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"https://disease-ontology.org/term/DOID:0081333", "evidence": [ { "id": "0081333", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081333" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "nuclear lumen", "id": "GO:0031981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031981", "evidence": [ { "database": "UniProtKB", "id": "E9PTB6", "url": "https://www.uniprot.org/uniprotkb/E9PTB6" } ], "pmid": "" }, { "name": "RNA polymerase III complex", "id": "GO:0005666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005666", "evidence": [ { "database": "UniProtKB", "id": "E9PTB6", "url": "https://www.uniprot.org/uniprotkb/E9PTB6" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "E9PTB6", "url": "https://www.uniprot.org/uniprotkb/E9PTB6" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": 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{ "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "E9PTB6", "url": "https://www.uniprot.org/uniprotkb/E9PTB6" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "E9PTB6", "url": "https://www.uniprot.org/uniprotkb/E9PTB6" } ], "pmid": "" }, { "name": "DNA-directed RNA polymerase activity", "id": "GO:0003899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003899", "evidence": [ { "database": "UniProtKB", "id": "E9PTB6", "url": "https://www.uniprot.org/uniprotkb/E9PTB6" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "E9PTB6", "url": "https://www.uniprot.org/uniprotkb/E9PTB6" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "E9PTB6", "url": "https://www.uniprot.org/uniprotkb/E9PTB6" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "E9PTB6", "url": "https://www.uniprot.org/uniprotkb/E9PTB6" } ], "pmid": "" }, { "name": "DNA/RNA hybrid binding", "id": "GO:0071667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071667", "evidence": [ { "database": "UniProtKB", "id": "E9PTB6", "url": "https://www.uniprot.org/uniprotkb/E9PTB6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "E9PTB6-1", "start_pos": "1176", "end_pos": "1176", "site_lbl": "Thr1176", "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": 1176, "start_aa": "Thr", "end_pos": 1176, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1176", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "E9PTB6-1" }, { "uniprot_canonical_ac": "E9PTI0-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "E9PTI0", "url": "https://www.uniprot.org/uniprotkb/E9PTI0" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 145, "chemical_mass": 16627.0, "gene_names": "Spint5p;Spint5p;Tpil4", "protein_name": "", "disease": [], "molecular_function": [ { "name": "serine-type endopeptidase inhibitor activity", "id": "GO:0004867", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004867", "evidence": [ { "database": "UniProtKB", "id": "E9PTI0", "url": "https://www.uniprot.org/uniprotkb/E9PTI0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "E9PTI0-1" }, { "uniprot_canonical_ac": "E9PTL5-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "E9PTL5", "url": "https://www.uniprot.org/uniprotkb/E9PTL5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 808, "chemical_mass": 92616.0, "gene_names": "Tlr1;Tlr1", "protein_name": "Toll-like receptor 1", "disease": [ { "disease_id": "DOID:1024", "name": "leprosy", "description": "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.", "url": "https://disease-ontology.org/term/DOID:1024", "evidence": [ { "id": "1024", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1024" } ], "weight": 0.0 }, { "disease_id": "DOID:11400", "name": "pyelonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:11400", "evidence": [ { "id": "11400", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11400" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. 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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:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "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: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 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"GO:0032760", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032760", "evidence": [ { "database": "UniProtKB", "id": "E9PTL5", "url": "https://www.uniprot.org/uniprotkb/E9PTL5" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "E9PTL5", "url": "https://www.uniprot.org/uniprotkb/E9PTL5" } ], "pmid": "" }, { "name": "toll-like receptor signaling pathway", "id": "GO:0002224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002224", "evidence": [ { "database": "UniProtKB", "id": "E9PTL5", "url": "https://www.uniprot.org/uniprotkb/E9PTL5" } ], "pmid": "" }, { "name": "detection of triacyl bacterial lipopeptide", "id": "GO:0042495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042495", "evidence": [ { "database": "UniProtKB", "id": "E9PTL5", "url": "https://www.uniprot.org/uniprotkb/E9PTL5" } ], "pmid": "" }, { "name": "positive regulation 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"id": "M0RCP2", "url": "https://www.uniprot.org/uniprotkb/M0RCP2" } ], "pmid": "" }, { "name": "superoxide-generating NADPH oxidase activator activity", "id": "GO:0016176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016176", "evidence": [ { "database": "UniProtKB", "id": "M0RCP2", "url": "https://www.uniprot.org/uniprotkb/M0RCP2" } ], "pmid": "" } ], "biological_process": [ { "name": "cranial skeletal system development", "id": "GO:1904888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904888", "evidence": [ { "database": "UniProtKB", "id": "M0RCP2", "url": "https://www.uniprot.org/uniprotkb/M0RCP2" } ], "pmid": "" }, { "name": "osteoblast fate commitment", "id": "GO:0002051", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002051", "evidence": [ { "database": "UniProtKB", "id": "M0RCP2", "url": "https://www.uniprot.org/uniprotkb/M0RCP2" } ], "pmid": "" }, { "name": "positive regulation of adipose tissue development", "id": "GO:1904179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904179", "evidence": [ { "database": "UniProtKB", "id": "M0RCP2", "url": "https://www.uniprot.org/uniprotkb/M0RCP2" } ], "pmid": "" }, { "name": "regulation of brood size", "id": "GO:0060378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060378", "evidence": [ { "database": "UniProtKB", "id": "M0RCP2", "url": "https://www.uniprot.org/uniprotkb/M0RCP2" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "M0RCP2", "url": "https://www.uniprot.org/uniprotkb/M0RCP2" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "M0RCP2", "url": "https://www.uniprot.org/uniprotkb/M0RCP2" } ], "pmid": "" }, { "name": "extracellular matrix disassembly", "id": "GO:0022617", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051496", "evidence": [ { "database": "UniProtKB", "id": "M0RCP2", "url": "https://www.uniprot.org/uniprotkb/M0RCP2" } ], "pmid": "" }, { "name": "skeletal system morphogenesis", "id": "GO:0048705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048705", "evidence": [ { "database": "UniProtKB", "id": "M0RCP2", "url": "https://www.uniprot.org/uniprotkb/M0RCP2" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "M0RCP2", "url": "https://www.uniprot.org/uniprotkb/M0RCP2" } ], "pmid": "" }, { "name": "protein localization to membrane", "id": "GO:0072657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072657", "evidence": [ { "database": "UniProtKB", "id": "M0RCP2", "url": "https://www.uniprot.org/uniprotkb/M0RCP2" } ], "pmid": "" }, { "name": "positive regulation of multicellular organism growth", "id": "GO:0040018", "url": 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"evidence": [ { "database": "UniProtKB", "id": "M0RCP2", "url": "https://www.uniprot.org/uniprotkb/M0RCP2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "M0RCP2-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Thr672", "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": 672, "start_aa": "Thr", "end_pos": 672, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr672", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "M0RCP2-1" }, { "uniprot_canonical_ac": "F1M2W3-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": 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norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1019, "chemical_mass": 117710.0, "gene_names": "Ide;INSDEGM;Ide", "protein_name": "Insulin-degrading enzyme", "disease": [ { "disease_id": "DOID:0050850", "name": "diabetic encephalopathy", "description": "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes.", "url": "https://disease-ontology.org/term/DOID:0050850", "evidence": [ { "id": "0050850", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050850" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. 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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:162", "name": "cancer", "description": "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and 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: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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"https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "response to oxidative stress", "id": "GO:0006979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006979", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "amyloid-beta metabolic process", "id": "GO:0050435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050435", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "hormone catabolic process", "id": "GO:0042447", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042447", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "peptide catabolic process", "id": "GO:0043171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043171", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "antigen processing and presentation of endogenous peptide antigen via MHC class I", "id": "GO:0019885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019885", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "regulation of aerobic respiration", "id": "GO:1903715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903715", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "negative regulation of proteolysis", "id": "GO:0045861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045861", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "proteolysis involved in protein catabolic process", "id": "GO:0051603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051603", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "bradykinin catabolic process", "id": "GO:0010815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010815", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "insulin catabolic process", "id": "GO:1901143", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901143", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "amyloid-beta clearance", "id": "GO:0097242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097242", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "amyloid-beta clearance by cellular catabolic process", "id": "GO:0150094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150094", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "insulin receptor recycling", "id": "GO:0038020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038020", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytosolic proteasome complex", "id": "GO:0031597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031597", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "endosome lumen", "id": "GO:0031904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031904", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" } ], "molecular_function": [ { "name": "beta-endorphin binding", "id": "GO:0031626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031626", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "endopeptidase activity", "id": "GO:0004175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004175", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "metalloendopeptidase activity", "id": "GO:0004222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004222", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "amyloid-beta binding", "id": "GO:0001540", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001540", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "peptide hormone binding", "id": "GO:0017046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017046", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "insulin binding", "id": "GO:0043559", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043559", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P35559-1", "start_pos": "111", "end_pos": "111", "site_lbl": "Glu111", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "F", "comment": "Expected to abolish catalytic activity.", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" }, { "database": "PubMed", "id": "21731629", "url": "https://glygen.org/publication/PubMed/21731629" } ] }, { "sequence_org": "E", "sequence_mut": "V", "comment": "Abolishes catalytic activity. No effect on substrate binding.", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" }, { "database": "PubMed", "id": "14527953", "url": "https://glygen.org/publication/PubMed/14527953" } ] } ] }, { "uniprot_canonical_ac": "P35559-1", "start_pos": "112", "end_pos": "112", "site_lbl": "His112", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Abolishes catalytic activity. Decreases substrate binding affinity.", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" }, { "database": "PubMed", "id": "14527953", "url": "https://glygen.org/publication/PubMed/14527953" } ] } ] }, { "uniprot_canonical_ac": "P35559-1", "start_pos": "360", "end_pos": "360", "site_lbl": "Val360", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "S", "comment": "Strongly reduced catalytic activity. Strongly reduced stimulation of activity by ATP.", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" }, { "database": "PubMed", "id": "21731629", "url": "https://glygen.org/publication/PubMed/21731629" } ] } ] }, { "uniprot_canonical_ac": "P35559-1", "start_pos": "374", "end_pos": "374", "site_lbl": "Ile374", "weight": 0.0, "mutagenesis": [ { "sequence_org": "I", "sequence_mut": "S", "comment": "Strongly reduced catalytic activity. Abolishes stimulation of activity by ATP.", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" }, { "database": "PubMed", "id": "21731629", "url": "https://glygen.org/publication/PubMed/21731629" } ] } ] }, { "uniprot_canonical_ac": "P35559-1", "start_pos": "429", "end_pos": "429", "site_lbl": "Arg429", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "S", "comment": "Greatly decreased activation by polyphosphate anions.", "evidence": [ { "database": "UniProtKB", "id": "P35559", "url": "https://www.uniprot.org/uniprotkb/P35559" }, { "database": "PubMed", "id": "22049080", "url": "https://glygen.org/publication/PubMed/22049080" } ] } ] }, { "uniprot_canonical_ac": "P35559-1", "start_pos": "609", "end_pos": "609", "site_lbl": "Tyr609", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Strongly reduced catalytic activity. 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"Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 581, "chemical_mass": 65852.0, "gene_names": "Trip4;Trip4", "protein_name": "Activating signal cointegrator 1", "disease": [], "biological_process": [ { "name": "rescue of stalled ribosome", "id": "GO:0072344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072344", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "ribosome disassembly", "id": "GO:0032790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032790", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "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": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "estrogen receptor signaling pathway", "id": "GO:0030520", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030520", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "ribosome-associated ubiquitin-dependent protein catabolic process", "id": "GO:1990116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990116", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "regulation of myoblast differentiation", "id": "GO:0045661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045661", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "RQC-trigger complex", "id": "GO:0180022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0180022", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "protease binding", "id": "GO:0002020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002020", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "nuclear receptor binding", "id": "GO:0016922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016922", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "ubiquitin-like protein ligase binding", "id": "GO:0044389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044389", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" }, { "name": "histone acetyltransferase binding", "id": "GO:0035035", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035035", "evidence": [ { "database": "UniProtKB", "id": "B5DEP5", "url": "https://www.uniprot.org/uniprotkb/B5DEP5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "B5DEP5-1" }, { "uniprot_canonical_ac": "A0A0G2JWT6-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JWT6", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JWT6" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 336, "chemical_mass": 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"evidence": [ { "database": "UniProtKB", "id": "A0A0G2JWT6", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JWT6" } ], "pmid": "" }, { "name": "protein to membrane docking", "id": "GO:0022615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022615", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JWT6", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JWT6" } ], "pmid": "" }, { "name": "ER-dependent peroxisome organization", "id": "GO:0032581", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032581", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JWT6", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JWT6" } ], "pmid": "" }, { "name": "protein import into peroxisome membrane", "id": "GO:0045046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045046", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JWT6", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JWT6" } ], "pmid": "" }, { "name": "ER-dependent peroxisome localization", "id": "GO:0106101", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106101", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2JWT6", "url": "https://www.uniprot.org/uniprotkb/A0A0G2JWT6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "A0A0G2JWT6-1" }, { "uniprot_canonical_ac": "M0RBW2-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "M0RBW2", "url": "https://www.uniprot.org/uniprotkb/M0RBW2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1850, "chemical_mass": 209195.0, "gene_names": "Cfap65", "protein_name": "", "disease": [], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "M0RBW2", "url": "https://www.uniprot.org/uniprotkb/M0RBW2" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "M0RBW2", "url": "https://www.uniprot.org/uniprotkb/M0RBW2" } ], "pmid": "" }, { "name": "axonemal central apparatus", "id": "GO:1990716", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990716", "evidence": [ { "database": "UniProtKB", "id": "M0RBW2", "url": "https://www.uniprot.org/uniprotkb/M0RBW2" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "M0RBW2", "url": "https://www.uniprot.org/uniprotkb/M0RBW2" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "M0RBW2", "url": "https://www.uniprot.org/uniprotkb/M0RBW2" } ], "pmid": "" }, { "name": "sperm midpiece", "id": "GO:0097225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097225", "evidence": [ { "database": "UniProtKB", "id": "M0RBW2", "url": "https://www.uniprot.org/uniprotkb/M0RBW2" } ], "pmid": "" } ], "biological_process": [ { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "M0RBW2", "url": "https://www.uniprot.org/uniprotkb/M0RBW2" } ], "pmid": "" }, { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "M0RBW2", "url": "https://www.uniprot.org/uniprotkb/M0RBW2" } ], "pmid": "" }, { "name": "acrosome assembly", "id": "GO:0001675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001675", "evidence": [ { "database": "UniProtKB", "id": "M0RBW2", "url": "https://www.uniprot.org/uniprotkb/M0RBW2" } ], "pmid": "" }, { "name": "cilium movement", "id": "GO:0003341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003341", "evidence": [ { "database": "UniProtKB", "id": "M0RBW2", "url": "https://www.uniprot.org/uniprotkb/M0RBW2" } ], "pmid": "" }, { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", "evidence": [ { "database": "UniProtKB", "id": "M0RBW2", "url": "https://www.uniprot.org/uniprotkb/M0RBW2" } ], "pmid": "" }, { "name": "sperm mitochondrial sheath assembly", "id": "GO:0120317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120317", "evidence": [ { "database": "UniProtKB", "id": "M0RBW2", "url": "https://www.uniprot.org/uniprotkb/M0RBW2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "M0RBW2-1", "start_pos": "1016", "end_pos": "1016", "site_lbl": "Thr1016", "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": 1016, "start_aa": "Thr", "end_pos": 1016, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1016", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] }, { "uniprot_canonical_ac": "M0RBW2-1", "start_pos": "1816", "end_pos": "1816", "site_lbl": "Ala1816", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "9", "chr_pos": "83908048", "evidence": [ { "id": "rs198102327", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs198102327" } ] } ] } ], "record_id": "M0RBW2-1" }, { "uniprot_canonical_ac": "F1LSN4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 801, "chemical_mass": 87793.0, "gene_names": "Fgfr3;Fgfr3", "protein_name": "Fibroblast growth factor receptor", "disease": [ { "disease_id": "DOID:0050736", "name": "autosomal dominant disease", "description": "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.", "url": "https://disease-ontology.org/term/DOID:0050736", "evidence": [ { "id": "0050736", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050736" } ], "weight": 0.0 }, { "disease_id": "DOID:0050866", "name": "oral squamous cell carcinoma", "description": "An oral cavity cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050866", "evidence": [ { "id": "0050866", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050866" } ], "weight": 0.0 }, { "disease_id": "DOID:0050920", "name": "tonsil squamous cell carcinoma", "description": "A tonsil cancer that has_material_basis_in squamous cells.", "url": "https://disease-ontology.org/term/DOID:0050920", "evidence": [ { "id": "0050920", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050920" } ], "weight": 0.0 }, { "disease_id": "DOID:0060249", "name": "scoliosis", "description": "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine.", "url": "https://disease-ontology.org/term/DOID:0060249", "evidence": [ { "id": "0060249", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060249" } ], "weight": 0.0 }, { "disease_id": "DOID:0060703", "name": "Muenke Syndrome", "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.", "url": "https://disease-ontology.org/term/DOID:0060703", "evidence": [ { "id": "0060703", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060703" } ], "weight": 0.0 }, { "disease_id": "DOID:0080001", "name": "bone disease", "description": "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.", "url": "https://disease-ontology.org/term/DOID:0080001", "evidence": [ { "id": "0080001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080001" } ], "weight": 0.0 }, { "disease_id": "DOID:0080041", "name": "hypochondroplasia", "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.", "url": "https://disease-ontology.org/term/DOID:0080041", "evidence": [ { "id": "0080041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080041" } ], "weight": 0.0 }, { "disease_id": "DOID:0081371", "name": "lacrimoauriculodentodigital syndrome 2", "description": "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments.", "url": "https://disease-ontology.org/term/DOID:0081371", "evidence": [ { "id": "0081371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081371" } ], "weight": 0.0 }, { "disease_id": "DOID:0111158", "name": "SADDAN", "description": "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111158", "evidence": [ { "id": "0111158", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111158" } ], "weight": 0.0 }, { "disease_id": "DOID:0111160", "name": "camptodactyly-tall stature-scoliosis-hearing loss syndrome", "description": "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111160", "evidence": [ { "id": "0111160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111160" } ], "weight": 0.0 }, { "disease_id": "DOID:0111161", "name": "Crouzon syndrome-acanthosis nigricans syndrome", "description": "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0111161", "evidence": [ { "id": "0111161", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111161" } ], "weight": 0.0 }, { "disease_id": "DOID:0111162", "name": "epidermal nevus", "description": "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth.", "url": "https://disease-ontology.org/term/DOID:0111162", "evidence": [ { "id": "0111162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111162" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "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:13481", "name": "thanatophoric dysplasia", "description": "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin.", "url": "https://disease-ontology.org/term/DOID:13481", "evidence": [ { "id": "13481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13481" } ], "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:2340", "name": "craniosynostosis", "description": "A synostosis that results_in premature fusion located_in skull.", "url": "https://disease-ontology.org/term/DOID:2340", "evidence": [ { "id": "2340", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2340" } ], "weight": 0.0 }, { "disease_id": "DOID:2671", "name": "transitional cell carcinoma", "description": "A carcinoma that derives_from transitional epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2671", "evidence": [ { "id": "2671", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2671" } ], "weight": 0.0 }, { "disease_id": "DOID:2893", "name": "cervix carcinoma", "description": "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:2893", "evidence": [ { "id": "2893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2893" } ], "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:3138", "name": "acanthosis nigricans", "description": "A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas.", "url": "https://disease-ontology.org/term/DOID:3138", "evidence": [ { "id": "3138", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3138" } ], "weight": 0.0 }, { "disease_id": "DOID:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID:3965", "name": "Merkel cell carcinoma", "description": "A skin carcinoma that is characterized by the presence of a trabecular glandular architectural pattern.", "url": "https://disease-ontology.org/term/DOID:3965", "evidence": [ { "id": "3965", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3965" } ], "weight": 0.0 }, { "disease_id": "DOID:4006", "name": "bladder urothelial carcinoma", "description": "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder.", "url": "https://disease-ontology.org/term/DOID:4006", "evidence": [ { "id": "4006", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4006" } ], "weight": 0.0 }, { "disease_id": "DOID:4480", "name": "achondroplasia", "description": "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone.", "url": "https://disease-ontology.org/term/DOID:4480", "evidence": [ { "id": "4480", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4480" } ], "weight": 0.0 }, { "disease_id": "DOID:8552", "name": "chronic myeloid leukemia", "description": "A myeloid leukemia that is characterized by over production of white blood cells.", "url": "https://disease-ontology.org/term/DOID:8552", "evidence": [ { "id": "8552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8552" } ], "weight": 0.0 }, { "disease_id": "DOID:8649", "name": "tongue cancer", "description": "", "url": "https://disease-ontology.org/term/DOID:8649", "evidence": [ { "id": "8649", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8649" } ], "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 } ], "molecular_function": [ { "name": "fibroblast growth factor receptor activity", "id": "GO:0005007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005007", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "fibroblast growth factor binding", "id": "GO:0017134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017134", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "growth factor activity", "id": "GO:0008083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008083", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "miRNA binding", "id": "GO:0035198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035198", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "transport vesicle", "id": "GO:0030133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030133", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" } ], "biological_process": [ { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "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": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "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": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "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": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "bone morphogenesis", "id": "GO:0060349", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060349", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "ossification", "id": "GO:0001503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001503", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "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": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "fibroblast growth factor receptor apoptotic signaling pathway", "id": "GO:1902178", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902178", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway", "id": "GO:0090080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090080", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "response to sodium phosphate", "id": "GO:1904383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904383", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "alveolar secondary septum development", "id": "GO:0061144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061144", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "bone trabecula morphogenesis", "id": "GO:0061430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061430", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "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": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "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": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "central nervous system myelination", "id": "GO:0022010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022010", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "substantia nigra development", "id": "GO:0021762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021762", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell proliferation", "id": "GO:0001938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001938", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "digestive tract morphogenesis", "id": "GO:0048546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048546", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "positive regulation of peptidyl-tyrosine phosphorylation", "id": "GO:0050731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050731", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "ERK1 and ERK2 cascade", "id": "GO:0070371", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070371", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "positive regulation of neuron apoptotic process", "id": "GO:0043525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043525", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "response to axon injury", "id": "GO:0048678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048678", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "regulation of ossification", "id": "GO:0030278", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030278", "evidence": [ { "database": "UniProtKB", "id": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "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": "F1LSN4", "url": "https://www.uniprot.org/uniprotkb/F1LSN4" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", 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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: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:9828", "name": "neonatal abstinence syndrome", "description": "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment.", "url": "https://disease-ontology.org/term/DOID:9828", "evidence": [ { "id": "9828", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9828" } ], "weight": 0.0 }, { "disease_id": "DOID:9974", "name": "drug dependence", "description": "A substance dependence that involves the continued use of drugs despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:9974", "evidence": [ { "id": "9974", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9974" } ], "weight": 0.0 }, { "disease_id": "DOID:9976", "name": "heroin dependence", "description": "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.", "url": 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"url": "https://www.uniprot.org/uniprotkb/F1LT33" } ], "pmid": "" }, { "name": "arachidonate epoxygenase activity", "id": "GO:0008392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008392", "evidence": [ { "database": "UniProtKB", "id": "F1LT33", "url": "https://www.uniprot.org/uniprotkb/F1LT33" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "F1LT33", "url": "https://www.uniprot.org/uniprotkb/F1LT33" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "F1LT33", "url": "https://www.uniprot.org/uniprotkb/F1LT33" } ], "pmid": "" } ], "biological_process": [ { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "F1LT33", "url": "https://www.uniprot.org/uniprotkb/F1LT33" } ], "pmid": "" }, { "name": "epoxygenase P450 pathway", "id": "GO:0019373", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019373", "evidence": [ { "database": "UniProtKB", "id": "F1LT33", "url": "https://www.uniprot.org/uniprotkb/F1LT33" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F1LT33-1" }, { "uniprot_canonical_ac": "F1LT39-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F1LT39", "url": "https://www.uniprot.org/uniprotkb/F1LT39" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 326, "chemical_mass": 37028.0, "gene_names": "Mogat3;LOC685560", "protein_name": "Acyltransferase", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "F1LT39", "url": "https://www.uniprot.org/uniprotkb/F1LT39" } ], "pmid": "" }, { "name": "perinuclear endoplasmic reticulum membrane", "id": "GO:1990578", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990578", "evidence": [ { "database": "UniProtKB", "id": "F1LT39", "url": "https://www.uniprot.org/uniprotkb/F1LT39" } ], "pmid": "" } ], "biological_process": [ { "name": "triglyceride biosynthetic process", "id": "GO:0019432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019432", "evidence": [ { "database": "UniProtKB", "id": "F1LT39", "url": "https://www.uniprot.org/uniprotkb/F1LT39" } ], "pmid": "" }, { "name": "monoacylglycerol biosynthetic process", "id": "GO:0006640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006640", "evidence": [ { "database": "UniProtKB", "id": "F1LT39", "url": "https://www.uniprot.org/uniprotkb/F1LT39" } ], "pmid": "" } ], "molecular_function": [ { "name": "diacylglycerol O-acyltransferase activity", "id": "GO:0004144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004144", "evidence": [ { "database": "UniProtKB", "id": "F1LT39", "url": "https://www.uniprot.org/uniprotkb/F1LT39" } ], "pmid": "" }, { "name": "2-acylglycerol O-acyltransferase activity", "id": "GO:0003846", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003846", "evidence": [ { "database": "UniProtKB", "id": "F1LT39", "url": "https://www.uniprot.org/uniprotkb/F1LT39" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F1LT39-1" }, { "uniprot_canonical_ac": "F1LT57-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F1LT57", "url": "https://www.uniprot.org/uniprotkb/F1LT57" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 224, "chemical_mass": 24828.0, "gene_names": "C5h1orf185;C5h1orf185;LOC100364206;LOC689589", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F1LT57-1" }, { "uniprot_canonical_ac": "F1LTB8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F1LTB8", "url": "https://www.uniprot.org/uniprotkb/F1LTB8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 530, "chemical_mass": 60310.0, "gene_names": "Ugt2b34l1;RGD1559459;Ugt2b34l1", "protein_name": "UDP-glucuronosyltransferase", "disease": [], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "F1LTB8", "url": "https://www.uniprot.org/uniprotkb/F1LTB8" } ], "pmid": "" }, { "name": "nuclear outer membrane", "id": "GO:0005640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005640", "evidence": [ { "database": "UniProtKB", "id": "F1LTB8", "url": "https://www.uniprot.org/uniprotkb/F1LTB8" } ], "pmid": "" } ], "biological_process": [ { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "F1LTB8", "url": "https://www.uniprot.org/uniprotkb/F1LTB8" } ], "pmid": "" } ], "molecular_function": [ { "name": "glucuronosyltransferase activity", "id": "GO:0015020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015020", "evidence": [ { "database": "UniProtKB", "id": "F1LTB8", "url": "https://www.uniprot.org/uniprotkb/F1LTB8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F1LTB8-1" }, { "uniprot_canonical_ac": "F1LTN0-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F1LTN0", "url": "https://www.uniprot.org/uniprotkb/F1LTN0" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 203, "chemical_mass": 22548.0, "gene_names": "Il17c;Il17c", "protein_name": "Interleukin-17C", "disease": [], "biological_process": [ { "name": "neutrophil differentiation", "id": "GO:0030223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030223", "evidence": [ { "database": "UniProtKB", "id": "F1LTN0", "url": "https://www.uniprot.org/uniprotkb/F1LTN0" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "F1LTN0", "url": "https://www.uniprot.org/uniprotkb/F1LTN0" } ], "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": "F1LTN0", "url": "https://www.uniprot.org/uniprotkb/F1LTN0" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "F1LTN0", "url": "https://www.uniprot.org/uniprotkb/F1LTN0" } ], "pmid": "" } ], "molecular_function": [ { "name": "cytokine activity", "id": "GO:0005125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005125", "evidence": [ { "database": "UniProtKB", "id": "F1LTN0", "url": "https://www.uniprot.org/uniprotkb/F1LTN0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "F1LTN0-1", "start_pos": "177", "end_pos": "177", "site_lbl": "Thr177", "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": 177, "start_aa": "Thr", "end_pos": 177, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr177", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "F1LTN0-1" }, { "uniprot_canonical_ac": "F1LTT8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F1LTT8", "url": "https://www.uniprot.org/uniprotkb/F1LTT8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 340, "chemical_mass": 37156.0, "gene_names": "C2cd4a;C2cd4a;Fam148a;Nlf1", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "F1LTT8", "url": "https://www.uniprot.org/uniprotkb/F1LTT8" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "F1LTT8", "url": "https://www.uniprot.org/uniprotkb/F1LTT8" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "F1LTT8", "url": "https://www.uniprot.org/uniprotkb/F1LTT8" } ], "pmid": "" } ], "biological_process": [ { "name": "regulation of cell adhesion", "id": "GO:0030155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030155", "evidence": [ { "database": "UniProtKB", "id": "F1LTT8", "url": "https://www.uniprot.org/uniprotkb/F1LTT8" } ], "pmid": "" }, { "name": "positive regulation of acute inflammatory response", "id": "GO:0002675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002675", "evidence": [ { "database": "UniProtKB", "id": "F1LTT8", "url": "https://www.uniprot.org/uniprotkb/F1LTT8" } ], "pmid": "" }, { "name": "regulation of vascular permeability involved in acute inflammatory response", "id": "GO:0002528", "url": 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"taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F1LTX5", "url": "https://www.uniprot.org/uniprotkb/F1LTX5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 182, "chemical_mass": 20812.0, "gene_names": "Fthl17a;Fthl17a;Fthl17e;LOC681066", "protein_name": "Ferritin", "disease": [ { "disease_id": "DOID:1508", "name": "candidiasis", "description": "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. 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[], "biomarkers": [], "sites": [], "record_id": "F1LX92-1" }, { "uniprot_canonical_ac": "F1LX96-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F1LX96", "url": "https://www.uniprot.org/uniprotkb/F1LX96" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 639, "chemical_mass": 72925.0, "gene_names": "Il23r;Il23r", "protein_name": "Interleukin-23 receptor", "disease": [ { "disease_id": "DOID:0081120", "name": "Graves ophthalmopathy", "description": "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes.", "url": "https://disease-ontology.org/term/DOID:0081120", "evidence": [ { "id": "0081120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081120" } ], "weight": 0.0 }, { "disease_id": "DOID:0110883", "name": "inflammatory bowel 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], "weight": 0.0 }, { "disease_id": "DOID:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. 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The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip.", "url": "https://disease-ontology.org/term/DOID:4483", "evidence": [ { "id": "4483", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4483" } ], "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:7147", "name": "ankylosing spondylitis", "description": "An arthritis that results_in inflammation in the joints of the spine and pelvis. 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"id": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte differentiation", "id": "GO:0032332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032332", "evidence": [ { "database": "UniProtKB", "id": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" }, { "name": "developmental growth", "id": "GO:0048589", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048589", "evidence": [ { "database": "UniProtKB", "id": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" }, { "name": "prostate gland development", "id": "GO:0030850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030850", "evidence": [ { "database": "UniProtKB", "id": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" }, { "name": "regulation of chondrocyte differentiation", "id": "GO:0032330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032330", "evidence": [ { "database": "UniProtKB", "id": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "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": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" }, { "name": "cartilage development involved in endochondral bone morphogenesis", "id": "GO:0060351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060351", "evidence": [ { "database": "UniProtKB", "id": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" }, { "name": "response to testosterone", "id": "GO:0033574", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033574", "evidence": [ { "database": "UniProtKB", "id": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" }, { "name": "embryonic skeletal joint morphogenesis", "id": "GO:0060272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060272", "evidence": [ { "database": "UniProtKB", "id": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" }, { "name": "uterus development", "id": "GO:0060065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060065", "evidence": [ { "database": "UniProtKB", "id": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" } ], "molecular_function": [ { "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": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "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": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "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": "G3V6Z0", "url": "https://www.uniprot.org/uniprotkb/G3V6Z0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V6Z0-1" }, { "uniprot_canonical_ac": "G3V7V2-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V7V2", "url": "https://www.uniprot.org/uniprotkb/G3V7V2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 435, "chemical_mass": 46939.0, "gene_names": "Aamp;Aamp", "protein_name": "Angio-associated migratory cell protein", "disease": [], "cellular_component": [ { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "G3V7V2", "url": "https://www.uniprot.org/uniprotkb/G3V7V2" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "G3V7V2", "url": "https://www.uniprot.org/uniprotkb/G3V7V2" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "G3V7V2", "url": "https://www.uniprot.org/uniprotkb/G3V7V2" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "G3V7V2", "url": "https://www.uniprot.org/uniprotkb/G3V7V2" } ], "pmid": "" } ], "molecular_function": [ { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "G3V7V2", "url": "https://www.uniprot.org/uniprotkb/G3V7V2" } ], "pmid": "" } ], "biological_process": [ { "name": "smooth muscle cell migration", "id": "GO:0014909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014909", "evidence": [ { "database": "UniProtKB", "id": "G3V7V2", "url": "https://www.uniprot.org/uniprotkb/G3V7V2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V7V2-1" }, { "uniprot_canonical_ac": "G3V824-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V824", "url": "https://www.uniprot.org/uniprotkb/G3V824" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 2481, "chemical_mass": 273595.0, "gene_names": "Igf2r;IGF-IIR;Igf2r;Igfr2", "protein_name": "Cation-independent mannose-6-phosphate receptor", "disease": [ { "disease_id": "DOID:0060060", "name": "non-Hodgkin lymphoma", "description": "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma.", "url": "https://disease-ontology.org/term/DOID:0060060", "evidence": [ { "id": "0060060", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060060" } ], "weight": 0.0 }, { "disease_id": "DOID:1520", "name": "colon carcinoma", "description": "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1520", "evidence": [ { "id": "1520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1520" } ], "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:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.", "url": "https://disease-ontology.org/term/DOID:332", "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ], "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: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: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": 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"https://www.uniprot.org/uniprotkb/G3V824" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "G3V824", "url": "https://www.uniprot.org/uniprotkb/G3V824" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "G3V824", "url": "https://www.uniprot.org/uniprotkb/G3V824" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "G3V824", "url": "https://www.uniprot.org/uniprotkb/G3V824" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "G3V824", "url": "https://www.uniprot.org/uniprotkb/G3V824" } ], "pmid": "" }, { "name": "cell 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"Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 740, "chemical_mass": 84333.0, "gene_names": "G2e3", "protein_name": "", "disease": [], "biological_process": [ { "name": "pericentric heterochromatin formation", "id": "GO:0031508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031508", "evidence": [ { "database": "UniProtKB", "id": "D3ZC11", "url": "https://www.uniprot.org/uniprotkb/D3ZC11" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "D3ZC11", "url": "https://www.uniprot.org/uniprotkb/D3ZC11" } ], "pmid": "" }, { "name": "negative regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001243", "evidence": [ { "database": "UniProtKB", "id": "D3ZC11", "url": "https://www.uniprot.org/uniprotkb/D3ZC11" } ], "pmid": "" }, { "name": "protein 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"cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D3ZC11", "url": "https://www.uniprot.org/uniprotkb/D3ZC11" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "D3ZC11", "url": "https://www.uniprot.org/uniprotkb/D3ZC11" } ], "pmid": "" }, { "name": "pericentric heterochromatin", "id": "GO:0005721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005721", "evidence": [ { "database": "UniProtKB", "id": "D3ZC11", "url": "https://www.uniprot.org/uniprotkb/D3ZC11" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "D3ZC11", "url": "https://www.uniprot.org/uniprotkb/D3ZC11" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "D3ZC11", "url": "https://www.uniprot.org/uniprotkb/D3ZC11" } ], "pmid": "" }, { "name": "histone H3K14 ubiquitin ligase activity", "id": "GO:0140851", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140851", "evidence": [ { "database": "UniProtKB", "id": "D3ZC11", "url": "https://www.uniprot.org/uniprotkb/D3ZC11" } ], "pmid": "" }, { "name": "ubiquitin-protein transferase activity", "id": "GO:0004842", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004842", "evidence": [ { "database": "UniProtKB", "id": "D3ZC11", "url": "https://www.uniprot.org/uniprotkb/D3ZC11" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZC11-1" }, { "uniprot_canonical_ac": "D3ZC12-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZC12", "url": "https://www.uniprot.org/uniprotkb/D3ZC12" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 313, "chemical_mass": 34928.0, "gene_names": "Or5an9;Olr329;Or5an9;ratchr1-215287476-215288417_ORF", "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": "D3ZC12", "url": "https://www.uniprot.org/uniprotkb/D3ZC12" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "D3ZC12", "url": "https://www.uniprot.org/uniprotkb/D3ZC12" } ], "pmid": "" }, { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "D3ZC12", "url": "https://www.uniprot.org/uniprotkb/D3ZC12" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "D3ZC12", "url": "https://www.uniprot.org/uniprotkb/D3ZC12" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZC12-1" }, { "uniprot_canonical_ac": "D3ZC66-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZC66", "url": "https://www.uniprot.org/uniprotkb/D3ZC66" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 392, "chemical_mass": 44569.0, "gene_names": "B3gnt6;B3gnt6;RGD1310926", "protein_name": "Hexosyltransferase", "disease": [], "molecular_function": [ { "name": "UDP-glycosyltransferase activity", "id": "GO:0008194", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008194", "evidence": [ { "database": "UniProtKB", "id": "D3ZC66", "url": "https://www.uniprot.org/uniprotkb/D3ZC66" } ], "pmid": "" }, { "name": "galactosyltransferase activity", "id": "GO:0008378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008378", "evidence": [ { "database": "UniProtKB", "id": "D3ZC66", "url": "https://www.uniprot.org/uniprotkb/D3ZC66" } ], "pmid": "" }, { "name": "N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity", "id": "GO:0008499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008499", "evidence": [ { "database": "UniProtKB", "id": "D3ZC66", "url": "https://www.uniprot.org/uniprotkb/D3ZC66" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "D3ZC66", "url": "https://www.uniprot.org/uniprotkb/D3ZC66" } ], "pmid": "" } ], "biological_process": [ { "name": "protein O-linked glycosylation via N-acetyl-galactosamine", "id": "GO:0016266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016266", "evidence": [ { "database": "UniProtKB", "id": "D3ZC66", "url": "https://www.uniprot.org/uniprotkb/D3ZC66" } ], "pmid": "" }, { "name": "poly-N-acetyllactosamine biosynthetic process", "id": "GO:0030311", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030311", "evidence": [ { "database": "UniProtKB", "id": "D3ZC66", "url": "https://www.uniprot.org/uniprotkb/D3ZC66" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZC66-1" }, { "uniprot_canonical_ac": "D3ZC81-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZC81", "url": "https://www.uniprot.org/uniprotkb/D3ZC81" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 324, "chemical_mass": 37112.0, "gene_names": "Pex10;Pex10", "protein_name": "Peroxisome biogenesis factor 10", "disease": [ { "disease_id": "DOID:0080481", "name": "peroxisome biogenesis disorder 6A", "description": "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0080481", "evidence": [ { "id": "0080481", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080481" } ], "weight": 0.0 }, { "disease_id": "DOID:0081435", "name": "Peroxisome biogenesis disorder 6B", "description": "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36.", "url": "https://disease-ontology.org/term/DOID:0081435", "evidence": [ { "id": "0081435", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081435" } ], "weight": 0.0 }, { "disease_id": "DOID:906", "name": "peroxisomal disease", "description": "An inherited metabolic disorder that involves peroxisome malfunction.", "url": "https://disease-ontology.org/term/DOID:906", "evidence": [ { "id": "906", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:906" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "D3ZC81", "url": "https://www.uniprot.org/uniprotkb/D3ZC81" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "D3ZC81", "url": "https://www.uniprot.org/uniprotkb/D3ZC81" } ], "pmid": "" }, { "name": "ubiquitin ligase complex", "id": "GO:0000151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000151", "evidence": [ { "database": "UniProtKB", "id": "D3ZC81", "url": "https://www.uniprot.org/uniprotkb/D3ZC81" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "D3ZC81", "url": "https://www.uniprot.org/uniprotkb/D3ZC81" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "D3ZC81", "url": "https://www.uniprot.org/uniprotkb/D3ZC81" } ], "pmid": "" } ], "biological_process": [ { "name": "peroxisome organization", "id": "GO:0007031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007031", "evidence": [ { "database": "UniProtKB", "id": "D3ZC81", "url": "https://www.uniprot.org/uniprotkb/D3ZC81" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "D3ZC81", "url": "https://www.uniprot.org/uniprotkb/D3ZC81" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "D3ZC81", "url": "https://www.uniprot.org/uniprotkb/D3ZC81" } ], "pmid": "" }, { "name": "protein import into peroxisome matrix", "id": "GO:0016558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016558", "evidence": [ { "database": "UniProtKB", "id": "D3ZC81", "url": "https://www.uniprot.org/uniprotkb/D3ZC81" } ], "pmid": "" }, { "name": "protein import into peroxisome matrix, receptor recycling", "id": "GO:0016562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016562", "evidence": [ { "database": "UniProtKB", "id": "D3ZC81", "url": "https://www.uniprot.org/uniprotkb/D3ZC81" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZC81-1" }, { "uniprot_canonical_ac": "D3ZCA5-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZCA5", "url": "https://www.uniprot.org/uniprotkb/D3ZCA5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 311, "chemical_mass": 35256.0, "gene_names": "Or4c120;Olr686;Or4c120", "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": "D3ZCA5", "url": "https://www.uniprot.org/uniprotkb/D3ZCA5" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "D3ZCA5", "url": "https://www.uniprot.org/uniprotkb/D3ZCA5" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "D3ZCA5", "url": "https://www.uniprot.org/uniprotkb/D3ZCA5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZCA5-1" }, { "uniprot_canonical_ac": "D3ZCF3-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZCF3", "url": "https://www.uniprot.org/uniprotkb/D3ZCF3" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 207, "chemical_mass": 24143.0, "gene_names": "Cd209e;Cd209e;RGD1563333", "protein_name": "", "disease": [ { "disease_id": "DOID:0050598", "name": "extrapulmonary tuberculosis", "description": "A tuberculosis that occurs at body sites other than the lung.", "url": "https://disease-ontology.org/term/DOID:0050598", "evidence": [ { "id": "0050598", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050598" } ], "weight": 0.0 }, { "disease_id": "DOID:0050827", "name": "rheumatic heart disease", "description": "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.", "url": "https://disease-ontology.org/term/DOID:0050827", "evidence": [ { "id": "0050827", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050827" } ], "weight": 0.0 }, { "disease_id": "DOID:0080599", "name": "Coronavirus infectious disease", "description": "A viral infectious disease that has_material_basis_in Coronavirus.", "url": "https://disease-ontology.org/term/DOID:0080599", "evidence": [ { "id": "0080599", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080599" } ], "weight": 0.0 }, { "disease_id": "DOID:11650", "name": "bronchopulmonary dysplasia", "description": "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. 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:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12206", "name": "dengue hemorrhagic fever", "description": "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus (Orthoflavivirus denguei) serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. Four distinct Dengue virus serotypes have been identified.", "url": "https://disease-ontology.org/term/DOID:12206", "evidence": [ { "id": "12206", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12206" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system.", "url": "https://disease-ontology.org/term/DOID:13564", "evidence": [ { "id": "13564", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13564" } ], "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:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "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: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: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: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 } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "D3ZCF3", "url": "https://www.uniprot.org/uniprotkb/D3ZCF3" } ], "pmid": "" } ], "cellular_component": [ { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "D3ZCF3", "url": "https://www.uniprot.org/uniprotkb/D3ZCF3" } ], "pmid": "" } ], "molecular_function": [ { "name": "D-mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "D3ZCF3", "url": "https://www.uniprot.org/uniprotkb/D3ZCF3" } ], "pmid": "" }, { "name": "pattern recognition receptor activity", "id": "GO:0038187", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038187", "evidence": [ { "database": "UniProtKB", "id": "D3ZCF3", "url": "https://www.uniprot.org/uniprotkb/D3ZCF3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZCF3-1" }, { "uniprot_canonical_ac": "D3ZCG1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZCG1", "url": "https://www.uniprot.org/uniprotkb/D3ZCG1" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 435, "chemical_mass": 48834.0, "gene_names": "Dipk2b;Dipk2b;RGD1559731", "protein_name": "", "disease": [], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "D3ZCG1", "url": "https://www.uniprot.org/uniprotkb/D3ZCG1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZCG1-1" }, { "uniprot_canonical_ac": "D3ZCI3-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZCI3", "url": "https://www.uniprot.org/uniprotkb/D3ZCI3" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1104, "chemical_mass": 120314.0, "gene_names": "Arhgap30;Arhgap30;RGD1561419", "protein_name": "", "disease": [], "molecular_function": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "D3ZCI3", "url": "https://www.uniprot.org/uniprotkb/D3ZCI3" } ], "pmid": "" } ], "biological_process": [ { "name": "small GTPase-mediated signal transduction", "id": "GO:0007264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007264", "evidence": [ { "database": "UniProtKB", "id": "D3ZCI3", "url": "https://www.uniprot.org/uniprotkb/D3ZCI3" } ], "pmid": "" }, { "name": "negative regulation of Rho protein signal transduction", "id": "GO:0035024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035024", "evidence": [ { "database": "UniProtKB", "id": "D3ZCI3", "url": "https://www.uniprot.org/uniprotkb/D3ZCI3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZCI3-1" }, { "uniprot_canonical_ac": "D3ZCJ8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZCJ8", "url": "https://www.uniprot.org/uniprotkb/D3ZCJ8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 555, "chemical_mass": 63605.0, "gene_names": "Zfp879;RGD1563273;Zfp879;Zfp980", "protein_name": "", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D3ZCJ8", "url": "https://www.uniprot.org/uniprotkb/D3ZCJ8" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "D3ZCJ8", "url": "https://www.uniprot.org/uniprotkb/D3ZCJ8" } ], "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": "D3ZCJ8", "url": "https://www.uniprot.org/uniprotkb/D3ZCJ8" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "D3ZCJ8", "url": "https://www.uniprot.org/uniprotkb/D3ZCJ8" } ], "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": "D3ZCJ8", "url": "https://www.uniprot.org/uniprotkb/D3ZCJ8" } ], "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": "D3ZCJ8", "url": "https://www.uniprot.org/uniprotkb/D3ZCJ8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZCJ8-1" }, { "uniprot_canonical_ac": "D3ZCM3-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 650, "chemical_mass": 72491.0, "gene_names": "Abcg4", "protein_name": "ATP-binding cassette subfamily G member 4", "disease": [], "molecular_function": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" }, { "name": "ABC-type sterol transporter activity", "id": "GO:0034041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034041", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" } ], "cellular_component": [ { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cholesterol efflux", "id": "GO:0010875", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010875", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" }, { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "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": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" }, { "name": "cholesterol efflux", "id": "GO:0033344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033344", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" }, { "name": "cholesterol homeostasis", "id": "GO:0042632", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042632", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" }, { "name": "positive regulation of cholesterol biosynthetic process", "id": "GO:0045542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045542", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" }, { "name": "sterol transport", "id": "GO:0015918", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015918", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" }, { "name": "cellular response to high density lipoprotein particle stimulus", "id": "GO:0071403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071403", "evidence": [ { "database": "UniProtKB", "id": "D3ZCM3", "url": "https://www.uniprot.org/uniprotkb/D3ZCM3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZCM3-1" }, { "uniprot_canonical_ac": "D3ZCQ9-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZCQ9", "url": "https://www.uniprot.org/uniprotkb/D3ZCQ9" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 282, "chemical_mass": 32220.0, "gene_names": "Mlf1;Mlf1", "protein_name": "", "disease": [], "biological_process": [ { "name": "myeloid progenitor cell differentiation", "id": "GO:0002318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002318", "evidence": [ { "database": "UniProtKB", "id": "D3ZCQ9", "url": "https://www.uniprot.org/uniprotkb/D3ZCQ9" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "D3ZCQ9", "url": "https://www.uniprot.org/uniprotkb/D3ZCQ9" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "D3ZCQ9", "url": "https://www.uniprot.org/uniprotkb/D3ZCQ9" } ], "pmid": "" }, { "name": "regulation of signal transduction by p53 class mediator", "id": "GO:1901796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901796", "evidence": [ { "database": "UniProtKB", "id": "D3ZCQ9", "url": "https://www.uniprot.org/uniprotkb/D3ZCQ9" } ], "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": "D3ZCQ9", "url": "https://www.uniprot.org/uniprotkb/D3ZCQ9" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "D3ZCQ9", "url": "https://www.uniprot.org/uniprotkb/D3ZCQ9" } ], "pmid": "" }, { "name": "protein domain specific binding", "id": "GO:0019904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019904", "evidence": [ { "database": "UniProtKB", "id": "D3ZCQ9", "url": "https://www.uniprot.org/uniprotkb/D3ZCQ9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D3ZCQ9", "url": "https://www.uniprot.org/uniprotkb/D3ZCQ9" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D3ZCQ9", "url": "https://www.uniprot.org/uniprotkb/D3ZCQ9" } ], "pmid": "" }, { "name": 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"https://www.alliancegenome.org/disease/DOID:0051061" } ], "weight": 0.0 }, { "disease_id": "DOID:0051064", "name": "left ventricular failure", "description": "A congestive heart failure that is characterized by dysfunction of the left ventricle, resulting insufficient delivery of blood to vital organs.", "url": "https://disease-ontology.org/term/DOID:0051064", "evidence": [ { "id": "0051064", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0051064" } ], "weight": 0.0 }, { "disease_id": "DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system.", "url": "https://disease-ontology.org/term/DOID:0060903", "evidence": [ { "id": "0060903", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080652", "name": "calcium oxalate nephrolithiasis", "description": "A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16.", "url": "https://disease-ontology.org/term/DOID:0080652", "evidence": [ { "id": "0080652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080652" } ], "weight": 0.0 }, { "disease_id": "DOID:0080941", "name": "acquired angioedema", "description": "An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation.", "url": "https://disease-ontology.org/term/DOID:0080941", "evidence": [ { "id": "0080941", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080941" } ], "weight": 0.0 }, { "disease_id": "DOID:0111800", "name": "syndromic microphthalmia 12", "description": "A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2.", "url": "https://disease-ontology.org/term/DOID:0111800", "evidence": [ { "id": "0111800", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111800" } ], "weight": 0.0 }, { "disease_id": "DOID:0111907", "name": "thrombophilia due to thrombin defect", "description": "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2.", "url": "https://disease-ontology.org/term/DOID:0111907", "evidence": [ { "id": "0111907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111907" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone.", "url": "https://disease-ontology.org/term/DOID:10159", "evidence": [ { "id": "10159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ], "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:10608", "name": "celiac disease", "description": "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.", "url": "https://disease-ontology.org/term/DOID:10608", "evidence": [ { "id": "10608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10608" } ], "weight": 0.0 }, { "disease_id": "DOID:10923", "name": "sickle cell anemia", "description": "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain.", "url": "https://disease-ontology.org/term/DOID:10923", "evidence": [ { "id": "10923", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ], "weight": 0.0 }, { "disease_id": "DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder.", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ], "weight": 0.0 }, { "disease_id": "DOID:11247", "name": "disseminated intravascular coagulation", "description": "", "url": "https://disease-ontology.org/term/DOID:11247", "evidence": [ { "id": "11247", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ], "weight": 0.0 }, { "disease_id": "DOID:11695", "name": "portal vein thrombosis", "description": "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein.", "url": "https://disease-ontology.org/term/DOID:11695", "evidence": [ { "id": "11695", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11695" } ], "weight": 0.0 }, { "disease_id": "DOID:12134", "name": "factor VIII deficiency", "description": "A hemophilia that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.", "url": "https://disease-ontology.org/term/DOID:12134", "evidence": [ { "id": "12134", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12134" } ], "weight": 0.0 }, { "disease_id": "DOID:12140", "name": "Chagas disease", "description": "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis.", "url": "https://disease-ontology.org/term/DOID:12140", "evidence": [ { "id": "12140", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12140" } ], "weight": 0.0 }, { "disease_id": "DOID:12205", "name": "dengue disease", "description": "A viral infectious disease that results in infection, has_material_basis_in Dengue virus (Orthoflavivirus denguei), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding.", "url": "https://disease-ontology.org/term/DOID:12205", "evidence": [ { "id": "12205", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12205" } ], "weight": 0.0 }, { "disease_id": "DOID:12259", "name": "hemophilia B", "description": "A hemophilia that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.", "url": "https://disease-ontology.org/term/DOID:12259", "evidence": [ { "id": "12259", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12259" } ], "weight": 0.0 }, { "disease_id": "DOID:12554", "name": "hemolytic-uremic syndrome", "description": "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs.", "url": "https://disease-ontology.org/term/DOID:12554", "evidence": [ { "id": "12554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12554" } ], "weight": 0.0 }, { "disease_id": "DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.", "url": "https://disease-ontology.org/term/DOID:12858", "evidence": [ { "id": "12858", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ], "weight": 0.0 }, { "disease_id": "DOID:13001", "name": "carotid stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:13001", "evidence": [ { "id": "13001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13001" } ], "weight": 0.0 }, { "disease_id": "DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "weight": 0.0 }, { "disease_id": "DOID:14735", "name": "hereditary angioedema", "description": "An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes.", "url": "https://disease-ontology.org/term/DOID:14735", "evidence": [ { "id": "14735", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14735" } ], "weight": 0.0 }, { "disease_id": "DOID:1555", "name": "urticaria", "description": "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis.", "url": "https://disease-ontology.org/term/DOID:1555", "evidence": [ { "id": "1555", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1555" } ], "weight": 0.0 }, { "disease_id": "DOID:1727", "name": "retinal vein occlusion", "description": "", "url": "https://disease-ontology.org/term/DOID:1727", "evidence": [ { "id": "1727", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1727" } ], "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:1936", "name": "atherosclerosis", "description": "An arteriosclerotic cardiovascular disease that is characterized by the build-up of fatty material and calcium deposition in the arterial wall resulting in partial or complete occlusion of the arterial lumen. Disease is located within the tunica intima of large and small arteries.", "url": "https://disease-ontology.org/term/DOID:1936", "evidence": [ { "id": "1936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1936" } ], "weight": 0.0 }, { "disease_id": "DOID:2048", "name": "autoimmune hepatitis", "description": "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells.", "url": "https://disease-ontology.org/term/DOID:2048", "evidence": [ { "id": "2048", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2048" } ], "weight": 0.0 }, { "disease_id": "DOID:2235", "name": "prothrombin deficiency", "description": "A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11.", "url": "https://disease-ontology.org/term/DOID:2235", "evidence": [ { "id": "2235", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2235" } ], "weight": 0.0 }, { "disease_id": "DOID:2297", "name": "leptospirosis", "description": "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly.", "url": "https://disease-ontology.org/term/DOID:2297", "evidence": [ { "id": "2297", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2297" } ], "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:2452", "name": "thrombophilia", "description": "A blood coagulation disease that is characterized by an increased tendency to form clots.", "url": "https://disease-ontology.org/term/DOID:2452", "evidence": [ { "id": "2452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2452" } ], "weight": 0.0 }, { "disease_id": "DOID:2527", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation.", "url": "https://disease-ontology.org/term/DOID:2527", "evidence": [ { "id": "2527", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2527" } ], "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: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: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:3310", "name": "atopic dermatitis", "description": "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.", "url": "https://disease-ontology.org/term/DOID:3310", "evidence": [ { "id": "3310", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3310" } ], "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: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: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:418", "name": "systemic scleroderma", "description": "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.", "url": "https://disease-ontology.org/term/DOID:418", "evidence": [ { "id": "418", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:418" } ], "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: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: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:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma.", "url": "https://disease-ontology.org/term/DOID:4724", "evidence": [ { "id": "4724", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ], "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:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:5614", "name": "eye disease", "description": "An eye and adnexa disease that is located_in the eye.", "url": "https://disease-ontology.org/term/DOID:5614", "evidence": [ { "id": "5614", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5614" } ], "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:7596", "name": "asbestos-related lung carcinoma", "description": "", "url": "https://disease-ontology.org/term/DOID:7596", "evidence": [ { "id": "7596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7596" } ], "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:8337", "name": "appendicitis", "description": "An appendix disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever.", "url": "https://disease-ontology.org/term/DOID:8337", "evidence": [ { "id": "8337", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8337" } ], "weight": 0.0 }, { "disease_id": "DOID:8506", "name": "bullous pemphigoid", "description": "A pemphigoid that is characterized by large blisters.", "url": "https://disease-ontology.org/term/DOID:8506", "evidence": [ { "id": "8506", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8506" } ], "weight": 0.0 }, { "disease_id": "DOID:8536", "name": "herpes zoster", "description": "A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia.", "url": "https://disease-ontology.org/term/DOID:8536", "evidence": [ { "id": "8536", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8536" } ], "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:874", "name": "bacterial pneumonia", "description": "A pneumonia involving inflammation of the lungs caused by bacteria.", "url": "https://disease-ontology.org/term/DOID:874", "evidence": [ { "id": "874", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:874" } ], "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: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: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: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:9477", "name": "pulmonary embolism", "description": "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot.", "url": "https://disease-ontology.org/term/DOID:9477", "evidence": [ { "id": "9477", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9477" } ], "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": "glandular epithelial cell development", "id": "GO:0002068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002068", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "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": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "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": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "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": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "retinoic acid receptor signaling pathway", "id": "GO:0048384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048384", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "embryonic morphogenesis", "id": "GO:0048598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048598", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "negative regulation of cell differentiation", "id": "GO:0045596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045596", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "embryonic organ development", "id": "GO:0048568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048568", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "negative regulation of cartilage development", "id": "GO:0061037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061037", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "growth plate cartilage development", "id": "GO:0003417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003417", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "ventricular cardiac muscle cell differentiation", "id": "GO:0055012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055012", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "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": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "embryonic digestive tract development", "id": "GO:0048566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048566", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "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": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "embryonic eye morphogenesis", "id": "GO:0048048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048048", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "embryonic hindlimb morphogenesis", "id": "GO:0035116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035116", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "regulation of myelination", "id": "GO:0031641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031641", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "neurogenesis", "id": "GO:0022008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022008", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "neural precursor cell proliferation", "id": "GO:0061351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061351", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "striatum development", "id": "GO:0021756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021756", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "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": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "retinal pigment epithelium development", "id": "GO:0003406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003406", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "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": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" } ], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "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": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "nuclear receptor activity", "id": "GO:0004879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004879", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "DNA-binding transcription 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"pmid": "" }, { "name": "nuclear retinoid X receptor binding", "id": "GO:0046965", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046965", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "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": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" }, { "name": "heterocyclic compound binding", "id": "GO:1901363", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901363", "evidence": [ { "database": "UniProtKB", "id": "D3ZFD9", "url": "https://www.uniprot.org/uniprotkb/D3ZFD9" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZFD9-1" }, { "uniprot_canonical_ac": "D3ZFE0-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZFE0", "url": "https://www.uniprot.org/uniprotkb/D3ZFE0" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 314, "chemical_mass": 35184.0, "gene_names": "Or1a1b;Olr1514;Or1a1b;ratchr10-61507754-61506810_ORF", "protein_name": "", "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": "D3ZFE0", "url": "https://www.uniprot.org/uniprotkb/D3ZFE0" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "D3ZFE0", "url": "https://www.uniprot.org/uniprotkb/D3ZFE0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", 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"" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "D4ABK7", "url": "https://www.uniprot.org/uniprotkb/D4ABK7" } ], "pmid": "" }, { "name": "regulation of RNA splicing", "id": "GO:0043484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043484", "evidence": [ { "database": "UniProtKB", "id": "D4ABK7", "url": "https://www.uniprot.org/uniprotkb/D4ABK7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "D4ABK7", "url": "https://www.uniprot.org/uniprotkb/D4ABK7" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "D4ABK7", "url": "https://www.uniprot.org/uniprotkb/D4ABK7" } ], "pmid": "" }, { "name": 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"" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F1LYI7-1" }, { "uniprot_canonical_ac": "D4A031-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A031", "url": "https://www.uniprot.org/uniprotkb/D4A031" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 929, "chemical_mass": 102067.0, "gene_names": "Ddx42;Ddx42", "protein_name": "ATP-dependent RNA helicase DDX42", "disease": [ { "disease_id": "DOID:0050908", "name": "myelodysplastic syndrome", "description": "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets.", "url": "https://disease-ontology.org/term/DOID:0050908", "evidence": [ { "id": "0050908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050908" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", 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process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "D4ADE8", "url": "https://www.uniprot.org/uniprotkb/D4ADE8" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "D4ADE8", "url": "https://www.uniprot.org/uniprotkb/D4ADE8" } ], "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": "D4ADE8", "url": "https://www.uniprot.org/uniprotkb/D4ADE8" } ], "pmid": "" }, { "name": "lipid homeostasis", "id": "GO:0055088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055088", "evidence": [ { "database": "UniProtKB", "id": "D4ADE8", "url": "https://www.uniprot.org/uniprotkb/D4ADE8" } ], "pmid": "" }, { "name": "positive regulation of non-canonical NF-kappaB signal transduction", "id": "GO:1901224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901224", "evidence": [ { "database": "UniProtKB", "id": "D4ADE8", "url": "https://www.uniprot.org/uniprotkb/D4ADE8" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "D4ADE8", "url": "https://www.uniprot.org/uniprotkb/D4ADE8" } ], "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": "D4ADE8", "url": "https://www.uniprot.org/uniprotkb/D4ADE8" } ], "pmid": "" }, { "name": "translational initiation", "id": "GO:0006413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006413", "evidence": [ { "database": "UniProtKB", "id": "D4ADE8", "url": "https://www.uniprot.org/uniprotkb/D4ADE8" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "D4ADE8", "url": "https://www.uniprot.org/uniprotkb/D4ADE8" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "D4ADE8", "url": "https://www.uniprot.org/uniprotkb/D4ADE8" } ], "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": "D4ADE8", "url": "https://www.uniprot.org/uniprotkb/D4ADE8" } ], "pmid": "" }, { "name": "negative regulation of translation", "id": "GO:0017148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017148", "evidence": [ { "database": "UniProtKB", "id": "D4ADE8", "url": "https://www.uniprot.org/uniprotkb/D4ADE8" } ], "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": "D4ADE8", "url": "https://www.uniprot.org/uniprotkb/D4ADE8" } ], "pmid": "" }, { "name": "positive regulation of translation", "id": "GO:0045727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045727", "evidence": [ { "database": "UniProtKB", "id": "D4ADE8", "url": "https://www.uniprot.org/uniprotkb/D4ADE8" } ], "pmid": "" }, { "name": "positive regulation of G1/S transition of mitotic cell cycle", "id": "GO:1900087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900087", "evidence": [ { "database": "UniProtKB", "id": "D4ADE8", "url": "https://www.uniprot.org/uniprotkb/D4ADE8" } ], "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", 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unpleasant sensations in the legs and the irresistible urge to move them.", "url": "https://disease-ontology.org/term/DOID:0050425", "evidence": [ { "id": "0050425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050425" } ], "weight": 0.0 }, { "disease_id": "DOID:0050567", "name": "orofacial cleft", "description": "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.", "url": "https://disease-ontology.org/term/DOID:0050567", "evidence": [ { "id": "0050567", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050567" } ], "weight": 0.0 }, { "disease_id": "DOID:0111697", "name": "cleft palate, cardiac defects, and intellectual disability", "description": "A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in 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"" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "D4A2T5", "url": "https://www.uniprot.org/uniprotkb/D4A2T5" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of cell population proliferation", "id": "GO:0008284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "evidence": [ { "database": "UniProtKB", "id": "D4A2T5", "url": "https://www.uniprot.org/uniprotkb/D4A2T5" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "D4A2T5", "url": "https://www.uniprot.org/uniprotkb/D4A2T5" } ], "pmid": "" }, { "name": "positive regulation of mitotic cell cycle", "id": "GO:0045931", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045931", "evidence": [ { "database": "UniProtKB", "id": "D4A2T5", "url": 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"gene_names": "Tmprss5", "protein_name": "Transmembrane protease serine 5", "disease": [], "molecular_function": [ { "name": "serine-type endopeptidase activity", "id": "GO:0004252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004252", "evidence": [ { "database": "UniProtKB", "id": "F1LSP0", "url": "https://www.uniprot.org/uniprotkb/F1LSP0" } ], "pmid": "" }, { "name": "peptidase activity", "id": "GO:0008233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008233", "evidence": [ { "database": "UniProtKB", "id": "F1LSP0", "url": "https://www.uniprot.org/uniprotkb/F1LSP0" } ], "pmid": "" }, { "name": "serine-type peptidase activity", "id": "GO:0008236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008236", "evidence": [ { "database": "UniProtKB", "id": "F1LSP0", "url": "https://www.uniprot.org/uniprotkb/F1LSP0" } ], "pmid": "" } ], "biological_process": [ { "name": "proteolysis", "id": "GO:0006508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006508", "evidence": [ { "database": 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"species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A1D5", "url": "https://www.uniprot.org/uniprotkb/D4A1D5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 385, "chemical_mass": 43716.0, "gene_names": "Marveld3;Marveld3;RGD1562056", "protein_name": "", "disease": [], "cellular_component": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "D4A1D5", "url": "https://www.uniprot.org/uniprotkb/D4A1D5" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D4A1D5", "url": "https://www.uniprot.org/uniprotkb/D4A1D5" } ], "pmid": "" }, { "name": "bicellular tight junction", "id": "GO:0005923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005923", "evidence": [ { 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"https://www.uniprot.org/uniprotkb/D3ZS97" } ], "pmid": "" }, { "name": "positive regulation of Fc receptor mediated stimulatory signaling pathway", "id": "GO:0060369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060369", "evidence": [ { "database": "UniProtKB", "id": "D3ZS97", "url": "https://www.uniprot.org/uniprotkb/D3ZS97" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZS97-1" }, { "uniprot_canonical_ac": "D3ZSC1-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZSC1", "url": "https://www.uniprot.org/uniprotkb/D3ZSC1" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 621, "chemical_mass": 67555.0, "gene_names": "Susd5;RGD1561132;Susd5", "protein_name": "", "disease": [], "biological_process": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { 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], "pmid": "" } ], "biological_process": [ { "name": "detection of chemical stimulus involved in sensory perception of smell", "id": "GO:0050911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050911", "evidence": [ { "database": "UniProtKB", "id": "D3ZSH1", "url": "https://www.uniprot.org/uniprotkb/D3ZSH1" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZSH1-1" }, { "uniprot_canonical_ac": "D3ZST9-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZST9", "url": "https://www.uniprot.org/uniprotkb/D3ZST9" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 322, "chemical_mass": 36247.0, "gene_names": "Or52b2;Olr202;Or52b2", "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", 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apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "D3ZVH0", "url": "https://www.uniprot.org/uniprotkb/D3ZVH0" } ], "pmid": "" }, { "name": "protein export from nucleus", "id": "GO:0006611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006611", "evidence": [ { "database": "UniProtKB", "id": "D3ZVH0", "url": "https://www.uniprot.org/uniprotkb/D3ZVH0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D3ZVH0-1" }, { "uniprot_canonical_ac": "D3ZVM7-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZVM7", "url": "https://www.uniprot.org/uniprotkb/D3ZVM7" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 247, "chemical_mass": 26528.0, "gene_names": "Mdfic;Kdt1;Mdfic", "protein_name": "", "disease": [ { 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"" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "D4A0E8", "url": "https://www.uniprot.org/uniprotkb/D4A0E8" } ], "pmid": "" }, { "name": "spliceosomal snRNP assembly", "id": "GO:0000387", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000387", "evidence": [ { "database": "UniProtKB", "id": "D4A0E8", "url": "https://www.uniprot.org/uniprotkb/D4A0E8" } ], "pmid": "" }, { "name": "DNA-templated transcription termination", "id": "GO:0006353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006353", "evidence": [ { "database": "UniProtKB", "id": "D4A0E8", "url": "https://www.uniprot.org/uniprotkb/D4A0E8" } ], "pmid": "" }, { "name": "peptidyl-arginine N-methylation", "id": "GO:0035246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035246", "evidence": [ { "database": "UniProtKB", "id": "D4A0E8", "url": "https://www.uniprot.org/uniprotkb/D4A0E8" } ], "pmid": 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"https://www.uniprot.org/uniprotkb/D4A5D3" } ], "pmid": "" } ], "biological_process": [ { "name": "chromosome segregation", "id": "GO:0007059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007059", "evidence": [ { "database": "UniProtKB", "id": "D4A5D3", "url": "https://www.uniprot.org/uniprotkb/D4A5D3" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "D4A5D3", "url": "https://www.uniprot.org/uniprotkb/D4A5D3" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "D4A5D3", "url": "https://www.uniprot.org/uniprotkb/D4A5D3" } ], "pmid": "" }, { "name": "meiotic sister chromatid cohesion, centromeric", "id": "GO:0051754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051754", "evidence": [ { "database": "UniProtKB", "id": "D4A5D3", "url": "https://www.uniprot.org/uniprotkb/D4A5D3" } ], "pmid": "" }, { "name": "mitotic spindle assembly checkpoint signaling", "id": "GO:0007094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007094", "evidence": [ { "database": "UniProtKB", "id": "D4A5D3", "url": "https://www.uniprot.org/uniprotkb/D4A5D3" } ], "pmid": "" }, { "name": "positive regulation of intrinsic apoptotic signaling pathway", "id": "GO:2001244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001244", "evidence": [ { "database": "UniProtKB", "id": "D4A5D3", "url": "https://www.uniprot.org/uniprotkb/D4A5D3" } ], "pmid": "" }, { "name": "regulation of chromosome segregation", "id": "GO:0051983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051983", "evidence": [ { "database": "UniProtKB", "id": "D4A5D3", "url": "https://www.uniprot.org/uniprotkb/D4A5D3" } ], "pmid": "" }, { "name": "regulation of sister chromatid cohesion", "id": "GO:0007063", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007063", "evidence": [ { "database": "UniProtKB", "id": "D4A5D3", "url": "https://www.uniprot.org/uniprotkb/D4A5D3" } ], "pmid": "" }, { "name": "positive regulation of maintenance of mitotic sister chromatid cohesion, centromeric", "id": "GO:2000720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000720", "evidence": [ { "database": "UniProtKB", "id": "D4A5D3", "url": "https://www.uniprot.org/uniprotkb/D4A5D3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4A5D3-1" }, { "uniprot_canonical_ac": "D4A5E4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A5E4", "url": "https://www.uniprot.org/uniprotkb/D4A5E4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 377, "chemical_mass": 42251.0, "gene_names": "Ccni;Ccni", "protein_name": "Cyclin-I", "disease": [], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": 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"familial partial lipodystrophy", "description": "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.", "url": "https://disease-ontology.org/term/DOID:0050440", "evidence": [ { "id": "0050440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050440" } ], "weight": 0.0 }, { "disease_id": "DOID:0060762", "name": "restrictive dermopathy", "description": "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life.", "url": "https://disease-ontology.org/term/DOID:0060762", "evidence": [ { "id": "0060762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060762" } ], "weight": 0.0 }, { "disease_id": "DOID:0070369", "name": "restrictive dermopathy 1", "description": "A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.", "url": "https://disease-ontology.org/term/DOID:0070369", "evidence": [ { "id": "0070369", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070369" } ], "weight": 0.0 }, { "disease_id": "DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five specified cardiometabolic risk factors and no other discernible cause with normal to no alcohol use. The five cardiometabolic risk factors are: (1) higher than normal body mass index or waist circumference; (2) higher than normal serum glucose or glycated hemoglobin level, or type 2 diabetes; (3) higher than normal blood pressure or hypertensive treatment; (4) higher than