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"batch.mouse.17" }, { "uniprot_canonical_ac": "Q8CIM7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8CIM7", "url": "https://www.uniprot.org/uniprotkb/Q8CIM7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 500, "chemical_mass": 56976.0, "gene_names": "Cyp2d26;1300006E06Rik;Cyp2d-26;Cyp2d26", "protein_name": "Cytochrome P450 2D26", "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:13839", "name": "extrapyramidal and movement disease", "description": "", "url": "https://disease-ontology.org/term/DOID:13839", "evidence": [ { "id": "13839", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13839" } ], "weight": 0.0 }, { "disease_id": "DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality.", "url": "https://disease-ontology.org/term/DOID:1470", "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2559", "name": "opiate dependence", "description": "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance.", "url": "https://disease-ontology.org/term/DOID:2559", "evidence": [ { "id": "2559", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2559" } ], "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 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"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:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "aromatase activity", "id": "GO:0070330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070330", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM7", "url": "https://www.uniprot.org/uniprotkb/Q8CIM7" } ], "pmid": "" }, { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM7", "url": "https://www.uniprot.org/uniprotkb/Q8CIM7" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM7", "url": "https://www.uniprot.org/uniprotkb/Q8CIM7" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM7", "url": "https://www.uniprot.org/uniprotkb/Q8CIM7" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen", "id": "GO:0016712", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016712", "evidence": [ { "database": "UniProtKB", "id": "Q8CIM7", "url": "https://www.uniprot.org/uniprotkb/Q8CIM7" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", 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"database": "UniProtKB", "id": "Q9WUM4", "url": "https://www.uniprot.org/uniprotkb/Q9WUM4" } ], "pmid": "" }, { "name": "membrane fission", "id": "GO:0090148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090148", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM4", "url": "https://www.uniprot.org/uniprotkb/Q9WUM4" } ], "pmid": "" }, { "name": "actin cortical patch assembly", "id": "GO:0000147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000147", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM4", "url": "https://www.uniprot.org/uniprotkb/Q9WUM4" } ], "pmid": "" }, { "name": "endosome membrane tubulation", "id": "GO:0097750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097750", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM4", "url": "https://www.uniprot.org/uniprotkb/Q9WUM4" } ], "pmid": "" }, { "name": "endosome fission", "id": "GO:0140285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140285", "evidence": [ { "database": "UniProtKB", "id": "Q9WUM4", "url": 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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:11714", "name": "gestational diabetes", "description": "A diabetes mellitus that manifests during pregnancy.", "url": "https://disease-ontology.org/term/DOID:11714", "evidence": [ { "id": "11714", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11714" } ], "weight": 0.0 }, { "disease_id": "DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause.", "url": "https://disease-ontology.org/term/DOID:11984", "evidence": [ { "id": "11984", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ], "weight": 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID:14183", "name": "alcoholic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:14183", "evidence": [ { "id": "14183", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14183" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "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: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:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID: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:2526", "name": "prostate adenocarcinoma", "description": "A prostate carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:2526", "evidence": [ { "id": "2526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2526" } ], "weight": 0.0 }, { "disease_id": "DOID:2986", "name": "IgA glomerulonephritis", "description": "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus.", "url": "https://disease-ontology.org/term/DOID:2986", "evidence": [ { "id": "2986", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2986" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:3602", "name": "toxic encephalopathy", "description": "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems.", "url": "https://disease-ontology.org/term/DOID:3602", "evidence": [ { "id": "3602", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3602" } ], "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:4248", "name": "coronary stenosis", "description": "", "url": "https://disease-ontology.org/term/DOID:4248", "evidence": [ { "id": "4248", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4248" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:535", "name": "sleep disorder", "description": "A disease of mental health that involves disruption of sleep patterns.", "url": "https://disease-ontology.org/term/DOID:535", "evidence": [ { "id": "535", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:535" } ], "weight": 0.0 }, { "disease_id": "DOID:5577", "name": "gastrinoma", "description": "A neuroendocrine tumor that results_in an overproduction of gastric acid.", "url": "https://disease-ontology.org/term/DOID:5577", "evidence": [ { "id": "5577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5577" } ], "weight": 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"url": "https://www.alliancegenome.org/disease/DOID:769" } ], "weight": 0.0 }, { "disease_id": "DOID:7998", "name": "hyperthyroidism", "description": "A thyroid gland disease that involves an over production of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:7998", "evidence": [ { "id": "7998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7998" } ], "weight": 0.0 }, { "disease_id": "DOID:8398", "name": "osteoarthritis", "description": "An arthritis that has_material_basis_in worn out cartilage located_in joint.", "url": "https://disease-ontology.org/term/DOID:8398", "evidence": [ { "id": "8398", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8398" } ], "weight": 0.0 }, { "disease_id": "DOID:8577", "name": "ulcerative colitis", "description": "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.", "url": "https://disease-ontology.org/term/DOID:8577", "evidence": [ { "id": "8577", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8577" } ], "weight": 0.0 }, { "disease_id": "DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.", "url": "https://disease-ontology.org/term/DOID:8725", "evidence": [ { "id": "8725", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9620", "name": "vesicoureteral reflux", "description": "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter.", "url": "https://disease-ontology.org/term/DOID:9620", "evidence": [ { "id": "9620", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9620" } ], "weight": 0.0 }, { "disease_id": "DOID:9743", "name": "diabetic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:9743", "evidence": [ { "id": "9743", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "negative regulation of hepatocyte apoptotic process", "id": "GO:1903944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903944", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "positive regulation of axon regeneration", "id": "GO:0048680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048680", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "positive regulation of meiotic cell cycle", "id": "GO:0051446", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051446", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "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": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "peptidyl-tyrosine autophosphorylation", "id": "GO:0038083", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038083", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "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": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "cellular response to glucose stimulus", "id": "GO:0071333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071333", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "epidermis development", "id": "GO:0008544", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008544", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "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": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell proliferation", "id": "GO:0048661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048661", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], "pmid": "" }, { "name": "positive regulation of osteoblast proliferation", "id": "GO:0033690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033690", "evidence": [ { "database": "UniProtKB", "id": "Q60751", "url": "https://www.uniprot.org/uniprotkb/Q60751" } ], 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9D4G2", "url": "https://www.uniprot.org/uniprotkb/Q9D4G2" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q9D4G2", "url": "https://www.uniprot.org/uniprotkb/Q9D4G2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9D4G2-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Ser167", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Mutant females show reduced fertility with smaller litter sizes. Produces DNA repair defects during meiotic prophase I. Reduces loading of BRME1 and HSF2BP at the recombination nodules. Males show a slight non-significant reduction in fertility. No effect on interaction with BRCA2 and BRME1. No effect on subcellular location. Reduces BRME1 expression.", "evidence": [ { "database": "UniProtKB", "id": "Q9D4G2", "url": "https://www.uniprot.org/uniprotkb/Q9D4G2" }, { "database": "PubMed", "id": "32845237", "url": "https://glygen.org/publication/PubMed/32845237" } ] } ] }, { "uniprot_canonical_ac": "Q9D4G2-1", "start_pos": "204", "end_pos": "204", "site_lbl": "Arg204", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Abolishes interaction with BRCA2 and location to double-strand breaks in chromosomes.", "evidence": [ { "database": "UniProtKB", "id": "Q9D4G2", "url": "https://www.uniprot.org/uniprotkb/Q9D4G2" }, { "database": "PubMed", "id": "32345962", "url": "https://glygen.org/publication/PubMed/32345962" } ] } ] } ], "record_id": "batch.mouse.17" }, { "uniprot_canonical_ac": "P0C673-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 428, "chemical_mass": 46067.0, "gene_names": "Igsf11;1700025L02Rik;BT-IgSF;Igsf11;Igsf13", "protein_name": "Immunoglobulin superfamily member 11", "disease": [], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "pmid": "" }, { "name": "cell-cell junction", "id": "GO:0005911", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005911", "evidence": [ { "database": "UniProtKB", "id": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "pmid": "" }, { "name": "excitatory synapse", "id": "GO:0060076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060076", "evidence": [ { "database": "UniProtKB", "id": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "pmid": "" } ], "biological_process": [ { "name": "positive regulation of long-term synaptic potentiation", "id": "GO:1900273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900273", "evidence": [ { "database": "UniProtKB", "id": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "pmid": "" }, { "name": "regulation of synaptic plasticity", "id": "GO:0048167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048167", "evidence": [ { "database": "UniProtKB", "id": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "pmid": "" }, { "name": "positive regulation of mini excitatory postsynaptic potential", "id": "GO:0061885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061885", "evidence": [ { "database": "UniProtKB", "id": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "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": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "pmid": "" }, { "name": "maintenance of protein location", "id": "GO:0045185", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045185", "evidence": [ { "database": "UniProtKB", "id": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "pmid": "" }, { "name": "regulation of presynapse assembly", "id": "GO:1905606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905606", "evidence": [ { "database": "UniProtKB", "id": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "pmid": "" }, { "name": "regulation of postsynaptic membrane neurotransmitter receptor levels", "id": "GO:0099072", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099072", "evidence": [ { "database": "UniProtKB", "id": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "pmid": "" }, { "name": "trans-synaptic signaling", "id": "GO:0099537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099537", "evidence": [ { "database": "UniProtKB", "id": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "pmid": "" } ], "molecular_function": [ { "name": "ionotropic glutamate receptor binding", "id": "GO:0035255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035255", "evidence": [ { "database": "UniProtKB", "id": "P0C673", "url": "https://www.uniprot.org/uniprotkb/P0C673" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P0C673-1", "start_pos": "102", "end_pos": "102", "site_lbl": "Asn102", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 102, "start_aa": "Asn", "end_pos": 102, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn102", "evidence": [ { "id": "P0C673", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P0C673#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P0C673-1", "start_pos": "386", "end_pos": "386", "site_lbl": "Asn386", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G92275SC", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "NNGSVSRK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 386, "start_aa": "Asn", "end_pos": 386, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn386", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "P0C673-1", "start_pos": "422", "end_pos": "422", "site_lbl": "Ser422", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "start_pos": 422, "start_aa": "Ser", "end_pos": 422, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser422", "evidence": [ { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" }, { "id": "P0C673", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P0C673" } ] } ] }, { "uniprot_canonical_ac": "P0C673-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Ile221", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (IGT->NGT).", "chr_id": "16", "chr_pos": "38843727", "evidence": [ { "id": "rs3389420232", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389420232" } ] } ] } ], "record_id": "batch.mouse.17" }, { "uniprot_canonical_ac": "Q62559-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 426, "chemical_mass": 48248.0, "gene_names": "Ift52;Ift52;NGD5;Ngd5", "protein_name": "Intraflagellar transport protein 52 homolog", "disease": [ { "disease_id": "DOID:0050592", "name": "asphyxiating thoracic dystrophy", "description": "A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.", "url": "https://disease-ontology.org/term/DOID:0050592", "evidence": [ { "id": "0050592", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050592" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "photoreceptor cell cilium", "id": "GO:0097733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097733", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "photoreceptor connecting cilium", "id": "GO:0032391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032391", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "ciliary base", "id": "GO:0097546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "dendrite terminus", "id": "GO:0044292", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044292", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "intraciliary transport particle A", "id": "GO:0030991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030991", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "intraciliary transport particle B", "id": "GO:0030992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030992", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "ciliary tip", "id": "GO:0097542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097542", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of epithelial cell proliferation", "id": "GO:0050680", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050680", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "dorsal/ventral pattern formation", "id": "GO:0009953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009953", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "embryonic digit morphogenesis", "id": "GO:0042733", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0035720", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "regulation of protein processing", "id": "GO:0070613", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070613", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" }, { "name": "neural tube formation", "id": "GO:0001841", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001841", "evidence": [ { "database": "UniProtKB", "id": "Q62559", "url": "https://www.uniprot.org/uniprotkb/Q62559" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.17" }, { "uniprot_canonical_ac": "P63242-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P63242", "url": "https://www.uniprot.org/uniprotkb/P63242" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 154, "chemical_mass": 16832.0, "gene_names": "Eif5a;D19Wsu54e;Eif4d;Eif5a1;Eif5a;eIF-4D;eIF-5A-1;eIF-5A1;eIF-5A", "protein_name": "Eukaryotic translation initiation factor 5A-1", "disease": [ { "disease_id": "DOID:3498", "name": "pancreatic ductal adenocarcinoma", "description": "A pancreatic adenocarcinoma that derives_from pancreatic duct cells.", "url": "https://disease-ontology.org/term/DOID:3498", "evidence": [ { "id": "3498", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3498" } ], "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 }, { 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"1295", "site_lbl": "Ile1295", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55313251", "evidence": [ { "id": "rs3389357691", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389357691" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1310", "end_pos": "1310", "site_lbl": "Leu1310", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55313297", "evidence": [ { "id": "rs3389341874", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389341874" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1321", "end_pos": "1321", "site_lbl": "Ile1321", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55313329", "evidence": [ { "id": "rs3389361033", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389361033" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1345", "end_pos": "1345", "site_lbl": "Phe1345", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55315730", "evidence": [ { "id": "rs3389322346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389322346" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "137", "end_pos": "137", "site_lbl": "Gly137", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55208325", "evidence": [ { "id": "rs3389354415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354415" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1424", "end_pos": "1424", "site_lbl": "Ser1424", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55327113", "evidence": [ { "id": "rs3389341914", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389341914" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1426", "end_pos": "1426", "site_lbl": "Ser1426", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55327118", "evidence": [ { "id": "rs256355702", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs256355702" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1435", "end_pos": "1435", "site_lbl": "Glu1435", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55327145", "evidence": [ { "id": "rs3389281711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389281711" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1477", "end_pos": "1477", "site_lbl": "Lys1477", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55331380", "evidence": [ { "id": "rs3389322352", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389322352" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1489", "end_pos": "1489", "site_lbl": "Glu1489", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55335025", "evidence": [ { "id": "rs3389361660", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389361660" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1492", "end_pos": "1492", "site_lbl": "Arg1492", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55335033", "evidence": [ { "id": "rs3389357700", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389357700" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1507", "end_pos": "1507", "site_lbl": "Gln1507", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55335077", "evidence": [ { "id": "rs3389281738", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389281738" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1518", "end_pos": "1518", "site_lbl": "Pro1518", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55335111", "evidence": [ { "id": "rs3389363047", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389363047" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1538", "end_pos": "1538", "site_lbl": "Val1538", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55336679", "evidence": [ { "id": "rs3389281664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389281664" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1556", "end_pos": "1556", "site_lbl": "Phe1556", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55351331", "evidence": [ { "id": "rs3389361717", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389361717" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1557", "end_pos": "1557", "site_lbl": "Pro1557", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55351335", "evidence": [ { "id": "rs3389357758", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389357758" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1559", "end_pos": "1559", "site_lbl": "Lys1559", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55351342", "evidence": [ { "id": "rs3389367148", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389367148" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1568", "end_pos": "1568", "site_lbl": "Pro1568", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55351367", "evidence": [ { "id": "rs3389312526", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389312526" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1645", "end_pos": "1645", "site_lbl": "Ser1645", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55364816", "evidence": [ { "id": "rs3389312555", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389312555" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1699", "end_pos": "1699", "site_lbl": "Lys1699", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55379575", "evidence": [ { "id": "rs3389371495", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389371495" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "16", "end_pos": "16", "site_lbl": "Phe16", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55192634", "evidence": [ { "id": "rs249018768", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs249018768" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1707", "end_pos": "1707", "site_lbl": "Ile1707", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55379599", "evidence": [ { "id": "rs3389357086", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389357086" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1714", "end_pos": "1714", "site_lbl": "Gly1714", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55379619", "evidence": [ { "id": "rs3389322400", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389322400" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1773", "end_pos": "1773", "site_lbl": "Ser1773", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55383332", "evidence": [ { "id": "rs255277544", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs255277544" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "1793", "end_pos": "1793", "site_lbl": "Trp1793", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55383391", "evidence": [ { "id": "rs3389354424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354424" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "17", "end_pos": "17", "site_lbl": "Leu17", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55192638", "evidence": [ { "id": "rs3389354447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354447" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "18", "end_pos": "18", "site_lbl": "Ala18", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55192641", "evidence": [ { "id": "rs1134765368", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134765368" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Lys251", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55229480", "evidence": [ { "id": "rs3389375022", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389375022" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "279", "end_pos": "279", "site_lbl": "Pro279", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55229564", "evidence": [ { "id": "rs3389357707", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389357707" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "314", "end_pos": "314", "site_lbl": "His314", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55236027", "evidence": [ { "id": "rs3389350270", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350270" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "326", "end_pos": "326", "site_lbl": "Thr326", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55236064", "evidence": [ { "id": "rs3389281677", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389281677" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "348", "end_pos": "348", "site_lbl": "Ala348", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55236129", "evidence": [ { "id": "rs3389281723", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389281723" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "377", "end_pos": "377", "site_lbl": "Ser377", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55242983", "evidence": [ { "id": "rs3389363042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389363042" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "404", "end_pos": "404", "site_lbl": "Ser404", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55244138", "evidence": [ { "id": "rs3406153595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406153595" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "408", "end_pos": "408", "site_lbl": "Thr408", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55244151", "evidence": [ { "id": "rs51583746", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs51583746" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "430", "end_pos": "430", "site_lbl": "Thr430", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55244217", "evidence": [ { "id": "rs3389350339", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389350339" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "437", "end_pos": "437", "site_lbl": "Gly437", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55244238", "evidence": [ { "id": "rs3389281694", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389281694" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "438", "end_pos": "438", "site_lbl": "Ala438", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55244240", "evidence": [ { "id": "rs259970783", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs259970783" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "460", "end_pos": "460", "site_lbl": "Met460", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55245876", "evidence": [ { "id": "rs3389361645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389361645" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "473", "end_pos": "473", "site_lbl": "Tyr473", "weight": 0.0, "snv": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55245915", "evidence": [ { "id": "rs3389281674", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389281674" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "540", "end_pos": "540", "site_lbl": "Arg540", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55251963", "evidence": [ { "id": "rs3389375007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389375007" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "550", "end_pos": "550", "site_lbl": "Asn550", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55251994", "evidence": [ { "id": "rs3389357712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389357712" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "553", "end_pos": "553", "site_lbl": "Arg553", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55252002", "evidence": [ { "id": "rs3389281727", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389281727" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "559", "end_pos": "559", "site_lbl": "Ala559", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55252020", "evidence": [ { "id": "rs50697105", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs50697105" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "564", "end_pos": "564", "site_lbl": "Ser564", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55252036", "evidence": [ { "id": "rs265408561", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265408561" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "576", "end_pos": "576", "site_lbl": "Thr576", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55252072", "evidence": [ { "id": "rs3406314643", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406314643" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "610", "end_pos": "610", "site_lbl": "Glu610", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55270119", "evidence": [ { "id": "rs227742839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs227742839" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "667", "end_pos": "667", "site_lbl": "Thr667", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55271248", "evidence": [ { "id": "rs3389362980", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389362980" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "703", "end_pos": "703", "site_lbl": "Glu703", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55272312", "evidence": [ { "id": "rs3389340321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389340321" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "709", "end_pos": "709", "site_lbl": "Ala709", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55272329", "evidence": [ { "id": "rs248768074", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs248768074" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "717", "end_pos": "717", "site_lbl": "Phe717", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55273581", "evidence": [ { "id": "rs246381178", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs246381178" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "731", "end_pos": "731", "site_lbl": "Val731", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55273624", "evidence": [ { "id": "rs3389354475", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354475" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "733", "end_pos": "733", "site_lbl": "Ser733", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55273629", "evidence": [ { "id": "rs49340982", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49340982" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "760", "end_pos": "760", "site_lbl": "Asp760", "weight": 0.0, "snv": [ { "sequence_org": "D", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55275044", "evidence": [ { "id": "rs3406214711", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406214711" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "761", "end_pos": "761", "site_lbl": "Ser761", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55275048", "evidence": [ { "id": "rs3406010649", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3406010649" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "772", "end_pos": "772", "site_lbl": "Lys772", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55275080", "evidence": [ { "id": "rs48650824", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48650824" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "77", "end_pos": "77", "site_lbl": "Leu77", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55205100", "evidence": [ { "id": "rs1131851224", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131851224" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Gln78", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55205105", "evidence": [ { "id": "rs1135279046", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135279046" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "790", "end_pos": "790", "site_lbl": "Val790", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55282100", "evidence": [ { "id": "rs224585890", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs224585890" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "808", "end_pos": "808", "site_lbl": "Thr808", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55282154", "evidence": [ { "id": "rs3389375025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389375025" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "845", "end_pos": "845", "site_lbl": "Arg845", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55284264", "evidence": [ { "id": "rs3389363008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389363008" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "846", "end_pos": "846", "site_lbl": "Val846", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55284268", "evidence": [ { "id": "rs3389371409", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389371409" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "854", "end_pos": "854", "site_lbl": "Ser854", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55284292", "evidence": [ { "id": "rs3389367085", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389367085" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "942", "end_pos": "942", "site_lbl": "Ile942", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55291349", "evidence": [ { "id": "rs3389354462", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389354462" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "964", "end_pos": "964", "site_lbl": "Ser964", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55300355", "evidence": [ { "id": "rs265416765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs265416765" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "979", "end_pos": "979", "site_lbl": "Gln979", "weight": 0.0, "snv": [ { "sequence_org": "Q", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55300399", "evidence": [ { "id": "rs3389361671", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389361671" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "988", "end_pos": "988", "site_lbl": "Val988", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55300427", "evidence": [ { "id": "rs3389361713", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389361713" } ] } ] }, { "uniprot_canonical_ac": "Q80X19-1", "start_pos": "996", "end_pos": "996", "site_lbl": "Glu996", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosaminoglycan related.", "chr_id": "15", "chr_pos": "55300452", "evidence": [ { "id": "rs3389361720", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389361720" } ] } ] } ], "record_id": "batch.mouse.17" }, { "uniprot_canonical_ac": "Q7TN75-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TN75", "url": "https://www.uniprot.org/uniprotkb/Q7TN75" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 958, "chemical_mass": 109849.0, "gene_names": "Peg10;Edr;HB-1;MEF3L;Mar2;Mart2;Mef3l1;MmPEG10;MyEF-3;Peg10;Rgag3;Rtl2", "protein_name": "Retrotransposon-derived protein PEG10", "disease": [ { "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 } ], "biological_process": [ { "name": "vesicle-mediated intercellular transport", "id": "GO:0110077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0110077", "evidence": [ { "database": "UniProtKB", "id": "Q7TN75", "url": "https://www.uniprot.org/uniprotkb/Q7TN75" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q7TN75", "url": "https://www.uniprot.org/uniprotkb/Q7TN75" } ], "pmid": "" }, { "name": "protein homooligomerization", "id": "GO:0051260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051260", "evidence": [ { "database": "UniProtKB", "id": "Q7TN75", "url": "https://www.uniprot.org/uniprotkb/Q7TN75" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q7TN75", "url": "https://www.uniprot.org/uniprotkb/Q7TN75" } ], "pmid": "" }, { "name": "placenta development", "id": "GO:0001890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001890", "evidence": [ { "database": "UniProtKB", "id": "Q7TN75", "url": "https://www.uniprot.org/uniprotkb/Q7TN75" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "Q7TN75", "url": "https://www.uniprot.org/uniprotkb/Q7TN75" } ], "pmid": "" }, { "name": "mRNA transport", "id": "GO:0051028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051028", "evidence": [ { 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"url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ], "weight": 0.0 }, { "disease_id": "DOID:13378", "name": "Kawasaki disease", "description": "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities.", "url": "https://disease-ontology.org/term/DOID:13378", "evidence": [ { "id": "13378", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13378" } ], "weight": 0.0 }, { "disease_id": "DOID:13603", "name": "obstructive jaundice", "description": "A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction.", "url": 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"" }, { "name": "endothelial cell chemotaxis", "id": "GO:0035767", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035767", "evidence": [ { "database": "UniProtKB", "id": "P63158", "url": "https://www.uniprot.org/uniprotkb/P63158" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor 4 signaling pathway", "id": "GO:0034145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034145", "evidence": [ { "database": "UniProtKB", "id": "P63158", "url": "https://www.uniprot.org/uniprotkb/P63158" } ], "pmid": "" }, { "name": "positive regulation of toll-like receptor 9 signaling pathway", "id": "GO:0034165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034165", "evidence": [ { "database": "UniProtKB", "id": "P63158", "url": "https://www.uniprot.org/uniprotkb/P63158" } ], "pmid": "" }, { "name": "negative regulation of apoptotic cell clearance", "id": "GO:2000426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000426", "evidence": [ { "database": "UniProtKB", "id": "P63158", 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"name": "negative regulation of long-term synaptic potentiation", "id": "GO:1900272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900272", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { "name": "neuron projection maintenance", "id": "GO:1990535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990535", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { "name": "negative regulation of type II interferon production", "id": "GO:0032689", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032689", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": 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"url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { "name": "response to cadmium ion", "id": "GO:0046686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046686", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { "name": "positive regulation of calcium-mediated signaling", "id": "GO:0050850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050850", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { "name": "positive regulation of protein localization to plasma membrane", "id": "GO:1903078", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903078", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { "name": "negative regulation of calcineurin-NFAT signaling cascade", "id": "GO:0070885", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070885", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "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": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { "name": "response to copper ion", "id": "GO:0046688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046688", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { "name": "positive regulation of protein targeting to membrane", "id": "GO:0090314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090314", "evidence": [ { "database": "UniProtKB", "id": "P04925", "url": "https://www.uniprot.org/uniprotkb/P04925" } ], "pmid": "" }, { "name": "nucleobase-containing compound metabolic process", "id": "GO:0006139", "url": 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"P35293", "url": "https://www.uniprot.org/uniprotkb/P35293" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "P35293", "url": "https://www.uniprot.org/uniprotkb/P35293" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P35293", "url": "https://www.uniprot.org/uniprotkb/P35293" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P35293", "url": "https://www.uniprot.org/uniprotkb/P35293" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "P35293", "url": "https://www.uniprot.org/uniprotkb/P35293" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P35293", "url": "https://www.uniprot.org/uniprotkb/P35293" } ], "pmid": "" }, { "name": "endoplasmic reticulum tubular network", "id": "GO:0071782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071782", "evidence": [ { "database": "UniProtKB", "id": "P35293", "url": "https://www.uniprot.org/uniprotkb/P35293" } ], "pmid": "" }, { "name": "cis-Golgi network membrane", "id": "GO:0033106", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033106", "evidence": [ { "database": "UniProtKB", "id": "P35293", "url": "https://www.uniprot.org/uniprotkb/P35293" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P35293-1", "start_pos": "144", "end_pos": "144", "site_lbl": "Ser144", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P35293", "url": "https://www.uniprot.org/uniprotkb/P35293" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "P35293", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P35293" } ] } ] } ], "record_id": "batch.mouse.17" }, { "uniprot_canonical_ac": "P62827-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 216, "chemical_mass": 24423.0, "gene_names": "Ran;Ran;Rasl2-8", "protein_name": "GTP-binding nuclear protein Ran", "disease": [ { "disease_id": "DOID:11446", "name": "sciatic neuropathy", "description": "", "url": "https://disease-ontology.org/term/DOID:11446", "evidence": [ { "id": "11446", "database": "AGR", "url": 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"https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "protein localization to nucleolus", "id": "GO:1902570", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902570", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "snRNA import into nucleus", "id": "GO:0061015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061015", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "cell division", "id": "GO:0051301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051301", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "hippocampus development", "id": "GO:0021766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021766", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "spermatid development", "id": "GO:0007286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007286", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "ribosomal subunit export from nucleus", "id": "GO:0000054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000054", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "glycolytic process", "id": "GO:0006096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006096", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "GTP metabolic process", "id": "GO:0046039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046039", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "protein export from nucleus", "id": "GO:0006611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006611", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "protein-containing complex localization", "id": "GO:0031503", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031503", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "mitotic sister chromatid segregation", "id": "GO:0000070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000070", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "cellular response to mineralocorticoid stimulus", "id": "GO:0071389", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071389", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "protein import into nucleus", "id": "GO:0006606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006606", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "ribosomal small subunit export from nucleus", "id": "GO:0000056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000056", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" } ], "molecular_function": [ { "name": "importin-alpha family protein binding", "id": "GO:0061676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061676", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "protein domain 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070883", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "dynein intermediate chain binding", "id": "GO:0045505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045505", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "G protein activity", "id": "GO:0003925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003925", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "nuclear envelope", "id": "GO:0005635", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005635", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "nuclear pore", "id": "GO:0005643", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005643", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "male germ cell nucleus", "id": "GO:0001673", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001673", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "manchette", "id": "GO:0002177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002177", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "centriole", "id": "GO:0005814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005814", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "midbody", "id": "GO:0030496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030496", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" }, { "name": "RNA nuclear export complex", "id": "GO:0042565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042565", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P62827-1", "start_pos": "24", "end_pos": "24", "site_lbl": "Thr24", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": 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Loss of interaction with NEMP1.", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" }, { "database": "PubMed", "id": "25946333", "url": "https://glygen.org/publication/PubMed/25946333" }, { "database": "PubMed", "id": "18347012", "url": "https://glygen.org/publication/PubMed/18347012" } ] } ] }, { "uniprot_canonical_ac": "P62827-1", "start_pos": "42", "end_pos": "42", "site_lbl": "Thr42", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Loss of interaction with NEMP1.", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" }, { "database": "PubMed", "id": "25946333", "url": "https://glygen.org/publication/PubMed/25946333" } ] } ] }, { "uniprot_canonical_ac": "P62827-1", "start_pos": "69", "end_pos": "69", "site_lbl": "Gln69", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "L", "comment": "Strongly decreases interaction with RANGRF. Partial decrease in RANBP10-binding. No effect on interaction with NEMP1 and KPNB1.", "evidence": [ { "database": "UniProtKB", "id": "P62827", "url": "https://www.uniprot.org/uniprotkb/P62827" }, { "database": "PubMed", "id": "18347012", "url": "https://glygen.org/publication/PubMed/18347012" }, { "database": "PubMed", "id": "10811801", "url": "https://glygen.org/publication/PubMed/10811801" }, { "database": "PubMed", "id": "25946333", "url": "https://glygen.org/publication/PubMed/25946333" } ] } ] } ], "record_id": "batch.mouse.17" }, { "uniprot_canonical_ac": "Q5RI75-3", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q5RI75", "url": "https://www.uniprot.org/uniprotkb/Q5RI75" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 708, "chemical_mass": 79548.0, "gene_names": "Rasef;RAB45;Rasef", "protein_name": "Ras and EF-hand domain-containing protein", "disease": [], "molecular_function": [ { "name": "GTPase 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"https://disease-ontology.org/term/DOID:10155", "evidence": [ { "id": "10155", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10155" } ], "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:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.", "url": "https://disease-ontology.org/term/DOID:10652", "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ], "weight": 0.0 }, { "disease_id": "DOID:10933", "name": "obsessive-compulsive disorder", "description": "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).", "url": "https://disease-ontology.org/term/DOID:10933", "evidence": [ { "id": "10933", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10933" } ], "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", 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"url": "https://www.alliancegenome.org/disease/DOID:162" } ], "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: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:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:263", "evidence": [ { "id": "263", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:263" } ], "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:2871", "name": "endometrial carcinoma", "description": "A endometrial cancer that is located_in the tissue lining the uterus.", "url": "https://disease-ontology.org/term/DOID:2871", "evidence": [ { "id": "2871", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2871" } ], "weight": 0.0 }, { "disease_id": "DOID:305", "name": "carcinoma", "description": "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:305", "evidence": [ { "id": "305", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:305" } ], "weight": 0.0 }, { "disease_id": "DOID:3068", "name": "glioblastoma", "description": "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes.", "url": "https://disease-ontology.org/term/DOID:3068", "evidence": [ { "id": "3068", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3068" } ], "weight": 0.0 }, { "disease_id": "DOID:3069", "name": "malignant astrocytoma", "description": "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord.", "url": 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stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland.", "url": "https://disease-ontology.org/term/DOID:3969", "evidence": [ { "id": "3969", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3969" } ], "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:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "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:591", "name": "phobic disorder", "description": "An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation.", "url": "https://disease-ontology.org/term/DOID:591", "evidence": [ { "id": "591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:591" } ], "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:686", "name": "liver carcinoma", "description": "A liver cancer that has_material_basis_in epithelial cells.", "url": "https://disease-ontology.org/term/DOID:686", "evidence": [ { "id": "686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:686" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of Ras protein signal transduction", "id": "GO:0046579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046579", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "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": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "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": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": 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"GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "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": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "regulation of long-term neuronal synaptic plasticity", "id": "GO:0048169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048169", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "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": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "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": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "myelination", "id": "GO:0042552", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "T cell receptor signaling pathway", "id": "GO:0050852", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050852", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q61411", "url": "https://www.uniprot.org/uniprotkb/Q61411" } ], "pmid": "" }, { "name": "Ras 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], "pmid": "" }, { "name": "negative regulation of necroptotic process", "id": "GO:0060546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060546", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "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": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway in absence of ligand", "id": "GO:2001240", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001240", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "positive regulation of execution phase of apoptosis", "id": "GO:1900119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900119", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "programmed necrotic cell death", "id": "GO:0097300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097300", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "positive regulation of tumor necrosis factor-mediated signaling pathway", "id": "GO:1903265", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903265", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "positive regulation of macrophage differentiation", "id": "GO:0045651", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0070266", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "ripoptosome assembly involved in necroptotic process", "id": "GO:1901026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901026", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "positive regulation of programmed necrotic cell death", "id": "GO:0062100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062100", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" } ], "molecular_function": [ { "name": "death domain binding", "id": "GO:0070513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070513", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": 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Protects cells from TNF-induced cell death.