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"database": "UniProtKB", "id": "Q811G0", "url": "https://www.uniprot.org/uniprotkb/Q811G0" } ], "pmid": "" }, { "name": "sperm principal piece", "id": "GO:0097228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097228", "evidence": [ { "database": "UniProtKB", "id": "Q811G0", "url": "https://www.uniprot.org/uniprotkb/Q811G0" } ], "pmid": "" }, { "name": "ciliary membrane", "id": "GO:0060170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060170", "evidence": [ { "database": "UniProtKB", "id": "Q811G0", "url": "https://www.uniprot.org/uniprotkb/Q811G0" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "Q811G0", "url": "https://www.uniprot.org/uniprotkb/Q811G0" } ], "pmid": "" }, { "name": "BBSome", "id": "GO:0034464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034464", "evidence": [ { "database": "UniProtKB", "id": "Q811G0", "url": 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"GO:0006457", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006457", "evidence": [ { "database": "UniProtKB", "id": "Q9D9A7", "url": "https://www.uniprot.org/uniprotkb/Q9D9A7" } ], "pmid": "" }, { "name": "chaperone-mediated protein complex assembly", "id": "GO:0051131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051131", "evidence": [ { "database": "UniProtKB", "id": "Q9D9A7", "url": "https://www.uniprot.org/uniprotkb/Q9D9A7" } ], "pmid": "" }, { "name": "prostaglandin biosynthetic process", "id": "GO:0001516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001516", "evidence": [ { "database": "UniProtKB", "id": "Q9D9A7", "url": "https://www.uniprot.org/uniprotkb/Q9D9A7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D9A7-1" }, { "uniprot_canonical_ac": "Q9JM51-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9JM51", "url": "https://www.uniprot.org/uniprotkb/Q9JM51" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 153, "chemical_mass": 17286.0, "gene_names": "Ptges;2410099E23Rik;D2Ertd369e;Pges;Ptges;mPGES-1;mPGES", "protein_name": "Prostaglandin E synthase", "disease": [ { "disease_id": "DOID:0060074", "name": "ductal carcinoma in situ", "description": "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:0060074", "evidence": [ { "id": "0060074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060074" } ], "weight": 0.0 }, { "disease_id": "DOID:11624", "name": "penile benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:11624", "evidence": [ { "id": "11624", "database": "AGR", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of cell-matrix adhesion", "id": "GO:0001953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001953", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of plasminogen activation", "id": "GO:0010757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010757", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of fibrinolysis", "id": "GO:0051918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051918", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta production", "id": "GO:0071636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071636", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell proliferation", "id": "GO:0001937", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001937", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of cell-substrate adhesion", "id": "GO:0010811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010811", 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}, { "name": "positive regulation of phosphorylation", "id": "GO:0042327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042327", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of blood vessel endothelial cell migration", "id": "GO:0043536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": 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}, { "name": "response to magnesium ion", "id": "GO:0032026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032026", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "monocyte aggregation", "id": "GO:0070487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070487", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "endocardial cushion development", "id": "GO:0003197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003197", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "blood coagulation, fibrin clot formation", "id": "GO:0072378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072378", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "growth plate cartilage development", "id": "GO:0003417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003417", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of dendritic cell antigen processing and presentation", "id": "GO:0002605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002605", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell chemotaxis", "id": "GO:2001027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001027", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of sprouting angiogenesis", "id": "GO:1903671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903671", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II", "id": "GO:0002581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002581", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of cGMP-mediated signaling", "id": "GO:0010754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010754", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "negative regulation of nitric oxide-cGMP mediated signal transduction", "id": "GO:0141151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141151", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" } ], "molecular_function": [ { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "integrin binding", "id": "GO:0005178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005178", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "laminin binding", "id": "GO:0043236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043236", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "endopeptidase inhibitor activity", "id": "GO:0004866", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004866", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "transforming growth factor beta binding", "id": "GO:0050431", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050431", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "extracellular matrix binding", "id": "GO:0050840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050840", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "phosphatidylserine binding", "id": "GO:0001786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001786", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "fibronectin binding", "id": "GO:0001968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001968", "evidence": [ { "database": "UniProtKB", "id": "P35441", "url": "https://www.uniprot.org/uniprotkb/P35441" } ], "pmid": "" }, { "name": "fibroblast growth factor binding", "id": "GO:0017134", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "Q02844", "url": "https://www.uniprot.org/uniprotkb/Q02844" } ], "pmid": "" }, { "name": "negative regulation of blood coagulation", "id": "GO:0030195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030195", "evidence": [ { "database": "UniProtKB", "id": "Q02844", "url": "https://www.uniprot.org/uniprotkb/Q02844" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q02844-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Asn130", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 130, "start_aa": "Asn", "end_pos": 130, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn130", 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"https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "R-loop processing", "id": "GO:0062176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062176", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "PML body", "id": "GO:0016605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016605", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q9R207", "url": "https://www.uniprot.org/uniprotkb/Q9R207" } ], "pmid": "" }, { "name": "replication fork", "id": "GO:0005657", "url": 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No effect on interaction with ODF2.", "evidence": [ { "database": "UniProtKB", "id": "Q9D411", "url": "https://www.uniprot.org/uniprotkb/Q9D411" }, { "database": "PubMed", "id": "25361759", "url": "https://glygen.org/publication/PubMed/25361759" } ] } ] }, { "uniprot_canonical_ac": "Q9D411-1", "start_pos": "54", "end_pos": "54", "site_lbl": "Lys54", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Loss of kinase activity and no phosphorylation of ODF2. No effect on interaction with ODF2.", "evidence": [ { "database": "UniProtKB", "id": "Q9D411", "url": "https://www.uniprot.org/uniprotkb/Q9D411" }, { "database": "PubMed", "id": "26940607", "url": "https://glygen.org/publication/PubMed/26940607" }, { "database": "PubMed", "id": "25361759", "url": "https://glygen.org/publication/PubMed/25361759" } ] } ] } ], "record_id": "Q9D411-1" }, { "uniprot_canonical_ac": "Q9D5S1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 317, "chemical_mass": 35235.0, "gene_names": "Tex19.2;4921530G04Rik;Tex19.2;Tex19b", "protein_name": "Testis-expressed protein 19.2", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" }, { "name": "male meiotic nuclear division", "id": "GO:0007140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007140", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" }, { "name": "transposable element silencing", "id": "GO:0010526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010526", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" } ], "molecular_function": [ { "name": "piRNA binding", "id": "GO:0034584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034584", "evidence": [ { "database": "UniProtKB", "id": "Q9D5S1", "url": "https://www.uniprot.org/uniprotkb/Q9D5S1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9D5S1-1" }, { "uniprot_canonical_ac": "Q9D6K7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D6K7", "url": "https://www.uniprot.org/uniprotkb/Q9D6K7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 262, "chemical_mass": 29371.0, "gene_names": "Ttc33;2410099M07Rik;2900001O04Rik;Osrf;Ttc33", "protein_name": "Tetratricopeptide repeat protein 33", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D6K7-1", "start_pos": "197", "end_pos": "197", "site_lbl": "Ser197", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9D6K7", "url": "https://www.uniprot.org/uniprotkb/Q9D6K7" } ] } ] } ], "record_id": "Q9D6K7-1" }, { "uniprot_canonical_ac": "Q9D735-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9D735", "url": "https://www.uniprot.org/uniprotkb/Q9D735" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 173, "chemical_mass": 18377.0, "gene_names": "Trir;1110002H14Rik;2310036O22Rik;Trir", "protein_name": "Telomerase RNA component-interacting RNase", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9D735", "url": "https://www.uniprot.org/uniprotkb/Q9D735" } ], "pmid": "" }, { "name": "3'-5' exonuclease activity", "id": "GO:0008408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008408", "evidence": [ { "database": "UniProtKB", "id": "Q9D735", "url": "https://www.uniprot.org/uniprotkb/Q9D735" } ], "pmid": "" }, { "name": "5'-3' exonuclease activity", "id": "GO:0008409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008409", "evidence": [ { "database": "UniProtKB", "id": "Q9D735", "url": "https://www.uniprot.org/uniprotkb/Q9D735" } ], "pmid": "" } ], "biological_process": [ { "name": "rRNA catabolic process", "id": "GO:0016075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016075", "evidence": [ { "database": "UniProtKB", "id": "Q9D735", "url": "https://www.uniprot.org/uniprotkb/Q9D735" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D735-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Thr109", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 109, "start_aa": "Thr", "end_pos": 109, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr109", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q9D735-1" }, { "uniprot_canonical_ac": "Q9DA17-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DA17", "url": "https://www.uniprot.org/uniprotkb/Q9DA17" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 273, "chemical_mass": 32067.0, "gene_names": "Tsga13;1700023D02Rik;Tsga13;Vme1", "protein_name": "Testis-specific gene 13 protein", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9DA17-1" }, { "uniprot_canonical_ac": "Q9DC60-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 336, "chemical_mass": 36684.0, "gene_names": "Ubiad1;1200002M06Rik;Tere1;Ubiad1", "protein_name": "UbiA prenyltransferase domain-containing protein 1", "disease": [ { "disease_id": "DOID:0060058", "name": "lymphoma", "description": "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.", "url": "https://disease-ontology.org/term/DOID:0060058", "evidence": [ { "id": "0060058", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060058" } ], "weight": 0.0 }, { "disease_id": "DOID:0060456", "name": "Schnyder corneal dystrophy", "description": "A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0060456", "evidence": [ { "id": "0060456", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060456" } ], "weight": 0.0 } ], "biological_process": [ { "name": "circulatory system development", "id": "GO:0072359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072359", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "ubiquinone biosynthetic process", "id": "GO:0006744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006744", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "menaquinone biosynthetic process", "id": "GO:0009234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009234", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "vitamin K biosynthetic process", "id": "GO:0042371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042371", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "endothelial cell development", "id": "GO:0001885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001885", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" } ], "molecular_function": [ { "name": "antioxidant activity", "id": "GO:0016209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016209", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "prenyltransferase activity", "id": "GO:0004659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004659", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "4-hydroxybenzoate polyprenyltransferase activity", "id": "GO:0008412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008412", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" }, { "name": "menadiol geranylgeranyltransferase activity", "id": "GO:0120566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120566", "evidence": [ { "database": "UniProtKB", "id": "Q9DC60", "url": "https://www.uniprot.org/uniprotkb/Q9DC60" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q9DC60-1" }, { "uniprot_canonical_ac": "Q9EP53-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1161, "chemical_mass": 128746.0, "gene_names": "Tsc1;Kiaa0243;Tsc1", "protein_name": "Hamartin", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060564", "name": "spinal disease", "description": "A bone disease that is located_in the spine.", "url": "https://disease-ontology.org/term/DOID:0060564", "evidence": [ { "id": "0060564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060564" } ], "weight": 0.0 }, { "disease_id": "DOID:0060648", "name": "anterior segment dysgenesis", "description": "An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye.", "url": "https://disease-ontology.org/term/DOID:0060648", "evidence": [ { "id": "0060648", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060648" } ], "weight": 0.0 }, { "disease_id": "DOID:0080324", "name": "tuberous sclerosis 1", "description": "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34.", "url": "https://disease-ontology.org/term/DOID:0080324", "evidence": [ { "id": "0080324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080324" } ], "weight": 0.0 }, { "disease_id": "DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:13515", "name": "tuberous sclerosis", "description": "A hamartoma syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.", "url": "https://disease-ontology.org/term/DOID:13515", "evidence": [ { "id": "13515", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13515" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:3319", "name": "lymphangioleiomyomatosis", "description": "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas.", "url": "https://disease-ontology.org/term/DOID:3319", "evidence": [ { "id": "3319", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3319" } ], "weight": 0.0 }, { "disease_id": "DOID:4852", "name": "pleomorphic xanthoastrocytoma", "description": "A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies.", "url": "https://disease-ontology.org/term/DOID:4852", "evidence": [ { "id": "4852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4852" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "pmid": "" }, { "name": "regulation of focal adhesion assembly", "id": "GO:0051893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051893", "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "pmid": "" }, { "name": "cellular response to decreased oxygen levels", "id": "GO:0036294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036294", "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "pmid": "" }, { "name": "associative learning", "id": "GO:0008306", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008306", "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "pmid": "" }, { "name": "adult locomotory behavior", "id": "GO:0008344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008344", "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "pmid": "" }, { "name": "synapse organization", "id": "GO:0050808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050808", "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q9EP53", "url": "https://www.uniprot.org/uniprotkb/Q9EP53" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": 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"P40338", "url": "https://www.uniprot.org/uniprotkb/P40338" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "P40338", "url": "https://www.uniprot.org/uniprotkb/P40338" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell differentiation", "id": "GO:0045602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045602", "evidence": [ { "database": "UniProtKB", "id": "P40338", "url": "https://www.uniprot.org/uniprotkb/P40338" } ], "pmid": "" }, { "name": "blood vessel endothelial cell migration", "id": "GO:0043534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043534", "evidence": [ { "database": "UniProtKB", "id": "P40338", "url": "https://www.uniprot.org/uniprotkb/P40338" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { 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transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "P40338", "url": "https://www.uniprot.org/uniprotkb/P40338" } ], "pmid": "" }, { "name": "protein serine/threonine kinase binding", "id": "GO:0120283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120283", "evidence": [ { "database": "UniProtKB", "id": "P40338", "url": "https://www.uniprot.org/uniprotkb/P40338" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P40338-1" }, { "uniprot_canonical_ac": "Q91W78-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91W78", "url": "https://www.uniprot.org/uniprotkb/Q91W78" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 267, "chemical_mass": 30250.0, "gene_names": "Usb1;AA960436;USB1;Usb1", "protein_name": "U6 snRNA phosphodiesterase 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progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3963", "name": "thyroid gland carcinoma", "description": "A thyroid gland cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3963", "evidence": [ { "id": "3963", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3963" } ], "weight": 0.0 }, { "disease_id": "DOID:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:585", "name": "nephrolithiasis", "description": "A kidney disease characterized by the formation of stoney concentrations in the kidneys.", "url": "https://disease-ontology.org/term/DOID:585", "evidence": [ { "id": "585", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:585" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of glial cell proliferation", "id": "GO:0060252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060252", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "hyaloid vascular plexus regression", "id": "GO:1990384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990384", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "regulation of smooth muscle contraction", "id": "GO:0006940", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006940", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "positive regulation of MAP kinase activity", "id": "GO:0043406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043406", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "embryonic morphogenesis", "id": "GO:0048598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048598", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor signaling pathway", "id": "GO:0048010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048010", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "sprouting angiogenesis", "id": "GO:0002040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002040", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "intracellular receptor signaling pathway", "id": "GO:0030522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030522", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "cellular response to vascular endothelial growth factor stimulus", "id": "GO:0035924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035924", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "monocyte chemotaxis", "id": "GO:0002548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002548", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "post-embryonic camera-type eye morphogenesis", "id": "GO:0048597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048597", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "positive regulation of hematopoietic progenitor cell differentiation", "id": "GO:1901534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901534", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "vascular endothelial growth factor receptor-1 signaling pathway", "id": "GO:0036323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036323", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "negative regulation of vascular endothelial growth factor production", "id": "GO:1904046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904046", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "negative regulation of vascular endothelial cell proliferation", "id": "GO:1905563", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905563", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "negative regulation of sprouting angiogenesis", "id": "GO:1903671", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903671", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "growth factor binding", "id": "GO:0019838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019838", "evidence": [ { "database": "UniProtKB", "id": "P35969", "url": "https://www.uniprot.org/uniprotkb/P35969" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": 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Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems.", "url": "https://disease-ontology.org/term/DOID:11650", "evidence": [ { "id": "11650", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11650" } ], "weight": 0.0 }, { "disease_id": "DOID:2797", "name": "idiopathic interstitial pneumonia", "description": "A pneumonia located_in the lung parenchyma of unknown cause.", "url": "https://disease-ontology.org/term/DOID:2797", "evidence": [ { "id": "2797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2797" } ], "weight": 0.0 }, { "disease_id": "DOID:2799", "name": "bronchiolitis obliterans", "description": "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.", "url": "https://disease-ontology.org/term/DOID:2799", "evidence": [ { "id": "2799", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2799" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID:3770", "name": "pulmonary fibrosis", "description": "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes.", "url": "https://disease-ontology.org/term/DOID:3770", "evidence": [ { "id": "3770", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3770" } ], "weight": 0.0 }, { "disease_id": "DOID:9498", "name": "pulmonary eosinophilia", "description": "A hypereosinophilic syndrome characterized by the accumulation of eosinophils in the lungs.", "url": "https://disease-ontology.org/term/DOID:9498", "evidence": [ { "id": "9498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9498" } ], "weight": 0.0 } ], "biological_process": [ { "name": "response to silicon dioxide", "id": "GO:0034021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034021", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "negative regulation of interleukin-5 production", "id": "GO:0032714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032714", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "negative regulation of type II interferon production", "id": "GO:0032689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032689", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "regulation of mRNA stability", "id": "GO:0043488", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043488", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "response to glucocorticoid", "id": "GO:0051384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051384", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "response to cytokine", "id": "GO:0034097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034097", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "response to ozone", "id": "GO:0010193", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010193", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "response to fibroblast growth factor", "id": "GO:0071774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071774", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "negative regulation of interleukin-4 production", "id": "GO:0032713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032713", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "negative regulation of interleukin-13 production", "id": "GO:0032696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032696", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "secretory granule", "id": "GO:0030141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030141", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" } ], "molecular_function": [ { "name": "phospholipase A2 inhibitor activity", "id": "GO:0019834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019834", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" }, { "name": "polychlorinated biphenyl binding", "id": "GO:0097160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097160", "evidence": [ { "database": "UniProtKB", "id": "Q06318", "url": "https://www.uniprot.org/uniprotkb/Q06318" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q06318-1" }, { "uniprot_canonical_ac": "Q2NKI2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 338, "chemical_mass": 35167.0, "gene_names": "Vax1;Vax1", "protein_name": "Ventral anterior homeobox 1", "disease": [ { "disease_id": "DOID:0111804", "name": "syndromic microphthalmia 11", "description": "A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3.", "url": "https://disease-ontology.org/term/DOID:0111804", "evidence": [ { "id": "0111804", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111804" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "neuron migration", "id": "GO:0001764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001764", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "skeletal muscle cell differentiation", "id": "GO:0035914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035914", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "negative regulation of neuroblast proliferation", "id": "GO:0007406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007406", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding", "id": "GO:0001162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001162", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q2NKI2", "url": "https://www.uniprot.org/uniprotkb/Q2NKI2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q2NKI2-1" }, { "uniprot_canonical_ac": "Q2QI47-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprotkb/Q2QI47" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 5193, "chemical_mass": 569660.0, "gene_names": "Ush2A;Ush2a;A930011D15Rik;A930037M10Rik;Gm676;Gm983;Mush2a;Ush2a;Ushrn", "protein_name": "Usherin", "disease": [ { "disease_id": "DOID:0050439", "name": "Usher syndrome", "description": "A syndrome characterized by a combination of hearing loss and visual impairment.", "url": "https://disease-ontology.org/term/DOID:0050439", "evidence": [ { "id": "0050439", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050439" } ], "weight": 0.0 }, { "disease_id": "DOID:0050563", "name": "nonsyndromic deafness", "description": "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:0050563", "evidence": [ { "id": "0050563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050563" } ], "weight": 0.0 }, { "disease_id": "DOID:0110360", "name": "retinitis pigmentosa 39", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41.", "url": "https://disease-ontology.org/term/DOID:0110360", "evidence": [ { "id": "0110360", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110360" } ], "weight": 0.0 }, { "disease_id": "DOID:0110827", "name": "Usher syndrome type 2", "description": "An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa.", "url": 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differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q505H4", "url": "https://www.uniprot.org/uniprotkb/Q505H4" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "Q505H4", "url": "https://www.uniprot.org/uniprotkb/Q505H4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q505H4-1" }, { "uniprot_canonical_ac": "Q5DQQ6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5DQQ6", "url": "https://www.uniprot.org/uniprotkb/Q5DQQ6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 81, "chemical_mass": 8798.0, "gene_names": "Wfdc13;Wfdc13l1;Wfdc13", "protein_name": "WAP four-disulfide core domain protein 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"glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 283, "chemical_mass": 30753.0, "gene_names": "Vdac3;Vdac3", "protein_name": "Non-selective voltage-gated ion channel VDAC3", "disease": [ { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:8466", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina.", "url": "https://disease-ontology.org/term/DOID:8466", "evidence": [ { "id": "8466", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8466" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q60931", "url": "https://www.uniprot.org/uniprotkb/Q60931" } ], "pmid": "" }, { "name": "voltage-gated monoatomic ion channel activity", "id": "GO:0005244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005244", "evidence": [ { "database": "UniProtKB", "id": "Q60931", "url": "https://www.uniprot.org/uniprotkb/Q60931" } ], "pmid": "" }, { "name": "porin activity", "id": "GO:0015288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015288", "evidence": [ { "database": "UniProtKB", "id": "Q60931", "url": "https://www.uniprot.org/uniprotkb/Q60931" } ], "pmid": "" }, { "name": "voltage-gated monoatomic anion channel activity", "id": "GO:0008308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008308", "evidence": [ { "database": "UniProtKB", "id": "Q60931", "url": 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"" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q7M760", "url": "https://www.uniprot.org/uniprotkb/Q7M760" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q7M760", "url": "https://www.uniprot.org/uniprotkb/Q7M760" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q7M760", "url": "https://www.uniprot.org/uniprotkb/Q7M760" } ], "pmid": "" }, { "name": "regulation of cell morphogenesis", "id": "GO:0022604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022604", "evidence": [ { "database": "UniProtKB", "id": "Q7M760", "url": "https://www.uniprot.org/uniprotkb/Q7M760" } ], "pmid": "" 