normal plasma triglycerides or lipid lowering treatment; and (5) lower than normal plasma high-density lipoprotein cholesterol.", "url": "https://disease-ontology.org/term/DOID:0080208", "evidence": [ { "id": "0080208", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ], "weight": 0.0 }, { "disease_id": "DOID:0081129", "name": "mandibuloacral dysplasia type B lipodystrophy", "description": "A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities.", "url": "https://disease-ontology.org/term/DOID:0081129", "evidence": [ { "id": "0081129", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081129" } ], "weight": 0.0 }, { "disease_id": "DOID:11726", "name": "Emery-Dreifuss muscular dystrophy", "description": "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.", "url": "https://disease-ontology.org/term/DOID:11726", "evidence": [ { "id": "11726", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11726" } ], "weight": 0.0 }, { "disease_id": "DOID:3911", "name": "progeria", "description": "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22.", "url": "https://disease-ontology.org/term/DOID:3911", "evidence": [ { "id": "3911", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3911" } ], "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 } ], "biological_process": [ { "name": "CAAX-box protein processing", "id": "GO:0071586", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071586", "evidence": [ { "database": "UniProtKB", "id": "D4A5K6", "url": "https://www.uniprot.org/uniprotkb/D4A5K6" } ], "pmid": "" }, { "name": "negative regulation of miRNA processing", "id": "GO:1903799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903799", "evidence": [ { "database": "UniProtKB", "id": "D4A5K6", "url": "https://www.uniprot.org/uniprotkb/D4A5K6" } ], "pmid": "" }, { "name": "kidney morphogenesis", "id": "GO:0060993", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060993", "evidence": [ { "database": "UniProtKB", "id": "D4A5K6", "url": "https://www.uniprot.org/uniprotkb/D4A5K6" } ], "pmid": "" }, { "name": "regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043516", "evidence": [ { "database": "UniProtKB", "id": "D4A5K6", "url": "https://www.uniprot.org/uniprotkb/D4A5K6" } ], "pmid": "" }, { "name": "cardiac ventricle development", "id": "GO:0003231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003231", "evidence": [ { "database": "UniProtKB", "id": "D4A5K6", "url": "https://www.uniprot.org/uniprotkb/D4A5K6" } ], "pmid": "" }, { "name": "positive regulation of gene expression via chromosomal CpG island demethylation", "id": "GO:0044029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044029", "evidence": [ { "database": "UniProtKB", "id": "D4A5K6", "url": "https://www.uniprot.org/uniprotkb/D4A5K6" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "D4A5K6", "url": "https://www.uniprot.org/uniprotkb/D4A5K6" } ], "pmid": "" }, { "name": "DNA repair", "id": "GO:0006281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006281", "evidence": [ { "database": "UniProtKB", "id": "D4A5K6", "url": "https://www.uniprot.org/uniprotkb/D4A5K6" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "D4A5K6", "url": "https://www.uniprot.org/uniprotkb/D4A5K6" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", 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"uniprot_canonical_ac": "D4A670-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A670", "url": "https://www.uniprot.org/uniprotkb/D4A670" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 368, "chemical_mass": 41754.0, "gene_names": "Lefty1;Lefty1;RGD1561867", "protein_name": "Left-right determination factor", "disease": [ { "disease_id": "DOID:1682", "name": "congenital heart disease", "description": "A physical disorder that is characterized by problems with the heart's structure that are present at birth.", "url": "https://disease-ontology.org/term/DOID:1682", "evidence": [ { "id": "1682", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1682" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of nodal signaling pathway", "id": "GO:1900108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900108", "evidence": 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"url": "https://www.uniprot.org/uniprotkb/D4A8X5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4A8X5-1" }, { "uniprot_canonical_ac": "D4A951-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A951", "url": "https://www.uniprot.org/uniprotkb/D4A951" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 268, "chemical_mass": 31010.0, "gene_names": "C17h9orf153;C17h9orf153;LOC100912252;LOC683621", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4A951-1" }, { "uniprot_canonical_ac": "D4A997-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A997", "url": "https://www.uniprot.org/uniprotkb/D4A997" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 776, "chemical_mass": 88624.0, "gene_names": "Htatsf1;Htatsf1;RGD1563377", "protein_name": "17S U2 SnRNP complex component HTATSF1", "disease": [], "biological_process": [ { "name": "protein localization to site of double-strand break", "id": "GO:1990166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990166", "evidence": [ { "database": "UniProtKB", "id": "D4A997", "url": "https://www.uniprot.org/uniprotkb/D4A997" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "D4A997", "url": "https://www.uniprot.org/uniprotkb/D4A997" } ], "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": "D4A997", "url": "https://www.uniprot.org/uniprotkb/D4A997" } ], "pmid": "" }, { "name": "mRNA splicing, via spliceosome", "id": "GO:0000398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000398", "evidence": [ { "database": "UniProtKB", "id": "D4A997", "url": "https://www.uniprot.org/uniprotkb/D4A997" } ], "pmid": "" }, { "name": "U2-type prespliceosome assembly", "id": "GO:1903241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903241", "evidence": [ { "database": "UniProtKB", "id": "D4A997", "url": "https://www.uniprot.org/uniprotkb/D4A997" } ], "pmid": "" } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "D4A997", "url": "https://www.uniprot.org/uniprotkb/D4A997" } ], "pmid": "" }, { "name": "chromatin-protein adaptor activity", "id": "GO:0140463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140463", "evidence": [ { "database": "UniProtKB", "id": "D4A997", "url": "https://www.uniprot.org/uniprotkb/D4A997" } ], "pmid": "" }, { "name": "poly-ADP-D-ribose modification-dependent protein binding", "id": "GO:0160004", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160004", "evidence": [ { "database": "UniProtKB", "id": "D4A997", "url": "https://www.uniprot.org/uniprotkb/D4A997" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "D4A997", "url": "https://www.uniprot.org/uniprotkb/D4A997" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "D4A997", "url": "https://www.uniprot.org/uniprotkb/D4A997" } ], "pmid": "" }, { "name": "U2 snRNP", "id": "GO:0005686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005686", "evidence": [ { "database": "UniProtKB", "id": "D4A997", "url": "https://www.uniprot.org/uniprotkb/D4A997" } ], "pmid": "" }, { "name": "U2-type spliceosomal complex", "id": "GO:0005684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005684", "evidence": [ { "database": "UniProtKB", "id": "D4A997", "url": "https://www.uniprot.org/uniprotkb/D4A997" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4A997-1" }, { "uniprot_canonical_ac": "D4A9G4-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 530, "chemical_mass": 60359.0, "gene_names": "Tyr;Tyr", "protein_name": "Tyrosinase", "disease": [ { "disease_id": "DOID:0050632", "name": "oculocutaneous albinism", "description": "A syndrome characterized by abnormal pigmentation of the skin, hair and eyes.", "url": "https://disease-ontology.org/term/DOID:0050632", "evidence": [ { "id": "0050632", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050632" } ], "weight": 0.0 }, { "disease_id": "DOID:0050633", "name": "ocular albinism 1", "description": "An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin.", "url": "https://disease-ontology.org/term/DOID:0050633", "evidence": [ { "id": "0050633", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050633" } ], "weight": 0.0 }, { "disease_id": "DOID:0070094", "name": "oculocutaneous albinism type IA", "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity.", "url": "https://disease-ontology.org/term/DOID:0070094", "evidence": [ { "id": "0070094", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070094" } ], "weight": 0.0 }, { "disease_id": "DOID:0070095", "name": "oculocutaneous albinism type IB", "description": "An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity.", "url": "https://disease-ontology.org/term/DOID:0070095", "evidence": [ { "id": "0070095", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070095" } ], "weight": 0.0 }, { "disease_id": "DOID:10123", "name": "pigmentation disease", "description": "A skin disease that is characterized by discoloration of the skin.", "url": "https://disease-ontology.org/term/DOID:10123", "evidence": [ { "id": "10123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10123" } ], "weight": 0.0 }, { "disease_id": "DOID:11211", "name": "buphthalmos", "description": "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss.", "url": "https://disease-ontology.org/term/DOID:11211", "evidence": [ { "id": "11211", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11211" } ], "weight": 0.0 }, { "disease_id": "DOID:12306", "name": "vitiligo", "description": "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.", "url": "https://disease-ontology.org/term/DOID:12306", "evidence": [ { "id": "12306", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12306" } ], "weight": 0.0 }, { "disease_id": "DOID:13399", "name": "color blindness", "description": "A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.", "url": "https://disease-ontology.org/term/DOID:13399", "evidence": [ { "id": "13399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13399" } ], "weight": 0.0 }, { "disease_id": "DOID:1909", "name": "melanoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye.", "url": "https://disease-ontology.org/term/DOID:1909", "evidence": [ { "id": "1909", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1909" } ], "weight": 0.0 }, { "disease_id": "DOID:8465", "name": "retinoschisis", "description": "", "url": "https://disease-ontology.org/term/DOID:8465", "evidence": [ { "id": "8465", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8465" } ], "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 } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "pmid": "" }, { "name": "melanosome membrane", "id": "GO:0033162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033162", "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "pmid": "" } ], "biological_process": [ { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "pmid": "" }, { "name": "thymus development", "id": "GO:0048538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048538", "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "pmid": "" }, { "name": "response to UV", "id": "GO:0009411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009411", "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "pmid": "" }, { "name": "response to cAMP", "id": "GO:0051591", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051591", "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "pmid": "" }, { "name": "response to vitamin D", "id": "GO:0033280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033280", "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "pmid": "" }, { "name": "pigmentation", "id": "GO:0043473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043473", "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "pmid": "" }, { "name": "melanin biosynthetic process", "id": "GO:0042438", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042438", "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "pmid": "" }, { "name": "response to blue light", "id": "GO:0009637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009637", "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "pmid": "" } ], "molecular_function": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "pmid": "" }, { "name": "tyrosinase activity", "id": "GO:0004503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004503", "evidence": [ { "database": "UniProtKB", "id": "D4A9G4", "url": "https://www.uniprot.org/uniprotkb/D4A9G4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4A9G4-1" }, { "uniprot_canonical_ac": "D4A9L2-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4A9L2", "url": "https://www.uniprot.org/uniprotkb/D4A9L2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 248, "chemical_mass": 27745.0, "gene_names": "Srsf1;Sfrs1;Srsf1", "protein_name": "Serine/arginine-rich splicing factor 1", "disease": [ { "disease_id": "DOID:0070513", "name": "neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22.", "url": "https://disease-ontology.org/term/DOID:0070513", "evidence": [ { "id": "0070513", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070513" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "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:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "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: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: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: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:633", "name": "myositis", 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"D4ADX7", "url": "https://www.uniprot.org/uniprotkb/D4ADX7" } ], "pmid": "" }, { "name": "potassium ion transmembrane transport", "id": "GO:0071805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071805", "evidence": [ { "database": "UniProtKB", "id": "D4ADX7", "url": "https://www.uniprot.org/uniprotkb/D4ADX7" } ], "pmid": "" } ], "molecular_function": [ { "name": "potassium channel regulator activity", "id": "GO:0015459", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015459", "evidence": [ { "database": "UniProtKB", "id": "D4ADX7", "url": "https://www.uniprot.org/uniprotkb/D4ADX7" } ], "pmid": "" }, { "name": "voltage-gated potassium channel activity", "id": "GO:0005249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005249", "evidence": [ { "database": "UniProtKB", "id": "D4ADX7", "url": "https://www.uniprot.org/uniprotkb/D4ADX7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4ADX7-1" }, { "uniprot_canonical_ac": "D4AE11-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4AE11", "url": "https://www.uniprot.org/uniprotkb/D4AE11" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 232, "chemical_mass": 25025.0, "gene_names": "Pcgf6l1;Pcgf6l1;RGD1562871", "protein_name": "", "disease": [], "molecular_function": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "D4AE11", "url": "https://www.uniprot.org/uniprotkb/D4AE11" } ], "pmid": "" } ], "cellular_component": [ { "name": "PcG protein complex", "id": "GO:0031519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031519", "evidence": [ { "database": "UniProtKB", "id": "D4AE11", "url": "https://www.uniprot.org/uniprotkb/D4AE11" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4AE11-1" }, { "uniprot_canonical_ac": "D4AE21-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4AE21", "url": "https://www.uniprot.org/uniprotkb/D4AE21" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 419, "chemical_mass": 45420.0, "gene_names": "Mansc1;Mansc1", "protein_name": "", "disease": [], "cellular_component": [ { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "D4AE21", "url": "https://www.uniprot.org/uniprotkb/D4AE21" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "D4AE21", "url": "https://www.uniprot.org/uniprotkb/D4AE21" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "D4AE21-1", "start_pos": "226", "end_pos": "226", "site_lbl": "Thr226", "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": 226, "start_aa": "Thr", "end_pos": 226, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr226", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "D4AE21-1" }, { "uniprot_canonical_ac": "D4AE24-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4AE24", "url": "https://www.uniprot.org/uniprotkb/D4AE24" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 444, "chemical_mass": 49348.0, "gene_names": "Rps6kb2;Rps6kb2", "protein_name": "Ribosomal protein S6 kinase beta-2", "disease": [ { "disease_id": "DOID:0050741", "name": "alcohol dependence", "description": "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol.", "url": "https://disease-ontology.org/term/DOID:0050741", "evidence": [ { "id": "0050741", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050741" } ], "weight": 0.0 }, { "disease_id": "DOID:4194", "name": "glucose metabolism disease", "description": "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.", "url": "https://disease-ontology.org/term/DOID:4194", "evidence": [ { "id": "4194", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4194" } ], "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 } ], "biological_process": [ { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "D4AE24", "url": "https://www.uniprot.org/uniprotkb/D4AE24" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "D4AE24", "url": "https://www.uniprot.org/uniprotkb/D4AE24" } ], "pmid": "" }, { "name": "TOR signaling", "id": "GO:0031929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031929", "evidence": [ { "database": "UniProtKB", "id": "D4AE24", "url": "https://www.uniprot.org/uniprotkb/D4AE24" } ], "pmid": "" }, { "name": "TORC1 signaling", "id": "GO:0038202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038202", "evidence": [ { "database": "UniProtKB", "id": "D4AE24", "url": "https://www.uniprot.org/uniprotkb/D4AE24" } ], "pmid": "" }, { "name": "positive regulation of translational initiation", "id": "GO:0045948", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045948", "evidence": [ { "database": "UniProtKB", "id": "D4AE24", "url": "https://www.uniprot.org/uniprotkb/D4AE24" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "D4AE24", "url": "https://www.uniprot.org/uniprotkb/D4AE24" } ], "pmid": "" }, { "name": "negative regulation of signal transduction", "id": "GO:0009968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009968", "evidence": [ { "database": "UniProtKB", "id": "D4AE24", "url": "https://www.uniprot.org/uniprotkb/D4AE24" } ], "pmid": "" } ], "molecular_function": [ { "name": "ribosomal protein S6 kinase activity", "id": "GO:0004711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004711", "evidence": [ { "database": "UniProtKB", "id": "D4AE24", "url": "https://www.uniprot.org/uniprotkb/D4AE24" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "D4AE24", "url": "https://www.uniprot.org/uniprotkb/D4AE24" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "D4AE24", "url": "https://www.uniprot.org/uniprotkb/D4AE24" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "D4AE24", "url": "https://www.uniprot.org/uniprotkb/D4AE24" } ], "pmid": "" }, { "name": "peptide binding", "id": "GO:0042277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042277", "evidence": [ { "database": "UniProtKB", "id": "D4AE24", "url": "https://www.uniprot.org/uniprotkb/D4AE24" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "D4AE24", "url": "https://www.uniprot.org/uniprotkb/D4AE24" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "D4AE24", "url": "https://www.uniprot.org/uniprotkb/D4AE24" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "D4AE24", "url": "https://www.uniprot.org/uniprotkb/D4AE24" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "D4AE24-1" }, { "uniprot_canonical_ac": "D4AE25-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D4AE25", "url": "https://www.uniprot.org/uniprotkb/D4AE25" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 290, "chemical_mass": 33047.0, "gene_names": "Cd274;Cd274;Pdcd1lg1;RGD1566211", "protein_name": "Programmed cell death 1 ligand 1", "disease": [ { "disease_id": "DOID:0050523", "name": "adult T-cell leukemia/lymphoma", "description": "A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in human T-cell leukemia virus type 1 (Deltaretrovirus priTlym1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions.", "url": "https://disease-ontology.org/term/DOID:0050523", "evidence": [ { "id": "0050523", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050523" } ], "weight": 0.0 }, { "disease_id": "DOID:0061164", "name": "infantile onset multisystem autoimmune disease 5", "description": "An infantile onset multisystem autoimmune disease characterized predominantly by neonatal-onset type 1 diabetes mellitus due to complete insulin deficiency that has_material_basis_in homozygous mutation in the PDL1 gene on chromosome 9p24.", "url": "https://disease-ontology.org/term/DOID:0061164", "evidence": [ { "id": "0061164", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061164" } ], "weight": 0.0 }, { "disease_id": "DOID:0080159", "name": "Cryptococcal meningitis", "description": "A fungal meningitis that has_material_basis_in Crypococcus fungal infection.", "url": "https://disease-ontology.org/term/DOID:0080159", "evidence": [ { "id": "0080159", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080159" } ], "weight": 0.0 }, { "disease_id": "DOID:0080797", "name": "nasal type extranodal NK/T-cell lymphoma", "description": "A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells.", "url": "https://disease-ontology.org/term/DOID:0080797", "evidence": [ { "id": "0080797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080797" } ], "weight": 0.0 }, { "disease_id": "DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "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: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:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities.", "url": "https://disease-ontology.org/term/DOID:14115", "evidence": [ { "id": "14115", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ], "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:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "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: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: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:824", "name": "periodontitis", "description": "", "url": "https://disease-ontology.org/term/DOID:824", "evidence": [ { "id": "824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:824" } ], "weight": 0.0 }, { "disease_id": "DOID:8469", "name": "influenza", "description": "A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A (Alphainfluenzavirus), has_material_basis_in Influenzavirus B (Betainfluenzavirus), or has_material_basis_in Influenzavirus C (Gammainfluenzavirus), which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness.", "url": "https://disease-ontology.org/term/DOID:8469", "evidence": [ { "id": "8469", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8469" } ], "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 } ], "biological_process": [ { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "D4AE25", "url": 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"id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "carbohydrate binding", "id": "GO:0030246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030246", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "virus receptor activity", "id": "GO:0001618", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001618", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "virion binding", "id": "GO:0046790", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046790", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "signaling receptor activity", "id": "GO:0038023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "cell adhesion mediator activity", "id": "GO:0098631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098631", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" } ], "biological_process": [ { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "positive regulation of viral entry into host cell", "id": "GO:0046598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046598", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "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": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "symbiont entry into host cell", "id": "GO:0046718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046718", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "regulation of synapse