in cognitive function in the brain, possibly via the noradrenergic system., [UniProtKB, UniProtKB]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B2RPG1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q6ZR62-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZUB1-1", "uniprot_id": [ { "id": "S31E1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZUB1", "type": "external" } ], "mass": 157136.0, "length": 1445, "protein_name": "Spermatogenesis-associated protein 31E1", "gene_name": "SPATA31E1", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 31E1", "refseq_ac": [ { "id": "NP_849150", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_849150", "type": "external" } ], "gene_names_uniprotkb": "SPATA31E1; C9orf79; FAM75E1", "gene_names_refseq": "C9orf79; FAM75E1; SPATA31E1", "protein_names_uniprotkb": "Spermatogenesis-associated protein 31E1; Protein FAM75E1", "protein_names_refseq": "FAM75-like protein C9orf79; XXyac-YM21GA2.5; family with sequence similarity 75, member E1; protein FAM75E1; spermatogenesis-associated protein 31E1", "tax_id": 9606, "disease": "", "pathway": " (hsa:286234)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "27893789;29242379;32387766;33592498;35051231", "class_list": "", "function": "May play a role in spermatogenesis., [UniProtKB]", "predicted_glycosites": 4, "predicted_n_glycosites": 4, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 51, "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": "B2RPB1;Q5SQC9;Q8NA41;Q8ND27", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q6ZUB1-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q70HW3-1", "uniprot_id": [ { "id": "SAMC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q70HW3", "type": "external" } ], "mass": 29354.0, "length": 274, "protein_name": "Mitochondrial S-adenosylmethionine carrier protein", "gene_name": "SLC25A26", "organism": "Human", "refseq_name": "mitochondrial S-adenosylmethionine carrier protein isoform b", "refseq_ac": [ { "id": "NP_001158268", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158268", "type": "external" } ], "gene_names_uniprotkb": "SLC25A26; SAMC", "gene_names_refseq": "COXPD28; SAMC; SLC25A26", "protein_names_uniprotkb": "Mitochondrial S-adenosylmethionine carrier protein; SAM carrier; Solute carrier family 25 member 26", "protein_names_refseq": "S-adenosylmethionine mitochondrial carrier protein; SAM carrier; mitochondrial S-adenosylmethionine carrier protein isoform b; mitochondrial S-adenosylmethionine carrier protein; mitochondrial S-adenosylmethionine transporter; phosphate carrier), member 26; solute carrier family 25 (S-adenosylmethionine carrier), member 26; solute carrier family 25 (mitochondrial carrier", "tax_id": 9606, "disease": "combined oxidative phosphorylation deficiency 28 (Disease Ontology:DOID:0111470)", "pathway": " (hsa:115286); (R-HSA-549127)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10072434;10196521;10966924;11237011;12089149;12372408;12384147;14608356;14674884;15107849;15184985;15795384;16330770;16788146;16807400;17509534;23266187;26522469;27920218;28118529;28832583;29242379;29393594;29632046;31844290;32387766;32488085;32502341;32938616;33912179;33968037;34171305;34375635;35024855;36241641;7989337;8647271;9260930;9520460;9655880;9685390;9744804", "class_list": "", "function": "Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; Identification and characterization of novel compound variants in SLC25A26 associated with combined oxidative phosphorylation deficiency 28., [RefSeq, PubMed]; Mitochondrial S-adenosyl-L-methionine/S-adenosyl-L-homocysteine antiporter. Mediates the exchange of cytosolic S-adenosyl-L-methionine, the predominant methyl-group donor for macromolecule methylation processes, for mitochondrial S-adenosylhomocysteine(SAH), a by-product of methylation reactions., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Overexpression of SLC25A26 in CaSki cells increases mitochondrial SAM availability and promotes hypermethylation of mitochondrial DNA, leading to decreased expression of key respiratory complex subunits, reduction of mitochondrial ATP and release of cytochrome c., [RefSeq, PubMed]; SAMC was expressed in mitochondria of all human tissues examined. The role of SAMC is probably to exchange cytosolic SAM for mitochondrial S-adenosylhomocysteine. This is the 1st report of identification & characterization of the human SAMC & its gene., [RefSeq, PubMed]; SLC25A26 mutations cause various mitochondrial defects, including those affecting RNA stability, protein modification, mitochondrial translation, and the biosynthesis of CoQ10 and lipoic acid., [RefSeq, PubMed]; This gene is a member of the mitochondrial carrier family which includes nuclear-encoded transporters localized on the inner mitochondrial membranes. Members of the family transport important small molecules across the mitochondrial inner membrane. This protein is involved in the transport of S-adenosylmethionine (SAM) into the mitochondria. Mutations in this gene are associated with combined oxidative phosphorylation deficiency 28. Alternative splicing results in multiple transcript variants encoding different isoforms. [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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A8K758;B3KRZ7;F8WAB8;Q7Z786;Q96E68", "ec_number_list": [], "go_molecular_function": "GO:0000095 S-adenosyl-L-methionine transmembrane transporter activity;GO:0180003 S-adenosyl-L-methionine:S-adenosyl-L-homocysteine antiporter activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0016020 membrane", "go_biological_process": "GO:0015805 S-adenosyl-L-methionine transport;GO:0015837 amine transport;GO:0043414 macromolecule methylation;GO:1990543 mitochondrial S-adenosyl-L-methionine transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "Q70HW3-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7LBE3-1", "uniprot_id": [ { "id": "S26A9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7LBE3", "type": "external" } ], "mass": 86988.0, "length": 791, "protein_name": "Solute carrier family 26 member 9", "gene_name": "SLC26A9", "organism": "Human", "refseq_name": "solute carrier family 26 member 9 isoform a", "refseq_ac": [ { "id": "NP_443166", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_443166", "type": "external" } ], "gene_names_uniprotkb": "SLC26A9", "gene_names_refseq": "SLC26A9", "protein_names_uniprotkb": "Solute carrier family 26 member 9; Anion transporter/exchanger protein 9", "protein_names_refseq": "anion transporter/exchanger protein 9; anion transporter/exchanger-9; solute carrier family 26 (anion exchanger), member 9; solute carrier family 26 member 9 isoform a", "tax_id": 9606, "disease": "gastrointestinal system disease (Disease Ontology:DOID:77)", "pathway": " (hsa:115019); (R-HSA-427601)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "11247665;11829495;11834742;12626430;15155570;15591059;15800055;16914891;17120765;17673510;22544634;24051746;24715725;26801567;27920218;28832583;29242379;29351928;30524438;31844290;32818062;32897882;34211107;35051231;35426084;37068695;37686084;38773769;38852790;7683425;8896562", "class_list": "glycogene", "function": "Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi(R) (Lumacaftor and Ivacaftor) response in vitro., [RefSeq, PubMed]; Ion transporter that can act both as an ion channel and anion exchanger (PubMed:15800055, PubMed:17673510, PubMed:26801567, PubMed:32818062). Mainly acts as a chloride channel, which mediate uncoupled chloride anion transport in an alternate-access mechanism where a saturable binding site is alternately exposed to either one or the other side of the membrane (PubMed:17673510, PubMed:26801567, PubMed:32818062). Also acts as a DIDS- and thiosulfate- sensitive anion exchanger the exchange of chloride for bicarbonate ions across the cell membrane (PubMed:11834742, PubMed:15800055)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Pathogenic Relationships in Cystic Fibrosis and Renal Diseases: CFTR, SLC26A9 and Anoctamins. Review article Publication Status: Online-Only, [RefSeq, PubMed]; SLC26A9 deficiency causes gastric intraepithelial neoplasia in mice and aggressive gastric cancer in humans., [RefSeq, PubMed]; SLC26A9 is a highly selective Cl(-) channel with minimal OH(-)/HCO(3)(-) permeability that is regulated by the WNK kinases., [RefSeq, PubMed]; Slc26a9 functions as an electrogenic nCl-/HCO3- exchanger, suggesting a role in pulmonary and gastric HCO3- secretion and/or CO2 transport., [RefSeq, PubMed]; The role of the STAS domain in SLC26A9 for chloride ion transporter function., [RefSeq, PubMed]; The solute carrier family 26 member 9 modifies rapidly progressing cystic fibrosis associated with homozygous F508del CFTR mutation., [RefSeq, PubMed]; This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. The product of this gene is a highly selective chloride ion channel regulated by WNK kinases. Alternative splicing results in multiple transcript variants encoding differing 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 987, "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": "A7E2V6;B1AVM8;B1AVM9;B7ZKK2;Q96PK9;Q96RN0", "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:0051117 ATPase binding;GO:0005254 chloride channel activity;GO:0005452 solute:inorganic anion antiporter activity;GO:0019531 oxalate transmembrane transporter activity;GO:0015116 sulfate transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0070062 extracellular exosome;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0010628 positive regulation of gene expression;GO:0055085 transmembrane transport;GO:0006821 chloride transport;GO:1902476 chloride transmembrane transport;GO:0006820 monoatomic anion transport", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q7LBE3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z3Q1-1", "uniprot_id": [ { "id": "S46A3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z3Q1", "type": "external" } ], "mass": 51519.0, "length": 461, "protein_name": "Lysosomal proton-coupled steroid conjugate and bile acid symporter SLC46A3", "gene_name": "SLC46A3", "organism": "Human", "refseq_name": "lysosomal proton-coupled steroid conjugate and bile acid symporter SLC46A3 isoform b precursor", "refseq_ac": [ { "id": "NP_001129391", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129391", "type": "external" } ], "gene_names_uniprotkb": "SLC46A3; FKSG16", "gene_names_refseq": "FKSG16; SLC46A3", "protein_names_uniprotkb": "Lysosomal proton-coupled steroid conjugate and bile acid symporter SLC46A3; Solute carrier family 46 member 3", "protein_names_refseq": "lysosomal proton-coupled steroid conjugate and bile acid symporter SLC46A3 isoform b precursor; lysosomal proton-coupled steroid conjugate and bile acid symporter SLC46A3", "tax_id": 9606, "disease": "", "pathway": " (hsa:283537)", "pathway_count": 1, "publication_count": 22, "publication_id_list": "26631267;26811146;27893789;29242379;29393594;29557506;29769354;30131388;30524438;30779550;31092671;31844290;32157095;32938616;33141586;33392160;33592498;34235268;34357683;35051231;35862544;36741448", "class_list": "", "function": "Lysosomal proton-coupled steroid conjugate and bile acid transporter. Preferentially recognizes lipophilic steroid conjugates or bile acis as endogenous substrates and seems to mediate escape from lysosomes to the cytoplasm (PubMed:36741448). Modulates hepatic cytosolic copper homeostasis, maybe acting as a lysosomal copper transporter and sequestering copper ions in the lysosome (By similarity). Transports catabolites of non-cleavable antibody-drug conjugates from the lysosome to the cytoplasm (PubMed:26631267, PubMed:30131388, PubMed:36741448). Delivers pathogen-associated molecular patterns to cytosolic pattern recognition receptors as part of the innate immune response to microbes. Selectively transports bacterial muramyl dipeptide (MDP) into the cytosol for recognition by NOD2, triggering inflammatory responses (By similarity). Likely acts as a redundant importer of cyclic GMP-AMP dinucleotides (cGAMPs) in monocyte and macrophage cell lineages (PubMed:34235268). The transport mechanism, its electrogenicity and stoichiometry remain to be elucidated (Probable)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Our results establish SLC46A3 as a direct transporter of maytansine-based catabolites from the lysosome to the cytoplasm, [RefSeq, PubMed]; The protein encoded by this gene is a member of a transmembrane protein family that transports small molecules across membranes. The encoded protein has been found in lysosomal membranes, where it can transport catabolites from the lysosomes to the cytoplasm. This protein has been shown to be an effective transporter of the cytotoxic drug maytansine, which is used in antibody-based targeting of cancer cells. [provided by RefSeq, Dec 2016]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 18, "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": "Q3ZCV8;Q6NUK5;Q6P9B3;Q6ZVG5;Q96QA1", "ec_number_list": [], "go_molecular_function": "GO:0022857 transmembrane transporter activity;GO:0015293 symporter activity;GO:0005375 copper ion transmembrane transporter activity", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0005765 lysosomal membrane", "go_biological_process": "GO:1904613 cellular response to 2,3,7,8-tetrachlorodibenzodioxine;GO:0034486 vacuolar transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q7Z3Q1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86SK9-1", "uniprot_id": [ { "id": "SCD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86SK9", "type": "external" } ], "mass": 37610.0, "length": 330, "protein_name": "Stearoyl-CoA desaturase 5", "gene_name": "SCD5", "organism": "Human", "refseq_name": "stearoyl-CoA desaturase 5 isoform a", "refseq_ac": [ { "id": "NP_001032671", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032671", "type": "external" } ], "gene_names_uniprotkb": "SCD5; ACOD4; SCD2; SCD4", "gene_names_refseq": "ACOD4; DFNA79; FADS4; HSCD5; SCD2; SCD4; SCD5", "protein_names_uniprotkb": "Stearoyl-CoA desaturase 5; 1.14.19.1; Acyl-CoA-desaturase 4; HSCD5; Stearoyl-CoA 9-desaturase; Stearoyl-CoA desaturase 2", "protein_names_refseq": "acyl-CoA-desaturase 4; stearoyl-CoA 9-desaturase; stearoyl-CoA desaturase 2; stearoyl-CoA desaturase 4; stearoyl-CoA desaturase 5 isoform a", "tax_id": 9606, "disease": "autosomal dominant nonsyndromic deafness 79 (Disease Ontology:DOID:0112160); restrictive cardiomyopathy (Disease Ontology:DOID:397)", "pathway": " (hsa:79966); (R-HSA-75105); (R-HSA-9619665)", "pathway_count": 3, "publication_count": 150, "publication_id_list": "10203854;10220111;10229681;10400691;10727776;10757804;10856243;11115854;11133365;11157804;11356866;11394999;11430795;11430802;11734543;11782409;12056842;12145339;12198163;12689621;12727354;12782656;12799134;13651131;1371749;14512514;14522948;14664827;15150276;15189448;15356632;15610069;15668256;15695336;15836632;15907797;16136673;16311519;16319321;16373334;16854592;16923174;1704008;17325040;17699610;17898086;17959798;17978863;18455495;18634568;18803322;19143832;19156870;19321787;19571038;19745155;1975954;19922439;20149798;20213556;20470824;20625412;20832498;21044070;21326363;21411665;21423190;21423191;21613327;21653862;22053691;22102020;22180461;22333914;22465940;22492709;22745828;22764250;22814607;23481700;23695165;23700546;23747866;23874858;23932781;24191038;24227709;24286864;24646194;24675079;25203508;25576301;25974668;26423937;26441514;26992070;27220739;27288457;27846572;27859941;27892461;27920218;28218747;28834231;28852375;29242379;29557506;29748249;29786170;30410026;31154438;31844290;31848261;31972369;32157095;32387766;33049404;33091337;33717175;33903614;33912179;33968037;35051231;36059459;36292669;36581221;37047490;3805044;5810867;627544;7567999;7732023;7901201;7909540;7916016;7925941;7935840;8138712;8349731;8619637;8627307;8647822;8662541;8842374;9341199;9418958;9482253;9705348;9748295;9858769", "class_list": "glycogene", "function": "A Single Nucleotide Polymorphism (rs3811792) Affecting Human SCD5 Promoter Activity Is Associated with Diabetes Mellitus. Publication Status: Online-Only, [RefSeq, PubMed]; Molecular Basis of Unequal Alternative Splicing of Human SCD5 and Its Alteration by Natural Genetic Variations. Publication Status: Online-Only, [RefSeq, PubMed]; SCD2-mediated cooperative activation of IRF3-IRF9 regulatory circuit controls type I interferon transcriptome in CD4(+) T cells. Publication Status: Online-Only, [RefSeq, PubMed]; SCD5 expression correlates with prognosis and response to neoadjuvant chemotherapy in breast cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Stearoyl-CoA desaturase (SCD; EC 1.14.99.5) is an integral membrane protein of the endoplasmic reticulum that catalyzes the formation of monounsaturated fatty acids from saturated fatty acids. SCD may be a key regulator of energy metabolism with a role in obesity and dislipidemia. Four SCD isoforms, Scd1 through Scd4, have been identified in mouse. In contrast, only 2 SCD isoforms, SCD1 (MIM 604031) and SCD5, have been identified in human. SCD1 shares about 85% amino acid identity with all 4 mouse SCD isoforms, as well as with rat Scd1 and Scd2. In contrast, SCD5 shares limited homology with the rodent SCDs and appears to be unique to primates (Wang et al., 2005 [PubMed 15907797]).[supplied by OMIM, Mar 2008]., [RefSeq]; Stearoyl-CoA desaturase 5 (SCD5), a Delta-9 fatty acyl desaturase in search of a function. Review article, [RefSeq, PubMed]; Stearoyl-CoA desaturase that utilizes O(2) and electrons from reduced cytochrome b5 to introduce the first double bond into saturated fatty acyl-CoA substrates. Catalyzes the insertion of a cis double bond at the delta-9 position into fatty acyl-CoA substrates including palmitoyl-CoA and stearoyl-CoA (PubMed:15610069, PubMed:15907797, PubMed:22745828). Gives rise to a mixture of 16:1 and 18:1 unsaturated fatty acids (PubMed:15610069, PubMed:15907797). Involved in neuronal cell proliferation and differentiation through down-regulation of EGFR/AKT/MAPK and Wnt signaling pathways (PubMed:22745828)., [UniProtKB, PubMed, PubMed, PubMed]; The identification and characterization of SCD2, and its relationship to human SCD1 and mouse SCD2, are reported., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 405, "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": "B2RPG0;Q4W5Q5;Q8NDS0;Q9H7D1", "ec_number_list": [ { "id": "1.14.19.1", "url": "https://www.rhea-db.org/rhea/?query=ec:1.14.19.1", "type": "external" }, { "id": "2.3.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.-", "type": "external" } ], "go_molecular_function": "GO:0005506 iron ion binding;GO:0004768 stearoyl-CoA 9-desaturase activity;GO:0016491 oxidoreductase activity;GO:0032896 palmitoyl-CoA 9-desaturase activity", "go_cellular_component": "GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "GO:0006636 unsaturated fatty acid biosynthetic process", "synthesized_glycan_count": 0, "hit_score": 15.1, "record_id": "Q86SK9-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IUI4-1", "uniprot_id": [ { "id": "S29P2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IUI4", "type": "external" } ], "mass": 27226.0, "length": 249, "protein_name": "Putative protein SNX29P2", "gene_name": "SNX29P2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SNX29P2; RUNDC2C", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein SNX29P2; RUN domain-containing protein 2C; Sorting nexin 29 protein pseudogene 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 15, "publication_id_list": "24190977;28832583;28904123;29242379;29393594;29437277;29632711;30315122;30410026;30429286;31844290;31848261;32350084;32502341;32983136", "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": 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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.7, "record_id": "Q8IUI4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.1000000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVJ1-1", "uniprot_id": [ { "id": "S41A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVJ1", "type": "external" } ], "mass": 54901.0, "length": 513, "protein_name": "Solute carrier family 41 member 1", "gene_name": "SLC41A1", "organism": "Human", "refseq_name": "solute carrier family 41 member 1", "refseq_ac": [ { "id": "NP_776253", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_776253", "type": "external" } ], "gene_names_uniprotkb": "SLC41A1", "gene_names_refseq": "MgtE; NPHPL2; SLC41A1", "protein_names_uniprotkb": "Solute carrier family 41 member 1", "protein_names_refseq": "solute carrier family 41 (magnesium transporter), member 1; solute carrier family 41 member 1", "tax_id": 9606, "disease": "nephronophthisis (Disease Ontology:DOID:12712); Parkinson's disease (Disease Ontology:DOID:14330); nephronophthisis-like nephropathy 2 (MONDO:MONDO:0859175)", "pathway": " (hsa:254428); (R-HSA-425410)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10625641;11734551;12810078;15692071;15713785;15804357;16984228;17211682;17486601;18367447;19021540;19452451;20683486;22031603;22341971;22341972;23661805;23976986;25319704;25418920;25892735;26355001;27074515;27612022;28218747;28222767;29769354;30315122;30484775;30755481;30779550;30833945;31844290;32357974;32387766;32938616;33392160;33592498;33968037;34087483;34171305;35051231;35154160;35163527;36010968;36215666;36241641;9207117", "class_list": "", "function": "Alzheimer's Disease-Associated SNP rs708727 in SLC41A1 May Increase Risk for Parkinson's Disease: Report from Enlarged Slovak Study. Publication Status: Online-Only, [RefSeq, PubMed]; Data report the identification and structural characterization of solute carrier family 41 member 1 (SLC41A1), a eukaryotic protein with homology to the bacterial MgtE family of potential Mg(2+) transporters., [RefSeq, PubMed]; Knockdown of SLC41A1 magnesium transporter promotes mineralization and attenuates magnesium inhibition during osteogenesis of mesenchymal stromal cells. Publication Status: Online-Only, [RefSeq, PubMed]; Na(+)/Mg(2+) ion exchanger that acts as a predominant Mg(2+) efflux system at the plasma membrane (PubMed:18367447, PubMed:22031603, PubMed:23661805, PubMed:23976986). Transporter activity is driven by the inwardly directed electrochemical gradient for Na(+) ions, thus directly depends on the extracellular Na(+) ion concentration set by Na(+)/K(+) pump (PubMed:22031603, PubMed:23661805). Generates circadian cellular Mg(2+) fluxes that feed back to regulate clock-controlled gene expression and metabolism and facilitate higher energetic demands during the day (PubMed:27074515). Has a role in regulating the activity of ATP-dependent enzymes, including those operating in Krebs cycle and the electron transport chain (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Na+-dependent Mg2+ efflux conducted by Na+/Mg2+ exchanger SLC41A1 is regulated by insulin., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SLC41A1 is a novel mammalian Mg2+ carrier, [RefSeq, PubMed]; The SLC41A1 transcript is present in many tissues, notably renal epithelial cells, and is upregulated in some tissues with magnesium deficiency., [RefSeq, PubMed]; The association of rs11240569 polymorphism in SLC41A1 gene with reduced risk of Parkinson's Disease was replicated in our 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": 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": "Q63HJ4;Q658Z5;Q659A4;Q6MZK2", "ec_number_list": [], "go_molecular_function": "GO:0061768 magnesium:sodium antiporter activity;GO:0022857 transmembrane transporter activity;GO:0015095 magnesium ion transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0015693 magnesium ion transport;GO:1903830 magnesium ion transmembrane transport;GO:0071286 cellular response to magnesium ion;GO:0030001 metal ion transport;GO:0010961 intracellular magnesium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q8IVJ1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IZD0-1", "uniprot_id": [ { "id": "SAM14_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IZD0", "type": "external" } ], "mass": 45056.0, "length": 417, "protein_name": "Sterile alpha motif domain-containing protein 14", "gene_name": "SAMD14", "organism": "Human", "refseq_name": "sterile alpha motif domain-containing protein 14 isoform 2", "refseq_ac": [ { "id": "NP_001244288", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001244288", "type": "external" } ], "gene_names_uniprotkb": "SAMD14", "gene_names_refseq": "SAMD14", "protein_names_uniprotkb": "Sterile alpha motif domain-containing protein 14; SAM domain-containing protein 14", "protein_names_refseq": "SAM domain-containing protein 14; sterile alpha motif domain-containing protein 14 isoform 2; sterile alpha motif domain-containing protein 14", "tax_id": 9606, "disease": "", "pathway": " (hsa:201191)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;30249786;30379171;32206938", "class_list": "", "function": "Hyper-N-glycosylated SAMD14 and neurabin-I as driver autoantigens of primary central nervous system lymphoma., [RefSeq, PubMed]; SAMD14 promoter hyper-methylation was significantly associated with a poor prognosis in gastric cancer., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A5D8V1;Q8N2X0", "ec_number_list": [], "go_molecular_function": "GO:0051015 actin filament binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0014069 postsynaptic density;GO:0015629 actin cytoskeleton;GO:0030425 dendrite", "go_biological_process": "GO:0007015 actin filament organization;GO:0019722 calcium-mediated signaling;GO:0031175 neuron projection development", "synthesized_glycan_count": 0, "hit_score": 0.8, "record_id": "Q8IZD0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N808-1", "uniprot_id": [ { "id": "S35G3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N808", "type": "external" } ], "mass": 35381.0, "length": 338, "protein_name": "Solute carrier family 35 member G3", "gene_name": "SLC35G3", "organism": "Human", "refseq_name": "solute carrier family 35 member G3", "refseq_ac": [ { "id": "NP_689675", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689675", "type": "external" } ], "gene_names_uniprotkb": "SLC35G3; AMAC1; TMEM21A", "gene_names_refseq": "AMAC1; SLC35G3; TMEM21A", "protein_names_uniprotkb": "Solute carrier family 35 member G3; Acyl-malonyl-condensing enzyme 1; Transmembrane protein 21A", "protein_names_refseq": "acyl-malonyl-condensing enzyme 1; protein AMAC1; solute carrier family 35 member G3; transmembrane protein 21A", "tax_id": 9606, "disease": "", "pathway": " (hsa:146861)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "17101974;23481700;34171305;35051231;35494241", "class_list": "", "function": "Testis-specific UDP-N-acetylglucosamine transporter that mediates transport of nucleotide sugars to facilitate the proper glycosylation of proteins critical for sperm function., [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": 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": "B9EGE9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8N808-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TE54-1", "uniprot_id": [ { "id": "S26A7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TE54", "type": "external" } ], "mass": 72213.0, "length": 656, "protein_name": "Anion exchange transporter", "gene_name": "SLC26A7", "organism": "Human", "refseq_name": "anion exchange transporter isoform a", "refseq_ac": [ { "id": "NP_001269285", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269285", "type": "external" } ], "gene_names_uniprotkb": "SLC26A7; SUT2", "gene_names_refseq": "SLC26A7; SUT2", "protein_names_uniprotkb": "Anion exchange transporter; Solute carrier family 26 member 7", "protein_names_refseq": "anion exchange transporter isoform a; anion exchange transporter; solute carrier family 26 (anion exchanger), member 7; solute carrier family 6 member 7; sulfate anion transporter 2; sulfate anion transporter", "tax_id": 9606, "disease": "congenital hypothyroidism (Disease Ontology:DOID:0050328)", "pathway": " (hsa:115111); (R-HSA-427601)", "pathway_count": 2, "publication_count": 32, "publication_id_list": "11237011;11247665;11829495;11834742;12626430;12736153;15155570;15591059;15956810;16524946;16914891;17504921;17673510;24051746;28832583;29242379;29671580;30333321;30379171;31154438;31372509;31848261;32119864;32387766;32486989;32726161;34593695;34944008;35051231;36284347;7683425;8896562", "class_list": "glycogene", "function": "Acts as an anion channel mediating the transport of chloride, sulfate and oxalate ions (PubMed:11834742). Mediates the transport of bromide, iodide, nitrate, gluconate, thiocyanate and bicarbonate ions (By similarity). Its permeability towards bicarbonate is weak and increases when pH is above 7 (By similarity). Mediates thiocyanate transport in retinal pigment epithelium cells (By similarity). Mediates iodide transport in the thyroid gland, playing an important role in the synthesis of thyroid hormones and the maintenance of thyroid function (PubMed:31372509). Although it is an anion channel, according to PubMed:12736153 and PubMed:32119864 it has been shown to exhibit chloride-bicarbonate exchanger activity., [UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario. Publication Status: Online-Only, [RefSeq, PubMed]; Relationships between SLC26A7 expressions and extra-thyroid metastasis of papillary thyroid carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; SLC26A7 constitutes the thiocyanate-selective anion conductance of the basolateral membrane of the retinal pigment epithelium., [RefSeq, PubMed]; The molecular cloning from human HEVEC of a 2.9-kb cDNA encoding SLC26A7, a novel member of the SLC26 (solute carrier 26) sulfate/anion exchanger family, [RefSeq, PubMed]; This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described. [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": 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": 964, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q24JS8;Q8TE53;Q96RN2", "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:0005254 chloride channel activity;GO:0015106 bicarbonate transmembrane transporter activity;GO:0019531 oxalate transmembrane transporter activity;GO:0015116 sulfate transmembrane transporter activity;GO:0140900 chloride:bicarbonate antiporter activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0019532 oxalate transport;GO:0055085 transmembrane transport;GO:0001696 gastric acid secretion;GO:0006821 chloride transport;GO:0015705 iodide transport", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q8TE54-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.000.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WUT9-1", "uniprot_id": [ { "id": "S2543_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WUT9", "type": "external" } ], "mass": 37718.0, "length": 341, "protein_name": "Solute carrier family 25 member 43", "gene_name": "SLC25A43", "organism": "Human", "refseq_name": "solute carrier family 25 member 43", "refseq_ac": [ { "id": "NP_660348", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660348", "type": "external" } ], "gene_names_uniprotkb": "SLC25A43", "gene_names_refseq": "SLC25A43", "protein_names_uniprotkb": "Solute carrier family 25 member 43", "protein_names_refseq": "solute carrier family 25 member 43", "tax_id": 9606, "disease": "", "pathway": " (hsa:203427)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "16949250;22430806;22883974;23266187;23354756;23481700;24715725;25645385;26154972;26375851;26721434;27846572;28218747;28228285;28514659;28834231;29437277;30315122;30410026;31530632;31844290;32157095;32357974;32897882;32938616;32983136;33717175;33912179;33968037;34171305;35051231;35580925", "class_list": "", "function": "Associations between site-specific methylation and clinicopathological parameters suggest that epigenetic changes in SLC25A43 gene could be of importance in breast carcinogenesis., [RefSeq, PubMed]; Compares and contrasts all the known human SLC25A* genes and includes functional information. Review article, [RefSeq, PubMed]; In line with our previous results, we show a role for SLC25A43 as a regulator of cell cycle progression and proliferation through a putative mitochondrial checkpoint., [RefSeq, PubMed]; Our findings demonstrate that the mitochondrial protein SLC25A43 affects drug efficacy and cell cycle regulation following drug exposure in breast cancer cell lines., [RefSeq, PubMed]; Our results indicate a possible role of SLC25A43 in HER2-positive breast cancer and support the hypothesis of altered mitochondrial function in cancer. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the mitochondrial carrier family of proteins.[provided by RefSeq, Dec 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "O75854;Q8N9L5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0055085 transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q8WUT9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXD0-1", "uniprot_id": [ { "id": "RXFP2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXD0", "type": "external" } ], "mass": 86453.0, "length": 754, "protein_name": "Relaxin receptor 2", "gene_name": "RXFP2", "organism": "Human", "refseq_name": "relaxin receptor 2 isoform 2", "refseq_ac": [ { "id": "NP_001159530", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159530", "type": "external" } ], "gene_names_uniprotkb": "RXFP2; GPR106; GREAT; LGR8", "gene_names_refseq": "GPR106; GREAT; INSL3R; LGR8.1; LGR8; RXFP2; RXFPR2", "protein_names_uniprotkb": "Relaxin receptor 2; G protein-coupled receptor 106; G protein-coupled receptor affecting testicular descent; Leucine-rich repeat-containing G protein-coupled receptor 8; Relaxin family peptide receptor 2", "protein_names_refseq": "G protein coupled receptor affecting testicular descent; G-protein coupled receptor 106; leucine-rich repeat-containing G-protein coupled receptor 8; relaxin receptor 2 isoform 2; relaxin/insulin like family peptide receptor 2", "tax_id": 9606, "disease": "cryptorchidism (Disease Ontology:DOID:11383)", "pathway": " (hsa:122042); (R-HSA-418555); (R-HSA-444821)", "pathway_count": 3, "publication_count": 72, "publication_id_list": "11007482;11809971;12036966;12058044;12106601;12180353;12217959;12506116;12860470;13549488;14522967;14522968;14671004;1517224;15525639;15765929;15769620;15951850;16051677;16313925;16687412;16923326;17168849;18044684;18577758;19105585;19876791;19929708;20381629;21036126;2163110;2417744;24687066;2491850;2553411;2553705;25892735;26417854;28228285;2871555;29242379;29443750;29602314;30779550;30833991;3127824;31279028;31399091;31844290;31983287;32226383;32387766;32497535;32540603;32557760;32618402;32715661;33049737;34454945;34509645;35051231;36010968;37208861;38851835;39222519;6085243;8340388;8514797;8672451;9263355;9417641;9651336", "class_list": "", "function": "Bi-allelic variants in INSL3 and RXFP2 cause bilateral cryptorchidism and male infertility., [RefSeq, PubMed]; Biallelic RXFP2 variants lead to congenital bilateral cryptorchidism and male infertility, supporting a role of RXFP2 in spermatogenesis., [RefSeq, PubMed]; Discovery of RXFP2 genetic association in resistant hypertensive men and RXFP2 antagonists for the treatment of resistant hypertension. Erratum:[Sci Rep. 2025 Mar 4;15(1):7615. doi: 10.1038/s41598-025-91682-w. PMID: 40038481] Publication Status: Online-Only, [RefSeq, PubMed]; Expression of RXFP2 receptor on human spermatozoa and the anti-apoptotic and antioxidant effects of insulin-like factor 3., [RefSeq, PubMed]; Receptor for relaxin. The activity of this receptor is mediated by G proteins leading to stimulation of adenylate cyclase and an increase of cAMP. May also be a receptor for Leydig insulin-like peptide (INSL3)., [UniProtKB]; Structural Insights into the Unique Modes of Relaxin-Binding and Tethered-Agonist Mediated Activation of RXFP1 and RXFP2., [RefSeq, PubMed]; This gene encodes a member of the GPCR (G protein-coupled, 7-transmembrane receptor) family. Mutations in this gene are associated with cryptorchidism. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]., [RefSeq]", "predicted_glycosites": 5, "predicted_n_glycosites": 5, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "B1ALE9;Q3KU23", "ec_number_list": [], "go_molecular_function": "GO:0016500 protein-hormone receptor activity;GO:0017046 peptide hormone binding;GO:0008528 G protein-coupled peptide receptor activity", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007193 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;GO:0008285 negative regulation of cell population proliferation;GO:0043066 negative regulation of apoptotic process;GO:0009755 hormone-mediated signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.3, "record_id": "Q8WXD0-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96FQ6-1", "uniprot_id": [ { "id": "S10AG_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96FQ6", "type": "external" } ], "mass": 11801.0, "length": 103, "protein_name": "Protein S100-A16", "gene_name": "S100A16", "organism": "Human", "refseq_name": "protein S100-A16", "refseq_ac": [ { "id": "NP_001303936", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303936", "type": "external" } ], "gene_names_uniprotkb": "S100A16; AAG13; S100F", "gene_names_refseq": "AAG13; DT1P1A7; S100A16; S100F", "protein_names_uniprotkb": "Protein S100-A16; Aging-associated gene 13 protein; Protein S100-F; S100 calcium-binding protein A16", "protein_names_refseq": "aging-associated gene 13 protein; aging-associated protein 13; protein S100-A16; protein S100-F", "tax_id": 9606, "disease": "", "pathway": " (hsa:140576)", "pathway_count": 1, "publication_count": 43, "publication_id_list": "14684152;15302935;17030513;20068231;21046186;25576301;26992070;27397612;27600516;27846572;28834231;29331515;29557506;29786170;29789417;30429286;30484775;30779550;31154438;31844290;31848261;32157095;32161166;32488085;32938616;33214551;33537174;33592498;33968037;34087483;34171305;34185709;35051231;35318648;35580925;36241641;36284347;37151881;37509106;37938771;38733818;38924205;39450567", "class_list": "", "function": "An Update on S100A16 in Human Cancer. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Calcium-binding protein. Binds one calcium ion per monomer (PubMed:17030513). Can promote differentiation of adipocytes (in vitro) (By similarity). Overexpression in preadipocytes increases their proliferation, enhances adipogenesis and reduces insulin-stimulated glucose uptake (By similarity)., [UniProtKB, UniProtKB, PubMed]; Resistance to gemcitabine is mediated by the circ_0036627/miR-145/S100A16 axis in pancreatic cancer., [RefSeq, PubMed]; S100 Calcium Binding Protein A16 Promotes Cell Proliferation by triggering LATS1 ubiquitin degradation mediated by CUL4A ligase to inhibit Hippo pathway in Glioma development. Publication Status: Online-Only, [RefSeq, PubMed]; S100A16 is a potential target for reshaping the tumor microenvironment in the hypoxic context of liver cancer., [RefSeq, PubMed]; S100A16 stabilizes the ITGA3-mediated ECM-receptor interaction pathway to drive the malignant properties of lung adenocarcinoma cells via binding MOV10., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K439;D3DV52;Q5RHS6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0042803 protein homodimerization activity;GO:0048306 calcium-dependent protein binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q96FQ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96JE7-1", "uniprot_id": [ { "id": "SC16B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96JE7", "type": "external" } ], "mass": 116604.0, "length": 1060, "protein_name": "Protein transport protein Sec16B", "gene_name": "SEC16B", "organism": "Human", "refseq_name": "protein transport protein Sec16B isoform 1", "refseq_ac": [ { "id": "NP_149118", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149118", "type": "external" } ], "gene_names_uniprotkb": "SEC16B; KIAA1928; LZTR2; RGPR; SEC16S", "gene_names_refseq": "LZTR2; PGPR-p117; RGPR-p117; RGPR; SEC16B; SEC16S", "protein_names_uniprotkb": "Protein transport protein Sec16B; Leucine zipper transcription regulator 2; RGPR-p117; Regucalcin gene promoter region-related protein p117; SEC16 homolog B", "protein_names_refseq": "leucine zipper transcription regulator 2; protein SEC16 homolog B; protein transport protein Sec16B isoform 1; protein transport protein Sec16B; regucalcin gene promoter region-related protein p117; regucalcin gene promotor region related protein", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:89866); (R-HSA-204005)", "pathway_count": 2, "publication_count": 81, "publication_id_list": "10445031;10559959;10679020;10747087;10788476;10825291;10903204;10982397;11035026;11237011;11285137;11306556;11605020;11927603;12070132;12235121;12244571;15037235;15302935;16303754;16495487;16624868;16912714;17005010;17038314;17192411;17287728;17316621;17562788;17684057;18843296;19164740;19638414;19656848;20545907;20679433;20966969;21478858;21532587;21689688;21768384;22013193;22157747;22355596;22424782;22675024;23378591;23479643;23698585;23864707;24119662;24275569;24917561;25202031;25406594;25492864;25586378;25619252;25892735;28649982;29437277;30026463;30315122;31844290;32357974;32938616;33141586;33298915;33958541;34211107;35051231;35295960;35580925;8221884;8620540;8663406;9094723;9150144;9177194;9307973;9647643", "class_list": "", "function": "Associations between Gene-Gene Interaction and Overweight/Obesity of 12-Month-Old Chinese Infants. Publication Status: Online-Only, [RefSeq, PubMed]; Female-Specific Susceptibility Locus in BOC and SEC16B are Associated with Adolescent Idiopathic Scoliosis., [RefSeq, PubMed]; Mammalian cells contain two distinct Sec16 homologues: a large protein Sec16L of 2154 aa and a smaller protein Sec16S of 1060 aa., [RefSeq, PubMed]; Plays a role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:17192411, PubMed:21768384, PubMed:22355596). Involved in peroxisome biogenesis. Regulates the transport of peroxisomal biogenesis factors PEX3 and PEX16 from the ER to peroxisomes (PubMed:21768384)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; SEC16B is a mammalian homolog of S. cerevisiae Sec16 that is required for organization of transitional endoplasmic reticulum (ER) sites and protein export (Bhattacharyya and Glick, 2007 [PubMed 17192411]).[supplied by OMIM, Jun 2009]., [RefSeq]; SNPs in several gene loci, including SEC16B were similarly associated (albeit not at array-wide signficance (P T is located in the intron region of SLC5A10 and is significantly associated with worse overall and disease-free survival of non-small-cell lung cancer (NSCLC) patients. The rs2257609 C>T variant does not affect the expression of SLC5A10 mRNA, but alters the mRNA expression and promoter activity of DRG2., [RefSeq, PubMed]; SGLT-5 as a kidney mannose transporter, [RefSeq, PubMed]; SGLT5 is the renal transporter for 1,5-anhydroglucitol, a major player in two rare forms of neutropenia. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the sodium/glucose transporter family. Members of this family are sodium-dependent transporters and can be divided into two subfamilies based on sequence homology, one that co-transports sugars and the second that transports molecules such as ascorbate, choline, iodide, lipoate, monocaroboxylates, and pantothenate. The protein encoded by this gene has the highest affinity for mannose and has been reported to be most highly expressed in the kidney. This protein may function as a kidney-specific, sodium-dependent mannose and fructose co-transporter. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]., [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": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 9606, "biomarker_type": "", "glycan_count": 5, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "A8MUC9;B4DPI0;B7WPR4;Q6P5X0;Q8IXM4;Q96LQ1", "ec_number_list": [], "go_molecular_function": "GO:0015370 solute:sodium symporter activity;GO:0140929 mannose:sodium symporter activity;GO:0140930 fructose:sodium symporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane", "go_biological_process": "GO:0008645 hexose transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "A0PJK1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A3KN83-1", "uniprot_id": [ { "id": "SBNO1_HUMAN", "url": "https://www.uniprot.org/uniprot/A3KN83", "type": "external" } ], "mass": 154312.0, "length": 1393, "protein_name": "Protein strawberry notch homolog 1", "gene_name": "SBNO1", "organism": "Human", "refseq_name": "protein strawberry notch homolog 1 isoform 1", "refseq_ac": [ { "id": "NP_001161328", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001161328", "type": "external" } ], "gene_names_uniprotkb": "SBNO1; MOP3", "gene_names_refseq": "MOP3; SBNO1; Sno", "protein_names_uniprotkb": "Protein strawberry notch homolog 1; MOP-3; Monocyte protein 3", "protein_names_refseq": "monocyte protein 3; protein strawberry notch homolog 1 isoform 1; protein strawberry notch homolog 1", "tax_id": 9606, "disease": "schizophrenia (Disease Ontology:DOID:5419)", "pathway": " (hsa:55206)", "pathway_count": 1, "publication_count": 129, "publication_id_list": "15944288;16533400;16959974;17081983;18669648;19608861;19690332;20068230;20068231;21406692;22299025;22424782;22449796;23186163;23481700;24715725;25418920;25469497;25576301;25645385;25880248;25892735;26154972;26375851;26811146;26929215;26992070;27600516;27655845;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28657654;28832583;28834231;28860189;28904123;29237092;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30059200;30315122;30379171;30410026;30429286;30484775;30524438;30620550;30779550;30833945;31092671;31154438;31217245;31492838;31530632;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34509645;34561969;34725712;34932366;35051231;35132862;35138101;35254053;35289036;35318648;35513511;35561310;35580925;35705054;36010968;36215666;36241641;36284347;36695974;37217939;37340703;37541260;38665916;38838015;39302247;39531497;39534244;40136647", "class_list": "", "function": "Enhanced expression of Cdx2 by stimulation with bile acids may induce intestinal differentiation of esophageal columnar cells by interaction with the Notch signaling pathway., [RefSeq, PubMed]; Plays a crucial role in the regulation of neural stem cells (NSCs) proliferation. Enhances the phosphorylation of GSK3B through the PI3K-Akt signaling pathway, thereby upregulating the Wnt/beta-catenin signaling pathway and promoting the proliferation of NSCs. Improves ischemic stroke recovery while inhibiting neuroinflammation through small extracellular vesicles (sEVs)-mediated mechanism. Enhances the secretion of sEVs from NSCs, which in turn inhibit both the MAPK and NF-kappaB pathways in microglia. This inhibition suppresses the pro-inflammatory M1 polarization of microglia, promoting a shift towards the M2 anti-inflammatory phenotype, which is beneficial for reducing neuroinflammation., [UniProtKB, UniProtKB]; Study of Strawberry Notch homolog 1 and 2 expression in human glioblastoma., [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": 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": 12, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 67, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 1, "glyco_site_count": 18, "binding_glycan_count": 0, "secondary_ac_list": "Q05C06;Q3ZTS3;Q9H3T8;Q9NVB2", "ec_number_list": [], "go_molecular_function": "GO:0031490 chromatin DNA binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006954 inflammatory response;GO:0006355 regulation of DNA-templated transcription;GO:0043124 negative regulation of canonical NF-kappaB signal transduction;GO:0016055 Wnt signaling pathway;GO:0090263 positive regulation of canonical Wnt signaling pathway", "synthesized_glycan_count": 0, "hit_score": 14.7, "record_id": "A3KN83-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14828-1", "uniprot_id": [ { "id": "SCAM3_HUMAN", "url": "https://www.uniprot.org/uniprot/O14828", "type": "external" } ], "mass": 38287.0, "length": 347, "protein_name": "Secretory carrier-associated membrane protein 3", "gene_name": "SCAMP3", "organism": "Human", "refseq_name": "secretory carrier-associated membrane protein 3 isoform 1", "refseq_ac": [ { "id": "NP_005689", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005689", "type": "external" } ], "gene_names_uniprotkb": "SCAMP3; C1orf3; PROPIN1", "gene_names_refseq": "C1orf3; SCAMP3", "protein_names_uniprotkb": "Secretory carrier-associated membrane protein 3; Secretory carrier membrane protein 3", "protein_names_refseq": "propin 1; secretory carrier-associated membrane protein 3 isoform 1; secretory carrier-associated membrane protein 3", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:10067)", "pathway_count": 1, "publication_count": 76, "publication_id_list": "11237011;15144186;15592455;17322306;17924679;18578522;18669648;18707149;18767875;19007248;19158374;19415658;19651622;19690332;19691289;19901323;20068231;20166139;21406692;23186163;23418353;24275569;25114211;25502872;27507217;27519163;27846572;28446606;28467828;28580691;28834231;28871256;28904123;29242379;29314611;29393594;29557506;30410026;30573663;31020640;31092671;31217245;31222486;31554889;31611695;31844290;31848261;31998317;32157095;32161166;32350084;32983136;33043033;33214551;33298915;33592498;33691108;33912179;33936100;34078123;34357683;34378951;34725712;34932366;35051231;35154160;35561310;35580925;36215666;36241641;38665916;39302247;40914422;9331372;9378760;9658162", "class_list": "", "function": "Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface., [UniProtKB]; MicroRNA-27a/b-3p and PPARG regulate SCAMP3 through a feed-forward loop during adipogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; SCAMP 3 is a novel regulator of endosomal morphology and composition., [RefSeq, PubMed]; Secretory Carrier Membrane Protein 3 Interacts with 3A Viral Protein of Enterovirus and Participates in Viral Replication., [RefSeq, PubMed]; The SCAMPs may largely function at the same sites during vesicular transport rather than in separate post-Golgi recycling pathways., [RefSeq, PubMed]; The novel association of several endocytosis-associated proteins has been demonstrated, in particular, of CLTC and SCAMP3 with hepatocellular carcinoma progression., [RefSeq, PubMed]; This gene encodes an integral membrane protein that belongs to the secretory carrier membrane protein family. The encoded protein functions as a carrier to the cell surface in post-golgi recycling pathways. This protein is also involved in protein trafficking in endosomal pathways. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 13, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A9Z1W6;B1AVS6;O15128;Q96FR8;Q9BPY0", "ec_number_list": [], "go_molecular_function": "GO:0031625 ubiquitin protein ligase binding", "go_cellular_component": "GO:0032588 trans-Golgi network membrane;GO:0070062 extracellular exosome;GO:0055038 recycling endosome membrane;GO:0016020 membrane", "go_biological_process": "GO:0015031 protein transport;GO:0006892 post-Golgi vesicle-mediated transport;GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "O14828-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60613-1", "uniprot_id": [ { "id": "SEP15_HUMAN", "url": "https://www.uniprot.org/uniprot/O60613", "type": "external" } ], "mass": 18092.0, "length": 165, "protein_name": "Selenoprotein F", "gene_name": "SELENOF", "organism": "Human", "refseq_name": "selenoprotein F isoform 1 precursor", "refseq_ac": [ { "id": "NP_004252", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004252", "type": "external" } ], "gene_names_uniprotkb": "SELENOF; SEP15", "gene_names_refseq": "SELENOF; SEP15", "protein_names_uniprotkb": "Selenoprotein F; 15 kDa selenoprotein", "protein_names_refseq": "15 kDa selenoprotein; selenoprotein F isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:9403)", "pathway_count": 1, "publication_count": 89, "publication_id_list": "10945981;11237011;11278576;11898406;12600282;20112406;23481700;24415556;25418920;25548167;25645385;26728094;26929215;27543614;27645994;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28855257;28860189;29242379;29393594;29410696;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30484775;30524438;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32295785;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33592498;33691108;33717175;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34405274;34509645;35051231;35082382;35112407;35154160;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36334799;36979420;37938771;38665916;9535873", "class_list": "", "function": "Distinct Roles of SELENOF in Different Human Cancers. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Genetic and functional analysis of mammalian Sep15 selenoprotein., [RefSeq, PubMed]; May be involved in redox reactions associated with the formation of disulfide bonds (By similarity). May contribute to the quality control of protein folding in the endoplasmic reticulum (PubMed:24415556). May regulate protein folding by enhancing the catalytic activity of UGGT1/UGCGL1 and UGGT2/UGCGL2 (PubMed:24415556)., [UniProtKB, PubMed, UniProtKB]; May be involved in redox reactions associated with the formation of disulfide bonds. May contribute to the quality control of protein folding in the endoplasmic reticulum. May regulate protein folding by enhancing the catalytic activity of UGGT1/UGCGL1 and UGGT2/UGCGL2., [UniProtKB, UniProtKB, UniProtKB]; One-Pot Chemical Protein Synthesis Utilizing Fmoc-Masked Selenazolidine to Address the Redox Functionality of Human Selenoprotein F., [RefSeq, PubMed]; Role of SELENBP1 and SELENOF in prostate cancer bioenergetics. Review article, [RefSeq, PubMed]; SELENOF is a new tumor suppressor in breast cancer., [RefSeq, PubMed]; Studies in mouse show that Sep15 may have redox function., [RefSeq, PubMed]; The protein encoded by this gene belongs to the SEP15/selenoprotein M family. The exact function of this protein is not known; however, it has been found to associate with UDP-glucose:glycoprotein glucosyltransferase (UGTR), an endoplasmic reticulum(ER)-resident protein, which is involved in the quality control of protein folding. The association with UGTR retains this protein in the ER, where it may play a role in protein folding. It has also been suggested to have a role in cancer etiology. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 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": "A0A0B4J1S4;Q4GZG7;Q8WU00;Q9BS64;Q9GZW0;Q9NR01", "ec_number_list": [], "go_molecular_function": "GO:0016491 oxidoreductase activity;GO:0008379 thioredoxin peroxidase activity;GO:0008430 selenium binding", "go_cellular_component": "GO:0005788 endoplasmic reticulum lumen", "go_biological_process": "GO:0051084 'de novo' post-translational protein folding;GO:0035092 sperm DNA condensation", "synthesized_glycan_count": 0, "hit_score": 9.2, "record_id": "O60613-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09683-1", "uniprot_id": [ { "id": "SECR_HUMAN", "url": "https://www.uniprot.org/uniprot/P09683", "type": "external" } ], "mass": 13016.0, "length": 121, "protein_name": "Secretin", "gene_name": "SCT", "organism": "Human", "refseq_name": "secretin preproprotein", "refseq_ac": [ { "id": "NP_068739", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_068739", "type": "external" } ], "gene_names_uniprotkb": "SCT", "gene_names_refseq": "SCT", "protein_names_uniprotkb": "Secretin", "protein_names_refseq": "prepro-secretin; secretin preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:6343); (R-HSA-418555); (R-HSA-420092)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10322410;10698200;11007482;11060443;11946536;12036966;12058044;12106601;12160732;12180353;12860470;1333056;13549488;14671004;1517224;15464082;15471943;15706223;15765929;15769620;15951850;16313925;16687412;16888198;16923326;17168849;1739432;18044684;18577758;19105585;19876791;19929708;20381629;21036126;2163110;2417744;24687066;2491850;25332973;2553411;2553705;26417854;2826231;2871555;29443750;29602314;30449620;30833991;3127824;31279028;31399091;31983287;32226383;32497535;32540603;32618402;32715661;32811827;33008599;33049737;33928675;36764966;37335970;3899557;6085243;6192430;6745415;7589426;7680413;7700244;7811244;7902709;8144028;8340388;8390245;8514797;8672451;9263355;9417641;9651336;9990065", "class_list": "", "function": "Expression of Secretin and its Receptor Along the Intestinal Tract in Type 2 Diabetes Patients and Healthy Controls., [RefSeq, PubMed]; Fine structure in 11p15.5 and sequence variation in patients with autism, [RefSeq, PubMed]; First pathway is by changing the expression levels of nuclear factor-I C(NFI-C) and secretin proteins while the second pathway is by modifying the phosphorylation status of both NFI-C and secretin proteins via cyclin-dependent kinase 1, [RefSeq, PubMed]; Hormone involved in different processes, such as regulation of the pH of the duodenal content, food intake and water homeostasis (PubMed:25332973). Exerts its biological effects by binding to secretin receptor (SCTR), a G protein-coupled receptor expressed in the basolateral domain of several cells (PubMed:25332973, PubMed:33008599, PubMed:32811827). Acts as a key gastrointestinal hormone by regulating the pH of the duodenal content (By similarity). Secreted by S cells of the duodenum in the crypts of Lieberkuehn and regulates the pH of the duodenum by (1) inhibiting the secretion of gastric acid from the parietal cells of the stomach and (2) stimulating the production of bicarbonate (NaHCO(3)) from the ductal cells of the pancreas (By similarity). Production of bicarbonate is essential to neutralize the pH and ensure no damage is done to the small intestine by the gastric acid (By similarity). In addition to regulating the pH of the duodenal content, plays a central role in diet induced thermogenesis: acts as a non-sympathetic brown fat (BAT) activator mediating prandial thermogenesis, which consequentially induces satiation (Probable). Mechanistically, secretin released by the gut after a meal binds to secretin receptor (SCTR) in brown adipocytes, activating brown fat thermogenesis by stimulating lipolysis, which is sensed in the brain and promotes satiation (By similarity). Also able to stimulate lipolysis in white adipocytes (By similarity). Also plays an important role in cellular osmoregulation: released into the systemic circulation in response to hyperosmolality and acts at different levels in the hypothalamus, pituitary and kidney to regulate water homeostasis (By similarity). Also plays a role in the central nervous system, possibly by acting as a neuropeptide hormone: required for hippocampal synaptic function and neural progenitor cells maintenance (By similarity)., [UniProtKB, UniProtKB, PubMed, UniProtKB, PubMed, PubMed, PubMed]; Inhibition of Secretin/Secretin Receptor Axis Ameliorates NAFLD Phenotypes., [RefSeq, PubMed]; Secretin mRNAs are found in Purkinje cells and secretin-immunoreactivities are localized in both the soma and dendrites of Purkinje cells of human cerebellum., [RefSeq, PubMed]; Secretin modulates appetite via brown adipose tissue-brain axis., [RefSeq, PubMed]; This gene encodes a member of the glucagon family of peptides. The encoded preproprotein is secreted by endocrine S cells in the proximal small intestinal mucosa as a prohormone, then proteolytically processed to generate the mature peptide hormone. The release of this active peptide hormone is stimulated by either fatty acids or acidic pH in the duodenum. This hormone stimulates the secretion of bile and bicarbonate in the duodenum, pancreatic and biliary ducts. [provided by RefSeq, Feb 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 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:0005102 signaling receptor binding;GO:0001664 G protein-coupled receptor binding;GO:0005179 hormone activity;GO:0046659 digestive hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space", "go_biological_process": "GO:0090274 positive regulation of somatostatin secretion;GO:1903640 negative regulation of gastrin-induced gastric acid secretion;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0021766 hippocampus development;GO:0031667 response to nutrient levels", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P09683-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z398-1", "uniprot_id": [ { "id": "ZN550_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z398", "type": "external" } ], "mass": 48381.0, "length": 422, "protein_name": "Zinc finger protein 550", "gene_name": "ZNF550", "organism": "Human", "refseq_name": "zinc finger protein 550 isoform a", "refseq_ac": [ { "id": "NP_001264019", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264019", "type": "external" } ], "gene_names_uniprotkb": "ZNF550", "gene_names_refseq": "ZNF550", "protein_names_uniprotkb": "Zinc finger protein 550", "protein_names_refseq": "zinc finger protein 550 isoform a", "tax_id": 9606, "disease": "", "pathway": " (hsa:162972); (R-HSA-212436)", "pathway_count": 2, "publication_count": 23, "publication_id_list": "10235266;10330177;11237011;11395415;14519192;15175151;15896744;16606702;16719718;2163759;26992070;28218747;29437277;30315122;31844290;32157095;32897882;33968037;35051231;8183939;8769649;9637681;9653119", "class_list": "", "function": "May be involved in transcriptional regulation., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KVF6;O43337;Q7Z6D7;Q8NE45", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding;GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific;GO:0003677 DNA binding;GO:0000976 transcription cis-regulatory region binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0045944 positive 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": 2.4, "record_id": "Q7Z398-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P62269-1", "uniprot_id": [ { "id": "RS18_HUMAN", "url": "https://www.uniprot.org/uniprot/P62269", "type": "external" } ], "mass": 17719.0, "length": 152, "protein_name": "Small ribosomal subunit protein uS13", "gene_name": "RPS18", "organism": "Human", "refseq_name": "small ribosomal subunit protein uS13", "refseq_ac": [ { "id": "NP_072045", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_072045", "type": "external" } ], "gene_names_uniprotkb": "RPS18; D6S218E", "gene_names_refseq": "D6S218E; HKE3; KE-3; KE3; RPS18; S18; uS13", "protein_names_uniprotkb": "Small ribosomal subunit protein uS13; 40S ribosomal protein S18; Ke-3; Ke3", "protein_names_refseq": "40S ribosomal protein S18; rhabdomyosarcoma antigen MU-RMS-40.21; small ribosomal subunit protein uS13", "tax_id": 9606, "disease": "", "pathway": " (hsa:6222); (R-HSA-156827); (R-HSA-156902); (R-HSA-1799339); (R-HSA-192823); (R-HSA-2408557); (R-HSA-6791226); (R-HSA-72649); (R-HSA-72689); (R-HSA-72695); (R-HSA-72702); (R-HSA-72706); (R-HSA-72764); (R-HSA-9010553); (R-HSA-9633012); (R-HSA-9735869); (R-HSA-9754678); (R-HSA-975956); (R-HSA-975957); (R-HSA-9954714); (R-HSA-9954716)", "pathway_count": 21, "publication_count": 291, "publication_id_list": "10358005;10364207;10659855;1095581;10970870;10982836;11018020;11018027;1104615;11237011;11265756;11331269;11532962;11544179;11546874;11551508;11677247;11691921;11726970;11922599;11964406;12068309;12150911;12417715;12493757;12554878;12588972;12718880;12832468;12853463;1400365;14527413;14567916;14630918;14636577;14654843;14742663;14973490;14978097;15034551;15317934;15385533;15534230;15546618;15721257;15775988;15781252;15821744;16026328;16037817;16043514;16186820;16209946;16284618;16452507;16469117;16601204;16622410;16630668;16738141;16912115;16989641;17053788;17142313;17189298;17267404;17352659;17353269;17363904;17412707;17726049;17803942;17893241;18065403;18066079;18166647;18230761;18256688;18285520;18423202;18438418;18447580;18447585;18448518;18455985;18524595;18539146;1856230;18566446;1861871;18657639;18974281;19060897;19106111;19117535;19150429;19332556;19359157;19417104;19478851;19503078;19556969;19564402;19608861;19608919;19706539;19801658;19838190;19859661;19909264;20023408;20038530;20056613;2006156;20305658;20361218;20444697;20479275;20531386;20691628;20798176;20805244;20817927;20819938;20930030;21029861;21036871;21063389;21097556;21145460;21419344;22072790;22174690;22190735;22195017;22223895;22645359;22855488;22916032;23035226;23085078;23217742;23234702;23269699;23439679;23482395;23636399;23746841;2388630;24424021;24524803;24550520;24714562;24715725;25132172;25242263;25418920;25432065;25469497;25525153;25576301;25645385;25969445;26154972;26237581;26758079;26768311;26992070;27526673;27600516;27846572;27862975;27920218;28063628;28065601;28132843;28228285;28649982;28685749;28832583;28834231;29242379;29331515;29393594;29413899;29493099;29508533;29557506;29632046;29786170;29789417;30192525;30293783;30315122;30410026;30429286;30444036;30484775;30524438;30779550;30804176;31217245;31222486;31530632;31844290;31848261;31998317;32099016;32157095;32161166;32265295;32350084;32387766;32488085;32502341;32579943;32680882;32870666;32897882;32908316;32938616;32983136;32995776;32995777;33043033;33080218;33091337;33141586;33188728;33214551;33268501;33298915;33392160;33479166;33537174;33592498;33633747;33691108;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34315815;34373319;34509645;34624207;34932366;35051231;35138101;35154160;35251023;35561310;35580925;36010968;36215666;36241641;36284347;36302773;36610391;37217939;37938771;38665916;39395807;40914422;429297;592398;592399;641056;6568109;6853548;6901506;7000367;7990965;8336711;8407925;8441687;8706699;8890909;8943342;9045610;9211906;9431993;9482744;9631292;9637248;9712840;9732867;9857202", "class_list": "", "function": "Component of the small ribosomal subunit. The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell., [UniProtKB, PubMed]; Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S13P family of ribosomal proteins. It is located in the cytoplasm. The gene product of the E. coli ortholog (ribosomal protein S13) is involved in the binding of fMet-tRNA, and thus, in the initiation of translation. This gene is an ortholog of mouse Ke3. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "P25232;Q5SUJ3;Q6IPF8", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0019843 rRNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005925 focal adhesion", "go_biological_process": "GO:0006412 translation;GO:0002181 cytoplasmic translation", "synthesized_glycan_count": 0, "hit_score": 29.4, "record_id": "P62269-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z333-1", "uniprot_id": [ { "id": "SETX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z333", "type": "external" } ], "mass": 302880.0, "length": 2677, "protein_name": "Helicase senataxin", "gene_name": "SETX", "organism": "Human", "refseq_name": "helicase senataxin isoform 1", "refseq_ac": [ { "id": "NP_055861", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055861", "type": "external" } ], "gene_names_uniprotkb": "SETX; ALS4; KIAA0625; SCAR1", "gene_names_refseq": "ALS4; AOA2; SCAN2; SCAR1; SETX; STEX; Sen1; bA479K20.2", "protein_names_uniprotkb": "Helicase senataxin; 5.6.2.3; Amyotrophic lateral sclerosis 4 protein; RNA:DNA and DNA:DNA 5'-3' helicase SETX; SEN1 homolog; Senataxin", "protein_names_refseq": "SEN1 homolog; amyotrophic lateral sclerosis 4 protein; helicase senataxin isoform 1; probable helicase senataxin", "tax_id": 9606, "disease": "spinocerebellar ataxia with axonal neuropathy 2 (Disease Ontology:DOID:0050755); amyotrophic lateral sclerosis type 4 (Disease Ontology:DOID:0060196)", "pathway": " (hsa:23064)", "pathway_count": 1, "publication_count": 131, "publication_id_list": "10.1101/2023.09.13.557529;11237011;14770181;15106121;16644229;16717225;16964243;17081983;17096168;17562789;18212344;18452278;18669648;18691976;18767875;19007248;19415658;19515850;19651622;19690332;19691289;20068231;21112256;21190393;21406692;21576111;21700224;22424782;22544926;22645359;23149945;23186163;23481700;23566282;23786967;23941260;24105744;24244371;24275569;24397554;24714562;24715725;25114211;25418920;25576301;25645385;25755297;26154972;26375851;26700805;26728094;26811146;26992070;27397612;27600516;27846572;27862975;27920218;28063628;28121444;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30410026;30429286;30484775;30524438;31154438;31217245;31844290;31848261;31937595;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33537174;33592498;33633747;33691108;33717175;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34211107;34509645;34561969;35051231;35318648;35494241;35580925;36010968;36215666;36241641;36284347;36581221;36864660;37832548;37938771;38109176;38717338;39120648", "class_list": "", "function": "ATP-dependent 5'-3' helicase that preferentially unwinds RNA:DNA substrates over DNA:DNA substrates, playing a crucial role in resolving 5'-overhang RNA:DNA hybrids (R-loops) and promoting transcription termination (PubMed:36864660). Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription (PubMed:19515850, PubMed:21700224). Contributes to the mRNA splicing efficiency and splice site selection (PubMed:19515850). Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination (PubMed:19515850, PubMed:21700224, PubMed:26700805). Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress (PubMed:17562789). In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage (PubMed:24105744). Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription (PubMed:21112256). Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis (PubMed:21576111)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes., [RefSeq, PubMed]; R-loops and impaired autophagy trigger cGAS-dependent inflammation via micronuclei formation in Senataxin-deficient cells. Publication Status: Online-Only, [RefSeq, PubMed]; Sen1 architecture: RNA-DNA hybrid resolution, autoregulation, and insights into SETX inactivation in AOA2., [RefSeq, PubMed]; Senataxin deficiency disrupts proteostasis through nucleolar ncRNA-driven protein aggregation., [RefSeq, PubMed]; Ten of the fifteen mutations cause premature termination of a large DEAxQ-box helicase, the human ortholog of yeast Sen1p, involved in RNA maturation and termination., [RefSeq, PubMed]; This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 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": 23, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 78, "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": "A2A396;B2RPB2;B5ME16;C9JQ10;O75120;Q3KQX4;Q5JUJ1;Q68DW5;Q6AZD7;Q7Z3J6;Q8WX33;Q9H9D1;Q9NVP9", "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:0033677 DNA/RNA helicase activity;GO:0003677 DNA binding;GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0030424 axon", "go_biological_process": "GO:0033120 positive regulation of RNA splicing;GO:0006310 DNA recombination;GO:0006396 RNA processing;GO:0007283 spermatogenesis;GO:0007399 nervous system development", "synthesized_glycan_count": 0, "hit_score": 13.7, "record_id": "Q7Z333-1", "record_type": "protein", "filter_code": "0000000.1100111.001000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0P0-1", "uniprot_id": [ { "id": "RN181_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0P0", "type": "external" } ], "mass": 17909.0, "length": 153, "protein_name": "E3 ubiquitin-protein ligase RNF181", "gene_name": "RNF181", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF181", "refseq_ac": [ { "id": "NP_057578", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057578", "type": "external" } ], "gene_names_uniprotkb": "RNF181; HSPC238", "gene_names_refseq": "HSPC238; RNF181", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF181; 2.3.2.27; RING finger protein 181", "protein_names_refseq": "E3 ubiquitin-protein ligase RNF181; RING-type E3 ubiquitin transferase RNF181", "tax_id": 9606, "disease": "", "pathway": " (hsa:51255); (R-HSA-8866654)", "pathway_count": 2, "publication_count": 91, "publication_id_list": "10562279;11237011;11740563;15215855;15215856;16307923;16868077;17108083;17130289;17525332;17726030;18316726;18331836;18359941;18669648;18719106;18991276;19208625;19410543;19426595;19723507;20068231;21203937;21329877;21391225;21396873;21554508;22021426;23783831;24662292;24715725;24807418;24811749;24979766;25030448;25170678;25418920;25505266;25576301;25645385;25936802;26086376;26154972;26210183;26216882;26344566;26350214;26711259;26754738;26811146;26992070;27569044;27597759;27798111;27920218;28063628;28832583;28904123;29242379;29393594;29557506;29632046;29786170;29789417;30429286;30714150;30833945;31092671;31154438;31844290;31848261;32157095;32161166;32265295;32488085;32502341;32897882;32938616;32973333;32983136;33298915;33691108;33936100;33968037;34052676;34561969;35051231;35580925;39894887;8625414;8991089", "class_list": "", "function": "Data show LOC51255 (RNF181) protein located in the cytoplasm of HePG2 cell line., [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 (PubMed:18331836). Catalyzes monoubiquitination of 26S proteasome subunit PSMC2/RPT1 (PubMed:24811749)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; RN181 functions as a tumour suppressor in gastric cancer by regulation of the ERK/MAPK-cyclin D1/CDK4 pathway, controlling cell proliferation and tumor volume., [RefSeq, PubMed]; RN181 regulates the biological behaviors of oral squamous cell carcinoma cells via mediating ERK/MAPK signaling pathway., [RefSeq, PubMed]; RN181 suppresses the tumorigenesis of hepatocellular carcinoma through the inhibition of ERK/MAPK signaling in the liver., [RefSeq, PubMed]; RNF181 binds the integrin alpha-IIb (ITGA2B; MIM 607759)/beta-3 (ITGB3; MIM 173470) complex and has E3 ubiquitin ligase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM, Dec 2008]., [RefSeq]; RNF181 limits the proliferation of human diffuse large B cell lymphoma cells that depend upon aberrant CARD11 signaling to NF-kappaB for growth and survival in culture. Erratum:[Mol Cell Biol. 2016 Mar 31;36(8):1322. doi: 10.1128/MCB.00106-16. PMID: 27034408] Publication Status: Online-Only, [RefSeq, PubMed]; The presence of RN181 in human platelets was established; RN181 has ubiquitin E3 ligase activity., [RefSeq, PubMed]; The ubiquitin ligase RNF181 stabilizes ERalpha and modulates breast cancer progression., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": "Q53H81", "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": "2.3.2.27", "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:0004842 ubiquitin-protein transferase activity", "go_cellular_component": "GO:0005737 cytoplasm", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0051865 protein autoubiquitination", "synthesized_glycan_count": 0, "hit_score": 9.4, "record_id": "Q9P0P0-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60930-1", "uniprot_id": [ { "id": "RNH1_HUMAN", "url": "https://www.uniprot.org/uniprot/O60930", "type": "external" } ], "mass": 32064.0, "length": 286, "protein_name": "Ribonuclease H1", "gene_name": "RNASEH1", "organism": "Human", "refseq_name": "ribonuclease H1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_002927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002927", "type": "external" } ], "gene_names_uniprotkb": "RNASEH1; RNH1", "gene_names_refseq": "H1RNA; PEOB2; RNASEH1; RNH1", "protein_names_uniprotkb": "Ribonuclease H1; 3.1.26.4; RNase H1; Ribonuclease H type II", "protein_names_refseq": "ribonuclease H type II; ribonuclease H1 isoform 1 precursor", "tax_id": 9606, "disease": "autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 (Disease Ontology:DOID:0111515)", "pathway": " (hsa:246243); (R-HSA-9913635)", "pathway_count": 2, "publication_count": 46, "publication_id_list": "10497183;10608893;10677218;11237011;15167897;16303743;18187503;18685103;19651622;19837034;20445207;21700224;21953457;22383523;25635099;26094573;26253742;27220468;27226550;29242379;29290614;29769354;30102370;30247721;30256971;30605451;30833945;30949702;31844290;33847964;34171305;34348152;34932366;35819194;35947649;36241641;36528058;36744436;37013609;37022517;37378420;37592734;37938771;9512096;9799596;9894807", "class_list": "", "function": "A pan-cancer analysis of RNASEH1, a potential regulator of the tumor microenvironment., [RefSeq, PubMed]; BRCA2 deficiency reveals that oxidative stress impairs RNaseH1 function to cripple mitochondrial DNA maintenance., [RefSeq, PubMed]; Endonuclease that specifically degrades the RNA of RNA-DNA hybrids (PubMed:10497183). Plays a role in RNA polymerase II (RNAp II) transcription termination by degrading R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site and behind the elongating RNAp II (PubMed:21700224)., [UniProtKB, PubMed, PubMed]; RNase H1 facilitates recombinase recruitment by degrading DNA-RNA hybrids during meiosis., [RefSeq, PubMed]; This gene encodes an endonuclease that specifically degrades the RNA of RNA-DNA hybrids and plays a key role in DNA replication and repair. Alternate in-frame start codon initiation results in the production of alternate isoforms that are directed to the mitochondria or to the nucleus. The production of the mitochondrial isoform is modulated by an upstream open reading frame (uORF). Mutations in this gene have been found in individuals with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2. Alternative splicing results in additional coding and non-coding transcript variants. Pseudogenes of this gene have been defined on chromosomes 2 and 17. [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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B3KQU4;O60523;O60857;Q57Z93;Q5U0C1;Q6FHD4", "ec_number_list": [ { "id": "3.1.26.4", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.4", "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": "4.2.99.-", "url": "https://www.rhea-db.org/rhea/?query=ec:4.2.99.-", "type": "external" }, { "id": "5.6.