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"https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "A2ANX9", "url": "https://www.uniprot.org/uniprotkb/A2ANX9" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "A2ANX9", "url": "https://www.uniprot.org/uniprotkb/A2ANX9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "A2ANX9", "url": "https://www.uniprot.org/uniprotkb/A2ANX9" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "A2ANX9", "url": "https://www.uniprot.org/uniprotkb/A2ANX9" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "A2ANX9", "url": "https://www.uniprot.org/uniprotkb/A2ANX9" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "A2ANX9", "url": "https://www.uniprot.org/uniprotkb/A2ANX9" } ], "pmid": "" }, { "name": "germ cell development", "id": "GO:0007281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007281", "evidence": [ { "database": "UniProtKB", "id": "A2ANX9", "url": "https://www.uniprot.org/uniprotkb/A2ANX9" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "A2ANX9", "url": "https://www.uniprot.org/uniprotkb/A2ANX9" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "A2ANX9", "url": "https://www.uniprot.org/uniprotkb/A2ANX9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A2ANX9-1" }, { "uniprot_canonical_ac": "Q99LH4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 468, "chemical_mass": 52154.0, "gene_names": "Zfp672;Znf672;4930488P06Rik;4930511N19Rik;Zfp672;Znf672", "protein_name": "Zinc finger protein 672", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q99LH4", "url": "https://www.uniprot.org/uniprotkb/Q99LH4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q99LH4-1" }, { "uniprot_canonical_ac": "B1AX39-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 541, "chemical_mass": 63000.0, "gene_names": "Zcchc7;4930572I07Rik;D4Wsu132e;Zcchc7", "protein_name": "Zinc finger CCHC domain-containing protein 7", "disease": [], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "TRAMP complex", "id": "GO:0031499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031499", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" } ], "biological_process": [ { "name": "nuclear polyadenylation-dependent rRNA catabolic process", "id": "GO:0071035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071035", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "TRAMP-dependent tRNA surveillance pathway", "id": "GO:0071038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071038", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "nuclear polyadenylation-dependent snoRNA catabolic process", "id": "GO:0071036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071036", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "nuclear polyadenylation-dependent snRNA catabolic process", "id": "GO:0071037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071037", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "nuclear polyadenylation-dependent CUT catabolic process", "id": "GO:0071039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071039", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" }, { "name": "nuclear mRNA surveillance of mRNA 3'-end processing", "id": "GO:0071031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071031", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "B1AX39-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Ser477", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "B1AX39", "url": "https://www.uniprot.org/uniprotkb/B1AX39" } ] } ] } ], "record_id": "B1AX39-1" }, { "uniprot_canonical_ac": "Q8K2R5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 619, "chemical_mass": 68347.0, "gene_names": "Zfp668;Znf668;E130018B19Rik;Zfp668;Znf668", "protein_name": "Zinc finger protein 668", "disease": [], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8K2R5-1", "start_pos": "10", "end_pos": "10", "site_lbl": "Ser10", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ] } ] }, { "uniprot_canonical_ac": "Q8K2R5-1", "start_pos": "387", "end_pos": "387", "site_lbl": "Ser387", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q8K2R5", "url": "https://www.uniprot.org/uniprotkb/Q8K2R5" } ] } ] } ], "record_id": "Q8K2R5-1" }, { "uniprot_canonical_ac": "Q0P5X5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q0P5X5", "url": "https://www.uniprot.org/uniprotkb/Q0P5X5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 716, "chemical_mass": 80339.0, "gene_names": "Zbbx;4931432L23;Zbbx", "protein_name": "Zinc finger B-box domain-containing protein 1", "disease": [], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q0P5X5", "url": "https://www.uniprot.org/uniprotkb/Q0P5X5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q0P5X5-1" }, { "uniprot_canonical_ac": "Q9R0B7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 294, "chemical_mass": 32698.0, "gene_names": "Zfp346;Znf346;Jaz;Zfp346;Znf346", "protein_name": "Zinc finger protein 346", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" }, { "name": "double-stranded RNA binding", "id": "GO:0003725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003725", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" }, { "name": "miRNA binding", "id": "GO:0035198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035198", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9R0B7-1", "start_pos": "152", "end_pos": "152", "site_lbl": "His152", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No loss of dsRNA binding capacity. Loss of 40-60% dsRNA binding; when associated with A-203. Binding capacity was reduced to 5-10%; when associated with A-91 and A-203. Loss of binding capacity; when associated with A-91; A-203 and A-257.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" }, { "database": "PubMed", "id": "10488071", "url": "https://glygen.org/publication/PubMed/10488071" } ] } ] }, { "uniprot_canonical_ac": "Q9R0B7-1", "start_pos": "203", "end_pos": "203", "site_lbl": "His203", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No loss of dsRNA binding capacity. Binding capacity was reduced 40-60%; when associated with A-91. Binding capacity was reduced to 5-10%; when associated with A-91 and A-152. Loss of binding capacity; when associated with A-91; A-152 and A-257.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" }, { "database": "PubMed", "id": "10488071", "url": "https://glygen.org/publication/PubMed/10488071" } ] } ] }, { "uniprot_canonical_ac": "Q9R0B7-1", "start_pos": "257", "end_pos": "257", "site_lbl": "His257", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No loss of dsRNA binding capacity. Loss of 5-10 % dsRNA binding capacity; when associated with A-152 and A-203. Loss of binding capacity; when associated with A-91; A-152 and A-203.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" }, { "database": "PubMed", "id": "10488071", "url": "https://glygen.org/publication/PubMed/10488071" } ] } ] }, { "uniprot_canonical_ac": "Q9R0B7-1", "start_pos": "91", "end_pos": "91", "site_lbl": "His91", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No loss of dsRNA binding capacity. Binding capacity was reduced 40-60%; when associated with A-203. Binding capacity was reduced to 5-10%; when associated with A-152 and A-203. Loss of binding capacity; when associated with A-152; A-203 and A-257.", "evidence": [ { "database": "UniProtKB", "id": "Q9R0B7", "url": "https://www.uniprot.org/uniprotkb/Q9R0B7" }, { "database": "PubMed", "id": "10488071", "url": "https://glygen.org/publication/PubMed/10488071" } ] } ] } ], "record_id": "Q9R0B7-1" }, { "uniprot_canonical_ac": "Q80VM4-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q80VM4", "url": "https://www.uniprot.org/uniprotkb/Q80VM4" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 562, "chemical_mass": 60792.0, "gene_names": "Zfp579;Znf579;1110003A17Rik;Zfp579;Znf579", "protein_name": "Zinc finger protein 579", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q80VM4", "url": "https://www.uniprot.org/uniprotkb/Q80VM4" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q80VM4", "url": "https://www.uniprot.org/uniprotkb/Q80VM4" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q80VM4", "url": "https://www.uniprot.org/uniprotkb/Q80VM4" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q80VM4", "url": "https://www.uniprot.org/uniprotkb/Q80VM4" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q80VM4", "url": "https://www.uniprot.org/uniprotkb/Q80VM4" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q80VM4", "url": "https://www.uniprot.org/uniprotkb/Q80VM4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q80VM4-1", "start_pos": "371", "end_pos": "371", "site_lbl": "Thr371", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 371, "start_aa": "Thr", "end_pos": 371, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr371", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80VM4-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Thr50", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 50, "start_aa": "Thr", "end_pos": 50, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr50", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q80VM4-1", "start_pos": "516", "end_pos": "516", "site_lbl": "Thr516", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 516, "start_aa": "Thr", "end_pos": 516, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr516", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ], "snv": [ { "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->P).", "chr_id": "7", "chr_pos": "4996364", "evidence": [ { "id": "rs215061549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs215061549" } ] }, { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: o-glyco-site-loss (T->R).", "chr_id": "7", "chr_pos": "4996363", "evidence": [ { "id": "rs262459034", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs262459034" } ] } ] }, { "uniprot_canonical_ac": "Q80VM4-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Ser191", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VM4", "url": "https://www.uniprot.org/uniprotkb/Q80VM4" } ] } ] }, { "uniprot_canonical_ac": "Q80VM4-1", "start_pos": "486", "end_pos": "486", "site_lbl": "Ser486", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80VM4", "url": "https://www.uniprot.org/uniprotkb/Q80VM4" } ] } ] } ], "record_id": "Q80VM4-1" }, { "uniprot_canonical_ac": "Q8R1J3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8R1J3", "url": "https://www.uniprot.org/uniprotkb/Q8R1J3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 271, "chemical_mass": 30488.0, "gene_names": "Zcchc9;1810019C21Rik;Zcchc9", "protein_name": "Zinc finger CCHC domain-containing protein 9", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8R1J3", "url": "https://www.uniprot.org/uniprotkb/Q8R1J3" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q8R1J3", "url": "https://www.uniprot.org/uniprotkb/Q8R1J3" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8R1J3", "url": "https://www.uniprot.org/uniprotkb/Q8R1J3" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8R1J3", "url": "https://www.uniprot.org/uniprotkb/Q8R1J3" } ], "pmid": "" }, { "name": "nucleic acid binding", "id": "GO:0003676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003676", "evidence": [ { "database": "UniProtKB", "id": "Q8R1J3", "url": "https://www.uniprot.org/uniprotkb/Q8R1J3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q8R1J3-1" }, { "uniprot_canonical_ac": "Q8JZL0-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8JZL0", "url": "https://www.uniprot.org/uniprotkb/Q8JZL0" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 594, "chemical_mass": 65633.0, "gene_names": "Zfp467;Znf467;1190001I08Rik;EZI;Ezi;MNCb-3350;Zfp467;Znf467", "protein_name": "Zinc finger protein 467", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q8JZL0", "url": "https://www.uniprot.org/uniprotkb/Q8JZL0" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q8JZL0", "url": "https://www.uniprot.org/uniprotkb/Q8JZL0" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q8JZL0", "url": "https://www.uniprot.org/uniprotkb/Q8JZL0" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q8JZL0", "url": "https://www.uniprot.org/uniprotkb/Q8JZL0" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q8JZL0", "url": "https://www.uniprot.org/uniprotkb/Q8JZL0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q8JZL0-1", "start_pos": "124", "end_pos": "124", "site_lbl": "Thr124", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 124, "start_aa": "Thr", "end_pos": 124, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr124", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": 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"https://www.uniprot.org/uniprotkb/Q569E7" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q569E7", "url": "https://www.uniprot.org/uniprotkb/Q569E7" } ], "pmid": "" }, { "name": "miRNA binding", "id": "GO:0035198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035198", "evidence": [ { "database": "UniProtKB", "id": "Q569E7", "url": "https://www.uniprot.org/uniprotkb/Q569E7" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q569E7", "url": "https://www.uniprot.org/uniprotkb/Q569E7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q569E7", "url": 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"weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 151, "start_aa": "Thr", "end_pos": 151, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr151", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q569E7-1", "start_pos": "270", "end_pos": "270", "site_lbl": "Thr270", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 270, "start_aa": "Thr", "end_pos": 270, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr270", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q569E7-1" }, { "uniprot_canonical_ac": "P70121-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P70121", "url": "https://www.uniprot.org/uniprotkb/P70121" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 873, "chemical_mass": 97551.0, "gene_names": "Zhx1;Zhx1", "protein_name": "Zinc fingers and homeoboxes protein 1", "disease": [], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P70121", "url": "https://www.uniprot.org/uniprotkb/P70121" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P70121", "url": "https://www.uniprot.org/uniprotkb/P70121" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P70121", "url": "https://www.uniprot.org/uniprotkb/P70121" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P70121", "url": "https://www.uniprot.org/uniprotkb/P70121" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "P70121", "url": "https://www.uniprot.org/uniprotkb/P70121" 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"https://disease-ontology.org/term/DOID:0060856", "evidence": [ { "id": "0060856", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060856" } ], "weight": 0.0 }, { "disease_id": "DOID:0080016", "name": "spina bifida", "description": "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.", "url": "https://disease-ontology.org/term/DOID:0080016", "evidence": [ { "id": "0080016", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080016" } ], "weight": 0.0 }, { "disease_id": "DOID:0111766", "name": "X-linked VACTERL association", "description": "A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2.", "url": "https://disease-ontology.org/term/DOID:0111766", "evidence": [ { "id": "0111766", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111766" } ], "weight": 0.0 }, { "disease_id": "DOID:2907", "name": "Goldenhar syndrome", "description": "A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch.", "url": "https://disease-ontology.org/term/DOID:2907", "evidence": [ { "id": "2907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2907" } ], "weight": 0.0 }, { "disease_id": "DOID:4621", "name": "holoprosencephaly", "description": "A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.", "url": "https://disease-ontology.org/term/DOID:4621", "evidence": [ { "id": "4621", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4621" } ], "weight": 0.0 }, { "disease_id": "DOID:758", "name": "visceral heterotaxy 5", "description": "A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs and that has_material_basis_in heterozygous mutation in the NODAL gene on chromosome 10q22.", "url": "https://disease-ontology.org/term/DOID:758", "evidence": [ { "id": "758", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:758" } ], "weight": 0.0 } ], "biological_process": [ { "name": "left/right pattern formation", "id": "GO:0060972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060972", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "cranial skeletal system development", "id": "GO:1904888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904888", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "maintenance of cell number", "id": "GO:0098727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098727", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "face development", "id": "GO:0060324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060324", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "left/right axis specification", "id": "GO:0070986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070986", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "gastrulation", "id": "GO:0007369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007369", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "mRNA transcription by RNA polymerase II", "id": "GO:0042789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042789", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "limb morphogenesis", "id": "GO:0035108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "determination of left/right asymmetry in nervous system", "id": "GO:0035545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035545", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "mesoderm development", "id": "GO:0007498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007498", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "paraxial mesoderm development", "id": "GO:0048339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048339", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "determination of pancreatic left/right asymmetry", "id": "GO:0035469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035469", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "determination of digestive tract left/right asymmetry", "id": "GO:0071907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071907", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "determination of liver left/right asymmetry", "id": "GO:0071910", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071910", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "primitive streak formation", "id": "GO:0090009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090009", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "olfactory bulb development", "id": "GO:0021772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "neural plate development", "id": "GO:0001840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001840", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "axial mesoderm development", "id": "GO:0048318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048318", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "germ-line stem cell population maintenance", "id": "GO:0030718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030718", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "outer ear morphogenesis", "id": "GO:0042473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042473", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "atrial cardiac muscle tissue development", "id": "GO:0003228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003228", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "central nervous system segmentation", "id": "GO:0035283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035283", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q62521", "url": "https://www.uniprot.org/uniprotkb/Q62521" } ], "pmid": "" }, { 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"database": "UniProtKB", "id": "K9J7G2", "url": "https://www.uniprot.org/uniprotkb/K9J7G2" } ], "pmid": "" } ], "biological_process": [ { "name": "response to pheromone", "id": "GO:0019236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019236", "evidence": [ { "database": "UniProtKB", "id": "K9J7G2", "url": "https://www.uniprot.org/uniprotkb/K9J7G2" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "K9J7G2", "url": "https://www.uniprot.org/uniprotkb/K9J7G2" } ], "pmid": "" } ], "molecular_function": [ { "name": "pheromone binding", "id": "GO:0005550", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005550", "evidence": [ { "database": "UniProtKB", "id": "K9J7G2", "url": "https://www.uniprot.org/uniprotkb/K9J7G2" } ], "pmid": "" }, { "name": "pheromone receptor activity", "id": "GO:0016503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016503", "evidence": [ { "database": "UniProtKB", "id": "K9J7G2", "url": "https://www.uniprot.org/uniprotkb/K9J7G2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "K9J7G2-1" }, { "uniprot_canonical_ac": "L7MU53-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "L7MU53", "url": "https://www.uniprot.org/uniprotkb/L7MU53" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 311, "chemical_mass": 34971.0, "gene_names": "Or4c116;MOR233-3;Olfr1221;Or4c116", "protein_name": "Olfactory receptor", "disease": [], "molecular_function": [ { "name": "G protein-coupled receptor activity", "id": "GO:0004930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "evidence": [ { "database": "UniProtKB", "id": "L7MU53", "url": "https://www.uniprot.org/uniprotkb/L7MU53" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "L7MU53", "url": "https://www.uniprot.org/uniprotkb/L7MU53" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "L7MU53", "url": "https://www.uniprot.org/uniprotkb/L7MU53" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "L7MU53", "url": "https://www.uniprot.org/uniprotkb/L7MU53" } ], "pmid": "" } ], "biological_process": [ { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "L7MU53", "url": "https://www.uniprot.org/uniprotkb/L7MU53" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "L7MU53", "url": "https://www.uniprot.org/uniprotkb/L7MU53" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "L7MU53-1" }, { "uniprot_canonical_ac": "P79568-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 326, "chemical_mass": 37407.0, "gene_names": "H2-Q6;0610037M15Rik;H-2Q6;H2-K1;H2-Q6;Qa-6;Qa6", "protein_name": "", "disease": [ { "disease_id": "DOID:0050426", "name": "Stevens-Johnson syndrome", "description": "A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. 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The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea.", "url": "https://disease-ontology.org/term/DOID:11265", "evidence": [ { "id": "11265", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11265" } ], "weight": 0.0 }, { "disease_id": "DOID:11335", "name": "sarcoidosis", "description": "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.", "url": "https://disease-ontology.org/term/DOID:11335", "evidence": [ { "id": "11335", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11335" } ], "weight": 0.0 }, { "disease_id": "DOID:11563", "name": "retinal vasculitis", "description": "A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images.", "url": "https://disease-ontology.org/term/DOID:11563", "evidence": [ { "id": "11563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11563" } ], "weight": 0.0 }, { "disease_id": "DOID:12185", "name": "otosclerosis", "description": "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule.", "url": "https://disease-ontology.org/term/DOID:12185", "evidence": [ { "id": "12185", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12185" } ], "weight": 0.0 }, { "disease_id": "DOID:12361", "name": "Graves' disease", "description": "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.", "url": "https://disease-ontology.org/term/DOID:12361", "evidence": [ { "id": "12361", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12361" } ], "weight": 0.0 }, { "disease_id": "DOID:1245", "name": "vulva cancer", "description": "A female reproductive organ cancer that is located_in the vulva.", "url": "https://disease-ontology.org/term/DOID:1245", "evidence": [ { "id": "1245", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1245" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:12918", "name": "thromboangiitis obliterans", "description": "", "url": "https://disease-ontology.org/term/DOID:12918", "evidence": [ { "id": "12918", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12918" } ], "weight": 0.0 }, { "disease_id": "DOID:13025", "name": "retinopathy of prematurity", "description": "", "url": "https://disease-ontology.org/term/DOID:13025", "evidence": [ { "id": "13025", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13025" } ], "weight": 0.0 }, { "disease_id": "DOID:13099", "name": "Moyamoya disease", "description": "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.", "url": "https://disease-ontology.org/term/DOID:13099", "evidence": [ { "id": "13099", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13099" } ], "weight": 0.0 }, { "disease_id": "DOID:13141", "name": "uveitis", "description": "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid.", "url": "https://disease-ontology.org/term/DOID:13141", "evidence": [ { "id": "13141", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13141" } ], "weight": 0.0 }, { "disease_id": "DOID:13241", "name": "Behcet's disease", "description": "An autoimmune disease that is characterized by mucocutaneous manifestations, including recurrent oral and genital ulcerations, ocular manifestations, especially chronic relapsing uveitis, and systemic vasculitis involving arteries and veins of all sizes.", "url": "https://disease-ontology.org/term/DOID:13241", "evidence": [ { "id": "13241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13241" } ], "weight": 0.0 }, { "disease_id": "DOID:1407", "name": "anterior uveitis", "description": "", "url": "https://disease-ontology.org/term/DOID:1407", "evidence": [ { "id": "1407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1407" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1761", "name": "Melkersson-Rosenthal syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:1761", "evidence": [ { "id": "1761", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1761" } ], "weight": 0.0 }, { "disease_id": "DOID:1883", "name": "hepatitis C", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in hepatitis C virus (Hepacivirus hominis), which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.", "url": "https://disease-ontology.org/term/DOID:1883", "evidence": [ { "id": "1883", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1883" } ], "weight": 0.0 }, { "disease_id": "DOID:2508", "name": "Takayasu's arteritis", "description": "A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body.", "url": "https://disease-ontology.org/term/DOID:2508", "evidence": [ { "id": "2508", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2508" } ], "weight": 0.0 }, { "disease_id": "DOID:2703", "name": "synovitis", "description": "A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling.", "url": "https://disease-ontology.org/term/DOID:2703", "evidence": [ { "id": "2703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2703" } ], "weight": 0.0 }, { "disease_id": "DOID:2723", "name": "dermatitis", "description": "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin.", "url": "https://disease-ontology.org/term/DOID:2723", "evidence": [ { "id": "2723", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2723" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:3611", "name": "acute retinal necrosis syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:3611", "evidence": [ { "id": "3611", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3611" } ], "weight": 0.0 }, { "disease_id": "DOID:3875", "name": "thrombophlebitis", "description": "A phlebitis that results from a blood clot in the vessel.", "url": "https://disease-ontology.org/term/DOID:3875", "evidence": [ { "id": "3875", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3875" } ], "weight": 0.0 }, { "disease_id": "DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.", "url": "https://disease-ontology.org/term/DOID:399", "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ], "weight": 0.0 }, { "disease_id": "DOID:419", "name": "scleroderma", "description": "A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs.", "url": "https://disease-ontology.org/term/DOID:419", "evidence": [ { "id": "419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:419" } ], "weight": 0.0 }, { "disease_id": "DOID:4362", "name": "cervical cancer", "description": "A female reproductive organ cancer that is located_in the cervix.", "url": "https://disease-ontology.org/term/DOID:4362", "evidence": [ { "id": "4362", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4362" } ], "weight": 0.0 }, { "disease_id": "DOID:4481", "name": "allergic rhinitis", "description": "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.", "url": "https://disease-ontology.org/term/DOID:4481", "evidence": [ { "id": "4481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4481" } ], "weight": 0.0 }, { "disease_id": "DOID:525", "name": "central nervous system vasculitis", "description": "A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine.", "url": "https://disease-ontology.org/term/DOID:525", "evidence": [ { "id": "525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:525" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "weight": 0.0 }, { "disease_id": "DOID:6196", "name": "reactive arthritis", "description": "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body.", "url": "https://disease-ontology.org/term/DOID:6196", "evidence": [ { "id": "6196", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6196" } ], "weight": 0.0 }, { "disease_id": "DOID:635", "name": "acquired immunodeficiency syndrome", "description": "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.", "url": "https://disease-ontology.org/term/DOID:635", "evidence": [ { "id": "635", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:635" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9415", "name": "allergic asthma", "description": "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness.", "url": "https://disease-ontology.org/term/DOID:9415", "evidence": [ { "id": "9415", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9415" } ], "weight": 0.0 }, { "disease_id": "DOID:9849", "name": "Meniere's disease", "description": "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss.", "url": "https://disease-ontology.org/term/DOID:9849", "evidence": [ { "id": "9849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9849" } ], "weight": 0.0 }, { "disease_id": "DOID:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body.", "url": "https://disease-ontology.org/term/DOID:987", "evidence": [ { "id": "987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:987" } ], "weight": 0.0 }, { "disease_id": "DOID:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "weight": 0.0 } ], "biological_process": [ { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class Ib", "id": "GO:0002476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002476", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent", "id": "GO:0002486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002486", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "positive regulation of T cell mediated cytotoxicity", "id": "GO:0001916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001916", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" } ], "cellular_component": [ { "name": "MHC class Ib protein complex", "id": "GO:0032398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032398", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "MHC class I protein complex", "id": "GO:0042612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042612", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "Golgi medial cisterna", "id": "GO:0005797", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005797", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "endoplasmic reticulum exit site", "id": "GO:0070971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070971", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "cis-Golgi network membrane", "id": "GO:0033106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033106", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "MHC class I peptide loading complex", "id": "GO:0042824", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042824", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "lumenal side of endoplasmic reticulum membrane", "id": "GO:0098553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098553", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" } ], "molecular_function": [ { "name": "natural killer cell lectin-like receptor binding", "id": "GO:0046703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046703", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "TAP1 binding", "id": "GO:0046978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046978", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "TAP2 