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "30988283", "url": "https://glygen.org/publication/PubMed/30988283" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "304", "end_pos": "304", "site_lbl": "Ser304", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "313", "end_pos": "313", "site_lbl": "Ser313", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "iPTMnet", "id": "Q60855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60855" }, { "database": "PubMed", "id": "32269263", "url": "https://glygen.org/publication/PubMed/32269263" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "321", "end_pos": "321", "site_lbl": "Ser321", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "iPTMnet", "id": "Q60855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60855" }, { "database": "PubMed", "id": "33397971", "url": "https://glygen.org/publication/PubMed/33397971" }, { "database": "PubMed", "id": "34990405", "url": "https://glygen.org/publication/PubMed/34990405" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation. 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Promotes its interaction with RIPK3 to mediate necroptosis; when associated with E-332; E-334 and E-336.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "332", "end_pos": "332", "site_lbl": "Ser332", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "iPTMnet", "id": "Q60855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation at Ser-332 and Ser-334; when associated with A-321; A-334 and A-336.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Promotes its interaction with RIPK3 to mediate necroptosis; when associated with E-321; E-334 and E-336.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Ser334", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "iPTMnet", "id": "Q60855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation at Ser-332 and Ser-334; when associated with A-321; A-332 and A-336.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Promotes its interaction with RIPK3 to mediate necroptosis; when associated with E-321; E-332 and E-336.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "383", "end_pos": "383", "site_lbl": "Tyr383", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "415", "end_pos": "415", "site_lbl": "Ser415", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q60855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60855" }, { "database": "PubMed", "id": "35156314", "url": "https://glygen.org/publication/PubMed/35156314" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "6", "end_pos": "6", "site_lbl": "Ser6", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "iPTMnet", "id": "Q60855", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q60855" }, { "database": "PubMed", "id": "30988283", "url": "https://glygen.org/publication/PubMed/30988283" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation. Does not protect cells from TNF-induced cell death.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "30988283", "url": "https://glygen.org/publication/PubMed/30988283" } ] }, { "sequence_org": "S", "sequence_mut": "D", "comment": "Phophomimetic mutant. Does not protect cells from TNF-induced cell death.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "30988283", "url": "https://glygen.org/publication/PubMed/30988283" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "138", "end_pos": "138", "site_lbl": "Asp138", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "N", "comment": "Abolished protein kinase activity and ability to regulate apoptosis and necroptosis. Knockin mice are viable.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "24557836", "url": "https://glygen.org/publication/PubMed/24557836" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "Loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "31827280", "url": "https://glygen.org/publication/PubMed/31827280" }, { "database": "PubMed", "id": "29440439", "url": "https://glygen.org/publication/PubMed/29440439" }, { "database": "PubMed", "id": "31827281", "url": "https://glygen.org/publication/PubMed/31827281" }, { "database": "PubMed", "id": "31511692", "url": "https://glygen.org/publication/PubMed/31511692" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Asp325", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of CASP8-mediated cleavage. Promotes both FADD-dependent apoptosis and RIPK3-dependent necroptosis, thus leading to embryonic lethality at midgestation stages in knockin mice. Heterozygous knockin mice are viable and grossly normal, but are hyperresponsive to inflammatory stimuli.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "31827281", "url": "https://glygen.org/publication/PubMed/31827281" }, { "database": "PubMed", "id": "30867408", "url": "https://glygen.org/publication/PubMed/30867408" }, { "database": "PubMed", "id": "31511692", "url": "https://glygen.org/publication/PubMed/31511692" } ] }, { "sequence_org": "D", "sequence_mut": "H", "comment": "Loss of CASP8-mediated cleavage. Embryonic lethality in knockin mice. Promotes activation of the protein kinase activity, leading to increased cell death.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "31827280", "url": "https://glygen.org/publication/PubMed/31827280" } ] }, { "sequence_org": "D", "sequence_mut": "V", "comment": "Loss of CASP8-mediated cleavage. Embryonic lethality in knockin mice. Promotes activation of the protein kinase activity, leading to increased cell death.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "31827280", "url": "https://glygen.org/publication/PubMed/31827280" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Ser336", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Loss of phosphorylation at Ser-332 and Ser-334; when associated with A-321; A-332 and A-334.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Promotes its interaction with RIPK3 to mediate necroptosis; when associated with E-321; E-332 and E-334.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "28842570", "url": "https://glygen.org/publication/PubMed/28842570" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "376", "end_pos": "376", "site_lbl": "Lys376", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "R", "comment": "Loss of ubiquitination. Decreases TNF-mediated NF-kappaB activation. Increases interaction with CFLAR, CASP8, FADD and RIPK3. Decreases interaction with MAP3K7. Enhances kinase activity and promotes apoptosis and necroptosis. Knockin mice display early embryonic lethality resulting from excessive cell death and severe inflammation.", "evidence": [ { "database": "UniProtKB", "id": "Q60855", "url": "https://www.uniprot.org/uniprotkb/Q60855" }, { "database": "PubMed", "id": "31519887", "url": "https://glygen.org/publication/PubMed/31519887" }, { "database": "PubMed", "id": "31519886", "url": "https://glygen.org/publication/PubMed/31519886" } ] } ] }, { "uniprot_canonical_ac": "Q60855-1", "start_pos": "45", "end_pos": "45", "site_lbl": "Lys45", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of kinase activity. 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"https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q8R395", "url": "https://www.uniprot.org/uniprotkb/Q8R395" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q8R395", "url": "https://www.uniprot.org/uniprotkb/Q8R395" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.17" }, { "uniprot_canonical_ac": "Q8BUG2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BUG2", "url": "https://www.uniprot.org/uniprotkb/Q8BUG2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 492, "chemical_mass": 55090.0, "gene_names": "Cndp1;Cn1;Cndp1", "protein_name": "Beta-Ala-His dipeptidase", "disease": [ { "disease_id": "DOID:2921", "name": "glomerulonephritis", 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"reference_species": "Mus musculus [10090]" } ], "length": 206, "chemical_mass": 23954.0, "gene_names": "Tektip1;2210409H10Rik;4930404N11Rik;5730551K18Rik;Tektip1", "protein_name": "Tektin bundle-interacting protein 1", "disease": [], "biological_process": [ { "name": "flagellated sperm motility", "id": "GO:0030317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030317", "evidence": [ { "database": "UniProtKB", "id": "A6H6Q4", "url": "https://www.uniprot.org/uniprotkb/A6H6Q4" } ], "pmid": "" } ], "cellular_component": [ { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "A6H6Q4", "url": "https://www.uniprot.org/uniprotkb/A6H6Q4" } ], "pmid": "" }, { "name": "axonemal microtubule", "id": "GO:0005879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005879", "evidence": [ { "database": "UniProtKB", "id": "A6H6Q4", "url": "https://www.uniprot.org/uniprotkb/A6H6Q4" } ], "pmid": "" }, { "name": "axonemal A tubule inner sheath", "id": "GO:0160111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0160111", "evidence": [ { "database": "UniProtKB", "id": "A6H6Q4", "url": "https://www.uniprot.org/uniprotkb/A6H6Q4" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.17" }, { "uniprot_canonical_ac": "Q6VVW9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 501, "chemical_mass": 57313.0, "gene_names": "Cyp2r1;Cyp2r1", "protein_name": "Vitamin D 25-hydroxylase", "disease": [ { "disease_id": "DOID:0080887", "name": "vitamin D-dependent rickets type 1B", "description": "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15.", "url": "https://disease-ontology.org/term/DOID:0080887", "evidence": [ { "id": "0080887", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080887" } ], "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:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": 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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: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: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:3454", "name": "brain infarction", "description": "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain.", "url": 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extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "vitamin D metabolic process", "id": "GO:0042359", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042359", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "xenobiotic metabolic process", "id": "GO:0006805", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006805", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "organic acid metabolic process", "id": "GO:0006082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006082", "evidence": [ { "database": "UniProtKB", "id": "Q6VVW9", "url": "https://www.uniprot.org/uniprotkb/Q6VVW9" } ], "pmid": "" }, { "name": "response to cesium ion", "id": "GO:0010164", "url": 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Mice homozygous for that mutation do not display any developmental abnormality.", "evidence": [ { "database": "UniProtKB", "id": "O55029", "url": "https://www.uniprot.org/uniprotkb/O55029" }, { "database": "PubMed", "id": "29036432", "url": "https://glygen.org/publication/PubMed/29036432" } ] } ] } ], "record_id": "batch.mouse.17" }, { "uniprot_canonical_ac": "P00186-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P00186", "url": "https://www.uniprot.org/uniprotkb/P00186" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 513, "chemical_mass": 58184.0, "gene_names": "Cyp1a2;CP12;CYPIA2;Cyp1a-2;Cyp1a2;P450-3", "protein_name": "Cytochrome P450 1A2", "disease": [ { "disease_id": "DOID:1380", "name": "endometrial cancer", "description": "A uterine cancer that is located_in tissues lining the uterus.", "url": "https://disease-ontology.org/term/DOID:1380", "evidence": [ { "id": "1380", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1380" } ], "weight": 0.0 }, { "disease_id": "DOID:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1612", "name": "breast cancer", "description": "An organ system cancer that originates in the mammary gland.", "url": "https://disease-ontology.org/term/DOID:1612", "evidence": [ { "id": "1612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ], "weight": 0.0 }, { "disease_id": "DOID: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. 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"url": "https://www.uniprot.org/uniprotkb/P00186" } ], "pmid": "" }, { "name": "toxin metabolic process", "id": "GO:0009404", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009404", "evidence": [ { "database": "UniProtKB", "id": "P00186", "url": "https://www.uniprot.org/uniprotkb/P00186" } ], "pmid": "" }, { "name": "hydrogen peroxide biosynthetic process", "id": "GO:0050665", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050665", "evidence": [ { "database": "UniProtKB", "id": "P00186", "url": "https://www.uniprot.org/uniprotkb/P00186" } ], "pmid": "" }, { "name": "oxidative demethylation", "id": "GO:0070989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070989", "evidence": [ { "database": "UniProtKB", "id": "P00186", "url": "https://www.uniprot.org/uniprotkb/P00186" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "P00186", "url": "https://www.uniprot.org/uniprotkb/P00186" } ], "pmid": "" }, { "name": "cellular response to cadmium ion", "id": "GO:0071276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071276", "evidence": [ { "database": "UniProtKB", "id": "P00186", "url": "https://www.uniprot.org/uniprotkb/P00186" } ], "pmid": "" }, { "name": "arachidonate metabolic process", "id": "GO:0019369", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019369", "evidence": [ { "database": "UniProtKB", "id": "P00186", "url": "https://www.uniprot.org/uniprotkb/P00186" } ], "pmid": "" }, { "name": "cellular respiration", "id": "GO:0045333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045333", "evidence": [ { "database": "UniProtKB", "id": "P00186", "url": "https://www.uniprot.org/uniprotkb/P00186" } ], "pmid": "" }, { "name": "steroid catabolic process", "id": "GO:0006706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006706", "evidence": [ { "database": "UniProtKB", "id": "P00186", "url": "https://www.uniprot.org/uniprotkb/P00186" } ], "pmid": "" }, { "name": "porphyrin-containing compound metabolic process", "id": "GO:0006778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006778", "evidence": [ { "database": "UniProtKB", "id": "P00186", "url": "https://www.uniprot.org/uniprotkb/P00186" } ], "pmid": "" }, { "name": "toxin biosynthetic process", "id": "GO:0009403", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009403", "evidence": [ { "database": "UniProtKB", "id": "P00186", "url": "https://www.uniprot.org/uniprotkb/P00186" } ], "pmid": "" }, { "name": "alkaloid metabolic process", "id": "GO:0009820", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009820", "evidence": [ { "database": "UniProtKB", "id": "P00186", "url": "https://www.uniprot.org/uniprotkb/P00186" } ], "pmid": "" }, { "name": "dibenzo-p-dioxin metabolic process", "id": "GO:0018894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018894", "evidence": [ { "database": "UniProtKB", "id": "P00186", "url": 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"GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P00186", "url": "https://www.uniprot.org/uniprotkb/P00186" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P00186-1", "start_pos": "68", "end_pos": "68", "site_lbl": "Ser68", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "S", "relation": "attached", "comment": "O-linked (GlcNAc) serine;O-GlcNAcylation", "icn3d_view": {}, "start_pos": 68, "start_aa": "Ser", "end_pos": 68, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser68", "evidence": [ { "id": "P00186", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/P00186#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "P00186-1", "start_pos": "387", "end_pos": "387", "site_lbl": 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"cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3UW12", "url": "https://www.uniprot.org/uniprotkb/Q3UW12" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q3UW12", "url": "https://www.uniprot.org/uniprotkb/Q3UW12" } ], "pmid": "" }, { "name": "intracellular cyclic nucleotide activated cation channel complex", "id": "GO:0017071", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017071", "evidence": [ { "database": "UniProtKB", "id": "Q3UW12", "url": "https://www.uniprot.org/uniprotkb/Q3UW12" } ], "pmid": "" }, { "name": "non-motile cilium membrane", "id": "GO:0098804", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098804", "evidence": [ { "database": "UniProtKB", "id": "Q3UW12", "url": "https://www.uniprot.org/uniprotkb/Q3UW12" } ], "pmid": "" } ], "biological_process": [ { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q3UW12", "url": "https://www.uniprot.org/uniprotkb/Q3UW12" } ], "pmid": "" }, { "name": "monoatomic cation transmembrane transport", "id": "GO:0098655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098655", "evidence": [ { "database": "UniProtKB", "id": "Q3UW12", "url": "https://www.uniprot.org/uniprotkb/Q3UW12" } ], "pmid": "" }, { "name": "potassium ion transport", "id": "GO:0006813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006813", "evidence": [ { "database": "UniProtKB", "id": "Q3UW12", "url": "https://www.uniprot.org/uniprotkb/Q3UW12" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q3UW12", "url": "https://www.uniprot.org/uniprotkb/Q3UW12" } ], "pmid": "" }, { "name": "sodium ion transport", "id": "GO:0006814", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006814", "evidence": [ { "database": "UniProtKB", "id": "Q3UW12", "url": "https://www.uniprot.org/uniprotkb/Q3UW12" } ], "pmid": "" }, { "name": "sensory perception of chemical stimulus", "id": "GO:0007606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007606", "evidence": [ { "database": "UniProtKB", "id": "Q3UW12", "url": "https://www.uniprot.org/uniprotkb/Q3UW12" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.17" }, { "uniprot_canonical_ac": "Q3V4B5-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3V4B5", "url": "https://www.uniprot.org/uniprotkb/Q3V4B5" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 87, "chemical_mass": 9795.0, "gene_names": "Commd6;1110059J08Rik;1700063H17Rik;Commd6", "protein_name": "COMM domain-containing protein 6", "disease": [], "biological_process": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "Q3V4B5", "url": "https://www.uniprot.org/uniprotkb/Q3V4B5" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q3V4B5", "url": "https://www.uniprot.org/uniprotkb/Q3V4B5" } ], "pmid": "" }, { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q3V4B5", "url": "https://www.uniprot.org/uniprotkb/Q3V4B5" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": 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10090, "evidence": [ { "database": "UniProtKB", "id": "Q64441", "url": "https://www.uniprot.org/uniprotkb/Q64441" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 514, "chemical_mass": 59453.0, "gene_names": "Cyp24a1;24-OHase;CP24;Cyp-24;Cyp24a1;Cyp24", "protein_name": "1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial", "disease": [ { "disease_id": "DOID:0050860", "name": "colorectal adenoma", "description": "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum.", "url": "https://disease-ontology.org/term/DOID:0050860", "evidence": [ { "id": "0050860", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050860" } ], "weight": 0.0 }, { "disease_id": "DOID:0050861", "name": "colorectal adenocarcinoma", "description": "A colorectal carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:0050861", "evidence": [ { "id": "0050861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050861" } ], "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:0061136", "name": "infantile hypercalcemia 1", "description": "A hypercalcemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYP24A1 gene on chromosome 20q13.", "url": "https://disease-ontology.org/term/DOID:0061136", "evidence": [ { "id": "0061136", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0061136" } ], "weight": 0.0 }, { "disease_id": "DOID:10591", "name": "pre-eclampsia", 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bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. 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"database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3713" } ], "weight": 0.0 }, { "disease_id": "DOID:3748", "name": "esophagus squamous cell carcinoma", "description": "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:3748", "evidence": [ { "id": "3748", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3748" } ], "weight": 0.0 }, { "disease_id": "DOID:3905", "name": "lung carcinoma", "description": "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.", "url": "https://disease-ontology.org/term/DOID:3905", "evidence": [ { "id": "3905", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3905" } ], "weight": 0.0 }, { "disease_id": 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"database": "UniProtKB", "id": "Q64441", "url": "https://www.uniprot.org/uniprotkb/Q64441" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "Q64441", "url": "https://www.uniprot.org/uniprotkb/Q64441" } ], "pmid": "" }, { "name": "response to vitamin D", "id": "GO:0033280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033280", "evidence": [ { "database": "UniProtKB", "id": "Q64441", "url": "https://www.uniprot.org/uniprotkb/Q64441" } ], "pmid": "" }, { "name": "cellular response to vitamin D", "id": "GO:0071305", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071305", "evidence": [ { "database": "UniProtKB", "id": "Q64441", "url": "https://www.uniprot.org/uniprotkb/Q64441" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": 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"name": "anxiety disorder", "description": "A cognitive disorder that involves an excessive, irrational dread of everyday situations.", "url": "https://disease-ontology.org/term/DOID:2030", "evidence": [ { "id": "2030", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2030" } ], "weight": 0.0 }, { "disease_id": "DOID:5773", "name": "oral submucous fibrosis", "description": "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues.", "url": "https://disease-ontology.org/term/DOID:5773", "evidence": [ { "id": "5773", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5773" } ], "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", 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"" }, { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q8K4M5", "url": "https://www.uniprot.org/uniprotkb/Q8K4M5" } ], "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": "Q8K4M5", "url": "https://www.uniprot.org/uniprotkb/Q8K4M5" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q8K4M5", "url": "https://www.uniprot.org/uniprotkb/Q8K4M5" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q8K4M5", "url": 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"species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P21844", "url": "https://www.uniprot.org/uniprotkb/P21844" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 247, "chemical_mass": 27586.0, "gene_names": "Cma1;Cma1;MMCP-5;Mcp-5;Mcp5;Mcpt5", "protein_name": "Chymase", "disease": [ { "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:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious 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dehydrogenase activity", "id": "GO:0003954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003954", "evidence": [ { "database": "UniProtKB", "id": "Q3TMV7", "url": "https://www.uniprot.org/uniprotkb/Q3TMV7" } ], "pmid": "" }, { "name": "NAD(P)H oxidase H2O2-forming activity", "id": "GO:0016174", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016174", "evidence": [ { "database": "UniProtKB", "id": "Q3TMV7", "url": "https://www.uniprot.org/uniprotkb/Q3TMV7" } ], "pmid": "" }, { "name": "molecular sensor activity", "id": "GO:0140299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140299", "evidence": [ { "database": "UniProtKB", "id": "Q3TMV7", "url": "https://www.uniprot.org/uniprotkb/Q3TMV7" } ], "pmid": "" }, { "name": "NADPH dehydrogenase activity", "id": "GO:0003959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003959", "evidence": [ { "database": "UniProtKB", "id": "Q3TMV7", "url": "https://www.uniprot.org/uniprotkb/Q3TMV7" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3TMV7", "url": "https://www.uniprot.org/uniprotkb/Q3TMV7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3TMV7", "url": "https://www.uniprot.org/uniprotkb/Q3TMV7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3TMV7", "url": "https://www.uniprot.org/uniprotkb/Q3TMV7" } ], "pmid": "" }, { "name": "sarcomere", "id": "GO:0030017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "evidence": [ { "database": "UniProtKB", "id": "Q3TMV7", "url": "https://www.uniprot.org/uniprotkb/Q3TMV7" } ], "pmid": "" } ], "biological_process": [ { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q3TMV7", "url": "https://www.uniprot.org/uniprotkb/Q3TMV7" } ], "pmid": "" }, { "name": "tRNA exon ligation", "id": "GO:0000968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000968", "evidence": [ { "database": "UniProtKB", "id": "Q3TMV7", "url": "https://www.uniprot.org/uniprotkb/Q3TMV7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.17" }, { "uniprot_canonical_ac": "Q3U4I7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U4I7", "url": "https://www.uniprot.org/uniprotkb/Q3U4I7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 581, "chemical_mass": 62940.0, "gene_names": "Pyroxd2;3830409H07Rik;4833409A17Rik;Pyroxd2", "protein_name": "Pyridine nucleotide-disulfide oxidoreductase domain-containing protein 2", "disease": [], "cellular_component": [ { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q3U4I7", "url": "https://www.uniprot.org/uniprotkb/Q3U4I7" } ], "pmid": "" } ], "molecular_function": [ { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "Q3U4I7", "url": "https://www.uniprot.org/uniprotkb/Q3U4I7" } ], "pmid": "" } ], "biological_process": [ { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q3U4I7", "url": "https://www.uniprot.org/uniprotkb/Q3U4I7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.17" }, { "uniprot_canonical_ac": "Q3U5C7-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 832, "chemical_mass": 94131.0, "gene_names": "Prickle1;1110058P22Rik;Pk1;Prickle1;Prickle;b2b019Clo;mpk1", "protein_name": "Prickle-like protein 1", "disease": [ { "disease_id": "DOID:0060041", "name": "autism spectrum disorder", "description": "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060764", "name": "autosomal recessive Robinow syndrome", "description": "A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.", "url": "https://disease-ontology.org/term/DOID:0060764", "evidence": [ { "id": "0060764", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060764" } ], "weight": 0.0 }, { "disease_id": "DOID:0111448", "name": "progressive myoclonus epilepsy 1B", "description": "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12.", "url": "https://disease-ontology.org/term/DOID:0111448", "evidence": [ { "id": "0111448", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111448" } ], "weight": 0.0 }, { "disease_id": "DOID:12583", "name": "velocardiofacial syndrome", "description": "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. 