assembly", "id": "GO:0051963", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051963", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "homophilic cell adhesion via plasma membrane adhesion molecules", "id": "GO:0007156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007156", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules", "id": "GO:0007157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007157", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "enamel mineralization", "id": "GO:0070166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070166", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "iron ion transport", "id": "GO:0006826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006826", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "lens morphogenesis in camera-type eye", "id": "GO:0002089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002089", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "regulation of synapse organization", "id": "GO:0050807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050807", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "desmosome organization", "id": "GO:0002934", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002934", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "cochlea morphogenesis", "id": "GO:0090103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090103", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" }, { "name": "protein localization to cell junction", "id": "GO:1902414", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902414", "evidence": [ { "database": "UniProtKB", "id": "F1LNP8", "url": "https://www.uniprot.org/uniprotkb/F1LNP8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "F1LNP8-1", "start_pos": "202", "end_pos": "202", "site_lbl": "Asn202", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 202, "start_aa": "Asn", "end_pos": 202, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn202", "evidence": [ { "id": "24090084", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24090084" }, { "id": "GLY_000221", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000221" } ] }, { "glytoucan_ac": "G08520NM", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: ASN-202 ; ASN-202", "icn3d_view": {}, "start_pos": 202, "start_aa": "Asn", "end_pos": 202, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn202", "evidence": [ { "id": "24090084", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24090084" }, { "id": "GLY_000221", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000221" } ] }, { "glytoucan_ac": "G39446WN", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 202, "start_aa": "Asn", "end_pos": 202, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn202", "evidence": [ { "id": "24090084", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24090084" }, { "id": "GLY_000221", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000221" } ] }, { "glytoucan_ac": "G55220VL", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "N", "relation": "attached", "comment": "GlycoSuiteDB curation notes. Reported structure can be attached to the following: ASN-202 ; ASN-202", "icn3d_view": {}, "start_pos": 202, "start_aa": "Asn", "end_pos": 202, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn202", "evidence": [ { "id": "24090084", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24090084" }, { "id": "GLY_000221", "database": "UniCarbKB", "url": "http://data.glygen.org/GLY_000221" } ] } ] }, { "uniprot_canonical_ac": "F1LNP8-1", "start_pos": "341", "end_pos": "341", "site_lbl": "Thr341", "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": 341, "start_aa": "Thr", "end_pos": 341, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr341", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "F1LNP8-1" }, { "uniprot_canonical_ac": "F1LPB5-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F1LPB5", "url": "https://www.uniprot.org/uniprotkb/F1LPB5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 215, "chemical_mass": 25122.0, "gene_names": "Kdelr3", "protein_name": "ER lumen protein-retaining receptor", "disease": [], "molecular_function": [ { "name": "KDEL sequence binding", "id": "GO:0005046", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005046", "evidence": [ { "database": "UniProtKB", "id": "F1LPB5", "url": "https://www.uniprot.org/uniprotkb/F1LPB5" } ], "pmid": "" }, { "name": "ER retention sequence binding", "id": "GO:0046923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046923", "evidence": [ { "database": "UniProtKB", "id": "F1LPB5", "url": "https://www.uniprot.org/uniprotkb/F1LPB5" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "F1LPB5", "url": "https://www.uniprot.org/uniprotkb/F1LPB5" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "F1LPB5", "url": "https://www.uniprot.org/uniprotkb/F1LPB5" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "F1LPB5", "url": "https://www.uniprot.org/uniprotkb/F1LPB5" } ], "pmid": "" }, { "name": "cis-Golgi network", "id": "GO:0005801", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005801", "evidence": [ { "database": "UniProtKB", "id": "F1LPB5", "url": "https://www.uniprot.org/uniprotkb/F1LPB5" } ], "pmid": "" }, { "name": "COPI-coated vesicle membrane", "id": "GO:0030663", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030663", "evidence": [ { "database": "UniProtKB", "id": "F1LPB5", "url": "https://www.uniprot.org/uniprotkb/F1LPB5" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "F1LPB5", "url": "https://www.uniprot.org/uniprotkb/F1LPB5" } ], "pmid": "" }, { "name": "retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum", "id": "GO:0006890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006890", "evidence": [ { "database": "UniProtKB", "id": "F1LPB5", "url": "https://www.uniprot.org/uniprotkb/F1LPB5" } ], "pmid": "" }, { "name": "protein retention in ER lumen", "id": "GO:0006621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006621", "evidence": [ { "database": "UniProtKB", "id": "F1LPB5", "url": "https://www.uniprot.org/uniprotkb/F1LPB5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F1LPB5-1" }, { "uniprot_canonical_ac": "F1LPI3-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F1LPI3", "url": "https://www.uniprot.org/uniprotkb/F1LPI3" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 510, "chemical_mass": 57350.0, "gene_names": "Gja10", "protein_name": "Gap junction protein", "disease": [], "biological_process": [ { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "F1LPI3", "url": "https://www.uniprot.org/uniprotkb/F1LPI3" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "F1LPI3", "url": "https://www.uniprot.org/uniprotkb/F1LPI3" } ], "pmid": "" }, { "name": "response to light stimulus", "id": "GO:0009416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009416", "evidence": [ { "database": "UniProtKB", "id": "F1LPI3", "url": "https://www.uniprot.org/uniprotkb/F1LPI3" } ], "pmid": "" }, { "name": "detection of light stimulus involved in visual perception", "id": "GO:0050908", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050908", "evidence": [ { "database": "UniProtKB", "id": "F1LPI3", "url": "https://www.uniprot.org/uniprotkb/F1LPI3" } ], "pmid": "" }, { "name": "gamete generation", "id": "GO:0007276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007276", "evidence": [ { "database": "UniProtKB", "id": "F1LPI3", "url": "https://www.uniprot.org/uniprotkb/F1LPI3" } ], "pmid": "" }, { "name": "cell communication", "id": "GO:0007154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007154", "evidence": [ { "database": "UniProtKB", "id": "F1LPI3", "url": "https://www.uniprot.org/uniprotkb/F1LPI3" } ], "pmid": "" } ], "cellular_component": [ { "name": "gap junction", "id": "GO:0005921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005921", "evidence": [ { "database": "UniProtKB", "id": "F1LPI3", "url": "https://www.uniprot.org/uniprotkb/F1LPI3" } ], "pmid": "" }, { "name": "connexin complex", "id": "GO:0005922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005922", "evidence": [ { "database": "UniProtKB", "id": "F1LPI3", "url": "https://www.uniprot.org/uniprotkb/F1LPI3" } ], "pmid": "" } ], "molecular_function": [ { "name": "gap junction channel activity", "id": "GO:0005243", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005243", "evidence": [ { "database": "UniProtKB", "id": "F1LPI3", "url": "https://www.uniprot.org/uniprotkb/F1LPI3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F1LPI3-1" }, { "uniprot_canonical_ac": "F1LPI5-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F1LPI5", "url": "https://www.uniprot.org/uniprotkb/F1LPI5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 1172, "chemical_mass": 129114.0, "gene_names": "Lamb3;Lamb3", "protein_name": "Laminin subunit beta-3", "disease": [ { "disease_id": "DOID:0060737", "name": "junctional epidermolysis bullosa Herlitz type", "description": "A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa.", "url": "https://disease-ontology.org/term/DOID:0060737", "evidence": [ { "id": "0060737", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060737" } ], "weight": 0.0 }, { "disease_id": "DOID:0060738", "name": "junctional epidermolysis bullosa non-Herlitz type", "description": "A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa.", "url": "https://disease-ontology.org/term/DOID:0060738", "evidence": [ { "id": "0060738", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060738" } ], "weight": 0.0 }, { "disease_id": "DOID:0110054", "name": "amelogenesis imperfecta type 1A", "description": "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0110054", "evidence": [ { "id": "0110054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110054" } ], "weight": 0.0 }, { "disease_id": "DOID:3209", "name": "junctional epidermolysis bullosa", "description": "An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin.", "url": "https://disease-ontology.org/term/DOID:3209", "evidence": [ { "id": "3209", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3209" } ], "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:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": 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"https://www.uniprot.org/uniprotkb/F1LYL9" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "F1LYL9", "url": "https://www.uniprot.org/uniprotkb/F1LYL9" } ], "pmid": "" }, { "name": "cellular response to interleukin-1", "id": "GO:0071347", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071347", "evidence": [ { "database": "UniProtKB", "id": "F1LYL9", "url": "https://www.uniprot.org/uniprotkb/F1LYL9" } ], "pmid": "" }, { "name": "cellular response to heparin", "id": "GO:0071504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071504", "evidence": [ { "database": "UniProtKB", "id": "F1LYL9", "url": "https://www.uniprot.org/uniprotkb/F1LYL9" } ], "pmid": "" }, { "name": "somatic stem cell population maintenance", "id": "GO:0035019", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035019", "evidence": [ { "database": "UniProtKB", "id": "F1LYL9", "url": "https://www.uniprot.org/uniprotkb/F1LYL9" } ], "pmid": "" }, { "name": "lung epithelial cell differentiation", "id": "GO:0060487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060487", "evidence": [ { "database": "UniProtKB", "id": "F1LYL9", "url": "https://www.uniprot.org/uniprotkb/F1LYL9" } ], "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": "F1LYL9", "url": "https://www.uniprot.org/uniprotkb/F1LYL9" } ], "pmid": "" }, { "name": "negative regulation of chondrocyte differentiation", "id": "GO:0032331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032331", "evidence": [ { "database": "UniProtKB", "id": "F1LYL9", "url": "https://www.uniprot.org/uniprotkb/F1LYL9" } ], "pmid": "" }, { "name": "mammary gland development", "id": "GO:0030879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030879", "evidence": [ { "database": "UniProtKB", 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"https://www.uniprot.org/uniprotkb/F1LYL9" } ], "pmid": "" }, { "name": "retinal rod cell differentiation", "id": "GO:0060221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060221", "evidence": [ { "database": "UniProtKB", "id": "F1LYL9", "url": "https://www.uniprot.org/uniprotkb/F1LYL9" } ], "pmid": "" }, { "name": "positive regulation of extracellular matrix assembly", "id": "GO:1901203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901203", "evidence": [ { "database": "UniProtKB", "id": "F1LYL9", "url": "https://www.uniprot.org/uniprotkb/F1LYL9" } ], "pmid": "" }, { "name": "positive regulation of chondrocyte proliferation", "id": "GO:1902732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902732", "evidence": [ { "database": "UniProtKB", "id": "F1LYL9", "url": "https://www.uniprot.org/uniprotkb/F1LYL9" } ], "pmid": "" }, { "name": "negative regulation of immune system process", "id": "GO:0002683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002683", "evidence": [ { 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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: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 } ], "cellular_component": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "F7F5P4", "url": "https://www.uniprot.org/uniprotkb/F7F5P4" } ], "pmid": "" }, { "name": "decoy receptor complex", "id": "GO:0140368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140368", "evidence": [ { "database": "UniProtKB", "id": "F7F5P4", "url": "https://www.uniprot.org/uniprotkb/F7F5P4" } ], "pmid": "" } ], "biological_process": [ { "name": "response to lipopolysaccharide", "id": "GO:0032496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032496", "evidence": [ { "database": "UniProtKB", "id": "F7F5P4", "url": "https://www.uniprot.org/uniprotkb/F7F5P4" } ], "pmid": "" }, { "name": "T-helper 1 type immune response", "id": "GO:0042088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042088", "evidence": [ { "database": "UniProtKB", "id": "F7F5P4", "url": "https://www.uniprot.org/uniprotkb/F7F5P4" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "F7F5P4", "url": "https://www.uniprot.org/uniprotkb/F7F5P4" } ], "pmid": "" }, { "name": "cellular response to tumor necrosis factor", "id": "GO:0071356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071356", "evidence": [ { "database": "UniProtKB", "id": "F7F5P4", "url": "https://www.uniprot.org/uniprotkb/F7F5P4" } ], "pmid": "" } ], "molecular_function": [ { "name": "interleukin-18 binding", "id": "GO:0042007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042007", "evidence": [ { "database": "UniProtKB", "id": "F7F5P4", "url": "https://www.uniprot.org/uniprotkb/F7F5P4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F7F5P4-1" }, { "uniprot_canonical_ac": "F7F6L0-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F7F6L0", "url": "https://www.uniprot.org/uniprotkb/F7F6L0" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 468, "chemical_mass": 53561.0, "gene_names": "Mgat4f;LOC289035;Mgat4e-like;Mgat4el;Mgat4f", "protein_name": "", "disease": [], "molecular_function": [ { "name": "acetylglucosaminyltransferase activity", "id": "GO:0008375", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008375", "evidence": [ { "database": "UniProtKB", "id": "F7F6L0", "url": "https://www.uniprot.org/uniprotkb/F7F6L0" } ], "pmid": "" } ], "biological_process": [ { "name": "protein N-linked glycosylation", "id": "GO:0006487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006487", "evidence": [ { "database": "UniProtKB", "id": "F7F6L0", "url": "https://www.uniprot.org/uniprotkb/F7F6L0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F7F6L0-1" }, { "uniprot_canonical_ac": "F7F7W7-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 109, "chemical_mass": 12128.0, "gene_names": "Cxcl13;Cxcl13", "protein_name": "", "disease": [], "biological_process": [ { "name": "regulation of Rap protein signal transduction", "id": "GO:0032487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032487", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "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": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "positive regulation of T cell chemotaxis", "id": "GO:0010820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010820", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "antimicrobial humoral immune response mediated by antimicrobial peptide", "id": "GO:0061844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061844", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "chemokine-mediated signaling pathway", "id": "GO:0070098", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070098", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "B cell chemotaxis", "id": "GO:0035754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035754", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "lymphocyte chemotaxis across high endothelial venule", "id": "GO:0002518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002518", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "positive regulation of integrin activation", "id": "GO:0033625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033625", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "endothelial cell chemotaxis to fibroblast growth factor", "id": "GO:0035768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035768", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "B cell chemotaxis across high endothelial venule", "id": "GO:0035769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035769", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell chemotaxis to fibroblast growth factor", "id": "GO:2000545", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000545", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "positive regulation of cell-cell adhesion mediated by integrin", "id": "GO:0033634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033634", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "neutrophil chemotaxis", "id": "GO:0030593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030593", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "lymph node development", "id": "GO:0048535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048535", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" } ], "molecular_function": [ { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "receptor ligand activity", "id": "GO:0048018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048018", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "fibroblast growth factor binding", "id": "GO:0017134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017134", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "CXCR5 chemokine receptor binding", "id": "GO:0031724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031724", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "chemokine activity", "id": "GO:0008009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008009", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "CCR10 chemokine receptor binding", "id": "GO:0031735", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031735", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "CXCR chemokine receptor binding", "id": "GO:0045236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045236", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" }, { "name": "CXCR3 chemokine receptor binding", "id": "GO:0048248", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048248", "evidence": [ { "database": "UniProtKB", "id": "F7F7W7", "url": "https://www.uniprot.org/uniprotkb/F7F7W7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "F7F7W7-1" }, { "uniprot_canonical_ac": "F7FD99-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ 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"https://www.uniprot.org/uniprotkb/G3V672" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "G3V672", "url": "https://www.uniprot.org/uniprotkb/G3V672" } ], "pmid": "" }, { "name": "lipid storage", "id": "GO:0019915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019915", "evidence": [ { "database": "UniProtKB", "id": "G3V672", "url": "https://www.uniprot.org/uniprotkb/G3V672" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "G3V672", "url": "https://www.uniprot.org/uniprotkb/G3V672" } ], "pmid": "" }, { "name": "cellular response to estradiol stimulus", "id": "GO:0071392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071392", "evidence": [ { "database": "UniProtKB", "id": "G3V672", "url": "https://www.uniprot.org/uniprotkb/G3V672" } ], "pmid": "" }, { "name": "ovulation", "id": "GO:0030728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030728", "evidence": [ { "database": "UniProtKB", "id": "G3V672", "url": "https://www.uniprot.org/uniprotkb/G3V672" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "G3V672", "url": "https://www.uniprot.org/uniprotkb/G3V672" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "G3V672", "url": "https://www.uniprot.org/uniprotkb/G3V672" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "G3V672", "url": "https://www.uniprot.org/uniprotkb/G3V672" } ], "pmid": "" }, { "name": "nuclear glucocorticoid receptor binding", "id": "GO:0035259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035259", "evidence": [ { "database": "UniProtKB", "id": "G3V672", "url": "https://www.uniprot.org/uniprotkb/G3V672" } ], "pmid": "" }, { "name": "histone deacetylase binding", "id": "GO:0042826", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042826", "evidence": [ { "database": "UniProtKB", "id": "G3V672", "url": "https://www.uniprot.org/uniprotkb/G3V672" } ], "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": "G3V672", "url": "https://www.uniprot.org/uniprotkb/G3V672" } ], "pmid": "" }, { "name": "nuclear estrogen receptor binding", "id": "GO:0030331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030331", "evidence": [ { "database": 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binding", "id": "GO:0003697", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003697", "evidence": [ { "database": "UniProtKB", "id": "G3V681", "url": "https://www.uniprot.org/uniprotkb/G3V681" } ], "pmid": "" }, { "name": "DNA helicase activity", "id": "GO:0003678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003678", "evidence": [ { "database": "UniProtKB", "id": "G3V681", "url": "https://www.uniprot.org/uniprotkb/G3V681" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "G3V681", "url": "https://www.uniprot.org/uniprotkb/G3V681" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "G3V681", "url": "https://www.uniprot.org/uniprotkb/G3V681" } ], "pmid": "" }, { "name": "MCM complex", "id": "GO:0042555", "url": 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"" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "G3V6G8", "url": "https://www.uniprot.org/uniprotkb/G3V6G8" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "G3V6G8", "url": "https://www.uniprot.org/uniprotkb/G3V6G8" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "G3V6G8", "url": "https://www.uniprot.org/uniprotkb/G3V6G8" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "G3V6G8", "url": "https://www.uniprot.org/uniprotkb/G3V6G8" } ], "pmid": "" } ], "biological_process": [ { "name": "negative 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"Omenn syndrome", "description": "A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly.", "url": "https://disease-ontology.org/term/DOID:0060010", "evidence": [ { "id": "0060010", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060010" } ], "weight": 0.0 }, { "disease_id": "DOID:0090013", "name": "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive", "description": "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12.", "url": "https://disease-ontology.org/term/DOID:0090013", "evidence": [ { "id": "0090013", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090013" } ], "weight": 0.0 }, { "disease_id": "DOID:0112253", "name": "combined cellular and humoral immune defects with granulomas", "description": "A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12.", "url": "https://disease-ontology.org/term/DOID:0112253", "evidence": [ { "id": "0112253", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0112253" } ], "weight": 0.0 }, { "disease_id": "DOID:627", "name": "severe combined immunodeficiency", "description": "A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems.", "url": "https://disease-ontology.org/term/DOID:627", "evidence": [ { "id": "627", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:627" } ], "weight": 0.0 } ], "biological_process": [ { "name": "T cell lineage