binding", "id": "GO:0046979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046979", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "beta-2-microglobulin binding", "id": "GO:0030881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030881", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "peptide antigen binding", "id": "GO:0042605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042605", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "TAP binding", "id": "GO:0046977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046977", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "T cell receptor binding", "id": "GO:0042608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042608", "evidence": [ { "database": "UniProtKB", "id": "P79568", "url": "https://www.uniprot.org/uniprotkb/P79568" } ], "pmid": "" }, { "name": "14-3-3 protein binding", "id": "GO:0071889", "url": 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"GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "positive regulation of neural precursor cell proliferation", "id": "GO:2000179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000179", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "negative regulation of neuron migration", "id": "GO:2001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001223", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "positive regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070886", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell apoptotic process", "id": "GO:0010667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010667", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "synaptic membrane adhesion", "id": "GO:0099560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099560", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "positive regulation of Schwann cell proliferation", "id": "GO:0010625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010625", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "cardiac conduction system development", "id": "GO:0003161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003161", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "ventricular trabecula myocardium morphogenesis", "id": "GO:0003222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003222", "evidence": [ { "database": "UniProtKB", "id": "Q6DR98", "url": "https://www.uniprot.org/uniprotkb/Q6DR98" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": 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"" }, { "name": "microtubule severing", "id": "GO:0051013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051013", "evidence": [ { "database": "UniProtKB", "id": "J3QK54", "url": "https://www.uniprot.org/uniprotkb/J3QK54" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "J3QK54", "url": "https://www.uniprot.org/uniprotkb/J3QK54" } ], "pmid": "" }, { "name": "morphogenesis of a branching structure", "id": "GO:0001763", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001763", "evidence": [ { "database": "UniProtKB", "id": "J3QK54", "url": "https://www.uniprot.org/uniprotkb/J3QK54" } ], "pmid": "" }, { "name": "negative regulation of axon regeneration", "id": "GO:0048681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048681", "evidence": [ { "database": "UniProtKB", "id": "J3QK54", "url": "https://www.uniprot.org/uniprotkb/J3QK54" } ], "pmid": "" } ], "molecular_function": [ { "name": "microtubule severing ATPase activity", "id": "GO:0008568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008568", "evidence": [ { "database": "UniProtKB", "id": "J3QK54", "url": "https://www.uniprot.org/uniprotkb/J3QK54" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "J3QK54", "url": "https://www.uniprot.org/uniprotkb/J3QK54" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "J3QK54", "url": "https://www.uniprot.org/uniprotkb/J3QK54" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "J3QK54", "url": "https://www.uniprot.org/uniprotkb/J3QK54" } ], "pmid": "" }, { 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"glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 227, "chemical_mass": 26052.0, "gene_names": "Gm20834;Gm20834", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "J3QM72", "url": "https://www.uniprot.org/uniprotkb/J3QM72" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "J3QM72", "url": "https://www.uniprot.org/uniprotkb/J3QM72" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "J3QM72", "url": "https://www.uniprot.org/uniprotkb/J3QM72" } ], "pmid": "" }, { "name": "gamete generation", "id": "GO:0007276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007276", "evidence": [ { "database": "UniProtKB", "id": "J3QM72", "url": "https://www.uniprot.org/uniprotkb/J3QM72" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "J3QM72-1" }, { "uniprot_canonical_ac": "J3QQ23-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "J3QQ23", "url": "https://www.uniprot.org/uniprotkb/J3QQ23" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 232, "chemical_mass": 26617.0, "gene_names": "Gm21310;Gm21310", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "J3QQ23", "url": "https://www.uniprot.org/uniprotkb/J3QQ23" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "J3QQ23", "url": "https://www.uniprot.org/uniprotkb/J3QQ23" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "J3QQ23", "url": "https://www.uniprot.org/uniprotkb/J3QQ23" } ], "pmid": "" }, { "name": "gamete generation", "id": "GO:0007276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007276", "evidence": [ { "database": "UniProtKB", "id": "J3QQ23", "url": "https://www.uniprot.org/uniprotkb/J3QQ23" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "J3QQ23-1" }, { "uniprot_canonical_ac": "K7N751-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "K7N751", "url": "https://www.uniprot.org/uniprotkb/K7N751" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 203, "chemical_mass": 24280.0, "gene_names": "Gm3696;100042149;544988;Gm10014;Gm3696;Gm5794", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "K7N751-1" }, { "uniprot_canonical_ac": "L7MUF1-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "L7MUF1", "url": "https://www.uniprot.org/uniprotkb/L7MUF1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 212, "chemical_mass": 24676.0, "gene_names": "Gm6121;619991;Gm6121", "protein_name": "", "disease": [ { "disease_id": "DOID:0070176", "name": "spermatogenic failure 4", "description": "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23.", "url": "https://disease-ontology.org/term/DOID:0070176", "evidence": [ { "id": "0070176", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070176" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "L7MUF1", "url": "https://www.uniprot.org/uniprotkb/L7MUF1" } ], "pmid": "" }, { "name": "synaptonemal complex", "id": "GO:0000795", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000795", "evidence": [ { "database": "UniProtKB", "id": "L7MUF1", "url": "https://www.uniprot.org/uniprotkb/L7MUF1" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "L7MUF1", "url": "https://www.uniprot.org/uniprotkb/L7MUF1" } ], "pmid": "" }, { "name": "meiotic cell cycle", "id": "GO:0051321", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051321", "evidence": [ { "database": "UniProtKB", "id": "L7MUF1", "url": "https://www.uniprot.org/uniprotkb/L7MUF1" } ], "pmid": "" }, { "name": "sperm DNA condensation", "id": "GO:0035092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035092", "evidence": [ { "database": "UniProtKB", "id": "L7MUF1", "url": "https://www.uniprot.org/uniprotkb/L7MUF1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "L7MUF1-1" }, { "uniprot_canonical_ac": "Q1HL35-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 384, "chemical_mass": 42253.0, "gene_names": "Dusp5;Dusp5;Gm337", "protein_name": "Dual specificity protein phosphatase", "disease": [], "biological_process": [ { "name": "dephosphorylation", "id": "GO:0016311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016311", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "peptidyl-tyrosine dephosphorylation", "id": "GO:0035335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035335", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "negative regulation of vasoconstriction", "id": "GO:0045906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045906", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "endoderm formation", "id": "GO:0001706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001706", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "peptidyl-threonine dephosphorylation", "id": "GO:0035970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035970", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "positive regulation of cerebral blood circulation", "id": "GO:0120277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120277", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein serine/threonine phosphatase activity", "id": "GO:0004722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "phosphoprotein phosphatase activity", "id": "GO:0004721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004721", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "protein tyrosine/serine/threonine phosphatase activity", "id": "GO:0008138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008138", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "MAP kinase tyrosine/serine/threonine phosphatase activity", "id": "GO:0017017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017017", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "phosphatase activity", "id": "GO:0016791", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016791", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" }, { "name": "protein tyrosine phosphatase activity", "id": "GO:0004725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004725", "evidence": [ { "database": "UniProtKB", "id": "Q1HL35", "url": "https://www.uniprot.org/uniprotkb/Q1HL35" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q1HL35-1" }, { "uniprot_canonical_ac": "Q3UD61-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3UD61", "url": "https://www.uniprot.org/uniprotkb/Q3UD61" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 397, "chemical_mass": 44947.0, "gene_names": "Mx1;Mx", "protein_name": "Protein Mx1", "disease": [ { "disease_id": "DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ], "weight": 0.0 }, { "disease_id": "DOID:11166", "name": "Human papillomavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.", "url": "https://disease-ontology.org/term/DOID:11166", "evidence": [ { "id": "11166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11166" } ], "weight": 0.0 }, { "disease_id": "DOID:1273", "name": "respiratory syncytial virus infectious disease", "description": "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus (Orthopneumovirus hominis), which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:4492", "name": "avian influenza", "description": "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus (Alphainfluenzavirus influenzae), which is transmitted by contact with infected poultry. At least five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress.", "url": "https://disease-ontology.org/term/DOID:4492", "evidence": [ { "id": "4492", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4492" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:986", "name": "alopecia areata", "description": "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially 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"106991406", "evidence": [ { "id": "rs3388985447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388985447" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "395", "end_pos": "395", "site_lbl": "Cys395", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106991367", "evidence": [ { "id": "rs13475131", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13475131" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "397", "end_pos": "397", "site_lbl": "Asn397", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106991361", "evidence": [ { "id": "rs3389000525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389000525" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Ala408", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106991330", "evidence": [ { "id": "rs3546916701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546916701" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Asp415", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106991309", "evidence": [ { "id": "rs3388977298", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388977298" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "423", "end_pos": "423", "site_lbl": "Asn423", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106991285", "evidence": [ { "id": "rs3389007116", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389007116" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "458", "end_pos": "458", "site_lbl": "Thr458", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106986516", "evidence": [ { "id": "rs3388989525", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388989525" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "459", "end_pos": "459", "site_lbl": "His459", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106986514", "evidence": [ { "id": "rs3389009566", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389009566" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "477", "end_pos": "477", "site_lbl": "Leu477", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106986372", "evidence": [ { "id": "rs3389006908", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389006908" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "493", "end_pos": "493", "site_lbl": "Thr493", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106986323", "evidence": [ { "id": "rs3389009926", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389009926" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "526", "end_pos": "526", "site_lbl": "Leu526", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106984281", "evidence": [ { "id": "rs3389007066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389007066" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "530", "end_pos": "530", "site_lbl": "Tyr530", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106984269", "evidence": [ { "id": "rs3388995406", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995406" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "537", "end_pos": "537", "site_lbl": "Gly537", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106984248", "evidence": [ { "id": "rs3399804873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399804873" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "53", "end_pos": "53", "site_lbl": "Cys53", "weight": 0.0, "snv": [ { "sequence_org": "C", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106992393", "evidence": [ { "id": "rs3388958563", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388958563" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106992395", "evidence": [ { "id": "rs3389006146", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389006146" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "543", "end_pos": "543", "site_lbl": "Pro543", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106984230", "evidence": [ { "id": "rs3399090128", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399090128" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "546", "end_pos": "546", "site_lbl": "Ile546", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106984221", "evidence": [ { "id": "rs3399566813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3399566813" } ] }, { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106984220", "evidence": [ { "id": "rs3389012466", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389012466" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Asn553", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106984060", "evidence": [ { "id": "rs3389009917", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389009917" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Asp559", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106984042", "evidence": [ { "id": "rs3389000558", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389000558" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "592", "end_pos": "592", "site_lbl": "Gln592", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106982327", "evidence": [ { "id": "rs3389010067", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389010067" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "625", "end_pos": "625", "site_lbl": "Glu625", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106981986", "evidence": [ { "id": "rs3389000507", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389000507" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "630", "end_pos": "630", "site_lbl": "Ile630", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106981971", "evidence": [ { "id": "rs3388977330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388977330" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "645", "end_pos": "645", "site_lbl": "Arg645", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106981926", "evidence": [ { "id": "rs3389006115", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389006115" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "646", "end_pos": "646", "site_lbl": "Leu646", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106981923", "evidence": [ { "id": "rs3388977311", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388977311" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "649", "end_pos": "649", "site_lbl": "Ser649", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106981913", "evidence": [ { "id": "rs3389002031", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389002031" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "655", "end_pos": "655", "site_lbl": "Ala655", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106981896", "evidence": [ { "id": "rs3388989552", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388989552" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Ala69", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106992346", "evidence": [ { "id": "rs3389012455", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389012455" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Thr6", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106992535", "evidence": [ { "id": "rs3388995427", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388995427" } ] }, { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106992536", "evidence": [ { "id": "rs3388958607", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388958607" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Pro76", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106992326", "evidence": [ { "id": "rs3389006898", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389006898" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "95", "end_pos": "95", "site_lbl": "Tyr95", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycolipid related.", "chr_id": "8", "chr_pos": "106992267", "evidence": [ { "id": "rs13475134", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13475134" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "33", "end_pos": "33", "site_lbl": "Arg33", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly decreases binding with phosphatidic acid and phosphatidylserine. Abolishes binding with phosphatidic acid and phosphatidylserine; when associated with 45-DEL-48. Strongly decreases sphingomyelin phosphodiesterase activity; when associated with 45-DEL-48. Abolishes sphingomyelin phosphodiesterase activity and locates at endoplasmic reticulum; when associated with 45-DEL-48 and 92-A-A-93.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJY3", "url": "https://www.uniprot.org/uniprotkb/Q9JJY3" }, { "database": "PubMed", "id": "21550973", "url": "https://glygen.org/publication/PubMed/21550973" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Arg92", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly decreases binding with phosphatidic acid.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJY3", "url": "https://www.uniprot.org/uniprotkb/Q9JJY3" }, { "database": "PubMed", "id": "21550973", "url": "https://glygen.org/publication/PubMed/21550973" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "93", "end_pos": "93", "site_lbl": "Arg93", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly decreases binding with phosphatidic acid.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJY3", "url": "https://www.uniprot.org/uniprotkb/Q9JJY3" }, { "database": "PubMed", "id": "21550973", "url": "https://glygen.org/publication/PubMed/21550973" } ] } ] }, { "uniprot_canonical_ac": "Q9JJY3-1", "start_pos": "99", "end_pos": "99", "site_lbl": "Arg99", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No effect on binding with phosphatidic acid.", "evidence": [ { "database": "UniProtKB", "id": "Q9JJY3", "url": "https://www.uniprot.org/uniprotkb/Q9JJY3" }, { "database": "PubMed", "id": "21550973", "url": "https://glygen.org/publication/PubMed/21550973" } ] } ] } ], "record_id": "Q9JJY3-1" }, { "uniprot_canonical_ac": "O54943-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "O54943", "url": "https://www.uniprot.org/uniprotkb/O54943" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 1257, "chemical_mass": 135881.0, "gene_names": "Per2;Per2;mKIAA0347;mPer2", "protein_name": "Period circadian protein homolog 2", "disease": [ { "disease_id": "DOID:0050628", "name": "advanced sleep phase syndrome", "description": "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning.", "url": "https://disease-ontology.org/term/DOID:0050628", "evidence": [ { "id": "0050628", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050628" } ], "weight": 0.0 }, { "disease_id": "DOID:0050696", "name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy.", "url": "https://disease-ontology.org/term/DOID:0050696", "evidence": [ { "id": 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:2224" } ], "weight": 0.0 }, { "disease_id": "DOID:2226", "name": "myeloproliferative neoplasm", "description": "A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood.", "url": "https://disease-ontology.org/term/DOID:2226", "evidence": [ { "id": "2226", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2226" } ], "weight": 0.0 }, { "disease_id": "DOID:2228", "name": "thrombocytosis", "description": "A blood platelet disease that is characterized by the presence of high platelet counts in the blood.", "url": "https://disease-ontology.org/term/DOID:2228", "evidence": [ { "id": "2228", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2228" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral 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"https://www.alliancegenome.org/disease/DOID:2531" } ], "weight": 0.0 }, { "disease_id": "DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver.", "url": "https://disease-ontology.org/term/DOID:3571", "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3910", "evidence": [ { "id": "3910", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ], "weight": 0.0 }, { "disease_id": "DOID:4033", "name": "bacterial gastritis", "description": "A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting.", "url": "https://disease-ontology.org/term/DOID:4033", "evidence": [ { "id": "4033", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4033" } ], "weight": 0.0 }, { "disease_id": "DOID:4971", "name": "myelofibrosis", "description": "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue.", "url": "https://disease-ontology.org/term/DOID:4971", "evidence": [ { "id": "4971", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4971" } ], "weight": 0.0 }, { "disease_id": "DOID:5082", "name": "liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:5082", "evidence": [ { "id": "5082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5082" } ], "weight": 0.0 }, { "disease_id": "DOID:5327", "name": "retinal detachment", "description": "", "url": "https://disease-ontology.org/term/DOID:5327", "evidence": [ { "id": "5327", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5327" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage.", "url": "https://disease-ontology.org/term/DOID:7147", "evidence": [ { "id": "7147", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:8997", "name": "polycythemia vera", "description": "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8997", "evidence": [ { "id": "8997", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8997" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "T-helper 1 cell differentiation", "id": "GO:0045063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045063", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of NK T cell proliferation", "id": "GO:0051142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051142", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "negative regulation of growth hormone receptor signaling pathway", "id": "GO:0060400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060400", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of growth hormone receptor signaling pathway", "id": "GO:0060399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060399", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of interleukin-17 production", "id": "GO:0032740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032740", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "interleukin-5-mediated signaling pathway", "id": "GO:0038043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038043", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "interleukin-3-mediated signaling pathway", "id": "GO:0038156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038156", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "response to tumor necrosis factor", "id": "GO:0034612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034612", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "post-translational protein modification", "id": "GO:0043687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043687", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of cell activation", "id": "GO:0050867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050867", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "erythrocyte differentiation", "id": "GO:0030218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030218", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "type II interferon-mediated signaling pathway", "id": "GO:0060333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060333", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "hormone-mediated signaling pathway", "id": "GO:0009755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009755", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of cell-substrate adhesion", "id": "GO:0010811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010811", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "negative regulation of cell-cell adhesion", "id": "GO:0022408", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022408", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "interleukin-12-mediated signaling pathway", "id": "GO:0035722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035722", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cellular response to dexamethasone stimulus", "id": "GO:0071549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071549", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor production", "id": "GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "response to antibiotic", "id": "GO:0046677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046677", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "modulation of chemical synaptic transmission", "id": "GO:0050804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050804", "evidence": [ { 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"GO:0042102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042102", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "lipopolysaccharide-mediated signaling pathway", "id": "GO:0031663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031663", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of interleukin-1 beta production", "id": "GO:0032731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032731", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell apoptotic process", "id": "GO:0010667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010667", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of tyrosine phosphorylation of STAT protein", "id": "GO:0042531", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042531", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "platelet-derived growth factor receptor signaling pathway", "id": "GO:0048008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048008", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "response to hydroperoxide", "id": "GO:0033194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033194", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "erythropoietin-mediated signaling pathway", "id": "GO:0038162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038162", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "tyrosine phosphorylation of STAT protein", "id": "GO:0007260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007260", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "growth hormone receptor signaling pathway", "id": "GO:0060396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060396", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "symbiont-induced defense-related programmed cell death", "id": "GO:0034050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034050", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "response to granulocyte macrophage colony-stimulating factor", "id": "GO:0097012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097012", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to oxidative stress", "id": "GO:0008631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008631", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "axon regeneration", "id": "GO:0031103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031103", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of SMAD protein signal transduction", "id": "GO:0060391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060391", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of MHC class II biosynthetic process", "id": "GO:0045348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045348", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "regulation of nitric oxide biosynthetic process", "id": "GO:0045428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045428", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of platelet aggregation", "id": "GO:1901731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901731", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "myeloid cell differentiation", "id": "GO:0030099", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030099", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "enzyme-linked receptor protein signaling pathway", "id": "GO:0007167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007167", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], 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"https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of growth factor dependent skeletal muscle satellite cell proliferation", "id": "GO:1902728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902728", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell apoptotic process", "id": "GO:1904037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904037", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "growth hormone receptor signaling pathway via JAK-STAT", "id": "GO:0060397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060397", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of natural killer cell proliferation", "id": "GO:0032819", 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"GO:0035166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035166", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "activation of Janus kinase activity", "id": "GO:0042976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042976", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "interleukin-23-mediated signaling pathway", "id": "GO:0038155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038155", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of T-helper 17 type immune response", "id": "GO:2000318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000318", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of platelet activation", "id": "GO:0010572", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010572", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "negative regulation of protein localization to chromatin", "id": "GO:0120186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120186", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "positive regulation of leukocyte