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characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes.", "url": "https://disease-ontology.org/term/DOID:3328", "evidence": [ { "id": "3328", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": 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"cell trailing edge", "id": "GO:0031254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031254", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" } ], "biological_process": [ { "name": "extracellular matrix assembly", "id": "GO:0085029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0085029", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "renal tubule development", "id": "GO:0061326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061326", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "axonogenesis", "id": "GO:0007409", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007409", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "dendrite development", "id": "GO:0016358", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016358", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "mitotic spindle assembly", "id": "GO:0090307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090307", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "tissue homeostasis", "id": "GO:0001894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001894", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "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": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "cell-cell adhesion", "id": "GO:0098609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098609", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "embryonic limb morphogenesis", "id": "GO:0030326", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030326", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "neural tube closure", "id": "GO:0001843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001843", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "epidermal growth factor receptor signaling pathway", "id": "GO:0007173", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007173", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "response to electrical stimulus", "id": "GO:0051602", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051602", "evidence": [ { "database": "UniProtKB", "id": "Q3U5C7", "url": "https://www.uniprot.org/uniprotkb/Q3U5C7" } ], "pmid": "" }, { "name": "Wnt signaling pathway, planar cell polarity pathway", "id": "GO:0060071", "url": 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"Olfactory receptor 4E2", "disease": [], "biological_process": [ { "name": "detection of chemical stimulus involved in sensory perception", "id": "GO:0050907", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050907", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" } ], "pmid": "" }, { "name": "G protein-coupled receptor signaling pathway", "id": "GO:0007186", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007186", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" } ], "pmid": "" }, { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" } ], "pmid": "" }, { "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": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" } ], "pmid": "" } ], "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": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" } ], "pmid": "" }, { "name": "copper ion binding", "id": "GO:0005507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005507", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" } ], "pmid": "" }, { "name": "odorant binding", "id": "GO:0005549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005549", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Asn5", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 5, "start_aa": "Asn", "end_pos": 5, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn5", "evidence": [ { "id": "Q7TQQ0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0#ptm_processing" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "105", "end_pos": "105", "site_lbl": "His105", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "K", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper. Complete loss of receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "L", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "R", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "109", "end_pos": "109", "site_lbl": "Cys109", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "M", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper. Shows low constitutive activity in the presence of copper. MTMT binding in the absence of copper results in an inverse agonist effect.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "25185561", "url": "https://glygen.org/publication/PubMed/25185561" } ] }, { "sequence_org": "C", "sequence_mut": "V", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper. Complete loss of receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "25185561", "url": "https://glygen.org/publication/PubMed/25185561" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "118", "end_pos": "118", "site_lbl": "Met118", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper. Complete loss of receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "127", "end_pos": "127", "site_lbl": "Cys127", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "V", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "136", "end_pos": "136", "site_lbl": "Met136", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper. Complete loss of receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "141", "end_pos": "141", "site_lbl": "Cys141", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "V", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper. Complete loss of receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "155", "end_pos": "155", "site_lbl": "His155", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "K", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "N", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "R", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper. Little to no expression detected on plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "V", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "169", "end_pos": "169", "site_lbl": "Cys169", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "F", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper. Little to no expression detected on plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "V", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Cys179", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper. Little to no expression detected on plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "V", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Cys189", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper. Complete loss of receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "V", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Cys210", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No change in receptor activity in response to MTMT binding in the presence of copper. Decreased receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "No change in receptor activity in response to MTMT binding in the presence of copper. Complete loss of receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "V", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "243", "end_pos": "243", "site_lbl": "His243", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "K", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "R", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper. Little to no expression detected on plasma membrane.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "254", "end_pos": "254", "site_lbl": "Cys254", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "S", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper. Complete loss of receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" }, { "database": "PubMed", "id": "29659735", "url": "https://glygen.org/publication/PubMed/29659735" } ] }, { "sequence_org": "C", "sequence_mut": "V", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper. Complete loss of receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" }, { "database": "PubMed", "id": "29659735", "url": "https://glygen.org/publication/PubMed/29659735" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "260", "end_pos": "260", "site_lbl": "Arg260", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "A", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "29659735", "url": "https://glygen.org/publication/PubMed/29659735" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "29659735", "url": "https://glygen.org/publication/PubMed/29659735" } ] }, { "sequence_org": "R", "sequence_mut": "W", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "29659735", "url": "https://glygen.org/publication/PubMed/29659735" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "269", "end_pos": "269", "site_lbl": "Lys269", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "29659735", "url": "https://glygen.org/publication/PubMed/29659735" } ] }, { "sequence_org": "K", "sequence_mut": "H", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "29659735", "url": "https://glygen.org/publication/PubMed/29659735" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "298", "end_pos": "298", "site_lbl": "Met298", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper. Complete loss of receptor activity in the absence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "300", "end_pos": "300", "site_lbl": "His300", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "K", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "307", "end_pos": "307", "site_lbl": "Cys307", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "V", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "56", "end_pos": "56", "site_lbl": "His56", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "K", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "59", "end_pos": "59", "site_lbl": "Met59", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "Decreased receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "73", "end_pos": "73", "site_lbl": "His73", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "H", "sequence_mut": "F", "comment": "No change in receptor activity in response to MTMT binding. 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No change in the copper-induced enhancement of receptor activity.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] } ] }, { "uniprot_canonical_ac": "Q7TQQ0-1", "start_pos": "97", "end_pos": "97", "site_lbl": "Cys97", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQQ0", "url": "https://www.uniprot.org/uniprotkb/Q7TQQ0" }, { "database": "PubMed", "id": "22328155", "url": "https://glygen.org/publication/PubMed/22328155" } ] }, { "sequence_org": "C", "sequence_mut": "S", "comment": "No receptor activity in response to MTMT binding, even in the presence of copper. 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"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": "Q3UL53", "url": "https://www.uniprot.org/uniprotkb/Q3UL53" } ], "pmid": "" }, { "name": "stem cell population maintenance", "id": "GO:0019827", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019827", "evidence": [ { "database": "UniProtKB", "id": "Q3UL53", "url": "https://www.uniprot.org/uniprotkb/Q3UL53" } ], "pmid": "" }, { "name": "embryonic placenta development", "id": "GO:0001892", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001892", "evidence": [ { "database": "UniProtKB", "id": "Q3UL53", "url": "https://www.uniprot.org/uniprotkb/Q3UL53" } ], "pmid": "" }, { "name": "blastocyst hatching", "id": "GO:0001835", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001835", "evidence": [ { "database": "UniProtKB", "id": "Q3UL53", "url": "https://www.uniprot.org/uniprotkb/Q3UL53" } ], "pmid": "" }, { "name": "positive regulation of stem cell differentiation", "id": "GO:2000738", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000738", "evidence": [ { "database": "UniProtKB", "id": "Q3UL53", "url": "https://www.uniprot.org/uniprotkb/Q3UL53" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.17" }, { "uniprot_canonical_ac": "Q920Z2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q920Z2", "url": "https://www.uniprot.org/uniprotkb/Q920Z2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 318, "chemical_mass": 35150.0, "gene_names": "Or13n4;MOR260-4;Olfr702;Or13n4", "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": "Q920Z2", "url": "https://www.uniprot.org/uniprotkb/Q920Z2" } ], "pmid": "" }, { "name": "olfactory receptor activity", "id": "GO:0004984", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004984", "evidence": [ { "database": "UniProtKB", "id": "Q920Z2", "url": "https://www.uniprot.org/uniprotkb/Q920Z2" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q920Z2", "url": "https://www.uniprot.org/uniprotkb/Q920Z2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q920Z2", "url": "https://www.uniprot.org/uniprotkb/Q920Z2" } ], "pmid": "" } ], "biological_process": [ { "name": "sensory perception of smell", "id": "GO:0007608", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007608", "evidence": [ { "database": "UniProtKB", "id": 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metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone.", "url": "https://disease-ontology.org/term/DOID:0090109", "evidence": [ { "id": "0090109", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090109" } ], "weight": 0.0 }, { "disease_id": "DOID:0111387", "name": "familial isolated hypoparathyroidism", "description": "A hypoparathyroidism characterized by by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.", "url": "https://disease-ontology.org/term/DOID:0111387", "evidence": [ { "id": "0111387", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111387" } ], "weight": 0.0 }, { "disease_id": "DOID:10754", "name": "otitis media", "description": "A otitis which involves inflammation of the middle ear.", "url": 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"name": "magnesium ion homeostasis", "id": "GO:0010960", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010960", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0L6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0L6" } ], "pmid": "" }, { "name": "phosphate ion homeostasis", "id": "GO:0055062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055062", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0L6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0L6" } ], "pmid": "" }, { "name": "calcium ion homeostasis", "id": "GO:0055074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055074", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0L6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0L6" } ], "pmid": "" }, { "name": "response to vitamin D", "id": "GO:0033280", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033280", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0L6", "url": "https://www.uniprot.org/uniprotkb/Q9Z0L6" } ], "pmid": "" }, { "name": "bone mineralization", "id": 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"Q9EPK8-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 871, "chemical_mass": 98027.0, "gene_names": "Trpv4;0610033B08Rik;OTRPC4;Trp12;Trpv4;VR-OAC;VRL-2;VROAC;Vrl2;Vroac", "protein_name": "Transient receptor potential cation channel subfamily V member 4", "disease": [ { "disease_id": "DOID:0110182", "name": "Charcot-Marie-Tooth disease axonal type 2C", "description": "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.", "url": "https://disease-ontology.org/term/DOID:0110182", "evidence": [ { "id": "0110182", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110182" } ], "weight": 0.0 }, { "disease_id": "DOID:0110555", "name": "autosomal dominant nonsyndromic 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"https://www.alliancegenome.org/disease/DOID:0111215" } ], "weight": 0.0 }, { "disease_id": "DOID:0111514", "name": "metatropic dysplasia", "description": "A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111514", "evidence": [ { "id": "0111514", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111514" } ], "weight": 0.0 }, { "disease_id": "DOID:0111539", "name": "parastremmatic dwarfism", "description": "An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111539", "evidence": [ { "id": "0111539", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111539" } ], "weight": 0.0 }, { "disease_id": "DOID:0111552", "name": "scapuloperoneal spinal muscular atrophy", "description": "A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111552", "evidence": [ { "id": "0111552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111552" } ], "weight": 0.0 }, { "disease_id": "DOID:0111553", "name": "spondyloepiphyseal dysplasia Maroteaux type", "description": "An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111553", "evidence": [ { "id": "0111553", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111553" } ], "weight": 0.0 }, { "disease_id": "DOID:0111554", "name": "spondylometaphyseal dysplasia Kozlowski type", "description": "A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.", "url": "https://disease-ontology.org/term/DOID:0111554", "evidence": [ { "id": "0111554", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111554" } ], "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: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": "cellular hypotonic response", "id": "GO:0071476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071476", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "microtubule polymerization", "id": "GO:0046785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046785", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of microtubule depolymerization", "id": "GO:0031117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031117", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "osmosensory signaling pathway", "id": "GO:0007231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007231", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "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": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "response to osmotic stress", "id": "GO:0006970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006970", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "actin filament organization", "id": "GO:0007015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "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": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "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": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "calcium ion transport", "id": "GO:0006816", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006816", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "intracellular calcium ion homeostasis", "id": "GO:0006874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006874", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "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": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "cellular response to heat", "id": "GO:0034605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034605", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "energy homeostasis", "id": "GO:0097009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097009", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "negative regulation of neuron projection development", "id": "GO:0010977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010977", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "actin cytoskeleton organization", "id": "GO:0030036", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "response to insulin", "id": "GO:0032868", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032868", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "diet induced thermogenesis", "id": "GO:0002024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002024", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "regulation of aerobic respiration", "id": "GO:1903715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903715", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "cell-cell junction assembly", "id": "GO:0007043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007043", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "calcium ion transmembrane transport", "id": "GO:0070588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070588", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of monocyte chemotactic protein-1 production", "id": "GO:0071639", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071639", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "hyperosmotic salinity response", "id": "GO:0042538", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042538", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "multicellular organismal-level water homeostasis", "id": "GO:0050891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050891", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "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": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-C motif) ligand 5 production", "id": "GO:0071651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071651", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of vascular permeability", "id": "GO:0043117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043117", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of striated muscle contraction", "id": "GO:0045989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045989", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "calcium ion import", "id": "GO:0070509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070509", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "calcium ion import across plasma membrane", "id": "GO:0098703", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098703", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "vasopressin secretion", "id": "GO:0030103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030103", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "cellular response to osmotic stress", "id": "GO:0071470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071470", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of macrophage chemotaxis", "id": "GO:0010759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010759", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "cellular hypotonic salinity response", "id": "GO:0071477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071477", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "cortical microtubule organization", "id": "GO:0043622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043622", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of macrophage inflammatory protein 1 alpha production", "id": "GO:0071642", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071642", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "regulation of response to osmotic stress", "id": "GO:0047484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047484", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "hypotonic response", "id": "GO:0006971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006971", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "positive