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.3", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003723 RNA binding;GO:0003676 nucleic acid binding;GO:0004523 RNA-DNA hybrid ribonuclease activity;GO:0004540 RNA nuclease activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0043137 DNA replication, removal of RNA primer;GO:0006401 RNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 4.7, "record_id": "O60930-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BY42-1", "uniprot_id": [ { "id": "RTF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BY42", "type": "external" } ], "mass": 33887.0, "length": 306, "protein_name": "Replication termination factor 2", "gene_name": "RTF2", "organism": "Human", "refseq_name": "replication termination factor 2 isoform c", "refseq_ac": [ { "id": "NP_001269965", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269965", "type": "external" } ], "gene_names_uniprotkb": "RTF2; AD-007; C20orf43; CDA05; HSPC164; HSPC169; RTFDC1", "gene_names_refseq": "C20orf43; CDAO5; HSPC164; RTF2; RTFDC1; SHUJUN-3", "protein_names_uniprotkb": "Replication termination factor 2; RTF2; Replication termination factor 2 domain-containing protein 1", "protein_names_refseq": "UPF0549 protein C20orf43; protein RTF2 homolog; replication termination factor 2 domain containing 1; replication termination factor 2 domain-containing protein 1; replication termination factor 2 isoform c", "tax_id": 9606, "disease": "", "pathway": " (hsa:51507)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "10931946;11237011;18212344;20068231;22645359;23186163;24714562;24715725;25418920;25576301;25645385;25880248;25892735;26154972;26728094;26992070;28228285;28510447;28649982;28832583;28834231;28904123;29242379;29290612;29493099;29508533;29557506;29632711;29786170;30315122;30379171;30410026;30429286;30779550;30833945;31154438;31373491;31530632;31844290;31848261;32157095;32357974;32488085;32502341;32878895;32897882;32938616;32983136;33633747;33936100;33968037;34019948;34087483;34171305;35051231;35318648;35580925;36010968;36241641;37217939;40596516;40914422", "class_list": "glycogene;glycosyltransferase", "function": "Loss of the Nuclear Protein RTF2 Enhances Influenza Virus Replication. Publication Status: Online-Only, [RefSeq, PubMed]; Replication termination factor which is a component of the elongating replisome (Probable). Required for ATR pathway signaling upon DNA damage and has a positive activity during DNA replication. Might function to facilitate fork pausing at replication fork barriers like the rDNA. May be globally required to stimulate ATR signaling after the fork stalls or encounters a lesion (Probable). Interacts with nascent DNA (PubMed:29290612)., [UniProtKB, PubMed]; Replication termination factor which is a component of the elongating replisome. Required for ATR pathway signaling upon DNA damage and has a positive activity during DNA replication. Might function to facilitate fork pausing at replication fork barriers like the rDNA. May be globally required to stimulate ATR signaling after the fork stalls or encounters a lesion. Interacts with nascent DNA., [UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The results establish that RTF2 removal is a key determinant for the ability of cells to manage replication stress and maintain genome 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": 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": 324, "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": "E1P5Z9;Q9BYL7;Q9HCV9;Q9NX29;Q9NZZ8;Q9P002;Q9UHW3", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005657 replication fork", "go_biological_process": "GO:0097752 regulation of DNA stability;GO:0072711 cellular response to hydroxyurea", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9BY42-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15127-1", "uniprot_id": [ { "id": "SCAM2_HUMAN", "url": "https://www.uniprot.org/uniprot/O15127", "type": "external" } ], "mass": 36649.0, "length": 329, "protein_name": "Secretory carrier-associated membrane protein 2", "gene_name": "SCAMP2", "organism": "Human", "refseq_name": "secretory carrier-associated membrane protein 2 isoform 2", "refseq_ac": [ { "id": "NP_005688", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005688", "type": "external" } ], "gene_names_uniprotkb": "SCAMP2", "gene_names_refseq": "SCAMP2", "protein_names_uniprotkb": "Secretory carrier-associated membrane protein 2; Secretory carrier membrane protein 2", "protein_names_refseq": "secretory carrier-associated membrane protein 2 isoform 2; secretory carrier-associated membrane protein 2; testis secretory sperm-binding protein Li 219p", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:10066)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "11237011;15840657;16870614;18088087;18578522;18767875;19276089;19413330;19651622;19664995;20068231;20166139;21295544;21406692;22424782;24275569;24715725;25418920;25502872;25576301;26154972;26929215;26992070;28467828;28510447;28904123;29557506;30429286;30626607;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32350084;32357974;32387766;32488085;32938616;32983136;33141586;33298915;33392160;33592498;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34426610;34433824;34509645;34561969;34725712;34932366;35051231;35251023;35494241;35561310;35580925;36010968;36241641;40914422;9378760", "class_list": "", "function": "Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface., [UniProtKB]; SCAMP2/5 as diagnostic and prognostic markers for acute myeloid leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; This finding that SCAMP2 interacts with and regulates the subcellular distribution of both DAT and SERT suggests that interaction with SCAMP2 may constitute an important mechanism for coordinating cell surface expression of monoamine transporters., [RefSeq, PubMed]; This gene product belongs to the SCAMP family of proteins which are secretory carrier membrane proteins. They function as carriers to the cell surface in post-golgi recycling pathways. Different family members are highly related products of distinct genes, and are usually expressed together. These findings suggest that the SCAMPs may function at the same site during vesicular transport rather than in separate pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2RDF0;Q9BQE8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0016020 membrane;GO:0032588 trans-Golgi network membrane;GO:0070062 extracellular exosome;GO:0055038 recycling endosome membrane", "go_biological_process": "GO:0015031 protein transport;GO:0006892 post-Golgi vesicle-mediated transport;GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "O15127-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H7E2-1", "uniprot_id": [ { "id": "TDRD3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H7E2", "type": "external" } ], "mass": 73185.0, "length": 651, "protein_name": "Tudor domain-containing protein 3", "gene_name": "TDRD3", "organism": "Human", "refseq_name": "tudor domain-containing protein 3 isoform 1", "refseq_ac": [ { "id": "NP_001139542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139542", "type": "external" } ], "gene_names_uniprotkb": "TDRD3", "gene_names_refseq": "TDRD3", "protein_names_uniprotkb": "Tudor domain-containing protein 3", "protein_names_refseq": "tudor domain-containing protein 3 isoform 1; tudor domain-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:81550)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;15955813;18452278;18632687;18664458;18669648;19690332;20068231;20930030;21172665;23186163;23481700;25892735;26700805;26992070;27600516;28218747;28832583;28834231;28904123;29242379;29769354;30410026;30429286;31844290;32350084;32938616;33912179;33968037;34105348;35051231;35085371;35748872;36010968;37417852;37938771;39097054", "class_list": "", "function": "A dual-activity topoisomerase complex regulates mRNA translation and turnover., [RefSeq, PubMed]; Involvement of SYCP2L and TDRD3 gene variants on ovarian reserve and reproductive outcomes: a cross-sectional study. Publication Status: Online-Only, [RefSeq, PubMed]; PRMT1 and TDRD3 promote stress granule assembly by rebuilding the protein-RNA interaction network., [RefSeq, PubMed]; Propose a contribution of Tdrd3 to FMRP-mediated translational repression and suggest that the loss of the FMRP-Tdrd3 interaction caused by the I304N mutation might contribute to the pathogenesis of Fragile X syndrome, [RefSeq, PubMed]; Scaffolding protein that specifically recognizes and binds dimethylarginine-containing proteins (PubMed:15955813). Plays a role in the regulation of translation of target mRNAs by binding Arg/Gly-rich motifs (GAR) in dimethylarginine-containing proteins. In nucleus, acts as a coactivator: recognizes and binds asymmetric dimethylation on the core histone tails associated with transcriptional activation (H3R17me2a and H4R3me2a) and recruits proteins at these arginine-methylated loci (PubMed:21172665). In cytoplasm, acts as an antiviral factor that participates in the assembly of stress granules together with G3BP1 (PubMed:35085371)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The TDRD3 is an effector molecule that promotes transcription by binding methylarginine marks on histone tails., [RefSeq, PubMed]; Tudor domain of TDRD3 was required for its recruitment to cytoplasmic stress granules., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 2, "reported_glycation": 0, "reported_snv": 20, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "B2MWP9;Q53XA6;Q6P992", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0140008 histone H4 reader activity;GO:0140006 histone H3 reader activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005829 cytosol;GO:0140225 DNA topoisomerase III-beta-TDRD3 complex", "go_biological_process": "GO:0006265 DNA topological change;GO:0141194 siRNA-mediated heterochromatin formation", "synthesized_glycan_count": 0, "hit_score": 4.1, "record_id": "Q9H7E2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N6M9-1", "uniprot_id": [ { "id": "ZFN2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N6M9", "type": "external" } ], "mass": 16477.0, "length": 145, "protein_name": "AN1-type zinc finger protein 2A", "gene_name": "ZFAND2A", "organism": "Human", "refseq_name": "AN1-type zinc finger protein 2A isoform 1", "refseq_ac": [ { "id": "NP_872297", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872297", "type": "external" } ], "gene_names_uniprotkb": "ZFAND2A", "gene_names_refseq": "AIRAP; ZFAND2A", "protein_names_uniprotkb": "AN1-type zinc finger protein 2A", "protein_names_refseq": "AN1-type zinc finger protein 2A isoform 1; AN1-type zinc finger protein 2A; arsenite inducible RNA associated protein; zinc finger, AN1-type domain 2A", "tax_id": 9606, "disease": "", "pathway": " (hsa:90637)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;20185824;24619424;24898249;31540997", "class_list": "", "function": "Arsenite- inducible regulatory particle-associated protein (AIRAP) transcript to be translationally induced during arsenite stress conditions., [RefSeq, PubMed]; Data indicate that both heat shock factors HSF1 and HSF2 are recruited to the arsenite-inducible RNA-associated protein (AIRAP) promoter and regulate bortezomib-induced AIRAP expression., [RefSeq, PubMed]; The HSF1 binding HSE sequence in the AIRAP promoter critical for heat-induced transcription was identified., [RefSeq, PubMed]; The findings identify ZFAND2A/AIRAP as a novel stress-regulated survival factor implicated in the stabilization of the antiapoptotic protein cIAP2 and as a new potential therapeutic target 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A4D220", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005783 endoplasmic reticulum;GO:0000502 proteasome complex", "go_biological_process": "GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process;GO:0045047 protein targeting to ER", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q8N6M9-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N1H7-1", "uniprot_id": [ { "id": "S6OS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N1H7", "type": "external" } ], "mass": 68166.0, "length": 587, "protein_name": "Protein SIX6OS1", "gene_name": "C14orf39; SIX6OS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "C14orf39; SIX6OS1; C14orf39", "gene_names_refseq": "", "protein_names_uniprotkb": "Protein SIX6OS1; Six6 opposite strand transcript 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "primary ovarian insufficiency 18 (Disease Ontology:DOID:0112269); spermatogenic failure 52 (Disease Ontology:DOID:0112270)", "pathway": " (hsa:317761)", "pathway_count": 1, "publication_count": 7, "publication_id_list": "11237011;15703187;30379171;32488085;33508233;35051231;36010968", "class_list": "", "function": "Meiotic protein that localizes to the central element of the synaptonemal complex and is required for chromosome synapsis during meiotic recombination. Required for the appropriate processing of intermediate recombination nodules before crossover formation., [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": 12, "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": "Q08AQ4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000801 central element;GO:0005694 chromosome", "go_biological_process": "GO:0007283 spermatogenesis;GO:0007130 synaptonemal complex assembly;GO:0048477 oogenesis;GO:0007129 homologous chromosome pairing at meiosis;GO:0010705 meiotic DNA double-strand break processing involved in reciprocal meiotic recombination", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8N1H7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6P161-1", "uniprot_id": [ { "id": "RM54_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6P161", "type": "external" } ], "mass": 15819.0, "length": 138, "protein_name": "Large ribosomal subunit protein mL54", "gene_name": "MRPL54", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL54", "refseq_ac": [ { "id": "NP_758455", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_758455", "type": "external" } ], "gene_names_uniprotkb": "MRPL54", "gene_names_refseq": "L54mt; MRP-L54; MRPL54; mL54", "protein_names_uniprotkb": "Large ribosomal subunit protein mL54; 39S ribosomal protein L54, mitochondrial; L54mt; MRP-L54", "protein_names_refseq": "39S ribosomal protein L54, mitochondrial; large ribosomal subunit protein mL54; mitochondrial large ribosomal subunit protein mL54", "tax_id": 9606, "disease": "", "pathway": " (hsa:116541); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 53, "publication_id_list": "11237011;15358359;17803939;18429816;18782833;19524667;19716793;20186120;21872626;21907147;22172991;2250005;23481700;24714562;25233460;25838379;25880248;26375851;26728094;26992070;27029019;28218747;28228285;28832583;28834231;28892042;29493099;29508533;30315122;30429286;30833945;31217245;31844290;31848261;32350084;32502341;32897882;32938616;32987154;33243891;33691108;33717175;33878294;33912179;34087483;34171305;34357683;35051231;36010968;36284347;36302763;36596788;37141370", "class_list": "", "function": "Expression analysis of mammalian mitochondrial ribosomal protein genes, [RefSeq, PubMed]; Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:0003723 RNA binding;GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q6P161-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P18405-1", "uniprot_id": [ { "id": "S5A1_HUMAN", "url": "https://www.uniprot.org/uniprot/P18405", "type": "external" } ], "mass": 29459.0, "length": 259, "protein_name": "3-oxo-5-alpha-steroid 4-dehydrogenase 1", "gene_name": "SRD5A1", "organism": "Human", "refseq_name": "3-oxo-5-alpha-steroid 4-dehydrogenase 1 isoform 1", "refseq_ac": [ { "id": "NP_001038", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001038", "type": "external" } ], "gene_names_uniprotkb": "SRD5A1", "gene_names_refseq": "S5AR 1; SRD5A1", "protein_names_uniprotkb": "3-oxo-5-alpha-steroid 4-dehydrogenase 1; 1.3.1.22; S5AR 1; SR type 1; Steroid 5-alpha-reductase 1", "protein_names_refseq": "3-oxo-5-alpha-steroid 4-dehydrogenase 1 isoform 1; SR type 1; steroid 5-alpha-reductase type I; steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); prostate cancer (Disease Ontology:DOID:10283); prostatic hypertrophy (Disease Ontology:DOID:11132); hyperprolactinemia (Disease Ontology:DOID:12700); hypothyroidism (Disease Ontology:DOID:1459); breast carcinoma (Disease Ontology:DOID:3459); type 2 diabetes mellitus (Disease Ontology:DOID:9352); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6715); (R-HSA-193048)", "pathway_count": 2, "publication_count": 37, "publication_id_list": "10406467;10931946;11237011;11678334;1279965;1686016;1712709;17986282;18318566;1944596;19879888;19936164;21947678;2197970;2243100;2339109;23685396;2534550;25961201;29557506;31844290;3207614;32161166;32488085;33912179;33968037;34764940;34885733;34996447;36241641;3783591;38582131;8075637;8547185;9208814;9536209;9871428", "class_list": "", "function": "5alpha-reduction of epitestosterone is catalysed by human SRD5A1 and SRD5A2 and increases androgen receptor transactivation., [RefSeq, PubMed]; Catalyzes the irreversible stereospecific reduction of the delta 4,5 bond (double bond between carbons 4 and 5) of various 3-oxo steroids (3-keto steroids) producing their 5alpha dihydro-3-oxo forms (PubMed:2339109, PubMed:23685396). Converts testosterone into 5-alpha-dihydrotestosterone (DHT), a more potent androgen as it is the preferred ligand for androgen receptor (AR) transactivation, making this reaction a key step in male sexual differentiation during development (PubMed:2339109, PubMed:23685396). Besides testosterone, it can also act on other steroids, including progesterone, androstenedione, and corticoids, producing metabolites with diverse roles (PubMed:2339109). Hence, it plays a central role in sexual differentiation and androgen physiology (PubMed:2339109)., [UniProtKB, PubMed, PubMed]; Epigenetic regulation of 5alpha reductase-1 underlies adaptive plasticity of reproductive function and pubertal timing. Publication Status: Online-Only, [RefSeq, PubMed]; Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008]., [RefSeq]; Steroid Metabolism in Children and Adolescents With Obesity and Insulin Resistance: Altered SRD5A and 20alpha/20betaHSD Activity. Publication Status: Online-Only, [RefSeq, PubMed]; Treatment of Benign Prostatic Hyperplasia by Natural Drugs. Review article Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 8, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2R7Q1;Q9UHY4;Q9UP36;Q9UP37", "ec_number_list": [ { "id": "1.3.1.22", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.22", "type": "external" }, { "id": "1.3.1.94", "url": "https://www.rhea-db.org/rhea/?query=ec:1.3.1.94", "type": "external" } ], "go_molecular_function": "GO:0033218 amide binding;GO:0009055 electron transfer activity;GO:0070402 NADPH binding;GO:0003865 3-oxo-5-alpha-steroid 4-dehydrogenase activity;GO:0047751 3-oxo-5-alpha-steroid 4-dehydrogenase (NADP+) activity", "go_cellular_component": "GO:0043025 neuronal cell body;GO:0048471 perinuclear region of cytoplasm;GO:0005789 endoplasmic reticulum membrane;GO:0070852 cell body fiber", "go_biological_process": "GO:0007530 sex determination;GO:0006710 androgen catabolic process;GO:0030540 female genitalia development;GO:0001889 liver development;GO:0021510 spinal cord development", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "P18405-1", "record_type": "protein", "filter_code": "0000000.0000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P36954-1", "uniprot_id": [ { "id": "RPB9_HUMAN", "url": "https://www.uniprot.org/uniprot/P36954", "type": "external" } ], "mass": 14523.0, "length": 125, "protein_name": "DNA-directed RNA polymerase II subunit RPB9", "gene_name": "POLR2I", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase II subunit RPB9", "refseq_ac": [ { "id": "NP_006224", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006224", "type": "external" } ], "gene_names_uniprotkb": "POLR2I", "gene_names_refseq": "POLR2I; RPB9; hRPB14.5", "protein_names_uniprotkb": "DNA-directed RNA polymerase II subunit RPB9; DNA-directed RNA polymerase II subunit I; RNA polymerase II 14.5 kDa subunit; RNA polymerase II subunit B9; RPB14.5", "protein_names_refseq": "DNA-directed RNA polymerase II 14.5 kDa polypeptide; DNA-directed RNA polymerase II subunit I; DNA-directed RNA polymerase II subunit RPB9; RNA polymerase II 14.5 kDa subunit; RNA polymerase II subunit B9; RPB14.5; polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa; polymerase (RNA) II subunit I", "tax_id": 9606, "disease": "", "pathway": " (hsa:5438); (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": 592, "publication_id_list": 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"class_list": "", "function": "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. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. POLR2I/RPB9 is part of the upper jaw surrounding the central large cleft and thought to grab the incoming DNA template., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; This gene encodes a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. [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": 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": "B2R5J2;Q6NW05", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0003676 nucleic acid binding;GO:0003899 DNA-directed RNA polymerase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005665 RNA polymerase II, core complex;GO:0000428 DNA-directed RNA polymerase complex", "go_biological_process": "GO:0001193 maintenance of transcriptional fidelity during transcription elongation by RNA polymerase II;GO:0006366 transcription by RNA polymerase II;GO:0006367 transcription initiation at RNA polymerase II promoter;GO:0006368 transcription elongation by RNA polymerase II;GO:0006283 transcription-coupled nucleotide-excision repair", "synthesized_glycan_count": 0, "hit_score": 59.3, "record_id": "P36954-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TZJ5-1", "uniprot_id": [ { "id": "S31A1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TZJ5", "type": "external" } ], "mass": 148561.0, "length": 1347, "protein_name": "Spermatogenesis-associated protein 31A1", "gene_name": "SPATA31A1", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 31A1", "refseq_ac": [ { "id": "NP_001078921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078921", "type": "external" } ], "gene_names_uniprotkb": "SPATA31A1; C9orf36; FAM75A1; FAM75A2; SPATA31A2", "gene_names_refseq": "C9orf36A; C9orf36; FAM75A1; FAM75A2; SPATA31A1; SPATA31A2", "protein_names_uniprotkb": "Spermatogenesis-associated protein 31A1; Protein FAM75A1", "protein_names_refseq": "SPATA31 subfamily A, member 2; family with sequence similarity 75, member A1; family with sequence similarity 75, member A2; protein FAM75A1; protein FAM75A2; spermatogenesis-associated protein 31A1; spermatogenesis-associated protein 31A2", "tax_id": 9606, "disease": "", "pathway": " (hsa:647060)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "31844290;35051231", "class_list": "", "function": "May play a role in spermatogenesis., [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": "Q5RGS2", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5TZJ5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0J6-1", "uniprot_id": [ { "id": "RM36_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0J6", "type": "external" } ], "mass": 11784.0, "length": 103, "protein_name": "Large ribosomal subunit protein bL36m", "gene_name": "MRPL36", "organism": "Human", "refseq_name": "large ribosomal subunit protein bL36m", "refseq_ac": [ { "id": "NP_115868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115868", "type": "external" } ], "gene_names_uniprotkb": "MRPL36; BRIP1", "gene_names_refseq": "L36mt; MRP-L36; MRPL36; PRPL36; RPMJ; bL36m", "protein_names_uniprotkb": "Large ribosomal subunit protein bL36m; 39S ribosomal protein L36, mitochondrial; BRCA1-interacting protein 1; L36mt; MRP-L36", "protein_names_refseq": "39S ribosomal protein L36, mitochondrial; large ribosomal subunit protein bL36m; mitochondrial large ribosomal subunit protein bL36m", "tax_id": 9606, "disease": "", "pathway": " (hsa:64979); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 57, "publication_id_list": "10931946;11237011;11279069;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;2250005;23481700;24715725;25233460;25278503;25576301;25838379;26154972;26992070;27029019;27846572;28063628;28228285;28446606;28514659;28832583;28892042;28904123;29242379;29393594;29786170;30315122;30524438;30833945;31217245;31844290;31998317;32161166;32387766;32488085;32897882;32983136;33141586;33243891;33298915;33691108;33878294;33968037;34509645;34932366;35177605;36302763;36596788;37141370", "class_list": "", "function": "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 2p. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "A4UCS0;B2R4Z2;Q3SWV6;Q9UKL7", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "Q9P0J6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60518-1", "uniprot_id": [ { "id": "RNBP6_HUMAN", "url": "https://www.uniprot.org/uniprot/O60518", "type": "external" } ], "mass": 124714.0, "length": 1105, "protein_name": "Ran-binding protein 6", "gene_name": "RANBP6", "organism": "Human", "refseq_name": "ran-binding protein 6 isoform 2", "refseq_ac": [ { "id": "NP_001230131", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230131", "type": "external" } ], "gene_names_uniprotkb": "RANBP6", "gene_names_refseq": "RANBP6", "protein_names_uniprotkb": "Ran-binding protein 6; RanBP6", "protein_names_refseq": "Ran-GTP binding protein; ran-binding protein 6 isoform 2; ran-binding protein 6", "tax_id": 9606, "disease": "cancer (Disease Ontology:DOID:162)", "pathway": " (hsa:26953)", "pathway_count": 1, "publication_count": 69, "publication_id_list": "11237011;20068231;22009320;23481700;24715725;25418920;25645385;25880248;26154972;26992070;27846572;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28855257;28904123;29229958;29242379;29331515;29393594;29437277;29508533;29557506;29632046;29632711;30315122;30379171;30429286;30524438;30779550;31092671;31154438;31217245;31222486;31530632;31717259;31844290;31848261;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33912179;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34932366;35051231;35318648;35580925;36010968;36215666;36241641;37217939;37938771", "class_list": "", "function": "Data indicate a mechanism of epidermal growth factor receptor (EGFR) regulation through the importin beta family member RAN-binding protein 6 (RanBP6). Publication Status: Online-Only, [RefSeq, PubMed]; May function in nuclear protein import as nuclear transport receptor., [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": 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": "Q5T7X4;Q7Z3V2;Q96E78", "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:0005737 cytoplasm;GO:0005739 mitochondrion;GO:0045202 synapse", "go_biological_process": "GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "O60518-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99666-1", "uniprot_id": [ { "id": "RGPD5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99666", "type": "external" } ], "mass": 198924.0, "length": 1765, "protein_name": "RANBP2-like and GRIP domain-containing protein 5/6", "gene_name": "RGPD5; RGPD6", "organism": "Human", "refseq_name": "RANBP2-like and GRIP domain-containing protein 5/6 isoform 2", "refseq_ac": [ { "id": "NP_001032955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032955", "type": "external" } ], "gene_names_uniprotkb": "RGPD5; RGPD6; RANBP2L1; RANBP2L2; RGP5; RGP6; RGP7; RGPD7", "gene_names_refseq": "RGP6; RGPD6; RGPD7; RanBP2L1; RanBP2L2", "protein_names_uniprotkb": "RANBP2-like and GRIP domain-containing protein 5/6; Ran-binding protein 2-like 1/2; RanBP2-like 1/2; RanBP2L1; RanBP2L2; Sperm membrane protein BS-63", "protein_names_refseq": "RANBP2-like and GRIP domain-containing protein 5/6 isoform 2; RANBP2-like and GRIP domain-containing protein 5/6; RANBP2-like and GRIP domain-containing protein 7; ran-binding protein 2-like 1/2; ranBP2-like 1/2", "tax_id": 9606, "disease": "", "pathway": " (hsa:729540); (hsa:84220)", "pathway_count": 2, "publication_count": 40, "publication_id_list": "10101573;11230166;15710750;17924679;18220336;18452278;18669648;18691976;19413330;19664995;23186163;25418920;25576301;26024233;26992070;28228285;28904123;29242379;29437277;29632046;30315122;30410026;30620550;31154438;31492838;32502341;33141586;33592498;33633747;33912179;33936100;34019948;34087483;34171305;35132862;35513511;36240223;36284347;38665916;39531497", "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": 5, "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": "Q53QN2;Q53T03;Q59GM7;Q9H0B2", "ec_number_list": [], "go_molecular_function": "GO:0019789 SUMO transferase activity", "go_cellular_component": "GO:0005643 nuclear pore;GO:0005737 cytoplasm", "go_biological_process": "GO:0051168 nuclear export;GO:0006607 NLS-bearing protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q99666-1", "record_type": "protein", "filter_code": "0000000.0000101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BQ08-1", "uniprot_id": [ { "id": "RETNB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BQ08", "type": "external" } ], "mass": 11730.0, "length": 111, "protein_name": "Resistin-like beta", "gene_name": "RETNLB", "organism": "Human", "refseq_name": "resistin-like beta isoform 1 precursor", "refseq_ac": [ { "id": "NP_115968", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115968", "type": "external" } ], "gene_names_uniprotkb": "RETNLB; CCRG; FIZZ2; HXCP2; PRO770; RETNL2", "gene_names_refseq": "FIZZ1; FIZZ2; HXCP2; RELM-beta; RELMbeta; RELMb; RETNLB; XCP2", "protein_names_uniprotkb": "Resistin-like beta; Colon and small intestine-specific cysteine-rich protein; Colon carcinoma-related gene protein; Cysteine-rich secreted protein A12-alpha-like 1; Cysteine-rich secreted protein FIZZ2; RELMbeta", "protein_names_refseq": "C/EBP-epsilon regulated myeloid-specific secreted cysteine-rich protein precursor 2; colon and small intestine-specific cysteine-rich protein; colon carcinoma-related gene protein; cysteine-rich secreted A12-alpha-like protein 1; cysteine-rich secreted protein A12-alpha-like 1; cysteine-rich secreted protein FIZZ2; found in inflammatory zone 1; resistin-like beta isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:84666)", "pathway_count": 1, "publication_count": 11, "publication_id_list": "11090083;11209052;12224133;12975309;29557506;30120989;30799148;32166670;34158059;34211107;36707698", "class_list": "", "function": "Helicobacter pylori Infection Facilitates the Expression of Resistin-like Molecule Beta in Gastric Carcinoma and Precursor Lesions., [RefSeq, PubMed]; Investigated the function and mechanism of RELM-beta in TGF-beta1-induced endothelium-mesenchymal transition in endothelial cell lines. We found that TGF-beta1 stimulation significantly upregulated RELM-beta expression; RELM-beta knockdown could attenuate TGF-beta1-induced cell proliferation and migration of endothelial cell lines., [RefSeq, PubMed]; Investigating resistin like beta (RETNLB) as a tumor promoter for oral squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Plasma RELMbeta levels in necrotizing enterocolitis group were significantly higher than control group., [RefSeq, PubMed]; Probable hormone., [UniProtKB]; Resistin-like beta reduction is associated to low survival rate and is downregulated by adjuvant therapy in colorectal cancer patients. Publication Status: Online-Only, [RefSeq, PubMed]; Supernatant from COS cells transfected with the CCRG (RETNLB) expression vector stimulated proliferation of colon cancer cells, which supports the growth factor nature of the RETNLB gene., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "Q14D27", "ec_number_list": [], "go_molecular_function": "GO:0005179 hormone activity", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0050673 epithelial cell proliferation", "synthesized_glycan_count": 0, "hit_score": 1.2, "record_id": "Q9BQ08-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y4F9-1", "uniprot_id": [ { "id": "RIPR2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y4F9", "type": "external" } ], "mass": 118519.0, "length": 1068, "protein_name": "Rho family-interacting cell polarization regulator 2", "gene_name": "RIPOR2", "organism": "Human", "refseq_name": "rho family-interacting cell polarization regulator 2 isoform 4", "refseq_ac": [ { "id": "NP_001273375", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273375", "type": "external" } ], "gene_names_uniprotkb": "RIPOR2; C6orf32; DIFF48; FAM65B; KIAA0386; PL48", "gene_names_refseq": "C6orf32; DFNA21; DFNB104; DIFF40; DIFF48; FAM65B; MYONAP; PL48; RIPOR2", "protein_names_uniprotkb": "Rho family-interacting cell polarization regulator 2", "protein_names_refseq": "family with sequence similarity 65 member B; myogenesis-related and NCAM-associated protein homolog; protein FAM65B; rho family-interacting cell polarization regulator 2 isoform 4", "tax_id": 9606, "disease": "autosomal recessive nonsyndromic deafness 104 (Disease Ontology:DOID:0110465); autosomal dominant nonsyndromic deafness 21 (Disease Ontology:DOID:0110551)", "pathway": " (hsa:9750); (R-HSA-9662360); (R-HSA-9662361)", "pathway_count": 3, "publication_count": 78, "publication_id_list": "10025409;10821263;11163272;11237011;17150207;19367720;23241886;23481700;24366607;24687993;24714562;24715725;24958875;25418920;25576301;25588844;25645385;25880248;26154972;26375851;26728094;26992070;27543614;27556504;27600516;27846572;27869121;28218747;28228285;28832583;28834231;28904123;29242379;29351928;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;29789417;30254631;30315122;30379171;30720667;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32350084;32357974;32502341;32631815;32983136;33091337;33123756;33141586;33298915;33592498;33691108;33717175;33912179;34211107;34561969;34932366;35051231;35494241;35561310;35580925;36284347;36497200;37938771;9055809", "class_list": "", "function": "Acts as an inhibitor of the small GTPase RHOA (PubMed:25588844). Plays a role in fetal mononuclear myoblast differentiation by promoting filopodia and myotube formation (PubMed:17150207). Maintains naive T lymphocytes in a quiescent state (PubMed:27556504)., [UniProtKB, PubMed, PubMed, PubMed]; Acts as an inhibitor of the small GTPase RHOA and plays several roles in the regulation of myoblast and hair cell differentiation, lymphocyte T proliferation and neutrophil polarization (PubMed:17150207, PubMed:23241886, PubMed:24687993, PubMed:24958875, PubMed:25588844, PubMed:27556504). Inhibits chemokine-induced T lymphocyte responses, such as cell adhesion, polarization and migration (PubMed:23241886). Involved also in the regulation of neutrophil polarization, chemotaxis and adhesion (By similarity). Required for normal development of inner and outer hair cell stereocilia within the cochlea of the inner ear (By similarity). Plays a role for maintaining the structural organization of the basal domain of stereocilia (By similarity). Involved in mechanosensory hair cell function (By similarity). Required for normal hearing (PubMed:24958875)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; RIPOR2 Expression Decreased by HPV-16 E6 and E7 Oncoproteins: An Opportunity in the Search for Prognostic Biomarkers in Cervical Cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Results show that Fam65b expression and phosphorylation can finely tune the amount of active RhoA in order to favor optimal T lymphocyte motility. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016]., [RefSeq]; This is the first study to explore and validate the relationships between seven SNPs in the FAM65B, AGBL4, and CUX2 genes and ATDH in a Chinese population. On the basis of this case-control study, SNP rs10946737 in FAM65B may be associated with susceptibility to ATDH in Chinese Han anti-TB treatment 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": 8, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 24, "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": "A6NHP2;Q13529;Q5VV37;Q5VV38;Q9BQ28", "ec_number_list": [], "go_molecular_function": "GO:0071889 14-3-3 protein binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005856 cytoskeleton;GO:0016324 apical plasma membrane;GO:0030175 filopodium", "go_biological_process": "GO:1990869 cellular response to chemokine;GO:0006935 chemotaxis;GO:0007155 cell adhesion;GO:0007162 negative regulation of cell adhesion;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 8.1, "record_id": "Q9Y4F9-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92681-1", "uniprot_id": [ { "id": "RSCA1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92681", "type": "external" } ], "mass": 66790.0, "length": 617, "protein_name": "Regulatory solute carrier protein family 1 member 1", "gene_name": "RSC1A1", "organism": "Human", "refseq_name": "regulatory solute carrier protein family 1 member 1", "refseq_ac": [ { "id": "NP_006502", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006502", "type": "external" } ], "gene_names_uniprotkb": "RSC1A1", "gene_names_refseq": "RS1; RSC1A1", "protein_names_uniprotkb": "Regulatory solute carrier protein family 1 member 1; Transporter regulator RS1; hRS1", "protein_names_refseq": "regulatory solute carrier protein family 1 member 1; regulatory solute carrier protein, family 1, member 1; transporter regulator RS1", "tax_id": 9606, "disease": "obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:6248); (R-HSA-549127); (R-HSA-8981373)", "pathway_count": 3, "publication_count": 48, "publication_id_list": "10072434;10196521;10966924;12089149;12372408;12384147;12885248;14608356;14674884;14724758;15107849;15184985;1550217;15546855;15795384;16330770;1634504;16788146;16788147;16807400;1701966;17509534;17686765;24715725;26154972;26522469;27555600;30355744;31530632;31844290;31998317;32157095;32387766;33141586;34509645;35051231;7989337;8457197;8563765;8647271;8836035;9260930;9354798;9520460;9655880;9685390;9744804;9751501", "class_list": "", "function": "A domain of protein RS1 (RSC1A1) called RS1-Reg down-regulates the plasma membrane abundance of Na(+)-d-glucose cotransporter., [RefSeq, PubMed]; Binding of RS1-Reg to ODC1 inhibits the enzymatic activity at low intracellular glucose, which is blunted at high intracellular glucose., [RefSeq, PubMed]; HRS1 protein exhibits glucose-dependent, short-term inhibition of hSGLT1 and hOCT2 by inhibiting the release of vesicles from the trans-Golgi network, [RefSeq, PubMed]; Mediates transcriptional and post-transcriptional regulation of SLC5A1. Inhibits a dynamin and PKC-dependent exocytotic pathway of SLC5A1. Also involved in transcriptional regulation of SLC22A2. Exhibits glucose-dependent, short-term inhibition of SLC5A1 and SLC22A2 by inhibiting the release of vesicles from the trans-Golgi network., [UniProtKB, PubMed, PubMed, PubMed]; Taken together, these data indicate that RSC1A1 modulates dynamin-dependent trafficking of intracellular vesicles containing hSGLT1 in Xenopus oocytes, and modulates PKC-dependent short-term regulation of this transporter., [RefSeq, PubMed]; The protein encoded by this intronless gene inhibits the expression of the solute carrier family 5 (sodium/glucose cotransporter), member 1 gene (SLC5A1) and downregulates exocytosis of the SLC5A1 protein. The encoded protein is sometimes found coating the trans-Golgi network and other times is localized to the nucleus, depending on the cell cycle stage. This protein also inhibits the expression of solute carrier family 22 (organic cation transporter), member 2 (SLC22A2). [provided by RefSeq, Dec 2015]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B2RBP5", "ec_number_list": [], "go_molecular_function": "GO:0019871 sodium channel inhibitor activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016604 nuclear body", "go_biological_process": "GO:0010829 negative regulation of D-glucose transmembrane transport;GO:0006351 DNA-templated transcription;GO:1903077 negative regulation of protein localization to plasma membrane;GO:0042997 negative regulation of Golgi to plasma membrane protein transport;GO:0051051 negative regulation of transport", "synthesized_glycan_count": 0, "hit_score": 4.9, "record_id": "Q92681-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95487-1", "uniprot_id": [ { "id": "SC24B_HUMAN", "url": "https://www.uniprot.org/uniprot/O95487", "type": "external" } ], "mass": 137418.0, "length": 1268, "protein_name": "Protein transport protein Sec24B", "gene_name": "SEC24B", "organism": "Human", "refseq_name": "protein transport protein Sec24B isoform b", "refseq_ac": [ { "id": "NP_001036199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036199", "type": "external" } ], "gene_names_uniprotkb": "SEC24B", "gene_names_refseq": "SEC24B; SEC24", "protein_names_uniprotkb": "Protein transport protein Sec24B; SEC24-related protein B", "protein_names_refseq": "SEC24 homolog B, COPII coat complex component; SEC24 related gene family, member B; protein transport protein Sec24B isoform b; protein transport protein Sec24B; secretory protein 24", "tax_id": 9606, "disease": "", "pathway": " (hsa:10427); (R-HSA-1655829); (R-HSA-204005); (R-HSA-2132295); (R-HSA-5694530); (R-HSA-9705671); (R-HSA-983170)", "pathway_count": 7, "publication_count": 359, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10036229;10064069;10064083;10072072;10075675;10397761;10428864;10445031;10480952;10540230;10559958;10559959;10593899;10600378;10631941;10631952;10639150;10644685;10652252;10679020;10747087;10748235;10777614;10788476;10805775;10809954;10825291;10903204;10982397;11035026;11160214;11163199;11283257;11285137;11306556;11514579;11529500;11684289;11790530;11813165;11853874;11927603;12019269;12070132;12078484;12198549;12235121;12237308;12436109;12436110;12645939;12692549;12742663;12748383;12759408;14645851;14681859;14718384;14731593;15037235;15208624;15286279;15550381;15749704;15911768;15927284;16094384;16129679;16181339;16242130;16303754;16465444;16473882;16495487;16618111;16624868;16824007;16912714;17005010;17010120;17038314;17056546;17081983;17088086;17142755;17192411;17283181;17287728;17316621;17449569;17499046;17562788;17607000;17656363;17684057;18025080;18046453;18083107;18283111;18287528;18292509;18669648;18843296;19119025;19164740;19193869;19261456;19265014;19269366;19342655;19361863;19426129;1956401;19564404;19566487;19575639;19638414;19651622;19656848;19706601;19851281;20068231;2038058;20427317;20477988;20533886;20545907;20605430;20679433;20805473;20966969;21050182;21116285;2121367;21441454;21478858;21525241;21532587;21689688;21740066;21878990;2190094;22013193;22157747;22661428;22675024;22941947;23186163;23301498;23378591;23479643;23481700;23584533;23592378;23698585;23852824;23864707;2391366;24119662;24275569;24405750;2450918;24715725;24917561;25202031;25406594;25492864;25576301;25586378;25619252;25619253;25645385;25813380;25892735;26768311;26992070;27452731;27655845;27846572;27862975;27920218;28218747;28228285;28604694;28657654;28832583;28834231;28904123;29237092;29242379;29351928;29393594;29437277;29493099;29557506;29769354;29786170;30059200;30315122;30397120;30410026;30429286;30524438;30620550;30779550;31154438;31217245;31492838;31844290;31848261;31850239;31875875;31998317;32119511;32157095;32161166;32350084;32353859;32357974;32387766;32428392;32574038;32589897;32690950;32726803;32728199;32897882;32938616;32938750;32953130;32979938;32983136;33024073;33060197;33097660;33110251;33214551;33298915;33349665;33360543;33372174;33372854;33392160;33396605;33440148;33479219;33495715;33514628;33537174;33567255;33717175;33718825;33723219;33723527;33727702;33801464;33807682;33849972;33895773;33912179;33963333;33968037;33981976;33989516;33990585;34019948;34021074;34054808;34084167;34110168;34166398;34171305;34239064;34290717;34341353;34357683;34375313;34400613;34405274;34439781;34452305;34471099;34502139;34509645;34597346;34725712;34846842;35051231;35102342;35132862;35138101;35254053;35289036;35513511;35580925;35643212;35705054;36010968;36240223;36241641;36284347;36536241;37051252;37340703;37541260;37938771;38665916;38838015;39302247;39531497;39534244;40307207;40596516;7481823;7592972;7642652;7650016;7667286;7876241;8046351;8134367;8145819;8148318;8156598;8221884;8313912;8342042;8397411;8415765;8620540;8642258;8663406;8674110;8687433;8849454;8909537;8939989;8947036;9075930;9094723;9150144;9177194;9202021;9307973;9311912;9312039;9395526;9472029;9488713;9497313;9539769;9545226;9605141;9606180;9634703;9647643;9659902", "class_list": "", "function": "Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:17499046, PubMed:18843296, PubMed:20427317). Plays a central role in cargo selection within the COPII complex and together with SEC24A may have a different specificity compared to SEC24C and SEC24D. May package preferentially cargos with cytoplasmic DxE or LxxLE motifs and may also recognize conformational epitopes (PubMed:17499046, PubMed:18843296)., [UniProtKB, PubMed, PubMed, PubMed]; Microglia ferroptosis is regulated by SEC24B and contributes to neurodegeneration., [RefSeq, PubMed]; Results show that functional mutations in SEC24B might contribute to the etiology of a subset of human Neural Tube Defects (NTDs)., [RefSeq, PubMed]; The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein is thought to be a cargo-binding component of the COPII vesicle, and is thought to be involved in the transport of secretory proteins from the endoplasmic reticulum to the Golgi apparatus. Mutations in this gene have been associated with neural tube defects, and are thought to be a result of a disruption in interactions with the protein encoded by the VANGL planar cell polarity protein 2 (VANGL2) gene. 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": 50, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 50, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 50, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 89, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 50, "binding_glycan_count": 0, "secondary_ac_list": "B7ZKM8;B7ZKN4;Q0VG08", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0000149 SNARE binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005789 endoplasmic reticulum membrane;GO:0012507 ER to Golgi transport vesicle membrane;GO:0070971 endoplasmic reticulum exit site", "go_biological_process": "GO:0090110 COPII-coated vesicle cargo loading;GO:0006886 intracellular protein transport;GO:0006888 endoplasmic reticulum to Golgi vesicle-mediated transport;GO:1902953 positive regulation of ER to Golgi vesicle-mediated transport;GO:0070863 positive regulation of protein exit from endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 41.3, "record_id": "O95487-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TG30-1", "uniprot_id": [ { "id": "RHG40_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TG30", "type": "external" } ], "mass": 74488.0, "length": 675, "protein_name": "Rho GTPase-activating protein 40", "gene_name": "ARHGAP40", "organism": "Human", "refseq_name": "rho GTPase-activating protein 40", "refseq_ac": [ { "id": "NP_001157903", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001157903", "type": "external" } ], "gene_names_uniprotkb": "ARHGAP40; C20orf95", "gene_names_refseq": "ARHGAP40; C20orf95; dJ1100H13.4", "protein_names_uniprotkb": "Rho GTPase-activating protein 40; Rho-type GTPase-activating protein 40", "protein_names_refseq": "rho GTPase-activating protein 40; rho-type GTPase-activating protein 40", "tax_id": 9606, "disease": "", "pathway": " (hsa:343578); (R-HSA-8980692); (R-HSA-9013148)", "pathway_count": 3, "publication_count": 245, "publication_id_list": "10037681;10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10619026;10699171;10699464;10724160;10873388;10873802;11007481;11058585;11085924;11149925;11207612;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11680691;11689693;11696321;11704860;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11948177;12071859;12093360;12096337;12172552;12195014;12221077;12221096;12351724;12432077;12464619;12531887;12547822;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;15023524;15064355;15107133;15133129;15147912;15157669;15260990;15302923;15304341;15342493;15485661;15601624;15611138;15728722;15850391;15866170;15897194;16112081;16116428;16184169;16217026;16467373;16519628;16630611;16714282;16776779;16777452;16777849;16862148;16896804;16914516;16968698;17064668;17077126;17145773;17196961;17214551;17244649;17562871;17599059;17702745;17765681;17804252;17932950;17942708;17976533;18045877;18056264;18158243;18218625;18363964;18426980;18653540;18786931;18829452;18835169;18838382;18929667;19494238;19605563;19635168;19673492;19713215;19934221;20030946;20101212;20400958;20591975;20628200;20660154;20679435;21148482;21351730;21454492;21542010;21565175;21613211;21685891;21699497;21865595;21936715;21989057;22004470;22096251;22298643;22305756;22461490;22571869;22608513;22673745;22911862;22970203;22992742;23200924;23255595;23406282;23434736;23572525;23718289;23870313;24086303;24128008;24259668;24335996;24352656;24584464;24933155;24996924;25024229;25211221;25704760;25721503;25795300;25862245;25963737;26129894;26299518;26371245;26529257;26598554;26887924;27096001;27145964;27216196;27481945;27555588;27798618;27986909;28028151;28112683;28196833;28584191;28825699;28860633;29146911;30061681;30853411;31105010;31871319;32203420;37822129;39894887;7479768;7512369;7673236;7721814;7753201;8021274;8537347;8543060;8571126;8617235;8643598;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8807639;8810315;8816443;8939998;8994827;9013646;9111050;9113980;9268338;9305890;9405671;9418861;9438849;9490638;9497316;9535835;9548756;9659915;9670022;9792683;9822605;9829970;9843499;9846874", "class_list": "", "function": "GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state., [UniProtKB, UniProtKB, UniProtKB]; Loss of ARHGAP40 expression in basal cell carcinoma via CpG island 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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:0005096 GTPase activator activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0007165 signal transduction;GO:0051056 regulation of small GTPase mediated signal transduction;GO:0030833 regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 24.8, "record_id": "Q5TG30-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NC42-1", "uniprot_id": [ { "id": "RN149_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NC42", "type": "external" } ], "mass": 43165.0, "length": 400, "protein_name": "E3 ubiquitin-protein ligase RNF149", "gene_name": "RNF149", "organism": "Human", "refseq_name": "E3 ubiquitin-protein ligase RNF149 precursor", "refseq_ac": [ { "id": "NP_775918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775918", "type": "external" } ], "gene_names_uniprotkb": "RNF149; DNAPTP2", "gene_names_refseq": "DNAPTP2; RNF149", "protein_names_uniprotkb": "E3 ubiquitin-protein ligase RNF149; 2.3.2.27; DNA polymerase-transactivated protein 2; RING finger protein 149; RING-type E3 ubiquitin transferase RNF149", "protein_names_refseq": "DNA polymerase-transactivated protein 2; E3 ubiquitin-protein ligase RNF149 precursor; E3 ubiquitin-protein ligase RNF149; RING-type E3 ubiquitin transferase RNF149", "tax_id": 9606, "disease": "", "pathway": " (hsa:284996)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10.1101/2023.09.13.557529;11237011;16959974;22628551;24190977;28467828;28832583;29242379;29314611;29557506;29632711;29786170;30779550;32350084;32983136;33592498;33912179;33936100;34357683;34433824;35051231;35154160;35251023;36215666;36284347;37074911", "class_list": "", "function": "Data show that RNF149 (RING finger protein 149) interacts with wild-type BRAF., [RefSeq, PubMed]; E3 ubiquitin-protein ligase. Ubiquitinates BRAF, inducing its proteasomal degradation., [UniProtKB, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 15, "reported_interactions": 0, "missing_score": 9641, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q53S14;Q8N5I8;Q8NBY5;Q8WUU3", "ec_number_list": [], "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:0016020 membrane;GO:0005770 late endosome", "go_biological_process": "GO:0016567 protein ubiquitination;GO:0006511 ubiquitin-dependent protein catabolic process", "synthesized_glycan_count": 0, "hit_score": 3.1, "record_id": "Q8NC42-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q4U2R6-1", "uniprot_id": [ { "id": "RM51_HUMAN", "url": "https://www.uniprot.org/uniprot/Q4U2R6", "type": "external" } ], "mass": 15095.0, "length": 128, "protein_name": "Large ribosomal subunit protein mL51", "gene_name": "MRPL51", "organism": "Human", "refseq_name": "large ribosomal subunit protein mL51", "refseq_ac": [ { "id": "NP_057581", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057581", "type": "external" } ], "gene_names_uniprotkb": "MRPL51; CDA09; HSPC241; MRP64", "gene_names_refseq": "CDA09; HSPC241; MRP64; MRPL51; bMRP64; mL51", "protein_names_uniprotkb": "Large ribosomal subunit protein mL51; 39S ribosomal protein L51, mitochondrial; L51mt; MRP-L51; bMRP-64; bMRP64", "protein_names_refseq": "39S ribosomal protein L51, mitochondrial; L51mt; MRP-L51; bMRP-64; large ribosomal subunit protein mL51; mitochondrial large ribosomal subunit protein mL51; mitochondrial ribosomal protein 64; mitochondrial ribosomal protein bMRP64", "tax_id": 9606, "disease": "", "pathway": " (hsa:51258); (R-HSA-5368286); (R-HSA-5389840); (R-HSA-5419276); (R-HSA-9937383)", "pathway_count": 5, "publication_count": 61, "publication_id_list": "11237011;11402041;11543634;11551941;15358359;17803939;18429816;18782833;19524667;19716793;20186120;20877624;21907147;22172991;22424782;2250005;23481700;25233460;25278503;25576301;25838379;26768311;26992070;27029019;27600516;27846572;27920218;28228285;28832583;28834231;28892042;28904123;29242379;29393594;29493099;29557506;29632046;30315122;30429286;30833945;31530632;31844290;31848261;32157095;32350084;32357974;32938616;33243891;33592498;33878294;33912179;33936100;33968037;34171305;35051231;35177605;36215666;36302763;36581221;36596788;37141370", "class_list": "", "function": "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. Pseudogenes corresponding to this gene are found on chromosomes 4p and 21q. [provided by RefSeq, Jul 2008]., [RefSeq]; Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "Q96Q57;Q9BQ36;Q9P0N7", "ec_number_list": [], "go_molecular_function": "GO:0003735 structural constituent of ribosome", "go_cellular_component": "GO:0005762 mitochondrial large ribosomal subunit;GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005761 mitochondrial ribosome;GO:0005840 ribosome", "go_biological_process": "GO:0006412 translation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q4U2R6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O14802-1", "uniprot_id": [ { "id": "RPC1_HUMAN", "url": "https://www.uniprot.org/uniprot/O14802", "type": "external" } ], "mass": 155641.0, "length": 1390, "protein_name": "DNA-directed RNA polymerase III subunit RPC1", "gene_name": "POLR3A", "organism": "Human", "refseq_name": "DNA-directed RNA polymerase III subunit RPC1", "refseq_ac": [ { "id": "NP_008986", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008986", "type": "external" } ], "gene_names_uniprotkb": "POLR3A", "gene_names_refseq": "ADDH; C160; HLD7; POLR3A; RPC155; RPC1; WDRTS; hRPC155", "protein_names_uniprotkb": "DNA-directed RNA polymerase III subunit RPC1; 2.7.7.6; DNA-directed RNA polymerase III largest subunit; DNA-directed RNA polymerase III subunit A; RNA polymerase III 155 kDa subunit; RNA polymerase III subunit C160; RNA polymerase III subunit C1; RPC155", "protein_names_refseq": "DNA-directed RNA polymerase III largest subunit; DNA-directed RNA polymerase III subunit A; DNA-directed RNA polymerase III subunit RPC1; RNA polymerase III 155 kDa subunit; RNA polymerase III subunit C160; RNA polymerase III subunit C1; RNA polymerase III subunit RPC155-D; polymerase (RNA) III (DNA directed) polypeptide A, 155kDa; polymerase (RNA) III subunit A", "tax_id": 9606, "disease": "hypomyelinating leukodystrophy (Disease Ontology:DOID:0060786); hypomyelinating leukodystrophy 7 (Disease Ontology:DOID:0060794); Wiedemann-Rautenstrauch syndrome (Disease Ontology:DOID:0081333)", "pathway": " (hsa:11128); (R-HSA-1834949); (R-HSA-73780); (R-HSA-73980); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066); (R-HSA-76071)", "pathway_count": 8, "publication_count": 117, "publication_id_list": "10421633;11056176;11118217;11237011;11416169;11419933;11463379;12381659;12384934;12391170;18077418;18767875;19158675;19158676;19158679;1946469;19608861;19609254;19631370;20068231;20413673;21398614;21855841;22036171;23251783;23355746;23388631;23481700;23694757;2404611;24366607;24714562;24715725;25880248;26154972;26728094;26811146;26992070;27612211;27846572;27920218;28228285;28510447;28514659;28832583;28834231;28904123;29242379;29393594;29437277;29508533;29557506;29786170;30315122;30323018;30414627;30429286;30450527;30779550;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32357974;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33335104;33558764;33558766;33592498;33674783;33691108;33912179;33936100;33968037;33981976;34087483;34229054;34509645;34561969;34675218;34932366;35051231;35318648;35561310;35580925;35637192;36215666;36241641;37938771;38348603;38561452;39436788;39894887;7568218;7891697;7995525;8035818;8308883;8407894;8423814;9003788;9171375;9234698;9312031;9331371;9418884;9660958", "class_list": "", "function": "Catalytic core component of RNA polymerase III (Pol III), a DNA-dependent RNA polymerase which synthesizes small non-coding RNAs using the four ribonucleoside triphosphates as substrates. Synthesizes 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci (PubMed:19609254, PubMed:19631370, PubMed:20413673, PubMed:33335104, PubMed:33558764, PubMed:33558766, PubMed:34675218, PubMed:35637192, PubMed:9331371). Pol III-mediated transcription cycle proceeds through transcription initiation, transcription elongation and transcription termination stages. During transcription initiation, Pol III is recruited to DNA promoters type I, II or III with the help of general transcription factors and other specific initiation factors. 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 (PubMed:20413673, PubMed:33335104, PubMed:33558764, PubMed:33558766, PubMed:33674783, PubMed:34675218). Forms Pol III active center together with the second largest subunit POLR3B/RPC2. Appends one nucleotide at a time to the 3' end of the nascent RNA, with POLR3A/RPC1 contributing a Mg(2+)-coordinating DxDGD motif, and POLR3B/RPC2 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 (PubMed:19609254, PubMed:20413673, PubMed:33335104, PubMed:33558764, PubMed:33674783, PubMed:34675218, PubMed:9331371). Pol III plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as a nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF-kappa-B through the RIG-I pathway., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation. Erratum:[Sci Rep. 2024 Sep 10;14(1):21122. doi: 10.1038/s41598-024-72293-3. PMID: 39256586] Publication Status: Online-Only, [RefSeq, PubMed]; DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A., [RefSeq, PubMed]; The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]., [RefSeq]; Tremor Ataxia With Central Hypomyelation Phenotype Related to a Recurrent POLR3A Mutation in Six Unrelated Tunisian 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": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 30, "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": "Q8IW34;Q8TCW5", "ec_number_list": [ { "id": "2.7.7.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.6", "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": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" } ], "go_molecular_function": "GO:0000287 magnesium ion binding;GO:0003677 DNA binding;GO:0003682 chromatin binding;GO:0008270 zinc ion binding;GO:0003899 DNA-directed RNA polymerase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0042797 tRNA transcription by RNA polymerase III;GO:0006351 DNA-templated transcription;GO:0045087 innate immune response;GO:0051607 defense response to virus;GO:0006383 transcription by RNA polymerase III", "synthesized_glycan_count": 0, "hit_score": 12.0, "record_id": "O14802-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99614-1", "uniprot_id": [ { "id": "TTC1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99614", "type": "external" } ], "mass": 33526.0, "length": 292, "protein_name": "Tetratricopeptide repeat protein 1", "gene_name": "TTC1", "organism": "Human", "refseq_name": "tetratricopeptide repeat protein 1", "refseq_ac": [ { "id": "NP_001269429", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269429", "type": "external" } ], "gene_names_uniprotkb": "TTC1; TPR1", "gene_names_refseq": "TPR1; TTC1", "protein_names_uniprotkb": "Tetratricopeptide repeat protein 1; TPR repeat protein 1", "protein_names_refseq": "TPR repeat protein 1; tetratricopeptide repeat protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:7265)", "pathway_count": 1, "publication_count": 55, "publication_id_list": "11237011;12748287;14503850;15708368;18669648;19651622;20068231;20639119;21406692;21486497;22711498;23186163;23301498;26992070;28063628;28228285;28510447;28832583;28834231;28904123;29120066;29242379;29351928;29393594;29508533;29557506;29632046;30315122;30429286;31611695;31844290;31848261;31998317;32157095;32265295;32387766;32938616;33298915;33592498;33968037;34019948;34171305;34509645;34561969;34932366;35154160;35254053;35561310;35580925;36241641;36284347;37938771;39534244;40596516;8836031", "class_list": "", "function": "Adapter protein that plays a role downstream of GNA15 to stimulate Ras activation and subsequent phosphorylation of ERK1/2 independently of phospholipase Cbeta signaling. Mechanistically, interacts with GNA15 and SOS2 to form a macromolecular signaling complex which has a high affinity for HRAS. Additionally, participates in signaling via other G-alpha proteins like GNA14, activating NF-kappa-B through Ras and ERK pathways. Beyond signaling, supports protein homeostasis by cooperating with HSP40 in the HSP70 chaperone cycle, promoting protein folding through the regulated dissociation of the HSP70 inhibitor HSPBP1., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Beta3 region of Galpha16 is essential for interaction with TPR1 and the subsequent activation of Ras Publication Status: Online-Only, [RefSeq, PubMed]; Data show that tetratricopeptide repeat 1 is a novel adaptor protein for Ras and selected Galpha proteins that may be involved in protein-protein interaction relating to G-protein signaling., [RefSeq, PubMed]; Results report cooperative interactions involving Hsp70, Hsp40, and TPR1 that enhance Hsp70-dependent folding of chemically denatured substrates., [RefSeq, PubMed]; TPR1 is required for Galpha14 to stimulate Ras-dependent signaling pathways, but not for the propagation of signals along Ras-independent pathways., [RefSeq, PubMed]; This gene encodes a protein that belongs to the tetratrico peptide repeat superfamily of proteins. The encoded protein plays a role in protein-protein interactions, and binds to the Galpha subunit of G protein-coupled receptors to activate the Ras signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 6, "reported_mutagensis": 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": "B2RCT2;D3DQJ8;Q9BVT3", "ec_number_list": [], "go_molecular_function": "GO:0030674 protein-macromolecule adaptor activity;GO:0051082 unfolded protein binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005778 peroxisomal membrane;GO:0005829 cytosol", "go_biological_process": "GO:0070098 chemokine-mediated signaling pathway;GO:0050729 positive regulation of inflammatory response;GO:0006457 protein folding;GO:0150078 positive regulation of neuroinflammatory response", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q99614-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60499-1", "uniprot_id": [ { "id": "STX10_HUMAN", "url": "https://www.uniprot.org/uniprot/O60499", "type": "external" } ], "mass": 28114.0, "length": 249, "protein_name": "Syntaxin-10", "gene_name": "STX10", "organism": "Human", "refseq_name": "syntaxin-10 isoform 4", "refseq_ac": [ { "id": "NP_001258540", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001258540", "type": "external" } ], "gene_names_uniprotkb": "STX10; SYN10", "gene_names_refseq": "STX10; SYN10; hsyn10", "protein_names_uniprotkb": "Syntaxin-10; Syn10", "protein_names_refseq": "syntaxin-10 isoform 4", "tax_id": 9606, "disease": "", "pathway": " (hsa:8677); (R-HSA-6811440)", "pathway_count": 2, "publication_count": 107, "publication_id_list": "10209123;10445031;10559959;10637310;10865125;10990452;11237011;11303027;11346801;11359012;11689439;11827983;11839770;12070132;12377769;12620188;12620189;14580338;14718928;15029241;15037235;15077113;15077114;15128430;15269279;15483056;15654769;15758030;15870108;15878329;16042553;16129887;16154903;16571679;16885419;16912714;16936697;17451557;17488291;17562788;17684057;17698061;18195106;18243103;18256213;18367545;18578522;18664496;18669648;18691976;18946081;19164740;19490898;19620288;19651622;19690332;20058876;20068231;20166139;20230923;20685960;21183348;21421921;21436057;21689688;21807881;22335553;22354037;22581368;22717455;23091056;23186163;23437303;24794632;25343031;25502872;26442221;27920218;28514659;29242379;29786170;30573663;31844290;32157095;32162841;32350084;32938616;32983136;33936100;33968037;33981976;34357683;34433824;35051231;35154160;35251023;7909812;8221884;8440258;8620540;8636227;8670882;9050864;9177194;9230071;9446797;9590177", "class_list": "", "function": "Loss of syntaxin 10 leads to defects in normal chlamydial maturation including: variable inclusion size with fewer chlamydial organisms per inclusion, fewer infectious progeny, and delayed or halted reticulate body-elementary body differentiation. Publication Status: Online-Only, [RefSeq, PubMed]; May have a hitherto unrecognized function in the trans-Golgi network-endosome boundary. Erratum:[Mol Membr Biol. 2005 Sep-Oct;22(5):453], [RefSeq, PubMed]; SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network., [UniProtKB, PubMed]; This gene belongs to the syntaxin family and encodes a soluble N-ethylmaleimide sensitive factor attachment protein receptor (SNARE). The encoded protein is involved in docking and fusion events at the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A6NC41;Q6IAP4;Q96AE8", "ec_number_list": [], "go_molecular_function": "GO:0019905 syntaxin binding;GO:0000149 SNARE binding;GO:0005484 SNAP receptor activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005829 cytosol;GO:0032588 trans-Golgi network membrane;GO:0048471 perinuclear region of cytoplasm;GO:0012505 endomembrane system", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0032880 regulation of protein localization;GO:0042147 retrograde transport, endosome to Golgi;GO:0048193 Golgi vesicle transport;GO:0006906 vesicle fusion", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "O60499-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P41252-1", "uniprot_id": [ { "id": "SYIC_HUMAN", "url": "https://www.uniprot.org/uniprot/P41252", "type": "external" } ], "mass": 144498.0, "length": 1262, "protein_name": "Isoleucine--tRNA ligase, cytoplasmic", "gene_name": "IARS1", "organism": "Human", "refseq_name": "isoleucine--tRNA ligase, cytoplasmic isoform 1", "refseq_ac": [ { "id": "NP_002152", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002152", "type": "external" } ], "gene_names_uniprotkb": "IARS1; IARS", "gene_names_refseq": "GRIDHH; IARS1; IARS; ILERS; ILRS; IRS; PRO0785", "protein_names_uniprotkb": "Isoleucine--tRNA ligase, cytoplasmic; 6.1.1.5; IRS; IleRS; Isoleucyl-tRNA synthetase", "protein_names_refseq": "isoleucine tRNA ligase 1, cytoplasmic; isoleucine--tRNA ligase, cytoplasmic isoform 1; isoleucine--tRNA ligase, cytoplasmic", "tax_id": 9606, "disease": "growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy (MONDO:MONDO:0014911)", "pathway": " (hsa:3376); (R-HSA-2408522); (R-HSA-379716); (R-HSA-9856649)", "pathway_count": 4, "publication_count": 210, "publication_id_list": "10567402;10611221;10655586;10673502;11027551;11237011;11347887;11714285;11829477;11840323;11858721;11891324;11912130;11930005;12690580;1373391;14660560;14671330;14975237;15118077;15226305;15507434;16014379;16034366;16055448;16408927;16429158;16661668;16661782;16822840;16906134;1698554;1748288;1761529;17623675;17924679;18644867;18669648;18767875;18991276;19131329;19289464;19413330;19415658;19524539;19608861;19651622;20068231;20460180;21406692;21486943;21965087;22424782;22645359;22647378;22869377;23159739;23186163;23190890;23207919;23301498;23481700;24366607;24706940;24714562;24715725;25248477;25418920;25576301;25595898;25645385;25810538;25880248;25892735;26154972;26375851;26811146;26929215;26992070;27128622;27397612;27426735;27543614;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28394346;28510447;28514659;28649982;28832583;28834231;28904123;29052218;29242379;29295999;29314611;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30397120;30410026;30429286;30779550;30804224;30833945;31020640;31092671;31154438;31217245;31222486;31530632;31611695;31844290;31848261;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32636443;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33633747;33691108;33717175;33744299;33912179;33936100;33968037;33981976;34019948;34087483;34140478;34171305;34185709;34211107;34357683;34405274;34433824;34509645;34561969;34725712;34932366;35051231;35083852;35138101;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36580660;36581221;37217939;37770430;37938771;38665916;38958715;39534244;40914422;4130389;5338216;6022858;656444;7118399;7654687;7721108;7958932;8052601;8078941;8188258;8336698;8428657;8449960;9199364;9278442;9353119;9421509;9431993;9440696;9560246;9676189;9760192;9973413", "class_list": "", "function": "Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]., [RefSeq]; Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Circular RNA IARS modulates the progression and ferroptosis of osteosarcoma via sponging miR-188-5p from RAB14., [RefSeq, PubMed]; Our report presents new evidence that recessive mutations inIARSgene are associated with characteristic clinical phenotype suchas infantile hepatopathy, growth retardation, facial dysmorphism,hypotonia, intellectual disability with no speech ., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 25, "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": "A8KAE9;Q5TCD0;Q7Z3T4;Q9H588", "ec_number_list": [ { "id": "2.7.10.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.1", "type": "external" }, { "id": "6.1.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.12", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "6.1.1.5", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.5", "type": "external" }, { "id": "6.1.1.18", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.18", "type": "external" }, { "id": "6.1.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.19", "type": "external" }, { "id": "6.1.1.10", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.10", "type": "external" }, { "id": "2.7.7.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.7.-", "type": "external" }, { "id": "6.1.1.6", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.6", "type": "external" }, { "id": "6.1.1.4", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.4", "type": "external" } ], "go_molecular_function": "GO:0002161 aminoacyl-tRNA deacylase activity;GO:0004822 isoleucine-tRNA ligase activity;GO:0005524 ATP binding;GO:0000049 tRNA binding;GO:0051020 GTPase binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0017101 aminoacyl-tRNA synthetase multienzyme complex", "go_biological_process": "GO:0006428 isoleucyl-tRNA aminoacylation;GO:0006418 tRNA aminoacylation for protein translation;GO:0001649 osteoblast differentiation", "synthesized_glycan_count": 0, "hit_score": 21.4, "record_id": "P41252-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UBS9-1", "uniprot_id": [ { "id": "SUCO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UBS9", "type": "external" } ], "mass": 139430.0, "length": 1254, "protein_name": "SUN domain-containing ossification factor", "gene_name": "SUCO", "organism": "Human", "refseq_name": "SUN domain-containing ossification factor isoform 4", "refseq_ac": [ { "id": "NP_001269680", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269680", "type": "external" } ], "gene_names_uniprotkb": "SUCO; C1orf9; CH1; OPT; SLP1", "gene_names_refseq": "C1orf9; CH1; OPT; SLP1; SUCO", "protein_names_uniprotkb": "SUN domain-containing ossification factor; Membrane protein CH1; Protein osteopotentia homolog; SUN-like protein 1", "protein_names_refseq": "SUN domain-containing ossification factor isoform 4; SUN-like protein 1; membrane protein CH1; osteopotentia", "tax_id": 9606, "disease": "osteogenesis imperfecta type 5 (Disease Ontology:DOID:0110344)", "pathway": " (hsa:51430)", "pathway_count": 1, "publication_count": 59, "publication_id_list": "10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10673381;11158380;11237011;18669648;23186163;24190977;25576301;25645385;25668491;25813380;25880248;25892735;26992070;27600516;28228285;28512129;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29557506;29741879;30315122;31154438;31611695;31844290;32157095;32161166;32350084;32357974;32938616;32983136;33141586;33392160;33537174;33592498;33912179;33936100;33968037;33981976;34087483;34171305;34185709;34357683;35051231;35251023;35289036;35318648;35494241;35561310;35580925;36010968;37074911;37938771", "class_list": "", "function": "Neurons have abnormal development due to lack of SUCO, which may be a generalized-onset epilepsy-related gene, [RefSeq, PubMed]; Required for bone modeling during late embryogenesis. Regulates type I collagen synthesis in osteoblasts during their postnatal maturation (By similarity)., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "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": 8, "total_reported_o_glycosites": 6, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "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": 60, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 15, "disease_count": 1, "glyco_site_count": 14, "binding_glycan_count": 0, "secondary_ac_list": "B2RNU4;Q9BQB9;Q9BXQ2;Q9UL04", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005791 rough endoplasmic reticulum;GO:0016020 membrane;GO:0030867 rough endoplasmic reticulum membrane", "go_biological_process": "GO:0032967 positive regulation of collagen biosynthetic process;GO:0045669 positive regulation of osteoblast differentiation;GO:0001503 ossification;GO:0046850 regulation of bone remodeling", "synthesized_glycan_count": 0, "hit_score": 8.9, "record_id": "Q9UBS9-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P81877-1", "uniprot_id": [ { "id": "SSBP2_HUMAN", "url": "https://www.uniprot.org/uniprot/P81877", "type": "external" } ], "mass": 37828.0, "length": 361, "protein_name": "Single-stranded DNA-binding protein 2", "gene_name": "SSBP2", "organism": "Human", "refseq_name": "single-stranded DNA-binding protein 2 isoform 1", "refseq_ac": [ { "id": "NP_001243661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001243661", "type": "external" } ], "gene_names_uniprotkb": "SSBP2; SSDP2", "gene_names_refseq": "HSPC116; SOSS-B2; SSBP2", "protein_names_uniprotkb": "Single-stranded DNA-binding protein 2; Sequence-specific single-stranded-DNA-binding protein 2", "protein_names_refseq": "sequence-specific single-stranded-DNA-binding protein 2; single-stranded DNA-binding protein 2 isoform 1", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041)", "pathway": " (hsa:23635)", "pathway_count": 1, "publication_count": 56, "publication_id_list": "10931946;11230166;11237011;12079286;15782145;17311003;19651622;19690332;22299025;23186163;23481700;24714562;24715725;25418920;25576301;25645385;25892735;26154972;26375851;26992070;27543614;27862975;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29351928;29393594;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30379171;30524438;30833945;31154438;31217245;31844290;31848261;31882468;31892537;31937595;32357974;32387766;33197935;33298915;33392160;33912179;35051231", "class_list": "", "function": "CcRCC with low SSBP2 expression was associated with adverse clinicopathological characteristics and poor patient outcomes., [RefSeq, PubMed]; Member of a closely related, evolutionarily conserved, and ubiquitously expressed gene family, potential tumor suppressor, [RefSeq, PubMed]; Our findings are consistent with human SSBP2 being a novel regulator of hematopoietic growth and differentiation, whose loss confers a block in differentiation advantage to myeloid leukemic cells., [RefSeq, PubMed]; Results suggest that subverting SSBP2 function by oncoprotein E1B55K may contribute to cell transformation by viral oncoproteins., [RefSeq, PubMed]; SSBP2-CSF1R is a recurrent fusion in B-lineage acute lymphoblastic leukemia with diverse genetic presentation and variable outcome., [RefSeq, PubMed]; Single-stranded DNA binding proteins (SSBPs) interact specifically with the LDB/Chip conserved domain (LCCD) of LDB proteins and stabilize LDBs by preventing their proteasomal degradation, thus promoting their functions in gene regulation., [RefSeq, PubMed]; This gene encodes a subunit of a protein complex that interacts with single-stranded DNA and is involved in the DNA damage response and maintenance of genome stability. The encoded protein may also play a role in telomere repair. A variant of this gene may be associated with survival in human glioblastoma patients. [provided by RefSeq, Sep 2016]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 17, "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": "B2R5W1;B7Z1J2;B7Z2L9;B7Z665;D6RH18;E9PB74;E9PDA8;Q8N2Q2;Q9BWW6;Q9Y4T7", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003697 single-stranded DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm", "go_biological_process": "GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "P81877-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GUA7-1", "uniprot_id": [ { "id": "TEX51_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GUA7", "type": "external" } ], "mass": 18842.0, "length": 166, "protein_name": "Testis-expressed protein 51", "gene_name": "TEX51", "organism": "Human", "refseq_name": "testis-expressed protein 51 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001309173", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001309173", "type": "external" } ], "gene_names_uniprotkb": "TEX51", "gene_names_refseq": "TEX51", "protein_names_uniprotkb": "Testis-expressed protein 51", "protein_names_refseq": "testis-expressed protein 51 isoform 1 precursor; testis-expressed protein 51", "tax_id": 9606, "disease": "", "pathway": " (hsa:101929926)", "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": 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_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "A0A1B0GUA7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92599-1", "uniprot_id": [ { "id": "SEPT8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92599", "type": "external" } ], "mass": 55756.0, "length": 483, "protein_name": "Septin-8", "gene_name": "SEPTIN8", "organism": "Human", "refseq_name": "septin-8 isoform e", "refseq_ac": [ { "id": "NP_001287727", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287727", "type": "external" } ], "gene_names_uniprotkb": "SEPTIN8; KIAA0202; SEPT8", "gene_names_refseq": "SEP2; SEPT8; SEPTIN8; Septin-8", "protein_names_uniprotkb": "Septin-8", "protein_names_refseq": "septin-8 isoform e", "tax_id": 9606, "disease": "", "pathway": " (hsa:23176)", "pathway_count": 1, "publication_count": 75, "publication_id_list": "10704283;11237011;12023038;12098780;12475938;12909369;15116257;15915442;20068231;22645359;23186163;23301498;23481700;24397554;24714562;25418920;25505266;25576301;26154972;26375851;26728094;26811146;26992070;27084579;27846572;27862975;27920218;28063628;28218747;28228285;28649982;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30410026;30429286;31092671;31154438;31217245;31844290;31848261;32157095;32387766;32488085;32897882;32938616;32983136;33141586;33298915;33483609;33592498;33633747;33717175;33912179;33968037;34171305;34357683;35051231;35580925;36010968;36241641;36284347;37217939;37938771;38051778", "class_list": "", "function": "Filament-forming cytoskeletal GTPase (By similarity). May play a role in platelet secretion (PubMed:15116257). Seems to participate in the process of SNARE complex formation in synaptic vesicles (By similarity)., [UniProtKB, PubMed, UniProtKB]; Filament-forming cytoskeletal GTPase., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Palmitoylated Sept8-204 modulates learning and anxiety by regulating filopodia arborization and actin dynamics., [RefSeq, PubMed]; Sept8/SEPTIN8 involvement in cellular structure and kidney damage is identified by genetic mapping and a novel human tubule hypoxic model. Publication Status: Online-Only, [RefSeq, PubMed]; Stabilizes BACE1 protein levels and promotes the sorting and accumulation of BACE1 to the recycling or endosomal compartments, modulating the beta-amyloidogenic processing of APP., [UniProtKB, PubMed]; This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [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": 2, "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": "A6NC65;A6NKP6;F6W7K9;Q8IX36;Q8IX37;Q9BVB3", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0005940 septin ring;GO:0030424 axon;GO:0015630 microtubule cytoskeleton;GO:0030672 synaptic vesicle membrane;GO:0098793 presynapse", "go_biological_process": "GO:0035542 regulation of SNARE complex assembly;GO:0031647 regulation of protein stability;GO:0008104 intracellular protein localization;GO:0033157 regulation of intracellular protein transport;GO:0061640 cytoskeleton-dependent cytokinesis", "synthesized_glycan_count": 0, "hit_score": 7.8, "record_id": "Q92599-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJ98-1", "uniprot_id": [ { "id": "STAG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJ98", "type": "external" } ], "mass": 139034.0, "length": 1225, "protein_name": "Cohesin subunit SA-3", "gene_name": "STAG3", "organism": "Human", "refseq_name": "cohesin subunit SA-3 isoform 1", "refseq_ac": [ { "id": "NP_001269645", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269645", "type": "external" } ], "gene_names_uniprotkb": "STAG3", "gene_names_refseq": "SA3; SPGF61; STAG3", "protein_names_uniprotkb": "Cohesin subunit SA-3; SCC3 homolog 3; Stromal antigen 3; Stromalin-3", "protein_names_refseq": "SCC3 homolog 3; cohesin subunit SA-3 isoform 1; cohesin subunit SA-3; stromal antigen 3; stromalin-3", "tax_id": 9606, "disease": "primary ovarian insufficiency 8 (Disease Ontology:DOID:0080865); spermatogenic failure 61 (Disease Ontology:DOID:0112350)", "pathway": " (hsa:10734); (R-HSA-1221632)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10698974;11237011;11673449;12034751;15125634;15235794;18299561;18788457;19146767;19270026;20634189;22428046;24597867;24715725;25418920;25880248;26992070;27862975;28228285;28411811;28832583;28904123;29242379;29437277;29632711;29769354;29786170;30006057;30315122;30379171;31682730;31844290;32157095;32265295;32357974;32488085;32502341;32634216;32741963;32938616;33298915;33592498;33691108;33717175;33981976;34211107;34497033;34707299;34828315;35051231;35494241;35503298;35941537;36010968;36241641;37828232;8794855;9008167;9285814", "class_list": "", "function": "A Long Contiguous Stretch of Homozygosity Disclosed a Novel STAG3 Biallelic Pathogenic Variant Causing Primary Ovarian Insufficiency: A Case Report and Review of the Literature. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency., [RefSeq, PubMed]; Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate., [UniProtKB, UniProtKB]; Identified as one of five genes containing 11 somatic mutations in a panel that included 132 colorectal cancers, then demonstrated that down-regulation of such homologs resulted in chromosomal instability and chromatid cohesion defects in human cells, [RefSeq, PubMed]; METTL3/IGF2BP2 axis affects the progression of colorectal cancer by regulating m6A modification of STAG3. Publication Status: Online-Only, [RefSeq, PubMed]; Meiosis specific component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I., [UniProtKB, PubMed, UniProtKB, UniProtKB]; New STAG3 gene variant as a cause of premature ovarian insufficiency', trans 'Nueva variante del gen STAG3 causante de insuficiencia ovarica prematura Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator) Erratum:[Hum Mol Genet. 2009 Aug 1;18(15):2928. Maharaj, Aleksandra Gentry [corrected to Gentry-Maharaj, Aleksandra]], [RefSeq, PubMed]; Plays a role in regulation of transcription due to genetic imprinting, sister chromatid exchange, chromosome segregation and as an insulator element. (review) Review article, [RefSeq, PubMed]; The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014]., [RefSeq]; The upregulation of stromal antigen 3 expression suppresses the phenotypic hallmarks of hepatocellular carcinoma through the Smad3-CDK4/CDK6-cyclin D1 and CXCR4/RhoA pathways. 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": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 33, "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": "A6H8Z1;B4DZ10;D6W5U8;H7BYK9;Q8NDP3", "ec_number_list": [], "go_molecular_function": "GO:0003682 chromatin binding", "go_cellular_component": "GO:0030893 meiotic cohesin complex;GO:0005615 extracellular space;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005730 nucleolus", "go_biological_process": "GO:0007130 synaptonemal complex assembly;GO:0007062 sister chromatid cohesion;GO:0034089 establishment of meiotic sister chromatid cohesion;GO:0007059 chromosome segregation;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9UJ98-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q1ZZU3-1", "uniprot_id": [ { "id": "SWI5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q1ZZU3", "type": "external" } ], "mass": 26739.0, "length": 235, "protein_name": "DNA repair protein SWI5 homolog", "gene_name": "SWI5", "organism": "Human", "refseq_name": "DNA repair protein SWI5 homolog isoform 3", "refseq_ac": [ { "id": "NP_001305021", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305021", "type": "external" } ], "gene_names_uniprotkb": "SWI5; C9orf119; SAE3", "gene_names_refseq": "C9orf119; SAE3; SWI5", "protein_names_uniprotkb": "DNA repair protein SWI5 homolog; HBV DNAPTP1-transactivated protein A; Protein SAE3 homolog", "protein_names_refseq": "DNA repair protein SWI5 homolog isoform 3; DNA repair protein SWI5 homolog; HBV DNAPTP1-transactivated protein A; SWI5 recombination repair homolog; protein SAE3 homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:375757)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "11237011;21252223;23754376;26992070;27265469;27600516;27920218;28904123;31844290;32157095;32488085;34171305;35580925;37938771", "class_list": "", "function": "Component of the SWI5-SFR1 complex, a complex required for double-strand break repair via homologous recombination., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Component of the swi5-sfr1 complex, a complex required for double-strand break repair via homologous recombination., [UniProtKB, UniProtKB]; HBV DNAPTP1 downregulated the expression of SWI5 and CTC1 at translation level., [RefSeq, PubMed]; That human SWI5-MEI5 has an evolutionarily conserved function in homologous recombination 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": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5SYX7;Q5SYX8;Q8N2W6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0000228 nuclear chromosome;GO:0032798 Swi5-Sfr1 complex;GO:0005654 nucleoplasm", "go_biological_process": "GO:0000707 meiotic DNA recombinase assembly;GO:0000724 double-strand break repair via homologous recombination;GO:0071479 cellular response to ionizing radiation;GO:0007131 reciprocal meiotic recombination;GO:0006281 DNA repair", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q1ZZU3-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5K1-1", "uniprot_id": [ { "id": "SPO11_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5K1", "type": "external" } ], "mass": 44537.0, "length": 396, "protein_name": "Meiotic recombination protein SPO11", "gene_name": "SPO11", "organism": "Human", "refseq_name": "meiotic recombination protein SPO11 isoform a", "refseq_ac": [ { "id": "NP_036576", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036576", "type": "external" } ], "gene_names_uniprotkb": "SPO11", "gene_names_refseq": "CT35; SPATA43; SPO11; TOPOVIA; TOPVIA", "protein_names_uniprotkb": "Meiotic recombination protein SPO11; 5.6.2.2; CT35; Cancer/testis antigen 35", "protein_names_refseq": "SPO11 initiator of meiotic double stranded breaks; SPO11 meiotic protein covalently bound to DSB homolog; cancer/testis antigen 35; meiotic recombination protein SPO11 isoform a; meiotic recombination protein SPO11; spermatogenesis associated 43", "tax_id": 9606, "disease": "", "pathway": " (hsa:23626); (R-HSA-912446)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "10029069;10438626;10534401;10562567;10622720;10728666;10734115;10928988;11237011;11292842;15164066;15304223;16123081;16169419;16292313;16322221;17541404;17965729;17977839;17981954;18256600;18535008;20044539;20044541;20062530;20818382;28050928;29608566;32938616;33658710;38253038;40136647;8929543;9008167;9311981;9450758;9781043;9826763", "class_list": "", "function": "Centromeres are dismantled by foundational meiotic proteins Spo11 and Rec8., [RefSeq, PubMed]; DNA endonuclease, which specifically mediates DNA cleavage that forms the double-strand breaks (DSB) that initiate meiotic recombination. SPO11 covalently attaches itself to the 5' DNA strand during DSB formation and each strand is cleaved by a composite active site assembled at the interface of two SPO11 monomers, with the two cleavages staggered to produce a two-nucleotide 5' overhang. SPO11 cleavage site selection is driven by a mild sequence bias and a preference for bendable and underwound DNA. Together with TOP6BL, promotes relaxation of negative and positive supercoiled DNA and DNA decatenation through cleavage and ligation cycles. Required for the phosphorylation of SMC3, HORMAD1 and HORMAD2., [UniProtKB, UniProtKB]; Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. [provided by RefSeq, Jul 2008]., [RefSeq]; Mutations in the human SPO11 gene are not common causes of infertility in man GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SPO11 gene C631T polymorphism may contribute as a genetic factor susceptible to cause male infertility in Chinese., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q5TCI1;Q8N4V0;Q9NQM7;Q9NQM8", "ec_number_list": [ { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "5.6.2.2", "url": "https://www.rhea-db.org/rhea/?query=ec:5.6.2.2", "type": "external" } ], "go_molecular_function": "GO:0003918 DNA topoisomerase type II (double strand cut, ATP-hydrolyzing) activity;GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0000228 nuclear chromosome;GO:0000781 chromosome, telomeric region;GO:0005634 nucleus;GO:0005694 chromosome", "go_biological_process": "GO:0007283 spermatogenesis;GO:0042138 meiotic DNA double-strand break formation;GO:0000706 meiotic DNA double-strand break processing;GO:0007131 reciprocal meiotic recombination;GO:0007292 female gamete generation", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "Q9Y5K1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZRS2-1", "uniprot_id": [ { "id": "SRCAP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZRS2", "type": "external" } ], "mass": 343555.0, "length": 3230, "protein_name": "Chromatin remodeling protein SRCAP", "gene_name": "SRCAP", "organism": "Human", "refseq_name": "chromatin remodeling protein SRCAP", "refseq_ac": [ { "id": "NP_006653", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006653", "type": "external" } ], "gene_names_uniprotkb": "SRCAP; KIAA0309", "gene_names_refseq": "DEHMBA; DOMO1; FLHS; SRCAP; SWR1", "protein_names_uniprotkb": "Chromatin remodeling protein SRCAP; 3.6.4.-; Domino homolog 2; Snf2-related CBP activator", "protein_names_refseq": "Snf2-related CBP activator protein; Swi2/Snf2-related ATPase homolog, domino homolog 1; chromatin remodeling protein SRCAP; domino homolog 2; helicase SRCAP", "tax_id": 9606, "disease": "syndromic intellectual disability (Disease Ontology:DOID:0050888); developmental disorder of mental health (Disease Ontology:DOID:0060037); Floating-Harbor syndrome (Disease Ontology:DOID:0111358); developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities (MONDO:MONDO:0859202)", "pathway": " (hsa:10847)", "pathway_count": 1, "publication_count": 120, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10347196;10702287;11237011;11522779;11581372;14500758;14966270;15647280;16024792;16634648;17081983;17525332;17617668;18452278;18669648;19413330;19651622;19664995;20068230;20068231;22265015;23186163;23301498;23481700;23584533;24714562;24715725;25418920;25576301;25645385;25880248;26154972;26375851;26811146;26929215;26992070;27503676;27600516;27846572;27869121;27920218;28063628;28218747;28228285;28514659;28649982;28832583;28834231;28904123;29237092;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29786170;30059200;30315122;30337683;30379171;30429286;30524438;30620550;31154438;31492838;31844290;32157095;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32938750;32983136;33214551;33298915;33392160;33592498;33691108;33909990;33912179;33936100;33968037;34019948;34087483;34145229;34171305;34509645;34561969;34725712;34846842;34932366;35051231;35132862;35152838;35254053;35289036;35513511;35580925;36010968;36241641;37340703;37863054;38116086;38230957;38448605;38665916;38838015;39302247;39311760;39531497;39534244;39905328;40596516", "class_list": "", "function": "Acts both as a chromatin remodeler and transcription coregulator. Catalytic component of the SRCAP complex which mediates the ATP-dependent exchange of histone H2AZ/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes expression through chromatin remodeling (PubMed:16634648, PubMed:17617668). Acts as a coactivator for CREB-mediated transcription, steroid receptor-mediated transcription, and Notch-mediated transcription (PubMed:10347196, PubMed:11522779, PubMed:14500758, PubMed:16024792)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; LINC00665 sponges miR-641 to promote the progression of breast cancer by targeting the SNF2-related CREBBP activator protein (SRCAP)., [RefSeq, PubMed]; SRCAP mutations drive clonal hematopoiesis through epigenetic and DNA repair dysregulation. Erratum:[Cell Stem Cell. 2024 Feb 1;31(2):275-277. doi: 10.1016/j.stem.2024.01.001. PMID: 38306995], [RefSeq, PubMed]; Sanger sequencing identified mutations in SRCAP in eight more affected persons., [RefSeq, PubMed]; Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]., [RefSeq]; Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature., [RefSeq, PubMed]", "predicted_glycosites": 14, "predicted_n_glycosites": 0, "predicted_o_glycosites": 14, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_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": 34, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 34, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 34, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 26, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 119, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 4, "glyco_site_count": 49, "binding_glycan_count": 0, "secondary_ac_list": "B0JZA6;O15026;Q7Z744;Q9Y5L9", "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:0003713 transcription coactivator activity;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0048471 perinuclear region of cytoplasm;GO:0016604 nuclear body;GO:0000812 Swr1 complex", "go_biological_process": "GO:0006338 chromatin remodeling;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0006355 regulation of DNA-templated transcription;GO:0141156 cAMP/PKA signal transduction", "synthesized_glycan_count": 0, "hit_score": 16.0, "record_id": "Q6ZRS2-1", "record_type": "protein", "filter_code": "0000000.1000111.001000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NFT2-1", "uniprot_id": [ { "id": "STEA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NFT2", "type": "external" } ], "mass": 56056.0, "length": 490, "protein_name": "Metalloreductase STEAP2", "gene_name": "STEAP2", "organism": "Human", "refseq_name": "metalloreductase STEAP2 isoform a", "refseq_ac": [ { "id": "NP_001035755", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035755", "type": "external" } ], "gene_names_uniprotkb": "STEAP2; PCANAP1; PRO23203; STAMP1", "gene_names_refseq": "IPCA1; PCANAP1; PUMPCn; STAMP1; STEAP2; STMP", "protein_names_uniprotkb": "Metalloreductase STEAP2; 1.16.1.-; PUMPCn; Prostate cancer-associated protein 1; Protein up-regulated in metastatic prostate cancer; Six-transmembrane epithelial antigen of prostate 2; SixTransMembrane protein of prostate 1", "protein_names_refseq": "STEAP family member 2, metalloreductase; SixTransMembrane Protein of Prostate 1; metalloreductase STEAP2 isoform a; metalloreductase STEAP2; prostate cancer-associated protein 1; protein up-regulated in metastatic prostate cancer; protein upregulated in metastatic prostate cancer; six transmembrane epithelial antigen of the prostate 2; six-transmembrane epithelial antigen of prostate 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:261729)", "pathway_count": 1, "publication_count": 32, "publication_id_list": "11237011;12095985;12429817;12975309;15897894;16609065;18578522;23481700;24715725;28228285;28467828;28514659;29242379;29557506;30451992;31844290;32350084;32488085;32938616;33392160;33592498;33968037;34649092;34932366;35051231;35154160;35436987;35580925;36241641;36316642;38830975;38872435", "class_list": "", "function": "Cloning and characterization of STAMP1, which is expressed in both normal prostate and prostate neoplasms, [RefSeq, PubMed]; Expression of STAMP2, a gene highly similar to STAMP1 (STEAP2), in prostate cancer cells significantly increases cell growth and colony formation suggesting that STAMP2 may have a role in cell proliferation., [RefSeq, PubMed]; Integral membrane protein that functions as a NADPH-dependent ferric-chelate reductase, using NADPH from one side of the membrane to reduce a Fe(3+) chelate that is bound on the other side of the membrane (By similarity). Mediates sequential transmembrane electron transfer from NADPH to FAD and onto heme, and finally to the Fe(3+) chelate (By similarity). Can also reduce Cu(2+) to Cu(1+) (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; METTL3-mediated m6A modification of STEAP2 mRNA inhibits papillary thyroid cancer progress by blocking the Hedgehog signaling pathway and epithelial-to-mesenchymal transition. Publication Status: Online-Only, [RefSeq, PubMed]; Predictive potential of STEAP family for survival, immune microenvironment and therapy response in glioma., [RefSeq, PubMed]; STEAP2 is involved in the development of prostate cancer. As a cell-surface antigen, it is a potential diagnostic or therapeutic target in prostate cancer., [RefSeq, PubMed]; STEAP2 promotes hepatocellular carcinoma progression via increased copper levels and stress-activated MAP kinase activity. Publication Status: Online-Only, [RefSeq, PubMed]; STEAP2 promotes osteosarcoma progression by inducing epithelial-mesenchymal transition via the PI3K/AKT/mTOR signaling pathway and is regulated by EFEMP2., [RefSeq, PubMed]; This gene is a member of the STEAP family and encodes a multi-pass membrane protein that localizes to the Golgi complex, the plasma membrane, and the vesicular tubular structures in the cytosol. A highly similar protein in mouse has both ferrireductase and cupric reductase activity, and stimulates the cellular uptake of both iron and copper in vitro. Increased transcriptional expression of the human gene is associated with prostate cancer progression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]., [RefSeq]; Unveiling the role of copper metabolism and STEAP2 in idiopathic pulmonary fibrosis molecular landscape., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A4D1F1;G5E9C6;Q6UXN6;Q6YPB1;Q8IUE7", "ec_number_list": [ { "id": "1.16.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.-", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0008823 cupric reductase (NADH) activity;GO:0052851 ferric-chelate reductase (NADPH) activity;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005768 endosome;GO:0005769 early endosome;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006897 endocytosis;GO:0045055 regulated exocytosis;GO:0009725 response to hormone;GO:0015677 copper ion import;GO:0006826 iron ion transport", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q8NFT2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99985-1", "uniprot_id": [ { "id": "SEM3C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99985", "type": "external" } ], "mass": 85207.0, "length": 751, "protein_name": "Semaphorin-3C", "gene_name": "SEMA3C", "organism": "Human", "refseq_name": "semaphorin-3C isoform 2 precursor", "refseq_ac": [ { "id": "NP_006370", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006370", "type": "external" } ], "gene_names_uniprotkb": "SEMA3C; SEMAE", "gene_names_refseq": "SEMA3C; SEMAE; SemE", "protein_names_uniprotkb": "Semaphorin-3C; Sema E; Semaphorin-E", "protein_names_refseq": "sema E; sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C; semaphorin E; semaphorin-3C isoform 2 precursor", "tax_id": 9606, "disease": "rheumatoid arthritis (Disease Ontology:DOID:7148)", "pathway": " (hsa:10512)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10.1101/2023.09.13.557529;11237011;24190977;25576301;27600516;29557506;29741879;30429286;31844290;32157095;32938616;32983136;33968037;33981976;34019948;34087483;34171305;35051231;35289036;35561310;35580925;37074911;37080989;37217939;37800655;38528115;38956074;9405678", "class_list": "", "function": "Binds to plexin family members and plays an important role in the regulation of developmental processes. Required for normal cardiovascular development during embryogenesis. Functions as attractant for growing axons, and thereby plays an important role in axon growth and axon guidance (By similarity)., [UniProtKB]; Clinically-observed FOXA1 mutations upregulate SEMA3C through transcriptional derepression in prostate cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Sema3C signaling is an alternative activator of the canonical WNT pathway in glioblastoma. Erratum:[Nat Commun. 2023 Sep 27;14(1):6018. doi: 10.1038/s41467-023-41842-1. PMID: 37758699] Publication Status: Online-Only, [RefSeq, PubMed]; Semaphorin 3C (Sema3C) reshapes stromal microenvironment to promote hepatocellular carcinoma progression. Publication Status: Online-Only, [RefSeq, PubMed]; Semaphorin 3C promotes de novo steroidogenesis in prostate cancer cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017]., [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": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 38, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 1, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "B4DRL8", "ec_number_list": [], "go_molecular_function": "GO:0030215 semaphorin receptor binding;GO:0038191 neuropilin binding;GO:0045499 chemorepellent activity", "go_cellular_component": "GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0003350 pulmonary myocardium development;GO:0140074 cardiac endothelial to mesenchymal transition;GO:0006955 immune response;GO:0030335 positive regulation of cell migration;GO:0071526 semaphorin-plexin signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q99985-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95149-1", "uniprot_id": [ { "id": "SPN1_HUMAN", "url": "https://www.uniprot.org/uniprot/O95149", "type": "external" } ], "mass": 41143.0, "length": 360, "protein_name": "Snurportin-1", "gene_name": "SNUPN", "organism": "Human", "refseq_name": "snurportin-1", "refseq_ac": [ { "id": "NP_001036046", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001036046", "type": "external" } ], "gene_names_uniprotkb": "SNUPN; RNUT1; SPN1", "gene_names_refseq": "KPNBL; LGMDR29; RNUT1; SNUPN; Snurportin1", "protein_names_uniprotkb": "Snurportin-1; RNA U transporter 1", "protein_names_refseq": "RNA U transporter 1; snurportin-1", "tax_id": 9606, "disease": "autosomal recessive limb-girdle muscular dystrophy type 29 (Disease Ontology:DOID:0061134); autosomal recessive limb-girdle muscular dystrophy (Disease Ontology:DOID:0110274)", "pathway": " (hsa:10073); (R-HSA-191859)", "pathway_count": 2, "publication_count": 54, "publication_id_list": "10209022;10531003;10556282;10601333;10725331;10851237;11237011;11333016;11714716;11748230;12065586;12095920;12441251;12776181;15920472;16030253;18187419;18669648;19651622;20068231;20476751;21406692;23186163;24722547;25892735;26866982;27846572;27920218;28063628;28832583;28904123;29242379;29351928;29557506;29632046;29769354;30429286;31844290;32157095;32265295;32357974;32387766;33633747;33936100;34171305;36580660;37938771;38253038;38366623;38413582;40596516;8196654;9670026;9845364", "class_list": "", "function": "Analysis of interactions between CRM1 and the nuclear pore protein Tpr and snurportin Publication Status: Online-Only, [RefSeq, PubMed]; Functions as an U snRNP-specific nuclear import adapter. Involved in the trimethylguanosine (m3G)-cap-dependent nuclear import of U snRNPs. Binds specifically to the terminal m3G-cap U snRNAs., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Results show that marker rs218966 in gene PHF14 and rs9836027 in MAP4 significantly associated with hypertension; additionally, rare variants in SNUPN significantly associated with systolic blood pressure. Publication Status: Online-Only, [RefSeq, PubMed]; SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation. Publication Status: Online-Only, [RefSeq, PubMed]; SPN construct lacking the importin beta binding domain (IBB) localizes primarily to the nucleus rather than to the cytoplasm., [RefSeq, PubMed]; The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5'-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 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": 4, "reported_glycation": 0, "reported_snv": 11, "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": "A6NE34;A8K0B0;D3DW76", "ec_number_list": [], "go_molecular_function": "GO:0000339 RNA cap binding;GO:0061608 nuclear import signal receptor activity;GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005643 nuclear pore;GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0061015 snRNA import into nucleus;GO:0051259 protein complex oligomerization;GO:0051262 protein tetramerization;GO:0007010 cytoskeleton organization;GO:0006404 RNA import into nucleus", "synthesized_glycan_count": 0, "hit_score": 5.8, "record_id": "O95149-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHD8-1", "uniprot_id": [ { "id": "SEPT9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHD8", "type": "external" } ], "mass": 65401.0, "length": 586, "protein_name": "Septin-9", "gene_name": "SEPTIN9", "organism": "Human", "refseq_name": "septin-9 isoform a", "refseq_ac": [ { "id": "NP_001106963", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001106963", "type": "external" } ], "gene_names_uniprotkb": "SEPTIN9; KIAA0991; MSF; SEPT9", "gene_names_refseq": "AF17q25; MSF1; MSF; PNUTL4; SEPT9; SEPTIN9; SINT1; SeptD1", "protein_names_uniprotkb": "Septin-9; MLL septin-like fusion protein MSF-A; MLL septin-like fusion protein; Ov/Br septin; Ovarian/Breast septin; Septin D1", "protein_names_refseq": "MLL septin-like fusion protein MSF-A; Ov/Br septin; ovarian/breast septin; peanut-like 4; septin D1; septin-9 isoform a", "tax_id": 9606, "disease": "amyotrophic neuralgia (Disease Ontology:DOID:10383); brachial plexus neuritis (Disease Ontology:DOID:3689); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:10801)", "pathway_count": 1, "publication_count": 112, "publication_id_list": "10339604;10673329;10987277;11237011;11593400;15485874;15558029;15915442;16007136;16186812;16964243;17081983;17546647;17922164;18220336;18492087;18669648;18991276;19145258;19451530;19690332;20068231;21406692;21654843;23186163;23301498;24366607;24714562;24715725;25367160;25469497;25576301;25892735;26154972;26375851;26728094;26758079;26992070;27846572;27862975;28063628;28832583;28834231;28904123;29242379;29437277;29493099;29508533;29557506;29632046;29786170;30315122;30379171;30410026;30429286;30833945;31092671;31154438;31217245;31530632;31844290;31848261;31998317;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33043033;33214551;33298915;33465208;33537174;33592498;33691108;33717175;33912179;33936100;33968037;34019948;34087483;34171305;34229054;34561969;34725712;34932366;35051231;35132862;35154160;35254053;35318648;35513511;35561310;35580925;35705054;36010968;36241641;36284347;36581221;37217939;38665916;39097885;39237897;40307207;40596516;40914422", "class_list": "", "function": "Describes alternative splicing of this gene., [RefSeq, PubMed]; Diagnostic efficacy of SEPT9 and PAX5 gene methylation in gastrointestinal cancer and precancerous lesions. Publication Status: Online-Only, [RefSeq, PubMed]; Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri., [UniProtKB]; SEPT9: From pan-cancer to lung squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 0, "predicted_o_glycosites": 2, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 5, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 5, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 5, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "A8K2V3;B3KPM0;B4DTL9;B4E0N2;B4E274;B7Z654;Q96QF3;Q96QF4;Q96QF5;Q9HA04;Q9UG40;Q9Y5W4", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003924 GTPase activity;GO:0005525 GTP binding;GO:0045296 cadherin binding", "go_cellular_component": "GO:0005940 septin ring;GO:0005737 cytoplasm;GO:0005874 microtubule;GO:0005929 cilium;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0007010 cytoskeleton organization;GO:0008104 intracellular protein localization;GO:0061640 cytoskeleton-dependent cytokinesis;GO:1902857 positive regulation of non-motile cilium assembly;GO:0051301 cell division", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q9UHD8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q01892-1", "uniprot_id": [ { "id": "SPIB_HUMAN", "url": "https://www.uniprot.org/uniprot/Q01892", "type": "external" } ], "mass": 28819.0, "length": 262, "protein_name": "Transcription factor Spi-B", "gene_name": "SPIB", "organism": "Human", "refseq_name": "transcription factor Spi-B isoform 2", "refseq_ac": [ { "id": "NP_001230927", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230927", "type": "external" } ], "gene_names_uniprotkb": "SPIB", "gene_names_refseq": "SPI-B; SPIB", "protein_names_uniprotkb": "Transcription factor Spi-B", "protein_names_refseq": "Spi-B transcription factor (Spi-1/PU.1 related); transcription factor Spi-B isoform 2; transcription factor Spi-B", "tax_id": 9606, "disease": "", "pathway": " (hsa:6689)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "10196196;10618498;11237011;11841448;11864910;12393575;1406622;15583020;23481700;24397554;25469497;26811146;27920218;28218747;28228285;28514659;28832583;28904123;29393594;29437277;29557506;30192525;30315122;31154438;31844290;31998317;32157095;32357974;32387766;32502341;32983136;33141586;33298915;33691108;33717175;33912179;33936100;34509645;35580925;35831411;35969172;36400181;37452634;38622980;8632909;8670269", "class_list": "", "function": "Comprehensive pan-cancer analysis reveals the prognostic value and immunological role of SPIB., [RefSeq, PubMed]; IGSF10 inhibits the metastasis of lung adenocarcinoma via the Spi-B/Integrin-beta1 signaling pathway., [RefSeq, PubMed]; Integrated transcriptomic and regulatory network analyses uncovers the role of let-7b-5p, SPIB, and HLA-DPB1 in sepsis. Publication Status: Online-Only, [RefSeq, PubMed]; Peroxiredoxin2 regulates trophoblast proliferation and migration through SPIB-HDAC2 pathway., [RefSeq, PubMed]; SPIB Knockdown Inhibits the Immune Escape of Ovarian Cancer Cells by Reducing PD-L1 (CD274) Expression and Inactivating the JAK/STAT Pathway., [RefSeq, PubMed]; Sequence specific transcriptional activator which binds to the PU-box, a purine-rich DNA sequence (5'-GAGGAA-3') that can act as a lymphoid-specific enhancer. Promotes development of plasmacytoid dendritic cells (pDCs), also known as type 2 DC precursors (pre-DC2) or natural interferon (IFN)-producing cells. These cells have the capacity to produce large amounts of interferon and block viral replication. May be required for B-cell receptor (BCR) signaling, which is necessary for normal B-cell development and antigenic stimulation., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. Four 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": 9, "reported_mutagensis": 4, "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": "A8K9C9;B4DUG6;Q15359", "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:0005737 cytoplasm;GO:0000785 chromatin", "go_biological_process": "GO:0002327 immature B cell differentiation;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": 4.7, "record_id": "Q01892-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95859-1", "uniprot_id": [ { "id": "TSN12_HUMAN", "url": "https://www.uniprot.org/uniprot/O95859", "type": "external" } ], "mass": 35383.0, "length": 305, "protein_name": "Tetraspanin-12", "gene_name": "TSPAN12", "organism": "Human", "refseq_name": "tetraspanin-12 isoform 1", "refseq_ac": [ { "id": "NP_036470", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036470", "type": "external" } ], "gene_names_uniprotkb": "TSPAN12; NET2; PRO1568; TM4SF12", "gene_names_refseq": "EVR5; NET-2; NET2; TM4SF12; TSPAN12", "protein_names_uniprotkb": "Tetraspanin-12; Tetraspan NET-2; Transmembrane 4 superfamily member 12; Tspan-12", "protein_names_refseq": "tetraspan NET-2; tetraspanin-12 isoform 1; transmembrane 4 superfamily member 12; tspan-12", "tax_id": 9606, "disease": "exudative vitreoretinopathy (Disease Ontology:DOID:0050535); exudative vitreoretinopathy 5 (Disease Ontology:DOID:0111408)", "pathway": " (hsa:23554)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "10719184;11237011;12975309;19211836;19401682;19587294;20159111;20159112;22427576;28228285;28904123;31844290;36980859;37252707;37451565;38374407;38424652", "class_list": "", "function": "Five novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy., [RefSeq, PubMed]; Identification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy., [RefSeq, PubMed]; METTL3-mediated m[6]A modification of lncRNA TSPAN12 promotes metastasis of hepatocellular carcinoma through SENP1-depentent deSUMOylation of EIF3I., [RefSeq, PubMed]; Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy. Publication Status: Online-Only, [RefSeq, PubMed]; Novel Exon 7 Deletions in TSPAN12 in a Three-Generation FEVR Family: A Case Report and Literature Review. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate LEF/TCF-mediated transcriptional programs. Suprisingly, it only activates the norrin (NDP)-dependent activation of FZD4, while it does not activate the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1) (By similarity). Acts as a regulator of membrane proteinases such as ADAM10 and MMP14/MT1-MMP. Activates ADAM10-dependent cleavage activity of amyloid precursor protein (APP). Activates MMP14/MT1-MMP-dependent cleavage activity., [UniProtKB, PubMed, PubMed]; TSPAN12 serves as a novel and robust partner for ADAM10 and promotes ADAM10 maturation, thereby facilitating ADAM10-dependent proteolysis of APP., [RefSeq, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [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": 3, "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": "A4D0V8;B4DRG6;Q549U9;Q8N5Y0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0001525 angiogenesis;GO:0007166 cell surface receptor signaling pathway;GO:0010842 retina layer formation;GO:0045765 regulation of angiogenesis", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "O95859-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWL1-1", "uniprot_id": [ { "id": "SFPA2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWL1", "type": "external" } ], "mass": 26169.0, "length": 248, "protein_name": "Pulmonary surfactant-associated protein A2", "gene_name": "SFTPA2", "organism": "Human", "refseq_name": "pulmonary surfactant-associated protein A2 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001092138", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001092138", "type": "external" } ], "gene_names_uniprotkb": "SFTPA2; COLEC5; PSAP; SFTP1; SFTPA2B; SFTPA", "gene_names_refseq": "COLEC5; ILD2; PSAP; PSP-A; PSPA; SFTP1; SFTPA2B; SFTPA2; SP-2A; SP-A; SPA2; SPAII", "protein_names_uniprotkb": "Pulmonary surfactant-associated protein A2; 35 kDa pulmonary surfactant-associated protein; Alveolar proteinosis protein; Collectin-5; PSP-A; PSPA; SP-A2; SP-A", "protein_names_refseq": "35 kDa pulmonary surfactant-associated protein; alveolar proteinosis protein; collectin 5; pulmonary surfactant-associated protein A2 isoform 1 precursor; pulmonary surfactant-associated protein A2; surfactant, pulmonary-associated protein A2A", "tax_id": 9606, "disease": "interstitial lung disease 2 (Disease Ontology:DOID:0060971); newborn respiratory distress syndrome (Disease Ontology:DOID:12716); asthma (Disease Ontology:DOID:2841); congenital diaphragmatic hernia (Disease Ontology:DOID:3827); lung disease (Disease Ontology:DOID:850); bacterial pneumonia (Disease Ontology:DOID:874); obesity (Disease Ontology:DOID:9970)", "pathway": " (hsa:729238); (R-HSA-166016); (R-HSA-168179); (R-HSA-391160); (R-HSA-5683826); (R-HSA-5686938); (R-HSA-5687868); (R-HSA-5688849); (R-HSA-5688890)", "pathway_count": 9, "publication_count": 132, "publication_id_list": "10201950;10368295;10426996;10469599;10485905;10496952;10572074;10580105;10625644;11237011;11274165;11278984;11509636;11563989;11724772;12023008;12110890;12185598;12214235;12471095;12817025;12882447;1325798;1339284;1372511;1415726;14531999;14556004;15241424;15276183;15294972;15383453;15596121;1568474;15714590;15926889;16006481;16199866;16213021;16303959;1636732;16385451;16423266;16455995;16467847;16630564;16751103;16754682;16757566;16834340;16855214;16878026;16880211;17070842;17369261;17496061;17767165;18020944;18222170;18233961;18297073;18354232;18559343;18657508;18692472;18955570;1898081;18990700;19100526;19112167;19144824;1928448;19628875;19824815;20037584;20054143;20147294;20338813;20418254;20466729;20473308;20693318;21075760;21205713;21871094;22078883;22158869;22344226;22489132;23069847;23446148;23590306;23684610;23922714;2462607;24743970;2477488;24833748;2515193;25424900;25825441;2587265;25880347;2610270;26792177;27742543;2995821;3037072;31608988;32855221;33181027;3366248;34484180;34631;34917085;3537192;35874703;3755136;37888536;3801783;40596516;7597036;7685021;8314870;8428971;8522976;8527267;8636114;9062191;9665271;9813380;9813381", "class_list": "glycogene", "function": "Association of surfactant protein A2 with acute respiratory failure in children., [RefSeq, PubMed]; Differential Regulation of Human Surfactant Protein A Genes, SFTPA1 and SFTPA2, and Their Corresponding Variants. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Human Surfactant Protein SP-A1 and SP-A2 Variants Differentially Affect the Alveolar Microenvironment, Surfactant Structure, Regulation and Function of the Alveolar Macrophage, and Animal and Human Survival Under Various Conditions. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Identification of a Missense Mutation in the Surfactant Protein A2 Gene in a Chinese Family with Interstitial Lung Disease., [RefSeq, PubMed]; In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration., [UniProtKB]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Small Peptide Derivatives Within the Carbohydrate Recognition Domain of SP-A2 Modulate Asthma Outcomes in Mouse Models and Human Cells. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is one of several genes encoding pulmonary-surfactant associated proteins (SFTPA) located on chromosome 10. Mutations in this gene and a highly similar gene located nearby, which affect the highly conserved carbohydrate recognition domain, are associated with idiopathic pulmonary fibrosis. The current version of the assembly displays only a single centromeric SFTPA gene pair rather than the two gene pairs shown in the previous assembly which were thought to have resulted from a duplication. [provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 391, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4QPA7;B2RXI6;B2RXK9;C9J9I7;E3VLC6;E3VLC7;E3VLC8;E3VLC9;P07714;Q14DV3;Q5RIR8;Q5RIR9", "ec_number_list": [], "go_molecular_function": "GO:0030246 carbohydrate binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0005789 endoplasmic reticulum membrane;GO:0045334 clathrin-coated endocytic vesicle;GO:0005771 multivesicular body", "go_biological_process": "GO:0007585 respiratory gaseous exchange by respiratory system", "synthesized_glycan_count": 0, "hit_score": 13.5, "record_id": "Q8IWL1-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000011000.001.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UGU0-1", "uniprot_id": [ { "id": "TCF20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UGU0", "type": "external" } ], "mass": 211771.0, "length": 1960, "protein_name": "Transcription factor 20", "gene_name": "TCF20", "organism": "Human", "refseq_name": "transcription factor 20 isoform 1", "refseq_ac": [ { "id": "NP_005641", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005641", "type": "external" } ], "gene_names_uniprotkb": "TCF20; KIAA0292; SPBP", "gene_names_refseq": "AR1; DDVIBA; SPBP; TCF-20; TCF20", "protein_names_uniprotkb": "Transcription factor 20; Nuclear factor SPBP; Protein AR1; SPRE-binding protein; Stromelysin-1 PDGF-responsive element-binding protein; TCF-20", "protein_names_refseq": "SPRE-binding protein; nuclear factor SPBP; stromelysin-1 PDGF-responsive element-binding protein; stromelysin-1 platelet-derived growth factor-responsive element binding protein; transcription factor 20 isoform 1", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); Phelan-McDermid syndrome (Disease Ontology:DOID:0080354); developmental delay with variable intellectual impairment and behavioral abnormalities (MONDO:MONDO:0032745)", "pathway": " (hsa:6942)", "pathway_count": 1, "publication_count": 110, "publication_id_list": "10995766;11237011;15302935;15592455;17081983;17322306;17525332;18212344;18452278;18477386;18669648;19007248;19413330;19651622;19664995;19690332;19691289;20058876;20068231;21406692;23186163;23481700;24129315;24714562;25114211;25218447;25228304;25576301;25645385;25755297;25772364;25880248;26154972;26375851;26992070;27114449;27436265;27600516;27846572;27920218;28063628;28411811;28649982;28832583;28834231;28904123;29237092;29242379;29351928;29393594;29493099;29508533;29557506;29632046;29769354;29789417;30059200;30315122;30379171;30429286;30739909;30779550;30819258;30833945;31154438;31217245;31492838;31844290;31848261;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32574038;32897882;32938616;32983136;33214551;33298915;33592498;33912179;33968037;33981976;34019948;34171305;34357683;34846842;34904221;35051231;35132862;35254053;35289036;35513511;35580925;36010968;36284347;36593604;37340703;37541260;38665916;39060884;39302247;39531497;39534244;9179496;9730594", "class_list": "", "function": "Association Between CYP2D7 and TCF20 Polymorphisms and Coronary Heart Disease., [RefSeq, PubMed]; Diagnosis and clinical presentation of two individuals with a rare TCF20 pathogenic variant. Publication Status: Online-Only, [RefSeq, PubMed]; Mutations in TCF20 are associated with Autism spectrum disorders, [RefSeq, PubMed]; Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder., [RefSeq, PubMed]; TCF20 pathogenic variants are associated with a novel syndrome manifesting clinical characteristics similar to those observed in Smith-Magenis syndrome. Erratum:[Genome Med. 2019 Mar 25;11(1):16. doi: 10.1186/s13073-019-0630-1. PMID: 30909959] Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]., [RefSeq]; Transcriptional activator that binds to the regulatory region of MMP3 and thereby controls stromelysin expression. It stimulates the activity of various transcriptional activators such as JUN, SP1, PAX6 and ETS1, suggesting a function as a coactivator., [UniProtKB, PubMed]; We provide valuable data regarding the prognosis and clinical manifestations of patients with variants in TCF20., [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": 27, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 27, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 27, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 44, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 82, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 28, "binding_glycan_count": 0, "secondary_ac_list": "A9JX12;O14528;Q13078;Q4V353;Q9H4M0", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003713 transcription coactivator activity;GO:0003723 RNA binding;GO:0008270 zinc ion binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016604 nuclear body", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "Q9UGU0-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2G9-1", "uniprot_id": [ { "id": "SBNO2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2G9", "type": "external" } ], "mass": 150275.0, "length": 1366, "protein_name": "Protein strawberry notch homolog 2", "gene_name": "SBNO2", "organism": "Human", "refseq_name": "protein strawberry notch homolog 2 isoform 2", "refseq_ac": [ { "id": "NP_001093592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093592", "type": "external" } ], "gene_names_uniprotkb": "SBNO2; KIAA0963", "gene_names_refseq": "KIAA0963; SBNO2; SNO; STNO", "protein_names_uniprotkb": "Protein strawberry notch homolog 2", "protein_names_refseq": "protein strawberry notch homolog 2 isoform 2; protein strawberry notch homolog 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:22904)", "pathway_count": 1, "publication_count": 65, "publication_id_list": "11237011;18025162;19068216;19760754;19913121;20068231;20628086;23481700;24714562;25505266;25576301;25645385;25903009;26154972;26811146;26992070;27846572;27920218;28063628;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30524438;30779550;31217245;31844290;32157095;32357974;32387766;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33691108;33912179;33968037;33981976;34087483;34171305;34561969;35051231;35561310;35580925;36010968;36241641;36284347;36630607;36695974", "class_list": "", "function": "Acts as a transcriptional coregulator, that can have both coactivator and corepressor functions. Inhibits the DCSTAMP-repressive activity of TAL1, hence enhancing the access of the transcription factor MITF to the DC-STAMP promoter in osteoclast. Plays a role in bone homeostasis; required as a positive regulator in TNFSF11//RANKL-mediated osteoclast fusion via a DCSTAMP-dependent pathway. May also be required in the regulation of osteoblast differentiation (By similarity). Involved in the transcriptional corepression of NF-kappaB in macrophages (PubMed:18025162). Plays a role as a regulator in the pro-inflammatory cascade (PubMed:18025162)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed, PubMed, PubMed]; SBNO2 is a critical mediator of STAT3-driven hematological malignancies., [RefSeq, PubMed]; Study of Strawberry Notch homolog 1 and 2 expression in human glioblastoma., [RefSeq, PubMed]; The SBNO2 is component of the pathways that contribute to the downstream anti-inflammatory effects of IL-10. Erratum:[J Immunol. 2008 Mar 1;180(5):3612. Panopolous, Athanasia [corrected to Panopoulos, Athanasia D]], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 8, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K8P2;B3KWJ1;O75257;Q3KQX0;Q8TEM0", "ec_number_list": [], "go_molecular_function": "GO:0031490 chromatin DNA binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0030316 osteoclast differentiation;GO:0071348 cellular response to interleukin-11;GO:0006351 DNA-templated transcription;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0045892 negative regulation of DNA-templated transcription", "synthesized_glycan_count": 0, "hit_score": 6.6, "record_id": "Q9Y2G9-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IYM2-1", "uniprot_id": [ { "id": "SLN12_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IYM2", "type": "external" } ], "mass": 66972.0, "length": 578, "protein_name": "Ribonuclease SLFN12", "gene_name": "SLFN12", "organism": "Human", "refseq_name": "ribonuclease SLFN12", "refseq_ac": [ { "id": "NP_001275938", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001275938", "type": "external" } ], "gene_names_uniprotkb": "SLFN12", "gene_names_refseq": "SLFN12; SLFN3", "protein_names_uniprotkb": "Ribonuclease SLFN12; 3.1.-.-; Schlafen family member 12", "protein_names_refseq": "ribonuclease SLFN12", "tax_id": 9606, "disease": "", "pathway": " (hsa:55106)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "11237011;20058876;24768141;25576301;27920218;28834231;29107068;29557506;30045019;30429286;30875077;31154438;31420216;31838790;31848261;31998317;32157095;32938616;32983136;33091337;33968037;34272366;34707099;35104454;35580925;37165099", "class_list": "", "function": "Ad-SLFN12 overexpression increased the ratio of the mature E-cadherin protein to its precursor protein, [RefSeq, PubMed]; Ribonuclease which is part of an E2/17beta-estradiol-induced pro-apoptotic signaling pathway. E2 stabilizes the PDE3A/SLFN12 complex in the cytosol, promoting the dephosphorylation of SLFN12 and activating its pro-apoptotic ribosomal RNA/rRNA ribonuclease activity. This apoptotic pathway might be relevant in tissues with high concentration of E2 and be for instance involved in placenta remodeling (PubMed:31420216, PubMed:34272366, PubMed:34707099, PubMed:35104454). May play a role in cell differentiation (PubMed:30045019)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; SLFN12 overexpression reduced MDA-MB-231 mammosphere formation. SLFN12 overexpression decreased ZEB1 and Slug protein despite increased ZEB1 and Slug mRNA . SLFN12 knockdown increased ZEB1 protein. Co-expressing ZEB1 attenuated the SLFN12 effect on E-cadherin mRNA and proliferation., [RefSeq, PubMed]; SLFN12 regulates human enterocytic differentiation by a pathway involving SERPB12, the deubiquitylases, and Cdx2., [RefSeq, PubMed]; Schlafen 12 (SLFN12) is a cytosolic protein that stimulates sucrase-isomaltase (SI) expression., [RefSeq, PubMed]; Schlafen 12 restricts HIV-1 latency reversal by a codon-usage dependent post-transcriptional block in CD4+ T cells. Publication Status: Online-Only, [RefSeq, PubMed]; Structure of PDE3A-SLFN12 complex reveals requirements for activation of SLFN12 RNase. Publication Status: Online-Only, [RefSeq, PubMed]; Vulnerability to antineoplastic phosphodiesterase inhibitors inhibitors has been associated with co-expression of PDE3A and SLFN12 in various tumor types., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 8, "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": "A8K711;Q9NP47", "ec_number_list": [], "go_molecular_function": "GO:0016787 hydrolase activity;GO:0004540 RNA nuclease activity;GO:0043022 ribosome binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005829 cytosol", "go_biological_process": "GO:0097190 apoptotic signaling pathway;GO:0016075 rRNA catabolic process", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "Q8IYM2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0V9-1", "uniprot_id": [ { "id": "SEP10_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0V9", "type": "external" } ], "mass": 52593.0, "length": 454, "protein_name": "Septin-10", "gene_name": "SEPTIN10", "organism": "Human", "refseq_name": "septin-10 isoform 3", "refseq_ac": [ { "id": "NP_001308425", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001308425", "type": "external" } ], "gene_names_uniprotkb": "SEPTIN10; SEPT10", "gene_names_refseq": "SEPT10; SEPTIN10; Septin-10", "protein_names_uniprotkb": "Septin-10", "protein_names_refseq": "septin-10 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:151011)", "pathway_count": 1, "publication_count": 51, "publication_id_list": "11237011;12711328;15915442;17657217;18077418;18669648;22320903;23481700;24714562;25469497;25576301;26154972;26992070;27846572;27862975;28352266;28904123;29557506;30315122;30429286;30779550;31154438;31217245;31844290;31848261;32157095;32161166;32502341;32938616;32983136;33214551;33298915;33537174;33592498;33633747;33717175;33912179;33968037;33981976;34019948;34087483;34561969;34725712;35051231;35580925;36010968;36241641;36284347;36802303;36950992;38242197", "class_list": "", "function": "Cloning and functional characterization of septin 10., [RefSeq, PubMed]; Exosomal circCLIP1 regulates PM2.5-induced airway obstruction via targeting SEPT10 in vitro., [RefSeq, PubMed]; Filament-forming cytoskeletal GTPase., [UniProtKB, UniProtKB, UniProtKB]; Filament-forming cytoskeletal GTPase. May play a role in cytokinesis (Potential)., [UniProtKB]; Lack of SEPT10 transcript is associated with B-cell chronic lymphocytic leukemia, [RefSeq, PubMed]; MiR-124-3p regulates the proliferation and differentiation of retinal progenitor cells through SEPT10., [RefSeq, PubMed]; SEPTIN10-mediated crosstalk between cytoskeletal networks controls mechanotransduction and oncogenic YAP/TAZ signaling., [RefSeq, PubMed]; This gene encodes a member of the septin family of cytoskeletal proteins with GTPase activity. This protein localizes to the cytoplasm and nucleus and displays GTP-binding and GTPase activity. A pseudogene for this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]., [RefSeq]; We found that paclitaxel-resistant tumors had decreased expression of SEPT10., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B3KRQ9;Q86VP5;Q9HAH6", "ec_number_list": [], "go_molecular_function": "GO:0060090 molecular adaptor activity;GO:0003924 GTPase activity;GO:0005525 GTP binding", "go_cellular_component": "GO:0097227 sperm annulus;GO:0005940 septin ring;GO:0015629 actin cytoskeleton;GO:0015630 microtubule cytoskeleton;GO:0031105 septin complex", "go_biological_process": "GO:0008104 intracellular protein localization;GO:0061640 cytoskeleton-dependent cytokinesis", "synthesized_glycan_count": 0, "hit_score": 5.4, "record_id": "Q9P0V9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92994-1", "uniprot_id": [ { "id": "TF3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92994", "type": "external" } ], "mass": 73840.0, "length": 677, "protein_name": "Transcription factor IIIB 90 kDa subunit", "gene_name": "BRF1", "organism": "Human", "refseq_name": "transcription factor IIIB 90 kDa subunit isoform 4", "refseq_ac": [ { "id": "NP_001229715", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229715", "type": "external" } ], "gene_names_uniprotkb": "BRF1; BRF; GTF3B; TAF3B2; TAF3C", "gene_names_refseq": "BRF-1; BRF1; BRF; CFDS; GTF3B; HEL-S-76p; TAF3B2; TAF3C; TAFIII90; TF3B90; TFIIIB90; hBRF", "protein_names_uniprotkb": "Transcription factor IIIB 90 kDa subunit; B-related factor 1; BRF-1; TAF3B2; TATA box-binding protein-associated factor, RNA polymerase III, subunit 2; TFIIIB90; hBRF; hTFIIIB90", "protein_names_refseq": "B - related factor 1; BRF1 RNA polymerase III transcription initiation factor subunit; BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB; BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit; TATA box binding protein (TBP)-associated factor 3C; TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2; TBP - associated factor, RNA polymerase III, 90kD; epididymis secretory sperm binding protein Li 76p; general transcription factor IIIB, 90kD subunit; transcription factor IIIB 90 kDa subunit isoform 4; transcription factor IIIB 90 kDa subunit", "tax_id": 9606, "disease": "fibroma (Disease Ontology:DOID:0050871); cerebellofaciodental syndrome (Disease Ontology:DOID:0080898); colorectal cancer (Disease Ontology:DOID:9256)", "pathway": " (hsa:2972); (R-HSA-749476); (R-HSA-76061); (R-HSA-76066)", "pathway_count": 4, "publication_count": 85, "publication_id_list": "10921893;11237011;11419933;12381659;14592981;16959974;17081983;17525332;18377933;18669648;1946469;19690332;22281053;23186163;23481700;2404611;24275569;24714562;24715725;25561519;25576301;25645385;26154972;26992070;27600516;28228285;28832583;28834231;28904123;29242379;29493099;29508533;29557506;29786170;30315122;30379171;30429286;30524438;31154438;31217245;31222486;31844290;31848261;31937595;32157095;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33717175;33912179;33925358;33936100;33968037;33981976;34087483;34171305;34405274;34509645;34928935;34932366;34935685;35051231;35580925;35925837;36010968;36215666;36241641;37938771;7568218;7624363;7995525;8407894;8423814;8943358;9171375;9312031", "class_list": "", "function": "A novel BRF1 mutation in two middle-aged siblings with cerebellofaciodental syndrome. Publication Status: Online-Only, [RefSeq, PubMed]; Comprehensive Analysis of Prognostic and Genetic Signatures for General Transcription Factor III (GTF3) in Clinical Colorectal Cancer Patients Using Bioinformatics Approaches. Publication Status: Online-Only, [RefSeq, PubMed]; General activator of RNA polymerase which utilizes different TFIIIB complexes at structurally distinct promoters. The isoform 1 is involved in the transcription of tRNA, adenovirus VA1, 7SL and 5S RNA. Isoform 2 is required for transcription of the U6 promoter., [UniProtKB]; TFIIB-related factor 1 is a nucleolar protein that promotes RNA polymerase I-directed transcription and tumour cell growth., [RefSeq, PubMed]; TRNA biogenesis and specific aminoacyl-tRNA synthetases regulate senescence stability under the control of mTOR. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "reported_mutagensis": 0, "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": "B3KU36;B4DIG5;B7Z2N3;F5H5Z7;F8WA46;Q13223;Q3SYD9;Q5PR24;Q6IQ02;Q96KX3;Q9HCW6;Q9HCW7;Q9HCW8", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion binding;GO:0017025 TBP-class protein binding;GO:0001006 RNA polymerase III type 3 promoter sequence-specific DNA binding;GO:0000995 RNA polymerase III general transcription initiation factor activity", "go_cellular_component": "GO:0097550 transcription preinitiation complex;GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000126 transcription factor TFIIIB complex", "go_biological_process": "GO:0009304 tRNA transcription;GO:0009303 rRNA transcription;GO:0006383 transcription by RNA polymerase III;GO:0006352 DNA-templated transcription initiation;GO:0006384 transcription initiation at RNA polymerase III promoter", "synthesized_glycan_count": 0, "hit_score": 8.8, "record_id": "Q92994-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99973-1", "uniprot_id": [ { "id": "TEP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99973", "type": "external" } ], "mass": 290490.0, "length": 2627, "protein_name": "Telomerase protein component 1", "gene_name": "TEP1", "organism": "Human", "refseq_name": "telomerase protein component 1 isoform 1", "refseq_ac": [ { "id": "NP_009041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009041", "type": "external" } ], "gene_names_uniprotkb": "TEP1; TLP1; TP1", "gene_names_refseq": "TEP1; TLP1; TP1; TROVE1; VAULT2; p240", "protein_names_uniprotkb": "Telomerase protein component 1; Telomerase protein 1; Telomerase-associated protein 1; p240; p80 telomerase homolog", "protein_names_refseq": "TROVE domain family, member 1; p80 telomerase homolog; telomerase protein 1; telomerase protein component 1 isoform 1; telomerase protein component 1", "tax_id": 9606, "disease": "stomach cancer (Disease Ontology:DOID:10534); intrahepatic cholangiocarcinoma (Disease Ontology:DOID:4928); hepatocellular carcinoma (Disease Ontology:DOID:684)", "pathway": " (hsa:7011)", "pathway_count": 1, "publication_count": 81, "publication_id_list": "10551828;11029039;11237011;18491316;19179534;23481700;24715725;25418920;25505266;25576301;25589627;25645385;25880248;25892735;26154972;26375851;26758079;26768311;26811146;26992070;27600516;27846572;27862975;28228285;28832583;28904123;29242379;29437277;29493099;29508533;29557506;29632711;29786170;30315122;30410026;30429286;31154438;31611695;31844290;31848261;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32584784;32897882;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33912179;33936100;33968037;34171305;34185709;34211107;34357683;34509645;34543729;34829999;34932366;35051231;35254053;35318648;35561310;35580925;36010968;36241641;36284347;38253038;39531497;9020079;9389643", "class_list": "", "function": "Component of the telomerase ribonucleoprotein complex that is essential for the replication of chromosome termini. Also a component of the ribonucleoprotein vaults particle, a multi-subunit structure involved in nucleo-cytoplasmic transport. Responsible for the localizing and stabilizing vault RNA (vRNA) association in the vault ribonucleoprotein particle. Binds to TERC., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, UniProtKB]; Hsa_circ_0004018 suppresses the progression of liver fibrosis through regulating the hsa-miR-660-3p/TEP1 axis. Erratum:[Aging (Albany NY). 2021 Jun 15;13(11):15690. doi: 10.18632/aging.203218. PMID: 34129523], [RefSeq, PubMed]; MVP Expression Facilitates Tumor Cell Proliferation and Migration Supporting the Metastasis of Colorectal Cancer Cells. Publication Status: Online-Only, [RefSeq, PubMed]; TEP1 is a risk gene for sporadic cerebral palsy., [RefSeq, PubMed]; This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 4, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 4, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 4, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 63, "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": "A0AUV9", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0019899 enzyme binding;GO:0002039 p53 binding;GO:0003720 telomerase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0016363 nuclear matrix;GO:1990904 ribonucleoprotein complex;GO:0005697 telomerase holoenzyme complex;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0015031 protein transport;GO:0000722 telomere maintenance via recombination;GO:0006259 DNA metabolic process", "synthesized_glycan_count": 0, "hit_score": 8.7, "record_id": "Q99973-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23327-1", "uniprot_id": [ { "id": "SRCH_HUMAN", "url": "https://www.uniprot.org/uniprot/P23327", "type": "external" } ], "mass": 80244.0, "length": 699, "protein_name": "Sarcoplasmic reticulum histidine-rich calcium-binding protein", "gene_name": "HRC", "organism": "Human", "refseq_name": "sarcoplasmic reticulum histidine-rich calcium-binding protein precursor", "refseq_ac": [ { "id": "NP_002143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002143", "type": "external" } ], "gene_names_uniprotkb": "HRC; HCP", "gene_names_refseq": "HRC", "protein_names_uniprotkb": "Sarcoplasmic reticulum histidine-rich calcium-binding protein", "protein_names_refseq": "sarcoplasmic reticulum histidine-rich calcium-binding protein precursor; sarcoplasmic reticulum histidine-rich calcium-binding protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:3270); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 3, "publication_count": 75, "publication_id_list": "10.1038/emboj.2013.79;10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12241545;12379487;12466191;12810533;12904166;1370451;1383255;15126567;15308688;15469690;15485880;15525596;15642270;17047378;17249697;17312271;17985932;20187088;2037293;23584533;24275569;2476804;2479552;26091039;28784772;30459171;30840693;31611695;32350084;34400882;35251023;37074911;37958923;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "HRC promotes anoikis resistance and metastasis by suppressing endoplasmic reticulum stress in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Histidine-rich Ca-binding protein (HRC) was phosphorylated by family with sequence similarity 20C (Fam20C) both in vitro and in vivo., [RefSeq, PubMed]; Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies. Publication Status: Online-Only, [RefSeq, PubMed]; May play a role in the regulation of calcium sequestration or release in the SR of skeletal and cardiac muscle., [UniProtKB]; Ser96Ala genetic variant of the human histidine-rich calcium-binding protein is associated with recurrence in paroxysmal atrial fibrillation. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR. [provided by RefSeq, Sep 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 9, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 22, "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": "Q504Y6", "ec_number_list": [], "go_molecular_function": "GO:0051117 ATPase binding;GO:0044325 transmembrane transporter binding;GO:0005509 calcium ion binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005788 endoplasmic reticulum lumen;GO:0030018 Z disc;GO:0033018 sarcoplasmic reticulum lumen", "go_biological_process": "GO:0006936 muscle contraction;GO:0051480 regulation of cytosolic calcium ion concentration;GO:0010460 positive regulation of heart rate;GO:0010880 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;GO:0002027 regulation of heart rate", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "P23327-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y289-1", "uniprot_id": [ { "id": "SC5A6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y289", "type": "external" } ], "mass": 68642.0, "length": 635, "protein_name": "Sodium-dependent multivitamin transporter", "gene_name": "SLC5A6", "organism": "Human", "refseq_name": "sodium-dependent multivitamin transporter", "refseq_ac": [ { "id": "NP_066918", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_066918", "type": "external" } ], "gene_names_uniprotkb": "SLC5A6; SMVT", "gene_names_refseq": "COMNB; NERIB; SLC5A6; SMVTD; SMVT; hSMVT", "protein_names_uniprotkb": "Sodium-dependent multivitamin transporter; Na(+)-dependent multivitamin transporter; Solute carrier family 5 member 6; hSMVT", "protein_names_refseq": "Na(+)-dependent multivitamin transporter; Na+-dependent multivitamin transporter; sodium-dependent multivitamin transporter; solute carrier family 5 (sodium-dependent vitamin transporter), member 6; solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6", "tax_id": 9606, "disease": "vitamin metabolic disorder (Disease Ontology:DOID:0050718); neurodegeneration, infantile-onset, biotin-responsive (MONDO:MONDO:0033546); peripheral motor neuropathy, childhood-onset, biotin-responsive (MONDO:MONDO:0859255)", "pathway": " (hsa:8884); (R-HSA-196780); (R-HSA-199220); (R-HSA-425397)", "pathway_count": 4, "publication_count": 95, "publication_id_list": "10064314;10329687;10334869;10567687;10677481;11158296;11237011;12646417;12757929;12815048;14766011;15561972;16134170;16150625;17242360;18297087;19061983;19211916;19429682;20153287;20980265;21183659;21570947;22015582;22123817;25576301;25645385;25809983;25880248;25971966;26375851;26992070;27322068;27893789;27904971;28052864;28228285;28467828;28514659;2868710;28832583;28904123;29242379;29314611;29393594;29557506;29632046;29786170;30315122;30429286;30484775;30573663;31004344;31154438;31754459;31844290;31848261;31894266;32234503;32350084;32357974;32488085;32938616;33298915;33537174;33592498;33691108;33912179;33936100;33968037;34087483;34171305;34211107;34357683;34725712;35013551;35051231;35154160;35251023;35561310;36010968;36241641;36983025;37391029;37938771;38012394;38036278;6883721;7509806;7732023;8930409;8934567;9096318;9516450;9630604", "class_list": "", "function": "A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up., [RefSeq, PubMed]; Integrated profiling identifies SLC5A6 and MFAP2 as novel diagnostic and prognostic biomarkers in gastric cancer patients., [RefSeq, PubMed]; Novel SLC5A6 mutations lead to B lymphocyte maturation defects with metabolic abnormality rescuable by biotin replenishment., [RefSeq, PubMed]; Novel biallelic variants expand the SLC5A6-related phenotypic spectrum., [RefSeq, PubMed]; Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders., [RefSeq, PubMed]; Sodium-dependent multivitamin transporter that mediates the electrogenic transport of pantothenate, biotin, lipoate and iodide (PubMed:10329687, PubMed:15561972, PubMed:19211916, PubMed:20980265, PubMed:21570947, PubMed:22015582, PubMed:25809983, PubMed:25971966, PubMed:27904971, PubMed:28052864, PubMed:31754459). Functions as a Na(+)-coupled substrate symporter where the stoichiometry of Na(+):substrate is 2:1, creating an electrochemical Na(+) gradient used as driving force for substrate uptake (PubMed:10329687, PubMed:20980265). Required for biotin and pantothenate uptake in the intestine across the brush border membrane (PubMed:19211916). Plays a role in the maintenance of intestinal mucosa integrity, by providing the gut mucosa with biotin (By similarity). Contributes to the luminal uptake of biotin and pantothenate into the brain across the blood-brain barrier (PubMed:25809983)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 37, "reported_glycation": 0, "reported_snv": 21, "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": "B2RB85;D6W549;Q969Y5", "ec_number_list": [], "go_molecular_function": "GO:0008523 sodium-dependent multivitamin transmembrane transporter activity;GO:0090482 vitamin transmembrane transporter activity;GO:0015111 iodide transmembrane transporter activity;GO:0015225 biotin transmembrane transporter activity;GO:0015233 pantothenate transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0016323 basolateral plasma membrane;GO:0016324 apical plasma membrane;GO:0031526 brush border membrane", "go_biological_process": "GO:0015878 biotin transport;GO:0015887 pantothenate transmembrane transport;GO:0006768 biotin metabolic process;GO:0006814 sodium ion transport;GO:0150104 transport across blood-brain barrier", "synthesized_glycan_count": 0, "hit_score": 10.0, "record_id": "Q9Y289-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IWU6-1", "uniprot_id": [ { "id": "SULF1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IWU6", "type": "external" } ], "mass": 101027.0, "length": 871, "protein_name": "Extracellular sulfatase Sulf-1", "gene_name": "SULF1", "organism": "Human", "refseq_name": "extracellular sulfatase Sulf-1 isoform 1 precursor", "refseq_ac": [ { "id": "NP_001121676", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001121676", "type": "external" } ], "gene_names_uniprotkb": "SULF1; KIAA1077", "gene_names_refseq": "SULF-1; SULF1", "protein_names_uniprotkb": "Extracellular sulfatase Sulf-1; 3.1.6.14; 3.1.6.1; Arylsulfatase; N-acetylglucosamine-6-sulfatase; hSulf-1", "protein_names_refseq": "N-acetylglucosamine-6-sulfatase; arylsulfatase; extracellular sulfatase Sulf-1 isoform 1 precursor; extracellular sulfatase Sulf-1; sulfatase FP", "tax_id": 9606, "disease": "", "pathway": " (hsa:23213)", "pathway_count": 1, "publication_count": 27, "publication_id_list": "10.1101/2023.09.13.557529;11237011;12368295;12686563;14699503;15817123;19159218;24715725;25576301;26992070;28904123;29093164;29741879;29786170;32157095;32377705;32421262;32432744;32938616;33141586;33592498;34029511;34211107;36284347;36622753;37074911;37938771", "class_list": "glycogene", "function": "Down-regulation of hSulf1 contributes to hepatocarcinogenesis by enhancing heparin-binding growth factor signaling and resistance to apoptosis., [RefSeq, PubMed]; EZH2/hSULF1 axis mediates receptor tyrosine kinase signaling to shape cartilage tumor progression. Publication Status: Online-Only, [RefSeq, PubMed]; Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity (PubMed:12368295, PubMed:12686563). It can remove sulfate from the C-6 position of glucosamine within specific subregions of intact heparin (PubMed:12368295, PubMed:12686563). Diminishes HSPG (heparan sulfate proteoglycans) sulfation, inhibits signaling by heparin-dependent growth factors, diminishes proliferation, and facilitates apoptosis in response to exogenous stimulation (PubMed:12686563)., [UniProtKB, PubMed, PubMed]; HSulf1 and palbociclib exert synergistic antitumor effects on RBpositive triplenegative breast cancer., [RefSeq, PubMed]; High expression of Hsulf-1 occurs in the stromal elements as well as in the tumor cells in pancreatic cancer and interferes with heparin-binding growth factor signaling Publication Status: Online-Only, [RefSeq, PubMed]; LncRNA NEAT1 regulated cell proliferation, invasion, migration and apoptosis by targeting has-miR-376b-3p/SULF1 axis in non-small cell lung cancer., [RefSeq, PubMed]; Modulates signaling by heparin-binding growth factors, and HSulf-1 down-regulation represents a novel mechanism by which cancer cells can enhance growth factor signaling, [RefSeq, PubMed]; Rs3802278 in 3'-UTR of SULF1 associated with platinum resistance and survival in Chinese epithelial ovarian cancer patients., [RefSeq, PubMed]; Sulfs are extracellular endosulfatases with strong potential for modulating the interactions of heparan sulfate proteoglycans in the extracellular microenvironment, [RefSeq, PubMed]; This gene encodes an extracellular heparan sulfate endosulfatase. The encoded enzyme selectively removes 6-O-sulfate groups from heparan sulfate chains of heparan sulfate proteoglycans (HSPGs). The enzyme is secreted through the Golgi and is subsequently localized to the cell surface. The expression of this gene may be down-regulated in several types of cancer, including hepatocellular (HCC), ovarian and breast cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]., [RefSeq]; Upregulated sulfatase and downregulated MMP-3 in thoracic aortic aneurysm., [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": 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": 0, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 1097, "reported_interactions": 0, "missing_score": 8657, "biomarker_type": "", "glycan_count": 44, "disease_count": 0, "glyco_site_count": 10, "binding_glycan_count": 0, "secondary_ac_list": "Q86YV8;Q8NCA2;Q9UPS5", "ec_number_list": [ { "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": "3.1.6.15", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.6.15", "type": "external" } ], "go_molecular_function": "GO:0008449 N-acetylglucosamine-6-sulfatase activity;GO:0005509 calcium ion binding;GO:0004065 arylsulfatase activity;GO:0016787 hydrolase activity;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005615 extracellular space;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0045121 membrane raft", "go_biological_process": "GO:0030201 heparan sulfate proteoglycan metabolic process;GO:0060384 innervation;GO:0040036 regulation of fibroblast growth factor receptor signaling pathway;GO:0014846 esophagus smooth muscle contraction;GO:0035860 glial cell-derived neurotrophic factor receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "Q8IWU6-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1000000010000.101.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T5J6-1", "uniprot_id": [ { "id": "SWT1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T5J6", "type": "external" } ], "mass": 103222.0, "length": 900, "protein_name": "Transcriptional protein SWT1", "gene_name": "SWT1", "organism": "Human", "refseq_name": "transcriptional protein SWT1", "refseq_ac": [ { "id": "NP_001098988", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098988", "type": "external" } ], "gene_names_uniprotkb": "SWT1; C1orf26", "gene_names_refseq": "C1orf26; HsSwt1; SWT1", "protein_names_uniprotkb": "Transcriptional protein SWT1", "protein_names_refseq": "transcriptional protein SWT1", "tax_id": 9606, "disease": "", "pathway": " (hsa:54823)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "11237011;11318611;19240061;20200978;20237496;23271734;26154972;26992070;27846572;29493099;29557506;30379171;30429286;31844290;32157095;32387766;32488085;32502341;32938616;33141586;33392160;33968037;33981976;34509645;35051231;35254053;35580925;36010968;36241641;36284347", "class_list": "", "function": "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": 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": 0, "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": 6, "binding_glycan_count": 0, "secondary_ac_list": "Q8NEK9;Q9BZQ7;Q9NXQ0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 3.8, "record_id": "Q5T5J6-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y2H2-1", "uniprot_id": [ { "id": "SAC2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y2H2", "type": "external" } ], "mass": 128407.0, "length": 1132, "protein_name": "Phosphatidylinositide 4-phosphatase SAC2", "gene_name": "INPP5F", "organism": "Human", "refseq_name": "phosphatidylinositide 4-phosphatase SAC2 isoform 2", "refseq_ac": [ { "id": "NP_001230123", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230123", "type": "external" } ], "gene_names_uniprotkb": "INPP5F; KIAA0966; MSTP007; MSTP047; SAC2", "gene_names_refseq": "INPP5F; MSTP007; MSTPO47; SAC2; hSAC2", "protein_names_uniprotkb": "Phosphatidylinositide 4-phosphatase SAC2; 3.1.3.-; Inositol polyphosphate 5-phosphatase F; Sac domain-containing inositol phosphatase 2; Sac domain-containing phosphoinositide 4-phosphatase 2; hSAC2", "protein_names_refseq": "Sac domain-containing inositol phosphatase 2; phosphatidylinositide 4-phosphatase SAC2 isoform 2; phosphatidylinositide 4-phosphatase SAC2; phosphatidylinositide phosphatase SAC2; sac domain-containing phosphoinositide 4-phosphatase 2; sac domain-containing phosphoinositide 5-phosphatase 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:22876); (R-HSA-1660516)", "pathway_count": 2, "publication_count": 99, "publication_id_list": "10.1101/2023.09.13.557529;10419465;10766823;10805725;11237011;11274189;11302699;11706043;11733541;11923287;12847286;15716355;16385451;1655747;16787938;17322895;17556371;17651088;18524850;18669648;18950639;19651622;19664994;19875726;21081650;23186163;23818870;24190977;24715725;25418920;25469497;25476455;25576301;25645385;25869668;25869669;25892735;26154972;26203138;26430724;26496610;26992070;27543614;27600516;27862975;28218747;28228285;28832583;28904123;29242379;29331515;29351928;29393594;29437277;29493099;29508533;29557506;29632711;29786170;29789417;29930882;30192525;30315122;30524438;31217245;31533953;31844290;32157095;32265295;32357974;32387766;32488085;32502341;32693431;32897882;32983136;33091337;33141586;33298915;33392160;33592498;33912179;33968037;33981976;34087483;34171305;34211107;34509645;35051231;35561310;35580925;35848021;36241641;36284347;37938771;7608176;7628435;8999962;9295334", "class_list": "", "function": "Imprinting aberrations of SNRPN, ZAC1 and INPP5F genes involved in the pathogenesis of congenital heart disease with extracardiac malformations., [RefSeq, PubMed]; Inpp5f is a polyphosphoinositide phosphatase that regulates cardiac hypertrophic responsiveness., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Parkinson's Disease rs117896735 Variant Regulates INPP5F Expression in Brain Tissues and Increases Risk of Alzheimer's Disease., [RefSeq, PubMed]; Phosphoinositide phosphatase which catalyzes the hydrolysis of phosphatidylinositol 4-phosphate (1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate), PtdIns(4)P). May be functionally linked to OCRL, which converts phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to PtdIns, for a sequential dephosphorylation of (PtdIns(4,5)P2) at the 5 and 4 position of inositol, thus playing an important role in the endocytic recycling (PubMed:25869668, PubMed:25869669). Regulator of TF:TFRC and integrins recycling pathway, is also involved in cell migration mechanisms (PubMed:25869669). Modulates AKT/GSK3B pathway by decreasing AKT and GSK3B phosphorylation (PubMed:17322895). Negatively regulates STAT3 signaling pathway through inhibition of STAT3 phosphorylation and translocation to the nucleus (PubMed:25476455). Functionally important modulator of cardiac myocyte size and of the cardiac response to stress (By similarity). May play a role as negative regulator of axon regeneration after central nervous system injuries (By similarity). May be involved in insulin granule docking at the plasma membrane of pancreatic cells, an essential step for insulin secretion (PubMed:31533953)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Sac2 colocalizes with early endosomal markers and is recruited to transferrin-containing vesicles during endocytic recycling., [RefSeq, PubMed]; The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]., [RefSeq]; We identified inositol polyphosphate-5-phosphatase F (INPP5F) as a prognostic factor for progression-free survival in Chronic lymphocytic 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": 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": 9, "reported_mutagensis": 1, "reported_glycation": 0, "reported_snv": 28, "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": "B3KRF1;D3DRD1;Q2T9J4;Q5W135;Q5W136;Q6NVY2;Q86U97;Q9H3D9;Q9NT51", "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" } ], "go_molecular_function": "GO:0034596 phosphatidylinositol phosphate 4-phosphatase activity;GO:0042803 protein homodimerization activity;GO:0034595 phosphatidylinositol phosphate 5-phosphatase activity;GO:0052833 inositol monophosphate 4-phosphatase activity;GO:0043812 phosphatidylinositol-4-phosphate phosphatase activity", "go_cellular_component": "GO:0005769 early endosome;GO:0005905 clathrin-coated pit;GO:0030424 axon;GO:0030425 dendrite;GO:0043025 neuronal cell body", "go_biological_process": "GO:0031161 phosphatidylinositol catabolic process;GO:0008344 adult locomotory behavior;GO:2000145 regulation of cell motility;GO:0001921 positive regulation of receptor recycling;GO:0014898 cardiac muscle hypertrophy in response to stress", "synthesized_glycan_count": 0, "hit_score": 10.4, "record_id": "Q9Y2H2-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UJZ1-1", "uniprot_id": [ { "id": "STML2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UJZ1", "type": "external" } ], "mass": 38534.0, "length": 356, "protein_name": "Stomatin-like protein 2, mitochondrial", "gene_name": "STOML2", "organism": "Human", "refseq_name": "stomatin-like protein 2, mitochondrial isoform b", "refseq_ac": [ { "id": "NP_001273960", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001273960", "type": "external" } ], "gene_names_uniprotkb": "STOML2; HSPC108; SLP2", "gene_names_refseq": "HSPC108; SLP-2; STOML2", "protein_names_uniprotkb": "Stomatin-like protein 2, mitochondrial; EPB72-like protein 2; Paraprotein target 7; Paratarg-7; SLP-2", "protein_names_refseq": "EPB72-like 2; EPB72-like protein 2; paraprotein target 7; paratarg-7; stomatin (EPB72)-like 2; stomatin-like protein 2, mitochondrial isoform b; stomatin-like protein 2, mitochondrial", "tax_id": 9606, "disease": "", "pathway": " (hsa:30968); (R-HSA-8949664); (R-HSA-9840373)", "pathway_count": 3, "publication_count": 116, "publication_id_list": "10713127;11237011;11435687;15592455;16533792;16671055;17121834;18339324;18641330;18691976;18991276;19007248;19405124;19415658;19597348;19608861;19691289;19944461;20068231;21654843;21746876;21791414;22623988;23186163;23301498;24275569;24366607;25433032;25502872;25576301;25645385;25677163;25880248;26154972;26375851;26768311;26923599;26992070;27452731;27642048;27737933;27846572;27920218;28228285;28832583;28834231;28904123;29242379;29314611;29393594;29493099;29557506;29632046;29632711;29786170;29789417;29930882;30192525;30315122;30524438;30573663;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32132706;32132707;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;33141586;33298915;33537174;33592498;33912179;33936100;33968037;33981976;34171305;34185709;34229054;34357683;34509645;34561969;34725712;35051231;35154160;35163244;35251023;35318648;35388015;35580925;35656794;36010968;36215666;36241641;36906621;37217939;37327776;37550454;37938771;38073379;38214751;38665916;40914422", "class_list": "", "function": "CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability., [RefSeq, PubMed]; Diagnostic and prognostic utility of TROP-2, SLP-2, and CXCL12 expression in papillary thyroid carcinoma., [RefSeq, PubMed]; Mitochondrial protein that probably regulates the biogenesis and the activity of mitochondria. Stimulates cardiolipin biosynthesis, binds cardiolipin-enriched membranes where it recruits and stabilizes some proteins including prohibitin and may therefore act in the organization of functional microdomains in mitochondrial membranes. Through regulation of the mitochondrial function may play a role into several biological processes including cell migration, cell proliferation, T-cell activation, calcium homeostasis and cellular response to stress. May play a role in calcium homeostasis through negative regulation of calcium efflux from mitochondria. Required for mitochondrial hyperfusion a pro-survival cellular response to stress which results in increased ATP production by mitochondria. May also regulate the organization of functional domains at the plasma membrane and play a role in T-cell activation through association with the T-cell receptor signaling complex and its regulation., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB, UniProtKB]; Overexpressing lipid raft protein STOML2 modulates the tumor microenvironment via NF-kappaB signaling in colorectal cancer. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of stomatin-like protein 2 is associated with neoplasms, [RefSeq, PubMed]; STOML2 restricts mitophagy and increases chemosensitivity in pancreatic cancer through stabilizing PARL-induced PINK1 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "B4E1K7;D3DRN3;O60376;Q53G29;Q96FY2;Q9P042", "ec_number_list": [], "go_molecular_function": "GO:0051020 GTPase binding;GO:0042608 T cell receptor binding;GO:1901612 cardiolipin binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0035710 CD4-positive, alpha-beta T cell activation;GO:0010876 lipid localization;GO:1990046 stress-induced mitochondrial fusion;GO:0051259 protein complex oligomerization;GO:0006874 intracellular calcium ion homeostasis", "synthesized_glycan_count": 0, "hit_score": 11.9, "record_id": "Q9UJZ1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14159-1", "uniprot_id": [ { "id": "SPIDR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14159", "type": "external" } ], "mass": 100316.0, "length": 915, "protein_name": "DNA repair-scaffolding protein", "gene_name": "SPIDR", "organism": "Human", "refseq_name": "DNA repair-scaffolding protein isoform 1", "refseq_ac": [ { "id": "NP_001073863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073863", "type": "external" } ], "gene_names_uniprotkb": "SPIDR; KIAA0146", "gene_names_refseq": "KIAA0146; ODG9; SPIDR", "protein_names_uniprotkb": "DNA repair-scaffolding protein; Scaffolding protein involved in DNA repair", "protein_names_refseq": "DNA repair-scaffolding protein isoform 1; DNA repair-scaffolding protein; scaffolding protein involved in DNA repair", "tax_id": 9606, "disease": "ovarian dysgenesis 9 (Disease Ontology:DOID:0061013)", "pathway": " (hsa:23514); (R-HSA-5693568)", "pathway_count": 2, "publication_count": 49, "publication_id_list": "11237011;12686547;12721304;14527420;15502879;15858003;17289582;19596236;20965415;22645308;23481700;23509288;23754376;24076221;24371268;24509834;24715725;24831703;25418920;26154972;26992070;27846572;27967308;28218747;28834231;28904123;29393594;29437277;29608566;30524438;31665741;31844290;32265295;32387766;32502341;32897882;32938616;32983136;33298915;33912179;33968037;34087483;34171305;34253720;34509645;34697795;35051231;35580925;39169038", "class_list": "", "function": "A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability., [RefSeq, PubMed]; Consistent with its role as a scaffolding protein for the assembly of BLM and RAD51 foci, cells depleted of SPIDR show increased rate of sister chromatid exchange and defects in homologous recombination repair., [RefSeq, PubMed]; Involved in early stages DNA double-strand break (DSB) repair via homologous recombination (HR) (PubMed:23509288, PubMed:23754376, PubMed:34253720, PubMed:39169038). As part of the Shu complex, promotes HR by regulating replication protein-A (RPA) dynamics on single-stranded DNA, thereby stabilizing RAD51 and DMC1 filaments on DNA (PubMed:34253720, PubMed:39169038). The Shu complex is essential during meiosis by stabilizing DMC1 filaments (PubMed:27967308, PubMed:34697795). In contrast, it is critical for only certain types of homologous-directed DNA repair, such as inter-homolog homologous recombination (IR-HR) (PubMed:34253720). IR-HR is a DNA repair mechanism where a cell repairs a DSB on one chromosome using the matching homologous chromosome as a template, rather than the sister chromatid (PubMed:34253720)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Our study uncovers a protein complex, which consists of SWS1, SWSAP1, SPIDR and PDS5B, involved in DNA repair and provides insight into Shu complex function and composition., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B4DFV2;B4E0Y6;Q96BI5", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0000228 nuclear chromosome", "go_biological_process": "GO:0070202 regulation of establishment of protein localization to chromosome;GO:0006974 DNA damage response;GO:0031334 positive regulation of protein-containing complex assembly;GO:0000724 double-strand break repair via homologous recombination;GO:0071479 cellular response to ionizing radiation", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q14159-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O15321-1", "uniprot_id": [ { "id": "TM9S1_HUMAN", "url": "https://www.uniprot.org/uniprot/O15321", "type": "external" } ], "mass": 68861.0, "length": 606, "protein_name": "Transmembrane 9 superfamily member 1", "gene_name": "TM9SF1", "organism": "Human", "refseq_name": "transmembrane 9 superfamily member 1 isoform b precursor", "refseq_ac": [ { "id": "NP_001014842", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001014842", "type": "external" } ], "gene_names_uniprotkb": "TM9SF1", "gene_names_refseq": "HMP70; MP70; TM9SF1", "protein_names_uniprotkb": "Transmembrane 9 superfamily member 1; MP70 protein family member; hMP70", "protein_names_refseq": "MP70 protein family member; multispanning membrane protein (70kD); transmembrane 9 superfamily member 1 isoform b precursor; transmembrane protein 9 superfamily member 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10548)", "pathway_count": 1, "publication_count": 52, "publication_id_list": "10.1101/2023.09.13.557529;11237011;19029833;23481700;24190977;24715725;25576301;25645385;25892735;26992070;28228285;28832583;28904123;29242379;29393594;29508533;29557506;29632046;29741879;29769354;29786170;29789417;30429286;30833945;31154438;31530632;31844290;32157095;32350084;32387766;32502341;32897882;32938616;32983136;33717175;33912179;33968037;34171305;34357683;34405274;34509645;34932366;35051231;35154160;35318648;35561310;35580925;36010968;36241641;37074911;37938771;9332367", "class_list": "", "function": "Plays an essential role in autophagy., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; The results of transmission electron microscopy and immunoblotting to examine LC3-II levels further confirmed the ability of TM9SF1 to induce autophagy., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 8818, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "D3DS65;Q86SZ6;Q96FI8", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000421 autophagosome membrane;GO:0016020 membrane;GO:0005765 lysosomal membrane;GO:0031410 cytoplasmic vesicle", "go_biological_process": "GO:0006914 autophagy;GO:0072657 protein localization to membrane", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "O15321-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53H47-1", "uniprot_id": [ { "id": "SETMR_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53H47", "type": "external" } ], "mass": 78034.0, "length": 684, "protein_name": "Histone-lysine N-methyltransferase SETMAR", "gene_name": "SETMAR", "organism": "Human", "refseq_name": "histone-lysine N-methyltransferase SETMAR isoform 2", "refseq_ac": [ { "id": "NP_001230652", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001230652", "type": "external" } ], "gene_names_uniprotkb": "SETMAR", "gene_names_refseq": "METNASE; Mar1; SETMAR", "protein_names_uniprotkb": "Histone-lysine N-methyltransferase SETMAR; Metnase; SET domain and mariner transposase fusion protein", "protein_names_refseq": "SET domain and mariner transposase fusion gene-containing protein; SET domain and mariner transposase fusion protein; histone-lysine N-methyltransferase SETMAR isoform 2; histone-lysine N-methyltransferase SETMAR", "tax_id": 9606, "disease": "", "pathway": " (hsa:6419)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;16332963;16672366;16989604;17403897;17877369;18263876;18790802;19608861;19664994;19690332;20068231;20457750;20521842;21187428;21406692;22231448;23186163;24573677;24714562;25024738;26728094;26992070;27846572;28904123;30429286;31844290;31848261;31998317;32157095;32161166;32357974;32502341;33141586;33298915;34211107;34561969;34932366;35051231;35378129;36010968;36241641;36706314;38253038;40596516;9461395", "class_list": "", "function": "Investigating the Expression Pattern of the SETMAR Gene Transcript Variants in Childhood Acute Leukemia: Revisiting an Old Gene., [RefSeq, PubMed]; Metnase is a nonhomologous end-joining repair protein that regulates genomic integration of exogenous DNA and establishes a relationship among histone modification, DNA repair, and integration., [RefSeq, PubMed]; Protein derived from the fusion of a methylase with the transposase of an Hsmar1 transposon that plays a role in DNA double-strand break repair, stalled replication fork restart and DNA integration. DNA-binding protein, it is indirectly recruited to sites of DNA damage through protein-protein interactions. Also has kept a sequence-specific DNA-binding activity recognizing the 19-mer core of the 5'-terminal inverted repeats (TIRs) of the Hsmar1 element and displays a DNA nicking and end joining activity (PubMed:16332963, PubMed:16672366, PubMed:17403897, PubMed:17877369, PubMed:18263876, PubMed:20521842, PubMed:22231448, PubMed:24573677). In parallel, has a histone methyltransferase activity and methylates 'Lys-4' and 'Lys-36' of histone H3. Specifically mediates dimethylation of H3 'Lys-36' at sites of DNA double-strand break and may recruit proteins required for efficient DSB repair through non-homologous end-joining (PubMed:16332963, PubMed:21187428, PubMed:22231448). Also regulates replication fork processing, promoting replication fork restart and regulating DNA decatenation through stimulation of the topoisomerase activity of TOP2A (PubMed:18790802, PubMed:20457750)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Results suggest that Metnase's DNA cleavage activity, unlike those of other eukaryotic transposases, is not coupled to its sequence-specific DNA binding., [RefSeq, PubMed]; Structural and genome-wide analyses suggest that transposon-derived protein SETMAR alters transcription and splicing., [RefSeq, PubMed]; These data suggest that vectors based on the Himar1 transposable element, in conjunction with the hyperactive mutant transposase C9, may be suitable vectors for gene therapy applications., [RefSeq, PubMed]; This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 9, "reported_glycation": 0, "reported_snv": 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": "B4DY74;E7EN68;Q13579;Q1G668;Q96F41", "ec_number_list": [ { "id": "2.1.1.357", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.357", "type": "external" }, { "id": "3.1.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.-.-", "type": "external" } ], "go_molecular_function": "GO:0003677 DNA binding;GO:0008270 zinc ion binding;GO:0042803 protein homodimerization activity;GO:0003690 double-stranded DNA binding;GO:0004519 endonuclease activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005730 nucleolus;GO:0035861 site of double-strand break;GO:0005694 chromosome", "go_biological_process": "GO:2000373 positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity;GO:2001034 positive regulation of double-strand break repair via nonhomologous end joining;GO:0044774 mitotic DNA integrity checkpoint signaling;GO:2001251 negative regulation of chromosome organization;GO:0008283 cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q53H47-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99470-1", "uniprot_id": [ { "id": "SDF2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99470", "type": "external" } ], "mass": 23026.0, "length": 211, "protein_name": "Stromal cell-derived factor 2", "gene_name": "SDF2", "organism": "Human", "refseq_name": "stromal cell-derived factor 2 precursor", "refseq_ac": [ { "id": "NP_008854", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008854", "type": "external" } ], "gene_names_uniprotkb": "SDF2", "gene_names_refseq": "SDF2", "protein_names_uniprotkb": "Stromal cell-derived factor 2; SDF-2", "protein_names_refseq": "SDF-2; stromal cell-derived factor 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:6388)", "pathway_count": 1, "publication_count": 48, "publication_id_list": "11237011;19479237;19513569;24715725;25576301;25802875;26154972;26286023;26992070;27157913;27335075;27846572;27920218;28063628;28467828;28514659;28597544;28832583;28904123;29242379;29393594;29557506;29632046;29632711;29786170;30429286;30524438;31154438;31611695;31844290;31848261;31998317;32157095;32161166;32350084;32504504;32897882;32938616;33123756;33298915;33912179;33936100;35251023;35561310;36284347;37938771;38665916;8918255", "class_list": "glycogene;glycosyltransferase", "function": "Data indicate a function for stromal cell-derived factor 2 (SDF2) as a component of the heat-shock proteins 90-endothelial nitric oxide synthase (Hsp90-eNOS) complex that is critical for signal transduction in endothelial cells. Publication Status: Online-Only, [RefSeq, PubMed]; Hsp72 prevented SDF-2 degradation in a chaperone activity-dependent manner avoiding oxaliplatin-induced cell death in oxaliplatin-resistant human gastric cancer cells., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SDF-2, SDF-4 and SDF-5 are expressed in mammary tissues and cells and that a reduced level of SDF-2 and SDF-4 are associated with a poor clinical outcome., [RefSeq, PubMed]; SDF2 associates with ERdj3 and acts as a component in the BiP chaperone cycle to prevent the aggregation of misfolded proteins., [RefSeq, PubMed]; Stromal Cell-Derived Factor (SDF) 2 and the Endoplasmic Reticulum Stress Response of Trophoblast Cells in Gestational Diabetes Mellitus and In vitro Hyperglycaemic Condition., [RefSeq, PubMed]; The protein encoded by this gene is believed to be a secretory protein. It has regions of similarity to hydrophilic segments of yeast mannosyltransferases. Its expression is ubiquitous and the gene appears to be relatively conserved among mammals. Alternate splicing results in both coding and non-coding variants. A pseudogene of this gene is located on chromosome 15. [provided by RefSeq, Dec 2011]., [RefSeq]; These findings suggest that SDF2 may be an important regulatory factor by which trophoblast cells can control cell survival under ER stress., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 246, "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": "Q9BQ79", "ec_number_list": [], "go_molecular_function": "GO:0051787 misfolded protein binding", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0101031 protein folding chaperone complex", "go_biological_process": "GO:0042026 protein refolding", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q99470-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5MJ08-1", "uniprot_id": [ { "id": "SPXN4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5MJ08", "type": "external" } ], "mass": 11168.0, "length": 99, "protein_name": "Sperm protein associated with the nucleus on the X chromosome N4", "gene_name": "SPANXN4", "organism": "Human", "refseq_name": "sperm protein associated with the nucleus on the X chromosome N4", "refseq_ac": [ { "id": "NP_001009613", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009613", "type": "external" } ], "gene_names_uniprotkb": "SPANXN4", "gene_names_refseq": "CT11.9; SPANXN4", "protein_names_uniprotkb": "Sperm protein associated with the nucleus on the X chromosome N4; Nuclear-associated protein SPAN-Xn4; SPANX family member N4; SPANX-N4", "protein_names_refseq": "cancer/testis antigen family 11, member 9; nuclear-associated protein SPAN-Xn4; sperm protein associated with the nucleus on the X chromosome N4", "tax_id": 9606, "disease": "", "pathway": " (hsa:441525)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;14973187;16251457;30379171", "class_list": "", "function": "This gene represents one of several duplicated family members that are located on the X chromosome. This gene family encodes proteins that play a role in spermiogenesis. These proteins represent a specific subgroup of cancer/testis-associated antigens, and they may be candidates for tumor vaccines. This family member belongs to a subgroup of related genes that are present in all primates and rats and mice, and thus, it represents one of the ancestral family members. [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": 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": "Q0ZNK6;Q5W0S6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q5MJ08-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZU3-1", "uniprot_id": [ { "id": "TM39B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZU3", "type": "external" } ], "mass": 56274.0, "length": 492, "protein_name": "Transmembrane protein 39B", "gene_name": "TMEM39B", "organism": "Human", "refseq_name": "transmembrane protein 39B isoform 2", "refseq_ac": [ { "id": "NP_001306606", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001306606", "type": "external" } ], "gene_names_uniprotkb": "TMEM39B", "gene_names_refseq": "TMEM39B", "protein_names_uniprotkb": "Transmembrane protein 39B", "protein_names_refseq": "transmembrane protein 39B isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:55116)", "pathway_count": 1, "publication_count": 45, "publication_id_list": "11230166;11237011;23481700;24714562;24715725;25892735;26154972;26992070;27846572;27862975;27920218;28218747;28832583;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29786170;30315122;30410026;30833945;31844290;31848261;31998317;32157095;32488085;32502341;32938616;32983136;33141586;33298915;33592498;33633747;33717175;33912179;33936100;33968037;34171305;34211107;35051231;35580925;36581221", "class_list": "", "function": "May protect the cells against DNA damage caused by exposure to the cold-warming stress and facilitates tissue damage repair during the recovery phase., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 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": "B4DKN8;B4DQE6;B4DTN8;D3DPP4;Q6IA44", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 4.6, "record_id": "Q9GZU3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59537-1", "uniprot_id": [ { "id": "T2R43_HUMAN", "url": "https://www.uniprot.org/uniprot/P59537", "type": "external" } ], "mass": 35599.0, "length": 309, "protein_name": "Taste receptor type 2 member 43", "gene_name": "TAS2R43", "organism": "Human", "refseq_name": "taste receptor type 2 member 43", "refseq_ac": [ { "id": "NP_795365", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_795365", "type": "external" } ], "gene_names_uniprotkb": "TAS2R43; TAS2R45", "gene_names_refseq": "T2R43; T2R52; TAS2R43", "protein_names_uniprotkb": "Taste receptor type 2 member 43; T2R43; T2R52; Taste receptor type 2 member 52", "protein_names_refseq": "taste receptor type 2 member 43; taste receptor type 2 member 52; taste receptor, type 2, member 43", "tax_id": 9606, "disease": "", "pathway": " (hsa:259289); (hsa:259291); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 5, "publication_count": 83, "publication_id_list": "10761935;11007482;11208605;11696554;11917125;12015988;12120503;12139982;12379855;12581520;12584440;1325650;1329206;14634208;15194188;15353592;15385606;15496549;15537898;15576628;15738140;15951850;16634148;16923326;17167479;17506496;18434541;18577758;19104071;19628819;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23632330;23674604;24157691;24214976;24235081;24360415;24633359;24647340;2534964;25853419;26037485;26377607;26391354;27071541;2748346;27893789;28256214;2834384;29466837;29614098;29659026;29744740;30013099;30563861;33461297;34784295;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Bitter Sensing TAS2R50 Mediates the trans-Resveratrol-Induced Anti-inflammatory Effect on Interleukin 6 Release in HGF-1 Cells in Culture., [RefSeq, PubMed]; Gustducin-coupled receptor immplicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. Activated by the sulfonyl amide sweeteners saccharin and acesulfame K. In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency. May act as chemosensory receptors in airway epithelial cells to detect and eliminate potential noxious agents from the airways (By similarity)., [UniProtKB]; Human intestinal bitter taste receptors regulate innate immune responses and metabolic regulators in obesity., [RefSeq, PubMed]; Study demonstrates that the response profiles of the cat bitter receptors Tas2r38 and Tas2r43 are distinct from those of their orthologous human receptors Publication Status: Online-Only, [RefSeq, PubMed]; TAS2R43 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 2009]., [RefSeq]; The effect of the TAS2R43 gene on coffee liking is mediated by caffeine and in particular by the H212R variant. Publication Status: Online-Only, [RefSeq, PubMed]; Those with at least one sensitive TAS2R38 allele (AP or PP genotype) were more likely to report rejecting liquid medications than were those without a taster allele (AA genotype Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "P59546;Q645X4", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0008527 taste receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0031514 motile cilium;GO:0060170 ciliary membrane", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "P59537-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86VE9-1", "uniprot_id": [ { "id": "SERC5_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86VE9", "type": "external" } ], "mass": 47009.0, "length": 423, "protein_name": "Serine incorporator 5", "gene_name": "SERINC5", "organism": "Human", "refseq_name": "serine incorporator 5 isoform 3", "refseq_ac": [ { "id": "NP_001167542", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001167542", "type": "external" } ], "gene_names_uniprotkb": "SERINC5; C5orf12", "gene_names_refseq": "C5orf12; SERINC5; TPO1", "protein_names_uniprotkb": "Serine incorporator 5", "protein_names_refseq": "serine incorporator 5 isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:256987); (R-HSA-977347)", "pathway_count": 2, "publication_count": 50, "publication_id_list": "11054547;11237011;12393813;12633500;12688535;15193426;15536068;16120614;16580895;17672918;18342636;19235232;20106978;25576301;25645385;26154972;26416733;26416734;26703715;26992070;27600516;28218747;28467828;28832583;28834231;29242379;29437277;30158294;30524438;31844290;32157095;32357974;32387766;32488085;32938616;32983136;33298915;33537174;33592498;33968037;33981976;34357683;36010968;36284347;36976020;37474505;37768085;38400059;38785977;9188776", "class_list": "", "function": "Beyond Impairment of Virion Infectivity: New Activities of the Anti-HIV Host Cell Factor SERINC5. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Disruption of Transmembrane Phosphatidylserine Asymmetry by HIV-1 Incorporated SERINC5 Is Not Responsible for Virus Restriction. Publication Status: Online-Only, [RefSeq, PubMed]; Relative resistance of patient-derived envelope sequences to SERINC5-mediated restriction of HIV-1 infectivity., [RefSeq, PubMed]; Restriction factor required to restrict infectivity of lentiviruses, such as HIV-1: acts by inhibiting an early step of viral infection. Impairs the penetration of the viral particle into the cytoplasm (PubMed:26416733, PubMed:26416734). Non-ATP-dependent, non-specific lipid transporter for phosphatidylserine, phosphatidylcholine, and phosphatidylethanolamine. Functions as a scramblase that flips lipids in both directions across the membrane. Phospholipid scrambling results in HIV-1 surface exposure of phosphatidylserine and loss of membrane asymmetry, which leads to changes in HIV-1 Env conformation and loss of infectivity (PubMed:37474505). Enhances the incorporation of serine into phosphatidylserine and sphingolipids. May play a role in providing serine molecules for the formation of myelin glycosphingolipids in oligodendrocytes (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; SERINC5 Mediates a Postintegration Block to HIV-1 Gene Expression in Macrophages. Erratum:[mBio. 2023 Aug 31;14(4):e0122223. doi: 10.1128/mbio.01222-23. PMID: 37404014], [RefSeq, PubMed]; The apparent occurrence of an unusual TG 3' splice site in intron 11 is discussed, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 1, "mined_n_glycosites": 1, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 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": "B4DMH7;Q495A4;Q495A6", "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:0140104 molecular carrier activity", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0043209 myelin sheath", "go_biological_process": "GO:0017121 plasma membrane phospholipid scrambling;GO:0008654 phospholipid biosynthetic process;GO:0006563 L-serine metabolic process;GO:0006658 phosphatidylserine metabolic process;GO:0140374 antiviral innate immune response", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "Q86VE9-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000100010000.011.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BX79-1", "uniprot_id": [ { "id": "STRA6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BX79", "type": "external" } ], "mass": 73503.0, "length": 667, "protein_name": "Receptor for retinol uptake STRA6", "gene_name": "STRA6", "organism": "Human", "refseq_name": "receptor for retinol uptake STRA6 isoform a", "refseq_ac": [ { "id": "NP_001136089", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001136089", "type": "external" } ], "gene_names_uniprotkb": "STRA6; PP14296; PRO19578", "gene_names_refseq": "MCOPCB8; MCOPS9; PP14296; SLC69A1; STRA6", "protein_names_uniprotkb": "Receptor for retinol uptake STRA6; Retinol-binding protein receptor STRA6; Stimulated by retinoic acid gene 6 protein homolog", "protein_names_refseq": "RBP receptor; receptor for retinol uptake STRA6 isoform a; receptor for retinol uptake STRA6; retinol binding protein 4 receptor; retinol-binding protein receptor STRA6; stimulated by retinoic acid 6 homolog; stimulated by retinoic acid gene 6 homolog; stimulated by retinoic acid gene 6 protein homolog", "tax_id": 9606, "disease": "colorectal adenocarcinoma (Disease Ontology:DOID:0050861); syndromic microphthalmia 9 (Disease Ontology:DOID:0111807); exfoliation syndrome (Disease Ontology:DOID:13641)", "pathway": " (hsa:64220); (R-HSA-2453902); (R-HSA-9918449)", "pathway_count": 3, "publication_count": 64, "publication_id_list": "10075733;10617778;10753906;11123914;11237011;11274389;11358845;11832495;12036956;12177057;12407145;12975309;15314061;15471866;15498874;15865448;17255476;17273977;17503335;18316031;19049981;19112531;19213032;1925597;19309693;19664994;20192770;21368206;21493626;21774515;21901792;22665496;2303470;2542268;25576301;28228285;28649982;30905621;3170584;31844290;32387766;32859629;33912179;34171305;34357683;35051231;36284347;36635482;36758416;36843593;5315589;6288450;6342691;6512705;6589631;6679757;7929238;8105993;8884265;9452451;9490294;9541407;9703434;9920938", "class_list": "", "function": "Functions as a retinol transporter. Accepts all-trans retinol from the extracellular retinol-binding protein RBP4, facilitates retinol transport across the cell membrane, and then transfers retinol to the cytoplasmic retinol-binding protein RBP1 (PubMed:18316031, PubMed:22665496, PubMed:9452451). Retinol uptake is enhanced by LRAT, an enzyme that converts retinol to all-trans retinyl esters, the storage forms of vitamin A (PubMed:18316031, PubMed:22665496). Contributes to the activation of a signaling cascade that depends on retinol transport and LRAT-dependent generation of retinol metabolites that then trigger activation of JAK2 and its target STAT5, and ultimately increase the expression of SOCS3 and inhibit cellular responses to insulin (PubMed:21368206, PubMed:22665496). Important for the homeostasis of vitamin A and its derivatives, such as retinoic acid (PubMed:18316031). STRA6-mediated transport is particularly important in the eye, and under conditions of dietary vitamin A deficiency (Probable). Does not transport retinoic acid (PubMed:18316031)., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; STRA6 Expression Serves as a Prognostic Biomarker of Gastric Cancer., [RefSeq, PubMed]; STRA6 is essential for induction of vascular smooth muscle lineages in human embryonic cardiac outflow tract development., [RefSeq, PubMed]; STRA6 regulates tumor immune microenvironment and is a prognostic marker in BRAF-mutant papillary thyroid carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a membrane protein involved in the metabolism of retinol. The encoded protein acts as a receptor for retinol/retinol binding protein complexes. This protein removes the retinol from the complex and transports it across the cell membrane. Defects in this gene are a cause of syndromic microphthalmia type 9 (MCOPS9). Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]., [RefSeq]; Up-regulation of STRA6 predicts poor prognosis and contributes to oxaliplatin resistance in colorectal cancer., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 3, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K7F1;B7Z5M9;B7Z862;D3DW54;F5GYI8;I3L1G8;Q6PJF8;Q71RB9;Q7L9G1;Q7Z3U9;Q8TB21;Q9BX78;Q9H9U8", "ec_number_list": [], "go_molecular_function": "GO:0019841 retinol binding;GO:0016918 retinal binding;GO:0034632 retinol transmembrane transporter activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0032991 protein-containing complex", "go_biological_process": "GO:0060323 head morphogenesis;GO:0030540 female genitalia development;GO:0043585 nose morphogenesis;GO:0048520 positive regulation of behavior;GO:0060900 embryonic camera-type eye formation", "synthesized_glycan_count": 0, "hit_score": 6.7, "record_id": "Q9BX79-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P60508-1", "uniprot_id": [ { "id": "SYCY2_HUMAN", "url": "https://www.uniprot.org/uniprot/P60508", "type": "external" } ], "mass": 59523.0, "length": 538, "protein_name": "Syncytin-2", "gene_name": "ERVFRD-1", "organism": "Human", "refseq_name": "syncytin-2 preproprotein", "refseq_ac": [ { "id": "NP_997465", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997465", "type": "external" } ], "gene_names_uniprotkb": "ERVFRD-1; ERVFRDE1; PRO20218", "gene_names_refseq": "ERVFRD-1; ERVFRDE1; GLLL6191; HERV-FRD; HERV-W/FRD; UNQ6191; envFRD", "protein_names_uniprotkb": "Syncytin-2; Endogenous retrovirus group FRD member 1; Envelope polyprotein; HERV-FRD_6p24.1 provirus ancestral Env polyprotein; HERV-FRD", "protein_names_refseq": "HERV-FRD provirus ancestral Env polyprotein; HERV-FRD_6p24.1 provirus ancestral Env polyprotein; endogenous retrovirus group FRD, member 1; envelope polyprotein; syncytin 2; syncytin-2 preproprotein", "tax_id": 9606, "disease": "", "pathway": " (hsa:405754)", "pathway_count": 1, "publication_count": 25, "publication_id_list": "12970426;12975309;14557543;14694139;16140326;18988732;20058876;23492904;26853155;28228285;28904123;29393594;29557506;31092671;31530632;31844290;32387766;32938616;33912179;33993053;35051231;35251023;35710838;36768581;37695891", "class_list": "", "function": "Endogenous envelope proteins may have kept, lost or modified their original function during evolution but this one can still make pseudotypes with MLV, HIV-1 or SIV-1 virions and confer infectivity. Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. The surface protein mediates receptor recognition, while the transmembrane protein anchors the envelope heterodimer to the viral membrane through one transmembrane domain. The other hydrophobic domain, called fusion peptide, mediates fusion of the viral membrane with the target cell membrane (PubMed:14694139)., [UniProtKB, PubMed]; HERV-W envelope expression in blood leukocytes as a marker of disease severity of COVID-19., [RefSeq, PubMed]; Interaction between Long Noncoding RNAs and Syncytin-1/Syncytin-2 Genes and Transcripts: How Noncoding RNAs May Affect Pregnancy in Patients with Systemic Lupus Erythematosus. Publication Status: Online-Only, [RefSeq, PubMed]; Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of a human endogenous retrovirus provirus on chromosome 6 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product plays a major role in placental development and trophoblast fusion. The protein has the characteristics of a typical retroviral envelope protein, including a cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. [provided by RefSeq, Jun 2012]., [RefSeq]; Structural insights into the lysophospholipid brain uptake mechanism and its inhibition by syncytin-2., [RefSeq, PubMed]; The crystal structure of a central fragment of syncytin 2 'fossil' ectodomain is reported, allowing a remarkable superposition with the structures of the corresponding domains of present-day infectious retroviruses, [RefSeq, PubMed]; This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. The interaction with MFSD2A is apparently important for this process (PubMed:18988732)., [UniProtKB, PubMed]; Transgenic expression of the HERV-W envelope protein leads to polarized glial cell populations and a neurodegenerative environment., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 9, "mined_n_glycosites": 9, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 9, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 9, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 9, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 29, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006949 syncytium formation;GO:0000768 syncytium formation by plasma membrane fusion;GO:0007520 myoblast fusion", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "P60508-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000100000001.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TE77-1", "uniprot_id": [ { "id": "SSH3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TE77", "type": "external" } ], "mass": 72996.0, "length": 659, "protein_name": "Protein phosphatase Slingshot homolog 3", "gene_name": "SSH3", "organism": "Human", "refseq_name": "protein phosphatase Slingshot homolog 3", "refseq_ac": [ { "id": "NP_060327", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060327", "type": "external" } ], "gene_names_uniprotkb": "SSH3; SSH3L", "gene_names_refseq": "SSH3L; SSH3", "protein_names_uniprotkb": "Protein phosphatase Slingshot homolog 3; 3.1.3.16; 3.1.3.48; SSH-3L; SSH-like protein 3; hSSH-3L", "protein_names_refseq": "SSH-3L; SSH-like protein 3; hSSH-3L; protein phosphatase Slingshot homolog 3; slingshot 3; slingshot homolog 3", "tax_id": 9606, "disease": "alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:54961)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;11832213;14531860;16964243;17322306;17525332;17848544;17924679;18212344;18669648;18691976;18767875;20068231;20166139;23186163;24275569;26992070;27600516;28510447;29393594;29485866;29786170;31848261;32157095;32387766;32938616;33275222;33968037;33981976;34509645;35051231;35580925;36010968", "class_list": "", "function": "Expression of phosphatase-dead versions of SSH proteins, SSH1, SSH2 & SSH3 results in phosphorylation/inactivation of cofilin, changes in cytoskeleton organization, loss of cell polarity, and assembly of aberrant arrays of laminin-332 in keratinocytes., [RefSeq, PubMed]; Protein phosphatase which may play a role in the regulation of actin filament dynamics. Can dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly (By similarity)., [UniProtKB]; SSH3 promotes malignant progression of HCC by activating FGF1-mediated FGF/FGFR pathway., [RefSeq, PubMed]; The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[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": 8, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q6PK42;Q76I75;Q8N9L8;Q8WYL0;Q9NV45;Q9NWZ7", "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": "3.1.3.53", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.53", "type": "external" }, { "id": "3.1.3.52", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.52", "type": "external" }, { "id": "3.1.3.27", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.27", "type": "external" }, { "id": "3.1.3.86", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.86", "type": "external" }, { "id": "3.1.3.36", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.36", "type": "external" }, { "id": "3.1.3.74", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.74", "type": "external" } ], "go_molecular_function": "GO:0003779 actin binding;GO:0004722 protein serine/threonine phosphatase activity;GO:0004721 phosphoprotein phosphatase activity;GO:0004725 protein tyrosine phosphatase activity;GO:0016791 phosphatase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005856 cytoskeleton", "go_biological_process": "GO:0030036 actin cytoskeleton organization;GO:0030837 negative regulation of actin filament polymerization", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "Q8TE77-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NUQ6-1", "uniprot_id": [ { "id": "SPS2L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NUQ6", "type": "external" } ], "mass": 61729.0, "length": 558, "protein_name": "SPATS2-like protein", "gene_name": "SPATS2L", "organism": "Human", "refseq_name": "SPATS2-like protein isoform a", "refseq_ac": [ { "id": "NP_001093892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093892", "type": "external" } ], "gene_names_uniprotkb": "SPATS2L; DNAPTP6; SP1224", "gene_names_refseq": "DNAPTP6; SGNP; SPATS2L", "protein_names_uniprotkb": "SPATS2-like protein; DNA polymerase-transactivated protein 6; SGNP; Stress granule and nucleolar protein", "protein_names_refseq": "DNA polymerase-transactivated protein 6; SPATS2-like protein isoform a; SPATS2-like protein; stress granule and nucleolar protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:26010)", "pathway_count": 1, "publication_count": 74, "publication_id_list": "11230166;11237011;15498874;18452278;18669648;19005571;19691289;19913121;20068231;20628086;22424782;22706990;23186163;23481700;24275569;24714562;25358868;25418920;25576301;25892735;26728094;26758079;26811146;26992070;27862975;27920218;28063628;28218747;28228285;28510447;28832583;28904123;29242379;29393594;29437277;29508533;29557506;29632046;29786170;30315122;30410026;30524438;30644648;31217245;31844290;32157095;32357974;32488085;32502341;32897882;32938616;32983136;33097673;33592498;33717175;33912179;33968037;33981976;34019948;34087483;34171305;34561969;34932366;35051231;35318648;35580925;36010968;36241641;36284347;36774517;37217939;38253038;38665916;40596516", "class_list": "", "function": "Down-regulation of SPATS2L expression may be related to the etiology of poor sleep quality and chronic abdominal pain. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Respiratory traits and coal workers' pneumoconiosis: Mendelian randomisation and association analysis., [RefSeq, PubMed]; SGNP is localized in both the cytoplasm and nucleolus and defines a non-nucleolar compartment containing 5.8S rRNA. Under oxidative stress, SGNP nucleolar localization decreases and it rapidly co-localizes with stress granules., [RefSeq, PubMed]; Spermatogenesis associated serine rich 2 like plays a prognostic factor and therapeutic target in acute myeloid leukemia by regulating the JAK2/STAT3/STAT5 axis. Publication Status: Online-Only, [RefSeq, PubMed]; While controlling for clinical determinants, in acute asthma therapy response, SNP rs295137 in SPATS2L (OR = 1.77, 95%CI: 1.17, 2.68) was significantly associated with increased odds of emergency department (ED) management failure. Two SNPs in IL33 were associated with decreased odds of ED management failure: rs7037276 (OR = 0.55, 95%CI: 0.33, 0.90), and rs1342326 (OR = 0.52, 95%CI: 0.32, 0.86)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "A8K381;B4DRE6;B4DT67;B7WNZ7;Q53T22;Q8WV53;Q8WYG1;Q9NTW4", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005730 nucleolus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0032991 protein-containing complex", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9NUQ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NPR2-1", "uniprot_id": [ { "id": "SEM4B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NPR2", "type": "external" } ], "mass": 92766.0, "length": 837, "protein_name": "Semaphorin-4B", "gene_name": "SEMA4B", "organism": "Human", "refseq_name": "semaphorin-4B isoform 1 precursor", "refseq_ac": [ { "id": "NP_064595", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064595", "type": "external" } ], "gene_names_uniprotkb": "SEMA4B; KIAA1745; PRO1480; SEMAC", "gene_names_refseq": "SEMA4B; SEMAC; SemC", "protein_names_uniprotkb": "Semaphorin-4B; Semaphorin-C", "protein_names_refseq": "sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B; sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4B; semaphorin-4B isoform 1 precursor; semaphorin-C", "tax_id": 9606, "disease": "", "pathway": " (hsa:10509)", "pathway_count": 1, "publication_count": 46, "publication_id_list": "11237011;12975309;15340161;16335952;17081983;18212344;18669648;19651622;19664994;23090970;23186163;24190977;29391424;29493099;29557506;30429286;30459171;30573663;30833945;31154438;31844290;32157095;32350084;32357974;32938616;32983136;33298915;33592498;33633747;33912179;33936100;33968037;33981976;34171305;34185709;34357683;34932366;35051231;35251023;35580925;35676688;36010968;36115854;36215666;36284347;39302247", "class_list": "", "function": "CircSEMA4B inhibits the progression of breast cancer by encoding a novel protein SEMA4B-211aa and regulating AKT phosphorylation. Publication Status: Online-Only, [RefSeq, PubMed]; Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons., [UniProtKB]; Semaphorin 4B promotes tumor progression and associates with immune infiltrates in lung adenocarcinoma. 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": 3, "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": 3, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 10, "disease_count": 0, "glyco_site_count": 8, "binding_glycan_count": 0, "secondary_ac_list": "J3KNP4;Q6UXE3;Q8WVP9;Q96FK5;Q9C0B8;Q9H691;Q9NPM8;Q9NPN0", "ec_number_list": [], "go_molecular_function": "GO:0030215 semaphorin receptor binding;GO:0038191 neuropilin binding;GO:0045499 chemorepellent activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005886 plasma membrane;GO:0098839 postsynaptic density membrane;GO:0016020 membrane", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0071526 semaphorin-plexin signaling pathway;GO:0001755 neural crest cell migration;GO:0050919 negative chemotaxis;GO:0007411 axon guidance", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q9NPR2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51688-1", "uniprot_id": [ { "id": "SPHM_HUMAN", "url": "https://www.uniprot.org/uniprot/P51688", "type": "external" } ], "mass": 56695.0, "length": 502, "protein_name": "N-sulphoglucosamine sulphohydrolase", "gene_name": "SGSH", "organism": "Human", "refseq_name": "N-sulfoglucosamine sulfohydrolase isoform 1 precursor", "refseq_ac": [ { "id": "NP_000190", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000190", "type": "external" } ], "gene_names_uniprotkb": "SGSH; HSS", "gene_names_refseq": "HSS; MPS3A; SFMD; SGSH", "protein_names_uniprotkb": "N-sulphoglucosamine sulphohydrolase; 3.10.1.1; Sulfoglucosamine sulfamidase; Sulphamidase", "protein_names_refseq": "N-sulfoglucosamine sulfohydrolase isoform 1 precursor; heparan sulfate sulfatase; mucopolysaccharidosis type IIIA; sulfoglucosamine sulfamidase; sulphamidase", "tax_id": 9606, "disease": "mucopolysaccharidosis type IIIA (Disease Ontology:DOID:0111395); mucopolysaccharidosis III (Disease Ontology:DOID:12801)", "pathway": " (hsa:6448); (R-HSA-2024096); (R-HSA-2206307)", "pathway_count": 3, "publication_count": 89, "publication_id_list": "10.1101/2023.09.13.557529;10446189;10466419;10521831;11027606;11182930;11237011;11343308;11793481;12000360;12213822;12441129;12702166;12754519;12927802;15146460;15637719;15647514;15902564;16151907;16311287;16960811;17033958;17128482;18407553;19159218;1946389;20560209;20560210;20576607;20650889;21061399;2122463;21671382;24190977;24715725;24816101;25576301;25880248;26331342;27590925;27846572;27920218;28101780;28228285;28832583;29242379;29557506;29632711;29741879;29769354;29789417;30006231;30192525;31844290;31848261;31998317;32157095;32161166;32350084;32357974;32938616;32983136;33141586;33298915;33912179;33936100;33968037;34087483;34171305;34185709;35051231;35154160;35251023;35580925;36241641;36284347;37074911;37340703;38665916;40596516;7493035;8776591;9158154;9285796;9401012;9554748;9700599;9744479", "class_list": "glycogene", "function": "CSF enzyme activity levels for either SGSH (in MPS IIIA subjects) or NAGLU (in MPS IIIB) significantly differed from normal controls. Several other behavioral or functional measures were found to be uninformative in this population, including timed functional motor tests., [RefSeq, PubMed]; Catalyzes a step in lysosomal heparan sulfate degradation., [UniProtKB, PubMed, PubMed, PubMed]; Sulfamidase activity in 238 random newborns was well elevated compared to the range of activities measured in dried blood spots from 8 patients previously confirmed to have mucopolysaccharidosis III-A., [RefSeq, PubMed]; This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]., [RefSeq]; We have identified ocular features of a patient with Sanfilippo syndrome type IIIA harboring a novel SGHS mutation that were not previously known to occur in this disease - namely, a progressive retinopathy with distinctive features, cystic macular changes responsive to carbonic anhydrase inhibitors, and complex electroretinographic abnormalities consistent with postreceptoral dysfunction., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 5, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 5, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 5, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 843, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 12, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K5E2", "ec_number_list": [ { "id": "3.10.1.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.10.1.1", "type": "external" } ], "go_molecular_function": "GO:0016250 N-sulfoglucosamine sulfohydrolase activity;GO:0046872 metal ion binding;GO:0008484 sulfuric ester hydrolase activity;GO:0016787 hydrolase activity", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0005764 lysosome;GO:0043202 lysosomal lumen", "go_biological_process": "GO:0006027 glycosaminoglycan catabolic process;GO:0030200 heparan sulfate proteoglycan catabolic process", "synthesized_glycan_count": 0, "hit_score": 10.8, "record_id": "P51688-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000000.100.10000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92854-1", "uniprot_id": [ { "id": "SEM4D_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92854", "type": "external" } ], "mass": 96150.0, "length": 862, "protein_name": "Semaphorin-4D", "gene_name": "SEMA4D", "organism": "Human", "refseq_name": "semaphorin-4D isoform 2 precursor", "refseq_ac": [ { "id": "NP_001135759", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001135759", "type": "external" } ], "gene_names_uniprotkb": "SEMA4D; C9orf164; CD100; SEMAJ", "gene_names_refseq": "A8; BB18; C9orf164; CD100; COLL4; GR3; M-sema-G; SEMA4D; SEMAJ; coll-4", "protein_names_uniprotkb": "Semaphorin-4D; A8; BB18; GR3", "protein_names_refseq": "sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D; sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, 4D; semaphorin-4D isoform 2 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:10507); (R-HSA-416550); (R-HSA-416572); (R-HSA-416700)", "pathway_count": 4, "publication_count": 104, "publication_id_list": "10.1038/emboj.2013.79;10.1074/mcp.M114.046862;10.1101/2023.09.13.557529;10520995;10648410;10652353;11018042;11035813;11114375;11237011;11937491;12185584;12196628;12198496;12220504;12730235;12882840;12958590;15210733;15218527;15550623;16055703;16188938;16219803;16263699;16702230;16715077;16799460;17081983;17151359;17318185;18025083;18507432;19349973;19788569;20877282;22299025;23090970;23186163;23584533;24190977;25418920;25502872;25813380;27920218;28228285;28467828;28832583;28871256;29242379;29314611;29391424;29557506;29632711;2966156;29741879;29774024;30315122;30410026;30429286;30459171;30573663;30626607;31154438;31611695;31844290;32162841;32350084;32357974;32502341;32574038;32983136;33043033;33091337;33298915;33392160;33592498;33912179;33936100;33968037;34357683;34433824;34742300;34932366;35051231;35132862;35154160;35251023;35561310;35705054;36215666;36257402;37074911;37217939;37395011;37846733;38097864;3839510;39443302;40307207;40914422;8702756;8876214;8955171", "class_list": "", "function": "Cell surface receptor for PLXNB1 and PLXNB2 that plays an important role in cell-cell signaling (PubMed:20877282). Regulates GABAergic synapse development (By similarity). Promotes the development of inhibitory synapses in a PLXNB1-dependent manner (By similarity). Modulates the complexity and arborization of developing neurites in hippocampal neurons by activating PLXNB1 and interaction with PLXNB1 mediates activation of RHOA (PubMed:19788569). Promotes the migration of cerebellar granule cells (PubMed:16055703). Plays a role in the immune system; induces B-cells to aggregate and improves their viability (in vitro) (PubMed:8876214). Induces endothelial cell migration through the activation of PTK2B/PYK2, SRC, and the phosphatidylinositol 3-kinase-AKT pathway (PubMed:16055703)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed]; Comparative evaluation of semaphorin-4D, peptidylarginine deiminase-2, and matrix metalloproteinase-8 levels of gingival crevicular fluid in periodontally healthy and Stage III periodontitis smoker and non-smoker patients before and after non-surgical periodontal therapy., [RefSeq, PubMed]; PLXNB1/SEMA4D signals mediate interactions between malignant epithelial and immune cells to promote colorectal cancer liver metastasis., [RefSeq, PubMed]; Protection of Barrier Function in Cultured Human Corneal Epithelial Cells by Semaphorin 4D., [RefSeq, PubMed]; Sema4D as a biomarker for Predicting rheumatoid arthritis disease activity., [RefSeq, PubMed]; The Potential Immunomodulatory Roles of Semaphorin 4D in Human Periapical Lesions., [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": 8, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 5, "reported_o_glycosites_with_glycan": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 8, "total_reported_o_glycosites": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 8, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 5, "reported_glycation": 0, "reported_snv": 48, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 41, "disease_count": 0, "glyco_site_count": 25, "binding_glycan_count": 0, "secondary_ac_list": "B2RPM6;Q7Z5S4;Q8N8B0", "ec_number_list": [], "go_molecular_function": "GO:0004888 transmembrane signaling receptor activity;GO:0005102 signaling receptor binding;GO:0030215 semaphorin receptor binding;GO:0042802 identical protein binding;GO:0038191 neuropilin binding", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0002116 semaphorin receptor complex;GO:0005615 extracellular space;GO:0005886 plasma membrane;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0031344 regulation of cell projection organization;GO:0043931 ossification involved in bone maturation;GO:0061430 bone trabecula morphogenesis;GO:0070486 leukocyte aggregation;GO:0000122 negative regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 16.8, "record_id": "Q92854-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q04726-1", "uniprot_id": [ { "id": "TLE3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q04726", "type": "external" } ], "mass": 83417.0, "length": 772, "protein_name": "Transducin-like enhancer protein 3", "gene_name": "TLE3", "organism": "Human", "refseq_name": "transducin-like enhancer protein 3 isoform b", "refseq_ac": [ { "id": "NP_001098662", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001098662", "type": "external" } ], "gene_names_uniprotkb": "TLE3; KIAA1547", "gene_names_refseq": "ESG3; ESG; GRG3; HsT18976; TLE3", "protein_names_uniprotkb": "Transducin-like enhancer protein 3; ESG3; Enhancer of split groucho-like protein 3", "protein_names_refseq": "enhancer of split groucho 3; enhancer of split groucho-like protein 3; transducin like enhancer of split 3; transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila); transducin-like enhancer of split 3, homolog of Drosophila E(sp1); transducin-like enhancer protein 3 isoform b; transducin-like enhancer protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:7090); (R-HSA-201722); (R-HSA-3769402); (R-HSA-4641265); (R-HSA-9018519)", "pathway_count": 5, "publication_count": 322, "publication_id_list": "10080941;10203015;10375506;10485845;10500157;10549281;10559189;10748198;10769018;10775268;10828826;10831834;10873660;10898789;10919662;10921920;10944533;11010967;11034064;11050151;11080158;11103799;11136970;11136974;11165043;11237011;11266540;11290324;11345900;11410592;11452016;11532957;11581164;11682626;11691915;11713476;11934263;11955446;11973335;11988739;12163411;12408824;12408825;12498683;12612073;12711682;12712206;12959972;1303260;14600025;14631847;14675539;14685266;14695187;15001666;15060161;15121853;15132997;15187083;15276198;15282324;15294866;15302935;15327769;15343269;15345050;15514030;15525529;15768032;15829968;15986123;16005293;16009131;16046058;16087863;16113099;16169192;1630819;16510874;16547505;16630820;16756492;16964243;16980581;17013392;17052462;17081983;17218525;17277772;17287340;17322306;17412698;17425782;17428831;17458864;17463000;17495528;17510434;17637753;17666587;17690249;17698607;17875931;18160704;18187655;18212344;18219272;18220336;18254933;18256232;18273443;18322535;18347063;18358809;18378692;18404694;18452278;18456656;18476782;18491316;18498752;18533032;18573912;18598779;18621708;18669648;18691976;18721877;18762174;18767875;18805503;18819930;19001364;19020303;19047045;19098913;19148484;19274700;19295514;19321454;19364920;19383337;19413330;19415658;19460168;19487454;19493659;19571879;19590513;19608861;19651622;19664994;19664995;19690332;19718048;19928349;19940019;20058876;20068231;20219941;20220130;20405012;20498280;20570965;20682797;21106759;21151129;21406692;21445275;21573489;21654818;21726809;2181374;21835891;21878914;21934649;21940756;22056668;22186018;22190459;22194527;22265404;22304967;22492511;22545144;22617422;22704330;22982193;23145106;23172872;23186163;23192763;23256519;23303788;23403292;23435229;23723241;23906331;24167369;24291232;24371278;24714562;24715725;24735615;24854081;24885040;24973012;24998469;25296600;25365482;25418920;25433557;25542856;25633194;25645385;25663755;25674852;25728767;26056233;26153859;26154972;26204489;26235987;26462610;26479350;26728094;26992070;27062924;27543614;27886276;27893789;28218747;28228285;28446606;28514659;28539435;28689657;28832583;28834231;28904123;2919170;29237092;29242379;29351928;29437277;29557506;30059200;30315122;30410026;3045126;30484775;30620550;31092671;31154438;31217245;31373491;31492838;31844290;31848261;32157095;32161166;32350084;32387766;32574038;3281094;32897882;32938616;32938750;33298915;33592498;33633747;33691108;33717175;33912179;33968037;34087483;34171305;34509645;34551306;34932366;3498214;35051231;35132862;35254053;35318648;35513511;35580925;36284347;36451774;3677090;37302518;37541260;38177411;38838015;39531497;39534244;40307207;7559524;7935485;7937828;8195246;8197458;8365415;8419924;8756721;8757136;8876171;8955148;9118222;9201922;9338790;9388265;9488439;9490669;9611253;9671459;9731700;9751710;9783587;9819412;9843967;9887105", "class_list": "", "function": "Enhancer recruitment of transcription repressors RUNX1 and TLE3 by mis-expressed FOXC1 blocks differentiation in acute myeloid leukemia., [RefSeq, PubMed]; HHEX suppresses advanced thyroid cancer by interacting with TLE3., [RefSeq, PubMed]; High TLE3 expression predicts a favorable response to taxane containing chemotherapy regimens in ovarian carcinoma., [RefSeq, PubMed]; Results demonstrate that different isoforms of TLE genes are commonly transcribed in human tissues and suggest that TLE3 could be involved in prostate cancer development, [RefSeq, PubMed]; The Wnt-pathway corepressor TLE3 interacts with the histone methyltransferase KMT1A to inhibit differentiation in Rhabdomyosarcoma., [RefSeq, PubMed]; This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. 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, Sep 2013]., [RefSeq]; Transcriptional coregulator that binds to a number of transcription factors. Acts as a regulator of adipogenesis both by acting as a corepressor of Wnt signaling and coactivator for PPARG (PubMed:28689657). Inhibits the transcriptional activation mediated by CTNNB1 and TCF family members in Wnt signaling (PubMed:28689657). Promotes diffentiation of white adipocytes by acting as a coactivator for PPARG and preventing the association between PRDM16 and PPARG, thereby preventing browning of white adipocytes (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": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 16, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 16, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 16, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 33, "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": 16, "binding_glycan_count": 0, "secondary_ac_list": "B4DPT0;E9PD64;F8W964;Q6PI57;Q8IVV6;Q8WVR2;Q9HCM5", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0003714 transcription corepressor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005667 transcription regulator complex;GO:0000785 chromatin;GO:1990907 beta-catenin-TCF complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0007165 signal transduction;GO:0050872 white fat cell differentiation;GO:0090090 negative regulation of canonical Wnt signaling pathway;GO:0009887 animal organ morphogenesis", "synthesized_glycan_count": 0, "hit_score": 34.0, "record_id": "Q04726-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60907-1", "uniprot_id": [ { "id": "TBL1X_HUMAN", "url": "https://www.uniprot.org/uniprot/O60907", "type": "external" } ], "mass": 62496.0, "length": 577, "protein_name": "F-box-like/WD repeat-containing protein TBL1X", "gene_name": "TBL1X", "organism": "Human", "refseq_name": "F-box-like/WD repeat-containing protein TBL1X isoform a", "refseq_ac": [ { "id": "NP_001132938", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001132938", "type": "external" } ], "gene_names_uniprotkb": "TBL1X; TBL1", "gene_names_refseq": "CHNG8; EBI; SMAP55; TBL1X; TBL1", "protein_names_uniprotkb": "F-box-like/WD repeat-containing protein TBL1X; SMAP55; Transducin beta-like protein 1X; Transducin-beta-like protein 1, X-linked", "protein_names_refseq": "F-box-like/WD repeat-containing protein TBL1X isoform a; F-box-like/WD repeat-containing protein TBL1X; transducin beta like 1X-linked; transducin beta-like protein 1X; transducin-beta-like protein 1, X-linked", "tax_id": 9606, "disease": "sensory system disease (Disease Ontology:DOID:0050155); congenital nongoitrous hypothyroidism 8 (Disease Ontology:DOID:0111837)", "pathway": " (hsa:6907); (R-HSA-1368108); (R-HSA-1989781); (R-HSA-2122947); (R-HSA-2151201); (R-HSA-2426168); (R-HSA-2644606); (R-HSA-2894862); (R-HSA-3214815); (R-HSA-350054); (R-HSA-381340); (R-HSA-400206); (R-HSA-9022537); (R-HSA-9022692); (R-HSA-9029569); (R-HSA-9609690); (R-HSA-9707564); (R-HSA-9707616); (R-HSA-9841922); (R-HSA-9931509); (R-HSA-9933387); (R-HSA-9976102)", "pathway_count": 22, "publication_count": 384, "publication_id_list": "10075656;10198158;10206645;10330347;10381560;10400691;10412986;10425206;10444591;10449787;10494028;10529898;10558993;10643692;10713164;10713165;10748112;10759542;10777541;10809664;10835357;10858438;10879540;10882063;10882139;10904264;10922406;10926844;10944117;10964718;11006133;11018023;11027271;11044625;11095972;11112321;11149950;11162494;11226238;11237011;11241162;11267664;11330046;11340167;11387216;11389839;11414710;11461910;11500512;11509652;11585921;11604492;11739383;11740940;11742974;11779144;11809803;11872672;11875109;11909966;11931768;12032151;12032298;12050117;12083769;12118000;12130498;12130638;12150943;12177166;12209127;12213831;12354787;12356737;12374742;12374852;12377782;12391150;12406875;12454263;12505311;12511571;12530964;12563009;12582161;12612088;12628926;12724404;12738229;12745923;12764144;12829629;12857923;12969439;1310260;1377680;14672706;14703507;14764426;14980219;15067378;15107403;15130092;15147902;15175654;15273253;15322089;15500444;15546612;15560782;15574878;15635043;15665827;15684387;15760269;15761026;15824097;15829515;15850785;15919796;16079181;16079853;16093323;16140760;16256737;16380219;16476485;16503871;16530044;16530045;16568091;16738328;16751179;16788062;16857194;16890199;16908542;16911507;16972786;17003037;17007889;17011499;17031457;17046689;17114293;17157496;17186944;17211407;17264172;17306620;17401372;17437997;17449569;17646408;17646409;17715127;17761950;17923681;17925399;17980149;17994015;18006707;18037887;18043734;18077452;18094723;18203656;18215119;18288277;18292238;18296446;18343819;18374649;18535146;18540824;18559965;18587630;18654640;18680753;18682402;18719978;18726356;18782758;18824583;18824585;18848529;18931025;19001277;19043829;19088433;19115207;19151708;19172745;19225110;19289416;19331822;19356719;19417006;19481530;19524514;19682613;1968462;19690164;19710360;19710929;1971514;19726682;19820693;19934321;19951946;19968714;20101261;20110263;20138239;20450493;20466882;20466885;20494359;20566875;20581824;20719759;20817722;20855588;20929863;20937905;20972443;21187453;21240272;21310851;21479263;21507939;21587264;21628546;21690215;21889235;22174689;22381047;22427940;22541735;22634312;22673513;23239344;23496987;23519696;23770565;23770587;23790976;24196956;24715725;24943844;2539258;25418920;25576301;26101246;26239616;26572645;26811146;26984517;27071062;2713875;27501258;27603907;27754849;27846572;27880911;28082258;28111073;28411811;28415052;28698372;28832583;28834231;28842423;28869506;29242379;29393594;29437277;29493099;29557506;29632711;29772548;2991279;30360396;30591955;30761409;31154438;31748741;31844290;31848261;31998317;32157095;32354867;32357974;32488085;32695117;32938616;33054136;33298915;33329381;3345742;33592498;33633747;33912179;3427020;3475708;35051231;35132862;35254053;36206873;36215666;36284347;36860195;37356458;39531497;40596516;6094553;7513682;7566092;7567999;7588063;7592729;7629110;7685352;7732023;7799916;7892212;7909540;7981125;8001118;8020941;8060328;8108407;8156598;8325954;8333869;8386511;8402897;8415693;8521497;8521498;8618898;8619637;8622974;8626466;8626488;8643605;8647822;8649374;8663599;8687460;8706692;8770873;8798690;8887638;8970730;8976377;9012850;9062340;9065481;9079689;9099716;9144434;9150135;9171241;9178750;9244301;9286700;9315665;9454824;9462510;9604010;9604939;9620803;9620804;9634533;9651585;9651681;9694793;9744270;9748239;9748295;9790534;9819428;9836620", "class_list": "", "function": "F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units (PubMed:14980219). Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange (PubMed:21240272)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4., [RefSeq, PubMed]; Long noncoding RNA MIAT regulates TP53 ubiquitination and expedites prostate adenocarcinoma progression by recruiting TBL1X., [RefSeq, PubMed]; TBL1X: At the crossroads of transcriptional and posttranscriptional regulation. Review article, [RefSeq, 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 encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008]., [RefSeq]; Transducin beta-like protein 1 controls multiple oncogenic networks in diffuse large B-cell lymphoma. 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": 10, "reported_glycation": 0, "reported_snv": 22, "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": "A8K044;A8K4J7;Q86UY2", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0003714 transcription corepressor activity;GO:0000976 transcription cis-regulatory region binding;GO:0042393 histone binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0017053 transcription repressor complex;GO:0000118 histone deacetylase complex;GO:0072686 mitotic 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:0006508 proteolysis;GO:0045944 positive regulation of transcription by RNA polymerase II", "synthesized_glycan_count": 0, "hit_score": 38.8, "record_id": "O60907-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13591-1", "uniprot_id": [ { "id": "SEM5A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13591", "type": "external" } ], "mass": 120615.0, "length": 1074, "protein_name": "Semaphorin-5A", "gene_name": "SEMA5A", "organism": "Human", "refseq_name": "semaphorin-5A precursor", "refseq_ac": [ { "id": "NP_003957", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003957", "type": "external" } ], "gene_names_uniprotkb": "SEMA5A; SEMAF", "gene_names_refseq": "SEMA5A; SEMAF; semF", "protein_names_uniprotkb": "Semaphorin-5A; Sema F; Semaphorin-F", "protein_names_refseq": "sema F; sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A; semaphorin F; semaphorin-5A precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:9037); (R-HSA-416700); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 4, "publication_count": 43, "publication_id_list": "10520995;10648410;11067851;11114375;11237011;12882840;15218527;15302935;15550623;16464858;16715077;17318185;18720094;19796186;19850054;20696765;21706053;22588082;23090970;23889335;24190977;24715725;25544610;25576301;26637798;27600516;29557506;30429286;31844290;32157095;32488085;33592498;33771090;33801296;35051231;35580925;35835748;36741230;37074911;37164546;37938771;8955171;9464278", "class_list": "", "function": "Bifunctional axonal guidance cue regulated by sulfated proteoglycans; attractive effects result from interactions with heparan sulfate proteoglycans (HSPGs), while the inhibitory effects depend on interactions with chondroitin sulfate proteoglycans (CSPGs) (By similarity). Ligand for receptor PLXNB3. In glioma cells, SEMA5A stimulation of PLXNB3 results in the disassembly of F-actin stress fibers, disruption of focal adhesions and cellular collapse as well as inhibition of cell migration and invasion through ARHGDIA-mediated inactivation of RAC1. May promote angiogenesis by increasing endothelial cell proliferation and migration and inhibiting apoptosis., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Circular RNA circSEMA5A facilitates colorectal cancer development by regulating microRNA-195-5p to target CCNE1 axis., [RefSeq, PubMed]; Plexin-B3 is a functional receptor for semaphorin 5A, [RefSeq, PubMed]; Relationship between disease and disease severity and semaphorin 5A and hemogram level in obsessive-compulsive disorder., [RefSeq, PubMed]; SEMA5A-PLXNB3 Axis Promotes PDAC Liver Metastasis Outgrowth through Enhancing the Warburg Effect. Publication Status: Online-Only, [RefSeq, PubMed]; Semaphorin 5A suppresses ferroptosis through activation of PI3K-AKT-mTOR signaling in rheumatoid arthritis. Erratum:[Cell Death Dis. 2023 Mar 14;14(3):196. doi: 10.1038/s41419-023-05697-0. PMID: 36918551] Publication Status: Online-Only, [RefSeq, PubMed]; The Expression of IL-17, in Chronic Spontaneous Urticaria Is Linked to Semaphorin5A. Publication Status: Online-Only, [RefSeq, PubMed]; This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]., [RefSeq]", "predicted_glycosites": 9, "predicted_n_glycosites": 9, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 2, "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": 2, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 0, "total_c_glycosites": 2, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 85, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 13, "binding_glycan_count": 0, "secondary_ac_list": "D3DTC6;O60408;Q1RLL9", "ec_number_list": [], "go_molecular_function": "GO:0030215 semaphorin receptor binding;GO:0043395 heparan sulfate proteoglycan binding;GO:0045499 chemorepellent activity;GO:0045545 syndecan binding;GO:0035373 chondroitin sulfate proteoglycan binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:2001028 positive regulation of endothelial cell chemotaxis;GO:0021536 diencephalon development;GO:1990256 signal clustering;GO:0007155 cell adhesion;GO:0007162 negative regulation of cell adhesion", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q13591-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1010000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6D0-1", "uniprot_id": [ { "id": "SELK_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6D0", "type": "external" } ], "mass": 10645.0, "length": 94, "protein_name": "Selenoprotein K", "gene_name": "SELENOK", "organism": "Human", "refseq_name": "selenoprotein K", "refseq_ac": [ { "id": "NP_067060", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067060", "type": "external" } ], "gene_names_uniprotkb": "SELENOK; HSPC030; HSPC297; SELK", "gene_names_refseq": "HSPC030; HSPC297; SELENOK; SELK", "protein_names_uniprotkb": "Selenoprotein K; SelK", "protein_names_refseq": "selenoprotein K", "tax_id": 9606, "disease": "", "pathway": " (hsa:58515)", "pathway_count": 1, "publication_count": 38, "publication_id_list": "11237011;12775843;16962588;20692228;21048031;21220695;22016385;25368151;25576301;25645385;26138980;26992070;27645994;27846572;28228285;28832583;28834231;28904123;29242379;29557506;29786170;30315122;30429286;30526872;30779550;31154438;31217245;31844290;32157095;32488085;34185709;35580925;36010968;37023217;37938771;38252317;38320455;39155374", "class_list": "", "function": "Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator), [RefSeq, PubMed]; Required for Ca(2+) flux in immune cells and plays a role in T-cell proliferation and in T-cell and neutrophil migration (By similarity). Involved in endoplasmic reticulum-associated degradation (ERAD) of soluble glycosylated proteins (PubMed:22016385). Required for palmitoylation and cell surface expression of CD36 and involved in macrophage uptake of low-density lipoprotein and in foam cell formation (By similarity). Together with ZDHHC6, required for palmitoylation of ITPR1 in immune cells, leading to regulate ITPR1 stability and function (PubMed:25368151). Plays a role in protection of cells from ER stress-induced apoptosis (PubMed:20692228). Protects cells from oxidative stress when overexpressed in cardiomyocytes (PubMed:16962588)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; SELENOK-dependent CD36 palmitoylation regulates microglial functions and Abeta phagocytosis., [RefSeq, PubMed]; SelK is a novel antioxidant in cardiomyocytes and is related to the regulation of cellular redox balance., [RefSeq, PubMed]; SelK promotes glioblastoma cell proliferation by inhibiting beta-TrCP1 mediated ubiquitin-dependent degradation of CDK4. Publication Status: Online-Only, [RefSeq, PubMed]; Selenium-SelK-GPX4 axis protects nucleus pulposus cells against mechanical overloading-induced ferroptosis and attenuates senescence of intervertebral disc. Publication Status: Online-Only, [RefSeq, PubMed]; Selenoprotein K enhances STING oligomerization to facilitate antiviral response. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the selenoprotein K family. It is a transmembrane protein that is localized in the endoplasmic reticulum (ER), and is involved in ER-associated degradation (ERAD) of misfolded, glycosylated proteins. It also has a role in the protection of cells from ER stress-induced apoptosis. Knockout studies in mice show the importance of this gene in promoting Ca(2+) flux in immune cells and mounting effective immune response. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Pseudogenes of this locus have been identified on chromosomes 6 and 19.[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": 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": "Q8IZQ3;Q9P085", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0006979 response to oxidative stress;GO:0006816 calcium ion transport;GO:0032755 positive regulation of interleukin-6 production;GO:0002230 positive regulation of defense response to virus by host;GO:0032760 positive regulation of tumor necrosis factor production", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "Q9Y6D0-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P23975-1", "uniprot_id": [ { "id": "SC6A2_HUMAN", "url": "https://www.uniprot.org/uniprot/P23975", "type": "external" } ], "mass": 69332.0, "length": 617, "protein_name": "Sodium-dependent noradrenaline transporter", "gene_name": "SLC6A2", "organism": "Human", "refseq_name": "sodium-dependent noradrenaline transporter isoform 2", "refseq_ac": [ { "id": "NP_001034", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001034", "type": "external" } ], "gene_names_uniprotkb": "SLC6A2; NAT1; NET1; SLC6A5", "gene_names_refseq": "NAT1; NET1; NET; SLC6A2; SLC6A5", "protein_names_uniprotkb": "Sodium-dependent noradrenaline transporter; NET; Norepinephrine transporter; Solute carrier family 6 member 2", "protein_names_refseq": "neurotransmitter transporter; norepinephrine transporter; sodium-dependent noradrenaline transporter isoform 2; sodium-dependent noradrenaline transporter; solute carrier family 6 (neurotransmitter transporter), member 2; solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2; solute carrier family 6 member 5", "tax_id": 9606, "disease": "alcohol dependence (Disease Ontology:DOID:0050741); autism spectrum disorder (Disease Ontology:DOID:0060041); classic dopamine transporter deficiency syndrome (Disease Ontology:DOID:0070489); dopamine beta-hydroxylase deficiency (Disease Ontology:DOID:0090145); postural orthostatic tachycardia syndrome (Disease Ontology:DOID:0111154); heart conduction disease (Disease Ontology:DOID:10273); hypertension (Disease Ontology:DOID:10763); attention deficit hyperactivity disorder (Disease Ontology:DOID:1094); neurocirculatory asthenia (Disease Ontology:DOID:11569); depressive disorder (Disease Ontology:DOID:1596); amphetamine abuse (Disease Ontology:DOID:670)", "pathway": " (hsa:6530); (R-HSA-442660); (R-HSA-5619109)", "pathway_count": 3, "publication_count": 43, "publication_id_list": "10446133;10684912;10889531;10973981;11093780;11237011;11343649;11698620;11875370;11897791;12115694;12151341;15286787;15286788;15592994;15632147;16226721;16751771;17502375;17726476;18599538;19413330;2008212;2387399;24714562;29242379;29393594;34932366;35051231;38166870;38750358;39048818;39085602;39143211;39395208;7488042;7651355;7874447;8125921;8183239;8632143;9655936;9845349", "class_list": "", "function": "Dimerization and antidepressant recognition at noradrenaline transporter., [RefSeq, PubMed]; Mediates sodium- and chloride-dependent transport of norepinephrine (also known as noradrenaline), the primary signaling neurotransmitter in the autonomic sympathetic nervous system (PubMed:2008212, PubMed:8125921, PubMed:38750358). Is responsible for norepinephrine re-uptake and clearance from the synaptic cleft, thus playing a crucial role in norepinephrine inactivation and homeostasis (By similarity). Can also mediate sodium- and chloride-dependent transport of dopamine (PubMed:11093780, PubMed:8125921, PubMed:39395208, PubMed:39048818)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Molecular basis of human noradrenaline transporter reuptake and inhibition., [RefSeq, PubMed]; Relationship between SLC6A2 gene polymorphisms and brain volume in Han Chinese adults who lost their sole child. Publication Status: Online-Only, [RefSeq, PubMed]; Substrate binding and inhibition mechanism of norepinephrine transporter., [RefSeq, PubMed]; This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]., [RefSeq]; Transport and inhibition mechanisms of the human noradrenaline transporter., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 1, "reported_mutagensis": 24, "reported_glycation": 0, "reported_snv": 24, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 11, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2R707;B4DX48;Q96KH8", "ec_number_list": [], "go_molecular_function": "GO:0005326 neurotransmitter transmembrane transporter activity;GO:0005328 neurotransmitter:sodium symporter activity;GO:0005334 norepinephrine:sodium symporter activity;GO:0003779 actin binding;GO:0046872 metal ion binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0016020 membrane;GO:0030424 axon;GO:0030672 synaptic vesicle membrane", "go_biological_process": "GO:0015844 monoamine transport;GO:0070050 neuron cellular homeostasis;GO:0007268 chemical synaptic transmission;GO:0006865 amino acid transport;GO:0035725 sodium ion transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P23975-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35498-1", "uniprot_id": [ { "id": "SCN1A_HUMAN", "url": "https://www.uniprot.org/uniprot/P35498", "type": "external" } ], "mass": 228972.0, "length": 2009, "protein_name": "Sodium channel protein type 1 subunit alpha", "gene_name": "SCN1A", "organism": "Human", "refseq_name": "sodium channel protein type 1 subunit alpha isoform 1", "refseq_ac": [ { "id": "NP_001159435", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159435", "type": "external" } ], "gene_names_uniprotkb": "SCN1A; NAC1; SCN1", "gene_names_refseq": "DEE6A; DEE6B; DEE6; DRVT; EIEE6; FEB3A; FEB3; FHM3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1A; SCN1; SMEI", "protein_names_uniprotkb": "Sodium channel protein type 1 subunit alpha; Sodium channel protein brain I subunit alpha; Sodium channel protein type I subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.1", "protein_names_refseq": "sodium channel protein type 1 subunit alpha isoform 1; sodium channel protein type 1 subunit alpha; sodium channel protein type I subunit alpha; sodium channel protein, brain I alpha subunit; sodium channel voltage gated type 1 alpha subunit; sodium channel, voltage-gated, type I, alpha polypeptide; sodium channel, voltage-gated, type I, alpha subunit; voltage-gated sodium channel subunit alpha Nav1.1", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); generalized epilepsy with febrile seizures plus (Disease Ontology:DOID:0060170); developmental and epileptic encephalopathy 6B (Disease Ontology:DOID:0070379); Dravet syndrome (Disease Ontology:DOID:0080422); familial hemiplegic migraine 3 (Disease Ontology:DOID:0111183); generalized epilepsy with febrile seizures plus 2 (Disease Ontology:DOID:0111294); epilepsy (Disease Ontology:DOID:1826); anxiety disorder (Disease Ontology:DOID:2030)", "pathway": " (hsa:6323); (R-HSA-445095); (R-HSA-5576892)", "pathway_count": 3, "publication_count": 133, "publication_id_list": "10742094;11222639;11237011;11254444;11254445;11290418;11359211;11524484;11756608;12083760;12086636;12535936;12566275;12576172;12610651;12754708;12821740;12919402;1309946;1317301;14500339;14504318;14672992;14738421;15000524;15087100;15277629;15525788;15694566;15715999;15880351;15944908;16054936;16122630;16210358;16326807;16458823;16525050;16597699;16713920;16904324;17054684;17054685;17129991;17223356;17347258;17397047;17507202;17537961;17561957;17679682;17927801;17928445;18021921;18031552;18184654;18251839;18330841;18413471;18566737;18639757;18930999;19332696;19339291;19406745;19464195;19522081;19563458;19589774;19694741;19783390;20110217;20117752;20392657;20431604;20452746;20522430;20550552;20600615;20682179;20729507;21127204;21248271;21555645;21566136;21719429;21753172;21817159;21864321;22054663;22092154;22299025;22309220;22514276;22612257;23195492;23647072;23662938;23708187;23804213;24497506;24776920;25818041;26311622;26637798;26993267;27864847;28428547;28544625;28794249;29393594;29557506;29786170;30142967;30500825;31154438;31844290;32387766;32488085;32938616;33712547;33968037;34211107;35051231;36284347;36977636;37117223;37217939;37938771;38339022;39336815;8062593;8107964", "class_list": "", "function": "Association of SCN1A Polymorphisms rs3812718 and rs2298771 with Epilepsy. Publication Status: Online-Only, [RefSeq, PubMed]; Epilepsy related mutations Review article, [RefSeq, PubMed]; Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Mutations in the pore regions may produce more severe channel dysfunction, including activation/inactivation dysfunction or abnormal voltage dependency, than those in other transmembrane regions, resulting in a more severe epilepsy phenotype. Review article, [RefSeq, PubMed]; Nav1.1 plays a critical role in the spike output from parvalbumin-positive interneurons and contributes to epileptic seizures in mice., [RefSeq, PubMed]; Pore-forming subunit of Nav1.1, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na(+) ions provokes membrane depolarization, initiating the propagation of electrical signals throughout cells and tissues (PubMed:14672992). By regulating the excitability of neurons, ensures that they respond appropriately to synaptic inputs, maintaining the balance between excitation and inhibition in brain neural circuits (By similarity). Nav1.1 plays a role in controlling the excitability and action potential propagation from somatosensory neurons, thereby contributing to the sensory perception of mechanically-induced pain (By similarity)., [UniProtKB, UniProtKB, PubMed]; The effects of three mutations in SCN1A have been characterized in cultured mammalian cells as a gain-of-function abnormality causing prolonged membrane depolarization, a plausible underlying biophysical mechanism responsible for inherited epilepsy., [RefSeq, PubMed]; Voltage-dependent sodium channels are heteromeric complexes that regulate sodium exchange between intracellular and extracellular spaces and are essential for the generation and propagation of action potentials in muscle cells and neurons. Each sodium channel is composed of a large pore-forming, glycosylated alpha subunit and two smaller beta subunits. This gene encodes a sodium channel alpha subunit, which has four homologous domains, each of which contains six transmembrane regions. Allelic variants of this gene are associated with generalized epilepsy with febrile seizures and epileptic encephalopathy. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript. [provided by RefSeq, Oct 2015]., [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": 4, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "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": 11, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 117, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 8, "glyco_site_count": 9, "binding_glycan_count": 0, "secondary_ac_list": "E9PG49;Q16172;Q585T7;Q8IUJ6;Q96LA3;Q9C008", "ec_number_list": [ { "id": "1.8.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.8.-.-", "type": "external" } ], "go_molecular_function": "GO:0005248 voltage-gated sodium channel activity;GO:0099508 voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential;GO:0005261 monoatomic cation channel activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043025 neuronal cell body;GO:0014704 intercalated disc;GO:0030018 Z disc;GO:0030315 T-tubule", "go_biological_process": "GO:0086010 membrane depolarization during action potential;GO:0050966 detection of mechanical stimulus involved in sensory perception of pain;GO:0035725 sodium ion transmembrane transport;GO:0006814 sodium ion transport;GO:0086002 cardiac muscle cell action potential involved in contraction", "synthesized_glycan_count": 0, "hit_score": 14.0, "record_id": "P35498-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.1100000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13214-1", "uniprot_id": [ { "id": "SEM3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13214", "type": "external" } ], "mass": 83122.0, "length": 749, "protein_name": "Semaphorin-3B", "gene_name": "SEMA3B", "organism": "Human", "refseq_name": "semaphorin-3B isoform 2 precursor", "refseq_ac": [ { "id": "NP_001005914", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001005914", "type": "external" } ], "gene_names_uniprotkb": "SEMA3B; SEMA5; SEMAA", "gene_names_refseq": "LUCA-1; SEMA3B; SEMA5; SEMAA; SemA; semaV", "protein_names_uniprotkb": "Semaphorin-3B; Sema A(V); Sema V; Semaphorin-V", "protein_names_refseq": "sema A(V); sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B; semaphorin A; semaphorin-3B isoform 2 precursor; semaphorin-V", "tax_id": 9606, "disease": "substance abuse (Disease Ontology:DOID:302)", "pathway": " (hsa:7869)", "pathway_count": 1, "publication_count": 24, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11085536;11237011;11809707;15831529;23584533;25576301;29393594;30429286;32157095;32534052;33392160;33592498;33968037;34078123;35001548;35051231;35580925;36241641;38283352;38646784;39894887;8633026", "class_list": "", "function": "Central Role of Semaphorin 3B in a Serum-Induced Arthritis Model and Reduced Levels in Patients With Rheumatoid Arthritis., [RefSeq, PubMed]; Human Semaphorin 3B (SEMA3B) located at chromosome 3p21.3 suppresses tumor formation in an adenocarcinoma cell line., [RefSeq, PubMed]; Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons., [UniProtKB, UniProtKB, UniProtKB]; SEMA3B inhibits TGFbeta-induced extracellular matrix protein production and its reduced levels are associated with a decline in lung function in IPF., [RefSeq, PubMed]; Semaphorin 3B-associated membranous nephropathy is a distinct type of disease predominantly present in pediatric patients., [RefSeq, PubMed]; Semaphorin3B promotes an anti-inflammatory and pro-resolving phenotype in macrophages from rheumatoid arthritis patients in a MerTK-dependent manner. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene belongs to the class-3 semaphorin/collapsin family, whose members function in growth cone guidance during neuronal development. This family member inhibits axonal extension and has been shown to act as a tumor suppressor by inducing apoptosis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 2, "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": 1, "glyco_site_count": 5, "binding_glycan_count": 0, "secondary_ac_list": "Q6GU46;Q8TB71;Q8TDV7;Q93018;Q96GX0", "ec_number_list": [], "go_molecular_function": "GO:0030215 semaphorin receptor binding;GO:0038191 neuropilin binding;GO:0045499 chemorepellent activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007267 cell-cell signaling;GO:0030335 positive regulation of cell migration;GO:0071526 semaphorin-plexin signaling pathway;GO:0001755 neural crest cell migration;GO:0050919 negative chemotaxis", "synthesized_glycan_count": 0, "hit_score": 3.3, "record_id": "Q13214-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q13530-1", "uniprot_id": [ { "id": "SERC3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q13530", "type": "external" } ], "mass": 52580.0, "length": 473, "protein_name": "Serine incorporator 3", "gene_name": "SERINC3", "organism": "Human", "refseq_name": "serine incorporator 3", "refseq_ac": [ { "id": "NP_006802", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006802", "type": "external" } ], "gene_names_uniprotkb": "SERINC3; DIFF33; SBBI99; TDE1", "gene_names_refseq": "AIGP1; DIFF33; SBBI99; SERINC3; TDE1; TDE; TMS-1", "protein_names_uniprotkb": "Serine incorporator 3; Tumor differentially expressed protein 1", "protein_names_refseq": "serine incorporator 3; tumor differentially expressed protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:10955); (R-HSA-977347)", "pathway_count": 2, "publication_count": 73, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;10559794;11054547;11237011;12393813;12633500;15193426;15536068;16120614;16547497;16580895;18342636;18578522;19235232;20106978;23481700;23584533;25645385;26416733;26416734;26703715;26992070;28218747;28832583;28834231;28855257;28904123;29242379;29314611;29557506;29632711;29769354;30315122;30410026;30429286;30459171;30833945;31020640;31154438;31186327;31530632;31611695;31844290;31848261;32157095;32350084;32357974;32788212;32897882;32938616;32983136;33141586;33392160;33592498;33936100;33968037;33981976;34078123;34087483;34171305;34185709;34357683;34932366;35051231;35154160;35251023;35254053;35561310;35580925;36010968;37474505;9188776", "class_list": "", "function": "HIV-cell membrane fusion intermediates are restricted by Serincs as revealed by cryo-electron and TIRF microscopy., [RefSeq, PubMed]; In MOLT-3 cells, Nef remained crucial for HIV-1 replication even in the absence of SERINC3 and SERINC5. Publication Status: Online-Only, [RefSeq, PubMed]; Restriction factor required to restrict infectivity of lentiviruses, such as HIV-1: acts by inhibiting an early step of viral infection. Impairs the penetration of the viral particle into the cytoplasm (PubMed:26416733, PubMed:26416734). Non-ATP-dependent, non-specific lipid transporter for phosphatidylserine, phosphatidylcholine, and phosphatidylethanolamine. Functions as a scramblase that flips lipids in both directions across the membrane. Phospholipid scrambling results in HIV-1 surface exposure of phosphatidylserine and loss of membrane asymmetry, which leads to changes in HIV-1 Env conformation and loss of infectivity (PubMed:37474505)., [UniProtKB, PubMed, PubMed, PubMed]; TDE1 inhibits apoptosis and stimulates tumorigenesis, [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 1, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 1, "reported_o_glycosites_with_glycan": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 2, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 16, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 4, "disease_count": 0, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "B4DUE9;O43717;Q9BR33", "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:0140104 molecular carrier activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0017121 plasma membrane phospholipid scrambling;GO:0006563 L-serine metabolic process;GO:0140374 antiviral innate immune response", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "Q13530-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000011001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5TG53-1", "uniprot_id": [ { "id": "SEAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5TG53", "type": "external" } ], "mass": 16212.0, "length": 156, "protein_name": "Putative uncharacterized protein SERTAD4-AS1", "gene_name": "SERTAD4-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SERTAD4-AS1; C1orf133", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein SERTAD4-AS1; SERTAD4 antisense RNA 1; SERTAD4 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "34087483;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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q5TG53-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6UWP8-1", "uniprot_id": [ { "id": "SBSN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6UWP8", "type": "external" } ], "mass": 60541.0, "length": 590, "protein_name": "Suprabasin", "gene_name": "SBSN", "organism": "Human", "refseq_name": "suprabasin isoform 1 precursor", "refseq_ac": [ { "id": "NP_001159506", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001159506", "type": "external" } ], "gene_names_uniprotkb": "SBSN; PRO1343", "gene_names_refseq": "SBSN; UNQ698", "protein_names_uniprotkb": "Suprabasin", "protein_names_refseq": "HLAR698; suprabasin isoform 1 precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:374897); (R-HSA-9725554)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10.1038/emboj.2013.79;11237011;12067728;12228223;12624109;12975309;15140226;15234001;15556625;15675955;15780751;16297201;17330888;19924134;22735594;23283814;23584533;23629652;24715725;24794495;25576301;26340985;26374642;26375851;27452731;28489076;28649982;29242379;29314611;29393594;29786170;30397120;30524438;30620550;30833945;30905808;31092671;31154438;31222486;31399284;31611695;32157095;32350084;32488085;32696549;32938616;32983136;33043033;33477529;33592498;33912179;34087483;34171305;34725712;34775572;35051231;35561310;35580925;36316443;37217939;37938771;40596516", "class_list": "", "function": "Aberrantly elevated suprabasin in the bone marrow as a candidate biomarker of advanced disease state in myelodysplastic syndromes., [RefSeq, PubMed]; Extracellular vesicles-transferred SBSN drives glioma aggressiveness by activating NF-kappaB via ANXA1-dependent ubiquitination of NEMO., [RefSeq, PubMed]; Suprabasin-A Review. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Suprabasin: Role in human cancers and other diseases. 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": 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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 26, "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": "A8K5J0;E9PBV3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0070062 extracellular exosome", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.8, "record_id": "Q6UWP8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8IVN8-1", "uniprot_id": [ { "id": "SBSPO_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8IVN8", "type": "external" } ], "mass": 29610.0, "length": 264, "protein_name": "Somatomedin-B and thrombospondin type-1 domain-containing protein", "gene_name": "SBSPON", "organism": "Human", "refseq_name": "somatomedin-B and thrombospondin type-1 domain-containing protein precursor", "refseq_ac": [ { "id": "NP_694957", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_694957", "type": "external" } ], "gene_names_uniprotkb": "SBSPON; C8orf84; RPESP", "gene_names_refseq": "C8orf84; RPESP; SBSPON", "protein_names_uniprotkb": "Somatomedin-B and thrombospondin type-1 domain-containing protein; RPE-spondin", "protein_names_refseq": "RPE-spondin; somatomedin-B and thrombospondin type-1 domain-containing protein precursor; somatomedin-B and thrombospondin type-1 domain-containing protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:157869); (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 3, "publication_count": 17, "publication_id_list": "10.1101/2023.09.13.557529;11067851;12107410;16464858;18720094;19796186;20551380;22588082;23090970;23889335;24190977;25544610;28781692;29557506;29741879;32502341;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": 1, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 1, "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": 1, "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": 8836, "biomarker_type": "", "glycan_count": 44, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A8KAA5;Q96J64", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0031012 extracellular matrix", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q8IVN8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000001000000.110.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N695-1", "uniprot_id": [ { "id": "SC5A8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N695", "type": "external" } ], "mass": 66578.0, "length": 610, "protein_name": "Sodium-coupled monocarboxylate transporter 1", "gene_name": "SLC5A8", "organism": "Human", "refseq_name": "sodium-coupled monocarboxylate transporter 1", "refseq_ac": [ { "id": "NP_666018", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_666018", "type": "external" } ], "gene_names_uniprotkb": "SLC5A8; AIT; SMCT1; SMCT", "gene_names_refseq": "AIT; SLC5A8; SMCT1; SMCT", "protein_names_uniprotkb": "Sodium-coupled monocarboxylate transporter 1; Apical iodide transporter; Electrogenic sodium monocarboxylate cotransporter; Sodium iodide-related cotransporter; Solute carrier family 5 member 8", "protein_names_refseq": "apical iodide transporter; electrogenic sodium monocarboxylate cotransporter; sodium iodide-related cotransporter; sodium-coupled monocarboxylate transporter 1; solute carrier family 5 (iodide transporter), member 8; solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8", "tax_id": 9606, "disease": "", "pathway": " (hsa:160728); (R-HSA-196807); (R-HSA-428643); (R-HSA-9958790)", "pathway_count": 4, "publication_count": 98, "publication_id_list": "10331643;10585886;10613898;11248244;11594753;11788603;11866528;11945784;11946196;11991719;12107270;12359228;1252077;12547821;12574164;12790796;12829793;13563527;14516279;14966140;15001644;15090606;15137942;15361710;15381699;15674325;15867356;16118205;1637327;16690024;16729224;16805814;16920706;17178845;17245649;17402747;17526579;17604275;17641676;17692818;17868694;17914902;18037591;18411268;19531469;19787704;19864324;20058876;20211600;20388704;2129526;21504897;21699903;21933152;21994945;22701565;22822066;23212377;23230272;23393310;24717514;24847004;25531177;26870663;29031613;29211846;29557506;30459171;30604288;32906142;33087354;33392160;34020084;34231393;34357683;34520823;34880492;34964946;35051231;35728586;38007446;38287802;38650461;4349867;4687397;4716993;4719206;4745729;7470147;8182091;8289818;8527488;8575745;8597574;8806637;8809081;9171822;9473669", "class_list": "", "function": "Acts as an electrogenic sodium (Na(+)) and chloride (Cl-)-dependent sodium-coupled solute transporter, including transport of monocarboxylates (short-chain fatty acids including L-lactate, D-lactate, pyruvate, acetate, propionate, valerate and butyrate), mocarboxylate drugs (nicotinate, benzoate, salicylate and 5-aminosalicylate) and ketone bodies (beta-D-hydroxybutyrate, acetoacetate and alpha-ketoisocaproate), with a Na(+):substrate stoichiometry of between 4:1 and 2:1 (PubMed:14966140, PubMed:15090606, PubMed:16729224, PubMed:16805814, PubMed:17178845, PubMed:17245649, PubMed:17526579, PubMed:20211600, PubMed:30604288). Catalyzes passive carrier mediated diffusion of iodide (PubMed:12107270). Mediates iodide transport from the thyrocyte into the colloid lumen through the apical membrane (PubMed:12107270). May be responsible for the absorption of D-lactate and monocarboxylate drugs from the intestinal tract (PubMed:17245649). Acts as a tumor suppressor, suppressing colony formation in colon cancer, prostate cancer and glioma cell lines (PubMed:12829793, PubMed:15867356, PubMed:18037591). May play a critical role in the entry of L-lactate and ketone bodies into neurons by a process driven by an electrochemical Na(+) gradient and hence contribute to the maintenance of the energy status and function of neurons (PubMed:16805814). Mediates sodium-coupled electrogenic transport of pyroglutamate (5-oxo-L-proline) (PubMed:20211600). Can mediate the transport of chloride, bromide, iodide and nitrate ions when the external concentration of sodium ions is reduced (PubMed:19864324). Part of D-serine transport systems. May contribute to D-serine reabsorption at the brush border of renal proximal tubules thus modulating the dynamics of urinary versus blood D-serine levels., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Functional identity of SLC5A8 as a Na(+)-coupled transporter for short-chain fatty acids., [RefSeq, PubMed]; In thyroid carcinomas, the mean and median hAIT mRNA levels were significantly decreased, [RefSeq, PubMed]; Lactobacillus plantarum-derived metabolites sensitize the tumor-suppressive effects of butyrate by regulating the functional expression of SMCT1 in 5-FU-resistant colorectal cancer cells., [RefSeq, PubMed]; MiR-29a, b, and c regulate SLC5A8 expression in intestinal epithelial cells., [RefSeq, PubMed]; Role of SLC5A8 as a Tumor Suppressor in Cervical Cancer., [RefSeq, PubMed]; Role of hypermethylated SLC5A8 in follicular thyroid cancer diagnosis and prognosis prediction. Publication Status: Online-Only, [RefSeq, PubMed]; SLC5A8 exon 1 methylation is an early event, detectable in colon adenomas & microscopic aberrant crypt foci. SLC5A8 is a member of the family of sodium solute symporters, now added to the candidate colon cancer suppressor genes., [RefSeq, PubMed]; SLC5A8 has been shown to transport iodide by a passive mechanism (Rodriguez et al., 2002 [PubMed 12107270]) and monocarboxylates and short-chain fatty acids by a sodium-coupled mechanism (Gopal et al., 2004 [PubMed 15322102]). In kidney, SLC5A8 functions as a high-affinity sodium-coupled lactate transporter involved in reabsorption of lactate and maintenance of blood lactate levels (Thangaraju et al., 2006 [PubMed 16873376]).[supplied by OMIM, Dec 2008]., [RefSeq]; Structure and mechanism of the SGLT family of glucose transporters., [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": 3, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 3, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 3, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 2, "reported_glycation": 0, "reported_snv": 27, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 3, "disease_count": 0, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "Q2TB99;Q7Z2H9", "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:0090416 nicotinate transmembrane transporter activity;GO:0008028 monocarboxylic acid transmembrane transporter activity;GO:0005343 organic acid:sodium symporter activity;GO:0015129 lactate transmembrane transporter activity;GO:0015552 propionate transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome;GO:0016324 apical plasma membrane;GO:0000811 GINS complex", "go_biological_process": "GO:0055085 transmembrane transport;GO:0006915 apoptotic process;GO:0015711 organic anion transport;GO:0006821 chloride transport;GO:0015705 iodide transport", "synthesized_glycan_count": 0, "hit_score": 10.5, "record_id": "Q8N695-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NE22-1", "uniprot_id": [ { "id": "SETD9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NE22", "type": "external" } ], "mass": 34095.0, "length": 299, "protein_name": "SET domain-containing protein 9", "gene_name": "SETD9", "organism": "Human", "refseq_name": "SET domain-containing protein 9 isoform 2", "refseq_ac": [ { "id": "NP_001165461", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001165461", "type": "external" } ], "gene_names_uniprotkb": "SETD9; C5orf35", "gene_names_refseq": "C5orf35; SETD9", "protein_names_uniprotkb": "SET domain-containing protein 9; 2.1.1.-", "protein_names_refseq": "SET domain-containing protein 9 isoform 2; SET domain-containing protein 9", "tax_id": 9606, "disease": "", "pathway": " (hsa:133383); (R-HSA-6804760)", "pathway_count": 2, "publication_count": 22, "publication_id_list": "10518217;11237011;11511361;15448695;15525938;16415881;17108971;17170761;17707234;18833288;19011621;20118233;20870725;21625555;22362889;25892735;26992070;28029147;31844290;32157095;34171305;36241641", "class_list": "", "function": "SNP variants at the MAP3K1/SETD9 gene boundary associate with somatic PIK3CA variants in breast cancers., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "F5H713", "ec_number_list": [ { "id": "2.1.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.1.1.-", "type": "external" } ], "go_molecular_function": "GO:0016278 lysine N-methyltransferase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005739 mitochondrion", "go_biological_process": "GO:1901796 regulation of signal transduction by p53 class mediator;GO:0032259 methylation", "synthesized_glycan_count": 0, "hit_score": 2.3, "record_id": "Q8NE22-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WXD2-1", "uniprot_id": [ { "id": "SCG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WXD2", "type": "external" } ], "mass": 53005.0, "length": 468, "protein_name": "Secretogranin-3", "gene_name": "SCG3", "organism": "Human", "refseq_name": "secretogranin-3 isoform 2", "refseq_ac": [ { "id": "NP_001158729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001158729", "type": "external" } ], "gene_names_uniprotkb": "SCG3; PRO5990", "gene_names_refseq": "SCG3; SGIII", "protein_names_uniprotkb": "Secretogranin-3; Secretogranin III; SgIII", "protein_names_refseq": "secretogranin-3 isoform 2; secretogranin-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:29106); (R-HSA-114608); (R-HSA-381426); (R-HSA-8957275)", "pathway_count": 4, "publication_count": 93, "publication_id_list": "10.1038/emboj.2013.79;10026136;10077652;10218588;10512690;10614670;10681634;10810289;10898936;10912521;10951195;10990447;11158056;11237011;11250653;11264294;11316783;11522292;11606061;11739083;11751371;11788658;12098761;12241545;12379487;12466191;12810533;12904166;12975309;1370451;1383255;1435334;14630798;15126567;15297306;15308688;15469690;15485880;15525596;15642270;17047378;17200173;17249697;17312271;17985932;18702456;19357184;23234360;23584533;23640497;2476804;2479552;25326458;26091039;28949141;29154827;29557506;29741879;30078552;30280190;31611695;31844290;32350084;32387766;32928873;33592498;34062733;34257545;35051231;35251023;37074911;6457647;7519608;7523391;7525263;7525634;7525824;7527330;7538844;7543116;7588299;7683646;7689487;8467233;8781553;8817670;8894645;8964575;9497324;9709957;9733769;9786878;9922210", "class_list": "", "function": "Concurrent Physiological and Pathological Angiogenesis in Retinopathy of Prematurity and Emerging Therapies. Review article Publication Status: Online-Only, [RefSeq, PubMed]; Member of the granin protein family that regulates the biogenesis of secretory granules (PubMed:19357184). Acts as a sorting receptor for intragranular proteins including chromogranin A/CHGA (By similarity). May also play a role in angiogenesis. Promotes endothelial proliferation, migration and tube formation through MEK/ERK signaling pathway (PubMed:29154827)., [UniProtKB, PubMed, PubMed, UniProtKB]; Results suggested an association between the fucosylated glycoform of short-form SgIII and Small Cell Lung Carcinoma, [RefSeq, PubMed]; SCG3 Protein Expression in Glioma Associates With less Malignancy and Favorable Clinical Outcomes. Publication Status: Online-Only, [RefSeq, PubMed]; SCG3 may be involved in PQinduced astrocyte activation via regulation of the expression and selective recruitment of cellular factors, thus suggesting that SCG3 may represent an indicator of astrocyte activation., [RefSeq, PubMed]; The protein encoded by this gene is a member of the chromogranin/secretogranin family of neuroendocrine secretory proteins. Granins may serve as precursors for biologically active peptides. Some granins have been shown to function as helper proteins in sorting and proteolytic processing of prohormones; however, the function of this protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 2, "reported_o_glycosites": 4, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 8, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 9, "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": 21, "disease_count": 0, "glyco_site_count": 11, "binding_glycan_count": 0, "secondary_ac_list": "A8K2B0;B3KQP6;B4DK99;F5H3R8;Q96C83;Q96GE8;Q9Y6G7", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005788 endoplasmic reticulum lumen;GO:0034774 secretory granule lumen;GO:0030658 transport vesicle membrane;GO:0030667 secretory granule membrane", "go_biological_process": "GO:0033366 protein localization to secretory granule", "synthesized_glycan_count": 0, "hit_score": 12.6, "record_id": "Q8WXD2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96HN2-1", "uniprot_id": [ { "id": "SAHH3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96HN2", "type": "external" } ], "mass": 66721.0, "length": 611, "protein_name": "S-adenosylhomocysteine hydrolase-like protein 2", "gene_name": "AHCYL2", "organism": "Human", "refseq_name": "adenosylhomocysteinase 3 isoform b", "refseq_ac": [ { "id": "NP_001124192", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124192", "type": "external" } ], "gene_names_uniprotkb": "AHCYL2; KIAA0828", "gene_names_refseq": "ADOHCYASE3; AHCYL2; IRBIT2", "protein_names_uniprotkb": "S-adenosylhomocysteine hydrolase-like protein 2; IP(3)Rs binding protein released with IP(3) 2; IRBIT2; Long-IRBIT", "protein_names_refseq": "IP(3)Rs binding protein released with IP(3) 2; S-adenosyl-L-homocysteine hydrolase 3; S-adenosylhomocysteine hydrolase-like 2; adenosylhomocysteinase -like protein 2; adenosylhomocysteinase 3 isoform b; long-IRBIT; putative adenosylhomocysteinase 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:23382); (R-HSA-425381)", "pathway_count": 2, "publication_count": 71, "publication_id_list": "10347222;10362779;10545938;10978526;11237011;11305939;11788353;16865262;18319254;18669648;19220705;20068231;22223895;23186163;23481700;24029068;24397554;24472682;25576301;25645385;25880248;2594752;26375851;26811146;26992070;27862975;28218747;28228285;28467828;28832583;28834231;28904123;29242379;29393594;29437277;29493099;29557506;29632711;29789417;3015590;30315122;30429286;30779550;30833945;31154438;31217245;31222486;31799605;31844290;31848261;32157095;32161166;32350084;32357974;32502341;32938616;32983136;33298915;33717175;33912179;34185709;35051231;35580925;36010968;7506871;7530501;7923606;8206915;9235899;9312167;9651366", "class_list": "", "function": "Downregulation of KIAA0828 is associated with colon and lung carcinomas, [RefSeq, PubMed]; Regulatory protein that interacts with and modulates the activity of membrane ion transporters, including the sodium-bicarbonate cotransporter SLC4A4, through phosphorylation-dependent binding. Functions as a homolog of AHCYL1 to regulate bicarbonate transport and intracellular pH homeostasis via direct interactions rather than enzymatic activity (By similarity). On the contrary of its homolog AHCYL1, does not regulate ITPR1 sensitivity to inositol 1,4,5-trisphosphate (PubMed:19220705)., [UniProtKB, UniProtKB, PubMed, UniProtKB]; The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 8, "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": "B4DIZ5;D9N155;O94917", "ec_number_list": [ { "id": "3.13.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:3.13.2.1", "type": "external" } ], "go_molecular_function": "GO:0016787 hydrolase activity", "go_cellular_component": "GO:0005829 cytosol;GO:0043005 neuron projection", "go_biological_process": "GO:0006730 one-carbon metabolic process;GO:0033353 S-adenosylmethionine cycle", "synthesized_glycan_count": 0, "hit_score": 7.2, "record_id": "Q96HN2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9GZR1-1", "uniprot_id": [ { "id": "SENP6_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9GZR1", "type": "external" } ], "mass": 126146.0, "length": 1112, "protein_name": "Sentrin-specific protease 6", "gene_name": "SENP6", "organism": "Human", "refseq_name": "sentrin-specific protease 6 isoform 2", "refseq_ac": [ { "id": "NP_001093879", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093879", "type": "external" } ], "gene_names_uniprotkb": "SENP6; FKSG6; KIAA0797; SSP1; SUSP1", "gene_names_refseq": "SENP6; SSP1; SUSP1", "protein_names_uniprotkb": "Sentrin-specific protease 6; 3.4.22.-; SUMO-1-specific protease 1; Sentrin/SUMO-specific protease SENP6", "protein_names_refseq": "2810017C20Rik; SUMO-1-specific protease 1; SUMO1/sentrin specific peptidase 6; SUMO1/sentrin specific protease 6; sentrin-specific protease 6 isoform 2; sentrin-specific protease 6; sentrin/SUMO-specific protease SENP6", "tax_id": 9606, "disease": "", "pathway": " (hsa:26054)", "pathway_count": 1, "publication_count": 72, "publication_id_list": "10.1101/2023.09.13.557529;10799485;10806345;11237011;14563852;15302935;16912044;17000875;17081983;17322306;17704809;18452278;18669648;18799455;19413330;19651622;19664994;20212317;20705237;21148299;21406692;23186163;23301498;24714562;24715725;25418920;25576301;25645385;25892735;26154972;26728094;26811146;26992070;27600516;27846572;27920218;28063628;28228285;28446606;28832583;28834231;28904123;29242379;29393594;29557506;29632046;29769354;29786170;30315122;30429286;30620550;31217245;31844290;31980633;32157095;32387766;32502341;32897882;32938616;32983136;33691108;33717175;33936100;34185709;34561969;35022408;35051231;35580925;36292645;36768878;37217939;38062972", "class_list": "", "function": "Genetic alterations of the SUMO isopeptidase SENP6 drive lymphomagenesis and genetic instability in diffuse large B-cell lymphoma. Publication Status: Online-Only, [RefSeq, PubMed]; Protease that deconjugates SUMO1, SUMO2 and SUMO3 from targeted proteins. Processes preferentially poly-SUMO2 and poly-SUMO3 chains, but does not efficiently process SUMO1, SUMO2 and SUMO3 precursors. Deconjugates SUMO1 from RXRA, leading to transcriptional activation. Involved in chromosome alignment and spindle assembly, by regulating the kinetochore CENPH-CENPI-CENPK complex. Desumoylates PML and CENPI, protecting them from degradation by the ubiquitin ligase RNF4, which targets polysumoylated proteins for proteasomal degradation. Also desumoylates RPA1, thus preventing recruitment of RAD51 to the DNA damage foci to initiate DNA repair through homologous recombination., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SENP1 localization is influenced by expression and localization of SUMO-1-conjugated target proteins within the cell., [RefSeq, PubMed]; SENP6 activity is required throughout the cell cycle, suggesting that a dynamic SUMO cycle underlies a continuous surveillance of the centromere complex. Publication Status: Online-Only, [RefSeq, PubMed]; SENP6-Mediated deSUMOylation of VEGFR2 Enhances Its Cell Membrane Transport in Angiogenesis. Publication Status: Online-Only, [RefSeq, PubMed]; Single Cell RNA-Seq Identifies Immune-Related Prognostic Model and Key Signature-SPP1 in Pancreatic Ductal Adenocarcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Ubiquitin-like molecules (UBLs), such as SUMO1 (UBL1; MIM 601912), are structurally related to ubiquitin (MIM 191339) and can be ligated to target proteins in a similar manner as ubiquitin. However, covalent attachment of UBLs does not result in degradation of the modified proteins. SUMO1 modification is implicated in the targeting of RANGAP1 (MIM 602362) to the nuclear pore complex, as well as in stabilization of I-kappa-B-alpha (NFKBIA; MIM 164008) from degradation by the 26S proteasome. Like ubiquitin, UBLs are synthesized as precursor proteins, with 1 or more amino acids following the C-terminal glycine-glycine residues of the mature UBL protein. Thus, the tail sequences of the UBL precursors need to be removed by UBL-specific proteases, such as SENP6, prior to their conjugation to target proteins (Kim et al., 2000 [PubMed 10799485]). SENPs also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009]., [RefSeq]; [Interaction of SENP6 with PINK1 Promotes Temozolomide Resistance in Neuroglioma Cells via Inducing the Mitophagy]., [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": 1, "reported_glycation": 0, "reported_snv": 34, "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": "A6NNY9;O94891;Q5VUL3;Q5VUL4;Q8TBY4;Q9UJV5", "ec_number_list": [], "go_molecular_function": "GO:0070139 SUMO-specific endopeptidase activity;GO:0008234 cysteine-type peptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0070646 protein modification by small protein removal;GO:0006508 proteolysis;GO:0016925 protein sumoylation;GO:0090169 regulation of spindle assembly;GO:0090234 regulation of kinetochore assembly", "synthesized_glycan_count": 0, "hit_score": 7.7, "record_id": "Q9GZR1-1", "record_type": "protein", "filter_code": "0000000.1100101.010000.000000000001000000.1100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H3T2-1", "uniprot_id": [ { "id": "SEM6C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H3T2", "type": "external" } ], "mass": 99686.0, "length": 930, "protein_name": "Semaphorin-6C", "gene_name": "SEMA6C", "organism": "Human", "refseq_name": "semaphorin-6C isoform 1 precursor", "refseq_ac": [ { "id": "NP_001171532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171532", "type": "external" } ], "gene_names_uniprotkb": "SEMA6C; KIAA1869; SEMAY", "gene_names_refseq": "SEMA6C; SEMAY; Sema-Y; m-SemaY2; m-SemaY", "protein_names_uniprotkb": "Semaphorin-6C; Sema Y; Semaphorin-Y", "protein_names_refseq": "sema Y; sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C; semaphorin-6C isoform 1 precursor; semaphorin-Y", "tax_id": 9606, "disease": "", "pathway": " (hsa:10500)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "12110693;19054571;24715725;29331515;30524438;34357683;35051231;36010968", "class_list": "", "function": "Identification, characterization, and functional study of the two novel human members of the semaphorin gene family, [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Shows growth cone collapsing activity on dorsal root ganglion (DRG) neurons in vitro. May be a stop signal for the DRG neurons in their target areas, and possibly also for other neurons. May also be involved in the maintenance and remodeling of neuronal connections., [UniProtKB, PubMed]; This gene encodes a member of the semaphorin family. Semaphorins represent important molecular signals controlling multiple aspects of the cellular response that follows CNS injury, and thus may play an important role in neural regeneration. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 3, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 23, "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": "D3DV15;Q5JR71;Q5JR72;Q5JR73;Q8WXT8;Q8WXT9;Q8WXU0;Q96JF8", "ec_number_list": [], "go_molecular_function": "GO:0030215 semaphorin receptor binding;GO:0045499 chemorepellent activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005886 plasma membrane;GO:0009986 cell surface", "go_biological_process": "GO:0030335 positive regulation of cell migration;GO:0071526 semaphorin-plexin signaling pathway;GO:0001755 neural crest cell migration;GO:0007411 axon guidance;GO:0030517 negative regulation of axon extension", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9H3T2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HB31-1", "uniprot_id": [ { "id": "SEBOX_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HB31", "type": "external" } ], "mass": 20398.0, "length": 190, "protein_name": "Homeobox protein SEBOX", "gene_name": "SEBOX", "organism": "Human", "refseq_name": "homeobox protein SEBOX", "refseq_ac": [ { "id": "NP_001074306", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074306", "type": "external" } ], "gene_names_uniprotkb": "SEBOX; OG9X", "gene_names_refseq": "OG-9; OG9X; OG9; SEBOX", "protein_names_uniprotkb": "Homeobox protein SEBOX; Homeobox OG-9; Skin-, embryo-, brain- and oocyte-specific homeobox", "protein_names_refseq": "homeobox OG-9; homeobox protein SEBOX; skin-, embryo-, brain- and oocyte-specific homeobox", "tax_id": 9606, "disease": "", "pathway": " (hsa:645832)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "10922053;27600516;31844290;33936100;35051231;35251023", "class_list": "", "function": "Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[supplied by OMIM, Mar 2008]., [RefSeq]; Probable transcription factor involved in the control of specification of mesoderm and endoderm., [UniProtKB]; This publication reported the human SEBOX gene sequence and predicted amino acid sequence, in addition to mouse and rat Sebox gene sequences., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "F6T8T6", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0003700 DNA-binding transcription factor activity", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9HB31-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBY8-2", "uniprot_id": [ { "id": "SGK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBY8", "type": "external" } ], "mass": 41175.0, "length": 367, "protein_name": "Serine/threonine-protein kinase Sgk2", "gene_name": "SGK2", "organism": "Human", "refseq_name": "serine/threonine-protein kinase Sgk2", "refseq_ac": [ { "id": "NP_001186193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186193", "type": "external" } ], "gene_names_uniprotkb": "SGK2", "gene_names_refseq": "H-SGK2; SGK2; dJ138B7.2", "protein_names_uniprotkb": "Serine/threonine-protein kinase Sgk2; 2.7.11.1; Serum/glucocorticoid-regulated kinase 2", "protein_names_refseq": "SGK2, serine/threonine kinase 2; serine/threonine-protein kinase Sgk2", "tax_id": 9606, "disease": "", "pathway": " (hsa:10110); (R-HSA-2672351)", "pathway_count": 2, "publication_count": 112, "publication_id_list": "10548550;10564087;10642508;10720933;10767424;10830164;10831588;11182090;11588175;11687798;11734858;11842292;11904445;11956057;12393854;12397388;12590200;12632189;12634932;12907679;1379744;14584882;14634667;15010458;15040001;15044642;15147738;15318163;15504734;15505377;15916532;15919655;16219661;16460280;16813530;16849430;16850186;17344846;17381423;17448995;17699613;17881003;18000046;18063579;18310267;18400985;18449189;18508966;18662336;18724360;19153159;19307298;19380724;19387438;19620632;19808995;19953639;20388639;20466723;20511718;20525693;20538786;20919962;21040849;21527911;21865597;21984732;22002868;22773952;22946059;2298749;23112050;2321095;23616951;2536303;26359375;26392083;26562072;26992070;28071645;28154142;28790369;29508533;29786170;30524438;30833945;31154438;32161166;32565024;32848212;33968037;34171305;35051231;35580925;36720852;7588753;7665160;7795595;8041726;8112288;8383669;8533761;8544406;8626462;8809036;9037075;9395096;9571199;9662395;9700209;9719863;9744806", "class_list": "", "function": "Powerful stimulating effect of all three isoforms of SGK on K(+) channels. Those effects may participate in regulation of epithelial transport, cell proliferation, and neuromuscular excitability., [RefSeq, PubMed]; SGK2 is overexpressed in colon cancer and promotes epithelial-mesenchymal transition in colon cancer cells., [RefSeq, PubMed]; SGK2 promotes prostate cancer metastasis by inhibiting ferroptosis via upregulating GPX4. Publication Status: Online-Only, [RefSeq, PubMed]; Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cell growth, survival and proliferation. Up-regulates Na(+) channels: SCNN1A/ENAC, K(+) channels: KCNA3/Kv1.3, KCNE1 and KCNQ1, amino acid transporter: SLC6A19, glutamate transporter: SLC1A6/EAAT4, glutamate receptors: GRIA1/GLUR1 and GRIK2/GLUR6, Na(+)/H(+) exchanger: SLC9A3/NHE3, and the Na(+)/K(+) ATPase., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; Serum- and glucocorticoid- inducible kinase 2, SGK2, is a novel autophagy regulator and modulates platinum drugs response in cancer cells., [RefSeq, PubMed]; This gene encodes a serine/threonine protein kinase. Although this gene product is similar to serum- and glucocorticoid-induced protein kinase (SGK), this gene is not induced by serum or glucocorticoids. This gene is induced in response to signals that activate phosphatidylinositol 3-kinase, which is also true for SGK. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 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": 7, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q52PK5;Q5H8Y6;Q5H8Z1;Q5TZR3;Q9UKG6", "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": "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": "3.6.-.-", "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:0015459 potassium channel regulator activity;GO:0017080 sodium channel regulator activity;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0042127 regulation of cell population proliferation;GO:0001558 regulation of cell growth;GO:0032411 positive regulation of transporter activity", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q9HBY8-2", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0U3-1", "uniprot_id": [ { "id": "SENP1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0U3", "type": "external" } ], "mass": 73481.0, "length": 644, "protein_name": "Sentrin-specific protease 1", "gene_name": "SENP1", "organism": "Human", "refseq_name": "sentrin-specific protease 1", "refseq_ac": [ { "id": "NP_001254523", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254523", "type": "external" } ], "gene_names_uniprotkb": "SENP1", "gene_names_refseq": "SENP1; SuPr-2", "protein_names_uniprotkb": "Sentrin-specific protease 1; 3.4.22.-; Sentrin/SUMO-specific protease SENP1", "protein_names_refseq": "SUMO1/sentrin specific peptidase 1; SUMO1/sentrin specific protease 1; sentrin-specific protease 1; sentrin/SUMO-specific protease SENP1", "tax_id": 9606, "disease": "type 1 diabetes mellitus (Disease Ontology:DOID:9744)", "pathway": " (hsa:29843); (R-HSA-3065679); (R-HSA-9035034)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10652325;11237011;11896061;12192048;12466471;14563852;15199155;15487983;15701643;16253240;16553580;16608850;16712526;16738315;16738331;16777452;17099698;17591783;17765681;18669648;20233848;21119010;21829689;21965678;22645359;23096567;23160374;23186163;24275569;24715725;24943844;25406032;25418920;25668492;26154972;26375851;26992070;27278019;27481945;27846572;27920218;28218747;28832583;28904123;29242379;29393594;29437277;29493099;29506078;29557506;29632046;29769354;30410026;30429286;31217245;31844290;31871319;32157095;32265295;32387766;33091337;33298915;33592498;33633747;33912179;33968037;34048572;34171305;34357683;34509645;34561969;35051231;35186948;35251023;35561310;37257451;38665916;38708853;38803001;38822351;39367979", "class_list": "", "function": "Co-localizes with Herpes simplex virus 1 ICP0 in cell nucleus, [RefSeq, PubMed]; N6-methyladenosine-modified SENP1, identified by IGF2BP3, is a novel molecular marker in acute myeloid leukemia and aggravates progression by activating AKT signal via de-SUMOylating HDAC2. Publication Status: Online-Only, [RefSeq, PubMed]; P300 is essential for SENP1 to enhance c-Jun-dependent transcription because SENP1 can desumoylate the CRD1 domain of p300, thereby releasing the cis-repression of CRD1 on p300, [RefSeq, PubMed]; Protease that catalyzes two essential functions in the SUMO pathway (PubMed:10652325, PubMed:15199155, PubMed:15487983, PubMed:16253240, PubMed:16553580, PubMed:21829689, PubMed:21965678, PubMed:23160374, PubMed:24943844, PubMed:25406032, PubMed:29506078, PubMed:34048572, PubMed:37257451). The first is the hydrolysis of an alpha-linked peptide bond at the C-terminal end of the small ubiquitin-like modifier (SUMO) propeptides, SUMO1, SUMO2 and SUMO3 leading to the mature form of the proteins (PubMed:15487983). The second is the deconjugation of SUMO1, SUMO2 and SUMO3 from targeted proteins, by cleaving an epsilon-linked peptide bond between the C-terminal glycine of the mature SUMO and the lysine epsilon-amino group of the target protein (PubMed:15199155, PubMed:16253240, PubMed:21829689, PubMed:21965678, PubMed:23160374, PubMed:24943844, PubMed:25406032, PubMed:29506078, PubMed:34048572, PubMed:37257451). Deconjugates SUMO1 from HIPK2 (PubMed:16253240). Deconjugates SUMO1 from HDAC1 and BHLHE40/DEC1, which decreases its transcriptional repression activity (PubMed:15199155, PubMed:21829689). Deconjugates SUMO1 from CLOCK, which decreases its transcriptional activation activity (PubMed:23160374). Deconjugates SUMO2 from MTA1 (PubMed:21965678). Inhibits N(6)-methyladenosine (m6A) RNA methylation by mediating SUMO1 deconjugation from METTL3 and ALKBH5: METTL3 inhibits the m6A RNA methyltransferase activity, while ALKBH5 desumoylation promotes m6A demethylation (PubMed:29506078, PubMed:34048572, PubMed:37257451). Desumoylates CCAR2 which decreases its interaction with SIRT1 (PubMed:25406032). Deconjugates SUMO1 from GPS2 (PubMed:24943844)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; SENP1 knockdown potentiates the apoptosis, cell cycle arrest, and reduces cisplatin resistance of diffuse large B cell lymphoma cells via inducing ferroptosis., [RefSeq, PubMed]; SENP1 mediates zinc-induced ZnT6 deSUMOylation at Lys-409 involved in the regulation of zinc metabolism in Golgi apparatus. Publication Status: Online-Only, [RefSeq, PubMed]; SENP1's ability to enhance AR-dependent transcription is not mediated through desumoylation of AR, but rather through its ability to deconjugate histone deacetylase 1 (HDAC1), thereby reducing its deacetylase activity., [RefSeq, PubMed]; SENP1-Mediated deSUMOylation Regulates the Tumor Remodeling of Glioma Stem Cells Under Hypoxic Stress., [RefSeq, PubMed]; This gene encodes a cysteine protease that specifically targets members of the small ubiquitin-like modifier (SUMO) protein family. This protease regulates SUMO pathways by deconjugating sumoylated proteins. This protease also functions to process the precursor SUMO proteins into their mature form. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 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": 5, "reported_mutagensis": 15, "reported_glycation": 0, "reported_snv": 22, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A8K7P5;Q86XC8", "ec_number_list": [ { "id": "3.6.5.2", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.2", "type": "external" }, { "id": "3.6.4.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.-", "type": "external" }, { "id": "3.1.3.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.-", "type": "external" }, { "id": "3.1.3.95", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.3.95", "type": "external" }, { "id": "1.16.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:1.16.1.-", "type": "external" }, { "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:0004175 endopeptidase activity;GO:0070139 SUMO-specific endopeptidase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0099523 presynaptic cytosol;GO:0099524 postsynaptic cytosol", "go_biological_process": "GO:0006508 proteolysis;GO:0016925 protein sumoylation;GO:0045944 positive regulation of transcription by RNA polymerase II;GO:0043488 regulation of mRNA stability;GO:0016926 protein desumoylation", "synthesized_glycan_count": 0, "hit_score": 8.4, "record_id": "Q9P0U3-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q99865-1", "uniprot_id": [ { "id": "SPI2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q99865", "type": "external" } ], "mass": 29188.0, "length": 258, "protein_name": "Spindlin-2A", "gene_name": "SPIN2A", "organism": "Human", "refseq_name": "spindlin-2A", "refseq_ac": [ { "id": "NP_061876", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_061876", "type": "external" } ], "gene_names_uniprotkb": "SPIN2A; DXF34; SPIN2", "gene_names_refseq": "DXF34; SPIN2A; SPIN2; TDRD25; dJ323P24.1", "protein_names_uniprotkb": "Spindlin-2A; Protein DXF34; SPIN-2A; SPIN-2; Spindlin-like protein 2A", "protein_names_refseq": "centromeric spin2 copy; spindlin homolog 2; spindlin-2A; spindlin-like protein 2A; spindlin-like protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:54466)", "pathway_count": 1, "publication_count": 16, "publication_id_list": "11237011;12145692;20068231;28063628;28834231;29061846;29242379;29393594;29493099;29632046;29786170;30620550;31844290;32157095;35561310;9271673", "class_list": "", "function": "May be involved in the regulation of cell cycle progression (By similarity). Exhibits H3K4me3-binding activity (PubMed:29061846)., [UniProtKB, PubMed, UniProtKB]; SPIN-2. SPIN-2 is a novel nuclear protein from HL-60 cells that functions to regulate cell cycle progression and this activity is related to the inhibition of apoptosis following the removal of essential growth factors, [RefSeq, PubMed]; This gene encodes one of three members of the DXF34 gene family, located in a 100-kb region of chromosome Xp11.21. [provided by RefSeq, Nov 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 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": 1, "binding_glycan_count": 0, "secondary_ac_list": "O75650;Q6IPW2;Q9UJJ0", "ec_number_list": [], "go_molecular_function": "GO:0140002 histone H3K4me3 reader activity", "go_cellular_component": "GO:0005654 nucleoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0006355 regulation of DNA-templated transcription;GO:0007276 gamete generation", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q99865-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DJJ0-1", "uniprot_id": [ { "id": "SRG2C_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DJJ0", "type": "external" } ], "mass": 53484.0, "length": 459, "protein_name": "SLIT-ROBO Rho GTPase-activating protein 2C", "gene_name": "SRGAP2C", "organism": "Human", "refseq_name": "SLIT-ROBO Rho GTPase-activating protein 2C isoform 1", "refseq_ac": [ { "id": "NP_001316913", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316913", "type": "external" } ], "gene_names_uniprotkb": "SRGAP2C; SRGAP2P1", "gene_names_refseq": "SRGAP2C; SRGAP2P1", "protein_names_uniprotkb": "SLIT-ROBO Rho GTPase-activating protein 2C; SLIT-ROBO Rho GTPase activating protein 2 pseudogene 1", "protein_names_refseq": "SLIT-ROBO Rho GTPase activating protein 2 pseudogene 1; SLIT-ROBO Rho GTPase-activating protein 2C isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:653464)", "pathway_count": 1, "publication_count": 17, "publication_id_list": "11237011;22559943;22559944;27373832;28333212;28580430;29557506;30429286;31154438;31822692;31848261;32938616;32983136;33981976;34707291;35051231;35580925", "class_list": "", "function": "A human-specific modifier of cortical connectivity and circuit function. Erratum:[Nature. 2022 Jan;601(7893):E10. doi: 10.1038/s41586-021-04302-8. PMID: 34997244], [RefSeq, PubMed]; Human-specific protein that acts as a key modifier of cortical connectivity in the human brain (PubMed:22559944, PubMed:27373832, PubMed:34707291). Acts by inhibiting the functions of ancestral paralog SRGAP2/SRGAP2A, a postsynaptic protein that regulates excitatory and inhibitory synapse maturation and density in cortical pyramidal neurons (PubMed:22559944, PubMed:27373832). SRGAP2C is unstable but is able to heterodimerize with SRGAP2/SRGAP2A, thereby reducing SRGAP2/SRGAP2A levels through proteasome-dependent degradation (PubMed:27373832, PubMed:28333212, PubMed:31822692). Inhibition of SRGAP2/SRGAP2A by SRGAP2C leads to an increase in synaptic density and protracted synaptic maturation of both excitatory and inhibitory synapses (PubMed:27373832, PubMed:34707291). Modifies cortical circuit connectivity by increasing the number of local and long-range cortical inputs received by layer 2/3 pyramidal neurons (PubMed:34707291). Also able to increase the probability of sensory-evoked responses by layer 2/3 pyramidal neurons (PubMed:34707291)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2B locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2, and acts antagonistically to these proteins in cortical neuron development. [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": 0, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0042803 protein homodimerization activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0043197 dendritic spine", "go_biological_process": "GO:1904861 excitatory synapse assembly;GO:0021816 extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration;GO:0007399 nervous system development;GO:0021987 cerebral cortex development;GO:0030336 negative regulation of cell migration", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "P0DJJ0-1", "record_type": "protein", "filter_code": "0000000.0100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60687-1", "uniprot_id": [ { "id": "SRPX2_HUMAN", "url": "https://www.uniprot.org/uniprot/O60687", "type": "external" } ], "mass": 52972.0, "length": 465, "protein_name": "Sushi repeat-containing protein SRPX2", "gene_name": "SRPX2", "organism": "Human", "refseq_name": "sushi repeat-containing protein SRPX2 precursor", "refseq_ac": [ { "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282", "type": "external" } ], "gene_names_uniprotkb": "SRPX2; SRPUL", "gene_names_refseq": "BPP; CBPS; PMGX; RESDX; SRPUL; SRPX2", "protein_names_uniprotkb": "Sushi repeat-containing protein SRPX2; Sushi-repeat protein upregulated in leukemia", "protein_names_refseq": "sushi repeat-containing protein SRPX2 precursor; sushi repeat-containing protein SRPX2; sushi-repeat protein up-regulated in leukemia; sushi-repeat protein upregulated in leukemia", "tax_id": 9606, "disease": "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked (MONDO:MONDO:0010388)", "pathway": " (hsa:27286)", "pathway_count": 1, "publication_count": 30, "publication_id_list": "10.1038/emboj.2013.79;11237011;16303743;16497722;17942002;18718938;19065654;20112406;209648;22242148;23584533;23831613;23871722;23933820;24179158;24995671;29789417;30551519;30779550;31844290;32455867;32550700;32938616;33592498;33981976;34093874;35051231;36010968;37306872;9864177", "class_list": "", "function": "Acts as a ligand for the urokinase plasminogen activator surface receptor. Plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular network (cords). Involved in cellular migration and adhesion. Increases the phosphorylation levels of FAK. Interacts with and increases the mitogenic activity of HGF. Promotes synapse formation. May have a role in the perisylvian region, critical for language and cognitive development., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Knockdown of SRPX2 inhibits cell proliferation and metastasis, and promotes chemosensitivity in esophageal squamous cell carcinoma cells., [RefSeq, PubMed]; Local administration of liposomal-based Srpx2 gene therapy reverses pulmonary fibrosis by blockading fibroblast-to-myofibroblast transition. Erratum:[Theranostics. 2022 Jul 8;12(12):5330-5331. doi: 10.7150/thno.74512. PMID: 35910799] Publication Status: Online-Only, [RefSeq, PubMed]; SRPX2 promotes cancer cell proliferation and migration of papillary thyroid cancer., [RefSeq, PubMed]; SRPX2 promotes cell proliferation and invasion via activating FAK/SRC/ERK pathway in non-small cell lung cancer., [RefSeq, PubMed]; Sushi Repeat Containing Protein X-linked 2 Is a Downstream Signal of LEM Domain Containing 1 and Acts as a Tumor-Promoting Factor in Oral Squamous Cell Carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The R75K human-specific variation occurred in an important functional loop of the first sushi domain of SRPX2, indicating that this evolutionary mutation may have functional importance Publication Status: Online-Only, [RefSeq, PubMed]; The SRPX2 protein contains the P-DUDES structural domain in its C-terminal region. This domain has significant albeit remote sequence similarity to thioredoxin-like domains, and is predicted to possess an oxidoreductase function., [RefSeq, PubMed]; The involvement of SRPX2 in these disorders suggests an important role for SRPX2 in the perisylvian region critical for language and cognitive development., [RefSeq, PubMed]; This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and cognitive disability. [provided by RefSeq, May 2010]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "B3KQT3;Q8WW85", "ec_number_list": [], "go_molecular_function": "GO:0036458 hepatocyte growth factor binding;GO:0005102 signaling receptor binding;GO:0042802 identical protein binding", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0005615 extracellular space;GO:0005737 cytoplasm;GO:0009986 cell surface;GO:0031012 extracellular matrix", "go_biological_process": "GO:0001525 angiogenesis;GO:0098609 cell-cell adhesion;GO:0051965 positive regulation of synapse assembly;GO:0090050 positive regulation of cell migration involved in sprouting angiogenesis;GO:0048870 cell motility", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "O60687-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A2VEC9-1", "uniprot_id": [ { "id": "SSPO_HUMAN", "url": "https://www.uniprot.org/uniprot/A2VEC9", "type": "external" } ], "mass": 547841.0, "length": 5150, "protein_name": "SCO-spondin", "gene_name": "SSPOP", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SSPOP; KIAA2036; SSPO", "gene_names_refseq": "", "protein_names_uniprotkb": "SCO-spondin; SCO-spondin pseudogene", "protein_names_refseq": "", "tax_id": 9606, "disease": "scoliosis (Disease Ontology:DOID:0060249); idiopathic scoliosis (Disease Ontology:DOID:0060250)", "pathway": " (R-HSA-5083635); (R-HSA-5173214)", "pathway_count": 2, "publication_count": 15, "publication_id_list": "11067851;16464858;17126404;18720094;19796186;22588082;23481700;23889335;25544610;26477546;30520531;32387766;34211107;35051231;36241641", "class_list": "", "function": "Involved in the modulation of neuronal aggregation (By similarity). May be involved in developmental events during the formation of the central nervous system (By similarity)., [UniProtKB, UniProtKB]", "predicted_glycosites": 50, "predicted_n_glycosites": 43, "predicted_o_glycosites": 7, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 50, "binding_glycan_count": 0, "secondary_ac_list": "A0A096LNW2;Q76B61", "ec_number_list": [], "go_molecular_function": "GO:0030414 peptidase inhibitor activity;GO:0005201 extracellular matrix structural constituent", "go_cellular_component": "GO:0005615 extracellular space;GO:0031012 extracellular matrix", "go_biological_process": "GO:0007155 cell adhesion", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "A2VEC9-1", "record_type": "protein", "filter_code": "0000000.0000111.000100.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A6NEL2-1", "uniprot_id": [ { "id": "SWAHB_HUMAN", "url": "https://www.uniprot.org/uniprot/A6NEL2", "type": "external" } ], "mass": 85742.0, "length": 793, "protein_name": "Ankyrin repeat domain-containing protein SOWAHB", "gene_name": "SOWAHB", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein SOWAHB", "refseq_ac": [ { "id": "NP_001025041", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025041", "type": "external" } ], "gene_names_uniprotkb": "SOWAHB; ANKRD56", "gene_names_refseq": "ANKRD56; SOWAHB", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein SOWAHB; Ankyrin repeat domain-containing protein 56; Protein sosondowah homolog B", "protein_names_refseq": "ankyrin repeat domain 56; ankyrin repeat domain-containing protein 56; ankyrin repeat domain-containing protein SOWAHB; protein sosondowah homolog B", "tax_id": 9606, "disease": "", "pathway": " (hsa:345079)", "pathway_count": 1, "publication_count": 13, "publication_id_list": "19651622;23481700;24275569;25645385;29351928;29557506;32574038;33110456;33968037;33981976;35051231;36010968;37217939", "class_list": "", "function": "Identification of a Set of Genes Improving Survival Prediction in Kidney Renal Clear Cell Carcinoma through Integrative Reanalysis of Transcriptomic Data. 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": 4, "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": 3, "binding_glycan_count": 0, "secondary_ac_list": "B2RP29", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 1.8, "record_id": "A6NEL2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B3KS81-1", "uniprot_id": [ { "id": "SRRM5_HUMAN", "url": "https://www.uniprot.org/uniprot/B3KS81", "type": "external" } ], "mass": 80355.0, "length": 715, "protein_name": "Serine/arginine repetitive matrix protein 5", "gene_name": "SRRM5", "organism": "Human", "refseq_name": "serine/arginine repetitive matrix protein 5", "refseq_ac": [ { "id": "NP_001139113", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139113", "type": "external" } ], "gene_names_uniprotkb": "SRRM5; ZNF576", "gene_names_refseq": "SRRM5", "protein_names_uniprotkb": "Serine/arginine repetitive matrix protein 5", "protein_names_refseq": "serine/arginine repetitive matrix protein 5; zinc finger protein 576", "tax_id": 9606, "disease": "", "pathway": " (hsa:100170229)", "pathway_count": 1, "publication_count": 1, "publication_id_list": "30379171", "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": 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": 4, "binding_glycan_count": 0, "secondary_ac_list": "B4DNF0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "B3KS81-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94933-1", "uniprot_id": [ { "id": "SLIK3_HUMAN", "url": "https://www.uniprot.org/uniprot/O94933", "type": "external" } ], "mass": 108934.0, "length": 977, "protein_name": "SLIT and NTRK-like protein 3", "gene_name": "SLITRK3", "organism": "Human", "refseq_name": "SLIT and NTRK-like protein 3 precursor", "refseq_ac": [ { "id": "NP_001305739", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305739", "type": "external" } ], "gene_names_uniprotkb": "SLITRK3; KIAA0848", "gene_names_refseq": "SLITRK3", "protein_names_uniprotkb": "SLIT and NTRK-like protein 3", "protein_names_refseq": "SLIT and NTRK-like protein 3 precursor; SLIT and NTRK-like protein 3; slit and trk like gene 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:22865); (R-HSA-388844); (R-HSA-9013423)", "pathway_count": 3, "publication_count": 38, "publication_id_list": "10.1101/2023.09.13.557529;10618392;11237011;11704860;11956649;14557068;14675773;15750591;16777452;17765681;18697831;19252495;19269969;19534724;20139422;20237496;21262467;21940441;22286174;22357843;23255595;23345436;25385546;25862245;25908590;26217092;26628301;27481945;27713499;28356423;29557506;31871319;34687211;35051231;36010968;7796809;9252344;9624153", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration., [RefSeq, PubMed]; SLITRK3 expression is a highly significant predictor of gastrointestinal stromal tumor recurrence and metastasis., [RefSeq, PubMed]; Suppresses neurite outgrowth., [UniProtKB]; This gene encodes a member of the Slitrk family of structurally related transmembrane proteins that are involved in controlling neurite outgrowth. The encoded protein contains two leucine-rich repeat (LRR) domains and a C-terminal domain that is partially similar to Trk neurotrophin receptor protein. Enhanced expression of this gene was found in tissue from several different types of tumors. Alternative splicing results in multiple transcript variants, all encoding the same protein. [provided by RefSeq, Jan 2016]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 2, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 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": 51, "reported_interactions": 0, "missing_score": 9803, "biomarker_type": "", "glycan_count": 2, "disease_count": 0, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "Q1RMY6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0009986 cell surface;GO:0098839 postsynaptic density membrane;GO:0099634 postsynaptic specialization membrane", "go_biological_process": "GO:0007409 axonogenesis;GO:0051965 positive regulation of synapse assembly;GO:0099560 synaptic membrane adhesion;GO:1905606 regulation of presynapse assembly", "synthesized_glycan_count": 0, "hit_score": 4.3, "record_id": "O94933-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.1000000010000.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86TL2-1", "uniprot_id": [ { "id": "STIMA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86TL2", "type": "external" } ], "mass": 33187.0, "length": 294, "protein_name": "Store-operated calcium entry regulator STIMATE", "gene_name": "STIMATE", "organism": "Human", "refseq_name": "store-operated calcium entry regulator STIMATE", "refseq_ac": [ { "id": "NP_940965", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940965", "type": "external" } ], "gene_names_uniprotkb": "STIMATE; TMEM110", "gene_names_refseq": "STIMATE; TMEM110", "protein_names_uniprotkb": "Store-operated calcium entry regulator STIMATE; STIM-activating enhancer encoded by TMEM110; Transmembrane protein 110", "protein_names_refseq": "STIM-activating enhancer encoded by TMEM110; store-operated calcium entry regulator STIMATE; transmembrane protein 110", "tax_id": 9606, "disease": "", "pathway": " (hsa:375346)", "pathway_count": 1, "publication_count": 15, "publication_id_list": "10.1038/emboj.2013.79;11237011;23584533;24190977;25892735;26322679;26644574;28228285;28514659;28904123;29393594;29769354;31092671;31844290;32350084", "class_list": "", "function": "Acts as a regulator of store-operated Ca(2+) entry (SOCE) at junctional sites that connect the endoplasmic reticulum (ER) and plasma membrane (PM), called ER-plasma membrane (ER-PM) junction or cortical ER (PubMed:26322679, PubMed:26644574). SOCE is a Ca(2+) influx following depletion of intracellular Ca(2+) stores (PubMed:26322679). Acts by interacting with STIM1, promoting STIM1 conformational switch (PubMed:26322679). Involved in STIM1 relocalization to ER-PM junctions (PubMed:26644574). Contributes to the maintenance and reorganization of store-dependent ER-PM junctions (PubMed:26644574)., [UniProtKB, PubMed, PubMed]; Data show that transmembrane protein 110 STIMATE is an endoplasmic reticulum (ER)-resident protein that co-localizes with membrane protein STIM1., [RefSeq, PubMed]; Research on calcium signaling has centered on STIM1, ORAI1, and proteins that modulate their function. TMEM110 regulates the maintenance of ER-plasma membrane junctions and the short-term remodeling of junctions during store-dependent calcium 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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 1, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 1, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "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": "", "ec_number_list": [], "go_molecular_function": "GO:0005246 calcium channel regulator activity", "go_cellular_component": "GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0032541 cortical endoplasmic reticulum;GO:0140268 endoplasmic reticulum-plasma membrane contact site", "go_biological_process": "GO:0032237 activation of store-operated calcium channel activity;GO:0002115 store-operated calcium entry", "synthesized_glycan_count": 0, "hit_score": 1.9, "record_id": "Q86TL2-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1100000000000.