proliferation", "id": "GO:0070665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070665", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "regulation of postsynapse to nucleus signaling pathway", "id": "GO:1905539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905539", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "negative regulation of 3'-UTR-mediated mRNA stabilization", "id": "GO:1905869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905869", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "granulocyte-macrophage colony-stimulating factor signaling pathway", "id": "GO:0038157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038157", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "defense response to symbiont", "id": "GO:0140546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140546", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "regulation of cell-cell adhesion", "id": "GO:0022407", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022407", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "regulation of cell activation", "id": "GO:0050865", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050865", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "granulocyte macrophage colony-stimulating factor receptor complex", "id": "GO:0030526", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030526", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "extrinsic component of cytoplasmic side of plasma membrane", "id": "GO:0031234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031234", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": "https://www.uniprot.org/uniprotkb/Q62120" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q62120", "url": 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{ "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q9WUD1", "url": "https://www.uniprot.org/uniprotkb/Q9WUD1" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "Q9WUD1", "url": "https://www.uniprot.org/uniprotkb/Q9WUD1" } ], "pmid": "" }, { "name": "G protein-coupled receptor binding", "id": "GO:0001664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001664", "evidence": [ { "database": "UniProtKB", "id": "Q9WUD1", "url": "https://www.uniprot.org/uniprotkb/Q9WUD1" } ], "pmid": "" }, { "name": "heat shock protein binding", "id": "GO:0031072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031072", "evidence": [ { "database": "UniProtKB", "id": "Q9WUD1", "url": "https://www.uniprot.org/uniprotkb/Q9WUD1" } ], "pmid": "" }, { "name": 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"uniprot_canonical_ac": "G3UW40-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Asn11", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G44050CO", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NSGVAVKYGNDSSAELSELHLAALASLKGDIVELNK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 11, "start_aa": "Asn", "end_pos": 11, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn11", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "G3UW40-1", "start_pos": "2", "end_pos": "2", "site_lbl": "Asn2", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], 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"" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "E9PV04", "url": "https://www.uniprot.org/uniprotkb/E9PV04" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9PV04", "url": "https://www.uniprot.org/uniprotkb/E9PV04" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "E9PV04", "url": "https://www.uniprot.org/uniprotkb/E9PV04" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "E9PV04", "url": "https://www.uniprot.org/uniprotkb/E9PV04" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": 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CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:9253", "name": "gastrointestinal stromal tumor", "description": "", "url": "https://disease-ontology.org/term/DOID:9253", "evidence": [ { "id": "9253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9253" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9282", "name": "ocular hypertension", "description": "An eye 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"evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "cell fate specification", "id": "GO:0001708", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001708", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of smoothened signaling pathway", "id": "GO:0045880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045880", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "determination of left/right asymmetry in lateral mesoderm", "id": "GO:0003140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003140", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of penile erection", "id": "GO:0060406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060406", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of sprouting angiogenesis", "id": "GO:1903672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903672", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "prostate epithelial cord elongation", "id": "GO:0060523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060523", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "striated muscle tissue development", "id": "GO:0014706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014706", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "hindgut morphogenesis", "id": "GO:0007442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007442", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of alpha-beta T cell differentiation", "id": "GO:0046639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046639", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of mesenchymal cell apoptotic process", "id": "GO:2001054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001054", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "spinal cord dorsal/ventral patterning", "id": "GO:0021513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021513", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "mesenchymal-epithelial cell signaling", "id": "GO:0060638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060638", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "fungiform papilla morphogenesis", "id": "GO:0061197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061197", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "polarity specification of anterior/posterior axis", "id": "GO:0009949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009949", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle cell proliferation", "id": "GO:0014858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014858", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "trachea morphogenesis", "id": "GO:0060439", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060439", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "right lung development", "id": "GO:0060458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060458", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "left lung development", "id": "GO:0060459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060459", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "primary prostatic bud elongation", "id": "GO:0060516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060516", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of prostatic bud formation", "id": "GO:0060685", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060685", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of mesenchymal cell proliferation involved in prostate gland development", "id": "GO:0060782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060782", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "mesenchymal smoothened signaling pathway involved in prostate gland development", "id": "GO:0060783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060783", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of sclerotome development", "id": "GO:0061189", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061189", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "tracheoesophageal septum formation", "id": "GO:1905327", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905327", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of ureter smooth muscle cell differentiation", "id": "GO:2000062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000062", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of ureter smooth muscle cell differentiation", "id": "GO:2000063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000063", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of kidney smooth muscle cell differentiation", "id": "GO:2000357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000357", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of kidney smooth muscle cell differentiation", "id": "GO:2000358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000358", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation involved in ureter development", "id": "GO:2000729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000729", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of photoreceptor cell differentiation", "id": "GO:0046534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046534", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of immature T cell proliferation in thymus", "id": "GO:0033092", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033092", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell chemotaxis", "id": "GO:2001028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001028", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "vasculogenesis", "id": "GO:0001570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001570", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte differentiation", "id": "GO:0048714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048714", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "blood coagulation", "id": "GO:0007596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007596", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of T cell proliferation", "id": "GO:0042130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042130", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of T cell differentiation in thymus", "id": "GO:0033089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033089", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "osteoblast development", "id": "GO:0002076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002076", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of alpha-beta T cell differentiation", "id": "GO:0046638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046638", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of proteolysis", "id": "GO:0030162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030162", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "hindbrain development", "id": "GO:0030902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030902", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "pancreas development", "id": "GO:0031016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031016", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic forelimb morphogenesis", "id": "GO:0035115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035115", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic morphogenesis", "id": "GO:0048598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048598", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of cell division", "id": "GO:0051781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051781", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "Bergmann glial cell differentiation", "id": "GO:0060020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060020", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle tissue development", "id": "GO:0048643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048643", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "spinal cord motor neuron differentiation", "id": "GO:0021522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021522", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "hair follicle development", "id": "GO:0001942", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001942", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "androgen metabolic process", "id": "GO:0008209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008209", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of Wnt signaling pathway", "id": "GO:0030178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030178", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "odontogenesis", "id": "GO:0042476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042476", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "branching involved in blood vessel morphogenesis", "id": "GO:0001569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001569", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "ectoderm development", "id": "GO:0007398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007398", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "prostate gland development", "id": "GO:0030850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030850", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "animal organ formation", "id": "GO:0048645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048645", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "male genitalia morphogenesis", "id": "GO:0048808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048808", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell proliferation involved in prostate gland development", "id": "GO:0060769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060769", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "intermediate filament organization", "id": "GO:0045109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045109", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "protein autoprocessing", "id": "GO:0016540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016540", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative thymic T cell selection", "id": "GO:0045060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045060", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "striated muscle cell differentiation", "id": "GO:0051146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051146", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "metanephric collecting duct development", "id": "GO:0072205", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072205", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "neuroblast proliferation", "id": "GO:0007405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007405", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "myoblast differentiation", "id": "GO:0045445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045445", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "oligodendrocyte development", "id": "GO:0014003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014003", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "male genitalia development", "id": "GO:0030539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030539", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "neuron fate specification", "id": "GO:0048665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048665", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of cholesterol efflux", "id": "GO:0090370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090370", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "lymphoid progenitor cell differentiation", "id": "GO:0002320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002320", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032435", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "cerebellar granule cell precursor proliferation", "id": "GO:0021930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021930", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "tongue development", "id": "GO:0043586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043586", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "self proteolysis", "id": "GO:0097264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097264", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "limb bud formation", "id": "GO:0060174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060174", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "lung epithelium development", "id": "GO:0060428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060428", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "respiratory tube development", "id": "GO:0030323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030323", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "formation of anatomical boundary", "id": "GO:0048859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048859", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "myotube differentiation", "id": "GO:0014902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014902", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive thymic T cell selection", "id": "GO:0045059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045059", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "anatomical structure formation involved in morphogenesis", "id": "GO:0048646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048646", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "salivary gland cavitation", "id": "GO:0060662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060662", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic foregut morphogenesis", "id": "GO:0048617", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048617", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "alpha-tubulin acetylation", "id": "GO:0071929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071929", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "branching involved in salivary gland morphogenesis", "id": "GO:0060445", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060445", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "metanephric mesenchymal cell proliferation involved in metanephros development", "id": "GO:0072136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072136", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of mesenchymal cell proliferation", "id": "GO:0002053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002053", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "dorsal/ventral neural tube patterning", "id": "GO:0021904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021904", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "telencephalon regionalization", "id": "GO:0021978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021978", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of Wnt signaling pathway", "id": "GO:0030177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030177", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of T cell differentiation in thymus", "id": "GO:0033085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033085", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "smooth muscle tissue development", "id": "GO:0048745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048745", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "lung morphogenesis", "id": "GO:0060425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060425", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "trachea development", "id": "GO:0060438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060438", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "epithelial tube branching involved in lung morphogenesis", "id": "GO:0060441", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060441", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "branching involved in prostate gland morphogenesis", "id": "GO:0060442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060442", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "epithelial-mesenchymal cell signaling", "id": "GO:0060684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060684", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of transcription elongation by RNA polymerase II", "id": "GO:0034244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034244", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "somite development", "id": "GO:0061053", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061053", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "cellular response to lithium ion", "id": "GO:0071285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071285", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of cerebellar granule cell precursor proliferation", "id": "GO:0021940", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021940", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "midbrain development", "id": "GO:0030901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030901", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic skeletal system development", "id": "GO:0048706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048706", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "thalamus development", "id": "GO:0021794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021794", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "tongue morphogenesis", "id": "GO:0043587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043587", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of oligodendrocyte progenitor proliferation", "id": "GO:0070447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070447", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "commissural neuron axon guidance", "id": "GO:0071679", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071679", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "lung-associated mesenchyme development", "id": "GO:0060484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060484", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "mesenchymal cell proliferation involved in lung development", "id": "GO:0060916", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060916", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "fungiform papilla formation", "id": "GO:0061198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061198", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "ventral spinal cord interneuron specification", "id": "GO:0021521", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021521", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "forebrain regionalization", "id": "GO:0021871", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021871", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of odontogenesis", "id": "GO:0042481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042481", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "stem cell development", "id": "GO:0048864", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048864", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "mesenchymal cell proliferation", "id": "GO:0010463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010463", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "embryonic digestive tract morphogenesis", "id": "GO:0048557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048557", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "bud outgrowth involved in lung branching", "id": "GO:0060447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060447", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "lung lobe morphogenesis", "id": "GO:0060463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060463", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "epithelial cell proliferation involved in salivary gland morphogenesis", "id": "GO:0060664", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060664", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of protein localization to nucleus", "id": "GO:1900180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900180", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of striated muscle cell differentiation", "id": "GO:0051155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051155", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "regulation of epithelial cell proliferation involved in prostate gland development", "id": "GO:0060768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060768", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "vasculogenesis involved in coronary vascular morphogenesis", "id": "GO:0060979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060979", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "cell proliferation in external granule layer", "id": "GO:0021924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021924", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "positive regulation of neurotrophin production", "id": "GO:0032901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032901", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "negative regulation of dopaminergic neuron differentiation", "id": "GO:1904339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904339", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "neural tube formation", "id": "GO:0001841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001841", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "intein-mediated protein splicing", "id": "GO:0016539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016539", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "fungiform papilla development", "id": "GO:0061196", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061196", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "digestive tract mesoderm development", "id": "GO:0007502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007502", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "zona limitans intrathalamica formation", "id": "GO:0022006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022006", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "lateral motor column neuron differentiation", "id": "GO:0021525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021525", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "endoplasmic reticulum lumen", "id": "GO:0005788", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005788", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q62226", "url": "https://www.uniprot.org/uniprotkb/Q62226" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": 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}, { "uniprot_canonical_ac": "O08795-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Lys83", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, lectin/p-type.", "chr_id": "9", "chr_pos": "21915844", "evidence": [ { "id": "rs3389023448", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389023448" } ] } ] } ], "record_id": "O08795-1" }, { "uniprot_canonical_ac": "P18872-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P18872", "url": "https://www.uniprot.org/uniprotkb/P18872" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 354, "chemical_mass": 40085.0, "gene_names": "Gnao1;Galphao;Gna0;Gnao1;Gnao;Hg1g;alphaO", "protein_name": "Guanine nucleotide-binding protein G(o) subunit alpha", "disease": [ { "disease_id": "DOID:0050709", 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disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { "name": "G-protein beta/gamma-subunit complex binding", "id": "GO:0031683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031683", "evidence": [ { "database": "UniProtKB", "id": "Q6R0H7", "url": "https://www.uniprot.org/uniprotkb/Q6R0H7" } ], "pmid": "" }, { 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"P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150904430", "evidence": [ { "id": "rs3388793351", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388793351" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "417", "end_pos": "417", "site_lbl": "Asn417", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150904498", "evidence": [ { "id": "rs3388781691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388781691" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "446", "end_pos": "446", "site_lbl": "Ala446", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150905968", "evidence": [ { "id": "rs3544084005", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544084005" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "450", "end_pos": "450", "site_lbl": "Asp450", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150905979", "evidence": [ { "id": "rs3388809322", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388809322" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "468", "end_pos": "468", "site_lbl": "Trp468", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150906034", "evidence": [ { "id": "rs3388801021", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801021" } ] }, { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150906033", "evidence": [ { "id": "rs3388801072", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801072" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "479", "end_pos": "479", "site_lbl": "Phe479", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150906067", "evidence": [ { "id": "rs3411968260", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3411968260" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "497", "end_pos": "497", "site_lbl": "Leu497", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150906121", "evidence": [ { "id": "rs3388814465", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388814465" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "516", "end_pos": "516", "site_lbl": "Pro516", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150906178", "evidence": [ { "id": "rs3388801066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801066" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "525", "end_pos": "525", "site_lbl": "Phe525", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150906205", "evidence": [ { "id": "rs3388814482", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388814482" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "531", "end_pos": "531", "site_lbl": "Asp531", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150906222", "evidence": [ { "id": "rs3396319109", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396319109" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "533", "end_pos": "533", "site_lbl": "Tyr533", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150906229", "evidence": [ { "id": "rs3396453977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396453977" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Leu550", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150911901", "evidence": [ { "id": "rs3388820557", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388820557" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Leu559", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150911928", "evidence": [ { "id": "rs3388807867", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388807867" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "567", "end_pos": "567", "site_lbl": "Ala567", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150911952", "evidence": [ { "id": "rs3544046773", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544046773" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "590", "end_pos": "590", "site_lbl": "Met590", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912022", "evidence": [ { "id": "rs3388814458", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388814458" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Leu59", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150876356", "evidence": [ { "id": "rs3543987760", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3543987760" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "600", "end_pos": "600", "site_lbl": "Asp600", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912052", "evidence": [ { "id": "rs3388814292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388814292" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "615", "end_pos": "615", "site_lbl": "His615", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912095", "evidence": [ { "id": "rs3544003257", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3544003257" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "664", "end_pos": "664", "site_lbl": "Thr664", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912243", "evidence": [ { "id": "rs3388813989", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388813989" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "670", "end_pos": "670", "site_lbl": "Asp670", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912261", "evidence": [ { "id": "rs3388798575", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388798575" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "677", "end_pos": "677", "site_lbl": "Lys677", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912281", "evidence": [ { "id": "rs3388798556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388798556" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "692", "end_pos": "692", "site_lbl": "Pro692", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912327", "evidence": [ { "id": "rs3388807915", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388807915" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "707", "end_pos": "707", "site_lbl": "Arg707", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912371", "evidence": [ { "id": "rs3388806772", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388806772" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "709", "end_pos": "709", "site_lbl": "His709", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912377", "evidence": [ { "id": "rs3388781714", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388781714" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "730", "end_pos": "730", "site_lbl": "Ile730", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912440", "evidence": [ { "id": "rs3388820583", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388820583" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "742", "end_pos": "742", "site_lbl": "Pro742", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912477", "evidence": [ { "id": "rs3396443796", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396443796" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "743", "end_pos": "743", "site_lbl": "Phe743", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912480", "evidence": [ { "id": "rs3388781696", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388781696" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "744", "end_pos": "744", "site_lbl": "Ser744", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912483", "evidence": [ { "id": "rs3395675550", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3395675550" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "783", "end_pos": "783", "site_lbl": "Lys783", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912601", "evidence": [ { "id": "rs3388781660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388781660" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "792", "end_pos": "792", "site_lbl": "Thr792", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912626", "evidence": [ { "id": "rs3388811132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388811132" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "793", "end_pos": "793", "site_lbl": "Glu793", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912630", "evidence": [ { "id": "rs3388801070", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801070" } ] }, { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912629", "evidence": [ { "id": "rs3388809269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388809269" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "796", "end_pos": "796", "site_lbl": "Lys796", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912640", "evidence": [ { "id": "rs3388811125", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388811125" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "798", "end_pos": "798", "site_lbl": "Leu798", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912644", "evidence": [ { "id": "rs3388820502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388820502" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "799", "end_pos": "799", "site_lbl": "Val799", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912648", "evidence": [ { "id": "rs3388801057", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801057" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "800", "end_pos": "800", "site_lbl": "Arg800", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912650", "evidence": [ { "id": "rs3396453911", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3396453911" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "820", "end_pos": "820", "site_lbl": "Lys820", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912711", "evidence": [ { "id": "rs3388801055", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388801055" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "843", "end_pos": "843", "site_lbl": "Ser843", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912780", "evidence": [ { "id": "rs3388793365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388793365" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "854", "end_pos": "854", "site_lbl": "Leu854", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosylhydrolase.", "chr_id": "5", "chr_pos": "150912812", "evidence": [ { "id": "rs3413072102", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3413072102" } ] } ] }, { "uniprot_canonical_ac": "O35082-1", "start_pos": "869", "end_pos": "869", "site_lbl": "Pro869", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation 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"evidence": [ { "database": "UniProtKB", "id": "Q61166", "url": "https://www.uniprot.org/uniprotkb/Q61166" } ], "pmid": "" }, { "name": "mitotic spindle microtubule", "id": "GO:1990498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990498", "evidence": [ { "database": "UniProtKB", "id": "Q61166", "url": "https://www.uniprot.org/uniprotkb/Q61166" } ], "pmid": "" }, { "name": "mitotic spindle astral microtubule end", "id": "GO:1905721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905721", "evidence": [ { "database": "UniProtKB", "id": "Q61166", "url": "https://www.uniprot.org/uniprotkb/Q61166" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q61166", "url": "https://www.uniprot.org/uniprotkb/Q61166" } ], "pmid": "" }, { "name": "microtubule plus-end binding", "id": "GO:0051010", "url": 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"evidence": [ { "database": "UniProtKB", "id": "Q3UQN2", "url": "https://www.uniprot.org/uniprotkb/Q3UQN2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 809, "chemical_mass": 88734.0, "gene_names": "Fcho2;5832424M12Rik;Fcho2", "protein_name": "F-BAR domain only protein 2", "disease": [ { "disease_id": "DOID:0060894", "name": "early-onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age.", "url": "https://disease-ontology.org/term/DOID:0060894", "evidence": [ { "id": "0060894", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060894" } ], "weight": 0.0 } ], "biological_process": [ { "name": "membrane invagination", "id": "GO:0010324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010324", "evidence": [ { "database": "UniProtKB", "id": "Q3UQN2", "url": 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{ "disease_id": "DOID:14026", "name": "folic acid deficiency anemia", "description": "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis_in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines.", "url": "https://disease-ontology.org/term/DOID:14026", "evidence": [ { "id": "14026", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14026" } ], "weight": 0.0 }, { "disease_id": "DOID:14183", "name": "alcoholic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:14183", "evidence": [ { "id": "14183", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14183" } ], "weight": 0.0 }, { "disease_id": "DOID:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2349", "name": "arteriosclerosis", "description": "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries.", "url": "https://disease-ontology.org/term/DOID:2349", "evidence": [ { "id": "2349", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2349" } ], "weight": 0.0 }, { "disease_id": "DOID:2945", "name": "severe acute respiratory syndrome", "description": "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Severe acute respiratory syndrome coronavirus (SARS-CoV or SARS-CoV-1), a subtype of Betacoronavirus pandemicum, which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.", "url": "https://disease-ontology.org/term/DOID:2945", "evidence": [ { "id": "2945", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2945" } ], "weight": 0.0 }, { "disease_id": "DOID:2987", "name": "familial Mediterranean fever", "description": "An autoinflammatory disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin.", "url": "https://disease-ontology.org/term/DOID:2987", "evidence": [ { "id": "2987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2987" } ], "weight": 0.0 }, { "disease_id": "DOID:3070", "name": "high grade glioma", "description": "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine.", "url": "https://disease-ontology.org/term/DOID:3070", "evidence": [ { "id": "3070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3070" } ], "weight": 0.0 }, { "disease_id": "DOID:3407", "name": "carotid artery disease", "description": "", "url": "https://disease-ontology.org/term/DOID:3407", "evidence": [ { "id": "3407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3407" } ], "weight": 0.0 }, { "disease_id": "DOID:3490", "name": "Noonan syndrome", "description": "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.", "url": "https://disease-ontology.org/term/DOID:3490", "evidence": [ { "id": "3490", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3490" } ], "weight": 0.0 }, { "disease_id": "DOID:3491", "name": "Turner syndrome", "description": "A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome.", "url": "https://disease-ontology.org/term/DOID:3491", "evidence": [ { "id": "3491", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3491" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:4248", "name": "coronary stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4248", "evidence": [ { "id": "4248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4248" } ], "weight": 0.0 }, { "disease_id": "DOID:5154", "name": "borna disease", "description": "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus (Orthobornavirus bornaense), which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment.", "url": "https://disease-ontology.org/term/DOID:5154", "evidence": [ { "id": "5154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5154" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6039", "name": "uveal melanoma", "description": "A uveal cancer that has_material_basis_in uvea pigment cells.", "url": "https://disease-ontology.org/term/DOID:6039", "evidence": [ { "id": "6039", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6039" } ], "weight": 0.0 }, { "disease_id": "DOID:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9521", "name": "Laron syndrome", "description": "A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12.", "url": "https://disease-ontology.org/term/DOID:9521", "evidence": [ { "id": "9521", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9521" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID:987", "name": "alopecia", "description": "A hypotrichosis that is characterized by a loss of hair from the head or body.", "url": "https://disease-ontology.org/term/DOID:987", "evidence": [ { "id": "987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:987" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of Ras protein signal transduction", "id": "GO:0046579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046579", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis", "id": "GO:0060527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060527", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial cell proliferation", "id": "GO:1905564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905564", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "muscle hypertrophy", "id": "GO:0014896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014896", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "myotube cell development", "id": "GO:0014904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014904", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of oocyte development", "id": "GO:0060283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060283", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of trophectodermal cell proliferation", "id": "GO:1904075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904075", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "prostate gland stromal morphogenesis", "id": "GO:0060741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060741", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of glial cell proliferation", "id": "GO:0060252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060252", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of oligodendrocyte apoptotic process", "id": "GO:1900142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900142", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "regulation of establishment or maintenance of cell polarity", "id": "GO:0032878", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032878", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "regulation of translation", "id": "GO:0006417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006417", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "memory", "id": "GO:0007613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007613", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of fat cell differentiation", "id": "GO:0045600", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045600", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "lung alveolus development", "id": "GO:0048286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048286", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "blood vessel remodeling", "id": "GO:0001974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001974", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of interleukin-1 beta production", "id": "GO:0032691", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032691", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of tumor necrosis factor production", "id": "GO:0032720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032720", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "regulation of calcium ion transport", "id": 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"circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of ERK1 and ERK2 cascade", "id": "GO:0070373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070373", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904707", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "insulin receptor signaling pathway", "id": "GO:0008286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008286", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of blood vessel endothelial cell migration", "id": "GO:0043536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": 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of ligand", "id": "GO:0097192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097192", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "chondroitin sulfate proteoglycan biosynthetic process", "id": "GO:0050650", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050650", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration", "id": "GO:0014834", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014834", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "growth hormone receptor signaling pathway", "id": "GO:0060396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060396", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "lung vasculature development", "id": "GO:0060426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060426", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "retinal cell apoptotic process", "id": "GO:1990009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990009", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of myoblast proliferation", "id": "GO:2000288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000288", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of steroid hormone biosynthetic process", "id": "GO:0090031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090031", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of immune system process", "id": "GO:0002683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002683", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "myotube differentiation", "id": "GO:0014902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014902", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of mitotic nuclear division", "id": "GO:0045840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045840", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "myoblast proliferation", "id": "GO:0051450", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051450", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell migration", "id": "GO:0014911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014911", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "proteoglycan biosynthetic process", "id": "GO:0030166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030166", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "glial cell differentiation", "id": "GO:0010001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010001", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "regulation of nitric oxide biosynthetic process", "id": "GO:0045428", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045428", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050732", "evidence": [ { "database": "UniProtKB", "id": "P05017", "url": "https://www.uniprot.org/uniprotkb/P05017" } ], "pmid": "" }, { "name": "positive regulation of cerebellar granule cell precursor proliferation", "id": 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"kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q80TV8", "url": "https://www.uniprot.org/uniprotkb/Q80TV8" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q80TV8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q80TV8" } ] } ] }, { "uniprot_canonical_ac": "Q80TV8-1", "start_pos": "1082", "end_pos": "1082", "site_lbl": "Ser1082", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (SNT->NNT).", "chr_id": "1", "chr_pos": "118488790", "evidence": [ { "id": "rs3388493247", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388493247" } ] } ] } ], "record_id": "Q80TV8-1" }, { "uniprot_canonical_ac": "Q8BMD2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": 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by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.", "url": "https://disease-ontology.org/term/DOID:12270", "evidence": [ { "id": "12270", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12270" } ], "weight": 0.0 }, { "disease_id": "DOID:988", "name": "mitral valve prolapse", "description": "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.", "url": "https://disease-ontology.org/term/DOID:988", "evidence": [ { "id": "988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:988" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "molecular adaptor activity", "id": "GO:0060090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060090", "evidence": [ { "database": "UniProtKB", "id": "Q8BMD2", "url": "https://www.uniprot.org/uniprotkb/Q8BMD2" } ], "pmid": "" }, { "name": "zinc ion binding", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0071897", "evidence": [ { "database": "UniProtKB", "id": "P33609", "url": "https://www.uniprot.org/uniprotkb/P33609" } ], "pmid": "" }, { "name": "DNA strand elongation involved in DNA replication", "id": "GO:0006271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006271", "evidence": [ { "database": "UniProtKB", "id": "P33609", "url": "https://www.uniprot.org/uniprotkb/P33609" } ], "pmid": "" }, { "name": "leading strand elongation", "id": "GO:0006272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006272", "evidence": [ { "database": "UniProtKB", "id": "P33609", "url": "https://www.uniprot.org/uniprotkb/P33609" } ], "pmid": "" }, { "name": "lagging strand elongation", "id": "GO:0006273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006273", "evidence": [ { "database": "UniProtKB", "id": "P33609", "url": "https://www.uniprot.org/uniprotkb/P33609" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": 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complex", "id": "GO:0005658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005658", "evidence": [ { "database": "UniProtKB", "id": "P33609", "url": "https://www.uniprot.org/uniprotkb/P33609" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P33609", "url": "https://www.uniprot.org/uniprotkb/P33609" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "P33609", "url": "https://www.uniprot.org/uniprotkb/P33609" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P33609", "url": "https://www.uniprot.org/uniprotkb/P33609" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", 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"Dtx1;Dtx1;Fxit1;mKIAA4160", "protein_name": "E3 ubiquitin-protein ligase DTX1", "disease": [], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q61010", "url": "https://www.uniprot.org/uniprotkb/Q61010" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q61010", "url": "https://www.uniprot.org/uniprotkb/Q61010" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q61010", "url": "https://www.uniprot.org/uniprotkb/Q61010" } ], "pmid": "" } ], "biological_process": [ { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q61010", "url": "https://www.uniprot.org/uniprotkb/Q61010" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "Q61010", "url": "https://www.uniprot.org/uniprotkb/Q61010" } ], "pmid": "" }, { "name": "cellular response to leukemia inhibitory factor", "id": "GO:1990830", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990830", "evidence": [ { "database": "UniProtKB", "id": "Q61010", "url": "https://www.uniprot.org/uniprotkb/Q61010" } ], "pmid": "" }, { "name": "protein ubiquitination", "id": "GO:0016567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "Q61010", "url": "https://www.uniprot.org/uniprotkb/Q61010" } ], "pmid": "" }, { "name": "glial cell differentiation", "id": "GO:0010001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010001", "evidence": [ { "database": "UniProtKB", "id": "Q61010", "url": "https://www.uniprot.org/uniprotkb/Q61010" } ], "pmid": "" }, { "name": "negative regulation of T cell differentiation", "id": "GO:0045581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045581", "evidence": [ { "database": "UniProtKB", "id": "Q61010", "url": "https://www.uniprot.org/uniprotkb/Q61010" } ], "pmid": "" }, { "name": "regulation of Notch signaling pathway", "id": "GO:0008593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008593", "evidence": [ { "database": "UniProtKB", "id": "Q61010", "url": "https://www.uniprot.org/uniprotkb/Q61010" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q61010", "url": "https://www.uniprot.org/uniprotkb/Q61010" } ], "pmid": "" }, { "name": "SH3 domain binding", "id": "GO:0017124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017124", "evidence": [ { "database": "UniProtKB", "id": "Q61010", "url": "https://www.uniprot.org/uniprotkb/Q61010" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "Q61010", "url": "https://www.uniprot.org/uniprotkb/Q61010" } ], "pmid": "" }, { "name": "Notch binding", "id": "GO:0005112", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005112", "evidence": [ { "database": "UniProtKB", "id": "Q61010", "url": "https://www.uniprot.org/uniprotkb/Q61010" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "Q61010", "url": "https://www.uniprot.org/uniprotkb/Q61010" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q61010-1", "start_pos": "274", "end_pos": "274", "site_lbl": "Thr274", "weight": 0.0, "glycosylation": [ { 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"end_pos": 295, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr295", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] } ], "record_id": "Q61010-1" }, { "uniprot_canonical_ac": "Q8CGS6-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CGS6", "url": "https://www.uniprot.org/uniprotkb/Q8CGS6" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 2544, "chemical_mass": 280714.0, "gene_names": "Polq;A430110D14Rik;Chaos1;Polq", "protein_name": "DNA polymerase theta", "disease": [], "molecular_function": [ { "name": "DNA-directed DNA polymerase activity", "id": "GO:0003887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003887", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS6", "url": "https://www.uniprot.org/uniprotkb/Q8CGS6" } ], "pmid": "" }, { "name": "5'-deoxyribose-5-phosphate lyase activity", "id": "GO:0051575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051575", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS6", "url": "https://www.uniprot.org/uniprotkb/Q8CGS6" } ], "pmid": "" }, { "name": "RNA-directed DNA polymerase activity", "id": "GO:0003964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003964", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS6", "url": "https://www.uniprot.org/uniprotkb/Q8CGS6" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS6", "url": "https://www.uniprot.org/uniprotkb/Q8CGS6" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q8CGS6", "url": "https://www.uniprot.org/uniprotkb/Q8CGS6" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": 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"https://www.alliancegenome.org/disease/DOID:0070037" } ], "weight": 0.0 }, { "disease_id": "DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.", "url": "https://disease-ontology.org/term/DOID:1059", "evidence": [ { "id": "1059", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ], "weight": 0.0 }, { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:14250", "name": "Down syndrome", "description": "A chromosomal duplication syndrome that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability.", "url": "https://disease-ontology.org/term/DOID:14250", "evidence": [ { "id": "14250", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14250" } ], "weight": 0.0 }, { "disease_id": "DOID:1591", "name": "renovascular hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:1591", "evidence": [ { "id": "1591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1591" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of RNA splicing", "id": "GO:0033120", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033120", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "peptidyl-tyrosine phosphorylation", "id": "GO:0018108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018108", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "double-strand break repair via nonhomologous end joining", "id": "GO:0006303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006303", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "negative regulation of mRNA splicing, via spliceosome", "id": "GO:0048025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048025", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "peptidyl-serine phosphorylation", "id": "GO:0018105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018105", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000724", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "negative regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043518", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "positive regulation of double-strand break repair", "id": "GO:2000781", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000781", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "regulation of cardiac muscle cell proliferation", "id": "GO:0060043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060043", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "calcineurin-NFAT signaling cascade", "id": "GO:0033173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033173", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "regulation of alternative mRNA splicing, via spliceosome", "id": "GO:0000381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000381", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "negative regulation of microtubule polymerization", "id": "GO:0031115", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031115", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "regulation of amyloid-beta formation", "id": "GO:1902003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902003", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "regulation of cell growth involved in cardiac muscle cell development", "id": "GO:0061050", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061050", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "negative regulation of heterochromatin formation", "id": "GO:0031452", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031452", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "regulation of neurofibrillary tangle assembly", "id": "GO:1902996", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902996", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q61214", "url": "https://www.uniprot.org/uniprotkb/Q61214" } ], "pmid": "" }, { "name": "protein kinase activity", "id": 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protein localization", "id": "GO:0032880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032880", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "collateral sprouting", "id": "GO:0048668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048668", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "protein localization to nucleus", "id": "GO:0034504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034504", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "dendrite morphogenesis", "id": "GO:0048813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048813", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "Wnt signaling pathway, planar cell polarity pathway", "id": "GO:0060071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060071", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "P51141", "url": "https://www.uniprot.org/uniprotkb/P51141" } ], "pmid": "" }, { "name": "regulation of protein 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development", "id": "GO:0021510", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021510", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "regulation of growth", "id": "GO:0040008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040008", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "inner ear morphogenesis", "id": "GO:0042472", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "skeletal muscle tissue growth", "id": "GO:0048630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048630", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "regulation of blood pressure", "id": "GO:0008217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008217", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "positive regulation of Notch signaling pathway", "id": "GO:0045747", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045747", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "retina development in camera-type eye", "id": "GO:0060041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060041", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "proximal/distal pattern formation", "id": "GO:0009954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009954", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "positive regulation of skeletal muscle tissue growth", "id": "GO:0048633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048633", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis", "id": "GO:0072583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072583", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "left/right axis specification", "id": "GO:0070986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070986", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "organ growth", "id": "GO:0035265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035265", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "positive regulation of endocytosis", "id": "GO:0045807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045807", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "proximal tubule development", "id": "GO:0072014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072014", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "negative regulation of Notch signaling pathway", "id": "GO:0045746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045746", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "neuron fate specification", "id": "GO:0048665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048665", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "regulation of neurogenesis", "id": "GO:0050767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050767", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "neuronal stem cell population maintenance", "id": "GO:0097150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097150", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "astrocyte development", "id": "GO:0014002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014002", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "somite specification", "id": "GO:0001757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001757", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "regulation of vascular endothelial growth factor receptor signaling pathway", "id": "GO:0030947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030947", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "regulation