regulation of chemokine (C-X-C motif) ligand 1 production", "id": "GO:2000340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000340", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "blood vessel endothelial cell delamination", "id": "GO:0097497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097497", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "negative regulation of brown fat cell differentiation", "id": "GO:1903444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903444", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "calcium ion import into cytosol", "id": "GO:1902656", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902656", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" } ], "molecular_function": [ { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "calcium channel activity", "id": "GO:0005262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005262", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "protein kinase binding", "id": "GO:0019901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019901", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "actin filament binding", "id": "GO:0051015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "protein kinase C binding", "id": "GO:0005080", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005080", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "SH2 domain binding", "id": "GO:0042169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042169", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "beta-tubulin binding", "id": "GO:0048487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048487", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" }, { "name": "monoatomic cation channel activity", "id": "GO:0005261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005261", "evidence": [ { "database": "UniProtKB", "id": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9EPK8-1", "start_pos": "651", "end_pos": "651", "site_lbl": "Asn651", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported", "site_category_dict": { "reported": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 651, "start_aa": "Asn", "end_pos": 651, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn651", "evidence": [ { "id": "Q9EPK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8#ptm_processing" }, { "id": "16368742", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/16368742" } ] } ], "mutagenesis": [ { "sequence_org": 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"sequence_mut": "F", "comment": "No changes in channel activation by 4-alpha-PDD or heat.", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" }, { "database": "PubMed", "id": "14691263", "url": "https://glygen.org/publication/PubMed/14691263" } ] } ] }, { "uniprot_canonical_ac": "Q9EPK8-1", "start_pos": "557", "end_pos": "557", "site_lbl": "Ser557", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No changes in channel activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9EPK8", "url": "https://www.uniprot.org/uniprotkb/Q9EPK8" }, { "database": "PubMed", "id": "14691263", "url": "https://glygen.org/publication/PubMed/14691263" } ] } ] }, { "uniprot_canonical_ac": "Q9EPK8-1", "start_pos": "672", "end_pos": "672", "site_lbl": "Asp672", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Greatly reduces Ca(2+) permeation and channel rectification; 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249, "chemical_mass": 26713.0, "gene_names": "Tpi1;TIM;Tpi-1;Tpi1;Tpi", "protein_name": "Triosephosphate isomerase", "disease": [ { "disease_id": "DOID:0050884", "name": "triosephosphate isomerase deficiency", "description": "A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait.", "url": "https://disease-ontology.org/term/DOID:0050884", "evidence": [ { "id": "0050884", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050884" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": 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The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies.", "url": "https://disease-ontology.org/term/DOID:12217", "evidence": [ { "id": "12217", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12217" } ], "weight": 0.0 }, { "disease_id": "DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons.", "url": "https://disease-ontology.org/term/DOID:1289", "evidence": [ { "id": "1289", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "weight": 0.0 }, { "disease_id": "DOID:231", "name": "motor neuron disease", "description": "A neurodegenerative disease that is located_in the motor neurons.", "url": "https://disease-ontology.org/term/DOID:231", "evidence": [ { "id": "231", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:231" } ], "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:678", "name": "progressive supranuclear palsy", "description": "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.", "url": "https://disease-ontology.org/term/DOID:678", "evidence": [ { "id": "678", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:678" } ], "weight": 0.0 }, { "disease_id": "DOID:9255", "name": "frontotemporal dementia", "description": "A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.", "url": "https://disease-ontology.org/term/DOID:9255", "evidence": [ { "id": "9255", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9255" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "mRNA processing", "id": "GO:0006397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006397", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "positive regulation of insulin secretion", "id": "GO:0032024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032024", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "amyloid fibril formation", "id": "GO:1990000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990000", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "negative regulation of protein phosphorylation", "id": "GO:0001933", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001933", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "RNA splicing", "id": "GO:0008380", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008380", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA stabilization", "id": "GO:0070935", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070935", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "host-mediated suppression of viral transcription", "id": "GO:0043922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043922", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "gene expression", "id": "GO:0010467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010467", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "3'-UTR-mediated mRNA destabilization", "id": "GO:0061158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061158", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "nuclear inner membrane organization", "id": "GO:0071765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071765", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" } ], "cellular_component": [ { "name": "perichromatin fibrils", "id": "GO:0005726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005726", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "nucleus", "id": 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"database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "cytoplasmic stress granule", "id": "GO:0010494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010494", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "interchromatin granule", "id": "GO:0035061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035061", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" } ], "molecular_function": [ { "name": "pre-mRNA intronic binding", "id": "GO:0097157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097157", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": "https://www.uniprot.org/uniprotkb/Q921F2" } ], "pmid": "" }, { "name": "double-stranded DNA binding", "id": "GO:0003690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003690", "evidence": [ { "database": "UniProtKB", "id": "Q921F2", "url": 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"name": "vasculature development", "id": "GO:0001944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001944", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "anoikis", "id": "GO:0043276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043276", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "establishment of cell polarity", "id": "GO:0030010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030010", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "dendrite extension", "id": "GO:0097484", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097484", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "positive regulation of gluconeogenesis", "id": "GO:0045722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045722", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "negative regulation of TORC1 signaling", "id": "GO:1904262", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904262", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "positive thymic T cell selection", "id": "GO:0045059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045059", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "G1 to G0 transition", "id": "GO:0070314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070314", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "Golgi localization", "id": "GO:0051645", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051645", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "negative regulation of cold-induced thermogenesis", "id": "GO:0120163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120163", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "positive regulation of vesicle transport along microtubule", "id": "GO:1901610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901610", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" } ], "cellular_component": [ { "name": "serine/threonine protein kinase complex", "id": "GO:1902554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902554", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "intracellular protein-containing complex", "id": "GO:0140535", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140535", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "protein kinase activator activity", "id": "GO:0030295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030295", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "p53 binding", "id": "GO:0002039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002039", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "LRR domain binding", "id": "GO:0030275", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030275", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "189", "end_pos": "189", "site_lbl": "Thr189", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "261", "end_pos": "261", "site_lbl": "Tyr261", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q9WTK7", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9WTK7" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "21487392", "url": "https://glygen.org/publication/PubMed/21487392" }, { "database": "PubMed", "id": "18854309", "url": "https://glygen.org/publication/PubMed/18854309" }, { "database": "PubMed", "id": "20142099", "url": "https://glygen.org/publication/PubMed/20142099" }, { "database": "PubMed", "id": "24586906", "url": "https://glygen.org/publication/PubMed/24586906" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "31", "end_pos": "31", "site_lbl": "Ser31", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "21183079", "url": "https://glygen.org/publication/PubMed/21183079" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "32841502", "url": "https://glygen.org/publication/PubMed/32841502" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No change in kinase activity; when associated with A-325; A-336 and A-366.", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "325", "end_pos": "325", "site_lbl": "Ser325", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "No change in kinase activity; when associated with A-31; A-336 and A-366.", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "334", "end_pos": "334", "site_lbl": "Ser334", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "22611470", "url": "https://glygen.org/publication/PubMed/22611470" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "336", "end_pos": "336", "site_lbl": "Thr336", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9WTK7-1", "kinase_gene_name": "Stk11", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": 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Decreased phosphorylation; when associated with A-366. No change in kinase activity; when associated with A-31; A-325 and A-366.", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "365", "end_pos": "365", "site_lbl": "Tyr365", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q9WTK7", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9WTK7" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "21487392", "url": "https://glygen.org/publication/PubMed/21487392" }, { "database": "PubMed", "id": "18854309", "url": "https://glygen.org/publication/PubMed/18854309" }, { "database": "PubMed", "id": "20142099", "url": "https://glygen.org/publication/PubMed/20142099" }, { "database": "PubMed", "id": "24586906", "url": "https://glygen.org/publication/PubMed/24586906" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Thr366", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9WTK7-1", "kinase_gene_name": "Stk11", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "12234250", "url": "https://glygen.org/publication/PubMed/12234250" }, { "database": "PubMed", "id": "20864035", "url": "https://glygen.org/publication/PubMed/20864035" }, { "database": "PubMed", "id": "25329316", "url": "https://glygen.org/publication/PubMed/25329316" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" } ] } ], "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "Diminished interaction with CDKN1A and impaired ability to repair UV-induced DNA damage by affecting CDKN1AUV-induced degradation. Decreased phosphorylation; when associated with A-336. No change in kinase activity; when associated with A-31; A-325 and A-336.", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" }, { "database": "PubMed", "id": "25329316", "url": "https://glygen.org/publication/PubMed/25329316" }, { "database": "PubMed", "id": "20864035", "url": "https://glygen.org/publication/PubMed/20864035" }, { "database": "PubMed", "id": "12234250", "url": "https://glygen.org/publication/PubMed/12234250" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Tyr36", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "PRO", "id": "Q9WTK7", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9WTK7" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "21487392", "url": "https://glygen.org/publication/PubMed/21487392" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Ser403", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "431", "end_pos": "431", "site_lbl": "Ser431", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "Q9WTK7-1", "kinase_gene_name": "Stk11", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "10642527", "url": "https://glygen.org/publication/PubMed/10642527" } ] }, { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PRO", "id": "Q9WTK7", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=Q9WTK7" }, { "database": "iPTMnet", "id": "Q9WTK7", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9WTK7" }, { "database": "PubMed", "id": "24295069", "url": "https://glygen.org/publication/PubMed/24295069" }, { "database": "PubMed", "id": "27849007", "url": "https://glygen.org/publication/PubMed/27849007" }, { "database": "PubMed", "id": "11297520", "url": "https://glygen.org/publication/PubMed/11297520" }, { "database": "PubMed", "id": "17482548", "url": "https://glygen.org/publication/PubMed/17482548" }, { "database": "PubMed", "id": "17482549", "url": "https://glygen.org/publication/PubMed/17482549" }, { "database": "PubMed", "id": "10642527", "url": "https://glygen.org/publication/PubMed/10642527" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Does not prevent S-farnesylation. Defects in neuron polarization.", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "17482548", "url": "https://glygen.org/publication/PubMed/17482548" }, { "database": "PubMed", "id": "17482549", "url": "https://glygen.org/publication/PubMed/17482549" }, { "database": "PubMed", "id": "10642527", "url": "https://glygen.org/publication/PubMed/10642527" }, { "database": "PubMed", "id": "11297520", "url": "https://glygen.org/publication/PubMed/11297520" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "194", "end_pos": "194", "site_lbl": "Asp194", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of kinase activity and descreased phosphorylation.", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "433", "end_pos": "433", "site_lbl": "Cys433", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "A", "comment": "Does not affect nuclear localization. Does not prevent phosphorylation at S-431.", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" }, { "database": "PubMed", "id": "11853558", "url": "https://glygen.org/publication/PubMed/11853558" }, { "database": "PubMed", "id": "10642527", "url": "https://glygen.org/publication/PubMed/10642527" }, { "database": "PubMed", "id": "11297520", "url": "https://glygen.org/publication/PubMed/11297520" } ] } ] }, { "uniprot_canonical_ac": "Q9WTK7-1", "start_pos": "78", "end_pos": "78", "site_lbl": "Lys78", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "I", "comment": "Loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q9WTK7", "url": "https://www.uniprot.org/uniprotkb/Q9WTK7" } ] } ] } ], "record_id": "batch.mouse.18" }, { "uniprot_canonical_ac": "Q9DBG3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": 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"url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "AP-2 adaptor complex", "id": "GO:0030122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030122", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "clathrin adaptor complex", "id": "GO:0030131", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030131", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "synaptic vesicle", "id": "GO:0008021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008021", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "postsynaptic endocytic zone", "id": "GO:0098843", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098843", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "extrinsic component of presynaptic endocytic zone membrane", "id": "GO:0098894", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098894", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "endomembrane system", "id": "GO:0012505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0012505", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "membrane coat", "id": "GO:0030117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030117", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" } ], "biological_process": [ { "name": "postsynaptic neurotransmitter receptor internalization", "id": "GO:0098884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098884", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "intracellular protein transport", "id": "GO:0006886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006886", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "vesicle-mediated transport", "id": "GO:0016192", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016192", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "ventricular septum development", "id": "GO:0003281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003281", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "aorta development", "id": "GO:0035904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035904", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "clathrin coat assembly", "id": "GO:0048268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048268", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "coronary vasculature development", "id": "GO:0060976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060976", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "clathrin-dependent endocytosis", "id": "GO:0072583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072583", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "neurotransmitter secretion", "id": "GO:0007269", "url": 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"url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905477", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "Q9DBG3", "url": "https://www.uniprot.org/uniprotkb/Q9DBG3" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "Q9DBG3-1", "start_pos": "682", "end_pos": "682", "site_lbl": "Thr682", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "", "prediction_tool_list": [ { "label": "isoglyp", "url": 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"" }, { "name": "calcium-activated potassium channel activity", "id": "GO:0015269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015269", "evidence": [ { "database": "UniProtKB", "id": "Q3TMP8", "url": "https://www.uniprot.org/uniprotkb/Q3TMP8" } ], "pmid": "" } ], "biological_process": [ { "name": "transmembrane transport", "id": "GO:0055085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055085", "evidence": [ { "database": "UniProtKB", "id": "Q3TMP8", "url": "https://www.uniprot.org/uniprotkb/Q3TMP8" } ], "pmid": "" }, { "name": "regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion", "id": "GO:0010881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010881", "evidence": [ { "database": "UniProtKB", "id": "Q3TMP8", "url": "https://www.uniprot.org/uniprotkb/Q3TMP8" } ], "pmid": "" }, { "name": "regulation of release of sequestered calcium ion into cytosol", "id": "GO:0051279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051279", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0071313", "evidence": [ { "database": "UniProtKB", "id": "Q3TMP8", "url": "https://www.uniprot.org/uniprotkb/Q3TMP8" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.18" }, { "uniprot_canonical_ac": "P10639-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P10639", "url": "https://www.uniprot.org/uniprotkb/P10639" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 105, "chemical_mass": 11675.0, "gene_names": "Txn;ADF;Trx1;Txn1;Txn", "protein_name": "Thioredoxin", "disease": [ { "disease_id": "DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": 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"An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "weight": 0.0 }, { "disease_id": "DOID:8805", "name": "intermediate coronary syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:8805", "evidence": [ { "id": "8805", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P10639", "url": "https://www.uniprot.org/uniprotkb/P10639" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P10639", "url": "https://www.uniprot.org/uniprotkb/P10639" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P10639", "url": "https://www.uniprot.org/uniprotkb/P10639" } ], "pmid": "" } ], "biological_process": [ { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "P10639", "url": "https://www.uniprot.org/uniprotkb/P10639" } ], "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": "P10639", "url": "https://www.uniprot.org/uniprotkb/P10639" } ], "pmid": "" }, { "name": "cell redox homeostasis", "id": "GO:0045454", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045454", "evidence": [ { "database": "UniProtKB", "id": "P10639", "url": "https://www.uniprot.org/uniprotkb/P10639" } ], "pmid": "" }, { "name": "response to radiation", "id": "GO:0009314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009314", "evidence": [ { "database": "UniProtKB", "id": "P10639", "url": "https://www.uniprot.org/uniprotkb/P10639" } ], "pmid": "" }, { "name": "positive regulation of DNA binding", "id": "GO:0043388", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043388", "evidence": [ { "database": "UniProtKB", "id": "P10639", "url": "https://www.uniprot.org/uniprotkb/P10639" } ], "pmid": "" }, { "name": "response to nitric oxide", "id": "GO:0071731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071731", "evidence": [ { "database": "UniProtKB", "id": "P10639", "url": "https://www.uniprot.org/uniprotkb/P10639" } ], "pmid": "" }, { "name": "cellular detoxification of hydrogen peroxide", "id": "GO:0061692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061692", "evidence": [ { "database": "UniProtKB", "id": "P10639", "url": "https://www.uniprot.org/uniprotkb/P10639" } ], "pmid": "" } ], "molecular_function": [ { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "P10639", "url": "https://www.uniprot.org/uniprotkb/P10639" } ], "pmid": "" }, { "name": "protein-disulfide reductase [NAD(P)H] activity", "id": "GO:0047134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047134", "evidence": [ { "database": "UniProtKB", "id": "P10639", "url": "https://www.uniprot.org/uniprotkb/P10639" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P10639-1", "start_pos": "76", "end_pos": "76", "site_lbl": "Thr76", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "iPTMnet", "id": "P10639", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P10639" }, { "database": "PubMed", "id": "23747528", "url": "https://glygen.org/publication/PubMed/23747528" } ] } ] } ], "record_id": "batch.mouse.18" }, { "uniprot_canonical_ac": "P41047-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 279, "chemical_mass": 31442.0, "gene_names": "Faslg;APT1LG1;Apt1lg1;CD178;CD95-L;CD95L;Cd95l;Fas-L;Faslg;Fasl;Tnfsf6;Tnlg1a;gld", "protein_name": "Tumor necrosis factor ligand superfamily member 6", "disease": [ { "disease_id": "DOID:0050625", "name": "biliary tract benign neoplasm", "description": "A hepatobiliary benign neoplasm located_in the biliary tract.", "url": "https://disease-ontology.org/term/DOID:0050625", "evidence": [ { "id": "0050625", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050625" } ], "weight": 0.0 }, { "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 }, { "disease_id": "DOID:0060108", "name": "brain glioma", "description": "A brain cancer that has_material_basis_in glial cells.", "url": "https://disease-ontology.org/term/DOID:0060108", "evidence": [ { "id": "0060108", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060108" } ], "weight": 0.0 }, { "disease_id": "DOID:0081267", "name": "graft-versus-host disease", "description": "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32.", "url": "https://disease-ontology.org/term/DOID:0081267", "evidence": [ { "id": "0081267", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081267" } ], "weight": 0.0 }, { "disease_id": "DOID: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:10808", "name": "gastric ulcer", "description": "", "url": "https://disease-ontology.org/term/DOID:10808", "evidence": [ { "id": "10808", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10808" } ], "weight": 0.0 }, { "disease_id": "DOID: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:11713", "name": "diabetic angiopathy", "description": "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes.", "url": "https://disease-ontology.org/term/DOID:11713", "evidence": [ { "id": "11713", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11713" } ], "weight": 0.0 }, { "disease_id": "DOID:127", "name": "leiomyoma", "description": "A cell type benign neoplasm that is a benign tumor of smooth muscle cells.", "url": "https://disease-ontology.org/term/DOID:127", "evidence": [ { "id": "127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:127" } ], "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:13133", "name": "HELLP syndrome", "description": "A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count.", "url": "https://disease-ontology.org/term/DOID:13133", "evidence": [ { "id": "13133", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13133" } ], "weight": 0.0 }, { "disease_id": "DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:1324", "evidence": [ { "id": "1324", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ], "weight": 0.0 }, { "disease_id": "DOID:13767", "name": "clonorchiasis", "description": "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop.", "url": "https://disease-ontology.org/term/DOID:13767", "evidence": [ { "id": "13767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13767" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "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:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2316", "name": "brain ischemia", "description": "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand.", "url": "https://disease-ontology.org/term/DOID:2316", "evidence": [ { "id": "2316", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2316" } ], "weight": 0.0 }, { "disease_id": "DOID:2377", "name": "multiple sclerosis", "description": "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.", "url": "https://disease-ontology.org/term/DOID:2377", "evidence": [ { "id": "2377", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2377" } ], "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:303", "name": "substance-related disorder", "description": "A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning.", "url": "https://disease-ontology.org/term/DOID:303", "evidence": [ { "id": "303", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:303" } ], "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:3457", "name": "invasive lobular carcinoma", "description": "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated.", "url": "https://disease-ontology.org/term/DOID:3457", "evidence": [ { "id": "3457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3457" } ], "weight": 0.0 }, { "disease_id": "DOID:3587", "name": "pancreatic ductal carcinoma", "description": "A pancreatic carcinoma located_in the pancreatic duct.", "url": "https://disease-ontology.org/term/DOID:3587", "evidence": [ { "id": "3587", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3587" } ], "weight": 0.0 }, { "disease_id": "DOID:409", "name": "liver disease", "description": "", "url": "https://disease-ontology.org/term/DOID:409", "evidence": [ { "id": "409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:409" } ], "weight": 0.0 }, { "disease_id": "DOID:4440", "name": "seminoma", "description": "A germinoma that has_material_basis_in cells that make sperm and eggs.", "url": "https://disease-ontology.org/term/DOID:4440", "evidence": [ { "id": "4440", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4440" } ], "weight": 0.0 }, { "disease_id": "DOID:4928", "name": "intrahepatic cholangiocarcinoma", "description": "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree.", "url": "https://disease-ontology.org/term/DOID:4928", "evidence": [ { "id": "4928", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4928" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6688", "name": "autoimmune lymphoproliferative syndrome", "description": "A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. 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"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:8568", "name": "infectious mononucleosis", "description": "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 (Lymphocryptovirus humangamma4) and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly.", "url": "https://disease-ontology.org/term/DOID:8568", "evidence": [ { "id": "8568", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8568" } ], "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: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: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:9538", "name": "multiple 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"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": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "positive regulation of epidermal growth factor receptor signaling pathway", "id": "GO:0045742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045742", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "positive regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001238", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001238", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": 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{ "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P41047", "url": "https://www.uniprot.org/uniprotkb/P41047" } ], "pmid": "" }, { "name": "cytoplasmic vesicle lumen", "id": "GO:0060205", "url": 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Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip.", "url": "https://disease-ontology.org/term/DOID:0050127", "evidence": [ { "id": "0050127", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050127" } ], "weight": 0.0 }, { "disease_id": "DOID:0080162", "name": "lupus nephritis", "description": "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus.", "url": "https://disease-ontology.org/term/DOID:0080162", "evidence": [ { "id": "0080162", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080162" } ], "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:0080998", "name": "acute necrotizing pancreatitis", "description": "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems.", "url": "https://disease-ontology.org/term/DOID:0080998", "evidence": [ { "id": "0080998", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080998" } ], "weight": 0.0 }, { "disease_id": "DOID:10223", "name": "dermatomyositis", "description": "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction.", "url": "https://disease-ontology.org/term/DOID:10223", "evidence": [ { "id": "10223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10223" } ], "weight": 0.0 }, { "disease_id": "DOID:10533", "name": "viral pneumonia", "description": "A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus.", "url": "https://disease-ontology.org/term/DOID:10533", "evidence": [ { "id": "10533", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10533" } ], "weight": 0.0 }, { "disease_id": "DOID:10690", "name": "mastitis", "description": "A breast disease characterized by painful infection of the breast tissue.", "url": "https://disease-ontology.org/term/DOID:10690", "evidence": [ { "id": "10690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10690" } ], "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:11168", "name": "anogenital venereal wart", "description": "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. 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": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "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": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "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": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "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": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "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": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "pmid": "" }, { "name": "microglial cell activation", "id": "GO:0001774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001774", "evidence": [ { "database": "UniProtKB", "id": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "pmid": "" }, { "name": "immune response", "id": "GO:0006955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006955", "evidence": [ { "database": "UniProtKB", "id": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "pmid": "" }, { "name": "positive regulation of MAPK cascade", "id": "GO:0043410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043410", "evidence": [ { "database": "UniProtKB", "id": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "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": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "pmid": "" }, { "name": "positive regulation of JNK cascade", "id": "GO:0046330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046330", "evidence": [ { "database": "UniProtKB", "id": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "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": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "pmid": "" }, { "name": "maintenance of gastrointestinal epithelium", "id": "GO:0030277", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030277", "evidence": [ { "database": "UniProtKB", "id": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "pmid": "" }, { "name": "positive regulation of chemokine production", "id": "GO:0032722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032722", "evidence": [ { "database": "UniProtKB", "id": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "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": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "pmid": "" }, { "name": "positive regulation of cytokine production", "id": "GO:0001819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001819", "evidence": [ { "database": "UniProtKB", "id": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "pmid": "" }, { "name": "male gonad development", "id": "GO:0008584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008584", "evidence": [ { "database": "UniProtKB", "id": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "pmid": "" }, { "name": "response to virus", "id": "GO:0009615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009615", "evidence": [ { "database": "UniProtKB", "id": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "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": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "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": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q9EQU3", "url": "https://www.uniprot.org/uniprotkb/Q9EQU3" } ], "pmid": "" }, 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"inner acrosomal membrane", "id": "GO:0002079", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002079", "evidence": [ { "database": "UniProtKB", "id": "Q9D9S2", "url": "https://www.uniprot.org/uniprotkb/Q9D9S2" } ], "pmid": "" }, { "name": "outer acrosomal membrane", "id": "GO:0002081", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002081", "evidence": [ { "database": "UniProtKB", "id": "Q9D9S2", "url": "https://www.uniprot.org/uniprotkb/Q9D9S2" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9D9S2", "url": "https://www.uniprot.org/uniprotkb/Q9D9S2" } ], "pmid": "" } ], "biological_process": [ { "name": "negative regulation of phosphatase activity", "id": "GO:0010923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010923", "evidence": [ { "database": "UniProtKB", "id": "Q9D9S2", "url": "https://www.uniprot.org/uniprotkb/Q9D9S2" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.18" }, { "uniprot_canonical_ac": "Q9EPW9-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q9EPW9", "url": "https://www.uniprot.org/uniprotkb/Q9EPW9" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 795, "chemical_mass": 91116.0, "gene_names": "Tlr6;Tlr6", "protein_name": "Toll-like receptor 6", "disease": [ { "disease_id": "DOID:0060000", "name": "infective endocarditis", "description": "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents.", "url": "https://disease-ontology.org/term/DOID:0060000", "evidence": [ { "id": "0060000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060000" } ], "weight": 0.0 }, { "disease_id": "DOID:13564", "name": "aspergillosis", "description": "An opportunistic mycosis that involves a spectrum of 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"name": "response to bacterial lipoprotein", "id": "GO:0032493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032493", "evidence": [ { "database": "UniProtKB", "id": "Q9EPW9", "url": "https://www.uniprot.org/uniprotkb/Q9EPW9" } ], "pmid": "" }, { "name": "antibacterial innate immune response", "id": "GO:0140367", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140367", "evidence": [ { "database": "UniProtKB", "id": "Q9EPW9", "url": "https://www.uniprot.org/uniprotkb/Q9EPW9" } ], "pmid": "" } ], "molecular_function": [ { "name": "transmembrane signaling receptor activity", "id": "GO:0004888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004888", "evidence": [ { "database": "UniProtKB", "id": "Q9EPW9", "url": "https://www.uniprot.org/uniprotkb/Q9EPW9" } ], "pmid": "" }, { "name": "signaling receptor binding", "id": "GO:0005102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005102", "evidence": [ { "database": "UniProtKB", "id": "Q9EPW9", "url": 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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:326", "name": "ischemia", "description": "A vascular disease that is characterized by a restriction in blood supply to tissues.", "url": "https://disease-ontology.org/term/DOID:326", "evidence": [ { "id": "326", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:326" } ], "weight": 0.0 }, { "disease_id": "DOID:3355", "name": "fibrosarcoma", "description": "A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern.", "url": "https://disease-ontology.org/term/DOID:3355", "evidence": [ { "id": "3355", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3355" } ], "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:3525", "name": "middle cerebral artery infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:3525", "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ], "weight": 0.0 }, { "disease_id": "DOID: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:5199", "name": "ureteral obstruction", "description": "An urinary tract obstruction that is characterized by a blockage in one or both of the tubes (ureters) that carry urine from the kidneys to the bladder.", "url": "https://disease-ontology.org/term/DOID:5199", "evidence": [ { "id": "5199", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5199" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "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: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:6543", "name": "acne", "description": "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring.", "url": "https://disease-ontology.org/term/DOID:6543", "evidence": [ { "id": "6543", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6543" } ], "weight": 0.0 }, { "disease_id": "DOID:7148", "name": "rheumatoid arthritis", "description": "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.", "url": "https://disease-ontology.org/term/DOID:7148", "evidence": [ { "id": "7148", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:7148" } ], "weight": 0.0 }, { "disease_id": "DOID: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:841", "name": "extrinsic allergic alveolitis", "description": "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss.", "url": "https://disease-ontology.org/term/DOID:841", "evidence": [ { "id": "841", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:841" } ], "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:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID: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:9120", "name": "amyloidosis", "description": "A disease of metabolism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.", "url": "https://disease-ontology.org/term/DOID:9120", "evidence": [ { "id": "9120", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9120" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9970", "name": "obesity", "description": "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness.", "url": "https://disease-ontology.org/term/DOID:9970", "evidence": [ { "id": "9970", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9970" } ], "weight": 0.0 } ], "biological_process": [ { "name": "positive regulation of protein import into nucleus", "id": "GO:0042307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042307", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "regulation of establishment of endothelial barrier", "id": "GO:1903140", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903140", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "defense response", "id": "GO:0006952", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006952", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "cell surface receptor signaling pathway", "id": "GO:0007166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "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": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "protein localization to plasma membrane", "id": "GO:0072659", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072659", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "negative regulation of interleukin-6 production", "id": "GO:0032715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032715", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "positive regulation of angiogenesis", "id": "GO:0045766", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045766", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "negative regulation of inflammatory response", "id": "GO:0050728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050728", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "apoptotic signaling pathway", "id": "GO:0097190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097190", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "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": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage", "id": "GO:0008630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008630", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "positive regulation of inflammatory response", "id": "GO:0050729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050729", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "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": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "prostaglandin metabolic process", "id": "GO:0006693", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006693", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "defense response to bacterium", "id": "GO:0042742", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042742", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "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": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "cellular response to mechanical stimulus", "id": "GO:0071260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071260", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "tumor necrosis factor-mediated signaling pathway", "id": "GO:0033209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033209", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "non-canonical NF-kappaB signal transduction", "id": "GO:0038061", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038061", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "regulation of tumor necrosis factor-mediated signaling pathway", "id": "GO:0010803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010803", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway via death domain receptors", "id": "GO:0008625", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008625", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "cytokine-mediated signaling pathway", "id": "GO:0019221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019221", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "positive regulation of execution phase of apoptosis", "id": "GO:1900119", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900119", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle hypertrophy", "id": "GO:0010614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010614", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "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": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "pulmonary valve development", "id": "GO:0003177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003177", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "negative regulation of extracellular matrix constituent secretion", "id": "GO:0003332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003332", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process involved in morphogenesis", "id": "GO:1902339", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902339", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "aortic valve development", "id": "GO:0003176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003176", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P25118", "url": "https://www.uniprot.org/uniprotkb/P25118" } ], "pmid": "" }, { "name": 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"pmid": "" }, { "name": "cellular response to lipopolysaccharide", "id": "GO:0071222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071222", "evidence": [ { "database": "UniProtKB", "id": "Q60769", "url": "https://www.uniprot.org/uniprotkb/Q60769" } ], "pmid": "" }, { "name": "response to wounding", "id": "GO:0009611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009611", "evidence": [ { "database": "UniProtKB", "id": "Q60769", "url": "https://www.uniprot.org/uniprotkb/Q60769" } ], "pmid": "" }, { "name": "B-1 B cell homeostasis", "id": "GO:0001922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001922", "evidence": [ { "database": "UniProtKB", "id": "Q60769", "url": "https://www.uniprot.org/uniprotkb/Q60769" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q60769", "url": "https://www.uniprot.org/uniprotkb/Q60769" } ], "pmid": "" }, { "name": "negative regulation of canonical NF-kappaB signal transduction", "id": "GO:0043124", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043124", "evidence": [ { "database": "UniProtKB", "id": "Q60769", "url": "https://www.uniprot.org/uniprotkb/Q60769" } ], "pmid": "" }, { "name": "cellular response to hydrogen peroxide", "id": "GO:0070301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070301", "evidence": [ { "database": "UniProtKB", "id": "Q60769", "url": "https://www.uniprot.org/uniprotkb/Q60769" } ], "pmid": "" }, { "name": "negative regulation of endothelial cell apoptotic process", "id": "GO:2000352", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000352", "evidence": [ { "database": "UniProtKB", "id": "Q60769", "url": "https://www.uniprot.org/uniprotkb/Q60769" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q60769", "url": "https://www.uniprot.org/uniprotkb/Q60769" } ], "pmid": "" }, { "name": "negative regulation of smooth muscle cell proliferation", "id": "GO:0048662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048662", "evidence": [ { "database": "UniProtKB", "id": "Q60769", "url": "https://www.uniprot.org/uniprotkb/Q60769" } ], "pmid": "" }, { "name": "negative regulation of extrinsic apoptotic signaling pathway", "id": "GO:2001237", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001237", "evidence": [ { "database": "UniProtKB", "id": "Q60769", "url": "https://www.uniprot.org/uniprotkb/Q60769" } ], "pmid": "" }, { "name": "negative regulation of protein ubiquitination", "id": "GO:0031397", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031397", "evidence": [ { "database": "UniProtKB", "id": "Q60769", "url": "https://www.uniprot.org/uniprotkb/Q60769" } ], "pmid": "" }, { "name": "negative regulation of heterotypic cell-cell adhesion", "id": "GO:0034115", "url": 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Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1.", "url": "https://disease-ontology.org/term/DOID:0060055", "evidence": [ { "id": "0060055", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060055" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK0", "url": "https://www.uniprot.org/uniprotkb/Q9ERK0" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK0", "url": "https://www.uniprot.org/uniprotkb/Q9ERK0" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK0", "url": "https://www.uniprot.org/uniprotkb/Q9ERK0" } ], "pmid": "" } ], "cellular_component": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK0", "url": "https://www.uniprot.org/uniprotkb/Q9ERK0" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK0", "url": "https://www.uniprot.org/uniprotkb/Q9ERK0" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK0", "url": "https://www.uniprot.org/uniprotkb/Q9ERK0" } ], "pmid": "" } ], "biological_process": [ { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK0", "url": "https://www.uniprot.org/uniprotkb/Q9ERK0" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK0", "url": "https://www.uniprot.org/uniprotkb/Q9ERK0" } ], "pmid": "" }, { "name": "morphogenesis of an epithelium", "id": "GO:0002009", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002009", "evidence": [ { "database": "UniProtKB", "id": "Q9ERK0", "url": "https://www.uniprot.org/uniprotkb/Q9ERK0" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [], "record_id": "batch.mouse.18" }, { "uniprot_canonical_ac": "Q91ZR2-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q91ZR2", "url": "https://www.uniprot.org/uniprotkb/Q91ZR2" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 614, "chemical_mass": 67904.0, "gene_names": "Snx18;Snag1", "protein_name": "Sorting nexin-18", "disease": [ { "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": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q91ZR2", "url": "https://www.uniprot.org/uniprotkb/Q91ZR2" } ], "pmid": "" }, { "name": "phosphatidylinositol