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q96LK8-1", "uniprot_id": [ { "id": "SPT32_HUMAN", "url": "https://www.uniprot.org/uniprot/Q96LK8", "type": "external" } ], "mass": 42325.0, "length": 384, "protein_name": "Spermatogenesis-associated protein 32", "gene_name": "SPATA32", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 32", "refseq_ac": [ { "id": "NP_689556", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689556", "type": "external" } ], "gene_names_uniprotkb": "SPATA32; C17orf46; TEX34", "gene_names_refseq": "AEP2; C17orf46; SPATA32; TEX34; VAD1.2", "protein_names_uniprotkb": "Spermatogenesis-associated protein 32; Testis-expressed protein 34", "protein_names_refseq": "CTD-2020K17.4; acrosome expressed 2; spermatogenesis-associated protein 32; testis expressed 34; testis-expressed protein 34; testis-expressed sequence 34 protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:124783)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;18621766;21048031;28228285;33141586;34087483;36010968;37074911", "class_list": "", "function": "Observational study of gene-disease association and gene-environment interaction. (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": 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": 13, "reported_interactions": 0, "missing_score": 9462, "biomarker_type": "", "glycan_count": 6, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q7Z4U1;Q8N6V6", "ec_number_list": [], "go_molecular_function": "GO:0003779 actin binding", "go_cellular_component": "GO:0048471 perinuclear region of cytoplasm", "go_biological_process": "GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 1.6, "record_id": "Q96LK8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O00186-1", "uniprot_id": [ { "id": "STXB3_HUMAN", "url": "https://www.uniprot.org/uniprot/O00186", "type": "external" } ], "mass": 67764.0, "length": 592, "protein_name": "Syntaxin-binding protein 3", "gene_name": "STXBP3", "organism": "Human", "refseq_name": "syntaxin-binding protein 3", "refseq_ac": [ { "id": "NP_009200", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009200", "type": "external" } ], "gene_names_uniprotkb": "STXBP3", "gene_names_refseq": "MUNC18-3; MUNC18C; PSP; STXBP3; UNC-18C", "protein_names_uniprotkb": "Syntaxin-binding protein 3; PSP; Platelet Sec1 protein; Protein unc-18 homolog 3; Protein unc-18 homolog C; Unc-18C; Unc18-3", "protein_names_refseq": "platelet Sec1 protein; protein unc-18 homolog 3; protein unc-18 homolog C; syntaxin 4 binding protein; syntaxin-binding protein 3; unc18-3", "tax_id": 9606, "disease": "", "pathway": " (hsa:6814); (R-HSA-114516); (R-HSA-1445148)", "pathway_count": 3, "publication_count": 110, "publication_id_list": "10194441;10856305;15919790;15971998;16880201;17369524;17916632;17995453;19013499;19252894;20631154;20701589;20837646;20937701;21444687;21454505;21454690;21548926;21907143;22544926;23481700;23783831;23937695;24366607;24715725;25418920;2550440;25576301;25645385;25880248;25892735;26154972;26375851;26768311;26929215;26992070;27397612;27600516;27846572;27862975;27920218;28218747;28228285;28294518;28798239;28832583;28834231;28904123;29242379;29284677;29493099;29508533;29557506;29632046;29632711;29769354;29786170;30315122;30429286;30524438;30779550;31154438;31217245;31222486;31611695;31844290;31848261;31937595;31998317;32157095;32265295;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33298915;33392160;33537174;33592498;33691108;33891011;33912179;33968037;33981976;34087483;34171305;34211107;34357683;34405274;34509645;35051231;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;40914422;8094051;8664345;8824310", "class_list": "", "function": "Data suggest MUNC18C is required for STX4-mediated invadopodium formation and tumor invasion of extracellular matrix; N-terminal STX4 fragment binds to MUNC18C and inhibits interactions of STX4 with synaptosome-associated protein 23 (SNAP23) and vesicle-associated membrane protein 2 (VAMP2). Fibrosarcoma/adenocarcinoma cell lines were used in these studies. (MUNC18C = syntaxin binding protein MUNC18C; STX4 = syntaxin 4), [RefSeq, PubMed]; PP2B-Aalpha-Munc18c complex supports agonist-induced VWF secretion by HUVECs., [RefSeq, PubMed]; Pancreatic acini from Munc18c-depleted mice (Munc18c(+/-)) and human pancreas (lenti-Munc18c-shRNA-treated) exhibit normal apical exocytosis of zymogen granules (ZGs) in response to physiologic stimulation with the intestinal hormone cholecystokinin (CCK-8)., [RefSeq, PubMed]; Together with STX4 and VAMP2, may play a role in insulin-dependent movement of GLUT4 and in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes., [UniProtKB]; Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "A8K269;A8K5K7;Q53FW1;Q86YJ3;Q9UPD7", "ec_number_list": [], "go_molecular_function": "GO:0044877 protein-containing complex binding;GO:0019905 syntaxin binding;GO:0017075 syntaxin-1 binding", "go_cellular_component": "GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0016323 basolateral plasma membrane;GO:0030141 secretory granule;GO:0070062 extracellular exosome", "go_biological_process": "GO:0006886 intracellular protein transport;GO:0043312 neutrophil degranulation;GO:0045955 negative regulation of calcium ion-dependent exocytosis;GO:0070527 platelet aggregation;GO:0099525 presynaptic dense core vesicle exocytosis", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "O00186-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O76094-1", "uniprot_id": [ { "id": "SRP72_HUMAN", "url": "https://www.uniprot.org/uniprot/O76094", "type": "external" } ], "mass": 74606.0, "length": 671, "protein_name": "Signal recognition particle subunit SRP72", "gene_name": "SRP72", "organism": "Human", "refseq_name": "signal recognition particle subunit SRP72 isoform 2", "refseq_ac": [ { "id": "NP_001254651", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001254651", "type": "external" } ], "gene_names_uniprotkb": "SRP72", "gene_names_refseq": "BMFF; BMFS1; HEL103; SRP72", "protein_names_uniprotkb": "Signal recognition particle subunit SRP72; SRP72; Signal recognition particle 72 kDa protein", "protein_names_refseq": "epididymis luminal protein 103; signal recognition particle 72 kDa protein; signal recognition particle 72kDa; signal recognition particle 72kD; signal recognition particle subunit SRP72 isoform 2; signal recognition particle subunit SRP72", "tax_id": 9606, "disease": "autosomal dominant aplasia and myelodysplasia (MONDO:MONDO:0013851)", "pathway": " (hsa:6731); (R-HSA-1799339)", "pathway_count": 2, "publication_count": 107, "publication_id_list": "10.1101/2023.09.13.557529;11237011;11964406;12853463;16469117;16672232;17081983;18166647;18455985;18669648;18691976;18707149;19007248;19413330;19651622;19664995;19690332;19691289;20058876;20068231;20444697;21073748;22223895;22424782;22541560;22544926;23186163;24275569;24714562;24715725;25114211;25367160;25576301;25880248;26154972;26992070;27846572;27862975;27899666;28369529;28510447;28832583;28904123;29242379;29437277;29493099;29557506;30315122;30429286;30573663;30649417;30779550;31154438;31217245;31222486;31373491;31530632;31844290;31848261;31937595;32119511;32157095;32161166;32350084;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33123756;33141586;33214551;33298915;33392160;33537174;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34020957;34087483;34171305;34211107;34405274;34509645;34932366;35051231;35138101;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37217939;37938771;38665916;40596516;40914422;9631292", "class_list": "", "function": "Component of the signal recognition particle (SRP) complex, a ribonucleoprotein complex that mediates the cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER) (PubMed:34020957). The SRP complex interacts with the signal sequence in nascent secretory and membrane proteins and directs them to the membrane of the ER (PubMed:34020957). The SRP complex targets the ribosome-nascent chain complex to the SRP receptor (SR), which is anchored in the ER, where SR compaction and GTPase rearrangement drive cotranslational protein translocation into the ER (PubMed:34020957). Binds the signal recognition particle RNA (7SL RNA) in presence of SRP68 (PubMed:21073748, PubMed:27899666). Can bind 7SL RNA with low affinity (PubMed:21073748, PubMed:27899666). The SRP complex possibly participates in the elongation arrest function (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, PubMed]; E show that SRP RNA does not bind to the ribosome, while SRP binds with nanomolar affinity involving a two-step mechanism of the key-player SRP54. Ultrasensitive binding of SRP68/72 indicates avidity by multiple binding sites that are dominated by the C-terminus of SRP72, [RefSeq, PubMed]; This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 17, "reported_mutagensis": 20, "reported_glycation": 0, "reported_snv": 17, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 3, "disease_count": 1, "glyco_site_count": 4, "binding_glycan_count": 0, "secondary_ac_list": "G5E9Z8;Q7Z3C0", "ec_number_list": [], "go_molecular_function": "GO:0030911 TPR domain binding;GO:0005047 signal recognition particle binding;GO:0003723 RNA binding;GO:0008312 7S RNA binding", "go_cellular_component": "GO:0005786 signal recognition particle, endoplasmic reticulum targeting;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0048500 signal recognition particle", "go_biological_process": "GO:0006614 SRP-dependent cotranslational protein targeting to membrane;GO:0006617 SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition", "synthesized_glycan_count": 0, "hit_score": 11.5, "record_id": "O76094-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.1100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94864-1", "uniprot_id": [ { "id": "ST65G_HUMAN", "url": "https://www.uniprot.org/uniprot/O94864", "type": "external" } ], "mass": 46193.0, "length": 414, "protein_name": "STAGA complex 65 subunit gamma", "gene_name": "SUPT7L", "organism": "Human", "refseq_name": "STAGA complex 65 subunit gamma isoform a", "refseq_ac": [ { "id": "NP_001269658", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001269658", "type": "external" } ], "gene_names_uniprotkb": "SUPT7L; KIAA0764", "gene_names_refseq": "FZPS; SPT7L; STAF65(gamma); STAF65G; STAF65; SUPT7H; SUPT7L", "protein_names_uniprotkb": "STAGA complex 65 subunit gamma; Adenocarcinoma antigen ART1; SPTF-associated factor 65 gamma; STAF65gamma; Suppressor of Ty 7-like", "protein_names_refseq": "SPT7 like, STAGA complex gamma subunit; SPTF-associated factor 65 gamma; STAF65gamma; STAGA complex 65 gamma subunit; STAGA complex 65 subunit gamma isoform a; STAGA complex 65 subunit gamma; adenocarcinoma antigen ART1; suppressor of Ty 7-like", "tax_id": 9606, "disease": "Fischer-Zirnsak progeroid syndrome (MONDO:MONDO:0700301)", "pathway": " (hsa:9913); (R-HSA-3214847)", "pathway_count": 2, "publication_count": 98, "publication_id_list": "10786633;10821277;10987294;11564863;12750860;12886526;15129427;15313887;15561718;15728473;16387653;17375202;17440952;18160138;18250150;18381289;18623064;18669648;19187765;19690332;20018852;20068231;20112406;23301498;23481700;24275569;24366607;24852358;25218447;25418920;25576301;25755297;25880248;25892735;26154972;26811146;26992070;27600516;27846572;27862975;27920218;28063628;28218747;28228285;28514659;28832583;28834231;28860189;28904123;29242379;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29786170;30315122;30429286;30779550;30833945;31154438;31217245;31222486;31530632;31844290;31848261;32157095;32265295;32350084;32488085;32502341;32938616;32983136;33123756;33298915;33537174;33592498;33691108;33912179;33968037;33981976;34087483;34171305;34932366;35051231;35318648;35580925;36241641;36284347;37938771;38592547;39534244;40307207;9427644;9558366;9880483", "class_list": "", "function": "A novel peptide ligand recognized by tumor-specific CD4+ T regulatory (Treg) cells is a dominant peptide derived from the mutated ARTC1 gene. ARTC1 peptide-activated CD4+ Treg cells suppress proliferation and IL-2 secretion of melanoma-reactive T cells., [RefSeq, PubMed]; As a component of the STAGA transcription coactivator-HAT complex, is involved in transcriptional regulation., [UniProtKB, PubMed]; Optimal binding of STAGA to p53 involves interactions of STAGA subunits TAF9, GCN5, and ADA2b, respectively, [RefSeq, PubMed]; Our findings reveal a distinct role of STAF65gamma in nuclear import, transcriptional repression, and cell cycle regulation at high levels of expression, which is associated with poor clinical outcomes of lung adenocarcinoma., [RefSeq, PubMed]; SUPT7L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 2, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 2, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 2, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 5, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "B4E3W3;Q6IB21;Q9H2T6", "ec_number_list": [], "go_molecular_function": "GO:0003713 transcription coactivator activity;GO:0046982 protein heterodimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0000124 SAGA complex", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0045893 positive regulation of DNA-templated transcription;GO:0043484 regulation of RNA splicing;GO:0051457 maintenance of protein location in nucleus;GO:0006282 regulation of DNA repair", "synthesized_glycan_count": 0, "hit_score": 10.2, "record_id": "O94864-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P01286-1", "uniprot_id": [ { "id": "SLIB_HUMAN", "url": "https://www.uniprot.org/uniprot/P01286", "type": "external" } ], "mass": 12447.0, "length": 108, "protein_name": "Somatoliberin", "gene_name": "GHRH", "organism": "Human", "refseq_name": "somatoliberin isoform 2 preproprotein", "refseq_ac": [ { "id": "NP_001171660", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171660", "type": "external" } ], "gene_names_uniprotkb": "GHRH; GHRF", "gene_names_refseq": "GHRF; GHRH; GRF; INN", "protein_names_uniprotkb": "Somatoliberin; GHRH; GRF; Growth hormone-releasing factor; Growth hormone-releasing hormone; Somatocrinin; Somatorelin", "protein_names_refseq": "growth hormone releasing factor; sermorelin; somatocrinin; somatoliberin isoform 2 preproprotein; somatoliberin; somatorelin", "tax_id": 9606, "disease": "autoimmune polyendocrine syndrome type 1 (Disease Ontology:DOID:0050167); obstructive sleep apnea (Disease Ontology:DOID:0050848); isolated growth hormone deficiency type IA (Disease Ontology:DOID:0060873); prostate carcinoma (Disease Ontology:DOID:10286); prostatic hypertrophy (Disease Ontology:DOID:11132); endometrial cancer (Disease Ontology:DOID:1380); breast cancer (Disease Ontology:DOID:1612); ovarian cancer (Disease Ontology:DOID:2394); endometriosis (Disease Ontology:DOID:289); renal cell carcinoma (Disease Ontology:DOID:4450); sleep disorder (Disease Ontology:DOID:535); myocardial infarction (Disease Ontology:DOID:5844)", "pathway": " (hsa:2691); (R-HSA-418555); (R-HSA-420092)", "pathway_count": 3, "publication_count": 81, "publication_id_list": "10322410;10698200;11007482;11060443;11946536;12036966;12058044;12106601;12180353;12860470;1333056;13549488;14671004;1517224;15464082;15471943;15765929;15769620;15951850;16313925;16687412;16923326;17168849;1739432;18044684;18577758;19105585;19876791;19929708;20381629;21036126;2163110;24029240;2417744;24687066;2491850;2553411;2553705;26324071;26417854;2826231;2854259;2871555;29443750;29602314;3029387;30833991;3127824;31279028;31399091;31983287;32065979;32226383;32497535;32540603;32618402;32715661;33049737;33060564;35566020;3899557;3918305;6085243;6192430;6415488;6745415;6812220;7589426;7680413;7700244;7811244;7902709;8144028;8340388;8390245;8514797;8672451;9263355;9417641;9651336;9990065", "class_list": "", "function": "A comprehensive contribution of genetic variations of the insulin-like growth factor 1 signalling pathway to stroke susceptibility., [RefSeq, PubMed]; Expression of Growth Hormone-Releasing Hormone and Its Receptor Splice Variants in Primary Human Endometrial Carcinomas: Novel Therapeutic Approaches. Publication Status: Online-Only, [RefSeq, PubMed]; GRF is released by the hypothalamus and acts on the adenohypophyse to stimulate the secretion of growth hormone., [UniProtKB]; Structural basis for activation of the growth hormone-releasing hormone receptor. Publication Status: Online-Only, [RefSeq, PubMed]; This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary gland. Variant receptors for somatoliberin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [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": 3, "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": "Q4KN10;Q5JYR1", "ec_number_list": [], "go_molecular_function": "GO:0031770 growth hormone-releasing hormone receptor binding;GO:0005184 neuropeptide hormone activity;GO:0051428 peptide hormone receptor binding;GO:0016608 growth hormone-releasing hormone activity", "go_cellular_component": "GO:0005576 extracellular region;GO:0005615 extracellular space;GO:0043195 terminal bouton;GO:0043204 perikaryon", "go_biological_process": "GO:0021984 adenohypophysis development;GO:0046005 positive regulation of circadian sleep/wake cycle, REM sleep;GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway;GO:0007267 cell-cell signaling;GO:0008284 positive regulation of cell population proliferation", "synthesized_glycan_count": 0, "hit_score": 8.2, "record_id": "P01286-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CI01-1", "uniprot_id": [ { "id": "SPDE6_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CI01", "type": "external" } ], "mass": 48330.0, "length": 402, "protein_name": "Speedy protein E6", "gene_name": "SPDYE6", "organism": "Human", "refseq_name": "speedy protein E6", "refseq_ac": [ { "id": "NP_001139682", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001139682", "type": "external" } ], "gene_names_uniprotkb": "SPDYE6", "gene_names_refseq": "SPDYE6", "protein_names_uniprotkb": "Speedy protein E6", "protein_names_refseq": "Putative speedy protein E6; speedy homolog E6; speedy protein E6", "tax_id": 9606, "disease": "", "pathway": " (hsa:729597)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "This gene encodes a cell cycle regulatory protein which plays an important role in cell cycle progression by binding and activating cyclin-dependent kinases. The encoded protein belongs to a family of cyclin-dependent kinase regulators that contain a speedy box domain which is required for cyclin-dependent kinase activation. [provided by RefSeq, Jul 2017]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 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": "A0A096LNU6", "ec_number_list": [], "go_molecular_function": "GO:0019901 protein kinase binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "P0CI01-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CL85-1", "uniprot_id": [ { "id": "ST3L3_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CL85", "type": "external" } ], "mass": 15609.0, "length": 134, "protein_name": "STAG3-like protein 3", "gene_name": "STAG3L3", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "STAG3L3", "gene_names_refseq": "", "protein_names_uniprotkb": "STAG3-like protein 3; Stromal antigen 3-like protein 3", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 3, "publication_id_list": "32938616;34405274;34509645", "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": "A6NMT8;A8K0A1;Q32NE4;Q6NXR2;Q7L5M5;Q7Z5K6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "P0CL85-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22531-1", "uniprot_id": [ { "id": "SPR2E_HUMAN", "url": "https://www.uniprot.org/uniprot/P22531", "type": "external" } ], "mass": 7855.0, "length": 72, "protein_name": "Small proline-rich protein 2E", "gene_name": "SPRR2E", "organism": "Human", "refseq_name": "small proline-rich protein 2E", "refseq_ac": [ { "id": "NP_001019380", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001019380", "type": "external" } ], "gene_names_uniprotkb": "SPRR2E", "gene_names_refseq": "SPRR2E", "protein_names_uniprotkb": "Small proline-rich protein 2E; SPR-2E; SPR-II; Small proline-rich protein II", "protein_names_refseq": "SPR-2E; SPR-II; small proline-rich protein 2E; small proline-rich protein II", "tax_id": 9606, "disease": "", "pathway": " (hsa:6704); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 41, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11279051;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18643845;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;3133554;38665916;7543090;8824274;8999895;9395522;9565599", "class_list": "", "function": "Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families., [RefSeq, PubMed]; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane., [UniProtKB]; This gene encodes a member of a family of small proline-rich proteins clustered in the epidermal differentiation complex on chromosome 1q21. The encoded protein, along with other family members, is a component of the cornified cell envelope that forms beneath the plasma membrane in terminally differentiated stratified squamous epithelia. This envelope serves as a barrier against extracellular and environmental factors. The seven SPRR2 genes (A-G) appear to have been homogenized by gene conversion compared to others in the cluster that exhibit greater differences in protein structure. [provided by RefSeq, Feb 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": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "Q5T9T4;Q96RM2", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity;GO:0030280 structural constituent of skin epidermis", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001533 cornified envelope", "go_biological_process": "GO:0008544 epidermis development;GO:0070268 cornification", "synthesized_glycan_count": 0, "hit_score": 4.4, "record_id": "P22531-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35325-1", "uniprot_id": [ { "id": "SPR2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P35325", "type": "external" } ], "mass": 7975.0, "length": 72, "protein_name": "Small proline-rich protein 2B", "gene_name": "SPRR2B", "organism": "Human", "refseq_name": "small proline-rich protein 2B", "refseq_ac": [ { "id": "NP_001017418", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001017418", "type": "external" } ], "gene_names_uniprotkb": "SPRR2B", "gene_names_refseq": "SPRR2B", "protein_names_uniprotkb": "Small proline-rich protein 2B; SPR-2B", "protein_names_refseq": "SPR-2B; small proline-rich protein 2B", "tax_id": 9606, "disease": "", "pathway": " (hsa:6701); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11279051;11350120;11380615;11590230;12902340;14748073;15033990;15337775;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18643845;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21985131;21997417;22374195;23629652;25926655;26390218;29581288;7543090;8325635;8824274;8999895;9395522;9565599", "class_list": "", "function": "An SNP in SPRR2B was predictive of asthma among white children with eczema from 2 independent populations., [RefSeq, PubMed]; Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families., [RefSeq, PubMed]; Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane., [UniProtKB]; Knockdown of the Sprr2b gene or inhibition of SPRR2B phosphorylation attenuates USP7/MDM2 binding and p53 degradation, leading to fibroblasts cell cycle arrest., [RefSeq, PubMed]; SPR2B transcripts and protein were moderately increased in the human papillomaviurs 11- and 59-infected tissues., [RefSeq, PubMed]; We showed that just four genes, G3BP2, SCARB2, CSNK1A1 and SPRR2B, can classify patients as presence of lymph node metastasis negative or positive, with 80.0% accuracy., [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": 5, "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": "Q5T528", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005829 cytosol;GO:0001533 cornified envelope", "go_biological_process": "GO:0031424 keratinization;GO:0008544 epidermis development;GO:0030216 keratinocyte differentiation", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P35325-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P49588-1", "uniprot_id": [ { "id": "SYAC_HUMAN", "url": "https://www.uniprot.org/uniprot/P49588", "type": "external" } ], "mass": 106810.0, "length": 968, "protein_name": "Alanine--tRNA ligase, cytoplasmic", "gene_name": "AARS1", "organism": "Human", "refseq_name": "alanine--tRNA ligase, cytoplasmic", "refseq_ac": [ { "id": "NP_001596", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001596", "type": "external" } ], "gene_names_uniprotkb": "AARS1; AARS", "gene_names_refseq": "AARS1; AARS; CMT2N; DEE29; EIEE29; HDLS2; TTD8", "protein_names_uniprotkb": "Alanine--tRNA ligase, cytoplasmic; 6.-.-.-; 6.1.1.7; AlaRS; Alanyl-tRNA synthetase; Protein lactyltransferase AARS1; Renal carcinoma antigen NY-REN-42", "protein_names_refseq": "alaRS; alanine tRNA ligase 1, cytoplasmic; alanine--tRNA ligase, cytoplasmic; alanyl-tRNA synthetase, cytoplasmic; protein lactyltransferase AARS1; renal carcinoma antigen NY-REN-42", "tax_id": 9606, "disease": "cerebellar ataxia (Disease Ontology:DOID:0050753); nonphotosensitive trichothiodystrophy 8 (Disease Ontology:DOID:0061023); developmental and epileptic encephalopathy 29 (Disease Ontology:DOID:0080451); Charcot-Marie-Tooth disease axonal type 2N (Disease Ontology:DOID:0110177); dermatomyositis (Disease Ontology:DOID:10223); leukodystrophy (Disease Ontology:DOID:10579); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); microcephaly (Disease Ontology:DOID:10907); axonal neuropathy (Disease Ontology:DOID:7319); leukoencephalopathy, hereditary diffuse, with spheroids 2 (MONDO:MONDO:0030634)", "pathway": " (hsa:16); (R-HSA-379716)", "pathway_count": 2, "publication_count": 175, "publication_id_list": "10508479;11237011;11347887;11714285;11829477;11858721;11862315;12124871;12690580;1373391;14660560;14671330;16055448;16139798;16429158;16906134;17081983;1761529;17697703;18669648;19608861;19661429;20045102;20068231;20112406;22009580;22206013;22223895;22898188;23186163;23301498;23481700;24366607;24627108;24714562;24715725;25418920;25469497;25576301;25645385;25817015;25880248;25892735;26154972;26375851;26728094;26768311;26811146;26824387;26853435;26992070;27397612;27543614;27600516;27622773;27846572;27862975;27911835;27920218;28063628;28218747;28228285;28467828;28493438;28832583;28834231;28855257;28904123;29242379;29273753;29314611;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29769354;29786170;29789417;30315122;30397120;30410026;30429286;30484775;30524438;30573663;30626607;30779550;30833945;31020640;31154438;31217245;31222486;31530632;31775912;31844290;31848261;31937595;31998317;32119511;32157095;32161166;32265295;32350084;32357974;32387766;32488085;32502341;32611769;32870666;32897882;32938616;32983136;33141586;33214551;33298915;33392160;33592498;33691108;33717175;33909043;33912179;33936100;33968037;33981976;34019948;34078123;34087483;34171305;34357683;34433824;34561969;34725712;34932366;35008409;35051231;35138101;35154160;35251023;35318648;35561310;35580925;35911843;35971119;36010968;36215666;36240223;36241641;36284347;37010095;37106376;37217939;37938771;38512451;38653238;38665916;39322678;40596516;40914422;4130389;6022858;656444;7118399;7654687;8052601;8078941;8188258;8428657;8449960;9278442;9421509;9431993", "class_list": "", "function": "A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations., [RefSeq, PubMed]; Alanyl-tRNA synthetase, AARS1, is a lactate sensor and lactyltransferase that lactylates p53 and contributes to tumorigenesis., [RefSeq, PubMed]; Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain., [UniProtKB, HAMAP, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed]; The alanyl-tRNA synthetase AARS1 moonlights as a lactyltransferase to promote YAP signaling in gastric cancer. Publication Status: Online-Only, [RefSeq, PubMed]; The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [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": 14, "reported_glycation": 0, "reported_snv": 33, "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": "A6NF14;B4DR45;Q53GV7;Q96FA0", "ec_number_list": [ { "id": "6.1.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.7", "type": "external" }, { "id": "6.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.-.-.-", "type": "external" } ], "go_molecular_function": "GO:0002161 aminoacyl-tRNA deacylase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0016597 amino acid binding;GO:0000049 tRNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0016020 membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0008033 tRNA processing;GO:0006400 tRNA modification;GO:0006418 tRNA aminoacylation for protein translation;GO:0006419 alanyl-tRNA aminoacylation;GO:0035332 positive regulation of hippo signaling", "synthesized_glycan_count": 0, "hit_score": 17.8, "record_id": "P49588-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P51649-1", "uniprot_id": [ { "id": "SSDH_HUMAN", "url": "https://www.uniprot.org/uniprot/P51649", "type": "external" } ], "mass": 57215.0, "length": 535, "protein_name": "Succinate-semialdehyde dehydrogenase, mitochondrial", "gene_name": "ALDH5A1", "organism": "Human", "refseq_name": "succinate-semialdehyde dehydrogenase, mitochondrial isoform 2 precursor", "refseq_ac": [ { "id": "NP_001071", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001071", "type": "external" } ], "gene_names_uniprotkb": "ALDH5A1; SSADH", "gene_names_refseq": "ALDH5A1; SSADH; SSDH", "protein_names_uniprotkb": "Succinate-semialdehyde dehydrogenase, mitochondrial; 1.2.1.24; Aldehyde dehydrogenase family 5 member A1; NAD(+)-dependent succinic semialdehyde dehydrogenase", "protein_names_refseq": "NAD(+)-dependent succinic semialdehyde dehydrogenase; mitochondrial succinate semialdehyde dehydrogenase; succinate-semialdehyde dehydrogenase, mitochondrial isoform 2 precursor", "tax_id": 9606, "disease": "succinic semialdehyde dehydrogenase deficiency (Disease Ontology:DOID:0060175); epilepsy (Disease Ontology:DOID:1826)", "pathway": " (hsa:7915); (R-HSA-916853)", "pathway_count": 2, "publication_count": 33, "publication_id_list": "11237011;11243727;11901270;12208142;14635103;17081983;19300440;19608861;24275569;28446606;28510447;28514659;28904123;29557506;30379171;31217245;31844290;32161968;32209382;32350084;32596365;35051231;35138101;35251023;37962671;38110041;38658850;38791277;38862963;7814412;7851425;9059628;9683595", "class_list": "", "function": "ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations., [RefSeq, PubMed]; Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB]; Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder. Publication Status: Online-Only, [RefSeq, PubMed]; Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency. Publication Status: Online-Only, [RefSeq, PubMed]; Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants., [RefSeq, PubMed]; This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 2, "reported_mutagensis": 4, "reported_glycation": 0, "reported_snv": 4, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "monitoring", "glycan_count": 1, "disease_count": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B2RD26;G5E949;Q546H9;Q8N3W6", "ec_number_list": [ { "id": "1.2.1.24", "url": "https://www.rhea-db.org/rhea/?query=ec:1.2.1.24", "type": "external" } ], "go_molecular_function": "GO:0004777 succinate-semialdehyde dehydrogenase (NAD+) activity;GO:0042802 identical protein binding;GO:0016491 oxidoreductase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix", "go_biological_process": "GO:0006536 glutamate metabolic process;GO:0007417 central nervous system development;GO:0006105 succinate metabolic process;GO:0009450 gamma-aminobutyric acid catabolic process;GO:0019752 carboxylic acid metabolic process", "synthesized_glycan_count": 0, "hit_score": 3.6, "record_id": "P51649-1", "record_type": "protein", "filter_code": "0100000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q07837-1", "uniprot_id": [ { "id": "SLC31_HUMAN", "url": "https://www.uniprot.org/uniprot/Q07837", "type": "external" } ], "mass": 78852.0, "length": 685, "protein_name": "Amino acid transporter heavy chain SLC3A1", "gene_name": "SLC3A1", "organism": "Human", "refseq_name": "amino acid transporter heavy chain SLC3A1", "refseq_ac": [ { "id": "NP_000332", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000332", "type": "external" } ], "gene_names_uniprotkb": "SLC3A1; NBAT", "gene_names_refseq": "ATR1; CSNU1; D2H; NBAT; RBAT; SLC3A1", "protein_names_uniprotkb": "Amino acid transporter heavy chain SLC3A1; D2h; NBAT; Neutral and basic amino acid transport protein; Solute carrier family 3 member 1; b(0,+)-type amino acid transporter-related heavy chain; rBAT", "protein_names_refseq": "B(0,+)-type amino acid transport protein; amino acid transporter 1; amino acid transporter heavy chain SLC3A1; b(0,+)-type amino acid transporter-related heavy chain; neutral and basic amino acid transport protein rBAT; solute carrier family 3 (amino acid transporter heavy chain), member 1; solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1; solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1", "tax_id": 9606, "disease": "hypotonia-cystinuria syndrome (Disease Ontology:DOID:0060858); cystinuria (Disease Ontology:DOID:9266)", "pathway": " (hsa:6519); (R-HSA-352230); (R-HSA-5619113); (R-HSA-5660883)", "pathway_count": 4, "publication_count": 78, "publication_id_list": "10358010;10391915;10485994;10588648;10698697;10738006;10823827;10863037;10891391;10903140;10930503;11157794;11237011;11243884;11278508;11318953;11342143;11417227;11591158;11748844;11827462;12167606;12202949;12234283;12527723;12809675;12820697;12930836;15151999;15635077;15659399;15913950;15918515;16138908;16385448;16609684;16825196;18195088;18991276;19782624;21097500;21255007;24652292;24715725;27862975;29557506;31154438;31848261;32494597;32817565;33349102;34171305;35051231;36284347;37074911;37217939;37439839;37561200;38114997;7539209;7568194;7573036;7575432;7589472;7686906;8010975;8054986;8101838;8340364;8486766;8663184;8663357;8702519;8792820;8910405;9174363;9186880;9878049", "class_list": "glycogene;glycosylhydrolase", "function": "Acts as a chaperone that facilitates biogenesis and trafficking of functional transporter heteromers to the plasma membrane (By similarity) (PubMed:10588648, PubMed:11318953, PubMed:16609684, PubMed:16825196, PubMed:32494597, PubMed:32817565, PubMed:7686906, PubMed:8486766, PubMed:8663184, PubMed:8663357). Associates with SLC7A9 to form a functional transporter complex that mediates the electrogenic exchange between cationic amino acids and neutral amino acids, with a stoichiometry of 1:1. SLC7A9-SLC3A1 transporter has system b(0,+)-like activity with high affinity for extracellular cationic amino acids and L-cystine and lower affinity for intracellular neutral amino acids. Substrate exchange is driven by high concentration of intracellular neutral amino acids and the intracellular reduction of L-cystine to L-cysteine. SLC7A9-SLC3A1 acts as a major transporter for reabsorption of L-cystine and dibasic amino acids across the brush border membrane in early proximal tubules (PubMed:10588648, PubMed:11318953, PubMed:16609684, PubMed:16825196, PubMed:32494597, PubMed:32817565, PubMed:7686906, PubMed:8486766, PubMed:8663184, PubMed:8663357). Associates with SLC7A13 to form a functional complex that transports anionic and neutral amino acids via exchange or facilitated diffusion. SLC7A13-SLC3A1 may act as a major transporter for L-cystine in late proximal tubules, ensuring its reabsorption from the luminal fluid in exchange for cytosolic L-glutamate or L-aspartate (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, PubMed, UniProtKB]; Clinical profile of a Polish cohort of children and young adults with cystinuria., [RefSeq, PubMed]; Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability. Publication Status: Online-Only, [RefSeq, PubMed]; Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria. Publication Status: Online-Only, [RefSeq, PubMed]; Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain. Publication Status: Online-Only, [RefSeq, PubMed]; Structural basis for amino acid exchange by a human heteromeric amino acid transporter., [RefSeq, PubMed]; This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [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": 4, "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": 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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1196, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 37, "disease_count": 2, "glyco_site_count": 6, "binding_glycan_count": 0, "secondary_ac_list": "A8K0S1;O00658;Q15295;Q4J6B4;Q4J6B5;Q4J6B6;Q4J6B7;Q4J6B8;Q4J6B9;Q52M92;Q52M94", "ec_number_list": [], "go_molecular_function": "GO:0046982 protein heterodimerization activity;GO:0044877 protein-containing complex binding;GO:0015171 amino acid transmembrane transporter activity;GO:0015184 L-cystine transmembrane transporter activity;GO:0015174 basic amino acid transmembrane transporter activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane;GO:0070062 extracellular exosome;GO:0005774 vacuolar membrane;GO:0031526 brush border membrane", "go_biological_process": "GO:0015802 basic amino acid transport;GO:0005975 carbohydrate metabolic process;GO:0006865 amino acid transport;GO:0015811 L-cystine transport;GO:0010467 gene expression", "synthesized_glycan_count": 0, "hit_score": 12.1, "record_id": "Q07837-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000010001.101.10100", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q14714-1", "uniprot_id": [ { "id": "SSPN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q14714", "type": "external" } ], "mass": 26618.0, "length": 243, "protein_name": "Sarcospan", "gene_name": "SSPN", "organism": "Human", "refseq_name": "sarcospan isoform 2", "refseq_ac": [ { "id": "NP_001129295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001129295", "type": "external" } ], "gene_names_uniprotkb": "SSPN; KRAG", "gene_names_refseq": "DAGA5; KRAG; NSPN; SPN1; SPN2; SSPN", "protein_names_uniprotkb": "Sarcospan; K-ras oncogene-associated protein; Kirsten-ras-associated protein", "protein_names_refseq": "K-ras oncogene-associated protein; kirsten-ras-associated protein; microspan; nanospan; sarcospan (Kras oncogene-associated gene); sarcospan isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:8082); (R-HSA-9913351)", "pathway_count": 2, "publication_count": 61, "publication_id_list": "10022829;10189375;10441321;10545507;10893187;10932245;10942431;11230166;11237011;11352924;11430802;11495720;12189167;1319059;15175026;16524571;17905726;18764929;19346169;19946898;20044576;20628086;20935629;22159078;22223806;25576301;25645385;27060448;27397612;27600516;27798107;27846572;28228285;28406175;29557506;29769354;30418433;31844290;32157095;3282674;36284347;7527495;7547961;7592992;7844150;7925941;8043271;8268918;8349731;8576247;8607994;8627307;8661122;8798547;8845841;9214383;9395445;9405466;9412493;9652404;9864373", "class_list": "", "function": "Component of the dystrophin-glycoprotein complex (DGC), a complex that spans the muscle plasma membrane and forms a link between the F-actin cytoskeleton and the extracellular matrix. Preferentially associates with the sarcoglycan subcomplex of the DGC., [UniProtKB]; Data indicate that Sspn is an Nkx2-5 modifier gene. Complete loss of Sspn function does not cause heart defects but does increase the incidence of muscular ventricular septal defects (VSDs) in combination with an Nkx2-5 mutation. Publication Status: Online-Only, [RefSeq, PubMed]; Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) Erratum:[Nat Genet. 2011 Nov;43(11):1164], [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Our data suggest TWIST1 and SSPN to be the functionally relevant androgenetic alopecia genes at the 7p21.1 and 12p12.1 risk loci, respectively., [RefSeq, PubMed]; This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]., [RefSeq]; When human SSPN is expressed at three-fold levels in mdx mice, this increase in adhesion complex abundance improves muscle membrane stability, preventing many of the histopathological changes associated with Duchenne muscular dystrophy, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "B3KS67", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016010 dystrophin-associated glycoprotein complex;GO:0000139 Golgi membrane;GO:0005886 plasma membrane;GO:0031594 neuromuscular junction;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0006936 muscle contraction;GO:0007155 cell adhesion;GO:0043010 camera-type eye development", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q14714-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5JTZ9-1", "uniprot_id": [ { "id": "SYAM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5JTZ9", "type": "external" } ], "mass": 107340.0, "length": 985, "protein_name": "Alanine--tRNA ligase, mitochondrial", "gene_name": "AARS2", "organism": "Human", "refseq_name": "alanine--tRNA ligase, mitochondrial", "refseq_ac": [ { "id": "NP_065796", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065796", "type": "external" } ], "gene_names_uniprotkb": "AARS2; AARSL; KIAA1270", "gene_names_refseq": "AARS2; AARSL; COXPD8; LKENP; MT-ALARS; MTALARS", "protein_names_uniprotkb": "Alanine--tRNA ligase, mitochondrial; 6.-.-.-; 6.1.1.7; AlaRS; Alanyl-tRNA synthetase; Protein lactyltransferase AARS2", "protein_names_refseq": "alanine tRNA ligase 2, mitochondrial (putative); alanine--tRNA ligase, mitochondrial; alanyl-tRNA synthetase 2, mitochondrial (putative); alanyl-tRNA synthetase like; probable alanyl-tRNA synthetase, mitochondrial; protein lactyltransferase AARS2", "tax_id": 9606, "disease": "cerebellar ataxia (Disease Ontology:DOID:0050753); progressive leukoencephalopathy with ovarian failure (Disease Ontology:DOID:0070396); combined oxidative phosphorylation deficiency 8 (Disease Ontology:DOID:0111479); dermatomyositis (Disease Ontology:DOID:10223); Charcot-Marie-Tooth disease (Disease Ontology:DOID:10595); microcephaly (Disease Ontology:DOID:10907); axonal neuropathy (Disease Ontology:DOID:7319)", "pathway": " (hsa:57505); (R-HSA-379726)", "pathway_count": 2, "publication_count": 42, "publication_id_list": "10329163;10684970;10764807;10828066;12690580;15274629;15779907;16300924;17384640;17847012;20068231;21549344;22277967;23301498;24808023;26992070;27251004;28510447;29508533;30315122;31492838;31844290;32387766;32938616;32983136;33298915;33912179;33972171;34087483;34229054;34357683;34509645;34585293;35051231;36241641;37990642;39322678;40914422;7755634;8078941;9278442;9466989", "class_list": "", "function": "A new phenotype caused by AARS2 mutations is characterized by leukoencephalopathy and ovarian failure in female patients, indicating that the phenotypic spectrum associated with AARS2 variants is much wider than previously reported., [RefSeq, PubMed]; AARS2 as a novel biomarker for prognosis and its molecular characterization in pan-cancer., [RefSeq, PubMed]; Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain (PubMed:21549344). In presence of high levels of lactate, also acts as a protein lactyltransferase that mediates lactylation of lysine residues in target proteins, such as CGAS (PubMed:39322678). Acts as an inhibitor of cGAS/STING signaling by catalyzing lactylation of CGAS, preventing the formation of liquid-like droplets in which CGAS is activated (PubMed:39322678)., [UniProtKB, PubMed, PubMed]; Mutations in AARS2 found in lethal mitochondrial myopathy, [RefSeq, PubMed]; Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations., [RefSeq, PubMed]; The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]., [RefSeq]; We describe a Japanese woman with novel compound heterozygous mutations in AARS2, the first report of leukodystrophy caused by AARS2 mutations in Asia., [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": 6, "reported_glycation": 0, "reported_snv": 25, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 7, "glyco_site_count": 2, "binding_glycan_count": 0, "secondary_ac_list": "A2RRN5;Q8N198;Q96D02;Q9ULF0", "ec_number_list": [ { "id": "6.1.1.7", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.7", "type": "external" }, { "id": "6.-.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:6.-.-.-", "type": "external" } ], "go_molecular_function": "GO:0002161 aminoacyl-tRNA deacylase activity;GO:0005524 ATP binding;GO:0008270 zinc ion binding;GO:0000049 tRNA binding;GO:0004813 alanine-tRNA ligase activity", "go_cellular_component": "GO:0005739 mitochondrion", "go_biological_process": "GO:0070143 mitochondrial alanyl-tRNA aminoacylation;GO:0160049 negative regulation of cGAS/STING signaling pathway", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "Q5JTZ9-1", "record_type": "protein", "filter_code": "0000000.1100111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5VSR9-1", "uniprot_id": [ { "id": "SPXN1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5VSR9", "type": "external" } ], "mass": 8263.0, "length": 72, "protein_name": "Sperm protein associated with the nucleus on the X chromosome N1", "gene_name": "SPANXN1", "organism": "Human", "refseq_name": "sperm protein associated with the nucleus on the X chromosome N1", "refseq_ac": [ { "id": "NP_001009614", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001009614", "type": "external" } ], "gene_names_uniprotkb": "SPANXN1", "gene_names_refseq": "CT11.6; SPANXN1", "protein_names_uniprotkb": "Sperm protein associated with the nucleus on the X chromosome N1; Nuclear-associated protein SPAN-Xn1; SPANX family member N1; SPANX-N1", "protein_names_refseq": "cancer/testis antigen family 11, member 6; nuclear-associated protein SPAN-Xn1; sperm protein associated with the nucleus on the X chromosome N1", "tax_id": 9606, "disease": "", "pathway": " (hsa:494118)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "14973187;16251457;30379171", "class_list": "", "function": "This gene represents one of several duplicated family members that are located on chromosome X. This gene family encodes proteins that play a role in spermiogenesis. These proteins represent a specific subgroup of cancer/testis-associated antigens, and they may be candidates for tumor vaccines. This family member belongs to a subgroup of related genes that are present in all primates and rats and mice, and thus, it represents one of the ancestral family members. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q5VSR9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6PI48-1", "uniprot_id": [ { "id": "SYDM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6PI48", "type": "external" } ], "mass": 73563.0, "length": 645, "protein_name": "Aspartate--tRNA ligase, mitochondrial", "gene_name": "DARS2", "organism": "Human", "refseq_name": "aspartate--tRNA ligase, mitochondrial isoform 1", "refseq_ac": [ { "id": "NP_060592", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_060592", "type": "external" } ], "gene_names_uniprotkb": "DARS2", "gene_names_refseq": "ASPRS; CMT2LL; DARS2; LBSL; MT-ASPRS; mtAspRS", "protein_names_uniprotkb": "Aspartate--tRNA ligase, mitochondrial; 6.1.1.12; AspRS; Aspartyl-tRNA synthetase", "protein_names_refseq": "aspartate tRNA ligase 2, mitochondrial; aspartate--tRNA ligase, mitochondrial isoform 1; aspartate--tRNA ligase, mitochondrial; aspartyl-tRNA synthetase, mitochondrial", "tax_id": 9606, "disease": "leukodystrophy (Disease Ontology:DOID:10579); leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome (MONDO:MONDO:0012622); Charcot-Marie-Tooth disease, axonal, type 2LL (MONDO:MONDO:0980969)", "pathway": " (hsa:55157); (R-HSA-379726)", "pathway_count": 2, "publication_count": 58, "publication_id_list": "10329163;10684970;10764807;10828066;11237011;12690580;15274629;15779907;16300924;17384640;17847012;19209188;19592391;19608861;20068231;23186163;23275545;24715725;25880248;26154972;26811146;26992070;27846572;27862975;28832583;28904123;29437277;29493099;30006346;31217245;31844290;32157095;32265295;32357974;32488085;32938616;33141586;33298915;33717175;33912179;33936100;34087483;34171305;34229054;34357683;34932366;35051231;35580925;36010968;37950542;38382106;38790244;39039092;40814755;7755634;8078941;9278442;9466989", "class_list": "", "function": "Catalyzes the attachment of aspartate to tRNA(Asp) in a two-step reaction: aspartate is first activated by ATP to form Asp-AMP and then transferred to the acceptor end of tRNA(Asp)., [UniProtKB, UniProtKB, UniProtKB, PubMed, PubMed, PubMed]; DARS2 mutations cause childhood-to-adolescence onset leucoencephalopathy, but they do not seem to be associated with multiple sclerosis., [RefSeq, PubMed]; DARS2 promotes the occurrence of lung adenocarcinoma via the ERK/c-Myc signaling pathway., [RefSeq, PubMed]; Functional enrichment analysis reveals the involvement of DARS2 in multiple biological pathways and its potential as a therapeutic target in esophageal carcinoma., [RefSeq, PubMed]; Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation. Publication Status: Online-Only, [RefSeq, PubMed]; Meta-analysis of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Mutations in DARS2, which encodes mitochondrial aspartyl-tRNA synthetase, in affected individuals with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation., [RefSeq, PubMed]; The gene for mitochondrial aspartyl-tRNA synthetase is described and the initial characterization of the enzyme is reported. Genes for the remaining missing human synthetases have also been found with the exception of glutaminyl-tRNA synthetase., [RefSeq, PubMed]; The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 3, "reported_mutagensis": 7, "reported_glycation": 0, "reported_snv": 7, "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": [ { "id": "6.1.1.12", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.12", "type": "external" } ], "go_molecular_function": "GO:0004815 aspartate-tRNA ligase activity;GO:0050560 aspartate-tRNA(Asn) ligase activity;GO:0005524 ATP binding;GO:0042803 protein homodimerization activity;GO:0000049 tRNA binding", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0031966 mitochondrial membrane", "go_biological_process": "GO:0070145 mitochondrial asparaginyl-tRNA aminoacylation;GO:0006422 aspartyl-tRNA aminoacylation;GO:0043039 tRNA aminoacylation;GO:0006418 tRNA aminoacylation for protein translation", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q6PI48-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZW31-1", "uniprot_id": [ { "id": "SYDE1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZW31", "type": "external" } ], "mass": 79793.0, "length": 735, "protein_name": "Rho GTPase-activating protein SYDE1", "gene_name": "SYDE1", "organism": "Human", "refseq_name": "rho GTPase-activating protein SYDE1 isoform 2", "refseq_ac": [ { "id": "NP_001287839", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287839", "type": "external" } ], "gene_names_uniprotkb": "SYDE1", "gene_names_refseq": "7h3; SYD1; SYDE1", "protein_names_uniprotkb": "Rho GTPase-activating protein SYDE1; Protein syd-1 homolog 1; Synapse defective protein 1 homolog 1", "protein_names_refseq": "protein syd-1 homolog 1; rho GTPase-activating protein SYDE1 isoform 2; rho GTPase-activating protein SYDE1; synapse defective 1, Rho GTPase, homolog 1; synapse defective Rho GTPase homolog 1; synapse defective protein 1 homolog 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:85360); (R-HSA-9013148); (R-HSA-9013404); (R-HSA-9013406); (R-HSA-9013409); (R-HSA-9013423); (R-HSA-9035034)", "pathway_count": 7, "publication_count": 265, "publication_id_list": "10232922;10464238;10490598;10523665;10523675;10526156;10559246;10579713;10618392;10699171;10699464;10724160;10847683;10873802;10967094;11007481;11058585;11085924;11145705;11149925;11185749;11237011;11306516;11373293;11396949;11431473;11432776;11584276;11606631;11672528;11696321;11704860;11756552;11773441;11804587;11804589;11804590;11884391;11912491;11919634;11948177;11956649;12071859;12093360;12096337;12172552;12195014;12221096;12242347;12351724;12432077;12456725;12464619;12531887;12547822;12650940;12773384;12857875;12860998;12877655;12907671;14506234;14512443;1464587;14675773;15023524;15064355;15107133;15133129;15147912;15157669;15169870;15260990;15302923;15304341;15342493;15485661;15542837;15546864;15601624;15611138;15710388;15728722;15814684;15850391;15897194;16081809;16112081;16116428;16184169;16217026;16243035;16243036;16519628;1660188;16630611;16714282;16777452;16777849;16862148;16896804;16968698;17060455;17064668;17077126;17145773;17158234;17196961;17214551;17244649;17269730;17599059;17698854;17702745;17765681;17804252;17932950;17976533;18045877;18056264;18191593;18218625;18363964;18426980;18653540;18662984;18669648;18697831;18772397;18786931;18835169;18838382;18929667;19258391;19269969;19534724;19605563;19713215;19934221;20233848;20679435;21119010;21148482;21151158;21378159;21454492;21542010;21565175;21613211;21685891;21865595;21989057;22004470;22096251;22298643;22461490;22571869;22608513;22970203;22971344;23029280;23096567;23186163;23200924;23255595;23406282;23434736;23572525;23718289;23757206;23870057;24086303;24259668;24275569;24297911;24335996;24352656;24355937;24584464;24623723;24933155;24996924;25024229;25211221;25668492;25678704;25704760;25721503;25795300;25862245;25963737;26016997;26129894;26299518;26529257;26598554;26628301;26887924;27096001;27145964;27216196;27278019;27481945;27555588;27713499;27798618;27917469;28028151;28196833;28356423;28825699;28860633;30061681;30620550;30853411;31389670;31844290;31871319;32157095;32203420;32302585;32488085;32938616;33592498;33968037;34171305;35051231;35580925;36010968;36284347;7479768;7512369;7673236;7721814;7753201;8021274;8537347;8643598;8645157;8649427;8662891;8670801;8756646;8769096;8798539;8805223;8810315;8816443;8994827;9013646;9113980;9252344;9268338;9305890;9405671;9438849;9490638;9497316;9659915;9670022;9705280;9829970;9843499;9846874;9857026", "class_list": "", "function": "A novel mechanism for GCM1 and SYDE1 in regulation of trophoblast cell migration and invasion during placental development, [RefSeq, PubMed]; GTPase activator for the Rho-type GTPases. As a GCM1 downstream effector, it is involved in placental development and positively regulates trophoblast cells migration. It regulates cytoskeletal remodeling by controlling the activity of Rho GTPases including RHOA, CDC42 and RAC1 (PubMed:27917469)., [UniProtKB, PubMed, UniProtKB, UniProtKB]; The protein encoded by this gene is a Rho GTPase-activating protein highly expressed in placenta. The encoded protein is involved in cytoskeletal remodeling and trophoblast cell migration. Decreased expression of this gene has been associated with intrauterine growth restriction (IUGR). [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": 13, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 14, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q7L2I8;Q8N6J2;Q9H8K4", "ec_number_list": [], "go_molecular_function": "GO:0005096 GTPase activator activity;GO:0030695 GTPase regulator activity", "go_cellular_component": "GO:0097060 synaptic membrane", "go_biological_process": "GO:0007165 signal transduction;GO:0016477 cell migration;GO:0030036 actin cytoskeleton organization;GO:1901165 positive regulation of trophoblast cell migration;GO:0090630 activation of GTPase activity", "synthesized_glycan_count": 0, "hit_score": 26.8, "record_id": "Q6ZW31-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTT4-1", "uniprot_id": [ { "id": "SSX8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTT4", "type": "external" } ], "mass": 21859.0, "length": 187, "protein_name": "Putative protein SSX8", "gene_name": "SSX8P", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SSX8P; SSX8", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative protein SSX8", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 2, "publication_id_list": "12216073;28649982", "class_list": "", "function": "Could act as a modulator of transcription., [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": 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": "A6NJM6", "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": 0.3, "record_id": "Q7RTT4-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z572-1", "uniprot_id": [ { "id": "SPT21_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z572", "type": "external" } ], "mass": 52207.0, "length": 469, "protein_name": "Spermatogenesis-associated protein 21", "gene_name": "SPATA21", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 21 isoform 1", "refseq_ac": [ { "id": "NP_940948", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_940948", "type": "external" } ], "gene_names_uniprotkb": "SPATA21", "gene_names_refseq": "SPATA21; spergen-2; spergen2", "protein_names_uniprotkb": "Spermatogenesis-associated protein 21", "protein_names_refseq": "spermatogenesis-associated protein 21 isoform 1; spermatogenesis-associated protein 21", "tax_id": 9606, "disease": "", "pathway": " (hsa:374955)", "pathway_count": 1, "publication_count": 5, "publication_id_list": "11237011;16959974;28904123;31844290;35051231", "class_list": "", "function": "Involved in the differentiation of haploid spermatids., [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": "B9EK40;F5GXP5", "ec_number_list": [], "go_molecular_function": "GO:0005509 calcium ion binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q7Z572-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z7C7-1", "uniprot_id": [ { "id": "STRA8_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z7C7", "type": "external" } ], "mass": 36908.0, "length": 330, "protein_name": "Stimulated by retinoic acid gene 8 protein homolog", "gene_name": "STRA8", "organism": "Human", "refseq_name": "stimulated by retinoic acid gene 8 protein homolog isoform 2", "refseq_ac": [ { "id": "NP_872295", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_872295", "type": "external" } ], "gene_names_uniprotkb": "STRA8", "gene_names_refseq": "STRA8", "protein_names_uniprotkb": "Stimulated by retinoic acid gene 8 protein homolog", "protein_names_refseq": "stimulated by retinoic acid gene 8 protein homolog isoform 2; stimulated by retinoic acid gene 8 protein homolog", "tax_id": 9606, "disease": "", "pathway": " (hsa:346673)", "pathway_count": 1, "publication_count": 10, "publication_id_list": "11237011;12489526;18799751;23320086;26742488;28121444;28718531;31492838;33236849;35051231", "class_list": "", "function": "Expression restricted to testis (STRA8), [RefSeq, PubMed]; Functional characterization of an homologous mouse gene., [RefSeq, PubMed]; Meiosis-inducer required for the transition into meiosis for both female and male germ cells. In female germ cells, acts downstream of ZGLP1 as a key effector of the meiotic program: required for premeiotic DNA replication and subsequent events in meiotic prophase. During spermatogenesis, next to its role in meiotic initiation, promotes (but is not required for) spermatogonial differentiation. In complex with MEIOSIN, directly activates the transcription of a subset of critical meiotic genes playing a central role in cell-cycle switching from mitosis to meiosis., [UniProtKB, UniProtKB]; Stimulated by retinoic acid gene 8 (STRA8) interacts with the germ cell specific bHLH factor SOHLH1 and represses c-KIT expression in vitro., [RefSeq, PubMed]; The genetic variant rs10269148 of STRA8 gene shows higher risk of spermatogenic impairment in the groups of abnormospermia than the controls, [RefSeq, PubMed]; This gene encodes a retinoic acid-responsive protein. A homologous protein in mouse has been shown to be involved in the regulation of meiotic initiation in both spermatogenesis and oogenesis, though feature differences between the mouse and human proteins suggest that these homologs are not entirely functionally equivalent. It is thought that this gene may play a role in spermatogenesis in humans. [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": 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": "", "ec_number_list": [], "go_molecular_function": "GO:0046983 protein dimerization activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0006357 regulation of transcription by RNA polymerase II;GO:0007283 spermatogenesis;GO:0071300 cellular response to retinoic acid;GO:0006260 DNA replication", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q7Z7C7-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NB90-1", "uniprot_id": [ { "id": "AFG2A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NB90", "type": "external" } ], "mass": 97904.0, "length": 893, "protein_name": "ATPase family gene 2 protein homolog A", "gene_name": "AFG2A", "organism": "Human", "refseq_name": "ATPase family gene 2 protein homolog A isoform 2", "refseq_ac": [ { "id": "NP_001304728", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304728", "type": "external" } ], "gene_names_uniprotkb": "AFG2A; SPAF; SPATA5", "gene_names_refseq": "AFG2A; AFG2; EHLMRS; NEDHSB; SPAF; SPATA5", "protein_names_uniprotkb": "ATPase family gene 2 protein homolog A; 3.6.4.10; AFG2 AAA ATPase homolog A; Ribosome biogenesis protein SPATA5; Spermatogenesis-associated factor protein; Spermatogenesis-associated protein 5", "protein_names_refseq": "AFG2 AAA ATPase homolog A; ATPase family gene 2 homolog; ATPase family gene 2 protein homolog A isoform 2; ATPase family gene 2 protein homolog A; ATPase family protein 2 homolog; ribosome biogenesis protein SPATA5; spermatogenesis associated 5; spermatogenesis associated factor SPAF; spermatogenesis-associated factor protein; spermatogenesis-associated protein 5", "tax_id": 9606, "disease": "microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome (MONDO:MONDO:0014698)", "pathway": " (hsa:166378)", "pathway_count": 1, "publication_count": 37, "publication_id_list": "11237011;18445686;20068231;22027810;23301498;23481700;25505266;26299366;27246907;28293831;28904123;29437277;29557506;30410026;30429286;31844290;32119511;32157095;32387766;32488085;32897882;32938616;33298915;33912179;33936100;33968037;33981976;34357683;34360601;34561969;35051231;35354024;35580925;36284347;38554706;40307207;40914422", "class_list": "", "function": "ATP-dependent chaperone 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). Plays an essential role 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, PubMed:38554706). May be involved in morphological and functional mitochondrial transformations during spermatogenesis (By similarity)., [UniProtKB, UniProtKB, PubMed, PubMed]; Labeling of heterochronic ribosomes reveals C1ORF109 and SPATA5 control a late step in human ribosome assembly., [RefSeq, PubMed]; Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss., [RefSeq, PubMed]; SPATA5 locus is a new susceptibility locus for Alopecia areata (AA)., [RefSeq, PubMed]; This gene encodes a member of the ATPase associated with diverse activities family, whose members are defined by a highly conserved ATPase domain. Members of this family participate in diverse cellular processes that include membrane fusion, DNA replication, microtubule severing, and protein degradation. The protein encoded by this gene has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of mitochondrial function and integrity during mouse spermatogenesis. Allelic variants in this gene have been associated with epilepsy, hearing loss, and cognitive disability syndrome. 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": 4, "reported_mutagensis": 2, "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": "C9JT97;Q86XW1;Q8NI20;Q8TDL7", "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:1990275 preribosome binding;GO:0005524 ATP binding;GO:0016887 ATP hydrolysis activity;GO:0044877 protein-containing complex binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005819 spindle;GO:0005829 cytosol", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation;GO:0042273 ribosomal large subunit biogenesis;GO:0006260 DNA replication;GO:0007420 brain development", "synthesized_glycan_count": 0, "hit_score": 4.0, "record_id": "Q8NB90-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEQ6-1", "uniprot_id": [ { "id": "SRARP_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEQ6", "type": "external" } ], "mass": 17657.0, "length": 169, "protein_name": "Steroid receptor-associated and regulated protein", "gene_name": "SRARP", "organism": "Human", "refseq_name": "steroid receptor-associated and regulated protein", "refseq_ac": [ { "id": "NP_849162", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_849162", "type": "external" } ], "gene_names_uniprotkb": "SRARP; C1orf64; ERRF; SSPR", "gene_names_refseq": "C1orf64; ERRF; SRARP", "protein_names_uniprotkb": "Steroid receptor-associated and regulated protein; ER-related factor; Estrogen receptor-related factor; Steroid receptor-regulated protein", "protein_names_refseq": "ER-related factor; estrogen receptor-related factor; steroid receptor-associated and regulated protein; steroid receptor-regulated protein; uncharacterized protein C1orf64", "tax_id": 9606, "disease": "", "pathway": " (hsa:149563)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "16959974;22341523;27125460;28228285;28915724;29577611;32706923;35051231", "class_list": "", "function": "Further mechanism study proved ERRF to be an interacting partner of ERalpha. In total, these data revealed that ERRF is essential for the activity of E2-ERalpha pathway., [RefSeq, PubMed]; May regulate the transcriptional function of androgen and estrogen receptors., [UniProtKB, PubMed, PubMed]; SRARP and HSPB7 are tumor suppressors that are commonly inactivated in malignancies., [RefSeq, PubMed]; Steroid receptor-associated and regulated protein is a biomarker in predicting the clinical outcome and treatment response in malignancies., [RefSeq, PubMed]; These results suggest that ERRF plays a role in estrogen-ER-mediated growth of breast cancer cells., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 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": "B3KXI9", "ec_number_list": [], "go_molecular_function": "GO:0030331 nuclear estrogen receptor binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0033148 positive regulation of intracellular estrogen receptor signaling pathway", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q8NEQ6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCJ2-1", "uniprot_id": [ { "id": "STT3B_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCJ2", "type": "external" } ], "mass": 93674.0, "length": 826, "protein_name": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B", "gene_name": "STT3B", "organism": "Human", "refseq_name": "dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B", "refseq_ac": [ { "id": "NP_849193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_849193", "type": "external" } ], "gene_names_uniprotkb": "STT3B; SIMP", "gene_names_refseq": "CDG1X; SIMP; STT3-B; STT3B", "protein_names_uniprotkb": "Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B; 2.4.99.18; Oligosaccharyl transferase subunit STT3B; STT3-B; Source of immunodominant MHC-associated peptides homolog", "protein_names_refseq": "STT3, subunit of the oligosaccharyltransferase complex, homolog B; STT3B, catalytic subunit of the oligosaccharyltransferase complex; STT3B, subunit of the oligosaccharyltransferase complex (catalytic); dolichyl-diphosphooligosaccharide protein glycotransferase; dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B; homolog of yeast STT3; oligosaccharyl transferase subunit STT3B; source of immunodominant MHC-associated peptides homolog", "tax_id": 9606, "disease": "congenital disorder of glycosylation Iw (Disease Ontology:DOID:0080572); congenital disorder of glycosylation Ix (Disease Ontology:DOID:0080573)", "pathway": " (hsa:201595); (R-HSA-446203); (R-HSA-9694548); (R-HSA-9918432); (R-HSA-9926550); (R-HSA-9931295)", "pathway_count": 6, "publication_count": 167, "publication_id_list": "10.1101/2023.09.13.557529;10228156;11237011;11470266;11518510;12089159;12171918;12439619;12678917;12887896;12893276;14514716;14688233;15001579;16317064;17081983;18452278;18669648;18691976;18767875;19159218;19167329;19415658;19590037;19651622;19690332;19691289;19835842;19940119;20068231;20112406;20418909;20798515;21406692;22607976;22645359;22915798;23090970;23186163;23481700;23606741;23842455;24112972;24190977;24366607;24397554;24715725;25135935;25418920;25576301;25880248;25892735;26024233;26154972;26208004;26811146;26929215;26992070;27383988;27452731;27572267;27862975;27920218;28218747;28228285;28228593;2834401;28514659;28649982;28832583;28834231;28855257;28904123;29242379;29331515;29393594;29437277;29493099;29508533;29557506;29632046;29632711;29741879;29765039;29769354;29786170;30059200;30118680;30315122;30410026;30429286;30524438;30716301;30779550;31020640;31154438;31217245;31296534;31305264;31831667;31844290;32157095;32253875;32265295;32357974;32363391;32366695;32387766;32488085;32502341;32518941;32543734;32574038;32676595;32897882;32938616;32983136;33141586;33298915;33310888;33633747;33717175;33912179;33936100;33968037;34019948;34087483;34117209;34171305;34211107;34217213;34357683;34428449;34528721;34561969;34599882;34725712;34846842;34932366;34961524;35051231;35083852;35215835;35254053;35318648;35561310;35580925;36010968;36139350;36241641;36284347;36719382;37074911;37340703;37938771;37986328;38665916;38793607;38945975;39509507;39534244;40307207;40596516;6156677;7072193;7986008;9168821", "class_list": "glycogene;glycosyltransferase", "function": "Catalytic subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:19167329, PubMed:31296534, PubMed:31831667, PubMed:39509507). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER) (PubMed:19167329, PubMed:31296534, PubMed:31831667, PubMed:39509507). All subunits are required for a maximal enzyme activity. This subunit contains the active site and the acceptor peptide and donor lipid-linked oligosaccharide (LLO) binding pockets (PubMed:19167329, PubMed:31296534, PubMed:31831667, PubMed:39509507). STT3B is present in a small subset of OST complexes (OST-B) and mediates both cotranslational and post-translational N-glycosylation of target proteins: STT3B-containing complexes are required for efficient post-translational glycosylation and while they are less competent than STT3A-containing complexes for cotranslational glycosylation, they have the ability to mediate glycosylation of some nascent sites that are not accessible for STT3A (PubMed:19167329, PubMed:22607976, PubMed:31296534, PubMed:39509507). STT3B-containing complexes also act post-translationally and mediate modification of skipped glycosylation sites in unfolded proteins (PubMed:19167329, PubMed:22607976, PubMed:39509507). Plays a role in ER-associated degradation (ERAD) pathway that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins by mediating N-glycosylation of unfolded proteins, which are then recognized by the ERAD pathway and targeted for degradation (PubMed:19167329, PubMed:22607976). Mediates glycosylation of the disease variant AMYL-TTR 'Asp-38' of TTR at 'Asn-118', leading to its degradation (PubMed:19167329, PubMed:22607976)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; Proteome and Glycoproteome Analyses Reveal the Protein N-Linked Glycosylation Specificity of STT3A and STT3B. Publication Status: Online-Only, [RefSeq, PubMed]; STT3 proteins are the catalytic subunits of the oligosaccharyltransferase. Vertebrate, plant and insect genomes have an STT3A gene and a STT3B gene. SIMP is a member of the STT3B subfamily of STT3 proteins., [RefSeq, PubMed]; Stabilization of EREG via STT3B-mediated N-glycosylation is critical for PDL1 upregulation and immune evasion in head and neck squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; The STT3B isoform is required for efficient cotranslational glycosylation of an acceptor site adjacent to the N-terminal signal sequence of a secreted protein., [RefSeq, PubMed]; The protein encoded by this gene is a catalytic subunit of a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycosylation Ix (CDG1X). [provided by RefSeq, Jun 2014]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 6, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 4, "reported_o_glycosites_with_glycan": 9, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 6, "total_reported_o_glycosites": 9, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 6, "total_o_glycosites": 9, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 2, "reported_phosphosites": 7, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 667, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 47, "disease_count": 2, "glyco_site_count": 15, "binding_glycan_count": 0, "secondary_ac_list": "Q96JZ4;Q96KY7", "ec_number_list": [ { "id": "2.4.1.83", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.1.83", "type": "external" }, { "id": "5.3.4.1", "url": "https://www.rhea-db.org/rhea/?query=ec:5.3.4.1", "type": "external" }, { "id": "3.6.4.10", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.4.10", "type": "external" }, { "id": "2.4.99.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.4.99.18", "type": "external" } ], "go_molecular_function": "GO:0046872 metal ion binding;GO:0004579 dolichyl-diphosphooligosaccharide-protein glycotransferase activity", "go_cellular_component": "GO:0005783 endoplasmic reticulum;GO:0016020 membrane;GO:0005789 endoplasmic reticulum membrane;GO:0032991 protein-containing complex;GO:0008250 oligosaccharyltransferase complex", "go_biological_process": "GO:0043687 post-translational protein modification;GO:0006487 protein N-linked glycosylation;GO:0036503 ERAD pathway;GO:0006986 response to unfolded protein;GO:0006516 glycoprotein catabolic process", "synthesized_glycan_count": 0, "hit_score": 23.0, "record_id": "Q8TCJ2-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000000001.100.11000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WU08-1", "uniprot_id": [ { "id": "ST32A_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WU08", "type": "external" } ], "mass": 46369.0, "length": 396, "protein_name": "Serine/threonine-protein kinase 32A", "gene_name": "STK32A", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 32A isoform 1", "refseq_ac": [ { "id": "NP_001106195", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001106195", "type": "external" } ], "gene_names_uniprotkb": "STK32A; YANK1", "gene_names_refseq": "STK32A; YANK1", "protein_names_uniprotkb": "Serine/threonine-protein kinase 32A; 2.7.11.1; Yet another novel kinase 1", "protein_names_refseq": "A930015B13Rik; CTB-108O6.2; serine/threonine-protein kinase 32A isoform 1; serine/threonine-protein kinase 32A; yet another novel kinase 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:202374)", "pathway_count": 1, "publication_count": 9, "publication_id_list": "11237011;12471243;17344846;19845895;25043870;32157095;32938616;33968037;35051231", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Probable serine/threonine kinase with currently unidentified substrates. In the inner ear, functions as a planar cell polarity (PCP) factor acting antagonistically to EMX2. It regulates the orientation of stereociliary bundles in hair cells by interacting with the PCP signaling pathway in opposition to EMX2. Additionally, it may play a role in controlling the apical localization of the GPR156 receptor in inner ear hair cells., [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": 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": "B3KSY0", "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:0005886 plasma membrane", "go_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 1.0, "record_id": "Q8WU08-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8WWF3-1", "uniprot_id": [ { "id": "SSMM1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8WWF3", "type": "external" } ], "mass": 28167.0, "length": 244, "protein_name": "Serine-rich single-pass membrane protein 1", "gene_name": "SSMEM1", "organism": "Human", "refseq_name": "serine-rich single-pass membrane protein 1", "refseq_ac": [ { "id": "NP_660311", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_660311", "type": "external" } ], "gene_names_uniprotkb": "SSMEM1; C7orf45", "gene_names_refseq": "C7orf45; SSMEM1", "protein_names_uniprotkb": "Serine-rich single-pass membrane protein 1", "protein_names_refseq": "serine-rich single-pass membrane protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:136263)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "11237011;19562805;32301969;36215666", "class_list": "", "function": "Essential for regulating the timely and localized migration of the Golgi apparatus during spermiogenesis, facilitating proper sperm head formation and motility, thus playing a crucial role in male fertility., [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": 5, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q8WWF3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BRV3-1", "uniprot_id": [ { "id": "SWET1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BRV3", "type": "external" } ], "mass": 25030.0, "length": 221, "protein_name": "Sugar transporter SWEET1", "gene_name": "SLC50A1", "organism": "Human", "refseq_name": "sugar transporter SWEET1 isoform b", "refseq_ac": [ { "id": "NP_001116309", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001116309", "type": "external" } ], "gene_names_uniprotkb": "SLC50A1; RAG1AP1; SCP", "gene_names_refseq": "HsSWEET1; RAG1AP1; SCP; SLC50A1; SWEET1; slv", "protein_names_uniprotkb": "Sugar transporter SWEET1; HsSWEET1; RAG1-activating protein 1; Solute carrier family 50 member 1; Stromal cell protein", "protein_names_refseq": "RAG1-activating protein 1; RP11-540D14.5; RZPDo834D038D; probable sugar transporter RAG1AP1; recombination activating gene 1 activating protein 1; solute carrier family 50 (sugar efflux transporter), member 1; solute carrier family 50 (sugar transporter), member 1; stromal cell protein; sugar transporter SWEET1 isoform b; sugar transporter SWEET1", "tax_id": 9606, "disease": "", "pathway": " (hsa:55974); (R-HSA-189200)", "pathway_count": 2, "publication_count": 62, "publication_id_list": "10821868;10860667;10931946;10970791;10987651;11133510;11237011;11245466;11247674;11425315;11583593;11681785;11741323;11780755;11832379;11994746;12504846;12590146;12885248;1415574;14614622;14739288;14997204;15033637;15607332;15902306;16154905;16550171;17050778;1756912;17635959;18063724;18327257;1918382;20616166;21107422;21940664;22212718;22521588;23481700;25892735;2656669;26650681;28218747;28228285;28832583;28904123;29242379;29557506;30410026;30573663;31844290;32157095;32350084;32502341;32938616;33968037;34087483;34357683;8457197;9354798;9751501", "class_list": "", "function": "Mediates sugar transport across membranes. May stimulate V(D)J recombination by the activation of RAG1., [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": 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": "Q5SR64;Q6IAK6;Q96DC5;Q9UHQ2;Q9UHQ3", "ec_number_list": [], "go_molecular_function": "GO:0051119 sugar transmembrane transporter activity;GO:0042947 glucoside transmembrane transporter activity", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane;GO:0012505 endomembrane system", "go_biological_process": "GO:0008643 carbohydrate transport;GO:0008645 hexose transmembrane transport", "synthesized_glycan_count": 0, "hit_score": 6.3, "record_id": "Q9BRV3-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BWV2-1", "uniprot_id": [ { "id": "SPAT9_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BWV2", "type": "external" } ], "mass": 28740.0, "length": 254, "protein_name": "Spermatogenesis-associated protein 9", "gene_name": "SPATA9", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 9 isoform 1", "refseq_ac": [ { "id": "NP_114158", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114158", "type": "external" } ], "gene_names_uniprotkb": "SPATA9", "gene_names_refseq": "NYD-SP16; SPATA9", "protein_names_uniprotkb": "Spermatogenesis-associated protein 9; Testis development protein NYD-SP16", "protein_names_refseq": "CTD-2154I11.2; spermatogenesis-associated protein 9 isoform 1; spermatogenesis-associated protein 9; testicular tissue protein Li 179; testis development protein NYD-SP16", "tax_id": 9606, "disease": "", "pathway": " (hsa:83890)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12493713;16963046;35051231;36241641", "class_list": "", "function": "May play a role in testicular development/spermatogenesis and may be an important factor in male infertility., [UniProtKB, PubMed]; May play an important role in testicular development/spermatogenesis and may be an important factor in male infertility, [RefSeq, PubMed]; NYD-SP16 protein is component of sperm acrosome, which plays functional role in sperm capacitation and acrosome reaction and is consequently necessary for fertilization., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A8K8H3;Q4G122;Q86X33;Q8NA28", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "Q9BWV2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9H156-1", "uniprot_id": [ { "id": "SLIK2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9H156", "type": "external" } ], "mass": 95404.0, "length": 845, "protein_name": "SLIT and NTRK-like protein 2", "gene_name": "SLITRK2", "organism": "Human", "refseq_name": "SLIT and NTRK-like protein 2 precursor", "refseq_ac": [ { "id": "NP_001137475", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001137475", "type": "external" } ], "gene_names_uniprotkb": "SLITRK2; CXorf2; KIAA1854; PRO34756; SLITL1", "gene_names_refseq": "CXorf1; CXorf2; SLITL1; SLITRK2; TMEM257; XLID111", "protein_names_uniprotkb": "SLIT and NTRK-like protein 2", "protein_names_refseq": "SLIT and NTRK-like protein 2 precursor; SLIT and NTRK-like protein 2; slit and trk like gene 2; slit-like 1; transmembrane protein 257", "tax_id": 9606, "disease": "non-syndromic X-linked intellectual developmental disorder 111 (Disease Ontology:DOID:0060929)", "pathway": " (hsa:84631); (R-HSA-388844)", "pathway_count": 2, "publication_count": 31, "publication_id_list": "10.1101/2023.09.13.557529;12975309;14557068;15750591;19252495;19488044;20139422;20237496;20479760;21262467;21940441;22286174;22357843;23345436;24715725;25385546;25645385;25908590;27273464;27812321;28649982;29351928;29557506;30779550;32157095;33912179;34171305;35051231;35840571;7796809;9624153", "class_list": "", "function": "It is involved in synaptogenesis and promotes excitatory synapse differentiation (PubMed:27273464, PubMed:27812321, PubMed:35840571). Suppresses neurite outgrowth (By similarity). Involved in the negative regulation of NTRK2 (PubMed:35840571)., [UniProtKB, UniProtKB, PubMed, PubMed, 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, PubMed]; This gene encodes an integral membrane protein that contains two N-terminal leucine-rich repeats domains and contains C-terminal regions similar to neurotrophin receptors. The encoded protein may play a role in modulating neurite activity. Alternatively spliced transcript variants encoding the same protein have been described.[provided by RefSeq, Feb 2010]., [RefSeq]", "predicted_glycosites": 3, "predicted_n_glycosites": 2, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 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": 100, "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": "A8K117;Q2KHN3;Q5JXB1;Q8NBC7;Q96JH3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0098982 GABA-ergic synapse;GO:0005886 plasma membrane;GO:0030425 dendrite;GO:0045211 postsynaptic membrane", "go_biological_process": "GO:0007409 axonogenesis;GO:0051965 positive regulation of synapse assembly;GO:0099560 synaptic membrane adhesion;GO:0050807 regulation of synapse organization;GO:1905606 regulation of presynapse assembly", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9H156-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1100000011001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P0W8-1", "uniprot_id": [ { "id": "SPAT7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P0W8", "type": "external" } ], "mass": 67719.0, "length": 599, "protein_name": "Spermatogenesis-associated protein 7", "gene_name": "SPATA7", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 7 isoform 2", "refseq_ac": [ { "id": "NP_001035518", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001035518", "type": "external" } ], "gene_names_uniprotkb": "SPATA7; HSD3", "gene_names_refseq": "HEL-S-296; HSD-3.1; HSD3; LCA3; RP94; SPATA7", "protein_names_uniprotkb": "Spermatogenesis-associated protein 7; HSD-3.1; Spermatogenesis-associated protein HSD3", "protein_names_refseq": "epididymis secretory protein Li 296; epididymis secretory sperm binding protein; spermatogenesis-associated protein 7 isoform 2; spermatogenesis-associated protein HSD3", "tax_id": 9606, "disease": "Leber congenital amaurosis 3 (Disease Ontology:DOID:0110331)", "pathway": " (hsa:55812)", "pathway_count": 1, "publication_count": 34, "publication_id_list": "11230166;11237011;12736779;19268277;21602930;23481700;25398945;25892735;26167768;26992070;28481129;29411205;30524438;31844290;31908400;32157095;32357974;32387766;32488085;32938616;33298915;33537174;33592498;33968037;33981976;34087483;34171305;34509645;35051231;35494241;36010968;37164434;37938771;39894887", "class_list": "", "function": "Compound heterozygous c.1100A > G, p.(Y367C) and c.1102_1103delCT, p.(L368Efs*4) variants in SPATA7 manifest as an unusual RP phenotype in this case, showing extensive choroidal sclerosis and retinal pigment epithelium (RPE) atrophy with evidence of progression over two years on multimodal imaging., [RefSeq, PubMed]; Involved in the maintenance of both rod and cone photoreceptor cells (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as photoreceptor-specific localization of proximal CC proteins at the distal CC (By similarity). Maintenance of protein localization at the photoreceptor-specific distal CC is essential for normal microtubule stability and to prevent photoreceptor degeneration (By similarity)., [UniProtKB, UniProtKB]; Isolation and characterization of HSD-3.1 expressed in the testis, [RefSeq, PubMed]; Narrow arterioles, a relatively well-preserved macular region, and widespread retinal pigment epithelium atrophy resulting in diffuse mottling hypopigmentation in the midperipheral retina may be considered early and common fundus changes specific to SPATA7-associated retinopathy. Publication Status: Online-Only, [RefSeq, PubMed]; SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland., [RefSeq, PubMed]; This gene, originally isolated from testis, is also expressed in retina. Mutations in this gene are associated with Leber congenital amaurosis and juvenile retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]., [RefSeq]; We present the clinical and genetic findings of two siblings harboring the c.1112T>C/p.I371T homozygous mutation in the SPATA7 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": 1, "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": 1, "binding_glycan_count": 0, "secondary_ac_list": "Q5BKY5;Q8WX30;Q96HF3;Q9H0X0;Q9P0W7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0015630 microtubule cytoskeleton;GO:0005930 axoneme;GO:0036064 ciliary basal body;GO:0032391 photoreceptor connecting cilium;GO:0097225 sperm midpiece", "go_biological_process": "GO:1903621 protein localization to photoreceptor connecting cilium;GO:0007601 visual perception;GO:0045494 photoreceptor cell maintenance;GO:0000226 microtubule cytoskeleton organization;GO:1903546 protein localization to photoreceptor outer segment", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q9P0W8-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UHB9-1", "uniprot_id": [ { "id": "SRP68_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UHB9", "type": "external" } ], "mass": 70730.0, "length": 627, "protein_name": "Signal recognition particle subunit SRP68", "gene_name": "SRP68", "organism": "Human", "refseq_name": "signal recognition particle subunit SRP68 isoform 2", "refseq_ac": [ { "id": "NP_001247431", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001247431", "type": "external" } ], "gene_names_uniprotkb": "SRP68", "gene_names_refseq": "SCN10; SRP68", "protein_names_uniprotkb": "Signal recognition particle subunit SRP68; SRP68; Signal recognition particle 68 kDa protein", "protein_names_refseq": "signal recognition particle 68 kDa protein; signal recognition particle 68kDa; signal recognition particle subunit SRP68 isoform 2; signal recognition particle subunit SRP68", "tax_id": 9606, "disease": "severe congenital neutropenia (Disease Ontology:DOID:0050590); neutropenia, severe congenital, 10, autosomal recessive (MONDO:MONDO:0957809)", "pathway": " (hsa:6730); (R-HSA-1799339)", "pathway_count": 2, "publication_count": 110, "publication_id_list": "10618370;11237011;11964406;12853463;16469117;16672232;18083107;18088087;18166647;18455985;18669648;18691976;19608861;20068231;20444697;22424782;23186163;23481700;24700861;24715725;25576301;25645385;25810538;25880248;25892735;26154972;26375851;26768311;26853435;26992070;27397612;27600516;27846572;27862975;27893789;27899666;28218747;28228285;28369529;28510447;28649982;28832583;28834231;28904123;29242379;29393594;29493099;29508533;29557506;29632711;29769354;29786170;29789417;30315122;30410026;30429286;30524438;30779550;30833945;31154438;31217245;31222486;31844290;31848261;32157095;32273475;32350084;32357974;32387766;32488085;32502341;32870666;32938616;32983136;33141586;33298915;33392160;33537174;33592498;33633747;33691108;33717175;33912179;33968037;33981976;34019948;34020957;34171305;34185709;34211107;34357683;34509645;34725712;34932366;35051231;35138101;35251023;35318648;35561310;35580925;36010968;36215666;36241641;36284347;36581221;37938771;38665916;40307207;40914422;9631292", "class_list": "", "function": "Component of the signal recognition particle (SRP) complex, a ribonucleoprotein complex that mediates the cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER) (PubMed:34020957). The SRP complex interacts with the signal sequence in nascent secretory and membrane proteins and directs them to the membrane of the ER (PubMed:34020957). The SRP complex targets the ribosome-nascent chain complex to the SRP receptor (SR), which is anchored in the ER, where SR compaction and GTPase rearrangement drive cotranslational protein translocation into the ER (PubMed:34020957). Binds the signal recognition particle RNA (7SL RNA), SRP72 binds to this complex subsequently (PubMed:16672232, PubMed:27899666). The SRP complex possibly participates in the elongation arrest function (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; The RNA binding domain of SRP68 included residues from positions 52 to 252. Ninety-four amino acids near the C terminus of SRP68 mediated the binding to SRP72, [RefSeq, PubMed]; This gene encodes a subunit of the signal recognition particle (SRP). The SRP is a ribonucleoprotein complex that transports secreted and membrane proteins to the endoplasmic reticulum for processing. The complex includes a 7S RNA and six protein subunits. The encoded protein is the 68kDa component of the SRP, and forms a heterodimer with the 72kDa subunit that is required for SRP function. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and three pseudogenes of this gene are located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, May 2012]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 7, "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": "B3KUU5;B3KWY7;G3V1U4;Q8NCJ4;Q8WUK2", "ec_number_list": [], "go_molecular_function": "GO:0005047 signal recognition particle binding;GO:0030942 endoplasmic reticulum signal peptide binding;GO:0003723 RNA binding;GO:0019904 protein domain specific binding;GO:0008312 7S RNA binding", "go_cellular_component": "GO:0005786 signal recognition particle, endoplasmic reticulum targeting;GO:0005730 nucleolus;GO:0005783 endoplasmic reticulum;GO:0005829 cytosol;GO:0005840 ribosome", "go_biological_process": "GO:0009410 response to xenobiotic stimulus;GO:0006614 SRP-dependent cotranslational protein targeting to membrane;GO:0006617 SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition", "synthesized_glycan_count": 0, "hit_score": 11.3, "record_id": "Q9UHB9-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQF0-1", "uniprot_id": [ { "id": "SYCY1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQF0", "type": "external" } ], "mass": 59866.0, "length": 538, "protein_name": "Syncytin-1", "gene_name": "ERVW-1", "organism": "Human", "refseq_name": "syncytin-1 precursor", "refseq_ac": [ { "id": "NP_001124397", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124397", "type": "external" } ], "gene_names_uniprotkb": "ERVW-1; ERVWE1", "gene_names_refseq": "ENVW; ENV; ERVW-1; ERVWE1; HERV-7q; HERV-W-ENV; HERV7Q; HERVWENV; HERVW", "protein_names_uniprotkb": "Syncytin-1; Endogenous retrovirus group W member 1; Env-W; Envelope polyprotein gPr73; Enverin; HERV-7q Envelope protein; HERV-W envelope protein; HERV-W_7q21.2 provirus ancestral Env polyprotein; Syncytin; gp24; gp50", "protein_names_refseq": "HERV-7q envelope protein; HERV-W Env glycoprotein; HERV-W envelope protein; HERV-W_7q21.2 provirus ancestral Env polyprotein; HERV-tryptophan envelope protein; endogenous retroviral family W, env(C7), member 1; endogenous retrovirus group W, member 1; envelope glycoprotein; envelope polyprotein gPr73; enverin; human endogenous retrovirus W envC7-1 envelope protein; syncytin-1 precursor; syncytin-1", "tax_id": 9606, "disease": "", "pathway": " (hsa:30816)", "pathway_count": 1, "publication_count": 28, "publication_id_list": "10693809;10708449;10826480;11238877;11531410;11990458;12050356;12620933;12664292;12970426;14557543;14757826;15254254;15452578;15827173;23492904;25892735;29557506;32350084;35051231;36680208;36768581;36861469;37376599;37690733;38671230;9835022;9882319", "class_list": "", "function": "Ancient dormant virus remnant ERVW-1 drives ferroptosis via degradation of GPX4 and SLC3A2 in schizophrenia., [RefSeq, PubMed]; ERVW-1 Activates ATF6-Mediated Unfolded Protein Response by Decreasing GANAB in Recent-Onset Schizophrenia. Publication Status: Online-Only, [RefSeq, PubMed]; ERVWE1 Reduces Hippocampal Neuron Density and Impairs Dendritic Spine Morphology through Inhibiting Wnt/JNK Non-Canonical Pathway via miR-141-3p in Schizophrenia. Publication Status: Online-Only, [RefSeq, PubMed]; Endogenous envelope proteins may have kept, lost or modified their original function during evolution. Retroviral envelope proteins mediate receptor recognition and membrane fusion during early infection. The surface protein (SU) mediates receptor recognition, while the transmembrane protein (TM) acts as a class I viral fusion protein. The protein may have at least 3 conformational states: pre-fusion native state, pre-hairpin intermediate state, and post-fusion hairpin state. During viral and target cell membrane fusion, the coiled coil regions (heptad repeats) assume a trimer-of-hairpins structure, positioning the fusion peptide in close proximity to the C-terminal region of the ectodomain. The formation of this structure appears to drive apposition and subsequent fusion of membranes., [UniProtKB]; Env HERV-W glycoprotein mediates cell-cell fusion upon interaction with the type D mammalian retrovirus receptor. Env protein was detected in the placental syncytiotrophoblast, suggesting a physiological role during pregnancy and placenta formation., [RefSeq, PubMed]; Interaction between Long Noncoding RNAs and Syncytin-1/Syncytin-2 Genes and Transcripts: How Noncoding RNAs May Affect Pregnancy in Patients with Systemic Lupus Erythematosus. Publication Status: Online-Only, [RefSeq, PubMed]; Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are functionally important in reproduction. This gene is part of an HERV provirus on chromosome 7 that has inactivating mutations in the gag and pol genes. This gene is the envelope glycoprotein gene which appears to have been selectively preserved. The gene's protein product is expressed in the placental syncytiotrophoblast and is involved in fusion of the cytotrophoblast cells to form the syncytial layer of the placenta. The protein has the characteristics of a typical retroviral envelope protein, including a furin cleavage site that separates the surface (SU) and transmembrane (TM) proteins which form a heterodimer. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Mar 2010]., [RefSeq]; Serum circulating free DNA of syncytin-1 as a novel molecular marker for early diagnosis of non-small-cell lung cancer., [RefSeq, PubMed]; This endogenous retroviral envelope protein has retained its original fusogenic properties and participates in trophoblast fusion and the formation of a syncytium during placenta morphogenesis. May induce fusion through binding of SLC1A4 and SLC1A5 (PubMed:10708449, PubMed:12050356, PubMed:23492904)., [UniProtKB, PubMed, PubMed, PubMed]", "predicted_glycosites": 7, "predicted_n_glycosites": 7, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 33, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 7, "binding_glycan_count": 0, "secondary_ac_list": "B2RPD4;O95244;O95245;Q8NHY7;Q9NRZ2;Q9NZG3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane", "go_biological_process": "GO:0006949 syncytium formation;GO:0000768 syncytium formation by plasma membrane fusion;GO:0007520 myoblast fusion;GO:0009653 anatomical structure morphogenesis", "synthesized_glycan_count": 0, "hit_score": 2.9, "record_id": "Q9UQF0-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0DMP2-1", "uniprot_id": [ { "id": "SRG2B_HUMAN", "url": "https://www.uniprot.org/uniprot/P0DMP2", "type": "external" } ], "mass": 53406.0, "length": 458, "protein_name": "SLIT-ROBO Rho GTPase-activating protein 2B", "gene_name": "SRGAP2B", "organism": "Human", "refseq_name": "SLIT-ROBO Rho GTPase-activating protein 2B isoform 3", "refseq_ac": [ { "id": "NP_001353209", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001353209", "type": "external" } ], "gene_names_uniprotkb": "SRGAP2B; SRGAP2P2", "gene_names_refseq": "SRGAP2B; SRGAP2L; SRGAP2P2", "protein_names_uniprotkb": "SLIT-ROBO Rho GTPase-activating protein 2B; SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2", "protein_names_refseq": "SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2; SLIT-ROBO Rho GTPase activating protein 2B (pseudogene); SLIT-ROBO Rho GTPase-activating protein 2B isoform 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:647135)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "11237011;22559943;22559944;26992070;30429286;31822692", "class_list": "", "function": "May regulate cell migration and differentiation through interaction with and inhibition of SRGAP2 (PubMed:31822692). In contrast to SRGAP2C, it is not able to induce long-lasting changes in synaptic density throughout adulthood (PubMed:31822692)., [UniProtKB, PubMed, PubMed]; This locus encodes a member of the SLIT-ROBO Rho GTPase activating protein family. This human-specific locus resulted from incomplete segmental duplication of the SLIT-ROBO Rho GTPase activating protein 2 locus. The encoded protein lacks the GTPase activating protein domain compared to proteins encoded by SLIT-ROBO Rho GTPase activating protein 2. The functionality of the protein encoded by this locus has been questioned, as several normal individuals with homozygous deletions for this locus have been identified, and the expression of this locus appears to be much lower than the similar SLIT-ROBO Rho GTPase activating protein 2C (SRGAP2C) locus. The SRGAP2C locus has been shown to encode a protein that functions antagonistically to SLIT-ROBO Rho GTPase activating protein 2 in cortical neuron development. [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": 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:0005096 GTPase activator activity", "go_cellular_component": "GO:0098978 glutamatergic synapse;GO:0043197 dendritic spine", "go_biological_process": "GO:0007399 nervous system development;GO:0030336 negative regulation of cell migration;GO:0051963 regulation of synapse assembly", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "P0DMP2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "E0CX11-1", "uniprot_id": [ { "id": "STMP1_HUMAN", "url": "https://www.uniprot.org/uniprot/E0CX11", "type": "external" } ], "mass": 5265.0, "length": 47, "protein_name": "Short transmembrane mitochondrial protein 1", "gene_name": "STMP1", "organism": "Human", "refseq_name": "short transmembrane mitochondrial protein 1 precursor", "refseq_ac": [ { "id": "NP_001124401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124401", "type": "external" } ], "gene_names_uniprotkb": "STMP1; C7orf73", "gene_names_refseq": "C7orf73; Mm47; Mtlbn; PL-5283; STMP1", "protein_names_uniprotkb": "Short transmembrane mitochondrial protein 1", "protein_names_refseq": "mitolamban; short transmembrane mitochondrial protein 1 precursor; uncharacterized protein C7orf73", "tax_id": 9606, "disease": "", "pathway": " (hsa:647087)", "pathway_count": 1, "publication_count": 23, "publication_id_list": "11237011;17720804;23073385;27893789;28904123;29557506;29789417;30192525;30484775;30705363;30779550;31836654;32357974;32387766;32938616;33298915;33392160;33592498;35073737;35450818;35544764;36241641;37938771", "class_list": "", "function": "Coxiella burnetii Sterol-Modifying Protein Stmp1 Regulates Cholesterol in the Intracellular Niche., [RefSeq, PubMed]; Genetic regulatory mechanisms in human osteoclasts suggest a role for the STMP1 and DCSTAMP genes in Paget's disease of bone. Publication Status: Online-Only, [RefSeq, PubMed]; Microprotein involved in mitochondrial respiratory chain complex III (ubiquinol-cytochrome c oxidoreductase) and complex IV (mitochondrial cytochrome c oxidase complex) assembly (PubMed:35450818). Required for the formation of mitochondrial supercomplexes (SCs) (PubMed:35450818). Also required for the activation of the NLRP3 inflammasome (By similarity)., [UniProtKB, UniProtKB, PubMed]; Mitochondrial Micropeptide STMP1 Enhances Mitochondrial Fission to Promote Tumor Metastasis., [RefSeq, PubMed]; Reports the identification by tandem mass spec of a novel protein, proteolipid with a mass of 5,283 Da, (PL-5283)., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:0005739 mitochondrion;GO:0005741 mitochondrial outer membrane;GO:0005743 mitochondrial inner membrane;GO:0005758 mitochondrial intermembrane space;GO:0098803 respiratory chain complex", "go_biological_process": "GO:0045087 innate immune response;GO:0032731 positive regulation of interleukin-1 beta production;GO:0033617 mitochondrial respiratory chain complex IV assembly;GO:0034551 mitochondrial respiratory chain complex III assembly;GO:1900227 positive regulation of NLRP3 inflammasome complex assembly", "synthesized_glycan_count": 0, "hit_score": 2.4, "record_id": "E0CX11-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94768-1", "uniprot_id": [ { "id": "ST17B_HUMAN", "url": "https://www.uniprot.org/uniprot/O94768", "type": "external" } ], "mass": 42344.0, "length": 372, "protein_name": "Serine/threonine-protein kinase 17B", "gene_name": "STK17B", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 17B", "refseq_ac": [ { "id": "NP_004217", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004217", "type": "external" } ], "gene_names_uniprotkb": "STK17B; DRAK2", "gene_names_refseq": "DRAK2; STK17B", "protein_names_uniprotkb": "Serine/threonine-protein kinase 17B; 2.7.11.1; DAP kinase-related apoptosis-inducing protein kinase 2", "protein_names_refseq": "DAP kinase-related apoptosis-inducing protein kinase 2; death-associated protein kinase-related 2; serine/threonine-protein kinase 17B", "tax_id": 9606, "disease": "", "pathway": " (hsa:9262)", "pathway_count": 1, "publication_count": 71, "publication_id_list": "11237011;12966074;17182616;17344846;18084041;19542440;19638987;21872626;22564745;24086368;24714562;24715725;25576301;25892735;26154972;26992070;27846572;27862975;28904123;29437277;29445189;29493099;29557506;30315122;30429286;30484775;30833945;31154438;31217245;31530632;31844290;31848261;31937595;31998317;32157095;32161166;32357974;32387766;32488085;32502341;32897882;32938616;32983136;33081245;33091337;33141586;33392160;33537174;33592498;33691108;33717175;33936100;33968037;34171305;34185709;34509645;34561969;34614409;34932366;35051231;35318648;35561310;35580925;36010968;36215666;36241641;36284347;37938771;38324636;40914422;9786912", "class_list": "", "function": "A significant interaction between variants in STK17B and PAX8, in papillary thyroid cancer susceptibility, is reported. Erratum:[PLoS One. 2013;8(10). doi:10.1371/annotation/cd94c3eb-70f2-4dfa-85be-b3fc41e495c3] Publication Status: Online-Only, [RefSeq, PubMed]; DAP Kinase-Related Apoptosis-Inducing Protein Kinase 2 (DRAK2) Is a Key Regulator and Molecular Marker in Chronic Lymphocytic Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; DRAK2 aggravates nonalcoholic fatty liver disease progression through SRSF6-associated RNA alternative splicing., [RefSeq, PubMed]; DRAK2 kinase activity is regulated in a calcium-dependent manner and that Ser(12) phosphorylation is necessary for optimal suppression of T cell activation by this kinase, [RefSeq, PubMed]; DRAK2 suppresses autophagy by phosphorylating ULK1 at Ser[56] to diminish pancreatic beta cell function upon overnutrition., [RefSeq, PubMed]; Phosphorylates myosin light chains (By similarity). Acts as a positive regulator of apoptosis., [UniProtKB, PubMed]; Regulation of the apoptosis-inducing kinase DRAK2 by cyclooxygenase-2 in colorectal cancer., [RefSeq, PubMed]; STK17B promotes carcinogenesis and metastasis via AKT/GSK-3beta/Snail signaling in hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Strong suppression of T cell receptor signals during thymic selection caused by ectopic DRAK2 expression in a DRAK2 transgenic mouse model of autoimmune encephalomyelitis alters the responsiveness of peripheral T 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": 4, "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": [ { "id": "2.7.11.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.1", "type": "external" }, { "id": "2.7.11.21", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.21", "type": "external" }, { "id": "2.7.12.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.2", "type": "external" }, { "id": "2.7.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.-", "type": "external" }, { "id": "2.7.11.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.4", "type": "external" }, { "id": "2.7.11.10", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.10", "type": "external" }, { "id": "2.7.11.24", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.24", "type": "external" }, { "id": "2.7.11.25", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.25", "type": "external" }, { "id": "2.7.10.2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.10.2", "type": "external" }, { "id": "2.7.12.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.12.1", "type": "external" }, { "id": "2.7.11.39", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.39", "type": "external" }, { "id": "3.1.26.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.26.-", "type": "external" }, { "id": "2.7.11.22", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.22", "type": "external" }, { "id": "2.7.11.13", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.13", "type": "external" }, { "id": "2.7.2.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.2.3", "type": "external" }, { "id": "2.7.11.23", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.23", "type": "external" }, { "id": "2.7.1.40", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.40", "type": "external" }, { "id": "3.1.11.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.11.-", "type": "external" }, { "id": "2.7.4.6", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.6", "type": "external" }, { "id": "2.7.13.3", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.13.3", "type": "external" }, { "id": "2.7.4.18", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.4.18", "type": "external" }, { "id": "3.1.24.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.1.24.-", "type": "external" }, { "id": "2.7.11.11", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.11", "type": "external" }, { "id": "2.3.1.48", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.48", "type": "external" }, { "id": "2.3.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.1.-", "type": "external" }, { "id": "2.7.1.153", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.153", "type": "external" }, { "id": "2.7.1.137", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.137", "type": "external" }, { "id": "2.7.11.26", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.26", "type": "external" }, { "id": "2.7.1.154", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.154", "type": "external" }, { "id": "2.7.11.31", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.31", "type": "external" }, { "id": "2.3.2.27", "url": "https://www.rhea-db.org/rhea/?query=ec:2.3.2.27", "type": "external" }, { "id": "2.7.11.12", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.12", "type": "external" }, { "id": "2.7.11.17", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.17", "type": "external" }, { "id": "2.7.11.8", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.8", "type": "external" }, { "id": "2.7.11.19", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.19", "type": "external" }, { "id": "4.1.1.32", "url": "https://www.rhea-db.org/rhea/?query=ec:4.1.1.32", "type": "external" }, { "id": "3.6.5.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.5.-", "type": "external" }, { "id": "2.7.11.38", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.38", "type": "external" }, { "id": "2.7.11.34", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.11.34", "type": "external" }, { "id": "3.6.-.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.-.-", "type": "external" }, { "id": "3.6.1.-", "url": "https://www.rhea-db.org/rhea/?query=ec:3.6.1.-", "type": "external" }, { "id": "2.7.1.150", "url": "https://www.rhea-db.org/rhea/?query=ec:2.7.1.150", "type": "external" } ], "go_molecular_function": "GO:0004672 protein kinase activity;GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding;GO:0106310 protein serine kinase activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton;GO:0005793 endoplasmic reticulum-Golgi intermediate compartment", "go_biological_process": "GO:0006468 protein phosphorylation;GO:0035556 intracellular signal transduction;GO:0043065 positive regulation of apoptotic process;GO:0006915 apoptotic process;GO:0046777 protein autophosphorylation", "synthesized_glycan_count": 0, "hit_score": 7.4, "record_id": "O94768-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UH65-1", "uniprot_id": [ { "id": "SWP70_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UH65", "type": "external" } ], "mass": 68998.0, "length": 585, "protein_name": "Switch-associated protein 70", "gene_name": "SWAP70", "organism": "Human", "refseq_name": "switch-associated protein 70 isoform 2", "refseq_ac": [ { "id": "NP_001284643", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001284643", "type": "external" } ], "gene_names_uniprotkb": "SWAP70; HSPC321; KIAA0640", "gene_names_refseq": "HSPC321; SWAP-70; SWAP70", "protein_names_uniprotkb": "Switch-associated protein 70; SWAP-70", "protein_names_refseq": "SWAP switching B-cell complex 70kDa subunit; SWAP switching B-cell complex subunit 70; switch-associated protein 70 isoform 2; switch-associated protein 70", "tax_id": 9606, "disease": "", "pathway": " (hsa:23075); (R-HSA-9013149); (R-HSA-9013404); (R-HSA-9013423)", "pathway_count": 4, "publication_count": 308, "publication_id_list": "10232922;10464238;10490598;10508610;10523665;10523675;10526156;10559246;10579713;10618392;10681448;10699171;10699464;10847683;10873802;10958683;11007481;11058585;11085924;11145705;11149925;11237011;11373293;11396949;11431473;11432776;11466336;11584276;11672528;11704860;11707441;11726218;11756552;11773441;11803464;11804587;11804589;11804590;11884391;11912491;11919634;11956649;11961559;12071859;12093360;12096337;12195014;12221096;12351724;12432077;12531887;12546821;12547822;12650940;12665586;12857875;12877655;12923183;12925760;14512443;14514689;1464587;14675773;14718541;15023524;15033976;15064355;15107133;15133129;15147912;15169870;15302923;15339924;15342493;15485661;15507211;15542837;15579468;15601624;15611138;15728722;15814684;15850391;15858067;15897194;16002401;16081809;16112081;16116428;16184169;16243035;16243036;16418221;16473593;16492808;16507994;16519628;16547421;1660188;16636067;16702231;16762923;16777452;16777849;16862148;16896804;16914516;16968698;17060455;17077126;17145773;17158234;17196961;17214551;17244649;17269730;17583407;17599059;17698854;17702745;17765681;17804252;17976533;18006505;18045877;18056264;18191593;18218625;18249095;18347018;18396277;18426980;18446792;18653540;18662984;18697831;18838382;19269969;19494238;19534724;19605563;19673492;19713215;19934221;20068231;20400958;20460433;20679435;20810653;21123826;21148482;21151158;21378159;21542010;21565175;21613211;21730051;21865595;21989057;22004470;22096251;22298643;22407364;22475431;22608513;22645359;22734669;22970203;23209303;23255595;23288169;23434736;23481700;23572525;23707487;23718289;23757206;23870057;23940355;24086303;24259668;24335996;24352656;24623723;24715725;24859002;24933155;24960694;25024229;25211221;25428919;25576301;25704760;25721503;25795300;25862245;26016997;26024233;26129894;26375851;26529257;26628301;26887924;26992070;27117132;27145964;27216196;27481945;27555588;27566826;27600516;27713499;27806292;27846572;28063628;28114311;28196833;28218747;28228285;28356423;28832583;28834231;28904123;29089502;29242379;29358323;29382922;29393594;29437277;29508533;29557506;29632046;29632711;29786170;29789417;30315122;30410026;30636036;30853411;31389670;31844290;31871319;31932501;32157095;32203420;32350084;32357974;32387766;32502341;32897882;32938616;32983136;33298915;33592498;33633747;33717175;33912179;33936100;33968037;34019948;34405274;34932366;35051231;35561310;36215666;36974751;37217939;37938771;38760173;7479768;7512369;7559638;7673236;7721814;7753201;7835339;8021274;8107774;8537347;8543060;8643598;8645157;8662891;8756646;8769096;8798539;8805223;8810315;8816443;8939998;8990121;8994827;9013646;9099726;9113980;9252344;9305890;9438849;9490638;9497316;9582072;9659915;9670022;9705280;9792683;9822598;9843499;9988689", "class_list": "", "function": "Mechanism of control of F-actin cortex architecture by SWAP-70. Publication Status: Online-Only, [RefSeq, PubMed]; Overexpression of SWAP-70 altered the actin organization and lamellipodial morphology, [RefSeq, PubMed]; Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which, independently of RAS, transduces signals from tyrosine kinase receptors to RAC. It also mediates signaling of membrane ruffling. Regulates the actin cytoskeleton as an effector or adapter protein in response to agonist stimulated phosphatidylinositol (3,4)-bisphosphate production and cell protrusion (By similarity)., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB, UniProtKB]; Protein that functions as the only B cell-specific component of an isotype switch recombination, [RefSeq, PubMed]; Results show that SWAP70 regulates lamellipodia. SWAP70 undergoes conformational regulation at the leading edge of migratory glioma cell line., [RefSeq, PubMed]; SWAP70 Overexpression Protects Against Pathological Cardiac Hypertrophy in a TAK1-Dependent Manner., [RefSeq, PubMed]; Surface expression of SWAP-70 on HIV-1 infected cells as well as PBMCs; SWAP-70 may serve as a marker for T cell differentiation as well as for HIV-1 infection, [RefSeq, PubMed]; The F-actin bundler SWAP-70 promotes tumor metastasis. Publication Status: Online-Only, [RefSeq, PubMed]; The binding activity of SWAP-70 to non-muscle F-actin is required for membrane ruffling., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 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": "D3DQV1;O75135;Q7LCY6;Q9P061;Q9P0Z8", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0005524 ATP binding;GO:0005509 calcium ion binding;GO:0045296 cadherin binding;GO:0005085 guanyl-nucleotide exchange factor activity", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0005886 plasma membrane;GO:0015629 actin cytoskeleton", "go_biological_process": "GO:0030835 negative regulation of actin filament depolymerization;GO:0032233 positive regulation of actin filament bundle assembly;GO:0033633 negative regulation of cell-cell adhesion mediated by integrin;GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0051056 regulation of small GTPase mediated signal transduction", "synthesized_glycan_count": 0, "hit_score": 31.1, "record_id": "Q9UH65-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "H3BQB6-1", "uniprot_id": [ { "id": "STMD1_HUMAN", "url": "https://www.uniprot.org/uniprot/H3BQB6", "type": "external" } ], "mass": 30984.0, "length": 276, "protein_name": "Stathmin domain-containing protein 1", "gene_name": "STMND1", "organism": "Human", "refseq_name": "stathmin domain-containing protein 1", "refseq_ac": [ { "id": "NP_001177695", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177695", "type": "external" } ], "gene_names_uniprotkb": "STMND1", "gene_names_refseq": "STMND1", "protein_names_uniprotkb": "Stathmin domain-containing protein 1", "protein_names_refseq": "stathmin domain-containing protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:401236)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;38630521", "class_list": "", "function": "STMND1 is a phylogenetically ancient stathmin which localizes to motile cilia and exhibits nuclear translocation that is inhibited when soluble tubulin concentration increases., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:0015631 tubulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0043005 neuron projection", "go_biological_process": "GO:0031110 regulation of microtubule polymerization or depolymerization;GO:0031175 neuron projection development;GO:0007019 microtubule depolymerization", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "H3BQB6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O60279-1", "uniprot_id": [ { "id": "SUSD5_HUMAN", "url": "https://www.uniprot.org/uniprot/O60279", "type": "external" } ], "mass": 68021.0, "length": 629, "protein_name": "Sushi domain-containing protein 5", "gene_name": "SUSD5", "organism": "Human", "refseq_name": "sushi domain-containing protein 5 precursor", "refseq_ac": [ { "id": "NP_056366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056366", "type": "external" } ], "gene_names_uniprotkb": "SUSD5; KIAA0527", "gene_names_refseq": "SUSD5", "protein_names_uniprotkb": "Sushi domain-containing protein 5", "protein_names_refseq": "sushi domain-containing protein 5 precursor; sushi domain-containing protein 5", "tax_id": 9606, "disease": "", "pathway": " (hsa:26032)", "pathway_count": 1, "publication_count": 14, "publication_id_list": "10.1038/emboj.2013.79;10.1101/2023.09.13.557529;11237011;17081983;18702456;20187088;23090970;23584533;24190977;30459171;32938616;35051231;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": 1, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 3, "reported_o_glycosites_with_glycan": 14, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 3, "total_reported_o_glycosites": 14, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 3, "total_o_glycosites": 14, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 4, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 35, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 7, "disease_count": 0, "glyco_site_count": 17, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0005540 hyaluronic acid binding", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:0007219 Notch signaling pathway", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "O60279-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "M5A8F1-1", "uniprot_id": [ { "id": "SUPYN_HUMAN", "url": "https://www.uniprot.org/uniprot/M5A8F1", "type": "external" } ], "mass": 18128.0, "length": 160, "protein_name": "Suppressyn", "gene_name": "ERVH48-1", "organism": "Human", "refseq_name": "suppressyn precursor", "refseq_ac": [ { "id": "NP_001295420", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295420", "type": "external" } ], "gene_names_uniprotkb": "ERVH48-1; C21orf105; HERV-Fb1; NDUFV3-AS1", "gene_names_refseq": "C21orf105; ERVH48-1; HERV-Fb1; NDUFV3-AS1; SUPYN", "protein_names_uniprotkb": "Suppressyn; Endogenous retrovirus group 48 member 1; NDUFV3 antisense RNA 1; endogenous retrovirus group Fb member 1", "protein_names_refseq": "NDUFV3 antisense RNA 1 (non-protein coding); endogenous retrovirus group 48, member 1; endogenous retrovirus group Fb member 1; suppressyn precursor; suppressyn; suppresyn", "tax_id": 9606, "disease": "", "pathway": " (hsa:90625)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "23492904;35051231;38002309;38671230", "class_list": "", "function": "Controlling Trophoblast Cell Fusion in the Human Placenta-Transcriptional Regulation of Suppressyn, an Endogenous Inhibitor of Syncytin-1. Publication Status: Online-Only, [RefSeq, PubMed]; Many different endogenous retrovirus families are expressed in normal placental tissue at high levels, suggesting that endogenous retroviruses are functionally important in reproduction. This gene is part of an endogenous retrovirus provirus that has placenta specific expression. The protein encoded has the characteristics of a retroviral envelope protein but is truncated and lacks the transmembrane domain. The protein inhibits cell fusion by competing with syncytin-1 for binding to a cell receptor. [provided by RefSeq, May 2015]., [RefSeq]; May play a role in trophoblasts syncytialization, the spontaneous fusion of their plasma membranes, an essential process in placental development. May negatively regulate cell-cell fusion by interacting with SLC1A5, the probable receptor on the cell surface of the fusogenic syncytin-1/ERVW-1., [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": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005615 extracellular space", "go_biological_process": "GO:0006949 syncytium formation", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "M5A8F1-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O94901-8", "uniprot_id": [ { "id": "SUN1_HUMAN", "url": "https://www.uniprot.org/uniprot/O94901", "type": "external" } ], "mass": 87110.0, "length": 785, "protein_name": "SUN domain-containing protein 1", "gene_name": "SUN1", "organism": "Human", "refseq_name": "SUN domain-containing protein 1 isoform a", "refseq_ac": [ { "id": "NP_001124437", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001124437", "type": "external" } ], "gene_names_uniprotkb": "SUN1; KIAA0810; UNC84A", "gene_names_refseq": "SUN1; UNC84A", "protein_names_uniprotkb": "SUN domain-containing protein 1; Protein unc-84 homolog A; Sad1/unc-84 protein-like 1", "protein_names_refseq": "SUN domain-containing protein 1 isoform a; SUN domain-containing protein 1; Sad1 unc-84 domain protein 1; protein unc-84 homolog A; sad1/unc-84 protein-like 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:23353); (R-HSA-1221632)", "pathway_count": 2, "publication_count": 45, "publication_id_list": "10.1038/emboj.2013.79;10375507;11593002;11673449;12036294;12958361;15125634;15235794;16079285;16445915;17081983;17132086;17631499;18039933;18396275;18845190;19146767;19933576;20068231;20634189;23186163;23481700;23584533;24190977;24275569;24375709;25418920;25482198;25576301;27956467;28716842;28831067;31154438;31530632;31848261;31998317;32161166;35494241;36284347;36933034;37639327;39383106;8794855;9008167;9285814", "class_list": "", "function": "As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton (PubMed:18039933, PubMed:18396275). The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning (By similarity). Required for interkinetic nuclear migration (INM) and essential for nucleokinesis and centrosome-nucleus coupling during radial neuronal migration in the cerebral cortex and during glial migration (By similarity). Involved in telomere attachment to nuclear envelope in the prophase of meiosis implicating a SUN1/2:KASH5 LINC complex in which SUN1 and SUN2 seem to act at least partial redundantly (By similarity). Required for gametogenesis and involved in selective gene expression of coding and non-coding RNAs needed for gametogenesis (By similarity). Helps to define the distribution of nuclear pore complexes (NPCs) (By similarity). Required for efficient localization of SYNE4 in the nuclear envelope (By similarity). May be involved in nuclear remodeling during sperm head formation in spermatogenesis (By similarity). May play a role in DNA repair by suppressing non-homologous end joining repair to facilitate the repair of DNA cross-links (PubMed:24375709)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB]; Describes cloning and function of C. elegans unc-84 and cloning of human orthologs., [RefSeq, PubMed]; Isolation of a cDNA encoding a mouse homolog of the human SUN1 (UNC84A) gene., [RefSeq, PubMed]; KIAA0810 is a novel 100-kDa transmembrane protein with similarity to Caenorhabditis elegans Unc-84A and resides in the inner nuclear membrane. It is likely to interact with the nuclear lamina., [RefSeq, PubMed]; Loss of SUN1 function in spermatocytes disrupts the attachment of telomeres to the nuclear envelope and contributes to non-obstructive azoospermia in humans., [RefSeq, PubMed]; SUN1 facilitates CHMP7 nuclear influx and injury cascades in sporadic amyotrophic lateral sclerosis., [RefSeq, PubMed]; SUN1 inhibits osteogenesis and promotes adipogenesis of human adipose-derived stem cells by regulating alpha-tubulin and CD36 expression., [RefSeq, PubMed]; The Sun1 itself does not require functional A-type lamins for its localisation at the inner nuclear membrane in mammalian cells., [RefSeq, PubMed]; This gene is a member of the unc-84 homolog family and encodes a nuclear envelope protein with an Unc84 (SUN) domain. The protein is involved in nuclear anchorage and migration. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 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": 2, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 2, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 2, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 8, "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": "A5PL20;B3KMV7;B4DZF7;B7WNY4;B7WP53;E9PDU4;E9PF23;F8WD13;Q96CZ7;Q9HA14;Q9UH98", "ec_number_list": [], "go_molecular_function": "GO:0042802 identical protein binding;GO:0043495 protein-membrane adaptor activity;GO:0005521 lamin binding;GO:0140444 cytoskeleton-nuclear membrane anchor activity", "go_cellular_component": "GO:0005635 nuclear envelope;GO:0005737 cytoplasm;GO:0031965 nuclear membrane;GO:0005637 nuclear inner membrane;GO:0000781 chromosome, telomeric region", "go_biological_process": "GO:0021817 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration;GO:0090292 nuclear matrix anchoring at nuclear membrane;GO:0007283 spermatogenesis;GO:0009612 response to mechanical stimulus;GO:0001503 ossification", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "O94901-8", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1100000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O95772-1", "uniprot_id": [ { "id": "STR3N_HUMAN", "url": "https://www.uniprot.org/uniprot/O95772", "type": "external" } ], "mass": 26655.0, "length": 234, "protein_name": "STARD3 N-terminal-like protein", "gene_name": "STARD3NL", "organism": "Human", "refseq_name": "STARD3 N-terminal-like protein isoform 1", "refseq_ac": [ { "id": "NP_114405", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114405", "type": "external" } ], "gene_names_uniprotkb": "STARD3NL; MENTHO; PRO1864", "gene_names_refseq": "MENTHO; STARD3NL", "protein_names_uniprotkb": "STARD3 N-terminal-like protein; MLN64 N-terminal domain homolog", "protein_names_refseq": "MLN64 N-terminal domain homolog; STARD3 N-terminal-like protein isoform 1; STARD3 N-terminal-like protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:83930); (R-HSA-196108)", "pathway_count": 2, "publication_count": 38, "publication_id_list": "11237011;12393907;12975309;15718238;16709157;17081983;18088087;18452278;18578522;19651622;19664994;19690332;20058876;20068231;23186163;24105263;24275569;25542846;25818881;26992070;28832583;28834231;29242379;2981667;29858488;3001071;3024157;30429286;31154438;31844290;31848261;34357683;34433824;35098646;8307574;8645003;9578606;9915832", "class_list": "", "function": "In this review, MENTHO defines discrete cholesterol-containing subdomains within the membrane of late endosomes where they may function in cholesterol transport. Review article, [RefSeq, PubMed]; Overexpression does not rescue the Niemann-Pick type C lipid storage phenotype; overexpression alters severely the endocytic compartment by leading at steady state to the accumulation of enlarged endosomes, [RefSeq, PubMed]; STARD3NL inhibits the osteogenic differentiation by inactivating the Wnt/beta-catenin pathway via binding to Annexin A2 in osteoporosis., [RefSeq, PubMed]; Tethering protein that creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB (PubMed:24105263)., [UniProtKB, PubMed]; The MENTAL (MLN64 amino-terminal shared with MENTHO) domain might serve to maintain cholesterol at the membrane of late endosomes prior to its shuttle to cytoplasmic acceptor(s)., [RefSeq, PubMed]; This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [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": 11, "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": "A4D1X0", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0015485 cholesterol binding", "go_cellular_component": "GO:0044232 organelle membrane contact site;GO:0005768 endosome;GO:0005829 cytosol;GO:0016020 membrane;GO:0005765 lysosomal membrane", "go_biological_process": "GO:0030301 cholesterol transport;GO:0099044 vesicle tethering to endoplasmic reticulum", "synthesized_glycan_count": 0, "hit_score": 3.9, "record_id": "O95772-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P09132-1", "uniprot_id": [ { "id": "SRP19_HUMAN", "url": "https://www.uniprot.org/uniprot/P09132", "type": "external" } ], "mass": 16156.0, "length": 144, "protein_name": "Signal recognition particle 19 kDa protein", "gene_name": "SRP19", "organism": "Human", "refseq_name": "signal recognition particle 19 kDa protein isoform 2", "refseq_ac": [ { "id": "NP_001191122", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001191122", "type": "external" } ], "gene_names_uniprotkb": "SRP19", "gene_names_refseq": "SRP19", "protein_names_uniprotkb": "Signal recognition particle 19 kDa protein; SRP19", "protein_names_refseq": "signal recognition particle 19 kDa protein isoform 2; signal recognition particle 19 kDa protein; signal recognition particle 19kDa; signal recognition particle 19kD", "tax_id": 9606, "disease": "", "pathway": " (hsa:6728); (R-HSA-1799339)", "pathway_count": 2, "publication_count": 47, "publication_id_list": "10618370;11237011;11641499;11682607;11964406;12244299;12853463;16469117;18166647;18455985;20179341;20444697;22645359;2460823;24700861;24714562;26992070;27899666;28510447;28514659;28832583;28834231;29242379;29493099;29557506;31154438;31217245;31530632;31844290;31998317;32157095;32350084;32488085;32502341;32938616;32983136;33592498;33691108;33717175;33936100;33968037;34020957;34171305;34229054;35580925;36223592;9631292", "class_list": "", "function": "Component of the signal recognition particle (SRP) complex, a ribonucleoprotein complex that mediates the cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER) (By similarity). Binds directly to 7SL RNA (By similarity). Mediates binding of SRP54 to the SRP complex (By similarity)., [UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes., [RefSeq, PubMed]; The crystal structures of the SRP68 protein-binding domain (PBD) in complex with SRP72-PBD and of the SRP72-RBD bound to the SRP S domain (SRP RNA, SRP19 and SRP68) detailing all interactions of SRP72 within SRP have been presented., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": "B2R4E9;D6RCQ5;Q05D77;Q96FG6", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0008312 7S RNA binding", "go_cellular_component": "GO:0005786 signal recognition particle, endoplasmic reticulum targeting;GO:0005654 nucleoplasm;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0048500 signal recognition particle", "go_biological_process": "GO:0006613 cotranslational protein targeting to membrane;GO:0006617 SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition;GO:0006614 SRP-dependent cotranslational protein targeting to membrane", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "P09132-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P0CL84-1", "uniprot_id": [ { "id": "ST3L2_HUMAN", "url": "https://www.uniprot.org/uniprot/P0CL84", "type": "external" } ], "mass": 15630.0, "length": 134, "protein_name": "Putative STAG3-like protein 2", "gene_name": "STAG3L2", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "STAG3L2", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative STAG3-like protein 2; Stromal antigen 3-like protein 2", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 4, "publication_id_list": "28218747;28855257;29393594;29632046", "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": "A6NMT8;A8K0A1;Q32NE4;Q6NXR2;Q7L5M5;Q7Z5K6", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "P0CL84-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P22528-1", "uniprot_id": [ { "id": "SPR1B_HUMAN", "url": "https://www.uniprot.org/uniprot/P22528", "type": "external" } ], "mass": 9888.0, "length": 89, "protein_name": "Cornifin-B", "gene_name": "SPRR1B", "organism": "Human", "refseq_name": "cornifin-B", "refseq_ac": [ { "id": "NP_003116", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003116", "type": "external" } ], "gene_names_uniprotkb": "SPRR1B", "gene_names_refseq": "CORNIFIN; GADD33; SPR-IB; SPRR1B; SPRR1", "protein_names_uniprotkb": "Cornifin-B; 14.9 kDa pancornulin; SPR-IB; Small proline-rich protein IB", "protein_names_refseq": "14.9 kDa pancornulin; cornifin-B; small proline-rich protein IB", "tax_id": 9606, "disease": "", "pathway": " (hsa:6699); (R-HSA-6809371)", "pathway_count": 2, "publication_count": 48, "publication_id_list": "10066784;10196183;10231017;10411887;10588656;10771479;11350120;11380615;11590230;12902340;15033990;15337775;15797384;15803139;16061697;16639001;17515931;17562024;17596512;18843291;19190773;19194479;20179351;20657595;20667819;20940292;21439340;21654840;21997417;23629652;25926655;26390218;27304082;28859701;3133554;33501784;33620575;34808501;35051231;35318648;38665916;7543090;7829876;8388378;8824274;8999895;9395522;9565599", "class_list": "", "function": "Cross-linked envelope protein of keratinocytes. It is a keratinocyte protein that first appears in the cell cytosol, but ultimately becomes cross-linked to membrane proteins by transglutaminase. All that results in the formation of an insoluble envelope beneath the plasma membrane. Can function as both amine donor and acceptor in transglutaminase-mediated cross-linkage., [UniProtKB]; DGUOK-AS1 promotes cervical squamous cell carcinoma progression by suppressing miR-499a-5p that targets SPRR1B in vitro., [RefSeq, PubMed]; Expression of SPRR1 and of SPRR2A is increased in mucosal samples from patients with chronic rhinosinusitis and appeared as a downstream result of TNF alpha modulation, which possibly resulted in epithelial barrier dysfunction., [RefSeq, PubMed]; Identification of oral squamous cell carcinoma markers MUC2 and SPRR1B downstream of TANGO., [RefSeq, PubMed]; Identification of small proline-rich protein 1B (SPRR1B) as a prognostically predictive biomarker for lung adenocarcinoma by integrative bioinformatic analysis., [RefSeq, PubMed]; Levels SPRR1B proteins were significantly higher in AD skin compared with the levels of these proteins in the skin of healthy subjects., [RefSeq, PubMed]; The protein encoded by this gene is an envelope protein of keratinocytes. The encoded protein is crosslinked to membrane proteins by transglutaminase, forming an insoluble layer under the plasma membrane. This protein is proline-rich and contains several tandem amino acid repeats. [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": 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": "B2R5H7;P22529;P22530;Q5T524", "ec_number_list": [], "go_molecular_function": "GO:0005198 structural molecule activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol;GO:0001533 cornified envelope", "go_biological_process": "GO:0031424 keratinization;GO:0008544 epidermis development;GO:0030216 keratinocyte differentiation;GO:0018149 peptide cross-linking", "synthesized_glycan_count": 0, "hit_score": 5.1, "record_id": "P22528-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P35346-1", "uniprot_id": [ { "id": "SSR5_HUMAN", "url": "https://www.uniprot.org/uniprot/P35346", "type": "external" } ], "mass": 39202.0, "length": 364, "protein_name": "Somatostatin receptor type 5", "gene_name": "SSTR5", "organism": "Human", "refseq_name": "somatostatin receptor type 5", "refseq_ac": [ { "id": "NP_001044", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001044", "type": "external" } ], "gene_names_uniprotkb": "SSTR5", "gene_names_refseq": "SS-5-R; SST5; SSTR5", "protein_names_uniprotkb": "Somatostatin receptor type 5; SS-5-R; SS5-R; SS5R; SST5", "protein_names_refseq": "somatostatin receptor subtype 5; somatostatin receptor type 5", "tax_id": 9606, "disease": "Parkinson's disease (Disease Ontology:DOID:14330); bipolar disorder (Disease Ontology:DOID:3312)", "pathway": " (hsa:6755); (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;11237011;11322507;11385580;11457843;11562423;11683476;11773063;12072395;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;18653781;20207824;21249361;21692047;21820437;22136833;23446738;23690594;24715725;24906252;2534964;2649896;2748346;27496565;2834384;3202875;32488085;3366244;34224803;34601790;35163067;3525564;3856870;6274691;6281660;6373251;6589611;7057924;7524088;7590751;7592910;7592911;7624359;7797512;7905839;7908405;7937899;8015379;8035319;8062389;8063797;8078491;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": "Epigenetic and post-transcriptional regulation of somatostatin receptor subtype 5 (SST5 ) in pituitary and pancreatic neuroendocrine tumors., [RefSeq, PubMed]; Receptor for somatostatin 28 and to a lesser extent for somatostatin-14. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase. Increases cell growth inhibition activity of SSTR2 following heterodimerization., [UniProtKB, PubMed, PubMed, PubMed, PubMed]; Somatostatin Receptor Splicing Variant sst5TMD4 Overexpression in Glioblastoma Is Associated with Poor Survival, Increased Aggressiveness Features, and Somatostatin Analogs Resistance. Publication Status: Online-Only, [RefSeq, PubMed]; Somatostatin and its related peptide cortistatin exert multiple biological actions on normal and tumoral tissue targets by interacting with somatostatin receptors (SSTRs). The protein encoded by this gene is one of the SSTRs, which is a multi-pass membrane protein and belongs to the G-protein coupled receptor 1 family. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase, and different regions of this receptor molecule are required for the activation of different signaling pathways. A mutation in this gene results in somatostatin analog resistance. Alternatively spliced transcript variants have been identified in this gene.[provided by RefSeq, Feb 2010]., [RefSeq]; Somatostatin receptor 5 is critical for protecting intestinal barrier function in vivo and in vitro., [RefSeq, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 2, "mined_n_glycosites": 2, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 0, "reported_glycation": 0, "reported_snv": 19, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 2, "glyco_site_count": 3, "binding_glycan_count": 0, "secondary_ac_list": "P34988;Q541E0;Q9UJI5", "ec_number_list": [], "go_molecular_function": "GO:0004994 somatostatin receptor activity;GO:0042923 neuropeptide binding", "go_cellular_component": "GO:0005886 plasma membrane;GO:0043005 neuron projection", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0007218 neuropeptide signaling pathway;GO:0008285 negative regulation of cell population proliferation;GO:0007187 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;GO:0050796 regulation of insulin secretion", "synthesized_glycan_count": 0, "hit_score": 12.3, "record_id": "P35346-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.1000100010001.111.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q0VAF6-1", "uniprot_id": [ { "id": "SYCN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q0VAF6", "type": "external" } ], "mass": 14405.0, "length": 134, "protein_name": "Syncollin", "gene_name": "SYCN", "organism": "Human", "refseq_name": "syncollin precursor", "refseq_ac": [ { "id": "NP_001073937", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073937", "type": "external" } ], "gene_names_uniprotkb": "SYCN; INSSA1; SYL", "gene_names_refseq": "INSSA1; SYCN; SYL", "protein_names_uniprotkb": "Syncollin; Insulin synthesis-associated protein 1", "protein_names_refseq": "insulin synthesis associated 1; insulin synthesis-associated protein 1; syncollin precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:342898); (R-HSA-9925561)", "pathway_count": 2, "publication_count": 2, "publication_id_list": "24007603;29557506", "class_list": "", "function": "Additional serum biomarkers, particularly SYCN and REG1B, when combined with CA19.9, show promise as improved diagnostic indicators of pancreatic cancer, which therefore warrants further validation. Publication Status: Online-Only, [RefSeq, PubMed]; Functions in exocytosis in pancreatic acinar cells regulating the fusion of zymogen granules with each other. May have a pore-forming activity on membranes and regulate exocytosis in other exocrine tissues (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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:0042589 zymogen granule membrane", "go_biological_process": "GO:0006887 exocytosis", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q0VAF6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2M3V2-1", "uniprot_id": [ { "id": "SWAHA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2M3V2", "type": "external" } ], "mass": 57409.0, "length": 549, "protein_name": "Ankyrin repeat domain-containing protein SOWAHA", "gene_name": "SOWAHA", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein SOWAHA precursor", "refseq_ac": [ { "id": "NP_787069", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_787069", "type": "external" } ], "gene_names_uniprotkb": "SOWAHA; ANKRD43", "gene_names_refseq": "ANKRD43; SOWAHA", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein SOWAHA; Ankyrin repeat domain-containing protein 43; Protein sosondowah homolog A", "protein_names_refseq": "ankyrin repeat domain-containing protein 43; ankyrin repeat domain-containing protein SOWAHA precursor; ankyrin repeat domain-containing protein SOWAHA; protein sosondowah homolog A", "tax_id": 9606, "disease": "", "pathway": " (hsa:134548)", "pathway_count": 1, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 1, "reported_mutagensis": 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": "Q8NAE7", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q2M3V2-1", "record_type": "protein", "filter_code": "0000000.1000001.100000.000000000001000000.0000000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q53LP3-1", "uniprot_id": [ { "id": "SWAHC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q53LP3", "type": "external" } ], "mass": 55672.0, "length": 525, "protein_name": "Ankyrin repeat domain-containing protein SOWAHC", "gene_name": "SOWAHC", "organism": "Human", "refseq_name": "ankyrin repeat domain-containing protein SOWAHC", "refseq_ac": [ { "id": "NP_075392", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_075392", "type": "external" } ], "gene_names_uniprotkb": "SOWAHC; ANKRD57; C2orf26", "gene_names_refseq": "ANKRD57; C2orf26; SOWAHC", "protein_names_uniprotkb": "Ankyrin repeat domain-containing protein SOWAHC; Ankyrin repeat domain-containing protein 57; Protein sosondowah homolog C", "protein_names_refseq": "ankyrin repeat domain 57; ankyrin repeat domain-containing protein 57; ankyrin repeat domain-containing protein SOWAHC; protein sosondowah homolog C", "tax_id": 9606, "disease": "", "pathway": " (hsa:65124); (R-HSA-8980692); (R-HSA-9013026); (R-HSA-9035034)", "pathway_count": 4, "publication_count": 183, "publication_id_list": "10037681;10232922;10490598;10523665;10523675;10526156;10579713;10619026;10699171;10873388;11058585;11085924;11207612;11373293;11396949;11431473;11432776;11606631;11672528;11680691;11689693;11704860;11804589;11804590;11884391;11912491;12071859;12093360;12195014;12221077;12221096;12473120;12531887;12650940;12857875;12877655;14512443;15023524;15064355;15107133;15302923;15342493;15485661;15601624;15611138;15850391;15866170;15944396;16112081;16116428;16184169;16217026;16467373;16519628;16630611;16776779;16777452;16777849;16862148;16896804;16914516;16917499;16964243;17077126;17198702;17562871;17702745;17765681;17804252;17932950;17942708;17976533;18158243;18218625;18669648;18691976;18767875;18802007;18829452;19494238;19605563;19635168;19651622;19664995;19673492;19713215;20030946;20068231;20101212;20233848;20400958;20591975;20628200;20660154;21119010;21148482;21351730;21373644;21454492;21565175;21699497;21865595;21936715;22096251;22298643;22305756;22673745;22911862;22992742;23096567;23186163;23200924;23255595;23434736;23572525;23870313;24086303;24128008;24259668;24275569;24335996;24352656;24933155;25211221;25668492;25673874;25704760;26371245;26529257;26887924;27145964;27216196;27278019;27481945;27600516;27986909;28112683;28196833;28584191;29146911;29786170;31105010;31217245;31844290;31871319;32016477;32203420;32938616;33968037;35051231;35318648;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": "Methylationdriven genes PMPCAP1, SOWAHC and ZNF454 as potential prognostic biomarkers in lung 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": 8, "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": "Q8NE15;Q9H6U1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 18.4, "record_id": "Q53LP3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5BIV9-1", "uniprot_id": [ { "id": "SPRN_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5BIV9", "type": "external" } ], "mass": 14522.0, "length": 151, "protein_name": "Shadow of prion protein", "gene_name": "SPRN", "organism": "Human", "refseq_name": "shadow of prion protein precursor", "refseq_ac": [ { "id": "NP_001012526", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001012526", "type": "external" } ], "gene_names_uniprotkb": "SPRN; SHO", "gene_names_refseq": "SHADOO; SHO; SPRN; bA108K14.1", "protein_names_uniprotkb": "Shadow of prion protein; Protein shadoo", "protein_names_refseq": "hypothetical protein BC004409; protein shadoo; shadow of prion protein homolog; shadow of prion protein precursor", "tax_id": 9606, "disease": "", "pathway": " (hsa:503542); (R-HSA-163125)", "pathway_count": 2, "publication_count": 14, "publication_id_list": "11072085;14527721;15342797;17199895;18778261;18805828;19913121;20628086;21257747;24390475;2443973;25645385;3422494;35051231", "class_list": "", "function": "A conserved physiological activity between PrP(C) and Sho to protect cells from stress-induced toxicity and suggests that Sho and PrP(C) might act on similar signaling pathways., [RefSeq, PubMed]; A novel solid phase technology for high- throughput synthesis of the SPRN gene is reported., [RefSeq, PubMed]; Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease GeneRIF: Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator), [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Prion-like protein that has PrP(C)-like neuroprotective activity. May act as a modulator for the biological actions of normal and abnormal PrP (By similarity)., [UniProtKB]; Shadoo is degraded in Scrapie-infected rodents and cultured cells mediated by proteasome degradation after modification by ubiquitination., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0003676 nucleic acid binding", "go_cellular_component": "GO:0005576 extracellular region;GO:0005634 nucleus;GO:0005730 nucleolus;GO:0005829 cytosol;GO:0005886 plasma membrane", "go_biological_process": "GO:0006606 protein import into nucleus", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q5BIV9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6IMI4-1", "uniprot_id": [ { "id": "ST6B1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6IMI4", "type": "external" } ], "mass": 34919.0, "length": 303, "protein_name": "Sulfotransferase 6B1", "gene_name": "SULT6B1", "organism": "Human", "refseq_name": "sulfotransferase 6B1 isoform 2", "refseq_ac": [ { "id": "NP_001027549", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001027549", "type": "external" } ], "gene_names_uniprotkb": "SULT6B1", "gene_names_refseq": "ST6B1; SULT6B1", "protein_names_uniprotkb": "Sulfotransferase 6B1; 2.8.2.n2; ST6B1; Thyroxine sulfotransferase", "protein_names_refseq": "sulfotransferase 6B1 isoform 2; sulfotransferase 6B1; sulfotransferase SULT6B1; sulfotransferase family, cytosolic, 6B, member 1; thyroxine sulfotransferase", "tax_id": 9606, "disease": "", "pathway": " (hsa:391365); (R-HSA-156584)", "pathway_count": 2, "publication_count": 36, "publication_id_list": "10199779;10224133;10503886;10512730;11077054;11154739;11237011;11457664;11739018;12039030;12145317;12372849;12889478;14622112;14672934;14676822;15358107;18606703;18672380;19505954;20832056;2268288;23479625;23481380;35051231;6139755;6770210;7678732;7779757;8185618;8697101;9034160;9463486;9501187;9566739;9852044", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of thyroxine. Involved in the metabolism of thyroxine (By similarity)., [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": 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": "B2RTS7", "ec_number_list": [ { "id": "2.8.2.-", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.-", "type": "external" }, { "id": "2.8.2.1", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.1", "type": "external" }, { "id": "2.8.2.4", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.4", "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": "2.8.2.n2", "url": "https://www.rhea-db.org/rhea/?query=ec:2.8.2.n2", "type": "external" } ], "go_molecular_function": "GO:0008146 sulfotransferase activity", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005829 cytosol", "go_biological_process": "GO:0051923 sulfation", "synthesized_glycan_count": 0, "hit_score": 3.7, "record_id": "Q6IMI4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q6ZWJ1-1", "uniprot_id": [ { "id": "STXB4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q6ZWJ1", "type": "external" } ], "mass": 61662.0, "length": 553, "protein_name": "Syntaxin-binding protein 4", "gene_name": "STXBP4", "organism": "Human", "refseq_name": "syntaxin-binding protein 4 isoform 1", "refseq_ac": [ { "id": "NP_848604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_848604", "type": "external" } ], "gene_names_uniprotkb": "STXBP4", "gene_names_refseq": "STXBP4; Synip", "protein_names_uniprotkb": "Syntaxin-binding protein 4; STX4-interacting protein; Synip; Syntaxin 4-interacting protein", "protein_names_refseq": "STX4-interacting protein; syntaxin 4 interacting protein; syntaxin-binding protein 4 isoform 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:252983)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "11237011;12855681;15753124;15913552;17336927;17525332;18669648;18691976;19413330;19451233;20068231;23186163;23301498;23481700;24705589;25576301;25880248;26992070;27893789;28218747;28228285;28422318;28514659;28832583;28834231;28904123;29437277;29557506;29735662;30315122;31217245;31782549;31844290;32157095;32350084;32357974;32387766;32488085;32938616;32993587;33298915;33592498;33912179;33968037;33981976;34087483;34171305;34357683;34509645;34932366;35051231;35580925;35772352;36010968;36215666;36241641;37938771", "class_list": "", "function": "Distinctive roles of syntaxin binding protein 4 and its action target, TP63, in lung squamous cell carcinoma: a theranostic study for the precision medicine. Publication Status: Online-Only, [RefSeq, PubMed]; Germline allelic expression of genes at 17q22 locus associates with risk of breast cancer., [RefSeq, PubMed]; High STXBP4 expression is associated with squamous cell carcinogenesis., [RefSeq, PubMed]; Low STXBP4 expression is associated with kidney cancer., [RefSeq, PubMed]; Plays a role in the translocation of transport vesicles from the cytoplasm to the plasma membrane. Inhibits the translocation of SLC2A4 from intracellular vesicles to the plasma membrane by STX4A binding and preventing the interaction between STX4A and VAMP2. Stimulation with insulin disrupts the interaction with STX4A, leading to increased levels of SLC2A4 at the plasma membrane. May also play a role in the regulation of insulin release by pancreatic beta cells after stimulation by glucose (By similarity)., [UniProtKB, UniProtKB, UniProtKB]; Stxbp4 and RACK1, two scaffold proteins, play central roles in balancing DeltaNp63 protein levels. While Stxbp4 functions to stabilize DeltaNp63 proteins, RACK1 targets DeltaNp63 for degradation., [RefSeq, PubMed]; Syntaxin 4 and Synip (syntaxin 4 interacting protein) regulate insulin secretion in the pancreatic beta HC-9 cells, [RefSeq, PubMed]; The deleterious SNPs localized in STXBP4 and ZNF404 genes were identified which might play a role in breast cancer development by dysregulating its 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": 10, "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": "Q8IVZ5", "ec_number_list": [], "go_molecular_function": "GO:0019905 syntaxin binding", "go_cellular_component": "GO:0070062 extracellular exosome;GO:0031410 cytoplasmic vesicle;GO:0045335 phagocytic vesicle;GO:0005737 cytoplasm", "go_biological_process": "GO:0006974 DNA damage response;GO:0050821 protein stabilization;GO:0008286 insulin receptor signaling pathway;GO:0061178 regulation of insulin secretion involved in cellular response to glucose stimulus;GO:0010838 positive regulation of keratinocyte proliferation", "synthesized_glycan_count": 0, "hit_score": 6.0, "record_id": "Q6ZWJ1-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7RTT5-1", "uniprot_id": [ { "id": "SSX7_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7RTT5", "type": "external" } ], "mass": 21591.0, "length": 188, "protein_name": "Protein SSX7", "gene_name": "SSX7", "organism": "Human", "refseq_name": "protein SSX7", "refseq_ac": [ { "id": "NP_775494", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775494", "type": "external" } ], "gene_names_uniprotkb": "SSX7", "gene_names_refseq": "SSX7", "protein_names_uniprotkb": "Protein SSX7", "protein_names_refseq": "protein SSX7; synovial sarcoma, X breakpoint 7", "tax_id": 9606, "disease": "", "pathway": " (hsa:280658)", "pathway_count": 1, "publication_count": 4, "publication_id_list": "12216073;29557506;30379171;34270940", "class_list": "", "function": "Could act as a modulator of transcription., [UniProtKB]; 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 spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation characteristically found in all synovial sarcomas. This gene appears not to be involved in this type of chromosome translocation. [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": 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: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": "Q7RTT5-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q7Z2R9-1", "uniprot_id": [ { "id": "SSAS1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q7Z2R9", "type": "external" } ], "mass": 10995.0, "length": 100, "protein_name": "Putative uncharacterized protein SSBP3-AS1", "gene_name": "SSBP3-AS1", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "SSBP3-AS1; C1orf191; MSTP128", "gene_names_refseq": "", "protein_names_uniprotkb": "Putative uncharacterized protein SSBP3-AS1; SSBP3 antisense RNA 1; SSBP3 antisense gene protein 1", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 0, "publication_id_list": "", "class_list": "", "function": "", "predicted_glycosites": 2, "predicted_n_glycosites": 1, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 2, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005576 extracellular region", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "Q7Z2R9-1", "record_type": "protein", "filter_code": "0000000.0000000.100000.000000000001000000.0000000011000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q86UX6-1", "uniprot_id": [ { "id": "ST32C_HUMAN", "url": "https://www.uniprot.org/uniprot/Q86UX6", "type": "external" } ], "mass": 54994.0, "length": 486, "protein_name": "Serine/threonine-protein kinase 32C", "gene_name": "STK32C", "organism": "Human", "refseq_name": "serine/threonine-protein kinase 32C isoform c", "refseq_ac": [ { "id": "NP_001305808", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001305808", "type": "external" } ], "gene_names_uniprotkb": "STK32C; YANK3", "gene_names_refseq": "PKE; STK32C; YANK3", "protein_names_uniprotkb": "Serine/threonine-protein kinase 32C; 2.7.11.1; PKE; Yet another novel kinase 3", "protein_names_refseq": "PKE protein kinase; serine/threonine-protein kinase 32C isoform c; serine/threonine-protein kinase 32C; testicular tissue protein Li 187; yet another novel kinase 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:282974)", "pathway_count": 1, "publication_count": 18, "publication_id_list": "11237011;12471243;16959974;17344846;18669648;20580033;23186163;28940097;29288388;30359551;32387766;32938616;33981976;34509645;35051231;35580925;36010968;39894887", "class_list": "", "function": "Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Silencing of STK32C inhibited the activity of the HMGB1 pathway and regulated the expression of key genes in this pathway., [RefSeq, PubMed]; The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. 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": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5T0Q5;Q86UE1", "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_biological_process": "GO:0035556 intracellular signal transduction", "synthesized_glycan_count": 0, "hit_score": 2.1, "record_id": "Q86UX6-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N5J4-1", "uniprot_id": [ { "id": "SPIC_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N5J4", "type": "external" } ], "mass": 29180.0, "length": 248, "protein_name": "Transcription factor Spi-C", "gene_name": "SPIC", "organism": "Human", "refseq_name": "transcription factor Spi-C", "refseq_ac": [ { "id": "NP_689536", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689536", "type": "external" } ], "gene_names_uniprotkb": "SPIC", "gene_names_refseq": "SPI-C; SPIC", "protein_names_uniprotkb": "Transcription factor Spi-C", "protein_names_refseq": "Spi-C transcription factor (Spi-1/PU.1 related); transcription factor Spi-C", "tax_id": 9606, "disease": "", "pathway": " (hsa:121599)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "12459275;16647686;25892735;27862975;28832583;29557506;29769354;31154438;32341419;33936100;35580925;36284347", "class_list": "", "function": "A protein interaction between SPI-C and STAT6 is the basis for a novel mechanism for regulation of IL4 induced gene expression., [RefSeq, PubMed]; Controls the development of red pulp macrophages required for red blood cells recycling and iron homeostasis. Transcription factor that binds to the PU-box, a purine-rich DNA sequence (5'-GAGGA[AT]-3') that can act as a lymphoid-specific enhancer. Regulates VCAM1 gene expression (By similarity)., [UniProtKB]; Spi-C positively regulates RANKL-mediated osteoclast differentiation and function., [RefSeq, PubMed]; The protein encoded by this gene regulates the development of red pulp macrophages, which are necessary for iron homeostasis and the recycling of red blood cells. [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": 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": "", "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_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:0030154 cell differentiation", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q8N5J4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8N7X2-2", "uniprot_id": [ { "id": "STPG3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8N7X2", "type": "external" } ], "mass": 42496.0, "length": 386, "protein_name": "Protein STPG3", "gene_name": "STPG3", "organism": "Human", "refseq_name": "protein STPG3 isoform c", "refseq_ac": [ { "id": "NP_001004353", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001004353", "type": "external" } ], "gene_names_uniprotkb": "STPG3; C9orf173", "gene_names_refseq": "C9orf173; STPG3", "protein_names_uniprotkb": "Protein STPG3; Sperm-tail PG-rich repeat-containing protein 3", "protein_names_refseq": "protein STPG3 isoform c; protein STPG3; sperm-tail PG-rich repeat-containing protein 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:441476)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "31324691;31844290", "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": "A2RU24;B7ZM72;B7ZM76;Q8NEA3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005856 cytoskeleton", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "Q8N7X2-2", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NE28-1", "uniprot_id": [ { "id": "STKL1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NE28", "type": "external" } ], "mass": 75677.0, "length": 680, "protein_name": "Serine/threonine kinase-like domain-containing protein STKLD1", "gene_name": "STKLD1", "organism": "Human", "refseq_name": "serine/threonine kinase-like domain-containing protein STKLD1", "refseq_ac": [ { "id": "NP_714921", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_714921", "type": "external" } ], "gene_names_uniprotkb": "STKLD1; C9orf96; SGK071", "gene_names_refseq": "C9orf96; STKLD1; SgK071; Sk521", "protein_names_uniprotkb": "Serine/threonine kinase-like domain-containing protein STKLD1; Serine/threonine kinase-like domain-containing protein 1; Sugen kinase 071", "protein_names_refseq": "probable inactive protein kinase-like protein SgK071; serine/threonine kinase-like domain-containing protein 1; serine/threonine kinase-like domain-containing protein STKLD1; sugen kinase 071", "tax_id": 9606, "disease": "", "pathway": " (hsa:169436)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "12471243;17344846;32387766", "class_list": "", "function": "Also known as SgK071, a unique kinase belonging to no group or family. Single orthologs have been found in other vertebrates and lower metazoans including Nematostella, but are absent from Drosophila and C. elegans. 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": 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": "Q5T8U8;Q6ZMP6;Q6ZMQ5", "ec_number_list": [], "go_molecular_function": "GO:0004674 protein serine/threonine kinase activity;GO:0005524 ATP binding", "go_cellular_component": "", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.4, "record_id": "Q8NE28-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8NEF9-1", "uniprot_id": [ { "id": "SRFB1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8NEF9", "type": "external" } ], "mass": 48634.0, "length": 429, "protein_name": "Serum response factor-binding protein 1", "gene_name": "SRFBP1", "organism": "Human", "refseq_name": "serum response factor-binding protein 1", "refseq_ac": [ { "id": "NP_689759", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_689759", "type": "external" } ], "gene_names_uniprotkb": "SRFBP1", "gene_names_refseq": "BUD22; P49; Rlb1; SRFBP1; STRAP; p49/STRAP", "protein_names_uniprotkb": "Serum response factor-binding protein 1; SRF-dependent transcription regulation-associated protein; p49/STRAP", "protein_names_refseq": "BUD22 homolog; SRF-dependent transcription regulation-associated protein; serum response factor-binding protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:153443)", "pathway_count": 1, "publication_count": 57, "publication_id_list": "15492011;17081983;18230186;18452278;18669648;19651622;19664995;19691289;19751705;20068231;21406692;23186163;24275569;25489052;25576301;25880248;26212323;26992070;27337995;27920218;28218747;28228285;28514659;28832583;29242379;29351928;29437277;29557506;29786170;30315122;30379171;30410026;30429286;31217245;31844290;32157095;32350084;32357974;32387766;32488085;32897882;32938616;32983136;33298915;33912179;33968037;33981976;34087483;34405274;34509645;34932366;35051231;35251023;35494241;35580925;36284347;40596516", "class_list": "", "function": "May be involved in regulating transcriptional activation of cardiac genes during the aging process. May play a role in biosynthesis and/or processing of SLC2A4 in adipose cells (By similarity)., [UniProtKB, UniProtKB]; P49/STRAP can be considered a bona fide co-chaperone of Hsp70., [RefSeq, PubMed]; P49/STRAP expression was increased in the old versus young adult mouse hearts and also increased with advancing population doubling levels in cultured human umbilical vein endothelial cells. The increased expression of p49/STRAP in late life may alter the status of histone acetylation and impact mitochondrial dynamics and thereby reduce mitochondrial function and cardiac performance during mammalian senescence., [RefSeq, PubMed]; P49/STRAP may be an important SRF cofactor in the transcriptional regulation of mammalian cardiac muscle genes throughout the life span, [RefSeq, PubMed]; P49/STRAP plays a role in the regulation of intracellular processes such as cardiac cellular metabolism, gene expression, and possibly aging. Publication Status: Online-Only, [RefSeq, PubMed]; SRFBP1 is an HCV-specific, pan-genotypic host entry 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": 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": 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": "Q5QFI2;Q96AH4;Q96DK2", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0048471 perinuclear region of cytoplasm;GO:0030686 90S preribosome", "go_biological_process": "GO:0006351 DNA-templated transcription;GO:0030490 maturation of SSU-rRNA", "synthesized_glycan_count": 0, "hit_score": 6.1, "record_id": "Q8NEF9-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TCT6-2", "uniprot_id": [ { "id": "SPPL3_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TCT6", "type": "external" } ], "mass": 42261.0, "length": 384, "protein_name": "Signal peptide peptidase-like 3", "gene_name": "SPPL3", "organism": "Human", "refseq_name": "signal peptide peptidase-like 3", "refseq_ac": [ { "id": "NP_620584", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_620584", "type": "external" } ], "gene_names_uniprotkb": "SPPL3; IMP2; PSL4", "gene_names_refseq": "IMP2; MDHV1887; PRO4332; PSH1; PSL4; SPPL3", "protein_names_uniprotkb": "Signal peptide peptidase-like 3; 3.4.23.-; IMP-2; Intramembrane protease 2; PSH1; Presenilin homologous protein 1; Presenilin-like protein 4; SPP-like 3", "protein_names_refseq": "SPP-like 3; intramembrane protease 2; presenilin homologous protein 1; presenilin-like protein 4; signal peptide peptidase-like 3", "tax_id": 9606, "disease": "", "pathway": " (hsa:121665)", "pathway_count": 1, "publication_count": 49, "publication_id_list": "11978763;12077416;12139484;15385547;15998642;16829952;16873890;20112406;23132852;25354954;25384971;25418920;25827571;27862975;28228285;28292959;28832583;28834231;29242379;29393594;29557506;29632046;29786170;30315122;30429286;30833945;31092671;31154438;31844290;31848261;32265295;32350084;32387766;32502341;32897882;32938616;33123756;33271119;33717175;33936100;33968037;34303967;34357683;35051231;35154160;35251023;35279766;35318648;35580925", "class_list": "", "function": "Data suggest that activation of the metalloproteinase ADAM10 by signal peptide peptidase-like 3 (SPPL3) triggered by mutant BRAF(V600E) was a critical transformation event. Publication Status: Online-Only, [RefSeq, PubMed]; Intramembrane-cleaving aspartic protease (I-CLiP) that cleaves type II membrane protein substrates in or close to their luminal transmembrane domain boundaries (PubMed:16873890, PubMed:25354954, PubMed:25827571). Acts like a sheddase by mediating the proteolytic release and secretion of active site-containing ectodomains of glycan-modifiying glycosidase and glycosyltransferase enzymes such as MGAT5, B4GAT1 and B4GALT1 (PubMed:25354954, PubMed:25827571). Catalyzes the intramembrane cleavage of the envelope glycoprotein gp130 and/or the leader peptide gp18LP of the simian foamy virus independent of prior ectodomain shedding by furin or furin-like proprotein convertase (PC)-mediated cleavage proteolysis (PubMed:23132852). May also have the ability to serve as a shedding protease for subsequent intramembrane proteolysis by SPPL2A and SPPL2B of the envelope glycoprotein gp130 (PubMed:23132852). Plays a role in the regulation of cellular glycosylation processes (PubMed:25354954). Required to link T-cell antigen receptor (TCR) and calcineurin-NFAT signaling cascades in lymphocytes by promoting the association of STIM1 and ORAI1 during store-operated calcium entry (SOCE) in a protease-independent manner (PubMed:25384971)., [UniProtKB, PubMed, PubMed, PubMed, PubMed, PubMed]; N-terminome analyses underscore the prevalence of SPPL3-mediated intramembrane proteolysis among Golgi-resident enzymes and its role in Golgi enzyme secretion. Publication Status: Online-Only, [RefSeq, PubMed]; SPP, SPPL2a, -2b, -2c, and -3 probably cleave type II-oriented substrate peptides as shown by consensus analysis, [RefSeq, PubMed]; SPPL2b is targeted through the secretory pathway to endosomes/lysosomes, whereas SPP and SPPL3 are restricted to the ER., [RefSeq, PubMed]; SPPL3-dependent downregulation of the synthesis of (neo)lacto-series glycosphingolipid is required for the staining of cell surface CD59., [RefSeq, PubMed]; Secretome analysis identifies novel signal Peptide peptidase-like 3 substrates and reveals a role of Sppl3 in multiple Golgi glycosylation pathways GeneRIF: SPPL3 substrates identified on a proteome-wide scale in human and murine cells include numerous glycan-modifying enzymes residing in the Golgi network and implicated in distinct glycosylation pathways, including N-glycosylation, mucin-type O-glycosylation, O-mannosylation and glycosaminoglycan biosynthesis., [RefSeq, PubMed]; The SPPL3-Defined Glycosphingolipid Repertoire Orchestrates HLA Class I-Mediated Immune Responses. Erratum:[Immunity. 