of somitogenesis", "id": "GO:0014807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014807", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "negative regulation of myeloid cell differentiation", "id": "GO:0045638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045638", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "regulation of vascular endothelial growth factor signaling pathway", "id": "GO:1900746", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900746", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "type B pancreatic cell development", "id": "GO:0003323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003323", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "marginal zone B cell differentiation", "id": "GO:0002315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002315", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell differentiation", "id": "GO:2000726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000726", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "compartment pattern specification", "id": "GO:0007386", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007386", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell differentiation", "id": "GO:0030857", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030857", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "negative regulation of glial cell apoptotic process", "id": "GO:0034351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034351", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "regulation of cell division", "id": "GO:0051302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051302", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "auditory receptor cell fate commitment", "id": "GO:0009912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009912", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "adherens junction", "id": "GO:0005912", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005912", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" } ], "molecular_function": [ { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" } ], "pmid": "" }, { "name": "Notch binding", "id": 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"Q61483-1", "start_pos": "476", "end_pos": "476", "site_lbl": "Asn476", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G86182NS", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NCSAPVSR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 476, "start_aa": "Asn", "end_pos": 476, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn476", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 476, "start_aa": "Asn", "end_pos": 476, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn476", "evidence": [ { "id": "Q61483", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q61483#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q61483-1", "start_pos": "83", "end_pos": "83", "site_lbl": "Thr83", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 83, "start_aa": "Thr", "end_pos": 83, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr83", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q61483-1", "start_pos": "638", "end_pos": "638", "site_lbl": "Thr638", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" }, { "database": "PubMed", "id": "24449764", "url": "https://glygen.org/publication/PubMed/24449764" }, { "database": "iPTMnet", "id": "Q61483", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61483" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "V", "comment": "Not phosphorylated; when associated with A-693 and A-696. Not phosphorylated and doesn't prevent phosphorylation at S-693 and S-696. Reduces NOTCH1 transactivation; when associated with A-693 and A-696. Reduces cell surface levels of proteins; when associated with A-693 and A-696. Increases ectodomain shedding; when associated with A-693 and A-696.", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" }, { "database": "PubMed", "id": "24449764", "url": "https://glygen.org/publication/PubMed/24449764" } ] } ] }, { "uniprot_canonical_ac": "Q61483-1", "start_pos": "693", "end_pos": "693", "site_lbl": "Ser693", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" }, { "database": "iPTMnet", "id": "Q61483", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61483" }, { "database": "PubMed", "id": "24449764", "url": "https://glygen.org/publication/PubMed/24449764" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Not phosphorylated; when associated with V-638 and A-696. Not phosphorylated and prevents phosphorylation at S-696. Reduces NOTCH1 transactivation; when associated with V-638 and A-696. Reduces cell surface levels of proteins; when associated with V-638 and A-696. Increases ectodomain shedding; when associated with V-638 and A-696.", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" }, { "database": "PubMed", "id": "24449764", "url": "https://glygen.org/publication/PubMed/24449764" } ] } ] }, { "uniprot_canonical_ac": "Q61483-1", "start_pos": "696", "end_pos": "696", "site_lbl": "Ser696", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" }, { "database": "PubMed", "id": "24449764", "url": "https://glygen.org/publication/PubMed/24449764" }, { "database": "iPTMnet", "id": "Q61483", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q61483" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Not phosphorylated; when associated with V-638 and A-693. Not phosphorylated and doesn't prevent phosphorylation at T-638 and S-693, Reduces NOTCH1 transactivation; when associated with V-638 and A-693. Reduces cell surface levels of proteins; when associated with V-638 and A-693. Increases ectodomain shedding; when associated with V-638 and A-693.", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" }, { "database": "PubMed", "id": "24449764", "url": "https://glygen.org/publication/PubMed/24449764" } ] } ] }, { "uniprot_canonical_ac": "Q61483-1", "start_pos": "613", "end_pos": "613", "site_lbl": "Lys613", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Highly decreases Notch signaling pathway. Multi-ubiquitination pattern is reduced, although it does appear to be mono-ubiquitinated. Interacts with MIB1. Loss of cis and trans interaction with NOTCH1. Increases its association with lipid raft microdomains.", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" }, { "database": "PubMed", "id": "21985982", "url": "https://glygen.org/publication/PubMed/21985982" } ] } ] }, { "uniprot_canonical_ac": "Q61483-1", "start_pos": "689", "end_pos": "689", "site_lbl": "Lys689", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Decreases Notch signaling pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q61483", "url": "https://www.uniprot.org/uniprotkb/Q61483" }, { "database": "PubMed", "id": "21985982", "url": "https://glygen.org/publication/PubMed/21985982" } ] } ] }, { "uniprot_canonical_ac": "Q61483-1", "start_pos": "699", "end_pos": "699", "site_lbl": "Lys699", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Decreases Notch signaling pathway.", "evidence": [ { "database": "UniProtKB", "id": "Q61483", 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"https://www.alliancegenome.org/disease/DOID:1933" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2920", "name": "membranoproliferative glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:2920", "evidence": [ { "id": "2920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2920" } ], "weight": 0.0 }, { "disease_id": "DOID:2921", "name": "glomerulonephritis", "description": "A nephritis that causes inflammation of the glomeruli located_in kidney.", "url": "https://disease-ontology.org/term/DOID:2921", "evidence": [ { "id": "2921", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2921" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3827", "name": "congenital diaphragmatic hernia", "description": "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs.", "url": "https://disease-ontology.org/term/DOID:3827", "evidence": [ { "id": "3827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3827" } ], "weight": 0.0 }, { "disease_id": "DOID:4467", "name": "clear cell renal cell carcinoma", "description": "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope.", "url": "https://disease-ontology.org/term/DOID:4467", "evidence": [ { "id": "4467", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4467" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "internal protein amino acid acetylation", "id": "GO:0006475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006475", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": 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"https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of protein acetylation", "id": "GO:1901985", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901985", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of hydrogen peroxide-mediated programmed cell death", "id": "GO:1901300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901300", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "negative regulation of chromosome condensation", "id": "GO:1902340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902340", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of cellular response to hypoxia", "id": "GO:1900039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900039", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "negative regulation of miRNA metabolic process", "id": "GO:2000629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000629", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of protein phosphorylation", "id": "GO:0001934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001934", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "regulation of glycolytic process", "id": "GO:0006110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006110", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "lipid biosynthetic process", "id": "GO:0008610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008610", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "response to calcium ion", "id": "GO:0051592", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051592", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "regulation of angiotensin metabolic process", "id": "GO:0060177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060177", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of protein secretion", "id": "GO:0050714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050714", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "gluconeogenesis", "id": "GO:0006094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006094", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030511", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "somitogenesis", "id": "GO:0001756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001756", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "negative regulation of protein-containing complex assembly", "id": "GO:0031333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031333", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "megakaryocyte development", "id": "GO:0035855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035855", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "response to glucose", "id": "GO:0009749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009749", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of axon extension", "id": "GO:0045773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045773", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of cell size", "id": "GO:0045793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045793", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "platelet formation", "id": "GO:0030220", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030220", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of cell growth involved in cardiac muscle cell development", "id": "GO:0061051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061051", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "negative regulation of gluconeogenesis", "id": "GO:0045721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045721", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "regulation of androgen receptor signaling pathway", "id": "GO:0060765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060765", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of proteolysis", "id": "GO:0045862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045862", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "internal peptidyl-lysine acetylation", "id": "GO:0018393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018393", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "negative regulation of apoptotic signaling pathway", "id": "GO:2001234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001234", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "regulation of mitochondrion organization", "id": "GO:0010821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein acetylation", "id": "GO:0006473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006473", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "N-terminal peptidyl-lysine acetylation", "id": "GO:0018076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018076", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "TORC2 signaling", "id": "GO:0038203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038203", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "skeletal muscle tissue development", "id": "GO:0007519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "host-mediated activation of viral transcription", "id": "GO:0043923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043923", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "peptidyl-lysine acetylation", "id": "GO:0018394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018394", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "cellular response to L-leucine", "id": "GO:0071233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071233", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of sarcomere organization", "id": "GO:0060298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060298", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway via JAK-STAT", "id": "GO:0007259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007259", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of glycoprotein biosynthetic process", "id": "GO:0010560", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010560", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein localization to chromatin", "id": "GO:0071168", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071168", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "endodermal cell differentiation", "id": "GO:0035987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035987", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "tricarboxylic acid metabolic process", "id": "GO:0072350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072350", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of TORC2 signaling", "id": "GO:1904515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904515", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "response to dexamethasone", "id": "GO:0071548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071548", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein-DNA complex assembly", "id": "GO:0065004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065004", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of T-helper 17 cell lineage commitment", "id": "GO:2000330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000330", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "positive regulation of muscle atrophy", "id": "GO:0014737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014737", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "negative regulation of protein oligomerization", "id": "GO:0032460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032460", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "thigmotaxis", "id": "GO:0001966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001966", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "behavioral defense response", "id": "GO:0002209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002209", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "swimming", "id": "GO:0036268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036268", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "DNA repair-dependent chromatin remodeling", "id": "GO:0140861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140861", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" } ], "molecular_function": [ { "name": "STAT family protein binding", "id": "GO:0097677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097677", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein-lysine-acetyltransferase activity", "id": "GO:0061733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061733", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein propionyltransferase activity", "id": "GO:0061920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061920", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "pre-mRNA intronic binding", "id": "GO:0097157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097157", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "peptide butyryltransferase activity", "id": "GO:0140065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140065", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "histone crotonyltransferase activity", "id": "GO:0140068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140068", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "histone butyryltransferase activity", "id": "GO:0140069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140069", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "nuclear glucocorticoid receptor binding", "id": "GO:0035259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035259", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "mitogen-activated protein kinase binding", "id": "GO:0051019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051019", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "NF-kappaB binding", "id": "GO:0051059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051059", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": 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"id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "peroxisome proliferator activated receptor binding", "id": "GO:0042975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042975", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "nuclear androgen receptor binding", "id": "GO:0050681", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050681", "evidence": [ { "database": "UniProtKB", "id": "B2RWS6", "url": "https://www.uniprot.org/uniprotkb/B2RWS6" } ], "pmid": "" }, { "name": "transcription coactivator binding", 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"https://disease-ontology.org/term/DOID:11981", "evidence": [ { "id": "11981", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "DOID:12337", "name": "varicocele", "description": "", "url": "https://disease-ontology.org/term/DOID:12337", "evidence": [ { "id": "12337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12337" } ], "weight": 0.0 }, { "disease_id": "DOID:12510", "name": "retinal ischemia", "description": "An ischemia that is characterized by restriction in blood supply to the retina.", "url": "https://disease-ontology.org/term/DOID:12510", "evidence": [ { "id": "12510", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12510" } ], "weight": 0.0 }, { "disease_id": "DOID:13413", "name": "hepatic encephalopathy", "description": "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that 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metastasis.", "url": "https://disease-ontology.org/term/DOID:162", "evidence": [ { "id": "162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:162" } ], "weight": 0.0 }, { "disease_id": "DOID:2154", "name": "nephroblastoma", "description": "A kidney cancer that affects the kidneys and typically occuring in children.", "url": "https://disease-ontology.org/term/DOID:2154", "evidence": [ { "id": "2154", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2154" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:2746", "name": "glycogen storage disease V", "description": "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13.", "url": 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located_in the brain, resulting from inadequate blood flow through the brain.", "url": "https://disease-ontology.org/term/DOID:3454", "evidence": [ { "id": "3454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3454" } ], "weight": 0.0 }, { "disease_id": "DOID:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID:3526", "name": "cerebral infarction", "description": "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain.", "url": "https://disease-ontology.org/term/DOID:3526", "evidence": [ { "id": "3526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3526" } ], "weight": 0.0 }, { "disease_id": "DOID:369", "name": "olfactory neuroblastoma", "description": "", "url": "https://disease-ontology.org/term/DOID:369", "evidence": [ { "id": "369", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:369" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4449", "name": "macular retinal edema", "description": "", "url": "https://disease-ontology.org/term/DOID:4449", "evidence": [ { "id": "4449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4449" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:576", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine.", "url": "https://disease-ontology.org/term/DOID:576", "evidence": [ { "id": "576", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:576" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8691", "name": "mycosis fungoides", "description": "", "url": "https://disease-ontology.org/term/DOID:8691", "evidence": [ { "id": "8691", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8691" } ], "weight": 0.0 }, { "disease_id": "DOID:8717", "name": "decubitus ulcer", "description": "A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure.", "url": "https://disease-ontology.org/term/DOID:8717", "evidence": [ { "id": "8717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8717" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:8923", "name": "skin melanoma", "description": "A skin cancer that has_material_basis_in melanocytes.", "url": "https://disease-ontology.org/term/DOID:8923", "evidence": [ { "id": "8923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8923" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of reactive oxygen species biosynthetic process", "id": "GO:1903427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903427", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "intestinal epithelial cell maturation", "id": "GO:0060574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060574", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of sprouting angiogenesis", "id": "GO:1903672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903672", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of mesenchymal cell apoptotic process", "id": "GO:2001054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001054", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cardiac ventricle morphogenesis", "id": "GO:0003208", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003208", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "embryonic hemopoiesis", "id": "GO:0035162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035162", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of vascular wound healing", "id": "GO:0035470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035470", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of glycolytic process", "id": "GO:0006110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006110", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "muscle cell cellular homeostasis", "id": "GO:0046716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046716", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "intracellular iron ion homeostasis", "id": "GO:0006879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006879", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor production", "id": "GO:0010575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010575", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell migration", "id": "GO:0010595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010595", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cerebral cortex development", "id": "GO:0021987", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021987", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion involved in cellular response to glucose stimulus", "id": "GO:0035774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035774", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "blood vessel morphogenesis", "id": "GO:0048514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048514", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of catalytic activity", "id": "GO:0050790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050790", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of thymocyte apoptotic process", "id": "GO:0070244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070244", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "blood vessel development", "id": "GO:0001568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001568", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "B-1 B cell homeostasis", "id": "GO:0001922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001922", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of TOR signaling", "id": "GO:0032007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032007", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": "GO:0045821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045821", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "response to muscle activity", "id": "GO:0014850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014850", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of erythrocyte differentiation", "id": "GO:0045648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045648", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "retina vasculature development in camera-type eye", "id": "GO:0061298", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061298", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "lactation", "id": "GO:0007595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007595", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of blood vessel endothelial cell migration", "id": "GO:0043536", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043536", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "vascular endothelial growth factor production", "id": "GO:0010573", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010573", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of vasoconstriction", "id": "GO:0045906", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045906", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "response to iron ion", "id": "GO:0010039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010039", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of epithelial cell migration", "id": "GO:0010634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010634", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of vascular endothelial growth factor receptor signaling pathway", "id": "GO:0030949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030949", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of hormone biosynthetic process", "id": "GO:0046886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046886", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "hemoglobin biosynthetic process", "id": "GO:0042541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042541", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of bone mineralization", "id": "GO:0030502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030502", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of gluconeogenesis", "id": "GO:0045722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045722", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "intracellular oxygen homeostasis", "id": "GO:0032364", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032364", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of chemokine-mediated signaling pathway", "id": "GO:0070101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070101", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of growth", "id": "GO:0045926", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045926", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "neural fold elevation formation", "id": "GO:0021502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021502", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "response to fungicide", "id": "GO:0060992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060992", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of cytokine production involved in inflammatory response", "id": "GO:1900017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900017", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "dopaminergic neuron differentiation", "id": "GO:0071542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071542", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "hypoxia-inducible factor-1alpha signaling pathway", "id": "GO:0097411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097411", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "iron import into the mitochondrion", "id": "GO:0048250", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048250", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "epithelial cell differentiation involved in mammary gland alveolus development", "id": "GO:0061030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061030", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "iris morphogenesis", "id": "GO:0061072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061072", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of thymocyte apoptotic process", "id": "GO:0070243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070243", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "lactate metabolic process", "id": "GO:0006089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006089", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "connective tissue replacement involved in inflammatory response wound healing", "id": "GO:0002248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002248", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "axonal transport of mitochondrion", "id": "GO:0019896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019896", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of transforming growth factor beta2 production", "id": "GO:0032909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032909", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "collagen metabolic process", "id": "GO:0032963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032963", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "elastin metabolic process", "id": "GO:0051541", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051541", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway", "id": "GO:1903377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903377", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "negative regulation of miRNA transcription", "id": "GO:1902894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902894", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of stress granule assembly", "id": "GO:0062029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062029", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "regulation of protein neddylation", "id": "GO:2000434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000434", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "circulatory system development", "id": "GO:0072359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072359", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "tube development", "id": "GO:0035295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035295", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "epithelial cell maturation", "id": "GO:0002070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002070", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "tissue remodeling", "id": "GO:0048771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048771", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "positive regulation of multicellular organismal process", "id": "GO:0051240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051240", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": "https://www.uniprot.org/uniprotkb/Q61221" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "Q61221", "url": 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"https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "mRNA catabolic