[ { "uniprot_canonical_ac": "P42345-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "length": 2549, "chemical_mass": 288892.0, "gene_names": "MTOR;FRAP1;FRAP2;FRAP;MTOR;RAFT1;RAPT1;SKS", "protein_name": "Serine/threonine-protein kinase mTOR", "disease": [ { "disease_id": "DOID:0070658", "name": "alcohol-associated liver disease", "description": "A liver disease resulting from excessive alcohol intake.", "url": "https://disease-ontology.org/term/DOID:0070658", "evidence": [ { "id": "0070658", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070658" } ], "weight": 0.0 }, { "disease_id": "DOID:0080322", "name": "polycystic kidney disease", "description": "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure.", "url": "https://disease-ontology.org/term/DOID:0080322", "evidence": [ { "id": "0080322", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080322" } ], "weight": 0.0 }, { "disease_id": "DOID:0081449", "name": "cone-rod dystrophy 24", "description": "A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.", "url": "https://disease-ontology.org/term/DOID:0081449", "evidence": [ { "id": "0081449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081449" }, { "id": "0081449", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081449" } ], "weight": 0.0 }, { "disease_id": "DOID:0110861", "name": "autosomal recessive polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion.", "url": "https://disease-ontology.org/term/DOID:0110861", "evidence": [ { "id": "0110861", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110861" } ], "weight": 0.0 }, { "disease_id": "DOID:0111987", "name": "immunodeficiency 13", "description": "A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2.", "url": "https://disease-ontology.org/term/DOID:0111987", "evidence": [ { "id": "0111987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111987" }, { "id": "0111987", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111987" } ], "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:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "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:11446", "name": "sciatic neuropathy", "description": "", "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:13139", "name": "crescentic glomerulonephritis", "description": "", "url": "https://disease-ontology.org/term/DOID:13139", "evidence": [ { "id": "13139", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13139" } ], "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: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:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:219", "name": "colon cancer", "description": "A colorectal cancer that is located_in the colon.", "url": "https://disease-ontology.org/term/DOID:219", "evidence": [ { "id": "219", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:219" } ], "weight": 0.0 }, { "disease_id": "DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2797", "name": "idiopathic interstitial pneumonia", "description": "A pneumonia located_in the lung parenchyma of unknown cause.", "url": "https://disease-ontology.org/term/DOID:2797", "evidence": [ { "id": "2797", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2797" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is 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 }, { "disease_id": "DOID:3371", "name": "chondrosarcoma", "description": "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage.", "url": "https://disease-ontology.org/term/DOID:3371", "evidence": [ { "id": "3371", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3371" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.", "url": "https://disease-ontology.org/term/DOID:5419", "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ], "weight": 0.0 }, { "disease_id": "DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia.", "url": "https://disease-ontology.org/term/DOID:5844", "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ], "weight": 0.0 }, { "disease_id": "DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body.", "url": "https://disease-ontology.org/term/DOID:6000", "evidence": [ { "id": "6000", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:767", "name": "muscular atrophy", "description": "", "url": "https://disease-ontology.org/term/DOID:767", "evidence": [ { "id": "767", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:767" } ], "weight": 0.0 }, { "disease_id": "DOID:783", "name": "end stage renal disease", "description": "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease.", "url": "https://disease-ontology.org/term/DOID:783", "evidence": [ { "id": "783", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:783" } ], "weight": 0.0 }, { "disease_id": "DOID:8411", "name": "kidney angiomyolipoma", "description": "", "url": "https://disease-ontology.org/term/DOID:8411", "evidence": [ { "id": "8411", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8411" } ], "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:898", "name": "autosomal dominant polycystic kidney disease", "description": "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion.", "url": "https://disease-ontology.org/term/DOID:898", "evidence": [ { "id": "898", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:898" } ], "weight": 0.0 }, { "disease_id": "DOID: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 }, { "disease_id": "MONDO:0011818", "name": "isolated focal cortical dysplasia type II", "description": "", "url": "https://monarchinitiative.org/disease/MONDO:0011818", "evidence": [ { "id": "607341", "database": "MIM", "url": "https://www.omim.org/entry/607341" } ], "weight": 0.0 }, { "disease_id": "MONDO:0014716", "name": "macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome", "description": "A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and caf-au-lait spots, among others.", "url": "https://monarchinitiative.org/disease/MONDO:0014716", "evidence": [ { "id": "616638", "database": "MIM", "url": "https://www.omim.org/entry/616638" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of locomotor rhythm", "id": "GO:1904059", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904059", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "cardiac cell development", "id": "GO:0055006", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055006", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "negative regulation of insulin receptor signaling pathway", "id": "GO:0046627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046627", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "cellular response to nutrient", "id": "GO:0031670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031670", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "T-helper 1 cell lineage commitment", "id": "GO:0002296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002296", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "protein phosphorylation", "id": "GO:0006468", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006468", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "inflammatory response", "id": "GO:0006954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006954", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "neuronal action potential", "id": "GO:0019228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019228", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "positive regulation of cell growth", "id": "GO:0030307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030307", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "cellular response to insulin stimulus", "id": "GO:0032869", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032869", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "regulation of actin cytoskeleton organization", "id": "GO:0032956", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032956", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "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": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "regulation of cellular response to heat", "id": "GO:1900034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900034", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "negative regulation of protein localization to nucleus", "id": "GO:1900181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900181", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "regulation of macroautophagy", "id": "GO:0016241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016241", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "T cell costimulation", "id": "GO:0031295", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031295", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "response to nutrient levels", "id": "GO:0031667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031667", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "positive regulation of protein kinase activity", "id": "GO:0045860", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045860", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "positive regulation of lipid biosynthetic process", "id": "GO:0046889", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046889", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "regulation of signal transduction by p53 class mediator", "id": "GO:1901796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901796", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte migration", "id": "GO:0051549", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051549", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "regulation of cell growth", "id": "GO:0001558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001558", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "regulation of circadian rhythm", "id": "GO:0042752", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042752", "evidence": [ { "database": "UniProtKB", "id": "P42345", "url": "https://www.uniprot.org/uniprotkb/P42345" } ], "pmid": "" }, { "name": "positive regulation of glycolytic process", "id": 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population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": 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"https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of catalytic activity", "id": "GO:0043086", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043086", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "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": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "homeostasis of number of cells within a tissue", "id": "GO:0048873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048873", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "cellular response to hypoxia", "id": "GO:0071456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071456", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "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": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of BMP signaling pathway", "id": "GO:0030514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030514", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "cardiac muscle tissue morphogenesis", "id": "GO:0055008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055008", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "cilium assembly", "id": "GO:0060271", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of glial cell proliferation", "id": "GO:0060253", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060253", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "endocardial cushion morphogenesis", "id": "GO:0003203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003203", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "positive regulation of BMP signaling pathway", "id": "GO:0030513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030513", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "positive regulation of endothelial cell differentiation", "id": "GO:0045603", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045603", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "glomerular mesangial cell development", "id": "GO:0072144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072144", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "determination of left/right symmetry", "id": "GO:0007368", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007368", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "animal organ regeneration", "id": "GO:0031100", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031100", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "tissue regeneration", "id": "GO:0042246", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042246", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "atrioventricular valve morphogenesis", "id": "GO:0003181", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003181", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "ventricular septum morphogenesis", "id": "GO:0060412", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060412", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition", "id": "GO:0001837", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001837", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "left/right axis specification", "id": "GO:0070986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070986", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of cell adhesion molecule production", "id": "GO:0060354", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060354", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "protein catabolic process", "id": "GO:0030163", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "cellular response to vascular endothelial growth factor stimulus", "id": "GO:0035924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035924", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "cardiac epithelial to mesenchymal transition", "id": "GO:0060317", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060317", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "chemical synaptic transmission, postsynaptic", "id": "GO:0099565", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099565", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "distal tubule development", "id": "GO:0072017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072017", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "collecting duct development", "id": "GO:0072044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072044", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of cardiac muscle cell apoptotic process", "id": "GO:0010667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010667", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of cell-substrate adhesion", "id": "GO:0010812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010812", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of