commitment", "id": "GO:0002360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002360", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "B cell differentiation", "id": "GO:0030183", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "positive regulation of organ growth", "id": "GO:0046622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046622", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "B cell homeostatic proliferation", "id": "GO:0002358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002358", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "pre-B cell allelic exclusion", "id": "GO:0002331", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002331", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "V(D)J recombination", "id": "GO:0033151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033151", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "T cell differentiation", "id": "GO:0030217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030217", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "B cell lineage commitment", "id": "GO:0002326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002326", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "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": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "mature B cell differentiation involved in immune response", "id": "GO:0002313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002313", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" } ], "molecular_function": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4,5-trisphosphate binding", "id": "GO:0005547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005547", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4-bisphosphate binding", "id": "GO:0043325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043325", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,5-bisphosphate binding", "id": "GO:0080025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0080025", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "sequence-specific DNA binding", "id": "GO:0043565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043565", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "histone H3K4me3 reader activity", "id": "GO:0140002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140002", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" }, { "name": "DNA recombinase complex", "id": "GO:0097519", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097519", "evidence": [ { "database": "UniProtKB", "id": "G3V6K7", "url": "https://www.uniprot.org/uniprotkb/G3V6K7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V6K7-1" }, { "uniprot_canonical_ac": "G3V6Q8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V6Q8", "url": "https://www.uniprot.org/uniprotkb/G3V6Q8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 311, "chemical_mass": 34910.0, "gene_names": "Or8g23;Olr1278;Or8g23", "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": "G3V6Q8", "url": "https://www.uniprot.org/uniprotkb/G3V6Q8" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "G3V6Q8", "url": "https://www.uniprot.org/uniprotkb/G3V6Q8" } ], "pmid": "" }, { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "G3V6Q8", "url": "https://www.uniprot.org/uniprotkb/G3V6Q8" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "G3V6Q8", "url": "https://www.uniprot.org/uniprotkb/G3V6Q8" } ], "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": "G3V6Q8", "url": "https://www.uniprot.org/uniprotkb/G3V6Q8" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "G3V6Q8", "url": "https://www.uniprot.org/uniprotkb/G3V6Q8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V6Q8-1" }, { "uniprot_canonical_ac": "G3V6V6-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V6V6", "url": "https://www.uniprot.org/uniprotkb/G3V6V6" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 367, "chemical_mass": 40696.0, "gene_names": "Lhx8;Lhx7;Lhx8", "protein_name": "", "disease": [ { "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 } ], "biological_process": [ { "name": "forebrain neuron differentiation", "id": "GO:0021879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021879", "evidence": [ { "database": "UniProtKB", "id": "G3V6V6", "url": "https://www.uniprot.org/uniprotkb/G3V6V6" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "G3V6V6", "url": "https://www.uniprot.org/uniprotkb/G3V6V6" } ], "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": "G3V6V6", "url": "https://www.uniprot.org/uniprotkb/G3V6V6" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "G3V6V6", "url": "https://www.uniprot.org/uniprotkb/G3V6V6" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "G3V6V6", "url": "https://www.uniprot.org/uniprotkb/G3V6V6" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "G3V6V6", "url": "https://www.uniprot.org/uniprotkb/G3V6V6" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "G3V6V6", "url": "https://www.uniprot.org/uniprotkb/G3V6V6" } ], "pmid": "" }, { "name": "female gonad development", "id": "GO:0008585", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008585", "evidence": [ { "database": "UniProtKB", "id": "G3V6V6", "url": "https://www.uniprot.org/uniprotkb/G3V6V6" } ], "pmid": "" }, { "name": "forebrain neuron development", "id": "GO:0021884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021884", "evidence": [ { "database": "UniProtKB", "id": "G3V6V6", "url": "https://www.uniprot.org/uniprotkb/G3V6V6" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "G3V6V6", "url": "https://www.uniprot.org/uniprotkb/G3V6V6" } ], "pmid": "" }, { "name": "female germ cell nucleus", "id": "GO:0001674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001674", "evidence": [ { "database": "UniProtKB", "id": "G3V6V6", "url": "https://www.uniprot.org/uniprotkb/G3V6V6" } ], "pmid": "" } ], "molecular_function": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "G3V6V6", "url": "https://www.uniprot.org/uniprotkb/G3V6V6" } ], "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": "G3V6V6", "url": "https://www.uniprot.org/uniprotkb/G3V6V6" } ], "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": "G3V6V6", "url": "https://www.uniprot.org/uniprotkb/G3V6V6" } ], "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": "G3V6V6", "url": "https://www.uniprot.org/uniprotkb/G3V6V6" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V6V6-1" }, { "uniprot_canonical_ac": "G3V6V8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V6V8", "url": "https://www.uniprot.org/uniprotkb/G3V6V8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 481, "chemical_mass": 54311.0, "gene_names": "Hyal4;Hyal4", "protein_name": "Hyaluronidase", "disease": [], "cellular_component": [ { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "G3V6V8", "url": "https://www.uniprot.org/uniprotkb/G3V6V8" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "G3V6V8", "url": "https://www.uniprot.org/uniprotkb/G3V6V8" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "G3V6V8", "url": "https://www.uniprot.org/uniprotkb/G3V6V8" } ], "pmid": "" } ], "biological_process": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "G3V6V8", "url": "https://www.uniprot.org/uniprotkb/G3V6V8" } ], "pmid": "" }, { "name": "glycosaminoglycan catabolic process", "id": "GO:0006027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006027", "evidence": [ { "database": "UniProtKB", "id": "G3V6V8", "url": "https://www.uniprot.org/uniprotkb/G3V6V8" } ], "pmid": "" }, { "name": "chondroitin sulfate proteoglycan catabolic process", "id": "GO:0030207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030207", "evidence": [ { "database": "UniProtKB", "id": "G3V6V8", "url": "https://www.uniprot.org/uniprotkb/G3V6V8" } ], "pmid": "" }, { "name": "hyaluronan catabolic process", "id": "GO:0030214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030214", "evidence": [ { "database": "UniProtKB", "id": "G3V6V8", "url": "https://www.uniprot.org/uniprotkb/G3V6V8" } ], "pmid": "" } ], "molecular_function": [ { "name": "hyalurononglucosaminidase activity", "id": "GO:0004415", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004415", "evidence": [ { "database": "UniProtKB", "id": "G3V6V8", "url": "https://www.uniprot.org/uniprotkb/G3V6V8" } ], "pmid": "" }, { "name": "chondroitin hydrolase activity", "id": "GO:0052757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0052757", "evidence": [ { "database": "UniProtKB", "id": "G3V6V8", "url": "https://www.uniprot.org/uniprotkb/G3V6V8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V6V8-1" }, { "uniprot_canonical_ac": "G3V6W8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 430, "chemical_mass": 49199.0, "gene_names": "Bmp7;BMP-7;Bmp7", "protein_name": "Bone morphogenetic protein 7", "disease": [ { "disease_id": "DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.", "url": "https://disease-ontology.org/term/DOID:0050848", "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ], "weight": 0.0 }, { "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:11400", "name": "pyelonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:11400", "evidence": [ { "id": "11400", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11400" } ], "weight": 0.0 }, { "disease_id": "DOID:12556", "name": "acute kidney tubular necrosis", "description": "An acute kidney failure that is characterized by necrosis of epithelial tubule cells.", "url": "https://disease-ontology.org/term/DOID:12556", "evidence": [ { "id": "12556", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12556" } ], "weight": 0.0 }, { "disease_id": "DOID:14323", "name": "Marfan syndrome", "description": "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.", "url": "https://disease-ontology.org/term/DOID:14323", "evidence": [ { "id": "14323", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14323" } ], "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": 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"extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" } ], "biological_process": [ { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "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": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "epithelial cell differentiation", "id": "GO:0030855", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030855", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "negative regulation of neuron differentiation", "id": "GO:0045665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045665", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "positive regulation of neuron differentiation", "id": "GO:0045666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045666", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "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": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "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": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "positive regulation of cell differentiation", "id": "GO:0045597", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045597", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "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": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "BMP signaling pathway", "id": "GO:0030509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030509", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "hindbrain development", "id": "GO:0030902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030902", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "response to estradiol", "id": "GO:0032355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032355", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "cardiac muscle tissue development", "id": "GO:0048738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048738", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "positive regulation of bone mineralization", "id": "GO:0030501", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030501", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "cellular response to BMP stimulus", "id": "GO:0071773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071773", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "odontogenesis of dentin-containing tooth", "id": "GO:0042475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042475", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "mesoderm formation", "id": "GO:0001707", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001707", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "positive regulation of osteoblast differentiation", "id": "GO:0045669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045669", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "pharyngeal system development", "id": "GO:0060037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060037", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "positive regulation of epithelial to mesenchymal transition", "id": "GO:0010718", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010718", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "response to peptide hormone", "id": "GO:0043434", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043434", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "negative regulation of mitotic nuclear division", "id": "GO:0045839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045839", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "metanephros development", "id": "GO:0001656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001656", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "pattern specification process", "id": "GO:0007389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007389", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "negative regulation of cell cycle", "id": "GO:0045786", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045786", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "camera-type eye morphogenesis", "id": "GO:0048593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048593", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "response to vitamin D", "id": "GO:0033280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033280", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "cartilage development", "id": "GO:0051216", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051216", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "ureteric bud development", "id": "GO:0001657", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001657", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "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": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "cell development", "id": "GO:0048468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048468", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "positive regulation of brown fat cell differentiation", "id": "GO:0090336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090336", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "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": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "salivary gland morphogenesis", "id": "GO:0007435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007435", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "regulation of phosphorylation", "id": "GO:0042325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042325", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "mesonephros development", "id": "GO:0001823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001823", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "endocardial cushion formation", "id": "GO:0003272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003272", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "pericardium morphogenesis", "id": "GO:0003344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003344", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "embryonic pattern specification", "id": "GO:0009880", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009880", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "neural fold elevation formation", "id": "GO:0021502", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021502", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "positive regulation of heterotypic cell-cell adhesion", "id": "GO:0034116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034116", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "embryonic camera-type eye morphogenesis", "id": "GO:0048596", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048596", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "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": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "mesenchymal cell differentiation", "id": "GO:0048762", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048762", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "embryonic skeletal joint morphogenesis", "id": "GO:0060272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060272", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "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": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "cardiac 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"regulation of branching involved in prostate gland morphogenesis", "id": "GO:0060687", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060687", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "chorio-allantoic fusion", "id": "GO:0060710", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060710", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "heart trabecula morphogenesis", "id": "GO:0061384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061384", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "monocyte aggregation", "id": "GO:0070487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070487", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis", "id": "GO:0072040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072040", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "negative regulation of glomerular mesangial cell proliferation", "id": "GO:0072125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072125", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "metanephric mesenchyme morphogenesis", "id": "GO:0072133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072133", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "nephrogenic mesenchyme morphogenesis", "id": "GO:0072134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072134", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "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": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "positive regulation of dendrite development", "id": "GO:1900006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900006", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "positive regulation of hyaluranon cable assembly", "id": "GO:1900106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900106", "evidence": [ { "database": "UniProtKB", "id": "G3V6W8", "url": "https://www.uniprot.org/uniprotkb/G3V6W8" } ], "pmid": "" }, { "name": "allantois development", "id": "GO:1905069", "url": 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"uniprot_canonical_ac": "Q5PQK2-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q5PQK2", "url": "https://www.uniprot.org/uniprotkb/Q5PQK2" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 515, "chemical_mass": 52371.0, "gene_names": "Fus", "protein_name": "RNA-binding protein FUS", "disease": [ { "disease_id": "DOID:0060198", "name": "amyotrophic lateral sclerosis type 6", "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16.", "url": "https://disease-ontology.org/term/DOID:0060198", "evidence": [ { "id": "0060198", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060198" } ], "weight": 0.0 }, { "disease_id": "DOID:0111431", "name": "essential tremor 4", "description": "An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2.", 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"database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "response to silicon dioxide", "id": "GO:0034021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034021", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "liver development", "id": "GO:0001889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001889", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "forebrain development", "id": "GO:0030900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030900", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "lung development", "id": "GO:0030324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030324", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "anterior/posterior pattern specification", "id": "GO:0009952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009952", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "pancreas development", "id": "GO:0031016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031016", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "regulation of feeding behavior", "id": "GO:0060259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060259", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "limb development", "id": "GO:0060173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060173", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "cardiac muscle cell differentiation", "id": "GO:0055007", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055007", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "positive regulation of insulin-like growth factor receptor signaling pathway", "id": "GO:0043568", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043568", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042733", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "response to fluid shear stress", "id": "GO:0034405", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034405", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "smoothened signaling pathway", "id": "GO:0007224", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "non-motile cilium assembly", "id": "GO:1905515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905515", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "endothelial cell morphogenesis", "id": "GO:0001886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001886", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "regulation of cilium assembly", "id": "GO:1902017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902017", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "cilium movement", "id": "GO:0003341", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003341", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "epidermal stem cell homeostasis", "id": "GO:0036334", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036334", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "neural precursor cell proliferation", "id": "GO:0061351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061351", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "lung vasculature development", "id": "GO:0060426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060426", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "forebrain morphogenesis", "id": "GO:0048853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048853", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "regulation of autophagosome assembly", "id": "GO:2000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000785", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "regulation of fat cell differentiation", "id": "GO:0045598", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045598", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "sperm axoneme assembly", "id": "GO:0007288", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007288", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "cardiac septum morphogenesis", "id": "GO:0060411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060411", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "telencephalon development", "id": "GO:0021537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021537", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "regulation of odontogenesis of dentin-containing tooth", "id": "GO:0042487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042487", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "heart formation", "id": "GO:0060914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060914", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "positive regulation of cilium