process", "id": "GO:0006402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006402", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "endoplasmic reticulum unfolded protein response", "id": "GO:0030968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030968", 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"https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "regulation of protein ubiquitination", "id": "GO:0031396", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031396", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "cellular response to unfolded protein", "id": "GO:0034620", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034620", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "positive regulation of microtubule nucleation", "id": "GO:0090063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090063", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "cellular heat acclimation", "id": "GO:0070370", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070370", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway", "id": "GO:0070434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070434", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" } ], "molecular_function": [ { "name": "denatured protein binding", "id": "GO:0031249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031249", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "C3HC4-type RING finger domain binding", "id": "GO:0055131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055131", "evidence": [ { "database": "UniProtKB", "id": "Q61696", "url": "https://www.uniprot.org/uniprotkb/Q61696" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": 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"pmid": "" }, { "name": "positive regulation of organ growth", "id": "GO:0046622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046622", "evidence": [ { "database": "UniProtKB", "id": "P09535", "url": "https://www.uniprot.org/uniprotkb/P09535" } ], "pmid": "" }, { "name": "insulin-like growth factor receptor signaling pathway", "id": "GO:0048009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048009", "evidence": [ { "database": "UniProtKB", "id": "P09535", "url": "https://www.uniprot.org/uniprotkb/P09535" } ], "pmid": "" }, { "name": "striated muscle cell differentiation", "id": "GO:0051146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051146", "evidence": [ { "database": "UniProtKB", "id": "P09535", "url": "https://www.uniprot.org/uniprotkb/P09535" } ], "pmid": "" }, { "name": "negative regulation of natural killer cell mediated cytotoxicity", "id": "GO:0045953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045953", "evidence": [ { "database": "UniProtKB", "id": "P09535", "url": "https://www.uniprot.org/uniprotkb/P09535" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "P09535", "url": "https://www.uniprot.org/uniprotkb/P09535" } ], "pmid": "" }, { "name": "positive regulation of activated T cell proliferation", "id": "GO:0042104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042104", "evidence": [ { "database": "UniProtKB", "id": "P09535", "url": "https://www.uniprot.org/uniprotkb/P09535" } ], "pmid": "" }, { "name": "positive regulation of multicellular organism growth", "id": "GO:0040018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040018", "evidence": [ { "database": "UniProtKB", "id": "P09535", "url": "https://www.uniprot.org/uniprotkb/P09535" } ], "pmid": "" }, { "name": "positive regulation of steroid hormone biosynthetic process", "id": "GO:0090031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090031", "evidence": [ { "database": "UniProtKB", "id": "P09535", "url": "https://www.uniprot.org/uniprotkb/P09535" } ], "pmid": "" }, { "name": "negative regulation of muscle cell differentiation", "id": "GO:0051148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051148", "evidence": [ { "database": "UniProtKB", "id": "P09535", "url": "https://www.uniprot.org/uniprotkb/P09535" } ], "pmid": "" }, { "name": "positive regulation of mitotic nuclear division", "id": "GO:0045840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045840", "evidence": [ { "database": "UniProtKB", "id": "P09535", "url": "https://www.uniprot.org/uniprotkb/P09535" } ], "pmid": "" }, { "name": "spongiotrophoblast cell proliferation", "id": "GO:0060720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060720", "evidence": [ { "database": "UniProtKB", "id": "P09535", "url": "https://www.uniprot.org/uniprotkb/P09535" } ], "pmid": "" }, { "name": "embryonic placenta morphogenesis", "id": "GO:0060669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060669", "evidence": [ { "database": "UniProtKB", "id": "P09535", "url": "https://www.uniprot.org/uniprotkb/P09535" } ], "pmid": "" }, { "name": "exocrine pancreas development", "id": "GO:0031017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031017", "evidence": [ { "database": "UniProtKB", "id": "P09535", "url": "https://www.uniprot.org/uniprotkb/P09535" } ], "pmid": "" }, { "name": "regulation of muscle cell differentiation", "id": "GO:0051147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051147", "evidence": [ { "database": "UniProtKB", "id": "P09535", "url": "https://www.uniprot.org/uniprotkb/P09535" } ], "pmid": "" }, { "name": "response to 2,3,7,8-tetrachlorodibenzodioxine", "id": "GO:1904612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904612", "evidence": [ { "database": "UniProtKB", "id": "P09535", "url": "https://www.uniprot.org/uniprotkb/P09535" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": 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The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0061096", "name": "immunodeficiency 133", "description": "A primary immunodeficiency disease that is characterized immunodeficiency manifest as combined immunodeficiency (CID) or common variable immunodeficiency (CVID) and features of ectodermal dysplasia, notably dysmorphic conical incisors and sparse hair, and that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21.", "url": "https://disease-ontology.org/term/DOID:0061096", "evidence": [ { "id": "0061096", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061096" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", "description": "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy.", "url": "https://disease-ontology.org/term/DOID:10591", "evidence": [ { "id": "10591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10591" } ], "weight": 0.0 }, { "disease_id": "DOID:10595", "name": "Charcot-Marie-Tooth disease", "description": "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.", "url": "https://disease-ontology.org/term/DOID:10595", "evidence": [ { "id": "10595", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10595" } ], "weight": 0.0 }, { "disease_id": "DOID:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": 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"" }, { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043124", "evidence": [ { "database": "UniProtKB", "id": "P17433", "url": "https://www.uniprot.org/uniprotkb/P17433" } ], "pmid": "" }, { "name": "negative regulation of neutrophil degranulation", "id": "GO:0043314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043314", "evidence": [ { "database": "UniProtKB", "id": "P17433", "url": "https://www.uniprot.org/uniprotkb/P17433" } ], "pmid": "" }, { "name": "negative regulation of non-canonical NF-kappaB signal transduction", "id": "GO:1901223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901223", "evidence": [ { "database": "UniProtKB", "id": "P17433", "url": "https://www.uniprot.org/uniprotkb/P17433" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": 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There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0060643", "name": "primary sclerosing cholangitis", "description": "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension.", "url": "https://disease-ontology.org/term/DOID:0060643", "evidence": [ { "id": "0060643", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060643" } ], "weight": 0.0 }, { "disease_id": "DOID:0080526", "name": "bronchiectasis 1", "description": "A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12.", "url": "https://disease-ontology.org/term/DOID:0080526", "evidence": [ { "id": "0080526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080526" } ], "weight": 0.0 }, { "disease_id": "DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:0111862", "name": "congenital bilateral absence of vas deferens", "description": "A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility.", "url": "https://disease-ontology.org/term/DOID:0111862", "evidence": [ { "id": "0111862", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111862" } ], "weight": 0.0 }, { "disease_id": "DOID:0111864", "name": "autosomal recessive congenital bilateral absence of vas deferens", "description": "A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2.", "url": "https://disease-ontology.org/term/DOID:0111864", "evidence": [ { "id": "0111864", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111864" } ], "weight": 0.0 }, { "disease_id": "DOID:10211", "name": "cholelithiasis", "description": "", "url": "https://disease-ontology.org/term/DOID:10211", "evidence": [ { "id": "10211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10211" } ], "weight": 0.0 }, { "disease_id": "DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID:11132", "name": "prostatic hypertrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:11132", "evidence": [ { "id": "11132", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11132" } ], "weight": 0.0 }, { "disease_id": "DOID:11476", "name": "osteoporosis", "description": "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength.", "url": "https://disease-ontology.org/term/DOID:11476", "evidence": [ { "id": "11476", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11476" } ], "weight": 0.0 }, { "disease_id": "DOID:13166", "name": "allergic bronchopulmonary aspergillosis", "description": "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever.", "url": "https://disease-ontology.org/term/DOID:13166", "evidence": [ { "id": "13166", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13166" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13258", "name": "typhoid fever", "description": "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.", "url": "https://disease-ontology.org/term/DOID:13258", "evidence": [ { "id": "13258", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13258" } ], "weight": 0.0 }, { "disease_id": "DOID:13316", "name": "exocrine pancreatic insufficiency", "description": "A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine.", "url": "https://disease-ontology.org/term/DOID:13316", "evidence": [ { "id": "13316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13316" } ], "weight": 0.0 }, { "disease_id": "DOID:13406", "name": "pulmonary sarcoidosis", "description": "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:13580", "name": "cholestasis", "description": "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum.", "url": "https://disease-ontology.org/term/DOID:13580", "evidence": [ { "id": "13580", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13580" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID:1724", "name": "duodenal ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:1724", "evidence": [ { "id": "1724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1724" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:4988", "name": "alcoholic pancreatitis", "description": "", "url": "https://disease-ontology.org/term/DOID:4988", "evidence": [ { "id": "4988", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4988" } ], "weight": 0.0 }, { "disease_id": "DOID:5733", "name": "salpingitis", "description": "A fallopian tube disease that is characterized by inflammation of the fallopian tube.", "url": "https://disease-ontology.org/term/DOID:5733", "evidence": [ { "id": "5733", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5733" } ], "weight": 0.0 }, { "disease_id": "DOID:693", "name": "dental enamel hypoplasia", "description": "", "url": "https://disease-ontology.org/term/DOID:693", "evidence": [ { "id": "693", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:693" } ], "weight": 0.0 }, { "disease_id": "DOID:77", "name": "gastrointestinal system disease", "description": "A disease of anatomical entity that is located_in the gastrointestinal tract.", "url": "https://disease-ontology.org/term/DOID:77", "evidence": [ { "id": "77", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:77" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9563", "name": "bronchiectasis", "description": "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances.", "url": "https://disease-ontology.org/term/DOID:9563", "evidence": [ { "id": "9563", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9563" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "intracellularly ATP-gated chloride channel activity", "id": "GO:0005260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005260", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "chloride channel inhibitor activity", "id": "GO:0019869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019869", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "protein-folding chaperone binding", "id": "GO:0051087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051087", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "14-3-3 protein binding", "id": "GO:0071889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071889", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "bicarbonate transmembrane transporter activity", "id": "GO:0015106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015106", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "chloride transmembrane transporter activity", "id": "GO:0015108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015108", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "ABC-type transporter activity", "id": "GO:0140359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140359", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "Sec61 translocon complex binding", "id": "GO:0106138", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106138", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "chloride channel complex", "id": "GO:0034707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034707", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to cAMP", "id": "GO:0071320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071320", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "cellular response to forskolin", "id": "GO:1904322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904322", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process", "id": "GO:0006695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006695", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "sperm capacitation", "id": "GO:0048240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048240", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "P26361", "url": "https://www.uniprot.org/uniprotkb/P26361" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": 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development", "id": "GO:0060873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060873", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "lateral semicircular canal development", "id": "GO:0060875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060875", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "cell differentiation involved in kidney development", "id": "GO:0061005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061005", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "regulation of bone development", "id": "GO:1903010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903010", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "spinal cord dorsal/ventral patterning", "id": "GO:0021513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021513", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "tube development", "id": "GO:0035295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035295", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "protein processing", "id": "GO:0016485", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016485", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "negative regulation of DNA-templated transcription", "id": "GO:0045892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045892", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "positive regulation of alpha-beta T cell differentiation", "id": "GO:0046638", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046638", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": "GO:0048566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048566", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "proximal/distal pattern formation", "id": "GO:0009954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009954", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "embryonic morphogenesis", "id": "GO:0048598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048598", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "optic nerve morphogenesis", "id": "GO:0021631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021631", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "spinal cord motor neuron differentiation", "id": "GO:0021522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021522", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte differentiation", "id": "GO:0032332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032332", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "artery development", "id": "GO:0060840", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "roof of mouth development", "id": "GO:0060021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060021", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "cerebral cortex radial glia-guided migration", "id": "GO:0021801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021801", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "layer formation in cerebral cortex", "id": "GO:0021819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021819", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "prostate gland development", "id": "GO:0030850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030850", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "embryonic skeletal system morphogenesis", "id": "GO:0048704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048704", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "inner ear development", "id": "GO:0048839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048839", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "negative thymic T cell selection", "id": "GO:0045060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045060", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "regulation of smoothened signaling pathway", "id": "GO:0008589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008589", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "liver regeneration", "id": "GO:0097421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097421", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "neuron fate commitment", "id": "GO:0048663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048663", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "branching involved in ureteric bud morphogenesis", "id": "GO:0001658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001658", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "limb morphogenesis", "id": "GO:0035108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035108", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "thymocyte apoptotic process", "id": "GO:0070242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070242", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "tongue development", "id": "GO:0043586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043586", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "pallium development", "id": "GO:0021543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021543", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], 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], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "embryonic neurocranium morphogenesis", "id": "GO:0048702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048702", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "Q61602", "url": "https://www.uniprot.org/uniprotkb/Q61602" 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"https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID:0081292", "name": "traumatic brain injury", "description": "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head.", "url": "https://disease-ontology.org/term/DOID:0081292", "evidence": [ { "id": "0081292", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081292" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:1094", "name": "attention deficit hyperactivity 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shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction.", "url": "https://disease-ontology.org/term/DOID:13406", "evidence": [ { "id": "13406", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13406" } ], "weight": 0.0 }, { "disease_id": "DOID:14183", "name": "alcoholic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:14183", "evidence": [ { "id": "14183", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14183" } ], "weight": 0.0 }, { "disease_id": "DOID:14320", "name": "generalized anxiety disorder", "description": "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation.", "url": "https://disease-ontology.org/term/DOID:14320", "evidence": [ { "id": "14320", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14320" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.", "url": "https://disease-ontology.org/term/DOID:1561", "evidence": [ { "id": "1561", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ], "weight": 0.0 }, { "disease_id": "DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:1574", "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:2055", "name": "post-traumatic stress disorder", "description": "An anxiety disorder which results from a traumatic experience that results in psychological trauma.", "url": "https://disease-ontology.org/term/DOID:2055", "evidence": [ { "id": "2055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2055" } ], "weight": 0.0 }, { "disease_id": "DOID:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2560", "name": "morphine dependence", "description": "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2560", "evidence": [ { "id": "2560", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2560" } ], "weight": 0.0 }, { "disease_id": "DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing.", "url": "https://disease-ontology.org/term/DOID:2841", "evidence": [ { "id": "2841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ], "weight": 0.0 }, { "disease_id": "DOID:3082", "name": "interstitial lung disease", "description": "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.", "url": "https://disease-ontology.org/term/DOID:3082", "evidence": [ { "id": "3082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3082" } ], "weight": 0.0 }, { "disease_id": "DOID:3083", "name": "chronic obstructive pulmonary disease", "description": "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both.", "url": "https://disease-ontology.org/term/DOID:3083", "evidence": [ { "id": "3083", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3083" } ], "weight": 0.0 }, { "disease_id": "DOID:3324", "name": "mood disorder", "description": "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature.", "url": "https://disease-ontology.org/term/DOID:3324", "evidence": [ { "id": "3324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3324" } ], "weight": 0.0 }, { "disease_id": "DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.", "url": "https://disease-ontology.org/term/DOID:3393", "evidence": [ { "id": "3393", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4450", "name": "renal cell carcinoma", "description": "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney.", "url": "https://disease-ontology.org/term/DOID:4450", "evidence": [ { "id": "4450", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4450" } ], "weight": 0.0 }, { "disease_id": "DOID:446", "name": "primary hyperaldosteronism", "description": "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands.", "url": "https://disease-ontology.org/term/DOID:446", "evidence": [ { "id": "446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:446" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID:767", "name": "muscular atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:767", "evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:809", "name": "cocaine abuse", "description": "A substance abuse that involves the recurring use of cocaine despite negative consequences.", "url": "https://disease-ontology.org/term/DOID:809", "evidence": [ { "id": "809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:809" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:850", "name": "lung disease", "description": "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.", "url": "https://disease-ontology.org/term/DOID:850", "evidence": [ { "id": "850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:850" } ], "weight": 0.0 }, { "disease_id": "DOID:8689", "name": "anorexia nervosa", "description": "An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image.", "url": "https://disease-ontology.org/term/DOID:8689", "evidence": [ { "id": "8689", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8689" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": 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"chromatin organization", "id": "GO:0006325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006325", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P06537", "url": "https://www.uniprot.org/uniprotkb/P06537" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": 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Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity.", "url": "https://disease-ontology.org/term/DOID:0080328", "evidence": [ { "id": "0080328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080328" } ], "weight": 0.0 }, { "disease_id": "DOID:0110873", "name": "holoprosencephaly 9", "description": "A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14.", "url": "https://disease-ontology.org/term/DOID:0110873", "evidence": [ { "id": "0110873", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110873" } ], "weight": 0.0 }, { "disease_id": "DOID:13608", "name": "biliary atresia", "description": "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.", "url": "https://disease-ontology.org/term/DOID:13608", "evidence": [ { "id": "13608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13608" } ], "weight": 0.0 } ], "biological_process": [ { "name": "mammary gland duct morphogenesis", "id": "GO:0060603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060603", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "ventral midline development", "id": "GO:0007418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007418", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "hindgut morphogenesis", "id": "GO:0007442", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007442", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "epidermal cell differentiation", "id": "GO:0009913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009913", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "cerebellar cortex morphogenesis", "id": "GO:0021696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021696", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "smoothened signaling pathway involved in spinal cord motor neuron cell fate specification", "id": "GO:0021776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021776", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "notochord regression", "id": "GO:0060032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060032", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "floor plate formation", "id": "GO:0021508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021508", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "spinal cord dorsal/ventral patterning", "id": "GO:0021513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021513", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "tube development", "id": "GO:0035295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035295", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "skeletal system development", "id": "GO:0001501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001501", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "osteoblast development", "id": "GO:0002076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002076", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "positive regulation of collagen biosynthetic process", "id": "GO:0032967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032967", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": "GO:0048566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048566", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "proximal/distal pattern formation", "id": "GO:0009954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009954", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "neural tube development", "id": "GO:0021915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021915", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "pituitary gland development", "id": "GO:0021983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021983", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "hindbrain development", "id": "GO:0030902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030902", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "spinal cord motor neuron differentiation", "id": "GO:0021522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021522", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "chondrocyte differentiation", "id": "GO:0002062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002062", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "neuron development", "id": "GO:0048666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048666", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "regulation of smoothened signaling pathway", "id": "GO:0008589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008589", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "positive regulation of DNA replication", "id": "GO:0045740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045740", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "cellular response to virus", "id": "GO:0098586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098586", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "anatomical structure formation involved in morphogenesis", "id": "GO:0048646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048646", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "head development", "id": "GO:0060322", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060322", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "branching morphogenesis of an epithelial tube", "id": "GO:0048754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048754", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "dorsal/ventral neural tube patterning", "id": "GO:0021904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021904", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "spinal cord ventral commissure morphogenesis", "id": "GO:0021965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021965", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "negative regulation of smoothened signaling pathway", "id": "GO:0045879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045879", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "cochlea morphogenesis", "id": "GO:0090103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090103", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "prostatic bud formation", "id": "GO:0060513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060513", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "ventral spinal cord development", "id": "GO:0021517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021517", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity", "id": "GO:0003700", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003700", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "transcription cis-regulatory region binding", "id": "GO:0000976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000976", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "chromatin DNA binding", "id": "GO:0031490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031490", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "Q0VGT2", "url": "https://www.uniprot.org/uniprotkb/Q0VGT2" } ], "pmid": "" }, { "name": "sequence-specific 