neurogenesis", "id": "GO:0050768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050768", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "regulation of extracellular matrix assembly", "id": "GO:1901201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901201", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of myotube differentiation", "id": "GO:0010832", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010832", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of myoblast differentiation", "id": "GO:0045662", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045662", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "cardiac muscle cell proliferation", "id": "GO:0060038", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060038", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "coronary artery morphogenesis", "id": "GO:0060982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060982", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "positive regulation of neuroblast proliferation", "id": "GO:0002052", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002052", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "outflow tract morphogenesis", "id": "GO:0003151", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003151", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "neuronal stem cell population maintenance", "id": "GO:0097150", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097150", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "tube formation", "id": "GO:0035148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035148", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "luteolysis", "id": "GO:0001554", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001554", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "positive regulation of viral genome replication", "id": "GO:0045070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045070", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "epithelial to mesenchymal transition involved in endocardial cushion formation", "id": "GO:0003198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003198", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "cell migration involved in endocardial cushion formation", "id": "GO:0003273", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003273", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "cellular response to follicle-stimulating hormone stimulus", "id": "GO:0071372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071372", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "mesenchymal cell development", "id": "GO:0014031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014031", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of ossification", "id": "GO:0030279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030279", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of anoikis", "id": "GO:2000811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000811", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "pericardium morphogenesis", "id": "GO:0003344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003344", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "oligodendrocyte differentiation", "id": "GO:0048709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048709", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "cardiac septum morphogenesis", "id": "GO:0060411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060411", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "heart trabecula morphogenesis", "id": "GO:0061384", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061384", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "aortic valve morphogenesis", "id": "GO:0003180", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003180", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "pulmonary valve morphogenesis", "id": "GO:0003184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003184", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "ventricular trabecula myocardium morphogenesis", "id": "GO:0003222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003222", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of collagen biosynthetic process", "id": "GO:0032966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032966", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "positive regulation of astrocyte differentiation", "id": "GO:0048711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048711", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "positive regulation of cardiac muscle cell proliferation", "id": "GO:0060045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060045", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "regulation of cell adhesion involved in heart morphogenesis", "id": "GO:0061344", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061344", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of cell proliferation involved in heart valve morphogenesis", "id": "GO:0003252", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003252", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "cardiac atrium morphogenesis", "id": "GO:0003209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003209", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "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": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "cardiac left ventricle morphogenesis", "id": "GO:0003214", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003214", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "response to muramyl dipeptide", "id": "GO:0032495", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032495", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of stem cell differentiation", "id": "GO:2000737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000737", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "negative regulation of oligodendrocyte differentiation", "id": "GO:0048715", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048715", "evidence": [ { "database": 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"https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "atrioventricular node development", "id": "GO:0003162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003162", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "growth involved in heart morphogenesis", "id": "GO:0003241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003241", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "positive regulation of smooth muscle cell differentiation", "id": "GO:0051152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051152", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "endocardium development", "id": "GO:0003157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003157", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "endocardium morphogenesis", "id": "GO:0003160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003160", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "coronary vein morphogenesis", "id": "GO:0003169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003169", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "cardiac chamber formation", "id": "GO:0003207", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003207", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "cardiac right atrium morphogenesis", "id": "GO:0003213", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003213", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": 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"" }, { "name": "late endosome membrane", "id": "GO:0031902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031902", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "acrosomal vesicle", "id": "GO:0001669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001669", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "postsynaptic density membrane", "id": "GO:0098839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098839", "evidence": [ { "database": "UniProtKB", "id": "P46531", "url": "https://www.uniprot.org/uniprotkb/P46531" } ], "pmid": "" }, { "name": "MAML1-RBP-Jkappa- ICN1 complex", 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"" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P51532", "url": "https://www.uniprot.org/uniprotkb/P51532" } ], "pmid": "" }, { "name": "transcription corepressor activity", "id": "GO:0003714", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003714", "evidence": [ { "database": "UniProtKB", "id": "P51532", "url": "https://www.uniprot.org/uniprotkb/P51532" } ], "pmid": "" }, { "name": "ATP hydrolysis activity", "id": "GO:0016887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016887", "evidence": [ { "database": "UniProtKB", "id": "P51532", "url": "https://www.uniprot.org/uniprotkb/P51532" } ], "pmid": "" }, { "name": "DNA polymerase binding", "id": "GO:0070182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070182", "evidence": [ { "database": "UniProtKB", "id": "P51532", "url": "https://www.uniprot.org/uniprotkb/P51532" } ], "pmid": "" }, { "name": "Tat protein 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The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.", "url": "https://disease-ontology.org/term/DOID:0060041", "evidence": [ { "id": "0060041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060041" } ], "weight": 0.0 }, { "disease_id": "DOID:0060389", "name": "chromosome 10q23 deletion syndrome", "description": "A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2.", "url": "https://disease-ontology.org/term/DOID:0060389", "evidence": [ { "id": "612242", "database": "MIM", "url": "https://www.omim.org/entry/612242" }, { "id": "0060389", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060389" } ], "weight": 0.0 }, { "disease_id": 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"https://www.alliancegenome.org/disease/DOID:0060867" } ], "weight": 0.0 }, { "disease_id": "DOID:0080072", "name": "intestinal pseudo-obstruction", "description": "A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract.", "url": "https://disease-ontology.org/term/DOID:0080072", "evidence": [ { "id": "0080072", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080072" } ], "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:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ], "weight": 0.0 }, { "disease_id": "DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.", "url": "https://disease-ontology.org/term/DOID:10584", "evidence": [ { "id": "10584", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ], "weight": 0.0 }, { "disease_id": "DOID:10762", "name": "portal hypertension", "description": "", "url": "https://disease-ontology.org/term/DOID:10762", "evidence": [ { "id": "10762", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10762" } ], "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:1192", "name": "peripheral nervous system neoplasm", "description": "A nervous system cancer that is located in the peripheral nervous system.", "url": "https://disease-ontology.org/term/DOID:1192", "evidence": [ { "id": "1192", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1192" } ], "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:13042", "name": "persistent fetal circulation syndrome", "description": "", "url": "https://disease-ontology.org/term/DOID:13042", "evidence": [ { "id": "13042", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13042" } ], "weight": 0.0 }, { "disease_id": "DOID:13608", "name": "biliary atresia", "description": "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.", "url": "https://disease-ontology.org/term/DOID:13608", "evidence": [ { "id": "13608", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:13608" } ], "weight": 0.0 }, { "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: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: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" } ], 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"DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death.", "url": "https://disease-ontology.org/term/DOID:224", "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID:264", "name": "hemangiopericytoma", "description": "A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries.", "url": "https://disease-ontology.org/term/DOID:264", "evidence": [ { "id": "264", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:264" } ], "weight": 0.0 }, { "disease_id": "DOID:2938", "name": "Epstein-Barr virus infectious disease", "description": "A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4 (Lymphocryptovirus humangamma4).", "url": "https://disease-ontology.org/term/DOID:2938", "evidence": [ { "id": "2938", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2938" } ], "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: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:3314", "name": "angiomyolipoma", "description": "A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells.", "url": "https://disease-ontology.org/term/DOID:3314", "evidence": [ { "id": "3314", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3314" } ], "weight": 0.0 }, { "disease_id": "DOID:3742", "name": "bladder squamous cell carcinoma", "description": "A carcinoma of bladder that is manifested in squamous cells of the bladder.", "url": "https://disease-ontology.org/term/DOID:3742", "evidence": [ { "id": "3742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3742" } ], "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:3962", "name": "follicular thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells.", "url": "https://disease-ontology.org/term/DOID:3962", "evidence": [ { "id": "3962", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3962" } ], "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:4586", "name": "familial meningioma", "description": "", "url": "https://disease-ontology.org/term/DOID:4586", "evidence": [ { "id": "4586", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4586" }, { "id": "4586", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4586" }, { "id": "4586", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4586" } ], "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:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus.", "url": "https://disease-ontology.org/term/DOID:5041", "evidence": [ { "id": "5041", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5041" } ], "weight": 0.0 }, { "disease_id": "DOID:5520", "name": "head and neck squamous cell carcinoma", "description": "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck.", "url": "https://disease-ontology.org/term/DOID:5520", "evidence": [ { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" }, { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" }, { "id": "5520", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5520" } ], "weight": 0.0 }, { "disease_id": "DOID:6457", "name": "Cowden syndrome", "description": "A hamartoma syndrome characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium.", "url": "https://disease-ontology.org/term/DOID:6457", "evidence": [ { "id": "158350", "database": "MIM", "url": "https://www.omim.org/entry/158350" }, { "id": "6457", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6457" } ], "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:76", "name": "stomach disease", "description": "A gastrointestinal system disease that is located_in the stomach.", "url": "https://disease-ontology.org/term/DOID:76", "evidence": [ { "id": "76", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:76" } ], "weight": 0.0 }, { "disease_id": "DOID:8029", "name": "sporadic breast cancer", "description": "A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer.", "url": "https://disease-ontology.org/term/DOID:8029", "evidence": [ { "id": "8029", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8029" } ], "weight": 0.0 }, { "disease_id": "DOID:8719", "name": "in situ carcinoma", "description": "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues.", "url": "https://disease-ontology.org/term/DOID:8719", "evidence": [ { "id": "8719", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8719" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID: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:936", "name": "brain disease", "description": "A central nervous system disease that is located_in the brain.", "url": "https://disease-ontology.org/term/DOID:936", "evidence": [ { "id": "936", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:936" } ], "weight": 0.0 }, { "disease_id": "DOID:9408", "name": "acute myocardial infarction", "description": "", "url": "https://disease-ontology.org/term/DOID:9408", "evidence": [ { "id": "9408", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9408" } ], "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:9952", "name": "acute lymphoblastic leukemia", "description": "A acute leukemia that is characterized by over production of lymphoblasts.", "url": "https://disease-ontology.org/term/DOID:9952", "evidence": [ { "id": "9952", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9952" } ], "weight": 0.0 }, { "disease_id": "MONDO:0013092", "name": "glioma susceptibility 2", "description": "Any malignant glioma in which the cause of the disease is a mutation in the PTEN gene.", "url": "https://monarchinitiative.org/disease/MONDO:0013092", "evidence": [ { "id": "613028", "database": "MIM", "url": "https://www.omim.org/entry/613028" } ], "weight": 0.0 } ], "biological_process": [ { "name": "regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051896", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of wound healing, spreading of epidermal cells", "id": "GO:1903690", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903690", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "rhythmic synaptic transmission", "id": "GO:0060024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060024", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "postsynaptic density assembly", "id": "GO:0097107", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097107", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of synaptic vesicle clustering", "id": "GO:2000808", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000808", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of organ growth", "id": "GO:0046621", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046621", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "heart development", "id": "GO:0007507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007507", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "locomotory behavior", "id": "GO:0007626", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007626", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "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": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of cell population proliferation", "id": "GO:0008285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008285", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "cell migration", "id": "GO:0016477", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "adult behavior", "id": "GO:0030534", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030534", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "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": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "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": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "prepulse inhibition", "id": "GO:0060134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060134", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "central nervous system development", "id": "GO:0007417", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007417", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "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": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of cellular senescence", "id": "GO:2000773", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000773", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "social behavior", "id": "GO:0035176", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035176", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "protein dephosphorylation", "id": "GO:0006470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006470", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of focal adhesion assembly", "id": "GO:0051895", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051895", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "phosphatidylinositol biosynthetic process", "id": "GO:0006661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006661", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "locomotor rhythm", "id": "GO:0045475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045475", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of cell size", "id": "GO:0045792", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045792", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "regulation of neuron projection development", "id": "GO:0010975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010975", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0043491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043491", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "cell motility", "id": "GO:0048870", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048870", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of osteoblast differentiation", "id": "GO:0045668", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045668", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction", "id": "GO:0051898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051898", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "dendritic spine morphogenesis", "id": "GO:0060997", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060997", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "neuron-neuron synaptic transmission", "id": "GO:0007270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007270", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of axonogenesis", "id": "GO:0050771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050771", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of peptidyl-serine phosphorylation", "id": "GO:0033137", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033137", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "phosphatidylinositol dephosphorylation", "id": "GO:0046856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046856", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "cellular response to electrical stimulus", "id": "GO:0071257", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071257", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of keratinocyte migration", "id": "GO:0051548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051548", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "central nervous system neuron axonogenesis", "id": "GO:0021955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021955", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "forebrain morphogenesis", "id": "GO:0048853", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048853", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "positive regulation of intracellular signal transduction", "id": "GO:1902533", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902533", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "dentate gyrus development", "id": "GO:0021542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021542", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "maternal behavior", "id": "GO:0042711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042711", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "positive regulation of ubiquitin-dependent protein catabolic process", "id": "GO:2000060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000060", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "synapse maturation", "id": "GO:0060074", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060074", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of epithelial to mesenchymal transition", "id": "GO:0010719", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010719", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of cell cycle G1/S phase transition", "id": "GO:1902807", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902807", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of excitatory postsynaptic potential", "id": "GO:0090394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090394", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of vascular associated smooth muscle cell proliferation", "id": "GO:1904706", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904706", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "central nervous system myelin maintenance", "id": "GO:0032286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032286", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "spindle assembly involved in female meiosis", "id": "GO:0007056", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007056", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "presynaptic membrane assembly", "id": "GO:0097105", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097105", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "multicellular organismal response to stress", "id": "GO:0033555", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0033555", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "positive regulation of macromolecule metabolic process", "id": "GO:0010604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010604", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "regulation of cell cycle", "id": "GO:0051726", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051726", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of signaling", "id": "GO:0023057", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0023057", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of developmental process", "id": "GO:0051093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051093", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of multicellular organismal process", "id": "GO:0051241", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051241", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of cell communication", "id": "GO:0010648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010648", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "negative regulation of cellular component organization", "id": "GO:0051129", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051129", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "regulation of developmental process", "id": "GO:0050793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050793", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" } ], "molecular_function": [ { "name": "phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity", "id": "GO:0016314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016314", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity", "id": "GO:0051800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051800", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "protein serine/threonine phosphatase activity", "id": "GO:0004722", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004722", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "PDZ domain binding", "id": "GO:0030165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030165", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "ubiquitin-specific protease binding", "id": "GO:1990381", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990381", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "phosphoprotein phosphatase activity", "id": "GO:0004721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004721", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "phosphatidylinositol-3-phosphate phosphatase activity", "id": "GO:0004438", 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"" }, { "name": "hydrolase activity", "id": "GO:0016787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016787", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", 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Unable to inhibit focal adhesion formation.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "9616126", "url": "https://glygen.org/publication/PubMed/9616126" } ] } ] }, { "uniprot_canonical_ac": "P60484-1", "start_pos": "125", "end_pos": "125", "site_lbl": "Lys125", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "Reduced phosphatase activity towards PtdIns(3,4,5)P3, PtdIns(3,4)P2 and PtdIns(3)P.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "10555148", "url": "https://glygen.org/publication/PubMed/10555148" } ] } ] }, { "uniprot_canonical_ac": "P60484-1", "start_pos": "126", "end_pos": "126", "site_lbl": "Ala126", "weight": 0.0, "mutagenesis": [ { "sequence_org": "A", "sequence_mut": "P", "comment": "Does not reduce phosphatase activity towards PtdIns(3,4,5)P3 and PtdIns(3,4)P2.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "26504226", "url": "https://glygen.org/publication/PubMed/26504226" } ] }, { "sequence_org": "A", "sequence_mut": "S", "comment": "Does not reduce phosphatase activity towards PtdIns(3,4,5)P3 and PtdIns(3,4)P2.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "26504226", "url": "https://glygen.org/publication/PubMed/26504226" } ] }, { "sequence_org": "A", "sequence_mut": "V", "comment": "Does not reduce phosphatase activity towards PtdIns(3,4,5)P3 and PtdIns(3,4)P2.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "26504226", "url": "https://glygen.org/publication/PubMed/26504226" } ] } ] }, { "uniprot_canonical_ac": "P60484-1", "start_pos": "128", "end_pos": "128", "site_lbl": "Lys128", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "M", "comment": "85% reduction in phosphatase activity towards PtdIns(3,4,5)P3.