assembly", "id": "GO:0045724", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045724", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "cytoplasmic microtubule organization", "id": "GO:0031122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031122", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "inner ear receptor cell stereocilium organization", "id": "GO:0060122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060122", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "cochlea development", "id": "GO:0090102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090102", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "regulation of protein processing", "id": "GO:0070613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070613", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "spermatid nucleus elongation", "id": "GO:0007290", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007290", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "primary palate development", "id": "GO:1903929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903929", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "cell projection organization", "id": "GO:0030030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030030", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "acrosomal membrane", "id": "GO:0002080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002080", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "manchette", "id": "GO:0002177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002177", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "non-motile cilium", "id": "GO:0097730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097730", "evidence": [ { "database": "UniProtKB", "id": "A0A096MK92", "url": "https://www.uniprot.org/uniprotkb/A0A096MK92" } ], "pmid": "" }, { "name": "ciliary basal body", "id": 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"name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "tyrosine phosphorylation of STAT protein", "id": "GO:0007260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007260", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "cellular response to interleukin-7", "id": "GO:0098761", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098761", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "interleukin-11-mediated signaling pathway", "id": "GO:0038154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038154", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "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": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "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": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "interleukin-6-mediated signaling pathway", "id": "GO:0070102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070102", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "interleukin-15-mediated signaling pathway", "id": "GO:0035723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035723", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "cellular response to interleukin-3", "id": "GO:0036016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036016", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "interleukin-9-mediated signaling pathway", "id": "GO:0038113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038113", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via STAT", "id": "GO:1904894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904894", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "interleukin-10-mediated signaling pathway", "id": "GO:0140105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140105", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein tyrosine kinase activity", "id": "GO:0004713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004713", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "non-membrane spanning protein tyrosine kinase activity", "id": "GO:0004715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004715", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "ubiquitin protein ligase binding", "id": "GO:0031625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031625", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "protein phosphatase binding", "id": "GO:0019903", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019903", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "CCR5 chemokine receptor binding", "id": "GO:0031730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031730", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "growth hormone receptor binding", "id": "GO:0005131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005131", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "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": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "G3V9W2", "url": "https://www.uniprot.org/uniprotkb/G3V9W2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "G3V9W2-1", "start_pos": "1094", "end_pos": "1094", "site_lbl": "Thr1094", "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": 1094, "start_aa": "Thr", "end_pos": 1094, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1094", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] }, { "uniprot_canonical_ac": "G3V9W2-1", "start_pos": "813", "end_pos": "813", "site_lbl": "Thr813", "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": 813, "start_aa": "Thr", "end_pos": 813, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr813", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ] } ] } ], "record_id": "G3V9W2-1" }, { "uniprot_canonical_ac": "G3V9W7-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "G3V9W7", "url": "https://www.uniprot.org/uniprotkb/G3V9W7" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 102, "chemical_mass": 10812.0, "gene_names": "Hoxa11-as", "protein_name": "", "disease": [ { "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 } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "G3V9W7-1" }, { "uniprot_canonical_ac": "G3V9W8-1", "species": [ { "name": "Rattus 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The infection has_symptom anogenital warts.", "url": "https://disease-ontology.org/term/DOID:11168", "evidence": [ { "id": "11168", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11168" } ], "weight": 0.0 }, { "disease_id": "DOID:11204", "name": "allergic conjunctivitis", "description": "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant.", "url": "https://disease-ontology.org/term/DOID:11204", "evidence": [ { "id": "11204", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11204" } ], "weight": 0.0 }, { "disease_id": "DOID:12236", "name": "primary biliary cholangitis", "description": "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.", "url": "https://disease-ontology.org/term/DOID:12236", "evidence": [ { "id": "12236", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12236" } ], "weight": 0.0 }, { "disease_id": "DOID:1287", "name": "cardiovascular system disease", "description": "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.", "url": "https://disease-ontology.org/term/DOID:1287", "evidence": [ { "id": "1287", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1287" } ], "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:14018", "name": "alcoholic liver cirrhosis", "description": "", "url": "https://disease-ontology.org/term/DOID:14018", "evidence": [ { "id": "14018", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14018" } ], "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: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: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:1749", "name": "squamous cell carcinoma", "description": "A carcinoma that derives_from squamous epithelial cells.", "url": "https://disease-ontology.org/term/DOID:1749", "evidence": [ { "id": "1749", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1749" } ], "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:2043", "name": "hepatitis B", "description": "A viral hepatitis that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus (Orthohepadnavirus hominoidei), which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice.", "url": "https://disease-ontology.org/term/DOID:2043", "evidence": [ { "id": "2043", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2043" } ], "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:2957", "name": "pulmonary tuberculosis", "description": "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis.", "url": "https://disease-ontology.org/term/DOID:2957", "evidence": [ { "id": "2957", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2957" } ], "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: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:3265", "name": "chronic granulomatous disease", "description": "A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.", "url": "https://disease-ontology.org/term/DOID:3265", "evidence": [ { "id": "3265", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3265" } ], "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: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: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: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: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:8677", "name": "perinatal necrotizing enterocolitis", "description": "", "url": "https://disease-ontology.org/term/DOID:8677", "evidence": [ { "id": "8677", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8677" } ], "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:9111", "name": "cutaneous leishmaniasis", "description": "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.", "url": "https://disease-ontology.org/term/DOID:9111", "evidence": [ { "id": "9111", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9111" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of B cell differentiation", "id": "GO:0045577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045577", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "positive regulation of interferon-alpha production", "id": "GO:0032727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032727", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "positive regulation of interleukin-18 production", "id": "GO:0032741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032741", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "negative regulation of ATPase-coupled calcium transmembrane transporter activity", "id": "GO:1901895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901895", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "regulation of dendritic cell cytokine production", "id": "GO:0002730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002730", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "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": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "defense response to Gram-negative bacterium", "id": "GO:0050829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "maintenance of gastrointestinal epithelium", "id": "GO:0030277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030277", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "positive regulation of interleukin-6 production", "id": "GO:0032755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032755", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "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": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "positive regulation of canonical NF-kappaB signal transduction", "id": "GO:0043123", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043123", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "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": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "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": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "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": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "positive regulation of interleukin-8 production", "id": "GO:0032757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032757", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "regulation of protein phosphorylation", "id": "GO:0001932", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001932", "evidence": [ { "database": "UniProtKB", "id": "M0RAA8", "url": "https://www.uniprot.org/uniprotkb/M0RAA8" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { 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"https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "Q6V9Y2", "url": "https://www.uniprot.org/uniprotkb/Q6V9Y2" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q6V9Y2", "url": "https://www.uniprot.org/uniprotkb/Q6V9Y2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6V9Y2-1" }, { "uniprot_canonical_ac": "Q6V9Y3-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6V9Y3", "url": "https://www.uniprot.org/uniprotkb/Q6V9Y3" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 268, "chemical_mass": 30237.0, "gene_names": "Tssk3;Stk22c;Tssk-3;Tssk3", "protein_name": "Testis-specific serine/threonine-protein kinase 3", "disease": [], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q6V9Y3", "url": "https://www.uniprot.org/uniprotkb/Q6V9Y3" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q6V9Y3", "url": "https://www.uniprot.org/uniprotkb/Q6V9Y3" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q6V9Y3", "url": "https://www.uniprot.org/uniprotkb/Q6V9Y3" } ], "pmid": "" }, { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "Q6V9Y3", "url": "https://www.uniprot.org/uniprotkb/Q6V9Y3" } ], "pmid": "" } ], "biological_process": [ { "name": 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"https://www.uniprot.org/uniprotkb/Q6W9J5" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 344, "chemical_mass": 39293.0, "gene_names": "RT1-M2;RT1-M2", "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. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection.", "url": "https://disease-ontology.org/term/DOID:0050426", "evidence": [ { "id": "0050426", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050426" } ], "weight": 0.0 }, { "disease_id": "DOID:0060180", "name": "colitis", "description": "An inflammatory bowel disease that involves inflammation located_in colon.", "url": "https://disease-ontology.org/term/DOID:0060180", "evidence": [ { "id": "0060180", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060180" } ], "weight": 0.0 }, { "disease_id": "DOID:0080160", "name": "Cytomegalovirus retinitis", "description": "A retinitis that has_material_basis_in Cytomegalovirus.", "url": "https://disease-ontology.org/term/DOID:0080160", "evidence": [ { "id": "0080160", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080160" } ], "weight": 0.0 }, { "disease_id": "DOID:0080600", "name": "COVID-19", "description": "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a subtype of Betacoronavirus pandemicum.", "url": "https://disease-ontology.org/term/DOID:0080600", "evidence": [ { "id": "0080600", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080600" } ], "weight": 0.0 }, { "disease_id": "DOID:0080603", "name": "ankylosing spondylitis 1", "description": "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3.", "url": "https://disease-ontology.org/term/DOID:0080603", "evidence": [ { "id": "0080603", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080603" } ], "weight": 0.0 }, { "disease_id": "DOID:0080750", "name": "erythema nodosum", "description": "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter.", "url": "https://disease-ontology.org/term/DOID:0080750", "evidence": [ { "id": "0080750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080750" } ], "weight": 0.0 }, { "disease_id": "DOID:0080820", "name": "occupational asthma", "description": "An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace.", "url": "https://disease-ontology.org/term/DOID:0080820", "evidence": [ { "id": "0080820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080820" } ], "weight": 0.0 }, { "disease_id": "DOID:0111079", "name": "birdshot chorioretinopathy", "description": "A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia.", "url": "https://disease-ontology.org/term/DOID:0111079", "evidence": [ { "id": "0111079", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111079" } ], "weight": 0.0 }, { "disease_id": "DOID:0111286", "name": "psoriasis 1", "description": "A psoriasis that has_material_basis_in variation in the HLA-C gene on chromosome 6p21.33.", "url": "https://disease-ontology.org/term/DOID:0111286", "evidence": [ { "id": "0111286", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111286" } ], "weight": 0.0 }, { "disease_id": "DOID:10003", "name": "sensorineural hearing loss", "description": "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem.", "url": "https://disease-ontology.org/term/DOID:10003", "evidence": [ { "id": "10003", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10003" } ], "weight": 0.0 }, { "disease_id": "DOID:1123", "name": "spondyloarthropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:1123", "evidence": [ { "id": "1123", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1123" } ], "weight": 0.0 }, { "disease_id": "DOID:11265", "name": "trachoma", "description": "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. 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: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: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: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:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression.", "url": "https://disease-ontology.org/term/DOID:3312", "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ], "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: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: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: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 }, { "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": "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": "Q6W9J5", "url": "https://www.uniprot.org/uniprotkb/Q6W9J5" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q6W9J5", "url": "https://www.uniprot.org/uniprotkb/Q6W9J5" } ], "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": "Q6W9J5", "url": "https://www.uniprot.org/uniprotkb/Q6W9J5" } ], "pmid": "" }, { "name": "positive regulation of T cell 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[ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q6W9J5", "url": "https://www.uniprot.org/uniprotkb/Q6W9J5" } ], "pmid": "" }, { "name": "external side of plasma membrane", "id": "GO:0009897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "evidence": [ { "database": "UniProtKB", "id": "Q6W9J5", "url": "https://www.uniprot.org/uniprotkb/Q6W9J5" } ], "pmid": "" }, { "name": "phagocytic vesicle membrane", "id": "GO:0030670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030670", "evidence": [ { "database": "UniProtKB", "id": "Q6W9J5", "url": "https://www.uniprot.org/uniprotkb/Q6W9J5" } ], "pmid": "" }, { "name": "MHC class I protein complex", "id": "GO:0042612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042612", "evidence": [ { "database": "UniProtKB", "id": "Q6W9J5", "url": "https://www.uniprot.org/uniprotkb/Q6W9J5" } ], "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": "Q6W9J5", "url": "https://www.uniprot.org/uniprotkb/Q6W9J5" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6W9J5-1" }, { "uniprot_canonical_ac": "Q6WN19-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 469, "chemical_mass": 50967.0, "gene_names": "Rtn2;NSPLI;Nspl1;RTN2-B;Rtn2", "protein_name": "Reticulon-2", "disease": [ { "disease_id": "DOID:0110765", "name": "hereditary spastic paraplegia 12", "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13.", "url": "https://disease-ontology.org/term/DOID:0110765", "evidence": [ { "id": "0110765", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110765" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "intermediate filament", "id": "GO:0005882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005882", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum membrane", "id": "GO:0033017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033017", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "terminal cisterna", "id": "GO:0014802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014802", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" } ], "biological_process": [ { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "regulation of D-glucose import", "id": "GO:0046324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046324", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "negative regulation of amyloid-beta formation", "id": "GO:1902430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902430", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "intracellular protein transmembrane transport", "id": "GO:0065002", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065002", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "endoplasmic reticulum tubular network formation", "id": "GO:0071787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071787", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "endoplasmic reticulum tubular network membrane organization", "id": "GO:1990809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990809", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q6WN19-1", "start_pos": "44", "end_pos": "44", "site_lbl": "Ser44", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q6WN19", "url": "https://www.uniprot.org/uniprotkb/Q6WN19" } ] } ] } ], "record_id": "Q6WN19-1" }, { "uniprot_canonical_ac": "Q6XCE7-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q6XCE7", "url": "https://www.uniprot.org/uniprotkb/Q6XCE7" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 373, "chemical_mass": 42843.0, "gene_names": "Gpr34;Gpr34", "protein_name": "Probable G-protein coupled receptor 34", "disease": [], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q6XCE7", "url": "https://www.uniprot.org/uniprotkb/Q6XCE7" } ], "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": "Q6XCE7", "url": "https://www.uniprot.org/uniprotkb/Q6XCE7" } ], "pmid": "" } ], "molecular_function": [ { "name": "G protein-coupled purinergic nucleotide receptor activity", "id": "GO:0045028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045028", "evidence": [ { "database": "UniProtKB", "id": "Q6XCE7", "url": "https://www.uniprot.org/uniprotkb/Q6XCE7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q6XCE7-1" }, { "uniprot_canonical_ac": "Q71FD8-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q71FD8", "url": "https://www.uniprot.org/uniprotkb/Q71FD8" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 170, "chemical_mass": 18633.0, "gene_names": 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"id": "Q71FD8", "url": "https://www.uniprot.org/uniprotkb/Q71FD8" } ], "pmid": "" } ], "biological_process": [ { "name": "membrane repolarization during action potential", "id": "GO:0086011", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086011", "evidence": [ { "database": "UniProtKB", "id": "Q71FD8", "url": "https://www.uniprot.org/uniprotkb/Q71FD8" } ], "pmid": "" }, { "name": "membrane repolarization during ventricular cardiac muscle cell action potential", "id": "GO:0098915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098915", "evidence": [ { "database": "UniProtKB", "id": "Q71FD8", "url": "https://www.uniprot.org/uniprotkb/Q71FD8" } ], "pmid": "" }, { "name": "regulation of heart rate by cardiac conduction", "id": "GO:0086091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0086091", "evidence": [ { "database": "UniProtKB", "id": "Q71FD8", "url": "https://www.uniprot.org/uniprotkb/Q71FD8" } ], "pmid": "" }, { "name": "regulation of ventricular cardiac muscle cell membrane 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"" }, { "name": "voltage-gated potassium channel complex", "id": "GO:0008076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008076", "evidence": [ { "database": "UniProtKB", "id": "Q71FD8", "url": "https://www.uniprot.org/uniprotkb/Q71FD8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q71FD8-1" }, { "uniprot_canonical_ac": "Q810D7-1", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "Q810D7", "url": "https://www.uniprot.org/uniprotkb/Q810D7" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "length": 93, "chemical_mass": 10738.0, "gene_names": "Apeg3", "protein_name": "", "disease": [], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "Q810D7-1" } ]