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"https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4195", "name": "hyperglycemia", "description": "", "url": "https://disease-ontology.org/term/DOID:4195", "evidence": [ { "id": "4195", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4195" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:784", "name": "chronic kidney disease", "description": "A kidney failure that is characterized by the gradual loss of kidney function, present for a minimum of 3 months. CKD is classified based on cause, glomerular filtration rate (GFR) category (G2-G5), and albuminuria category (A1-A3).", "url": "https://disease-ontology.org/term/DOID:784", "evidence": [ { "id": "784", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:784" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:83", "name": "cataract", "description": "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision.", "url": "https://disease-ontology.org/term/DOID:83", "evidence": [ { "id": "83", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:83" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:8778", "name": "Crohn's disease", "description": "An intestinal disease that involves inflammation located_in intestine.", "url": "https://disease-ontology.org/term/DOID:8778", "evidence": [ { "id": "8778", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8778" } ], "weight": 0.0 }, { "disease_id": "DOID:9119", "name": "acute myeloid leukemia", "description": "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells.", "url": "https://disease-ontology.org/term/DOID:9119", "evidence": [ { "id": "9119", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9119" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.", "url": "https://disease-ontology.org/term/DOID:9279", "evidence": [ { "id": "9279", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "skeletal muscle tissue regeneration", "id": "GO:0043403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043403", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "biological process involved in interaction with symbiont", "id": "GO:0051702", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051702", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "response to symbiotic bacterium", "id": "GO:0009609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009609", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "temperature homeostasis", "id": "GO:0001659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001659", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "triglyceride metabolic process", "id": "GO:0006641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006641", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "response to nicotine", "id": "GO:0035094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035094", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "neuron apoptotic process", "id": "GO:0051402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051402", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051897", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "vasodilation", "id": "GO:0042311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042311", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "heart contraction", "id": "GO:0060047", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060047", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "response to hydrogen peroxide", "id": "GO:0042542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042542", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response to antigenic stimulus", "id": "GO:0002862", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002862", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "response to vitamin E", "id": "GO:0033197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033197", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "skeletal muscle fiber development", "id": "GO:0048741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048741", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "response to toxic substance", "id": "GO:0009636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009636", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "response to reactive oxygen species", "id": "GO:0000302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000302", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "response to hormone", "id": "GO:0009725", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009725", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "response to selenium ion", "id": "GO:0010269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010269", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "protein oxidation", "id": "GO:0018158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018158", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "blood vessel endothelial cell migration", "id": "GO:0043534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043534", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "cell redox homeostasis", "id": "GO:0045454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045454", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "hydrogen peroxide catabolic process", "id": "GO:0042744", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042744", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "lipoxygenase pathway", "id": "GO:0019372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019372", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "negative regulation of release of cytochrome c from mitochondria", "id": "GO:0090201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090201", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902176", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:1902042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902042", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "epigenetic regulation of gene expression", "id": "GO:0040029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040029", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "response to folic acid", "id": "GO:0051593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051593", "evidence": [ { "database": "UniProtKB", "id": "P11352", "url": "https://www.uniprot.org/uniprotkb/P11352" } ], "pmid": "" }, { "name": "regulation of mammary gland epithelial cell proliferation", "id": "GO:0033599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033599", "evidence": [ { "database": "UniProtKB", "id": 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ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 }, { "disease_id": "DOID:8991", "name": "cervix uteri carcinoma in situ", "description": "An uterus carcinoma in situ that is located_in the uterine cervix.", "url": "https://disease-ontology.org/term/DOID:8991", "evidence": [ { "id": "8991", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8991" } ], "weight": 0.0 }, { "disease_id": "DOID:9074", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.", "url": "https://disease-ontology.org/term/DOID:9074", "evidence": [ { "id": "9074", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9074" } ], "weight": 0.0 }, { "disease_id": "DOID:916", "name": "liver benign neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:916", "evidence": [ { "id": "916", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:916" } ], "weight": 0.0 }, { "disease_id": "DOID:9206", "name": "Barrett's esophagus", "description": "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium.", "url": "https://disease-ontology.org/term/DOID:9206", "evidence": [ { "id": "9206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9206" } ], "weight": 0.0 }, { "disease_id": "DOID:9282", "name": "ocular hypertension", "description": "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss.", "url": "https://disease-ontology.org/term/DOID:9282", "evidence": [ { "id": "9282", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9282" } ], "weight": 0.0 }, { "disease_id": "DOID:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.", "url": "https://disease-ontology.org/term/DOID:9655", "evidence": [ { "id": "9655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "PCNA-p21 complex", "id": "GO:0070557", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070557", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "cyclin-dependent protein kinase holoenzyme complex", "id": "GO:0000307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000307", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to UV-B", "id": "GO:0071493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071493", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "regulation of DNA biosynthetic process", "id": "GO:2000278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000278", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "regulation of G2/M transition of mitotic cell cycle", "id": "GO:0010389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010389", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "positive regulation of protein kinase activity", "id": "GO:0045860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045860", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "import into nucleus", "id": "GO:0051170", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051170", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "keratinocyte differentiation", "id": "GO:0030216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030216", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "Ras protein signal transduction", "id": "GO:0007265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007265", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "regulation of mitotic cell cycle", "id": "GO:0007346", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007346", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "positive regulation of B cell proliferation", "id": "GO:0030890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030890", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "positive regulation of reactive oxygen species metabolic process", "id": "GO:2000379", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000379", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0000079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000079", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "negative regulation of DNA biosynthetic process", "id": "GO:2000279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000279", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "tissue regeneration", "id": "GO:0042246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042246", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "negative regulation of cyclin-dependent protein serine/threonine kinase activity", "id": "GO:0045736", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045736", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "cellular senescence", "id": "GO:0090398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090398", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "fibroblast proliferation", "id": "GO:0048144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048144", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "cellular response to amino acid starvation", "id": "GO:0034198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034198", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "cellular response to ionizing radiation", "id": "GO:0071479", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071479", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "DNA damage response, signal transduction by p53 class mediator", "id": "GO:0030330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030330", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "mitotic G2 DNA damage checkpoint signaling", "id": "GO:0007095", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007095", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "cellular response to cell-matrix adhesion", "id": "GO:0071460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071460", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "cellular response to gamma radiation", "id": "GO:0071480", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071480", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "regulation of cell cycle G1/S phase transition", "id": "GO:1902806", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902806", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000045", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "positive regulation of programmed cell death", "id": "GO:0043068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043068", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "mitotic G1 DNA damage checkpoint signaling", "id": "GO:0031571", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031571", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "keratinocyte proliferation", "id": "GO:0043616", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043616", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904706", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "P39689", "url": "https://www.uniprot.org/uniprotkb/P39689" } ], "pmid": "" }, { "name": "oncogene-induced cell senescence", "id": "GO:0090402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090402", "evidence": [ { "database": "UniProtKB", 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"http://research.bioinformatics.udel.edu/iptmnet/entry/P28033" }, { "database": "PubMed", "id": "11726507", "url": "https://glygen.org/publication/PubMed/11726507" } ] } ] }, { "uniprot_canonical_ac": "P28033-1", "start_pos": "276", "end_pos": "276", "site_lbl": "Ser276", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "iPTMnet", "id": "P28033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P28033" }, { "database": "PubMed", "id": "1314426", "url": "https://glygen.org/publication/PubMed/1314426" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Reduces phosphorylation in response to calcium.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "1314426", "url": "https://glygen.org/publication/PubMed/1314426" } ] } ] }, { "uniprot_canonical_ac": "P28033-1", "start_pos": "64", "end_pos": "64", "site_lbl": "Ser64", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "P11440-1", "kinase_gene_name": "Cdk1", "evidence": [ { "database": "iPTMnet", "id": "P28033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P28033" }, { "database": "PubMed", "id": "15314150", "url": "https://glygen.org/publication/PubMed/15314150" } ] }, { "kinase_uniprot_canonical_ac": "P97377-1", "kinase_gene_name": "Cdk2", "evidence": [ { "database": "iPTMnet", "id": "P28033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P28033" }, { "database": "PubMed", "id": "15314150", "url": "https://glygen.org/publication/PubMed/15314150" }, { "database": "PubMed", "id": "20730378", "url": "https://glygen.org/publication/PubMed/20730378" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P28033", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P28033" }, { "database": "PubMed", "id": "17433708", "url": "https://glygen.org/publication/PubMed/17433708" } ] } ] }, { "uniprot_canonical_ac": "P28033-1", "start_pos": "101", "end_pos": "101", "site_lbl": "Lys101", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Not acetylated after glucocorticoid-stimulation and no increase of transactivation activity; when associated with R-98 and R-102.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "17301242", "url": "https://glygen.org/publication/PubMed/17301242" } ] } ] }, { "uniprot_canonical_ac": "P28033-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Lys102", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Not acetylated and no increase of transactivation activity after glucocorticoid-stimulation; when associated with R-98 and R-101.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "17301242", "url": "https://glygen.org/publication/PubMed/17301242" } ] } ] }, { "uniprot_canonical_ac": "P28033-1", "start_pos": "133", "end_pos": "133", "site_lbl": "Lys133", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Not sumoylated. Decreases ubiquitination and increases stability. Loss of proliferation inhibition in T cells. No effect on transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "16585579", "url": "https://glygen.org/publication/PubMed/16585579" }, { "database": "PubMed", "id": "24061474", "url": "https://glygen.org/publication/PubMed/24061474" }, { "database": "PubMed", "id": "20194620", "url": "https://glygen.org/publication/PubMed/20194620" } ] } ] }, { "uniprot_canonical_ac": "P28033-1", "start_pos": "135", "end_pos": "135", "site_lbl": "Glu135", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Not sumoylated and not ubiquitinated.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "20194620", "url": "https://glygen.org/publication/PubMed/20194620" } ] } ] }, { "uniprot_canonical_ac": "P28033-1", "start_pos": "215", "end_pos": "215", "site_lbl": "Lys215", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on transactivation activity.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "18486321", "url": "https://glygen.org/publication/PubMed/18486321" } ] } ] }, { "uniprot_canonical_ac": "P28033-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Lys39", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "No effect on interaction with EP300.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "18486321", "url": "https://glygen.org/publication/PubMed/18486321" } ] }, { "sequence_org": "K", "sequence_mut": "Q", "comment": "No effect on interaction with EP300.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "18486321", "url": "https://glygen.org/publication/PubMed/18486321" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Dominant negative. Loss of transactivation activity. No effect on interaction with EP300.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "18486321", "url": "https://glygen.org/publication/PubMed/18486321" } ] } ] }, { "uniprot_canonical_ac": "P28033-1", "start_pos": "98", "end_pos": "98", "site_lbl": "Lys98", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "No effect on transactivation activity. Not acetylated after glucocorticoid-stimulation and no increase of transactivation activity; when associated with R-101 and R-102.", "evidence": [ { "database": "UniProtKB", "id": "P28033", "url": "https://www.uniprot.org/uniprotkb/P28033" }, { "database": "PubMed", "id": "17301242", "url": "https://glygen.org/publication/PubMed/17301242" }, { "database": "PubMed", "id": "18486321", "url": "https://glygen.org/publication/PubMed/18486321" } ] } ] } ], "record_id": "P28033-1" }, { "uniprot_canonical_ac": "P53568-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 150, "chemical_mass": 16400.0, "gene_names": "Cebpg;C/EBP[g];C/EBPgamma;Cebpg;GPE1-BP;Gpe1bp;Ig/EBP", "protein_name": "CCAAT/enhancer-binding protein gamma", "disease": [], "biological_process": [ { "name": "mRNA metabolic process", "id": "GO:0016071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016071", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "enucleate erythrocyte differentiation", "id": "GO:0043353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043353", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "chromatin remodeling", "id": "GO:0006338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006338", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "positive regulation of DNA repair", "id": "GO:0045739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045739", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "positive regulation of type II interferon production", "id": "GO:0032729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032729", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "nucleosome disassembly", "id": "GO:0006337", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006337", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "natural killer cell mediated cytotoxicity", "id": "GO:0042267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042267", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding, bending", "id": "GO:0044377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044377", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "DNA-binding transcription factor binding", "id": "GO:0140297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140297", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulator complex", "id": "GO:0090575", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090575", "evidence": [ { "database": "UniProtKB", "id": "P53568", "url": "https://www.uniprot.org/uniprotkb/P53568" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "P53568-1" }, { "uniprot_canonical_ac": "Q5SS90-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5SS90", "url": "https://www.uniprot.org/uniprotkb/Q5SS90" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 291, "chemical_mass": 32895.0, "gene_names": "Gm11992;Gm11992", "protein_name": "Uncharacterized protein C7orf57 homolog", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q5SS90-1", "start_pos": "286", "end_pos": "286", "site_lbl": "Thr286", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 286, "start_aa": "Thr", "end_pos": 286, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr286", "evidence": [ { "id": "GLY_001153", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001153" } ] } ] }, { "uniprot_canonical_ac": "Q5SS90-1", "start_pos": "50", "end_pos": "50", "site_lbl": "Ser50", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q5SS90", "url": "https://www.uniprot.org/uniprotkb/Q5SS90" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q5SS90", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q5SS90" } ] } ] } ], "record_id": "Q5SS90-1" }, { 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"https://disease-ontology.org/term/DOID:5223", "evidence": [ { "id": "5223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5223" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6364", "name": "migraine", "description": "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.", "url": "https://disease-ontology.org/term/DOID:6364", "evidence": [ { "id": "6364", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6364" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:8029", "name": "sporadic breast cancer", "description": "A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer.", "url": "https://disease-ontology.org/term/DOID:8029", "evidence": [ { "id": "8029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8029" } ], "weight": 0.0 }, { "disease_id": "DOID:8283", "name": "peritonitis", "description": "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output.", "url": "https://disease-ontology.org/term/DOID:8283", "evidence": [ { "id": "8283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8283" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "type 1 metabotropic glutamate receptor binding", "id": "GO:0031798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031798", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "TFIIB-class transcription factor binding", "id": "GO:0001093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001093", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "estrogen response element binding", "id": "GO:0034056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034056", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "ATPase binding", "id": "GO:0051117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051117", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "transcription factor binding", "id": "GO:0008134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008134", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "nuclear steroid receptor activity", "id": "GO:0003707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003707", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "hormone binding", "id": "GO:0042562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042562", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "14-3-3 protein binding", "id": "GO:0071889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071889", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "steroid binding", "id": "GO:0005496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005496", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "transcription coactivator binding", "id": "GO:0001223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001223", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "TBP-class protein binding", "id": "GO:0017025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017025", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "nuclear estrogen receptor activity", "id": "GO:0030284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030284", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase regulatory subunit binding", "id": "GO:0036312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036312", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "transcription coregulator binding", "id": "GO:0001221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001221", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "promoter-specific chromatin binding", "id": "GO:1990841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990841", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "transcription corepressor binding", "id": "GO:0001222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001222", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "estrogen binding", "id": "GO:0099130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099130", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" } ], "biological_process": [ { "name": "antral ovarian follicle growth", "id": "GO:0001547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001547", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "prostate epithelial cord elongation", "id": "GO:0060523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060523", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis", "id": "GO:0060527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060527", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "mammary gland branching involved in pregnancy", "id": "GO:0060745", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060745", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "positive regulation of cytosolic calcium ion concentration", "id": "GO:0007204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007204", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "regulation of toll-like receptor signaling pathway", "id": "GO:0034121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034121", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "positive regulation of nitric oxide biosynthetic process", "id": "GO:0045429", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045429", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "stem cell differentiation", "id": "GO:0048863", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048863", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "positive regulation of ERK1 and ERK2 cascade", "id": "GO:0070374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070374", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "negative regulation of triglyceride metabolic process", "id": "GO:0090209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090209", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "P19785", "url": "https://www.uniprot.org/uniprotkb/P19785" } ], "pmid": "" }, { "name": "steroid hormone receptor signaling pathway", "id": "GO:0043401", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043401", 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"evidence": [ { "database": "UniProtKB", "id": "Q60759", "url": "https://www.uniprot.org/uniprotkb/Q60759" } ], "pmid": "" }, { "name": "fatty acid oxidation", "id": "GO:0019395", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019395", "evidence": [ { "database": "UniProtKB", "id": "Q60759", "url": "https://www.uniprot.org/uniprotkb/Q60759" } ], "pmid": "" }, { "name": "L-tryptophan metabolic process", "id": "GO:0006568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006568", "evidence": [ { "database": "UniProtKB", "id": "Q60759", "url": "https://www.uniprot.org/uniprotkb/Q60759" } ], "pmid": "" }, { "name": "L-lysine catabolic process to acetyl-CoA via L-pipecolate", "id": "GO:0033514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033514", "evidence": [ { "database": "UniProtKB", "id": "Q60759", "url": "https://www.uniprot.org/uniprotkb/Q60759" } ], "pmid": "" }, { "name": "carboxylic acid catabolic process", "id": "GO:0046395", "url": 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"https://disease-ontology.org/term/DOID:0050790", "evidence": [ { "id": "0050790", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050790" } ], "weight": 0.0 }, { "disease_id": "DOID:0050794", "name": "multiple synostoses syndrome", "description": "A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion.", "url": "https://disease-ontology.org/term/DOID:0050794", "evidence": [ { "id": "0050794", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050794" } ], "weight": 0.0 }, { "disease_id": "DOID:0060931", "name": "developmental dysplasia of the hip 1", "description": "A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22.", "url": 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080052" } ], "weight": 0.0 }, { "disease_id": "DOID:0080788", "name": "proximal symphalangism 2", "description": "A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.", "url": "https://disease-ontology.org/term/DOID:0080788", "evidence": [ { "id": "0080788", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080788" } ], "weight": 0.0 }, { "disease_id": "DOID:0081317", "name": "multiple synostoses syndrome 1", "description": "A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22.", "url": "https://disease-ontology.org/term/DOID:0081317", "evidence": [ { "id": "0081317", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081317" } ], "weight": 0.0 }, { "disease_id": "DOID:0081318", "name": "multiple synostoses syndrome 2", "description": "A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11.", "url": "https://disease-ontology.org/term/DOID:0081318", "evidence": [ { "id": "0081318", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081318" } ], "weight": 0.0 }, { "disease_id": "DOID:0110964", "name": "brachydactyly type A1", "description": "A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes.", "url": "https://disease-ontology.org/term/DOID:0110964", "evidence": [ { "id": "0110964", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110964" } ], "weight": 0.0 }, { "disease_id": "DOID:0110965", "name": "brachydactyly type A2", "description": "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.", "url": "https://disease-ontology.org/term/DOID:0110965", "evidence": [ { "id": "0110965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110965" } ], "weight": 0.0 }, { "disease_id": "DOID:0110970", "name": 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}, { "name": "response to mechanical stimulus", "id": "GO:0009612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009612", "evidence": [ { "database": "UniProtKB", "id": "P43027", "url": "https://www.uniprot.org/uniprotkb/P43027" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "P43027", "url": "https://www.uniprot.org/uniprotkb/P43027" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "P43027", "url": "https://www.uniprot.org/uniprotkb/P43027" } ], "pmid": "" }, { "name": "cell surface receptor protein serine/threonine kinase signaling pathway", "id": "GO:0007178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007178", "evidence": [ { "database": "UniProtKB", "id": "P43027", "url": "https://www.uniprot.org/uniprotkb/P43027" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "P43027", "url": "https://www.uniprot.org/uniprotkb/P43027" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte differentiation", "id": "GO:0032332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032332", "evidence": [ { "database": "UniProtKB", "id": "P43027", "url": "https://www.uniprot.org/uniprotkb/P43027" } ], "pmid": "" }, { "name": "forelimb morphogenesis", "id": "GO:0035136", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035136", "evidence": [ { "database": "UniProtKB", "id": "P43027", "url": "https://www.uniprot.org/uniprotkb/P43027" } ], "pmid": "" }, { "name": "hindlimb morphogenesis", "id": "GO:0035137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035137", "evidence": [ { "database": "UniProtKB", "id": "P43027", "url": "https://www.uniprot.org/uniprotkb/P43027" 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"type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "KGGNSSVK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 183, "start_aa": "Asn", "end_pos": 183, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn183", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 183, "start_aa": "Asn", "end_pos": 183, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn183", "evidence": [ { "id": "P43027", 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