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "10555148", "url": "https://glygen.org/publication/PubMed/10555148" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Does not reduce phosphatase activity towards PtdIns(3,4,5)P3.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "10555148", "url": "https://glygen.org/publication/PubMed/10555148" } ] } ] }, { "uniprot_canonical_ac": "P60484-1", "start_pos": "130", "end_pos": "130", "site_lbl": "Arg130", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "M", "comment": "Does not affect the ability to inhibit AKT/PKB activation.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "9811831", "url": "https://glygen.org/publication/PubMed/9811831" } ] } ] }, { "uniprot_canonical_ac": "P60484-1", "start_pos": "13", "end_pos": "13", "site_lbl": "Lys13", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Nuclear. Cytoplasmic; when associated with E-289. Shows less tumor suppressive ability; when associated with E-289.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "18716620", "url": "https://glygen.org/publication/PubMed/18716620" } ] } ] }, { "uniprot_canonical_ac": "P60484-1", "start_pos": "167", "end_pos": "167", "site_lbl": "Thr167", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "A", "comment": "60% reduction in phosphatase activity towards PtdIns(3,4,5)P3.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "10555148", "url": "https://glygen.org/publication/PubMed/10555148" } ] }, { "sequence_org": "T", "sequence_mut": "D", "comment": "60% reduction in phosphatase activity towards PtdIns(3,4,5)P3.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "10555148", "url": "https://glygen.org/publication/PubMed/10555148" } ] } ] }, { "uniprot_canonical_ac": "P60484-1", "start_pos": "171", "end_pos": "171", "site_lbl": "Gln171", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Q", "sequence_mut": "A", "comment": "75% reduction in phosphatase activity towards PtdIns(3,4,5)P3.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "10555148", "url": "https://glygen.org/publication/PubMed/10555148" } ] }, { "sequence_org": "Q", "sequence_mut": "E", "comment": "75% reduction in phosphatase activity towards PtdIns(3,4,5)P3.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "10555148", "url": "https://glygen.org/publication/PubMed/10555148" } ] } ] }, { "uniprot_canonical_ac": "P60484-1", "start_pos": "1", "end_pos": "1", "site_lbl": "Met1", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "I", "comment": "Prevents expression of isoform 1 and increased expression of isoform alpha.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "24768297", "url": "https://glygen.org/publication/PubMed/24768297" } ] } ] }, { "uniprot_canonical_ac": "P60484-1", "start_pos": "289", "end_pos": "289", "site_lbl": "Lys289", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "E", "comment": "Cytoplasmic; when associated with E-13. 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Decrease of protein stability.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" } ] } ] }, { "uniprot_canonical_ac": "P60484-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Val403", "weight": 0.0, "mutagenesis": [ { "sequence_org": "V", "sequence_mut": "A", "comment": "Loss of DLG1-, MAGI2-, MAGI3-, MAST1-, MAST2- and MAST3-binding.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "15951562", "url": "https://glygen.org/publication/PubMed/15951562" } ] } ] }, { "uniprot_canonical_ac": "P60484-1", "start_pos": "92", "end_pos": "92", "site_lbl": "Asp92", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "700-fold reduction in phosphatase activity towards PtdIns(3,4,5)P3. Loss of protein phosphatase activity. Unable to inhibit focal adhesion formation.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "9616126", "url": "https://glygen.org/publication/PubMed/9616126" }, { "database": "PubMed", "id": "10555148", "url": "https://glygen.org/publication/PubMed/10555148" } ] } ] }, { "uniprot_canonical_ac": "P60484-1", "start_pos": "93", "end_pos": "93", "site_lbl": "His93", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "A", "comment": "75% reduction in phosphatase activity towards PtdIns(3,4,5)P3. Modest reduction in phosphatase activity towards PtdIns(3,4)P2.", "evidence": [ { "database": "UniProtKB", "id": "P60484", "url": "https://www.uniprot.org/uniprotkb/P60484" }, { "database": "PubMed", "id": "10555148", "url": "https://glygen.org/publication/PubMed/10555148" } ] } ] } ], "record_id": "batch.P60484-1" }, { "uniprot_canonical_ac": "P68431-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P68431", "url": "https://www.uniprot.org/uniprotkb/P68431" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "length": 136, "chemical_mass": 15404.0, "gene_names": "H3C10;H3C11;H3C12;H3C1;H3C2;H3C3;H3C4;H3C6;H3C7;H3C8;H3/A;H3C1;H3FA;H3FB;H3FC HIST1H3C;H3FD;H3FF;H3FH;H3FI;H3FJ;H3FK;H3FL;HIST1H3A;HIST1H3B;HIST1H3D;HIST1H3E;HIST1H3F;HIST1H3G;HIST1H3H;HIST1H3I;HIST1H3J", "protein_name": "Histone H3.1", "disease": [ { "disease_id": "DOID:3070", "name": "high grade glioma", "description": 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"https://www.uniprot.org/uniprotkb/P68431" } ], "pmid": "" }, { "name": "epigenetic regulation of gene expression", "id": "GO:0040029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0040029", "evidence": [ { "database": "UniProtKB", "id": "P68431", "url": "https://www.uniprot.org/uniprotkb/P68431" } ], "pmid": "" }, { "name": "heterochromatin formation", "id": "GO:0031507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031507", "evidence": [ { "database": "UniProtKB", "id": "P68431", "url": "https://www.uniprot.org/uniprotkb/P68431" } ], "pmid": "" } ], "cellular_component": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P68431", "url": "https://www.uniprot.org/uniprotkb/P68431" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P68431", "url": "https://www.uniprot.org/uniprotkb/P68431" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P68431", "url": "https://www.uniprot.org/uniprotkb/P68431" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P68431", "url": "https://www.uniprot.org/uniprotkb/P68431" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P68431", "url": "https://www.uniprot.org/uniprotkb/P68431" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "P68431", "url": "https://www.uniprot.org/uniprotkb/P68431" } ], "pmid": "" }, { 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constituent of chromatin", "id": "GO:0030527", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030527", "evidence": [ { "database": "UniProtKB", "id": "P68431", "url": "https://www.uniprot.org/uniprotkb/P68431" } ], "pmid": "" } ], "binding_glycans": [], "biomarkers": [], "sites": [ { "uniprot_canonical_ac": "P68431-1", "start_pos": "11", "end_pos": "11", "site_lbl": "Ser11", "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": 11, "start_aa": "Ser", "end_pos": 11, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser11", "evidence": [ { "id": "36357422", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/36357422" }, { "id": "P68431", "database": "O-GlcNAc Database", "url": 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"https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" } ], "cellular_component": [ { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "early endosome", "id": "GO:0005769", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005769", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "basolateral plasma membrane", "id": "GO:0016323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016323", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "postsynaptic membrane", "id": "GO:0045211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045211", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "intercalated disc", "id": "GO:0014704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014704", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "M band", "id": "GO:0031430", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031430", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "costamere", "id": "GO:0043034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043034", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "A band", "id": "GO:0031672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031672", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" } ], "biological_process": [ { "name": "endocytosis", "id": "GO:0006897", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006897", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "protein localization to 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"protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "regulation of ventricular cardiac muscle cell membrane repolarization", "id": "GO:0060307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060307", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "regulation of cardiac muscle contraction", "id": "GO:0055117", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055117", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "regulation of heart rate", "id": "GO:0002027", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002027", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "pmid": "" }, { "name": "atrial septum development", "id": "GO:0003283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003283", "evidence": [ { "database": "UniProtKB", "id": "Q01484", "url": "https://www.uniprot.org/uniprotkb/Q01484" } ], "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": "Q01484", "url": 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located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9538", "name": "multiple myeloma", "description": "A myeloid neoplasm that is located_in the plasma cells in bone marrow.", "url": "https://disease-ontology.org/term/DOID:9538", "evidence": [ { "id": "9538", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9538" } ], "weight": 0.0 }, { "disease_id": "DOID: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 Ras protein signal transduction", "id": "GO:0046579", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046579", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "cellular response to tumor cell", "id": "GO:0071228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071228", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "Notch signaling pathway", "id": "GO:0007219", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007219", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "intracellular signal transduction", "id": "GO:0035556", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035556", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "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": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "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": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "bone remodeling", "id": "GO:0046849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046849", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "hemopoiesis", "id": "GO:0030097", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030097", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "heart looping", "id": "GO:0001947", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001947", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "left/right axis specification", "id": "GO:0070986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070986", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "wound healing", "id": "GO:0042060", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042060", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "proximal tubule development", "id": "GO:0072014", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072014", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "cell fate determination", "id": "GO:0001709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001709", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "positive regulation of keratinocyte proliferation", "id": "GO:0010838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010838", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "regulation of osteoclast development", "id": "GO:2001204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001204", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "positive regulation of osteoclast differentiation", "id": "GO:0045672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045672", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": 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"name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "system development", "id": "GO:0048731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048731", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "positive regulation of signal transduction", "id": "GO:0009967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009967", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "animal organ development", "id": "GO:0048513", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048513", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" } ], "cellular_component": [ { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q04721", "url": "https://www.uniprot.org/uniprotkb/Q04721" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": 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"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:218", "name": "ascending colon cancer", "description": "", "url": "https://disease-ontology.org/term/DOID:218", "evidence": [ { "id": "218", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:218" } ], "weight": 0.0 }, { "disease_id": "DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary.", "url": "https://disease-ontology.org/term/DOID:2394", "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ], "weight": 0.0 }, { "disease_id": "DOID: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: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: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: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:3078", "name": "anaplastic astrocytoma", "description": "A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei.", "url": "https://disease-ontology.org/term/DOID:3078", "evidence": [ { "id": "3078", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3078" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver.", "url": "https://disease-ontology.org/term/DOID:3571", "evidence": [ { "id": "3571", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3571" } ], "weight": 0.0 }, { "disease_id": "DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin.", "url": "https://disease-ontology.org/term/DOID:3717", "evidence": [ { "id": "3717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ], "weight": 0.0 }, { "disease_id": "DOID:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:4852", "name": "pleomorphic xanthoastrocytoma", "description": "A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies.", "url": "https://disease-ontology.org/term/DOID:4852", "evidence": [ { "id": "4852", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:4852" } ], "weight": 0.0 }, { "disease_id": "DOID:5750", "name": "endometrial serous adenocarcinoma", "description": "A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia.", "url": "https://disease-ontology.org/term/DOID:5750", "evidence": [ { "id": "5750", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5750" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "MONDO:0014038", "name": "colorectal cancer, susceptibility to, 12", "description": "Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene.", "url": "https://monarchinitiative.org/disease/MONDO:0014038", "evidence": [ { "id": "615083", "database": "MIM", "url": 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Immunological analyzes show low memory B-cell and nave T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.", "url": "https://monarchinitiative.org/disease/MONDO:0014058", "evidence": [ { "id": "615139", "database": "MIM", "url": "https://www.omim.org/entry/615139" } ], "weight": 0.0 }, { "disease_id": "MONDO:0032684", "name": "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency", "description": "", "url": "https://monarchinitiative.org/disease/MONDO:0032684", "evidence": [ { "id": "618336", "database": "MIM", "url": "https://www.omim.org/entry/618336" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "DNA-directed DNA polymerase activity", "id": "GO:0003887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003887", "evidence": [ { "database": "UniProtKB", "id": "Q07864", "url": "https://www.uniprot.org/uniprotkb/Q07864" } ], "pmid": "" }, { "name": "single-stranded DNA 3'-5' DNA exonuclease activity", "id": "GO:0008310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008310", "evidence": [ { "database": "UniProtKB", "id": "Q07864", "url": "https://www.uniprot.org/uniprotkb/Q07864" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q07864", "url": "https://www.uniprot.org/uniprotkb/Q07864" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q07864", "url": "https://www.uniprot.org/uniprotkb/Q07864" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q07864", "url": "https://www.uniprot.org/uniprotkb/Q07864" } ], "pmid": "" }, { "name": "4 iron, 4 sulfur cluster binding", "id": "GO:0051539", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051539", "evidence": [ { "database": "UniProtKB", "id": "Q07864", "url": "https://www.uniprot.org/uniprotkb/Q07864" } ], "pmid": "" }, { "name": "nucleotide binding", "id": "GO:0000166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000166", "evidence": [ { "database": "UniProtKB", "id": "Q07864", "url": "https://www.uniprot.org/uniprotkb/Q07864" } ], "pmid": "" } ], "cellular_component": [ { "name": "epsilon DNA polymerase complex", "id": "GO:0008622", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008622", "evidence": [ { "database": "UniProtKB", "id": "Q07864", "url": "https://www.uniprot.org/uniprotkb/Q07864" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q07864", "url": "https://www.uniprot.org/uniprotkb/Q07864" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q07864", "url": "https://www.uniprot.org/uniprotkb/Q07864" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q07864", "url": "https://www.uniprot.org/uniprotkb/Q07864" } ], "pmid": "" } ], "biological_process": [ { "name": "leading strand elongation", "id": "GO:0006272", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006272", "evidence": [ { "database": "UniProtKB", "id": "Q07864", "url": "https://www.uniprot.org/uniprotkb/Q07864" } ], "pmid": "" }, { "name": "nucleotide-excision repair, DNA gap filling", "id": "GO:0006297", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006297", "evidence": [ { "database": "UniProtKB", "id": "Q07864", "url": "https://www.uniprot.org/uniprotkb/Q07864" } ], "pmid": "" }, { "name": "base-excision repair, gap-filling", "id": "GO:0006287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006287", "evidence": [ { "database": "UniProtKB", "id": 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keratosis and inflammation that progresses to atrophy and scarring of the facial skin.", "url": "https://disease-ontology.org/term/DOID:0080751", "evidence": [ { "id": "604093", "database": "MIM", "url": "https://www.omim.org/entry/604093" }, { "id": "0080751", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080751" } ], "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": 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"MONDO:0020769", "name": "Menke-Hennekam syndrome 2", "description": "", "url": "https://monarchinitiative.org/disease/MONDO:0020769", "evidence": [ { "id": "618333", "database": "MIM", "url": "https://www.omim.org/entry/618333" } ], "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": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "positive regulation of TORC1 signaling", "id": "GO:1904263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904263", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "internal protein amino acid acetylation", "id": "GO:0006475", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006475", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "peptidyl-lysine propionylation", "id": "GO:0061921", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061921", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "regulation of tubulin deacetylation", "id": "GO:0090043", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090043", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "peptidyl-lysine crotonylation", "id": "GO:0140066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140066", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "peptidyl-lysine butyrylation", "id": "GO:0140067", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140067", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "regulation of nucleotide-excision repair", "id": "GO:2000819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000819", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "negative regulation of chromosome condensation", "id": "GO:1902340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902340", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "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": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "regulation of glycolytic process", "id": "GO:0006110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006110", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "learning or memory", "id": "GO:0007611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007611", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "positive regulation of neuron projection development", "id": "GO:0010976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010976", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "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": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "regulation of cellular response to heat", "id": "GO:1900034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900034", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "response to hypoxia", "id": "GO:0001666", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001666", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "apoptotic process", "id": "GO:0006915", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006915", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "regulation of signal transduction by p53 class mediator", "id": "GO:1901796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901796", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "multicellular organism growth", "id": "GO:0035264", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035264", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator", "id": "GO:0042771", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042771", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "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": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "circadian rhythm", "id": "GO:0007623", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007623", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "negative regulation of autophagy", "id": "GO:0010507", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010507", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "positive regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030511", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "cellular response to nutrient levels", "id": "GO:0031669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031669", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "fat cell differentiation", "id": "GO:0045444", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045444", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "negative regulation of protein-containing complex assembly", "id": "GO:0031333", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031333", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "transcription initiation-coupled chromatin remodeling", "id": "GO:0045815", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045815", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "response to estrogen", "id": "GO:0043627", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043627", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "face morphogenesis", "id": "GO:0060325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060325", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "positive regulation of receptor signaling pathway via JAK-STAT", "id": "GO:0046427", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046427", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "negative regulation of gluconeogenesis", "id": "GO:0045721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045721", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "regulation of androgen receptor signaling pathway", "id": "GO:0060765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060765", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "canonical NF-kappaB signal transduction", "id": "GO:0007249", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007249", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "protein destabilization", "id": "GO:0031648", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031648", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "cellular response to UV", "id": "GO:0034644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034644", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "internal peptidyl-lysine acetylation", "id": "GO:0018393", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0018393", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "regulation of mitochondrion organization", "id": "GO:0010821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010821", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "protein acetylation", "id": "GO:0006473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006473", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "stimulatory C-type lectin receptor signaling pathway", "id": "GO:0002223", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002223", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "host-mediated activation of viral transcription", "id": "GO:0043923", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043923", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "cellular response to L-leucine", "id": "GO:0071233", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071233", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "positive regulation of TORC2 signaling", "id": "GO:1904515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904515", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "positive regulation of T-helper 17 cell lineage commitment", "id": "GO:2000330", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000330", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "negative regulation of protein oligomerization", "id": "GO:0032460", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032460", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "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": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "thigmotaxis", "id": "GO:0001966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001966", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "behavioral defense response", "id": "GO:0002209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002209", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "swimming", "id": "GO:0036268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036268", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "DNA repair-dependent chromatin remodeling", "id": "GO:0140861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140861", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "DNA-templated transcription", "id": "GO:0006351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006351", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "rhythmic process", "id": "GO:0048511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048511", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "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": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" } ], "molecular_function": [ { "name": "STAT family protein binding", "id": "GO:0097677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097677", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "protein-lysine-acetyltransferase activity", "id": "GO:0061733", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061733", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "protein propionyltransferase activity", "id": "GO:0061920", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061920", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "pre-mRNA intronic binding", "id": "GO:0097157", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097157", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "peptide butyryltransferase activity", "id": "GO:0140065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140065", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "histone crotonyltransferase activity", "id": "GO:0140068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140068", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "histone butyryltransferase activity", "id": "GO:0140069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140069", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "transcription coactivator activity", "id": "GO:0003713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003713", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" } ], "pmid": "" }, { "name": "damaged DNA binding", "id": "GO:0003684", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003684", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": 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{ "database": "PubMed", "id": "15632193", "url": "https://glygen.org/publication/PubMed/15632193" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "1024", "end_pos": "1024", "site_lbl": "Lys1024", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Abolishes sumoylation and transcriptional repression; when associated with A-1020.