2021 Feb 9;54(2):387. doi: 10.1016/j.immuni.2021.01.016. PMID: 33567263], [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q3MJ04;Q8TAU4;Q96DD9", "ec_number_list": [], "go_molecular_function": "GO:0042803 protein homodimerization activity;GO:0042500 aspartic endopeptidase activity, intramembrane cleaving", "go_cellular_component": "GO:0098554 cytoplasmic side of endoplasmic reticulum membrane;GO:0005791 rough endoplasmic reticulum;GO:0005794 Golgi apparatus;GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0007204 positive regulation of cytosolic calcium ion concentration;GO:0050852 T cell receptor signaling pathway;GO:0070886 positive regulation of calcineurin-NFAT signaling cascade;GO:0033619 membrane protein proteolysis", "synthesized_glycan_count": 0, "hit_score": 5.0, "record_id": "Q8TCT6-2", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q8TDW4-1", "uniprot_id": [ { "id": "ST7L_HUMAN", "url": "https://www.uniprot.org/uniprot/Q8TDW4", "type": "external" } ], "mass": 64779.0, "length": 575, "protein_name": "Suppressor of tumorigenicity 7 protein-like", "gene_name": "ST7L", "organism": "Human", "refseq_name": "suppressor of tumorigenicity 7 protein-like isoform 7", "refseq_ac": [ { "id": "NP_001295193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295193", "type": "external" } ], "gene_names_uniprotkb": "ST7L; ST7R", "gene_names_refseq": "FAM4B; ST7L; ST7R; STLR", "protein_names_uniprotkb": "Suppressor of tumorigenicity 7 protein-like; ST7-related protein", "protein_names_refseq": "ST7-related protein; suppressor of tumorigenicity 7 protein-like isoform 7; suppressor of tumorigenicity 7 protein-like; tumor suppressor ST7 like", "tax_id": 9606, "disease": "", "pathway": " (hsa:54879)", "pathway_count": 1, "publication_count": 33, "publication_id_list": "11237011;12012006;23142218;24715725;25576301;28218747;28518144;28832583;28902356;28904123;29242379;29437277;29493099;29769354;29850766;30315122;30779550;31429477;31844290;32157095;32161166;32387766;32924881;32938616;33392160;33968037;33981976;34171305;34509645;35051231;35318648;35580925;36010968", "class_list": "", "function": "MiR-24 is a direct regulator of ST7L. Erratum:[Cancer Lett. 2013 Aug 28;337(1):145], [RefSeq, PubMed]; MiR-331-3p Links to Drug Resistance of Pancreatic Cancer Cells by Activating WNT/beta-Catenin Signal via ST7L., [RefSeq, PubMed]; MiR-378 functions as an onco-miRNA by directly downregulating ST7L mRNA and protein level., [RefSeq, PubMed]; Study found that miR-331-3p was significantly upregulated in tumor specimens of pancreatic cancer (PC) patients and cell lines. Downregulation of miR-331-3p inhibited PC cell proliferation and epithelial-mesenchymal transition-mediated metastasis in vitro. ST7L was identified as a novel target gene of miR-331-3p. Results demonstrate that miR-331-3p is a tumor-promoting microRNA and a promising biomarker for PC., [RefSeq, PubMed]; Suppression of the proliferation and invasion of breast cancer cells by ST7L occurs through inhibition of activation of Wnt/GSK-3beta/beta-catenin signalling., [RefSeq, PubMed]; This gene was identified by its similarity to the ST7 tumor suppressor gene found in the chromosome 7q31 region. This gene is clustered in a tail-to-tail manner with the WNT2B gene in a chromosomal region known to be deleted and rearranged in a variety of cancers. Several transcript variants encoding many different isoforms have been described, but some have not been fully characterized. [provided by RefSeq, Feb 2011]., [RefSeq]; This study revealed important roles of miR-23b and ST7L in progression of Hepatocellular carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A8K4S7;Q49AH6;Q5TEI4;Q5U5K6;Q6N067;Q7Z2Z0;Q7Z3C2;Q8N7P8;Q8TDW1;Q8TDW2;Q8TDW3;Q9NXF3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0030308 negative regulation of cell growth", "synthesized_glycan_count": 0, "hit_score": 3.4, "record_id": "Q8TDW4-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q93045-1", "uniprot_id": [ { "id": "STMN2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q93045", "type": "external" } ], "mass": 20828.0, "length": 179, "protein_name": "Stathmin-2", "gene_name": "STMN2", "organism": "Human", "refseq_name": "stathmin-2 isoform 1", "refseq_ac": [ { "id": "NP_001186143", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186143", "type": "external" } ], "gene_names_uniprotkb": "STMN2; SCG10; SCGN10", "gene_names_refseq": "SCG10; SCGN10; STMN2", "protein_names_uniprotkb": "Stathmin-2; Protein SCG10; Superior cervical ganglion-10 protein", "protein_names_refseq": "neuron-specific growth-associated protein; neuronal growth-associated protein (silencer element); stathmin-2 isoform 1; stathmin-like 2; superior cervical ganglia, neural specific 10; superior cervical ganglion-10 protein", "tax_id": 9606, "disease": "motor peripheral neuropathy (Disease Ontology:DOID:2477); amyotrophic lateral sclerosis (Disease Ontology:DOID:332); neuropathy (Disease Ontology:DOID:870)", "pathway": " (hsa:11075); (R-HSA-9696273)", "pathway_count": 2, "publication_count": 59, "publication_id_list": "10664463;11237011;11718727;11784792;11940653;12842009;15561718;15738000;15825189;16618812;18452648;18669648;18996843;19103606;20068231;20621975;20811643;21215777;21471001;24275569;24690281;24714562;25576301;26154972;27846572;28228285;28832583;28834231;28904123;29314611;29393594;29508533;29557506;29786170;29789417;30192525;30315122;31154438;31217245;31871319;32157095;32387766;33214551;33298915;33592498;33717175;33936100;33968037;34019948;35580925;35876065;36460804;37012364;37938771;38175301;8622778;9126608;9525956;9531558", "class_list": "", "function": "Analysis of STMN2 CA repeats in italian ALS patients shows no association., [RefSeq, PubMed]; Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease. Publication Status: Online-Only, [RefSeq, PubMed]; Regulator of microtubule stability. When phosphorylated by MAPK8, stabilizes microtubules and consequently controls neurite length in cortical neurons. In the developing brain, negatively regulates the rate of exit from multipolar stage and retards radial migration from the ventricular zone (By similarity)., [UniProtKB]; STMN2 overexpression promotes cell proliferation and EMT in pancreatic cancer mediated by WNT/beta-catenin signaling., [RefSeq, PubMed]; TDP43 blocks misprocessing of STMN2 RNA., [RefSeq, PubMed]; This gene encodes a member of the stathmin family of phosphoproteins. Stathmin proteins function in microtubule dynamics and signal transduction. The encoded protein plays a regulatory role in neuronal growth and is also thought to be involved in osteogenesis. Reductions in the expression of this gene have been associated with Down's syndrome and Alzheimer's disease. Alternatively spliced transcript variants have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 6. [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": 15, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 3, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "A8K9M2;G3V110;O14952;Q6PK68", "ec_number_list": [], "go_molecular_function": "GO:0048306 calcium-dependent protein binding;GO:0015631 tubulin binding", "go_cellular_component": "GO:0005737 cytoplasm;GO:0005768 endosome;GO:0005794 Golgi apparatus;GO:0005829 cytosol;GO:0016020 membrane", "go_biological_process": "GO:0031110 regulation of microtubule polymerization or depolymerization;GO:0031117 positive regulation of microtubule depolymerization;GO:0010976 positive regulation of neuron projection development;GO:0031175 neuron projection development;GO:1990090 cellular response to nerve growth factor stimulus", "synthesized_glycan_count": 0, "hit_score": 6.2, "record_id": "Q93045-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXA5-1", "uniprot_id": [ { "id": "SUCR1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXA5", "type": "external" } ], "mass": 38698.0, "length": 334, "protein_name": "Succinate receptor 1", "gene_name": "SUCNR1", "organism": "Human", "refseq_name": "succinate receptor 1", "refseq_ac": [ { "id": "NP_149039", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_149039", "type": "external" } ], "gene_names_uniprotkb": "SUCNR1; GPR91", "gene_names_refseq": "GPR91; SUCNR1", "protein_names_uniprotkb": "Succinate receptor 1; G protein-coupled receptor 91; P2Y purinoceptor 1-like", "protein_names_refseq": "G-protein coupled receptor 91; P2Y purinoceptor 1; succinate receptor 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:56670); (R-HSA-373076); (R-HSA-418594)", "pathway_count": 3, "publication_count": 54, "publication_id_list": "10.1101/2023.09.13.557529;11007482;11273702;12120503;12522134;12524422;12955148;14617636;15141213;15280385;15326175;15929991;15951850;16540462;1656963;16634148;16754668;16844083;16923326;17139494;17339491;17462861;17876302;18434541;18577758;18588883;18820681;21796212;2263478;23770096;24715725;2534964;26992070;2748346;2834384;29242379;29557506;32983136;33392160;34133934;34769478;34813893;35051231;35494241;36652132;37315889;7498464;7568007;7689702;7775459;7937899;7946354;8015379;8406495", "class_list": "", "function": "Extracellular succinate hyperpolarizes M2 macrophages through SUCNR1/GPR91-mediated Gq signaling., [RefSeq, PubMed]; G protein-coupled receptor for succinate able to mediate signaling through Gq/GNAQ or Gi/GNAI second messengers depending on the cell type and the processes regulated (By similarity) (PubMed:15141213, PubMed:23770096, PubMed:34133934). Succinate-SUCNR1 signaling serves as a link between metabolic stress, inflammation and energy homeostasis (PubMed:18820681, PubMed:34133934). In macrophages, plays a range of immune-regulatory roles. During inflammation, succinate-SUCNR1 signaling may act as an anti-inflammatory mediator or boost inflammation depending on the inflammatory status of cells (By similarity). Hyperpolarizes M2 macrophages versus M1 phenotype through Gq signaling by regulating the transcription of genes involved in immune function (PubMed:34133934). In activated M1 macrophages, plays a pro-inflammatory role in response to LPS (By similarity). Expressed in dendritic cells, where it is involved in the sensing of immunological danger and enhances immunity. Mediates succinate triggered intracelleular calcium mobilization, induces migratory responses and acts in synergy with Toll-like receptor ligands for the production of proinflammatory cytokines as well as an enhancement of antigen-specific activation of helper T cells (PubMed:18820681). In the small intestine, mediates the activation of tuft cells by dietary succinate and triggers type 2 immunity (By similarity). In adipocytes, plays an important role in the control of energy metabolism. In response to succinate, controls leptin expression in an AMPK-JNK-CEBPA-dependent as well as circadian clock-regulated manner (By similarity). In muscle tissue, is expressed in non-muscle cells and coordinates muscle remodeling in response to the succinate produced during exercise training in a paracrine manner (By similarity). In retina, acts as a mediator of vessel growth during retinal development. In response to succinate, regulates the production of angiogenic factors, including VEGF, by retinal ganglion neurons (By similarity)., [UniProtKB, PubMed, PubMed, PubMed, UniProtKB, PubMed, UniProtKB]; GPR91 is a receptor for succinate and mediates succinate-induced hypertension. GeneRIF: This paper describes function in another species., [RefSeq, PubMed]; Human umbilical cord mesenchymal stem cell-derived exosomes carrying miR-1827 downregulate SUCNR1 to inhibit macrophage M2 polarization and prevent colorectal liver metastasis., [RefSeq, PubMed]; Protective effects of the succinate/SUCNR1 axis on damaged hepatocytes in NAFLD., [RefSeq, PubMed]; SUCNR1 Is Expressed in Human Placenta and Mediates Angiogenesis: Significance in Gestational Diabetes. Publication Status: Online-Only, [RefSeq, PubMed]; Succinate receptor 1 inhibits mitochondrial respiration in cancer cells addicted to glutamine., [RefSeq, PubMed]; This gene encodes a G-protein-coupled receptor for succinate, an intermediate molecule of the citric acid cycle. It is involved in the promotion of hematopoietic progenitor cell development, and it has a potential role in renovascular hypertension which has known correlations to renal failure, diabetes and atherosclerosis. [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": 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": 7, "reported_glycation": 0, "reported_snv": 20, "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": "A8K305;Q8TDQ8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0038023 signaling receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0070062 extracellular exosome", "go_biological_process": "GO:0007186 G protein-coupled receptor signaling pathway;GO:0097009 energy homeostasis", "synthesized_glycan_count": 0, "hit_score": 5.7, "record_id": "Q9BXA5-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.1000000010001.101.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXB7-1", "uniprot_id": [ { "id": "SPT16_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXB7", "type": "external" } ], "mass": 65263.0, "length": 569, "protein_name": "Spermatogenesis-associated protein 16", "gene_name": "SPATA16", "organism": "Human", "refseq_name": "spermatogenesis-associated protein 16", "refseq_ac": [ { "id": "NP_114161", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_114161", "type": "external" } ], "gene_names_uniprotkb": "SPATA16", "gene_names_refseq": "NYD-SP12; SPATA16; SPGF6", "protein_names_uniprotkb": "Spermatogenesis-associated protein 16; Testis development protein NYD-SP12", "protein_names_refseq": "spermatogenesis-associated protein 16; testicular tissue protein Li 185; testis development protein NYD-SP12; testis-specific Golgi protein", "tax_id": 9606, "disease": "spermatogenic failure 6 (Disease Ontology:DOID:0070167); male infertility (Disease Ontology:DOID:12336)", "pathway": " (hsa:83893)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;12529416;16372119;17665087;17847006;24825417;25892735;29065458;30912172;35248021;35580925;36177775", "class_list": "", "function": "Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population. Publication Status: Online-Only, [RefSeq, PubMed]; Case Report: report of a pregnancy obtained in a man with homozygous SPATA16 mutated globozoospermia., [RefSeq, PubMed]; Consanguineous family with three affected brothers, in whom we have identified a homozygous mutation in the spermatogenesis-specific gene SPATA16. This is the first example of a nonsyndromic male infertility condition caused by an autosomal gene defect., [RefSeq, PubMed]; Essential for spermiogenesis and male fertility (By similarity). Involved in the formation of sperm acrosome during spermatogenesis., [UniProtKB, PubMed, UniProtKB]; Results indicate that NYD-SP12 evolves rapidly in both the human and the chimpanzee lineages, which is likely caused by Darwinian positive selection and/or sexual selection., [RefSeq, PubMed]; Results suggest that NYD-SP12 is involved in spermatogenesis, and that NYD-SP12-encoded protein might function in the Golgi apparatus, [RefSeq, PubMed]; SPATA16 promoter hypermethylation and downregulation in male infertility., [RefSeq, PubMed]; Study demonstrated NYD-SP12 protein was involved in the formation of the acrosome during spermatogenesis, [RefSeq, PubMed]; Study showed that SPATA16 defects could be associated with an abnormal meiosis leading to a particular morphological sperm defect of double/multiple round-headed and multi-flagella and a higher sperm aneuploidy rate than in case of DPY19L2-defects in classic globozoospermia., [RefSeq, PubMed]; This gene encodes a testis-specific protein that belongs to the tetratricopeptide repeat-like superfamily. The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis. [provided by RefSeq, May 2010]., [RefSeq]; This study demonstrates that Spata16 is indispensable for male fertility in mice, as well as in 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": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": 2, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q0R0N4;Q0R0S0;Q0R0W2;Q0R129;Q0R131;Q0R140;Q0R1B8;Q0R1G5;Q0R1I2;Q0R1J6;Q0R1S4;Q0R202;Q0R280;Q0R2F8;Q0R2N6;Q0R2N7;Q0R2R0;Q0R2R1;Q0R2S3;Q0R2S4;Q0R2S5;Q0R2T4;Q0R2T7;Q0R2U2;Q0R2U8;Q0R2U9;Q0R2V5;Q0R2V7;Q8NE67", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005794 Golgi apparatus;GO:0001669 acrosomal vesicle", "go_biological_process": "GO:0007283 spermatogenesis;GO:0007286 spermatid development", "synthesized_glycan_count": 0, "hit_score": 1.3, "record_id": "Q9BXB7-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BXN6-1", "uniprot_id": [ { "id": "SPNXD_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BXN6", "type": "external" } ], "mass": 11029.0, "length": 97, "protein_name": "Sperm protein associated with the nucleus on the X chromosome D", "gene_name": "SPANXD", "organism": "Human", "refseq_name": "sperm protein associated with the nucleus on the X chromosome D", "refseq_ac": [ { "id": "NP_115793", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_115793", "type": "external" } ], "gene_names_uniprotkb": "SPANXD; SPANXE", "gene_names_refseq": "CT11.4; SPANX-D; SPANX-E; SPANXD; SPANXE; dJ171K16.1", "protein_names_uniprotkb": "Sperm protein associated with the nucleus on the X chromosome D; CT11.4; Cancer/testis antigen 11.4; Nuclear-associated protein SPAN-Xd; SPANX family member D; SPANX-D", "protein_names_refseq": "Cancer/testis-associated protein CTp11; SPANX family, member E; cancer/testis antigen 11.4; cancer/testis antigen family 11, member 4; nuclear-associated protein SPAN-Xd; nuclear-associated protein SPAN-Xe; sperm protein associated with the nucleus on the X chromosome D; sperm protein associated with the nucleus, X chromosome, family member D; sperm protein associated with the nucleus, X chromosome, family member E", "tax_id": 9606, "disease": "", "pathway": " (hsa:64648)", "pathway_count": 1, "publication_count": 6, "publication_id_list": "12758128;16251457;20073942;26895102;31844290;32488085", "class_list": "", "function": "High SPANXD expression is associated with breast cancer invasion., [RefSeq, PubMed]; Observational study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a sperm protein that is associated with the nucleus but, although a role in spermatogenesis is suggested, the specific function of this family member has not yet been determined. Polymorphisms in this gene may be associated with prostate cancer susceptibility. [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": 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": "Q5JWI1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9BXN6-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9HBF5-1", "uniprot_id": [ { "id": "ST20_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9HBF5", "type": "external" } ], "mass": 9024.0, "length": 79, "protein_name": "Suppressor of tumorigenicity 20 protein", "gene_name": "ST20", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "ST20; HCCS1", "gene_names_refseq": "", "protein_names_uniprotkb": "Suppressor of tumorigenicity 20 protein; HCCS-1; Human cervical cancer suppressor gene 1 protein", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": "", "pathway_count": 0, "publication_count": 6, "publication_id_list": "11857354;25892735;26992070;29242379;29769354;31844290", "class_list": "", "function": "May act as a tumor suppressor. Promotes apoptosis of cancer cells., [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": "", "ec_number_list": [], "go_molecular_function": "GO:0140608 cysteine-type endopeptidase activator activity", "go_cellular_component": "", "go_biological_process": "GO:0097190 apoptotic signaling pathway;GO:0071494 cellular response to UV-C", "synthesized_glycan_count": 0, "hit_score": 0.7, "record_id": "Q9HBF5-1", "record_type": "protein", "filter_code": "0000000.0000100.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9NS26-1", "uniprot_id": [ { "id": "SPNXA_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9NS26", "type": "external" } ], "mass": 11038.0, "length": 97, "protein_name": "Sperm protein associated with the nucleus on the X chromosome A", "gene_name": "SPANXA1; SPANXA2", "organism": "Human", "refseq_name": "sperm protein associated with the nucleus on the X chromosome A", "refseq_ac": [ { "id": "NP_038481", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_038481", "type": "external" } ], "gene_names_uniprotkb": "SPANXA1; SPANXA2; SPANXA", "gene_names_refseq": "CT11.1; CT11.3; NAP-X; SPAN-Xa; SPAN-Xb; SPAN-X; SPANX-A; SPANXA1; SPANX", "protein_names_uniprotkb": "Sperm protein associated with the nucleus on the X chromosome A; CT11.1; Cancer/testis antigen 11.1; Nuclear-associated protein SPAN-Xa; SPAN-X; SPANX family member A; SPANX-A", "protein_names_refseq": "Cancer/testis antigen 11.3; Cancer/testis-associated protein CTp11; Nuclear-associated protein SPAN-Xc; SPANX family member A; SPANX family, member A1; Sperm protein associated with the nucleus on the X chromosome C; cancer/testis antigen 11.1; cancer/testis antigen family 11, member 1; nuclear-associated protein SPAN-Xa; sperm protein associated with the nucleus on the X chromosome A; sperm protein associated with the nucleus, X chromosome, family member A1", "tax_id": 9606, "disease": "", "pathway": " (hsa:30014); (hsa:728712)", "pathway_count": 2, "publication_count": 8, "publication_id_list": "10906052;12758128;14734458;16251457;17373721;26895102;27323831;33175201", "class_list": "", "function": "High SPANXA expression is associated with breast cancer invasion., [RefSeq, PubMed]; Hypomethylated SPANXA1/A2 promotes the metastasis of head and neck squamous cell carcinoma. Publication Status: Online-Only, [RefSeq, PubMed]; Multi-gene family; cancer-testis antigen; SPAN-X protein associated with nuclear envelope of human spermatids and spermatozoa., [RefSeq, PubMed]; Over expression of SPAN-x protein is associated with nonlymphatic metastatic melanomas, [RefSeq, PubMed]; Silencing SPANXA increased c-JUN mRNA expression and blockage of c-JUN led to SNAI2 down-regulation. Results clearly characterized SPANXA as an EMT inhibitor by suppressing c-JUN-SNAI2 axis in lung adenocarcinoma., [RefSeq, PubMed]; Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A2, which appears to be a duplication of the A1 locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008]., [RefSeq]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 2, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "Q5JWI0", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0007283 spermatogenesis", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9NS26-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9P2F5-1", "uniprot_id": [ { "id": "STOX2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9P2F5", "type": "external" } ], "mass": 102671.0, "length": 926, "protein_name": "Storkhead-box protein 2", "gene_name": "STOX2", "organism": "Human", "refseq_name": "storkhead-box protein 2", "refseq_ac": [ { "id": "NP_064610", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064610", "type": "external" } ], "gene_names_uniprotkb": "STOX2; KIAA1392", "gene_names_refseq": "STOX2", "protein_names_uniprotkb": "Storkhead-box protein 2", "protein_names_refseq": "storkhead-box protein 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:56977)", "pathway_count": 1, "publication_count": 12, "publication_id_list": "11237011;20643876;25576301;27050375;27555360;27862975;28657654;29557506;31844290;33981976;35051231;35580925", "class_list": "", "function": "A long non-coding RNA within intron 3 of the STOX2 gene on 4q35.1 acts as a permissive cis-acting regulator of alternative splicing of STOX2.Non-coding RNA-directed splicing of STOX2 is affected in Finnish pre-eclamptic patients. Publication Status: Online-Only, [RefSeq, PubMed]; Our results suggest that MIA-STOX2 signaling may be a useful diagnostic and therapeutic target in oral squamous cell carcinoma, [RefSeq, PubMed]; STOX2 shows significantly lower expression in deciduas from pregnancies complicated by both pre-eclampsia and FGR as compared with controls., [RefSeq, PubMed]; This gene encodes a Storkhead-box_winged-helix domain containing protein. This protein is differentially expressed in decidual tissue and may be involved in the susceptibility to pre-eclampsia with fetal growth restriction. Alternate splicing results in multiple transcript variants. [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": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 48, "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": "A6H8U4;Q9NPS8", "ec_number_list": [], "go_molecular_function": "GO:0003700 DNA-binding transcription factor activity;GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005737 cytoplasm", "go_biological_process": "GO:0009792 embryo development ending in birth or egg hatching;GO:0006357 regulation of transcription by RNA polymerase II;GO:0001893 maternal placenta development", "synthesized_glycan_count": 0, "hit_score": 1.5, "record_id": "Q9P2F5-1", "record_type": "protein", "filter_code": "0000000.1000101.010000.000000000001000000.0100000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9UQ35-1", "uniprot_id": [ { "id": "SRRM2_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9UQ35", "type": "external" } ], "mass": 299615.0, "length": 2752, "protein_name": "Serine/arginine repetitive matrix protein 2", "gene_name": "SRRM2", "organism": "Human", "refseq_name": "serine/arginine repetitive matrix protein 2", "refseq_ac": [ { "id": "NP_057417", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_057417", "type": "external" } ], "gene_names_uniprotkb": "SRRM2; HSPC075; KIAA0324; SRL300; SRM300", "gene_names_refseq": "300-KD; CWF21; Cwc21; HSPC075; MRD72; SRL300; SRRM2; SRm300", "protein_names_uniprotkb": "Serine/arginine repetitive matrix protein 2; 300 kDa nuclear matrix antigen; SR-related nuclear matrix protein of 300 kDa; Ser/Arg-related nuclear matrix protein of 300 kDa; Serine/arginine-rich splicing factor-related nuclear matrix protein of 300 kDa; Splicing coactivator subunit SRm300; Tax-responsive enhancer element-binding protein 803; TaxREB803", "protein_names_refseq": "300 kDa nuclear matrix antigen; RNA binding protein; SR-related nuclear matrix protein of 300 kDa; ser/Arg-related nuclear matrix protein of 300 kDa; serine/arginine repetitive matrix protein 2; serine/arginine-rich splicing factor-related nuclear matrix protein of 300 kDa; splicing coactivator subunit SRm300; tax-responsive enhancer element-binding protein 803; taxREB803; testicular secretory protein Li 53", "tax_id": 9606, "disease": "autosomal dominant intellectual developmental disorder 72 (Disease Ontology:DOID:0061045); Parkinson's disease (Disease Ontology:DOID:14330); alcohol use disorder (Disease Ontology:DOID:1574)", "pathway": " (hsa:23524); (R-HSA-72163); (R-HSA-9770562); (R-HSA-9918481)", "pathway_count": 4, "publication_count": 288, "publication_id_list": "10668804;10669729;10882114;11004489;11014198;11060040;11101529;11233976;11237011;11747608;11991638;12176931;12411573;12414731;12477934;14519844;14625303;14713954;14749727;14762106;15037765;15084397;15144186;15302935;15565158;16055720;16083285;16314458;16565220;16809785;16964243;17081983;17095540;17128255;17287340;17322306;17332742;17525332;17606899;17924679;18077418;18212344;18220336;18288197;18322460;18452278;18491316;18593880;18669648;18707149;18767875;19007248;19103666;19165350;19217410;19413330;19415658;19536130;19562805;19608861;19651622;19664994;19664995;19690332;19691289;19854871;20058876;20068230;20068231;20166139;20230923;20423332;20695905;20980672;21295486;21406692;21536652;2176635;21911577;22110043;22223895;22365833;22544926;22645359;22813749;22898188;22959432;22961380;23186163;23222130;23236153;23301498;23345524;23481700;23874216;24076191;24129315;24149845;24196718;24275569;24304693;24366607;24448447;24714562;24715725;24737827;24914973;25301780;25301781;25418920;25469497;25505266;25555158;25576301;2558966;25645385;25810538;26092250;26135620;26154972;26375851;26385511;26420826;26728094;26768311;26811146;26853435;26969736;26992070;27108190;27377154;27459055;27600516;27655845;27683217;27846572;27862975;27869121;27920218;28062851;28063628;28076346;28096519;28228285;28502770;28514659;28649982;28657654;28781166;28832583;28855257;28904123;28911096;29186539;29237092;29242379;29274231;29301961;29351928;29360106;29361316;29393594;29493099;29508533;29557506;29632046;29632711;2963332;29786170;29902443;30059200;30139799;30257008;30315122;30315277;30379171;30410026;30429286;30524438;30599162;30620550;30705154;30728453;30765414;30975767;31154438;31217245;31373491;31409651;31492838;31530632;31611695;31844290;31848261;31998317;32119511;32157095;32179686;32265295;32329775;32350084;32357974;32387766;32488085;32494006;32502341;32574038;32816001;32897882;32938616;32938750;32983136;33123756;33141586;33177556;33214551;33243851;33298915;33446560;33509932;33592498;33691108;33717175;33912179;33936100;33968037;33981976;34019948;34087483;34171305;34211107;34229054;34301950;34509645;34561969;34725712;34822310;34846842;34932366;35051231;35132862;35138101;35154160;35177536;35215846;35251023;35254053;35289036;35318648;35385551;35494241;35513511;35561310;35567594;35580925;35705054;35929045;36010968;36241641;36284347;36580660;37217939;37340703;37541260;3757028;38253038;38289482;38665916;38838015;39302247;39531497;39534244;40136647;40307207;40596516;40914422;8566756;8608946;9016565;9242493;9512519;9524131;9531537;9539711;9659921;9671485;9701291;9731529", "class_list": "", "function": "Required for pre-mRNA splicing as component of the spliceosome. 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]; SRRM2 may be a potential biomarker and immunotherapy target for multiple myeloma: a real-world study based on flow cytometry detection. Erratum:[Clin Exp Med. 2024 Jul 18;24(1):159. doi: 10.1007/s10238-024-01393-1. PMID: 39023571] Publication Status: Online-Only, [RefSeq, PubMed]; SRRM2 organizes splicing condensates to regulate alternative splicing., [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": 57, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 57, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 57, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 516, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 172, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 2, "disease_count": 3, "glyco_site_count": 61, "binding_glycan_count": 0, "secondary_ac_list": "A6NKB9;D3DU97;O15038;O94803;Q6NSL3;Q6PIM3;Q6PK40;Q8IW17;Q96GY7;Q9P0G1;Q9UHA8;Q9UQ36;Q9UQ37;Q9UQ38;Q9UQ40", "ec_number_list": [], "go_molecular_function": "GO:0003723 RNA binding;GO:0003729 mRNA binding;GO:0070742 C2H2 zinc finger domain binding", "go_cellular_component": "GO:0005634 nucleus;GO:0005654 nucleoplasm;GO:0016607 nuclear speck;GO:0015030 Cajal body;GO:0071013 catalytic step 2 spliceosome", "go_biological_process": "GO:0000398 mRNA splicing, via spliceosome", "synthesized_glycan_count": 0, "hit_score": 34.8, "record_id": "Q9UQ35-1", "record_type": "protein", "filter_code": "0000000.1000111.010000.000000000001000000.0100000001001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y6Q2-1", "uniprot_id": [ { "id": "STON1_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y6Q2", "type": "external" } ], "mass": 83141.0, "length": 735, "protein_name": "Stonin-1", "gene_name": "STON1", "organism": "Human", "refseq_name": "STON1-GTF2A1L protein isoform 2", "refseq_ac": [ { "id": "NP_001185522", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001185522", "type": "external" } ], "gene_names_uniprotkb": "STON1; SALF; SBLF; STN1", "gene_names_refseq": "SALF; STON1-GTF2A1L", "protein_names_uniprotkb": "Stonin-1; Stoned B-like factor", "protein_names_refseq": "STON1-GTF2A1L protein isoform 2", "tax_id": 9606, "disease": "", "pathway": " (hsa:11037); (hsa:286749); (R-HSA-8856825); (R-HSA-8856828)", "pathway_count": 4, "publication_count": 231, "publication_id_list": "10097102;10364255;10436022;10535736;10542231;10559856;10559861;10559924;10567358;10613896;10625686;10766823;10769163;10983987;11071885;11076969;11082044;11159353;11231140;11237011;11239472;11247302;11381094;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;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;17074750;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;24746795;24789820;24966051;25107275;25303366;25341920;25645385;26042225;26403691;26829388;26992070;27600516;28228285;28775256;28832583;2890644;29242379;29485866;29493099;29557506;29786170;31154438;31844290;31848261;32157095;32502341;32897882;32938616;33592498;33968037;34087483;34171305;3417785;35051231;35580925;36010968;36284347;37340703;6146630;7569928;7822302;7877694;8524399;8552632;8553074;8837779;9092476;9100026;9169477;9303539;9427626;9428629;9635431;9723620;9736607;9812899", "class_list": "", "function": "GWAS for neovascular age-related macular degeneration bilaterality found new genetic loci STON1-GTF2A1L/LHCGR/FSHR Publication Status: Online-Only, [RefSeq, PubMed]; May be involved in the endocytic machinery., [UniProtKB]; STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants. The significance of these read-through variants and the function of the resulting protein products have not yet been determined. [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": 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": 25, "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": "A0A0A6YYH4;A8MXJ1;B5MCF5;B7ZL16;Q96JE3;Q9BYX3", "ec_number_list": [], "go_molecular_function": "GO:0035615 clathrin adaptor activity", "go_cellular_component": "GO:0005829 cytosol;GO:0031252 cell leading edge;GO:0030122 AP-2 adaptor complex;GO:0042995 cell projection;GO:0008021 synaptic vesicle", "go_biological_process": "GO:0030100 regulation of endocytosis;GO:0072583 clathrin-dependent endocytosis;GO:0048488 synaptic vesicle endocytosis", "synthesized_glycan_count": 0, "hit_score": 23.5, "record_id": "Q9Y6Q2-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q2WGJ8-1", "uniprot_id": [ { "id": "CTSRQ_HUMAN", "url": "https://www.uniprot.org/uniprot/Q2WGJ8", "type": "external" } ], "mass": 27046.0, "length": 235, "protein_name": "Cation channel sperm-associated auxiliary subunit theta", "gene_name": "CATSPERQ", "organism": "Human", "refseq_name": "cation channel sperm-associated auxiliary subunit theta isoform 1", "refseq_ac": [ { "id": "NP_001239331", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001239331", "type": "external" } ], "gene_names_uniprotkb": "CATSPERQ; C8orfK29; TMEM249", "gene_names_refseq": "C8ORFK29; CATSPERQ; TMEM249", "protein_names_uniprotkb": "Cation channel sperm-associated auxiliary subunit theta; Cation channel sperm-associated auxiliary subunit TMEM249; Catsper channel auxiliary subunit theta; Transmembrane protein 249", "protein_names_refseq": "cation channel sperm associated auxiliary subunit theta, transmembrane protein 249; cation channel sperm-associated auxiliary subunit TMEM249; cation channel sperm-associated auxiliary subunit theta isoform 1; cation channel sperm-associated auxiliary subunit theta; putative transmembrane protein C8orfK29; transmembrane protein 249", "tax_id": 9606, "disease": "", "pathway": " (hsa:340393)", "pathway_count": 1, "publication_count": 3, "publication_id_list": "11237011;29351928;33592498", "class_list": "", "function": "Auxiliary component of the CatSper complex, a complex involved in sperm cell hyperactivation., [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": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0036128 CatSper complex;GO:0097228 sperm principal piece", "go_biological_process": "GO:0007283 spermatogenesis;GO:0030317 flagellated sperm motility;GO:0048240 sperm capacitation", "synthesized_glycan_count": 0, "hit_score": 0.6, "record_id": "Q2WGJ8-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A087WVF3-1", "uniprot_id": [ { "id": "TBC3D_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A087WVF3", "type": "external" } ], "mass": 62187.0, "length": 549, "protein_name": "TBC1 domain family member 3D", "gene_name": "TBC1D3D", "organism": "Human", "refseq_name": "TBC1 domain family member 3D", "refseq_ac": [ { "id": "NP_001278394", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001278394", "type": "external" } ], "gene_names_uniprotkb": "TBC1D3D", "gene_names_refseq": "PRC17; TBC1D3D; TBC1D3", "protein_names_uniprotkb": "TBC1 domain family member 3D", "protein_names_refseq": "Prostate cancer gene 17 protein; Rab GTPase-activating protein PRC17; TBC1 domain family member 3D; TBC1 domain family member 3; TBC1 domain family, member 3H; TRE17 alpha protein", "tax_id": 9606, "disease": "", "pathway": " (hsa:101060389)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "16863688;21030649", "class_list": "", "function": "Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (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": 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:0005096 GTPase activator activity", "go_cellular_component": "GO:0005768 endosome;GO:0005886 plasma membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.3, "record_id": "A0A087WVF3-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59538-1", "uniprot_id": [ { "id": "T2R31_HUMAN", "url": "https://www.uniprot.org/uniprot/P59538", "type": "external" } ], "mass": 35278.0, "length": 309, "protein_name": "Taste receptor type 2 member 31", "gene_name": "TAS2R31", "organism": "Human", "refseq_name": "taste receptor type 2 member 31", "refseq_ac": [ { "id": "NP_795366", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_795366", "type": "external" } ], "gene_names_uniprotkb": "TAS2R31; TAS2R44", "gene_names_refseq": "T2R31; T2R44; T2R53; TAS2R31; TAS2R44", "protein_names_uniprotkb": "Taste receptor type 2 member 31; T2R31; T2R44; T2R53; Taste receptor type 2 member 44; Taste receptor type 2 member 53", "protein_names_refseq": "taste receptor type 2 member 31; taste receptor type 2 member 44; taste receptor type 2 member 53; taste receptor, type 2, member 31", "tax_id": 9606, "disease": "", "pathway": " (hsa:259290); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 78, "publication_id_list": "10761935;11007482;11208605;11696554;11917125;12015988;12120503;12139982;12379855;12581520;12584440;1325650;1329206;14634208;15194188;15353592;15385606;15496549;15537898;15576628;15738140;15951850;16634148;16923326;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23632330;23674604;24157691;24214976;24235081;24360415;24633359;2534964;25853419;26024668;26377607;27071541;2748346;27966661;28256214;2834384;29466837;29614098;29659026;29744740;30013099;30563861;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Genotypes for the Val240Ile (rs10772423) SNP in TAS2R31 remains significant at a Bonferroni corrected alpha of 0.025., [RefSeq, PubMed]; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). Activated by the sulfonyl amide sweeteners saccharin and acesulfame K., [UniProtKB]; Results show that NNS-sweetened products with acesulfame potassium (Ace-K) were consumed by 50% and 15% of mothers and children, respectively, with no association between intake and TAS2R31. The TAS2R31 WMVI haplotype was partly responsible for children's hedonic response to Ace-K, highlighting a potential role for inborn differences in vulnerability to overconsumption of Ace-K-containing products. Publication Status: Online-Only, [RefSeq, PubMed]; TAS2R44 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). For further information on TAS2Rs, see MIM 604791.[supplied by OMIM, Mar 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": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "P59547;Q17R84;Q645X5", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 7.9, "record_id": "P59538-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59542-1", "uniprot_id": [ { "id": "T2R19_HUMAN", "url": "https://www.uniprot.org/uniprot/P59542", "type": "external" } ], "mass": 33908.0, "length": 299, "protein_name": "Taste receptor type 2 member 19", "gene_name": "TAS2R19", "organism": "Human", "refseq_name": "taste receptor type 2 member 19", "refseq_ac": [ { "id": "NP_795369", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_795369", "type": "external" } ], "gene_names_uniprotkb": "TAS2R19; TAS2R23; TAS2R48", "gene_names_refseq": "MSTP058; T2R19; T2R23; T2R48; TAS2R19; TAS2R23; TAS2R48", "protein_names_uniprotkb": "Taste receptor type 2 member 19; T2R48; Taste receptor type 2 member 23; Taste receptor type 2 member 48", "protein_names_refseq": "taste receptor type 2 member 19; taste receptor, type 2, member 19; taste receptor, type 2, member 23; taste receptor, type 2, member 48", "tax_id": 9606, "disease": "", "pathway": " (hsa:259294); (R-HSA-418594); (R-HSA-420499)", "pathway_count": 3, "publication_count": 51, "publication_id_list": "11007482;11208605;11696554;11917125;12120503;12139982;12379855;12581520;1329206;15194188;15496549;15576628;15951850;16634148;16923326;17081983;18434541;18577758;20022913;20555319;20675712;21148030;23121374;23674604;24235081;2534964;27071541;2748346;2834384;29614098;29741879;32227702;32938616;33592498;34561969;7476890;7617140;7620613;7623957;7759551;7908515;7937899;8015379;8406495;8887960;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator), [RefSeq, PubMed]; Polymorphism of TAS2R3, TAS2R5, TAS2R19, and TAS2R50 genes and bitter food intake frequency inelderly woman., [RefSeq, PubMed]; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity)., [UniProtKB]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 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": 1, "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": "Q3MIJ4;Q645X8", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0050909 sensory perception of taste", "synthesized_glycan_count": 0, "hit_score": 5.3, "record_id": "P59542-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.1000000000001.100.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "A0A1B0GVZ9-1", "uniprot_id": [ { "id": "TM269_HUMAN", "url": "https://www.uniprot.org/uniprot/A0A1B0GVZ9", "type": "external" } ], "mass": 22507.0, "length": 203, "protein_name": "Transmembrane protein 269", "gene_name": "TMEM269", "organism": "Human", "refseq_name": "transmembrane protein 269", "refseq_ac": [ { "id": "NP_001341531", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001341531", "type": "external" } ], "gene_names_uniprotkb": "TMEM269", "gene_names_refseq": "TMEM269", "protein_names_uniprotkb": "Transmembrane protein 269", "protein_names_refseq": "transmembrane protein 269", "tax_id": 9606, "disease": "", "pathway": " (hsa:100129924)", "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": 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": "A0A1B0GUR4", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.1, "record_id": "A0A1B0GVZ9-1", "record_type": "protein", "filter_code": "0000000.0000001.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "B4DZS4-1", "uniprot_id": [ { "id": "T11X1_HUMAN", "url": "https://www.uniprot.org/uniprot/B4DZS4", "type": "external" } ], "mass": 56880.0, "length": 502, "protein_name": "T-complex protein 11-like X-linked protein 1", "gene_name": "TCP11X1; TCP11X2", "organism": "Human", "refseq_name": "T-complex protein 11-like X-linked protein 1 isoform 1", "refseq_ac": [ { "id": "NP_001391955", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001391955", "type": "external" } ], "gene_names_uniprotkb": "TCP11X1; TCP11X2; TCP11X1", "gene_names_refseq": "TCP11X1", "protein_names_uniprotkb": "T-complex protein 11-like X-linked protein 1", "protein_names_refseq": "T-complex protein 11 X-linked protein 1; T-complex protein 11 homolog; T-complex protein 11-like X-linked protein 1 isoform 1; T-complex protein 11-like X-linked protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:100996631)", "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": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "A0A2R8YDF9", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0001669 acrosomal vesicle;GO:0036126 sperm flagellum", "go_biological_process": "GO:1902490 regulation of sperm capacitation", "synthesized_glycan_count": 0, "hit_score": 0.2, "record_id": "B4DZS4-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9BU79-1", "uniprot_id": [ { "id": "TM243_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9BU79", "type": "external" } ], "mass": 13391.0, "length": 118, "protein_name": "Transmembrane protein 243", "gene_name": "TMEM243", "organism": "Human", "refseq_name": "transmembrane protein 243 isoform b", "refseq_ac": [ { "id": "NP_001316401", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001316401", "type": "external" } ], "gene_names_uniprotkb": "TMEM243; C7orf23", "gene_names_refseq": "C7orf23; MM-TRAG; MMTRAG; TMEM243", "protein_names_uniprotkb": "Transmembrane protein 243; MDR1- and mitochondrial taxol resistance-associated protein; MM-TRAG", "protein_names_refseq": "MDR1 and mitochondrial taxol resistance associated; MDR1- and mitochondrial taxol resistance-associated protein; transmembrane protein 243 isoform b; transmembrane protein 243, mitochondrial; transmembrane protein C7orf23", "tax_id": 9606, "disease": "", "pathway": " (hsa:79161)", "pathway_count": 1, "publication_count": 8, "publication_id_list": "11237011;15556294;29242379;31844290;32502341;34357683;34561969;36284347", "class_list": "", "function": "Data showed MGC4175 fused to the carboxy terminus of enhanced green fluorescent protein (EGFP) was localized to the mitochondria, and its overexpression was not caused by genomic amplification or gene arrangement., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_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": "A4D1C6;B2R9I4;D6W5P1", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 0.9, "record_id": "Q9BU79-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q92544-1", "uniprot_id": [ { "id": "TM9S4_HUMAN", "url": "https://www.uniprot.org/uniprot/Q92544", "type": "external" } ], "mass": 74519.0, "length": 642, "protein_name": "Transmembrane 9 superfamily member 4", "gene_name": "TM9SF4", "organism": "Human", "refseq_name": "transmembrane 9 superfamily member 4 isoform 1 precursor", "refseq_ac": [ { "id": "NP_055557", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055557", "type": "external" } ], "gene_names_uniprotkb": "TM9SF4; KIAA0255; TUCAP1", "gene_names_refseq": "TM9SF4; dJ836N17.2", "protein_names_uniprotkb": "Transmembrane 9 superfamily member 4; Tumor cannibalism associated protein 1", "protein_names_refseq": "dinucleotide oxidase disulfide thiol exchanger 3 superfamily member 4; transmembrane 9 superfamily member 4 isoform 1 precursor; transmembrane 9 superfamily protein member 4; tumor cannibalism associated protein 1", "tax_id": 9606, "disease": "", "pathway": " (hsa:9777)", "pathway_count": 1, "publication_count": 62, "publication_id_list": "11237011;18088087;18452278;19893578;23481700;23555621;25418920;25502872;25505266;25576301;25645385;25659576;25880248;25961573;25999474;26154972;26375851;26992070;27920218;28218747;28228285;28467828;28649982;28904123;29242379;29314611;29331515;29437277;29493099;29508533;29557506;29769354;29774024;29786170;30301779;30410026;30484775;31249383;31611695;31844290;32157095;32350084;32357974;32387766;32938616;32983136;33298915;33592498;33912179;33936100;33968037;34185709;34357683;34725712;35051231;35154160;35251023;35398597;35561310;35580925;36175399;38665916", "class_list": "", "function": "Associates with proteins harboring glycine-rich transmembrane domains and ensures their efficient localization to the cell surface (PubMed:25999474). Regulates the assembly and activity of V-ATPase in colon cancer cells via its interaction with V-type proton ATPase subunit H (ATP6V1H) and contributes to V-ATPase-mediated pH alterations in cancer cells which play an important role in drug resistance and invasiveness of colon cancer cells (PubMed:25659576). Plays an important role in an atypical phagocytic activity of metastatic melanoma cells called cannibalism and is involved in the pH regulation of the intracellular vesicles in tumor cells (PubMed:19893578)., [UniProtKB, PubMed, PubMed, PubMed]; Our study shows for the first time the important role of TM9SF4 in the aberrant constitutive activation of the V-ATPase, and the development of a malignant phenotype., [RefSeq, PubMed]; Results show that TM9SF4 controls the sorting of TMDs at the ER-Golgi interface. Remarkably, sorting of T-R1 in HCT116 cells was different from that in HEK cells: in HCT116 cells, a substantial fraction of T-R1 was localized to the Golgi complex, and it was relocated to the ER by genetic ablation of TM9SF4. Publication Status: Online-Only, [RefSeq, PubMed]; Results uncovered a novel role of TM9SF4 proteins in alleviating endoplasmic reticulum stress and protecting chemoresistant breast cancer cells from apoptotic/necrotic cell death, [RefSeq, PubMed]; TM9SF4 Is a Crucial Regulator of Inflammation and ER Stress in Inflammatory Bowel Disease., [RefSeq, PubMed]; TM9SF4 is a direct target of HIF-1alpha, down-regulated in leukemic cells by hypoxia and involved in cell adhesion. Publication Status: Online-Only, [RefSeq, PubMed]; TM9SF4 is a new marker of malignancy, representing a potential new target for anti-tumour strategies with a specific role in tumour cannibalism and in the establishment of a metastatic phenotype., [RefSeq, PubMed]; TM9SF4 is an F-actin disassembly factor that promotes tumor progression and metastasis. 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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "B0QYT7;Q9NUA3", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005769 early endosome;GO:0005794 Golgi apparatus;GO:0016020 membrane", "go_biological_process": "GO:0007155 cell adhesion;GO:2000010 positive regulation of protein localization to cell surface;GO:0001666 response to hypoxia;GO:0006909 phagocytosis;GO:0072657 protein localization to membrane", "synthesized_glycan_count": 0, "hit_score": 6.5, "record_id": "Q92544-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P56557-1", "uniprot_id": [ { "id": "TM50B_HUMAN", "url": "https://www.uniprot.org/uniprot/P56557", "type": "external" } ], "mass": 17936.0, "length": 158, "protein_name": "Transmembrane protein 50B", "gene_name": "TMEM50B", "organism": "Human", "refseq_name": "transmembrane protein 50B", "refseq_ac": [ { "id": "NP_006125", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006125", "type": "external" } ], "gene_names_uniprotkb": "TMEM50B; C21orf4; PRO193", "gene_names_refseq": "C21orf4; HCVP7TP3; TMEM50B", "protein_names_uniprotkb": "Transmembrane protein 50B; HCV p7-trans-regulated protein 3", "protein_names_refseq": "HCV p7-trans-regulated protein 3; HCV p7-transregulated protein 3; transmembrane protein 50B", "tax_id": 9606, "disease": "", "pathway": " (hsa:757)", "pathway_count": 1, "publication_count": 26, "publication_id_list": "10077530;11237011;12975309;22223895;24715725;26992070;27862975;28904123;29769354;30779550;31154438;31611695;31937595;32157095;32161166;32350084;32357974;32387766;32938616;33392160;33691108;33912179;33936100;35051231;35580925;36010968", "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": "B2R4L4;D3DSF1;O60537;Q5PY47", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0000139 Golgi membrane;GO:0005783 endoplasmic reticulum;GO:0005886 plasma membrane;GO:0005789 endoplasmic reticulum membrane;GO:0016020 membrane", "go_biological_process": "GO:0032511 late endosome to vacuole transport via multivesicular body sorting pathway", "synthesized_glycan_count": 0, "hit_score": 2.7, "record_id": "P56557-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P30408-1", "uniprot_id": [ { "id": "T4S1_HUMAN", "url": "https://www.uniprot.org/uniprot/P30408", "type": "external" } ], "mass": 21632.0, "length": 202, "protein_name": "Transmembrane 4 L6 family member 1", "gene_name": "TM4SF1", "organism": "Human", "refseq_name": "transmembrane 4 L6 family member 1 isoform 1", "refseq_ac": [ { "id": "NP_055035", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055035", "type": "external" } ], "gene_names_uniprotkb": "TM4SF1; M3S1; TAAL6", "gene_names_refseq": "H-L6; L6; M3S1; TAAL6; TM4SF1", "protein_names_uniprotkb": "Transmembrane 4 L6 family member 1; Membrane component chromosome 3 surface marker 1; Tumor-associated antigen L6", "protein_names_refseq": "membrane component, chromosome 3, surface marker 1; transmembrane 4 L6 family member 1 isoform 1; transmembrane 4 L6 family member 1; transmembrane 4 superfamily member 1; tumor-associated antigen L6", "tax_id": 9606, "disease": "", "pathway": " (hsa:4071)", "pathway_count": 1, "publication_count": 19, "publication_id_list": "11102519;11237011;1565644;26621839;30429286;30833945;31844290;33968037;34185709;35051231;36215666;36241641;36252184;36274500;36284347;37069693;38251858;38665916;7510285", "class_list": "", "function": "Breast cancer malignancy is governed by regulation of the macroH2A2/TM4SF1 axis, the AKT/NF-kappaB pathway, and elevated MMP13 expression., [RefSeq, PubMed]; MicroRNA-501-3p targeting TM4SF1 facilitates tumor-related behaviors of gastric cancer cells via EMT signaling pathway., [RefSeq, PubMed]; TM4SF1 upregulates MYH9 to activate the NOTCH pathway to promote cancer stemness and lenvatinib resistance in HCC. Publication Status: Online-Only, [RefSeq, PubMed]; The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface antigen and is highly expressed in different carcinomas. [provided by RefSeq, Jul 2008]., [RefSeq]; Tm4sf1-marked Endothelial Subpopulation Is Dysregulated in Pulmonary Arterial Hypertension., [RefSeq, PubMed]", "predicted_glycosites": 2, "predicted_n_glycosites": 2, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 1, "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": "Q6IB51", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "", "synthesized_glycan_count": 0, "hit_score": 2.2, "record_id": "P30408-1", "record_type": "protein", "filter_code": "0000000.1100101.100000.000000000001000000.0100000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q5T160-1", "uniprot_id": [ { "id": "SYRM_HUMAN", "url": "https://www.uniprot.org/uniprot/Q5T160", "type": "external" } ], "mass": 65505.0, "length": 578, "protein_name": "Probable arginine--tRNA ligase, mitochondrial", "gene_name": "RARS2", "organism": "Human", "refseq_name": "probable arginine--tRNA ligase, mitochondrial isoform 1 precursor", "refseq_ac": [ { "id": "NP_064716", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_064716", "type": "external" } ], "gene_names_uniprotkb": "RARS2; RARSL", "gene_names_refseq": "ArgRS; DALRD2; PCH6; PRO1992; RARS2; RARSL", "protein_names_uniprotkb": "Probable arginine--tRNA ligase, mitochondrial; 6.1.1.19; ArgRS; Arginyl-tRNA synthetase", "protein_names_refseq": "probable arginine--tRNA ligase, mitochondrial isoform 1 precursor; probable arginine--tRNA ligase, mitochondrial; probable arginyl-tRNA synthetase, mitochondrial", "tax_id": 9606, "disease": "early infantile epileptic encephalopathy (Disease Ontology:DOID:0050709); pontocerebellar hypoplasia type 6 (Disease Ontology:DOID:0060275)", "pathway": " (hsa:57038); (R-HSA-379726)", "pathway_count": 2, "publication_count": 39, "publication_id_list": "10329163;10684970;10764807;10828066;11237011;12690580;15274629;15779907;16300924;17384640;17847012;22086604;22569581;26741492;26992070;28218747;28411811;28834231;28904123;29242379;29437277;29493099;30006346;30315122;30379171;30429286;32265295;32725632;33717175;33798445;33912179;34357683;35468344;38009286;40596516;7755634;8078941;9278442;9466989", "class_list": "", "function": "Catalyzes the attachment of arginine to tRNA(Arg) in a two-step reaction: arginine is first activated by ATP to form Arg-AMP and then transferred to the acceptor end of tRNA(Arg)., [UniProtKB, PubMed, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB, UniProtKB]; Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations., [RefSeq, PubMed]; Molecular investigations of RARS2 disclosed the c.25A>G/p.I9V and the c.1586+3A>T in family A., [RefSeq, PubMed]; Mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2, may have a role in pontocerebellar hypoplasia type 6 [case report], [RefSeq, PubMed]; Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6., [RefSeq, PubMed]; This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]., [RefSeq]; Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late., [RefSeq, PubMed]", "predicted_glycosites": 0, "predicted_n_glycosites": 0, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 1, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 1, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 1, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 1, "reported_phosphosites": 0, "reported_mutagensis": 12, "reported_glycation": 0, "reported_snv": 12, "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": "B2RDT7;Q96FU5;Q9H8K8", "ec_number_list": [ { "id": "6.1.1.19", "url": "https://www.rhea-db.org/rhea/?query=ec:6.1.1.19", "type": "external" } ], "go_molecular_function": "GO:0003723 RNA binding;GO:0005524 ATP binding;GO:0004814 arginine-tRNA ligase activity", "go_cellular_component": "GO:0005739 mitochondrion;GO:0005759 mitochondrial matrix;GO:0031966 mitochondrial membrane;GO:0005737 cytoplasm", "go_biological_process": "GO:0006418 tRNA aminoacylation for protein translation;GO:0006420 arginyl-tRNA aminoacylation;GO:0032543 mitochondrial translation", "synthesized_glycan_count": 0, "hit_score": 4.2, "record_id": "Q5T160-1", "record_type": "protein", "filter_code": "0000000.1100111.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "H3BTG2-1", "uniprot_id": [ { "id": "TEX46_HUMAN", "url": "https://www.uniprot.org/uniprot/H3BTG2", "type": "external" } ], "mass": 14053.0, "length": 121, "protein_name": "Testis-expressed protein 46", "gene_name": "TEX46", "organism": "Human", "refseq_name": "testis-expressed protein 46 precursor", "refseq_ac": [ { "id": "NP_001229450", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001229450", "type": "external" } ], "gene_names_uniprotkb": "TEX46; C1orf234", "gene_names_refseq": "C1orf234; TEX#; TEX46", "protein_names_uniprotkb": "Testis-expressed protein 46", "protein_names_refseq": "testis-expressed protein 46 precursor; testis-expressed protein 46; uncharacterized protein C1orf234", "tax_id": 9606, "disease": "", "pathway": " (hsa:729059)", "pathway_count": 1, "publication_count": 2, "publication_id_list": "11237011;37217939", "class_list": "", "function": "Essential for male fertility, sperm head formation and sperm penetration through the egg zona pellucida., [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": 0, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "H3BR39", "ec_number_list": [], "go_molecular_function": "", "go_cellular_component": "GO:0016020 membrane", "go_biological_process": "GO:0007338 single fertilization", "synthesized_glycan_count": 0, "hit_score": 0.5, "record_id": "H3BTG2-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0100000000000.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "Q9Y5L4-1", "uniprot_id": [ { "id": "TIM13_HUMAN", "url": "https://www.uniprot.org/uniprot/Q9Y5L4", "type": "external" } ], "mass": 10500.0, "length": 95, "protein_name": "Mitochondrial import inner membrane translocase subunit Tim13", "gene_name": "TIMM13", "organism": "Human", "refseq_name": "mitochondrial import inner membrane translocase subunit Tim13", "refseq_ac": [ { "id": "NP_036590", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_036590", "type": "external" } ], "gene_names_uniprotkb": "TIMM13; TIM13B; TIMM13A; TIMM13B", "gene_names_refseq": "TIM13B; TIM13; TIMM13A; TIMM13B; TIMM13; ppv1", "protein_names_uniprotkb": "Mitochondrial import inner membrane translocase subunit Tim13", "protein_names_refseq": "mitochondrial import inner membrane translocase subunit Tim13B; mitochondrial import inner membrane translocase subunit Tim13; translocase of inner mitochondrial membrane 13 homolog", "tax_id": 9606, "disease": "deafness-dystonia-optic neuronopathy syndrome (Disease Ontology:DOID:0050757)", "pathway": " (hsa:26517); (R-HSA-1268020)", "pathway_count": 2, "publication_count": 56, "publication_id_list": "10552927;10611480;11237011;11489896;14726512;15254020;15644312;15683237;16185709;16849325;17510655;18174896;18678864;19409522;19453276;19767391;19962426;20593814;21750375;23041349;23186163;23481700;23597483;23811401;25315652;25576301;26697887;26992070;27600516;27846572;27920218;28218747;28228285;28514659;28832583;28834231;28904123;29242379;29331515;29393594;29557506;30315122;30779550;31844290;31848261;32157095;32387766;32488085;32938616;33537174;33592498;33691108;34185709;36010968;37938771;40930100", "class_list": "", "function": "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., [UniProtKB, PubMed, PubMed, UniProtKB, UniProtKB]; This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a 70 kDa complex in the intermembrane space. [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": 1, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 1, "reported_interactions": 0, "missing_score": 0, "biomarker_type": "", "glycan_count": 1, "disease_count": 1, "glyco_site_count": 0, "binding_glycan_count": 0, "secondary_ac_list": "P62206;Q9UHL8;Q9WTL1", "ec_number_list": [], "go_molecular_function": "GO:0008270 zinc ion 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:0015031 protein transport;GO:0045039 protein insertion into mitochondrial inner membrane;GO:0006626 protein targeting to mitochondrion;GO:0007605 sensory perception of sound", "synthesized_glycan_count": 0, "hit_score": 5.9, "record_id": "Q9Y5L4-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0100000000001.000.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "O43435-1", "uniprot_id": [ { "id": "TBX1_HUMAN", "url": "https://www.uniprot.org/uniprot/O43435", "type": "external" } ], "mass": 43133.0, "length": 398, "protein_name": "T-box transcription factor TBX1", "gene_name": "TBX1", "organism": "Human", "refseq_name": "T-box transcription factor TBX1 isoform B", "refseq_ac": [ { "id": "NP_005983", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005983", "type": "external" } ], "gene_names_uniprotkb": "TBX1", "gene_names_refseq": "CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TBX1; TGA; VCFS; VCF", "protein_names_uniprotkb": "T-box transcription factor TBX1; T-box protein 1; Testis-specific T-box protein", "protein_names_refseq": "T-box 1 transcription factor C; T-box transcription factor TBX1 isoform B; Testis-specific T-box protein; brachyury", "tax_id": 9606, "disease": "autism spectrum disorder (Disease Ontology:DOID:0060041); chromosome 22q11.2 deletion syndrome, distal (Disease Ontology:DOID:0060413); sensorineural hearing loss (Disease Ontology:DOID:10003); otitis media (Disease Ontology:DOID:10754); DiGeorge syndrome (Disease Ontology:DOID:11198); hypoparathyroidism (Disease Ontology:DOID:11199); velocardiofacial syndrome (Disease Ontology:DOID:12583); ventricular septal defect (Disease Ontology:DOID:1657); congenital heart disease (Disease Ontology:DOID:1682); epilepsy (Disease Ontology:DOID:1826); acute kidney failure (Disease Ontology:DOID:3021); double outlet right ventricle (Disease Ontology:DOID:6406); tetralogy of Fallot (Disease Ontology:DOID:6419); acute myocardial infarction (Disease Ontology:DOID:9408)", "pathway": " (hsa:6899); (R-HSA-9733709)", "pathway_count": 2, "publication_count": 27, "publication_id_list": "11111039;11237011;14585638;15095414;16959974;17273972;18477386;19479054;19948535;22095455;25187301;25576301;26783251;26992070;29393594;29636455;33054971;33912179;33968037;34171305;35051231;37227215;37852970;38203204;38608674;38905172;9268629", "class_list": "", "function": "A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens., [RefSeq, PubMed]; Brachyury positively regulates extracellular matrix synthesis via directly promoting aggrecan transcription in nucleus pulposus., [RefSeq, PubMed]; Conserved enhancers control notochord expression of vertebrate Brachyury. Publication Status: Online-Only, [RefSeq, PubMed]; Establishment of the Myeloid TBX-Code Reveals Aberrant Expression of T-Box Gene TBX1 in Chronic Myeloid Leukemia. Publication Status: Online-Only, [RefSeq, PubMed]; In-silico identification of deleterious non-synonymous SNPs of TBX1 gene: Functional and structural impact towards 22q11.2DS. Publication Status: Online-Only, [RefSeq, PubMed]; This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene product shares 98% amino acid sequence identity with the mouse ortholog. DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS), a common congenital disorder characterized by neural-crest-related developmental defects, has been associated with deletions of chromosome 22q11.2, where this gene has been mapped. Studies using mouse models of DiGeorge syndrome suggest a major role for this gene in the molecular etiology of DGS/VCFS. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]., [RefSeq]; Transcription factor that plays a key role in cardiovascular development by promoting pharyngeal arch segmentation during embryonic development (By similarity). Also involved in craniofacial muscle development (By similarity). Together with NKX2-5, acts as a regulator of asymmetric cardiac morphogenesis by promoting expression of PITX2 (By similarity). Acts upstream of TBX1 for the formation of the thymus and parathyroid glands from the third pharyngeal pouch (By similarity). Required for hair follicle stem cell self-renewal (By similarity). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence (PubMed:11111039, PubMed:22095455)., [UniProtKB, PubMed, UniProtKB, PubMed]", "predicted_glycosites": 1, "predicted_n_glycosites": 0, "predicted_o_glycosites": 1, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 3, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 14, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "C6G493;C6G494;O43436;Q96RJ2", "ec_number_list": [], "go_molecular_function": "GO:0003677 DNA binding;GO:0042803 protein homodimerization activity;GO:0046983 protein dimerization 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:0000785 chromatin", "go_biological_process": "GO:0030878 thyroid gland development;GO:0001708 cell fate specification;GO:0048752 semicircular canal morphogenesis;GO:2001054 negative regulation of mesenchymal cell apoptotic process;GO:0060017 parathyroid gland development", "synthesized_glycan_count": 0, "hit_score": 2.8, "record_id": "O43435-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000001000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59533-1", "uniprot_id": [ { "id": "T2R38_HUMAN", "url": "https://www.uniprot.org/uniprot/P59533", "type": "external" } ], "mass": 37892.0, "length": 333, "protein_name": "Taste receptor type 2 member 38", "gene_name": "TAS2R38", "organism": "Human", "refseq_name": "taste receptor type 2 member 38", "refseq_ac": [ { "id": "NP_789787", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_789787", "type": "external" } ], "gene_names_uniprotkb": "TAS2R38; PTC", "gene_names_refseq": "PTC; T2R38; T2R61; TAS2R38; THIOT", "protein_names_uniprotkb": "Taste receptor type 2 member 38; PTC bitter taste receptor; T2R38; T2R61; Taste receptor type 2 member 61", "protein_names_refseq": "PTC bitter taste receptor; taste receptor type 2 member 38; taste receptor type 2 member 61; taste receptor, type 2, member 38", "tax_id": 9606, "disease": "obsolete thiourea tasting (MONDO:MONDO:0044248)", "pathway": " (hsa:5726); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 82, "publication_id_list": "10761935;11007482;11208605;11696554;11917125;12015988;12120503;12139982;12379855;12581520;12584440;12595690;1325650;1329206;14634208;15194188;15353592;15385606;15496549;15576628;15738140;15951850;16634148;16720576;16923326;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23632330;23674604;24157691;24214976;24235081;24360415;24633359;2534964;25853419;26377607;27071541;2748346;28256214;2834384;29466837;29614098;29659026;29744740;30013099;30563861;38687739;38732607;38905855;39181709;39201321;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Association of the bitter taste genes TAS2R38 and CA6 and breast cancer risk; a case-control study of Polish women in Poland and Polish immigrants in USA. Publication Status: Online-Only, [RefSeq, PubMed]; Differential Activation of TAS2R4 May Recover Ability to Taste Propylthiouracil for Some TAS2R38 AVI Homozygotes. Publication Status: Online-Only, [RefSeq, PubMed]; Impact of TAS2R38 polymorphisms on nasal nitric oxide and Pseudomonas infections in primary ciliary dyskinesia: relation to genotype. Publication Status: Online-Only, [RefSeq, PubMed]; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity)., [UniProtKB]; TAS2R38 Genotype Does Not Affect SARS-CoV-2 Infection in Primary Ciliary Dyskinesia. Publication Status: Online-Only, [RefSeq, PubMed]; TAS2R38 bitterness receptor genetic variation is associated with diet quality in Koreans., [RefSeq, PubMed]; This gene encodes a seven-transmembrane G protein-coupled receptor that controls the ability to taste glucosinolates, a family of bitter-tasting compounds found in plants of the Brassica sp. Synthetic compounds phenylthiocarbamide (PTC) and 6-n-propylthiouracil (PROP) have been identified as ligands for this receptor and have been used to test the genetic diversity of this gene. Although several allelic forms of this gene have been identified worldwide, there are two predominant common forms (taster and non-taster) found outside of Africa. These alleles differ at three nucleotide positions resulting in amino acid changes in the protein (A49P, A262V, and V296I) with the amino acid combination PAV identifying the taster variant (and AVI identifying the non-taster variant). [provided by RefSeq, Oct 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": 0, "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": 2, "binding_glycan_count": 0, "secondary_ac_list": "A4D1U6;P59552;Q2M3E8;Q645W3;Q86UK3", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P59533-1", "record_type": "protein", "filter_code": "0000000.1000111.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59535-1", "uniprot_id": [ { "id": "T2R40_HUMAN", "url": "https://www.uniprot.org/uniprot/P59535", "type": "external" } ], "mass": 36812.0, "length": 323, "protein_name": "Taste receptor type 2 member 40", "gene_name": "TAS2R40", "organism": "Human", "refseq_name": "taste receptor type 2 member 40", "refseq_ac": [ { "id": "NP_795363", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_795363", "type": "external" } ], "gene_names_uniprotkb": "TAS2R40; GPR60", "gene_names_refseq": "GPR60; T2R40; T2R58; TAS2R40", "protein_names_uniprotkb": "Taste receptor type 2 member 40; G protein-coupled receptor 60; T2R40; T2R58; Taste receptor type 2 member 58", "protein_names_refseq": "G-protein coupled receptor 60; taste receptor type 2 member 40; taste receptor type 2 member 58; taste receptor, type 2, member 40", "tax_id": 9606, "disease": "", "pathway": " (hsa:259286); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 79, "publication_id_list": "10761935;11007482;11208605;11696554;11917125;12015988;12120503;12139982;12379855;12581520;1325650;1329206;14634208;15194188;15353592;15385606;15496549;15576628;15738140;15951850;16634148;16923326;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21422378;21795555;23121374;23632330;23674604;24157691;24214976;24235081;24360415;24633359;24715725;2534964;25853419;26377607;27071541;2748346;28256214;2834384;29393594;29466837;29614098;29659026;29744740;30013099;30563861;30784271;32387766;35051231;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Gustducin-coupled receptor implicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5., [UniProtKB]; This gene encodes a member of the bitter taste receptor family which belong to the G protein-coupled receptor superfamily and are predominantly expressed in taste receptor cells of the tongue and palate epithelia. This intronless taste receptor gene encodes a seven-transmembrane receptor protein, functioning as a bitter taste receptor. This gene is clustered together with eight other taste receptor genes on chromosome 7. A decrease in the expression of this gene is associated with hypogeusia. [provided by RefSeq, Jul 2017]., [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": 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": "A4D2I2;Q645W6", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 8.0, "record_id": "P59535-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010001.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59539-1", "uniprot_id": [ { "id": "T2R45_HUMAN", "url": "https://www.uniprot.org/uniprot/P59539", "type": "external" } ], "mass": 34278.0, "length": 299, "protein_name": "Taste receptor type 2 member 45", "gene_name": "TAS2R45", "organism": "Human", "refseq_name": "", "refseq_ac": [], "gene_names_uniprotkb": "TAS2R45; GPR59", "gene_names_refseq": "", "protein_names_uniprotkb": "Taste receptor type 2 member 45; G protein-coupled receptor 59; T2R45", "protein_names_refseq": "", "tax_id": 9606, "disease": "", "pathway": " (R-HSA-418594); (R-HSA-420499)", "pathway_count": 2, "publication_count": 44, "publication_id_list": "11007482;11208605;11696554;11917125;12120503;12139982;12379855;12581520;1329206;15194188;15576628;15951850;16634148;16923326;18434541;18577758;20022913;20555319;21148030;23121374;23674604;24235081;2534964;26154972;27071541;2748346;2834384;29614098;7476890;7617140;7620613;7623957;7759551;7908515;7937899;8015379;8406495;8887960;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity)., [UniProtKB]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 0, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0050909 sensory perception of taste", "synthesized_glycan_count": 0, "hit_score": 4.5, "record_id": "P59539-1", "record_type": "protein", "filter_code": "0000000.0000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true }, { "uniprot_canonical_ac": "P59544-1", "uniprot_id": [ { "id": "T2R50_HUMAN", "url": "https://www.uniprot.org/uniprot/P59544", "type": "external" } ], "mass": 34558.0, "length": 299, "protein_name": "Taste receptor type 2 member 50", "gene_name": "TAS2R50", "organism": "Human", "refseq_name": "taste receptor type 2 member 50", "refseq_ac": [ { "id": "NP_795371", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_795371", "type": "external" } ], "gene_names_uniprotkb": "TAS2R50", "gene_names_refseq": "T2R50; T2R51; TAS2R50; TAS2R51", "protein_names_uniprotkb": "Taste receptor type 2 member 50; T2R50; T2R51; Taste receptor type 2 member 51", "protein_names_refseq": "taste receptor type 2 member 50; taste receptor type 2 member 51; taste receptor, type 2, member 50", "tax_id": 9606, "disease": "", "pathway": " (hsa:259296); (R-HSA-418594); (R-HSA-420499); (R-HSA-9717207)", "pathway_count": 4, "publication_count": 82, "publication_id_list": "10761935;11007482;11208605;11696554;11917125;12015988;12120503;12139982;12379855;12581520;12584440;1325650;1329206;14634208;15194188;15353592;15385606;15496549;15576628;15738140;15951850;16634148;16923326;17167479;17506496;18434541;18577758;19104071;19696921;20022913;20033988;20555319;21148030;21422378;21795555;22192511;23121374;23632330;23674604;24157691;24214976;24235081;24360415;24633359;2534964;25418920;25853419;26377607;26552660;27071541;2748346;28256214;2834384;28366770;29466837;29614098;29659026;29744740;30013099;30563861;32227702;33433247;33461297;7476890;7617140;7620613;7623957;7720699;7759551;7908515;7937899;8015379;8288584;8406495;8887960;9065781;9131252;9144337;9144651;9473604;9844003;9872316", "class_list": "", "function": "Assessment of KIF6 genotype is not useful in predicting low density lipoprotein cholesterol lowering response to pravastatin, and heart disease risk reduction in the elderly., [RefSeq, PubMed]; Bitter Sensing TAS2R50 Mediates the trans-Resveratrol-Induced Anti-inflammatory Effect on Interleukin 6 Release in HGF-1 Cells in Culture., [RefSeq, PubMed]; Bitter Taste Receptors and Chronic Otitis Media., [RefSeq, PubMed]; Genetic association studies in populations in Northern Europe, Maghreb, and Sri Lanka: Data suggest that SNPs in TAS2R50 (rs1376251), TRPM5 (rs800345), and TAS2R16 (rs860170) are associated with cultural food preferences; TAS2R16 (rs860170) strongly differentiates populations and is associated to salicin bitterness perception. (TRPM5 = transient receptor potential cation channel subfamily M member 5), [RefSeq, PubMed]; Polymorphism of TAS2R3, TAS2R5, TAS2R19, and TAS2R50 genes and bitter food intake frequency inelderly woman., [RefSeq, PubMed]; Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity)., [UniProtKB]; TAS2R50 belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway (Conte et al., 2002 [PubMed 12584440]). See also TAS2R10 (MIM 604791).[supplied by OMIM, Mar 2008]., [RefSeq]", "predicted_glycosites": 1, "predicted_n_glycosites": 1, "predicted_o_glycosites": 0, "predicted_c_glycosites": 0, "predicted_s_glycosites": 0, "mined_glycosites": 0, "mined_n_glycosites": 0, "mined_o_glycosites": 0, "mined_c_glycosites": 0, "mined_s_glycosites": 0, "reported_n_glycosites": 0, "reported_o_glycosites": 0, "reported_c_glycosites": 0, "reported_s_glycosites": 0, "reported_n_glycosites_with_glycan": 0, "reported_o_glycosites_with_glycan": 0, "reported_c_glycosites_with_glycan": 0, "reported_s_glycosites_with_glycan": 0, "total_reported_n_glycosites": 0, "total_reported_o_glycosites": 0, "total_reported_c_glycosites": 0, "total_reported_s_glycosites": 0, "total_n_glycosites": 0, "total_o_glycosites": 0, "total_c_glycosites": 0, "total_s_glycosites": 0, "reported_fully_resolved_glycans": 0, "reported_phosphosites": 0, "reported_mutagensis": 0, "reported_glycation": 0, "reported_snv": 11, "reported_interactions": 0, "missing_score": 10000, "biomarker_type": "", "glycan_count": 0, "disease_count": 0, "glyco_site_count": 1, "binding_glycan_count": 0, "secondary_ac_list": "P59545;Q2M255;Q645Y0", "ec_number_list": [], "go_molecular_function": "GO:0004930 G protein-coupled receptor activity;GO:0033038 bitter taste receptor activity", "go_cellular_component": "GO:0005886 plasma membrane;GO:0016020 membrane", "go_biological_process": "GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste", "synthesized_glycan_count": 0, "hit_score": 8.3, "record_id": "P59544-1", "record_type": "protein", "filter_code": "0000000.1000101.100000.000000000001000000.0000000010000.001.00000", "kg_view_protein": true } ]