binding", "id": "GO:0035091", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035091", "evidence": [ { "database": "UniProtKB", "id": "Q91ZR2", "url": "https://www.uniprot.org/uniprotkb/Q91ZR2" } ], "pmid": "" } ], "cellular_component": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q91ZR2", "url": "https://www.uniprot.org/uniprotkb/Q91ZR2" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q91ZR2", "url": "https://www.uniprot.org/uniprotkb/Q91ZR2" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q91ZR2", "url": "https://www.uniprot.org/uniprotkb/Q91ZR2" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q91ZR2", "url": "https://www.uniprot.org/uniprotkb/Q91ZR2" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q91ZR2", "url": "https://www.uniprot.org/uniprotkb/Q91ZR2" } ], "pmid": "" }, { "name": "recycling endosome membrane", "id": "GO:0055038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055038", "evidence": [ { "database": "UniProtKB", "id": "Q91ZR2", "url": "https://www.uniprot.org/uniprotkb/Q91ZR2" } ], "pmid": "" }, { "name": "cytoplasmic side of plasma membrane", "id": "GO:0009898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009898", "evidence": [ { "database": "UniProtKB", "id": "Q91ZR2", "url": "https://www.uniprot.org/uniprotkb/Q91ZR2" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q91ZR2", "url": "https://www.uniprot.org/uniprotkb/Q91ZR2" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q91ZR2", "url": "https://www.uniprot.org/uniprotkb/Q91ZR2" } ], "pmid": "" }, { "name": "positive regulation of GTPase activity", "id": "GO:0043547", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043547", "evidence": [ { "database": "UniProtKB", "id": "Q91ZR2", "url": "https://www.uniprot.org/uniprotkb/Q91ZR2" } ], "pmid": "" }, { "name": "endosomal transport", "id": "GO:0016197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016197", "evidence": [ { "database": "UniProtKB", "id": "Q91ZR2", "url": "https://www.uniprot.org/uniprotkb/Q91ZR2" } ], "pmid": "" }, { "name": "mitotic cytokinesis", "id": "GO:0000281", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000281", "evidence": [ { "database": "UniProtKB", "id": "Q91ZR2", "url": "https://www.uniprot.org/uniprotkb/Q91ZR2" } ], "pmid": "" }, { "name": "cleavage furrow formation", "id": "GO:0036089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036089", "evidence": [ { "database": "UniProtKB", "id": "Q91ZR2", "url": 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"id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "P68369", "url": "https://www.uniprot.org/uniprotkb/P68369" } ], "pmid": "" }, { "name": "myelin sheath", "id": "GO:0043209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043209", "evidence": [ { "database": "UniProtKB", "id": "P68369", "url": "https://www.uniprot.org/uniprotkb/P68369" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "P68369", "url": "https://www.uniprot.org/uniprotkb/P68369" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "P68369", "url": "https://www.uniprot.org/uniprotkb/P68369" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "P68369", "url": "https://www.uniprot.org/uniprotkb/P68369" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "P68369", "url": "https://www.uniprot.org/uniprotkb/P68369" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "P68369", "url": "https://www.uniprot.org/uniprotkb/P68369" } ], "pmid": "" }, { "name": "condensed chromosome", "id": "GO:0000793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000793", "evidence": [ { "database": "UniProtKB", "id": "P68369", "url": "https://www.uniprot.org/uniprotkb/P68369" } ], "pmid": "" }, { "name": "cytoplasmic ribonucleoprotein granule", "id": "GO:0036464", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036464", "evidence": [ { "database": "UniProtKB", "id": "P68369", "url": "https://www.uniprot.org/uniprotkb/P68369" } ], "pmid": "" }, { "name": "cytoplasmic microtubule", "id": "GO:0005881", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005881", "evidence": [ { "database": "UniProtKB", "id": "P68369", "url": "https://www.uniprot.org/uniprotkb/P68369" } ], "pmid": "" }, { "name": "axonemal microtubule", "id": "GO:0005879", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005879", "evidence": [ { "database": "UniProtKB", "id": "P68369", "url": "https://www.uniprot.org/uniprotkb/P68369" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P68369-1", "start_pos": "380", "end_pos": "380", "site_lbl": "Asn380", "weight": 0.0, "glycosylation": [ { "glytoucan_ac": "G01650EU", "type": "N-linked", "subtype": "", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "AVCMLSNTTAIAEAWAR", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 380, "start_aa": "Asn", "end_pos": 380, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn380", "evidence": [ { "id": "10.1101/2023.09.13.557529", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" }, { "id": "GLY_000889", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000889" } ] } ] }, { "uniprot_canonical_ac": "P68369-1", "start_pos": "439", "end_pos": "439", "site_lbl": "Ser439", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P68369", "url": "https://www.uniprot.org/uniprotkb/P68369" } ] } ] }, { "uniprot_canonical_ac": "P68369-1", "start_pos": "188", "end_pos": "188", "site_lbl": "Ile188", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NSI->NST).", "chr_id": "15", "chr_pos": "98848708", "evidence": [ { "id": "rs3552074060", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3552074060" } ] } ] }, { "uniprot_canonical_ac": "P68369-1", "start_pos": "331", "end_pos": "331", "site_lbl": "Ala331", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: n-glyco-sequon-gain (NAA->NAS).", "chr_id": "15", "chr_pos": "98848280", "evidence": [ { "id": "rs3551969786", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3551969786" } ] } ] } ], "record_id": "batch.mouse.18" }, { "uniprot_canonical_ac": "Q3TBT3-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 378, "chemical_mass": 42830.0, "gene_names": "Sting1;2610307O08Rik;ERIS;Eris;MPYS;Mita;Mpys;STING-beta;STING;Sting1;Sting;Tmem173", "protein_name": "Stimulator of interferon genes protein", "disease": [ { "disease_id": "DOID:0111457", "name": "STING-associated vasculopathy with onset in infancy", "description": "An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31.", "url": "https://disease-ontology.org/term/DOID:0111457", "evidence": [ { "id": "0111457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111457" } ], "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 } ], "biological_process": [ { "name": "cellular response to exogenous dsRNA", "id": "GO:0071360", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071360", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "pattern recognition receptor signaling pathway", "id": "GO:0002221", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002221", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "autophagosome assembly", "id": "GO:0000045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000045", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "innate immune response", "id": "GO:0045087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "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": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "protein complex oligomerization", "id": "GO:0051259", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051259", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "defense response to virus", "id": "GO:0051607", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051607", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "regulation of inflammatory response", "id": "GO:0050727", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050727", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "positive regulation of defense response to virus by host", "id": "GO:0002230", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002230", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "positive regulation of macroautophagy", "id": "GO:0016239", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016239", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "activation of innate immune response", "id": "GO:0002218", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002218", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "cellular response to interferon-beta", "id": "GO:0035458", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035458", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "protein localization to endoplasmic reticulum", "id": "GO:0070972", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070972", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "positive regulation of type I interferon production", "id": "GO:0032481", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032481", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "positive regulation of type I interferon-mediated signaling pathway", "id": "GO:0060340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060340", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "reticulophagy", "id": "GO:0061709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061709", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "positive regulation of interferon-beta production", "id": "GO:0032728", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032728", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "protein exit from endoplasmic reticulum", "id": "GO:0032527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032527", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "cytoplasmic pattern recognition receptor signaling pathway", "id": "GO:0002753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002753", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "antiviral innate immune response", "id": "GO:0140374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140374", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "cGAS/STING signaling pathway", "id": "GO:0140896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140896", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "positive regulation of cGAS/STING signaling pathway", "id": "GO:0141111", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141111", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "autophagosome membrane", "id": "GO:0000421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000421", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "perinuclear region of cytoplasm", "id": "GO:0048471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048471", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "endoplasmic reticulum-Golgi intermediate compartment membrane", "id": "GO:0033116", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033116", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "autophagosome", "id": "GO:0005776", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005776", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" }, { "name": "STING complex", "id": "GO:1990231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990231", "evidence": [ { "database": "UniProtKB", "id": "Q3TBT3", "url": "https://www.uniprot.org/uniprotkb/Q3TBT3" } ], "pmid": "" } ], "molecular_function": [ { "name": "transcription coactivator activity", "id": "GO:0003713", "url": 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No difference in the expression or localization of tip link proteins CDH23 and PCDH15 or ATP2B2, MYO7A, ESPN and WHRN proteins at P5-P8 in hair bundles of hair cells. No difference in the number of tip links in IHCs and OHCs at P7-P8. No difference in the levels of catecholamines, including norepinephrine, homovanillic acid (HVA) and norepinephrine, or serotonin levels in the inner ear. 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signaling pathway", "id": "GO:1903082", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903082", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "positive regulation of CD40 signaling pathway", "id": "GO:2000350", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000350", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "CXCL12-activated CXCR4 signaling pathway", "id": "GO:0038160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038160", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": "complement-mediated synapse pruning", "id": "GO:0150062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0150062", "evidence": [ { "database": "UniProtKB", "id": "Q99NH8", "url": "https://www.uniprot.org/uniprotkb/Q99NH8" } ], "pmid": "" }, { "name": 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The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress.", "url": "https://disease-ontology.org/term/DOID:1273", "evidence": [ { "id": "1273", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1273" } ], "weight": 0.0 }, { "disease_id": "DOID: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:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.", "url": "https://disease-ontology.org/term/DOID:1307", "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ], "weight": 0.0 }, { "disease_id": "DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.", "url": "https://disease-ontology.org/term/DOID:14330", "evidence": [ { "id": "14330", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14330" } ], "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:1596", "name": "depressive disorder", "description": "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function.", "url": "https://disease-ontology.org/term/DOID:1596", "evidence": [ { "id": "1596", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1596" } ], "weight": 0.0 }, { "disease_id": "DOID:1679", "name": "cystitis", "description": "A bladder disease that is characterized by inflammation of the bladder.", "url": "https://disease-ontology.org/term/DOID:1679", "evidence": [ { "id": "1679", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1679" } ], "weight": 0.0 }, { "disease_id": "DOID:1686", "name": "glaucoma", "description": "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function.", "url": "https://disease-ontology.org/term/DOID:1686", "evidence": [ { "id": "1686", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1686" } ], "weight": 0.0 }, { "disease_id": "DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas.", "url": "https://disease-ontology.org/term/DOID:1793", "evidence": [ { "id": "1793", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ], "weight": 0.0 }, { "disease_id": "DOID: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. 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"evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "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": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "positive regulation of excitatory postsynaptic potential", "id": "GO:2000463", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000463", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "positive regulation of synaptic transmission, glutamatergic", "id": "GO:0051968", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051968", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "positive regulation of apoptotic signaling pathway", "id": "GO:2001235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001235", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "negative regulation of neuron projection development", "id": "GO:0010977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010977", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "glucose homeostasis", "id": "GO:0042593", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042593", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "intracellular glucose homeostasis", "id": "GO:0001678", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001678", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "negative regulation of angiogenesis", "id": "GO:0016525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016525", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "positive regulation of Rho protein signal transduction", "id": "GO:0035025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035025", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "extrinsic apoptotic signaling pathway", "id": "GO:0097191", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097191", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "skin development", "id": "GO:0043588", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043588", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "positive regulation of neural precursor cell proliferation", "id": "GO:2000179", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000179", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "regulation of reactive oxygen species metabolic process", "id": "GO:2000377", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000377", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell apoptotic process", "id": "GO:2000353", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000353", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "regulation of gene expression", "id": "GO:0010468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010468", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "nerve development", "id": "GO:0021675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021675", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "circadian regulation of gene expression", "id": "GO:0032922", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032922", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "positive regulation of protein localization to nucleus", "id": "GO:1900182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900182", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "detection of temperature stimulus", "id": "GO:0016048", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016048", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "hair follicle morphogenesis", "id": "GO:0031069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031069", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "negative regulation of dendritic spine development", "id": "GO:0061000", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061000", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "negative regulation of fibroblast growth factor receptor signaling pathway", "id": "GO:0040037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040037", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "negative regulation of hair follicle development", "id": "GO:0051799", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051799", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "negative regulation of mitochondrial depolarization", "id": "GO:0051902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051902", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": "positive regulation of miRNA transcription", "id": "GO:1902895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902895", "evidence": [ { "database": "UniProtKB", "id": "Q9Z0W1", "url": "https://www.uniprot.org/uniprotkb/Q9Z0W1" } ], "pmid": "" }, { "name": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0055089", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "O35426", "url": "https://www.uniprot.org/uniprotkb/O35426" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": 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"https://glygen.org/publication/PubMed/40021952" }, { "id": "29125738", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29125738" }, { "id": "40885482", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/40885482" }, { "id": "P05064", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P05064" }, { "id": "32848054", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32848054" } ] } ], "snv": [ { "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 3 filters: n-glyco-sequon-gain (SES->NES); o-glyco-site-loss (S->N); glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "126394625", "evidence": [ { "id": "rs3388946800", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388946800" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "132", "end_pos": "132", "site_lbl": "Ser132", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05064", "url": "https://www.uniprot.org/uniprotkb/P05064" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "272", "end_pos": "272", "site_lbl": "Ser272", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05064", "url": "https://www.uniprot.org/uniprotkb/P05064" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "36", "end_pos": "36", "site_lbl": "Ser36", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05064", "url": "https://www.uniprot.org/uniprotkb/P05064" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "39", "end_pos": "39", "site_lbl": "Ser39", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05064", "url": "https://www.uniprot.org/uniprotkb/P05064" }, { "database": "PubMed", "id": "40446798", "url": "https://glygen.org/publication/PubMed/40446798" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreased glycolysis.", "evidence": [ { "database": "UniProtKB", "id": "P05064", "url": "https://www.uniprot.org/uniprotkb/P05064" }, { "database": "PubMed", "id": "40446798", "url": "https://glygen.org/publication/PubMed/40446798" } ] }, { "sequence_org": "S", "sequence_mut": "E", "comment": "Mimics phosphorylation; increased glycolysis.", "evidence": [ { "database": "UniProtKB", "id": "P05064", "url": "https://www.uniprot.org/uniprotkb/P05064" }, { "database": "PubMed", "id": "40446798", "url": "https://glygen.org/publication/PubMed/40446798" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "46", "end_pos": "46", "site_lbl": "Ser46", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05064", "url": "https://www.uniprot.org/uniprotkb/P05064" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "5", "end_pos": "5", "site_lbl": "Tyr5", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05064", "url": "https://www.uniprot.org/uniprotkb/P05064" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "9", "end_pos": "9", "site_lbl": "Thr9", "weight": 0.0, "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "evidence": [ { "database": "UniProtKB", "id": "P05064", "url": "https://www.uniprot.org/uniprotkb/P05064" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "57", "end_pos": "57", "site_lbl": "Arg57", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 2 filters: n-glyco-sequon-gain (NRR->NRC); glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "126396664", "evidence": [ { "id": "rs3388953028", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388953028" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Lys13", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "126396891", "evidence": [ { "id": "rs3388953025", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388953025" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "201", "end_pos": "201", "site_lbl": "Arg201", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "126395411", "evidence": [ { "id": "rs1132803715", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1132803715" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "210", "end_pos": "210", "site_lbl": "Leu210", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "126395293", "evidence": [ { "id": "rs3388904771", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388904771" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "228", "end_pos": "228", "site_lbl": "Leu228", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "W", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "126395238", "evidence": [ { "id": "rs3546173986", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3546173986" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "234", "end_pos": "234", "site_lbl": "Val234", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "126395221", "evidence": [ { "id": "rs3388937181", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388937181" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "246", "end_pos": "246", "site_lbl": "Asn246", "weight": 0.0, "snv": [ { "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "126395184", "evidence": [ { "id": "rs3388920873", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388920873" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Ile249", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "126395176", "evidence": [ { "id": "rs3388937259", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388937259" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Met251", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "126395168", "evidence": [ { "id": "rs3388952192", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388952192" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "253", "end_pos": "253", "site_lbl": "Thr253", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, carbohydrate synthesis and metabolism/metabolic enzymes.", "chr_id": "7", "chr_pos": "126395163", "evidence": [ { "id": "rs3388904817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388904817" } ] } ] }, { "uniprot_canonical_ac": "P05064-1", "start_pos": "257", "end_pos": "257", "site_lbl": "Leu257", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of 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"uniprot_canonical_ac": "Q62452-1", "start_pos": "168", "end_pos": "168", "site_lbl": "Arg168", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999053", "evidence": [ { "id": "rs3388488565", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388488565" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "179", "end_pos": "179", "site_lbl": "Ala179", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "G", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999087", "evidence": [ { "id": "rs13468242", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs13468242" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "191", "end_pos": "191", "site_lbl": "Leu191", 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passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999177", "evidence": [ { "id": "rs3388485365", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485365" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "221", "end_pos": "221", "site_lbl": "Phe221", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999213", "evidence": [ { "id": "rs1131866191", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1131866191" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "223", "end_pos": "223", "site_lbl": "Arg223", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999219", "evidence": [ { "id": "rs1135368249", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1135368249" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "225", "end_pos": "225", "site_lbl": "Ala225", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999225", "evidence": [ { "id": "rs3539457766", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539457766" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "229", "end_pos": "229", "site_lbl": "Ala229", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999236", "evidence": [ { "id": "rs3388485402", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485402" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "243", "end_pos": "243", "site_lbl": "Phe243", "weight": 0.0, "snv": [ { "sequence_org": "F", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999278", "evidence": [ { "id": "rs3388486210", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486210" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "248", "end_pos": "248", "site_lbl": "Ile248", "weight": 0.0, "snv": [ { "sequence_org": "I", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999293", "evidence": [ { "id": "rs3388485894", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485894" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "249", "end_pos": "249", "site_lbl": "Trp249", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "*", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999298", "evidence": [ { "id": "rs3388485447", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485447" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "251", "end_pos": "251", "site_lbl": "Leu251", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999304", "evidence": [ { "id": "rs30306415", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30306415" } ] }, { "sequence_org": "L", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999302", "evidence": [ { "id": "rs229615735", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs229615735" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "252", "end_pos": "252", "site_lbl": "Arg252", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999306", "evidence": [ { "id": "rs1134122593", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1134122593" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "271", "end_pos": "271", "site_lbl": "Gly271", "weight": 0.0, "snv": [ { "sequence_org": "G", "sequence_mut": "D", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87999363", "evidence": [ { "id": "rs3388486882", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486882" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "287", "end_pos": "287", "site_lbl": "Ala287", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "V", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142776", "evidence": [ { "id": "rs3388485785", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485785" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "294", "end_pos": "294", "site_lbl": "Glu294", "weight": 0.0, "snv": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142796", "evidence": [ { "id": "rs3539454443", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539454443" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "310", "end_pos": "310", "site_lbl": "Pro310", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142845", "evidence": [ { "id": "rs3388486862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486862" } ] }, { "sequence_org": "P", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142845", "evidence": [ { "id": "rs3388486862", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486862" } ] }, { "sequence_org": "P", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142844", "evidence": [ { "id": "rs3539457645", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539457645" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "323", "end_pos": "323", "site_lbl": "Arg323", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142884", "evidence": [ { "id": "rs3539455042", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539455042" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "327", "end_pos": "327", "site_lbl": "Thr327", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88142896", "evidence": [ { "id": "rs47208592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs47208592" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "328", "end_pos": "328", "site_lbl": "Val328", "weight": 0.0, "snv": [ { "sequence_org": "V", "sequence_mut": "F", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143517", "evidence": [ { "id": "rs3539457654", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539457654" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "338", "end_pos": "338", "site_lbl": "Ser338", "weight": 0.0, "snv": [ { "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143548", "evidence": [ { "id": "rs1133694053", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1133694053" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "346", "end_pos": "346", "site_lbl": "Leu346", "weight": 0.0, "snv": [ { "sequence_org": "L", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143571", "evidence": [ { "id": "rs3539459893", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539459893" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "349", "end_pos": "349", "site_lbl": "Trp349", "weight": 0.0, "snv": [ { "sequence_org": "W", "sequence_mut": "R", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143580", "evidence": [ { "id": "rs3388484765", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388484765" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "351", "end_pos": "351", "site_lbl": "Pro351", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143587", "evidence": [ { "id": "rs3539454069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539454069" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "358", "end_pos": "358", "site_lbl": "His358", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143862", "evidence": [ { "id": "rs3388486417", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388486417" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "35", "end_pos": "35", "site_lbl": "His35", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87998656", "evidence": [ { "id": "rs30306420", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30306420" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "366", "end_pos": "366", "site_lbl": "Thr366", "weight": 0.0, "snv": [ { "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143887", "evidence": [ { "id": "rs48157063", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48157063" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "371", "end_pos": "371", "site_lbl": "His371", "weight": 0.0, "snv": [ { "sequence_org": "H", "sequence_mut": "Y", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143901", "evidence": [ { "id": "rs46352019", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs46352019" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "382", "end_pos": "382", "site_lbl": "Pro382", "weight": 0.0, "snv": [ { "sequence_org": "P", "sequence_mut": "L", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143935", "evidence": [ { "id": "rs49604602", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49604602" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "396", "end_pos": "396", "site_lbl": "Ala396", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143976", "evidence": [ { "id": "rs48308731", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs48308731" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "398", "end_pos": "398", "site_lbl": "Arg398", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "C", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143982", "evidence": [ { "id": "rs3388485503", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388485503" } ] }, { "sequence_org": "R", "sequence_mut": "H", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143983", "evidence": [ { "id": "rs49274850", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs49274850" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "402", "end_pos": "402", "site_lbl": "Arg402", "weight": 0.0, "snv": [ { "sequence_org": "R", "sequence_mut": "P", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143995", "evidence": [ { "id": "rs3412994250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412994250" } ] }, { "sequence_org": "R", "sequence_mut": "Q", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88143995", "evidence": [ { "id": "rs3412994250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3412994250" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "41", "end_pos": "41", "site_lbl": "Met41", "weight": 0.0, "snv": [ { "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "87998673", "evidence": [ { "id": "rs30306419", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs30306419" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "421", "end_pos": "421", "site_lbl": "Ala421", "weight": 0.0, "snv": [ { "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88144051", "evidence": [ { "id": "rs3539461379", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3539461379" } ] } ] }, { "uniprot_canonical_ac": "Q62452-1", "start_pos": "432", "end_pos": "432", "site_lbl": "Lys432", "weight": 0.0, "snv": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Germline mutation passed 1 filters: glycogene of type=glycogene, glycosyltransferase.", "chr_id": "1", "chr_pos": "88145853", "evidence": [ { "id": "rs3388484939", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388484939" } ] } ] }, { 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"name": "plasma membrane bounded cell projection assembly", "id": "GO:0120031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120031", "evidence": [ { "database": "UniProtKB", "id": "Q4JIM5", "url": "https://www.uniprot.org/uniprotkb/Q4JIM5" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q4JIM5", "url": "https://www.uniprot.org/uniprotkb/Q4JIM5" } ], "pmid": "" }, { "name": "phagocytic cup", "id": "GO:0001891", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001891", "evidence": [ { "database": "UniProtKB", "id": "Q4JIM5", "url": "https://www.uniprot.org/uniprotkb/Q4JIM5" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q4JIM5", "url": "https://www.uniprot.org/uniprotkb/Q4JIM5" } ], "pmid": "" }, { "name": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0002328", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "telomeric DNA-containing double minutes formation", "id": "GO:0061819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061819", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "negative regulation of protection from non-homologous end joining at telomere", "id": "GO:1905765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905765", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "response to gamma radiation", "id": "GO:0010332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010332", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "base-excision repair", "id": "GO:0006284", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006284", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "double-strand break repair via nonhomologous end joining", "id": "GO:0006303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006303", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "positive regulation of fibroblast proliferation", "id": "GO:0048146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048146", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "T cell differentiation in thymus", "id": "GO:0033077", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033077", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "isotype switching", "id": "GO:0045190", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045190", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "response to X-ray", "id": "GO:0010165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010165", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "V(D)J recombination", "id": "GO:0033151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033151", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "positive regulation of neurogenesis", "id": "GO:0050769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050769", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "positive regulation of ligase activity", "id": "GO:0051351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051351", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "immunoglobulin V(D)J recombination", "id": "GO:0033152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033152", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "DNA double-strand break attachment to nuclear envelope", "id": "GO:1990683", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990683", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "positive regulation of phosphatidylserine exposure on apoptotic cell surface", "id": "GO:1905782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905782", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "DNA recombination", "id": "GO:0006310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006310", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" } ], "cellular_component": [ { "name": "nonhomologous end joining complex", "id": "GO:0070419", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070419", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "DNA ligase IV complex", "id": "GO:0032807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032807", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "ERCC4-ERCC1 complex", "id": "GO:0070522", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070522", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q924T3", "url": "https://www.uniprot.org/uniprotkb/Q924T3" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": 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"chr_id": "13", "chr_pos": "90149121", "evidence": [ { "id": "rs3404478346", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3404478346" } ] } ] } ], "record_id": "batch.mouse.18" }, { "uniprot_canonical_ac": "E9Q414-1", "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "length": 4505, "chemical_mass": 509432.0, "gene_names": "Apob;Apo B-100;Apob;apob-100;apob-48", "protein_name": "Apolipoprotein B-100", "disease": [ { "disease_id": "DOID:0111061", "name": "familial hypobetalipoproteinemia 2", "description": "A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31.", "url": "https://disease-ontology.org/term/DOID:0111061", "evidence": [ { "id": "0111061", 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"https://www.alliancegenome.org/disease/DOID:11981" } ], "weight": 0.0 }, { "disease_id": "DOID:12241", "name": "beta thalassemia", "description": "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin.", "url": "https://disease-ontology.org/term/DOID:12241", "evidence": [ { "id": "12241", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12241" } ], "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:13809", "name": "familial combined hyperlipidemia", "description": "", "url": "https://disease-ontology.org/term/DOID:13809", "evidence": [ { "id": "13809", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13809" } ], "weight": 0.0 }, { "disease_id": "DOID:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID:1390", "name": "hypobetalipoproteinemia", "description": "A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport 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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:3121", "name": "gallbladder cancer", "description": "A biliary tract cancer that is located_in the gallbladder.", "url": "https://disease-ontology.org/term/DOID:3121", "evidence": [ { "id": "3121", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3121" } ], "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:4606", "name": "bile duct cancer", "description": "A biliary tract cancer that is located_in the bile duct.", "url": "https://disease-ontology.org/term/DOID:4606", "evidence": [ { "id": "4606", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4606" } ], "weight": 0.0 }, { "disease_id": "DOID:4607", "name": "biliary tract cancer", "description": "A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct.", "url": "https://disease-ontology.org/term/DOID:4607", "evidence": [ { "id": "4607", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4607" } ], "weight": 0.0 }, { "disease_id": "DOID:4608", "name": "common bile duct neoplasm", "description": "", "url": "https://disease-ontology.org/term/DOID:4608", "evidence": [ { "id": "4608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4608" } ], "weight": 0.0 }, { "disease_id": "DOID:8947", "name": "diabetic retinopathy", "description": "", "url": "https://disease-ontology.org/term/DOID:8947", "evidence": [ { "id": "8947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8947" } ], "weight": 0.0 }, { "disease_id": "DOID:9351", "name": "diabetes mellitus", "description": "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.", "url": "https://disease-ontology.org/term/DOID:9351", "evidence": [ { "id": "9351", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9351" } ], "weight": 0.0 }, { "disease_id": "DOID:9352", "name": "type 2 diabetes mellitus", "description": "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin.", "url": "https://disease-ontology.org/term/DOID:9352", "evidence": [ { "id": "9352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID:9744", "name": "type 1 diabetes mellitus", "description": "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production.", "url": "https://disease-ontology.org/term/DOID:9744", "evidence": [ { "id": "9744", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9744" } ], "weight": 0.0 }, { "disease_id": "DOID: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": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "spermatogenesis", "id": "GO:0007283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007283", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "cholesterol metabolic process", "id": "GO:0008203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008203", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "fertilization", "id": "GO:0009566", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009566", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "lipoprotein metabolic process", "id": "GO:0042157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042157", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "lipoprotein biosynthetic process", "id": "GO:0042158", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042158", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "lipoprotein transport", "id": "GO:0042953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042953", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "cellular response to amyloid-beta", "id": "GO:1904646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904646", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": "https://www.uniprot.org/uniprotkb/E9Q414" } ], "pmid": "" }, { "name": "positive regulation of lipid storage", "id": "GO:0010884", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010884", "evidence": [ { "database": "UniProtKB", "id": "E9Q414", "url": 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"chemical_mass": 46998.0, "gene_names": "Adrb2;Adrb-2;Adrb2r;Adrb2;Badm;Gpcr7", "protein_name": "Beta-2 adrenergic receptor", "disease": [ { "disease_id": "DOID:0014667", "name": "disease of metabolism", "description": "A disease that involves errors in metabolic processes of building or degradation of molecules.", "url": "https://disease-ontology.org/term/DOID:0014667", "evidence": [ { "id": "0014667", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0014667" } ], "weight": 0.0 }, { "disease_id": "DOID:0080815", "name": "childhood-onset asthma", "description": "A chronic asthma that is characterized by first presentation in early childhood.", "url": "https://disease-ontology.org/term/DOID:0080815", "evidence": [ { "id": "0080815", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080815" } ], "weight": 0.0 }, { "disease_id": "DOID:1067", "name": "open-angle glaucoma", "description": "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage.", "url": "https://disease-ontology.org/term/DOID:1067", "evidence": [ { "id": "1067", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1067" } ], "weight": 0.0 }, { "disease_id": "DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure.", "url": "https://disease-ontology.org/term/DOID:1070", "evidence": [ { "id": "1070", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ], "weight": 0.0 }, { "disease_id": "DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries.", "url": "https://disease-ontology.org/term/DOID:10763", "evidence": [ { "id": "10763", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ], "weight": 0.0 }, { "disease_id": "DOID:11396", "name": "pulmonary edema", "description": "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure.", "url": "https://disease-ontology.org/term/DOID:11396", "evidence": [ { "id": "11396", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11396" } ], "weight": 0.0 }, { "disease_id": "DOID:11612", "name": "polycystic ovary syndrome", "description": "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight.", "url": "https://disease-ontology.org/term/DOID:11612", "evidence": [ { "id": "11612", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11612" } ], "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:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently.", "url": "https://disease-ontology.org/term/DOID:12930", "evidence": [ { "id": "12930", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ], "weight": 0.0 }, { "disease_id": "DOID:13810", "name": "familial hypercholesterolemia", "description": "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.", "url": "https://disease-ontology.org/term/DOID:13810", "evidence": [ { "id": "13810", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13810" } ], "weight": 0.0 }, { "disease_id": "DOID:13949", "name": "interstitial cystitis", "description": "", "url": "https://disease-ontology.org/term/DOID:13949", "evidence": [ { "id": "13949", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13949" } ], "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:1459", "name": "hypothyroidism", "description": "A thyroid gland disease which involves an underproduction of thyroid hormone.", "url": "https://disease-ontology.org/term/DOID:1459", "evidence": [ { "id": "1459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1459" } ], "weight": 0.0 }, { "disease_id": "DOID:1485", "name": "cystic fibrosis", "description": "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs.", "url": "https://disease-ontology.org/term/DOID:1485", "evidence": [ { "id": "1485", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1485" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:2942", "name": "bronchiolitis", "description": "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen.", "url": "https://disease-ontology.org/term/DOID:2942", "evidence": [ { "id": "2942", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2942" } ], "weight": 0.0 }, { "disease_id": "DOID:3021", "name": "acute kidney failure", "description": "", "url": "https://disease-ontology.org/term/DOID:3021", "evidence": [ { "id": "3021", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ], "weight": 0.0 }, { "disease_id": "DOID: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:437", "name": "myasthenia gravis", "description": "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath.", "url": "https://disease-ontology.org/term/DOID:437", "evidence": [ { "id": "437", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:437" } ], "weight": 0.0 }, { "disease_id": "DOID:4947", "name": "cholangiocarcinoma", "description": "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells.", "url": "https://disease-ontology.org/term/DOID:4947", "evidence": [ { "id": "4947", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4947" } ], "weight": 0.0 }, { "disease_id": "DOID:552", "name": "pneumonia", "description": "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.", "url": "https://disease-ontology.org/term/DOID:552", "evidence": [ { "id": "552", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:552" } ], "weight": 0.0 }, { "disease_id": "DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney.", "url": "https://disease-ontology.org/term/DOID:557", "evidence": [ { "id": "557", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:557" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID: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:820", "name": "myocarditis", "description": "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle.", "url": "https://disease-ontology.org/term/DOID:820", "evidence": [ { "id": "820", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:820" } ], "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:8893", "name": "psoriasis", "description": "A skin disease that is characterized by patches of thick red skin and silvery scales.", "url": "https://disease-ontology.org/term/DOID:8893", "evidence": [ { "id": "8893", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8893" } ], "weight": 0.0 }, { "disease_id": "DOID:9452", "name": "steatotic liver disease", "description": "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes.", "url": "https://disease-ontology.org/term/DOID:9452", "evidence": [ { "id": "9452", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9452" } ], "weight": 0.0 }, { "disease_id": "DOID: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 } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "neuronal dense core vesicle", "id": "GO:0098992", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098992", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "receptor complex", "id": "GO:0043235", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "microtubule cytoskeleton", "id": "GO:0015630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015630", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "intercellular bridge", "id": "GO:0045171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045171", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "caveola", "id": "GO:0005901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005901", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "neuronal cell body membrane", "id": "GO:0032809", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032809", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "presynapse", "id": "GO:0098793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": "https://www.uniprot.org/uniprotkb/P18762" } ], "pmid": "" }, { "name": "mitotic spindle", "id": "GO:0072686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072686", "evidence": [ { "database": "UniProtKB", "id": "P18762", "url": 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