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "15632193", "url": "https://glygen.org/publication/PubMed/15632193" }, { "database": "PubMed", "id": "12718889", "url": "https://glygen.org/publication/PubMed/12718889" } ] }, { "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes sumoylation and transcriptional repression; when associated with R-1020.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "12718889", "url": "https://glygen.org/publication/PubMed/12718889" }, { "database": "PubMed", "id": "15632193", "url": "https://glygen.org/publication/PubMed/15632193" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "1170", "end_pos": "1170", "site_lbl": "Phe1170", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "E", "comment": "Increased acetyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "23934153", "url": "https://glygen.org/publication/PubMed/23934153" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "1204", "end_pos": "1204", "site_lbl": "Cys1204", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "R", "comment": "Increased acetyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "23934153", "url": "https://glygen.org/publication/PubMed/23934153" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "1242", "end_pos": "1242", "site_lbl": "Glu1242", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "K", "comment": "Increased acetyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "23934153", "url": "https://glygen.org/publication/PubMed/23934153" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "1357", "end_pos": "1357", "site_lbl": "Thr1357", "weight": 0.0, "mutagenesis": [ { "sequence_org": "T", "sequence_mut": "L", "comment": "40% decrease in activity.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "18273021", "url": "https://glygen.org/publication/PubMed/18273021" } ] }, { "sequence_org": "T", "sequence_mut": "R", "comment": "40% decrease in activity. 90% decrease in activity; when associated with R-1505; R-1625 and R-1628.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "18273021", "url": "https://glygen.org/publication/PubMed/18273021" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "1396", "end_pos": "1396", "site_lbl": "Ser1396", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "R", "comment": "Loss of activity; when associated with R-1397.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "18273021", "url": "https://glygen.org/publication/PubMed/18273021" } ] }, { "sequence_org": "S", "sequence_mut": "W", "comment": "Loss of activity; when associated with W-1396.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "18273021", "url": "https://glygen.org/publication/PubMed/18273021" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "1397", "end_pos": "1397", "site_lbl": "Tyr1397", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "R", "comment": "Loss of activity; when associated with R-1396.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "18273021", "url": "https://glygen.org/publication/PubMed/18273021" } ] }, { "sequence_org": "Y", "sequence_mut": "W", "comment": "Loss of activity; when associated with W-1397.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "18273021", "url": "https://glygen.org/publication/PubMed/18273021" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "1399", "end_pos": "1399", "site_lbl": "Asp1399", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "Y", "comment": "Abolished acetyltransferase and acyltransferase activities. Abolishes autoacetylation. Does not interact with TFAP2A and inhibits transcriptional coactivation of TFAP2A by CITED2. Does not inhibit interaction with CITED2, DNA-binding of TFAP2A or nuclear localization of TFAP2A or CITED2. No enhancement of FOXO1-mediated transcriptional activity. No inhibition of insulin-mediated translocation to the cytoplasm. No acetylation of RXRA.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "23934153", "url": "https://glygen.org/publication/PubMed/23934153" }, { "database": "PubMed", "id": "15890677", "url": "https://glygen.org/publication/PubMed/15890677" }, { "database": "PubMed", "id": "29775581", "url": "https://glygen.org/publication/PubMed/29775581" }, { "database": "PubMed", "id": "12586840", "url": "https://glygen.org/publication/PubMed/12586840" }, { "database": "PubMed", "id": "17761950", "url": "https://glygen.org/publication/PubMed/17761950" }, { "database": "PubMed", "id": "40240600", "url": "https://glygen.org/publication/PubMed/40240600" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "1467", "end_pos": "1467", "site_lbl": "Tyr1467", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "F", "comment": "Abolishes autoacetylation. Loss of acetyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "23934153", "url": "https://glygen.org/publication/PubMed/23934153" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "1504", "end_pos": "1504", "site_lbl": "Phe1504", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Abolished acetyltransferase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "24835996", "url": "https://glygen.org/publication/PubMed/24835996" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "1505", "end_pos": "1505", "site_lbl": "Glu1505", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "R", "comment": "90% decrease in activity; when associated with R-1625 and R-1628. 90% decrease in activity; when associated with R-1357; R-1625 and R-1628.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "18273021", "url": "https://glygen.org/publication/PubMed/18273021" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "1625", "end_pos": "1625", "site_lbl": "Asp1625", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "R", "comment": "70% decrease in activity; when associated with R-1628. 90% decrease in activity; when associated with R-1505 and R-1628. 90% decrease in activity; when associated with R-1357; R-1505 and R-1628.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "18273021", "url": "https://glygen.org/publication/PubMed/18273021" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "1628", "end_pos": "1628", "site_lbl": "Asp1628", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "R", "comment": "70% decrease in activity; when associated with R-1625. 90% decrease in activity; when associated with E-1505 and R-1625. 90% decrease in activity; when associated with R-1357; R-1505 and R-1625.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "18273021", "url": "https://glygen.org/publication/PubMed/18273021" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "2056", "end_pos": "2056", "site_lbl": "Arg2056", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "No effect on interaction with NCOA2.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "15731352", "url": "https://glygen.org/publication/PubMed/15731352" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "2088", "end_pos": "2088", "site_lbl": "Arg2088", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Abolishes interaction with NCOA2.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "15731352", "url": "https://glygen.org/publication/PubMed/15731352" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "2142", "end_pos": "2142", "site_lbl": "Arg2142", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "K", "comment": "Strongly reduces interaction with NCOA2.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "15731352", "url": "https://glygen.org/publication/PubMed/15731352" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "344", "end_pos": "344", "site_lbl": "Leu344", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Inhibits interaction with HIF1A and transcription activation; when associated with A-345.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "12778114", "url": "https://glygen.org/publication/PubMed/12778114" } ] } ] }, { "uniprot_canonical_ac": "Q09472-1", "start_pos": "345", "end_pos": "345", "site_lbl": "Leu345", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "A", "comment": "Inhibits interaction with HIF1A and transcription activation; when associated with A-344.", "evidence": [ { "database": "UniProtKB", "id": "Q09472", "url": "https://www.uniprot.org/uniprotkb/Q09472" }, { "database": "PubMed", "id": "12778114", "url": "https://glygen.org/publication/PubMed/12778114" } ] } ] } ], "record_id": "batch.Q09472-1" }, { "uniprot_canonical_ac": "Q09666-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "length": 5890, "chemical_mass": 629101.0, "gene_names": "AHNAK;AHNAK1;AHNAKRS;AHNAK;PM227", "protein_name": "Neuroblast differentiation-associated protein AHNAK", "disease": [ { "disease_id": "DOID:417", "name": "autoimmune disease", "description": "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.", "url": "https://disease-ontology.org/term/DOID:417", "evidence": [ { "id": "417", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:417" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" }, { "name": "cadherin binding", "id": "GO:0045296", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045296", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" }, { "name": "S100 protein binding", "id": "GO:0044548", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044548", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" }, { "name": "structural molecule activity conferring elasticity", "id": "GO:0097493", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097493", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" } ], "cellular_component": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" }, { "name": "focal adhesion", "id": "GO:0005925", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" }, { "name": "actin cytoskeleton", "id": "GO:0015629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015629", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" }, { "name": "vesicle", "id": "GO:0031982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031982", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" }, { "name": "T-tubule", "id": "GO:0030315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030315", "evidence": [ { "database": "UniProtKB", "id": "Q09666", "url": "https://www.uniprot.org/uniprotkb/Q09666" } ], "pmid": "" }, { "name": "cell-cell contact 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Changed glutamate-gated calcium ion channel activity characterized by increased desensitization.", "evidence": [ { "database": "UniProtKB", "id": "Q12879", "url": "https://www.uniprot.org/uniprotkb/Q12879" }, { "database": "PubMed", "id": "28095420", "url": "https://glygen.org/publication/PubMed/28095420" } ] }, { "sequence_org": "P", "sequence_mut": "Q", "comment": "No effect on localization to the cell membrane. 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proliferation of blood cells.", "url": "https://disease-ontology.org/term/DOID:1240", "evidence": [ { "id": "1240", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1240" } ], "weight": 0.0 }, { "disease_id": "DOID:12704", "name": "ataxia telangiectasia", "description": "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.", "url": "https://disease-ontology.org/term/DOID:12704", "evidence": [ { "id": "12704", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:12704" } ], "weight": 0.0 }, { "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": 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"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:1824", "name": "status epilepticus", "description": "", "url": "https://disease-ontology.org/term/DOID:1824", "evidence": [ { "id": "1824", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1824" } ], "weight": 0.0 }, { "disease_id": "DOID:3459", "name": "breast carcinoma", "description": "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells.", "url": "https://disease-ontology.org/term/DOID:3459", "evidence": [ { "id": "3459", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3459" } ], "weight": 0.0 }, { "disease_id": "DOID: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:3907", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell.", "url": "https://disease-ontology.org/term/DOID:3907", "evidence": [ { "id": "3907", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3907" } ], "weight": 0.0 }, { "disease_id": "DOID:3908", "name": "lung non-small cell carcinoma", "description": "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma.", "url": "https://disease-ontology.org/term/DOID:3908", "evidence": [ { "id": "3908", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3908" } ], "weight": 0.0 }, { "disease_id": "DOID:3969", "name": "papillary thyroid carcinoma", "description": "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a 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:5223", "name": "infertility", "description": "", "url": "https://disease-ontology.org/term/DOID:5223", "evidence": [ { "id": "5223", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5223" } ], "weight": 0.0 }, { "disease_id": "DOID:526", "name": "human immunodeficiency virus infectious disease", "description": "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 (Lentivirus humimdef1) or Human immunodeficiency virus 2 (Lentivirus humimdef2), which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands.", "url": "https://disease-ontology.org/term/DOID:526", "evidence": [ { "id": "526", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:526" } ], "weight": 0.0 }, { "disease_id": "DOID:5409", "name": "lung small cell carcinoma", "description": "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung.", "url": "https://disease-ontology.org/term/DOID:5409", "evidence": [ { "id": "5409", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5409" } ], "weight": 0.0 }, { "disease_id": "DOID:8634", "name": "prostate carcinoma in situ", "description": "An in situ carcinoma that is located_in the prostate.", "url": "https://disease-ontology.org/term/DOID:8634", "evidence": [ { "id": "8634", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8634" } ], "weight": 0.0 }, { "disease_id": "DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "url": "https://disease-ontology.org/term/DOID:9256", "evidence": [ { "id": "9256", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ], "weight": 0.0 }, { "disease_id": "DOID:9261", "name": "nasopharynx carcinoma", "description": "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract.", "url": "https://disease-ontology.org/term/DOID:9261", "evidence": [ { "id": "9261", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9261" } ], "weight": 0.0 }, { "disease_id": "DOID:9655", "name": "oral mucosa leukoplakia", "description": "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking.", "url": "https://disease-ontology.org/term/DOID:9655", "evidence": [ { "id": "9655", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9655" } ], "weight": 0.0 }, { "disease_id": "DOID:9669", "name": "senile cataract", "description": "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging.", "url": "https://disease-ontology.org/term/DOID:9669", "evidence": [ { "id": "9669", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9669" } ], "weight": 0.0 } ], "cellular_component": [ { "name": "extrinsic component of synaptic vesicle membrane", "id": "GO:0098850", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098850", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "centrosome", "id": "GO:0005813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "spindle", "id": "GO:0005819", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005819", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "site of double-strand break", "id": "GO:0035861", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035861", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "chromosome", "id": "GO:0005694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005694", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "DNA repair complex", "id": "GO:1990391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990391", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" } ], "molecular_function": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "DNA-dependent protein kinase activity", "id": "GO:0004677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004677", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "1-phosphatidylinositol-3-kinase activity", "id": "GO:0016303", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016303", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "protein serine kinase activity", "id": "GO:0106310", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106310", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "histone H2AXS139 kinase activity", "id": "GO:0035979", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035979", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" } ], "biological_process": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "regulation of autophagy", "id": "GO:0010506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010506", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "positive regulation of cell migration", "id": "GO:0030335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030335", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "positive regulation of apoptotic process", "id": "GO:0043065", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043065", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "positive regulation of cell adhesion", "id": "GO:0045785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045785", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "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": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "cellular response to retinoic acid", "id": "GO:0071300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071300", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "regulation of cellular response to heat", "id": "GO:1900034", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900034", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "regulation of signal transduction by p53 class mediator", "id": "GO:1901796", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901796", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "telomere maintenance", "id": "GO:0000723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000723", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "DNA damage response", "id": "GO:0006974", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006974", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "positive regulation of telomere maintenance via telomerase", "id": "GO:0032212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032212", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "protein stabilization", "id": "GO:0050821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050821", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "double-strand break repair", "id": "GO:0006302", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006302", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "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": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "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": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "response to ionizing radiation", "id": "GO:0010212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010212", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "signal transduction in response to DNA damage", "id": "GO:0042770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042770", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "regulation of apoptotic process", "id": "GO:0042981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042981", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "mitotic spindle assembly checkpoint signaling", "id": "GO:0007094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007094", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "positive regulation of DNA damage response, signal transduction by p53 class mediator", "id": "GO:0043517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043517", "evidence": [ { "database": "UniProtKB", "id": "Q13315", "url": "https://www.uniprot.org/uniprotkb/Q13315" } ], "pmid": "" }, { "name": "double-strand break repair via homologous recombination", "id": "GO:0000724", "url": 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"sequence_org": "L", "sequence_mut": "A", "comment": "Abolishes APC/C-mediated degradation; when associated with A-992 and A-1000.", "evidence": [ { "database": "UniProtKB", "id": "Q15303", "url": "https://www.uniprot.org/uniprotkb/Q15303" }, { "database": "PubMed", "id": "17638867", "url": "https://glygen.org/publication/PubMed/17638867" } ] } ] } ], "record_id": "batch.Q15303-1" }, { "uniprot_canonical_ac": "Q15413-1", "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q15413", "url": "https://www.uniprot.org/uniprotkb/Q15413" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "length": 4870, "chemical_mass": 552042.0, "gene_names": "RYR3;CMYO20;CMYP20;HBRR;RYR-3;RYR3", "protein_name": "Ryanodine receptor 3", "disease": [ { "disease_id": "DOID:0081352", "name": "congenital myopathy 20", "description": "A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures.", "url": "https://disease-ontology.org/term/DOID:0081352", "evidence": [ { "id": "620310", "database": "MIM", "url": "https://www.omim.org/entry/620310" }, { "id": "0081352", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0081352" } ], "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: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: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:3529", "name": "congenital myopathy 1A", "description": "A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe.", "url": "https://disease-ontology.org/term/DOID:3529", "evidence": [ { "id": "3529", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3529" } ], "weight": 0.0 }, { "disease_id": "DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries.", "url": "https://disease-ontology.org/term/DOID:6432", "evidence": [ { "id": "6432", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ], "weight": 0.0 }, { "disease_id": "DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver.", "url": "https://disease-ontology.org/term/DOID:684", "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ], "weight": 0.0 }, { "disease_id": "DOID:8545", "name": "malignant hyperthermia", "description": "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine).", "url": "https://disease-ontology.org/term/DOID:8545", "evidence": [ { "id": "8545", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:8545" } ], "weight": 0.0 } ], "molecular_function": [ { "name": "calmodulin binding", "id": "GO:0005516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005516", "evidence": [ { "database": "UniProtKB", "id": "Q15413", "url": "https://www.uniprot.org/uniprotkb/Q15413" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q15413", "url": "https://www.uniprot.org/uniprotkb/Q15413" } ], "pmid": "" }, { "name": "intracellularly gated calcium channel 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"" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q15413", "url": "https://www.uniprot.org/uniprotkb/Q15413" } ], "pmid": "" }, { "name": "sarcolemma", "id": "GO:0042383", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042383", "evidence": [ { "database": "UniProtKB", "id": "Q15413", "url": "https://www.uniprot.org/uniprotkb/Q15413" } ], "pmid": "" }, { "name": "Z disc", "id": "GO:0030018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030018", "evidence": [ { "database": "UniProtKB", "id": "Q15413", "url": "https://www.uniprot.org/uniprotkb/Q15413" } ], "pmid": "" }, { "name": "calcium channel complex", "id": "GO:0034704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034704", "evidence": [ { "database": "UniProtKB", "id": "Q15413", "url": "https://www.uniprot.org/uniprotkb/Q15413" } ], "pmid": "" }, { "name": "sarcoplasmic reticulum membrane", "id": "GO:0033017", "url": 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"GO:1903980", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903980", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "MAPK cascade", "id": "GO:0000165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000165", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "JNK cascade", "id": "GO:0007254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007254", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "exploration behavior", "id": "GO:0035640", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035640", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "neuron projection morphogenesis", "id": "GO:0048812", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048812", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "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": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "Rho protein signal transduction", "id": "GO:0007266", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007266", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "protein autophosphorylation", "id": "GO:0046777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046777", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "autophagy", "id": "GO:0006914", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006914", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "lysosome organization", "id": "GO:0007040", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007040", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of protein stability", "id": "GO:0031647", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031647", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cellular response to oxidative stress", "id": "GO:0034599", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034599", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cellular response to dopamine", "id": "GO:1903351", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903351", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of autophagy", "id": "GO:0010508", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010508", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "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": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "intracellular protein localization", "id": "GO:0008104", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008104", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of GTPase activity", "id": "GO:0034260", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034260", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "canonical Wnt signaling pathway", "id": "GO:0060070", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060070", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "mitochondrion organization", "id": "GO:0007005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "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": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of proteasomal ubiquitin-dependent protein catabolic process", "id": "GO:0032436", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032436", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of macroautophagy", "id": "GO:0016242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016242", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of dopamine receptor signaling pathway", "id": "GO:0060159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060159", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of dendritic spine morphogenesis", "id": "GO:0061001", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061001", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "Golgi organization", "id": "GO:0007030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007030", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "GTP metabolic process", "id": "GO:0046039", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046039", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "locomotory exploration behavior", "id": "GO:0035641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035641", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway", "id": "GO:1901030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901030", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of protein targeting to mitochondrion", "id": "GO:1903215", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903215", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of synaptic transmission, glutamatergic", "id": "GO:0051966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051966", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cellular response to manganese ion", "id": "GO:0071287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071287", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "mitochondrion localization", "id": "GO:0051646", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051646", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "protein localization to endoplasmic reticulum exit site", "id": "GO:0070973", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070973", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "endoplasmic reticulum organization", "id": "GO:0007029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007029", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "determination of adult lifespan", "id": "GO:0008340", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008340", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway", "id": "GO:1902236", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902236", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "intracellular distribution of mitochondria", "id": "GO:0048312", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048312", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "striatum development", "id": "GO:0021756", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021756", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of programmed cell death", "id": "GO:0043068", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043068", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle endocytosis", "id": "GO:1900242", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900242", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of dopamine receptor signaling pathway", "id": "GO:0060161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060161", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "olfactory bulb development", "id": "GO:0021772", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021772", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of excitatory postsynaptic potential", "id": "GO:0090394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090394", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of protein processing", "id": "GO:0010955", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010955", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of neuron maturation", "id": "GO:0014041", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014041", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "tangential migration from the subventricular zone to the olfactory bulb", "id": "GO:0022028", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022028", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of kidney size", "id": "GO:0035564", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035564", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of lysosomal lumen pH", "id": "GO:0035751", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035751", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "neuron projection arborization", "id": "GO:0140058", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0140058", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "positive regulation of protein autoubiquitination", "id": "GO:1902499", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902499", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of neuroblast proliferation", "id": "GO:1902692", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902692", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle transport", "id": "GO:1902803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902803", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of late endosome to lysosome transport", "id": "GO:1902823", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902823", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of protein processing involved in protein targeting to mitochondrion", "id": "GO:1903217", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903217", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "Wnt signalosome assembly", "id": "GO:1904887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904887", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of retrograde transport, endosome to Golgi", "id": "GO:1905279", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905279", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of CAMKK-AMPK signaling cascade", "id": "GO:1905289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905289", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of branching morphogenesis of a nerve", "id": "GO:2000172", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000172", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of synaptic vesicle exocytosis", "id": "GO:2000300", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000300", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cellular response to curcumin", "id": "GO:1904644", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904644", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of cAMP/PKA signal transduction", "id": "GO:0141161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0141161", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "negative regulation of motile cilium assembly", "id": "GO:1905504", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905504", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of developmental process", "id": "GO:0050793", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050793", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "regulation of signal transduction", "id": "GO:0009966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009966", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cell communication", "id": "GO:0007154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007154", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" } ], "cellular_component": [ { "name": "glutamatergic synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "mitochondrial outer membrane", "id": "GO:0005741", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005741", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "mitochondrial inner membrane", "id": "GO:0005743", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005743", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "mitochondrial matrix", "id": "GO:0005759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005759", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "endosome", "id": "GO:0005768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005768", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "Golgi-associated vesicle", "id": "GO:0005798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005798", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "dendrite", "id": "GO:0030425", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030425", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "growth cone", "id": "GO:0030426", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030426", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "perikaryon", "id": "GO:0043204", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043204", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "dendrite cytoplasm", "id": "GO:0032839", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032839", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "phagocytic vesicle", "id": "GO:0045335", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "endoplasmic reticulum exit site", "id": "GO:0070971", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070971", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "trans-Golgi network", "id": "GO:0005802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005802", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "Wnt signalosome", "id": "GO:1990909", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990909", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "microvillus", "id": "GO:0005902", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005902", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "Lewy body", "id": "GO:0097413", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097413", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "ribonucleoprotein complex", "id": "GO:1990904", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990904", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "autolysosome", "id": "GO:0044754", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044754", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "multivesicular body, internal vesicle", "id": "GO:0097487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097487", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "cytoplasmic side of mitochondrial outer membrane", "id": "GO:0032473", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032473", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "amphisome", "id": "GO:0044753", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044753", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "caveola neck", "id": "GO:0099400", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099400", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "presynaptic cytosol", "id": "GO:0099523", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099523", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" } ], "molecular_function": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "actin binding", "id": "GO:0003779", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "GTPase activity", "id": "GO:0003924", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003924", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "protein kinase activity", "id": "GO:0004672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004672", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "protein serine/threonine kinase activity", "id": "GO:0004674", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004674", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "GTP binding", "id": "GO:0005525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005525", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "microtubule binding", "id": "GO:0008017", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008017", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "protein homodimerization activity", "id": "GO:0042803", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "small GTPase binding", "id": "GO:0031267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031267", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "clathrin binding", "id": "GO:0030276", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030276", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "protein kinase A binding", "id": "GO:0051018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051018", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "tubulin binding", "id": "GO:0015631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015631", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "beta-catenin destruction complex binding", "id": "GO:1904713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904713", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "SNARE binding", "id": "GO:0000149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000149", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "kinase activity", "id": "GO:0016301", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016301", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" } ], "pmid": "" }, { "name": "MAP kinase kinase kinase activity", "id": "GO:0004709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004709", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": 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Inhibits autophosphorylation and RAB10 phosphorylation when associated with N-1348 or A-2017.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "29212815", "url": "https://glygen.org/publication/PubMed/29212815" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "1710", "end_pos": "1710", "site_lbl": "Asn1710", "weight": 0.0, "mutagenesis": [ { "sequence_org": "N", "sequence_mut": "A", "comment": "Impairs RAB29-stimulated kinase activity on RAB10, RAB29 and LRRK2.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "38127736", "url": "https://glygen.org/publication/PubMed/38127736" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "1791", "end_pos": "1791", "site_lbl": "Trp1791", "weight": 0.0, "mutagenesis": [ { "sequence_org": "W", "sequence_mut": "A", "comment": "Impairs RAB29-stimulated kinase activity on RAB10, RAB29 and LRRK2.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "38127736", "url": "https://glygen.org/publication/PubMed/38127736" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "1906", "end_pos": "1906", "site_lbl": "Lys1906", "weight": 0.0, "mutagenesis": [ { "sequence_org": "K", "sequence_mut": "A", "comment": "Loss of kinase activity. Decreases proteasomal degradation of MAPT; when associated with N-1994 and A-2017.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "26014385", "url": "https://glygen.org/publication/PubMed/26014385" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "1994", "end_pos": "1994", "site_lbl": "Asp1994", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "28720718", "url": "https://glygen.org/publication/PubMed/28720718" } ] }, { "sequence_org": "D", "sequence_mut": "N", "comment": "Loss of kinase activity. No loss of interaction with SEC16A and no loss of ability to recruit SEC16A to endoplasmic reticulum exit sites. Decreases proteasomal degradation of MAPT; when associated with A-1906 and A-2017.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "25201882", "url": "https://glygen.org/publication/PubMed/25201882" }, { "database": "PubMed", "id": "26824392", "url": "https://glygen.org/publication/PubMed/26824392" }, { "database": "PubMed", "id": "26014385", "url": "https://glygen.org/publication/PubMed/26014385" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2017", "end_pos": "2017", "site_lbl": "Asp2017", "weight": 0.0, "mutagenesis": [ { "sequence_org": "D", "sequence_mut": "A", "comment": "Loss of kinase activity. Decreases proteasomal degradation of MAPT; when associated with A-1906 and N-1994. Loss of phosphorylation of RAB10; when associated with G-1441, C-1699, or S-2019.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "26014385", "url": "https://glygen.org/publication/PubMed/26014385" }, { "database": "PubMed", "id": "29125462", "url": "https://glygen.org/publication/PubMed/29125462" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" }, { "database": "PubMed", "id": "29212815", "url": "https://glygen.org/publication/PubMed/29212815" }, { "database": "PubMed", "id": "38127736", "url": "https://glygen.org/publication/PubMed/38127736" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2019", "end_pos": "2019", "site_lbl": "Gly2019", "weight": 0.0, "mutagenesis": [ { "sequence_org": "G", "sequence_mut": "S", "comment": "Decreased membrane association when associated with D-727, D-728, or D-729. Inhibits autophosphorylation and RAB10 phosphorylation when associated with N-1348 or A-2017.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "29212815", "url": "https://glygen.org/publication/PubMed/29212815" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2343", "end_pos": "2343", "site_lbl": "Leu2343", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Decreases WD domain homodimerization. No effect on kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2344", "end_pos": "2344", "site_lbl": "Phe2344", "weight": 0.0, "mutagenesis": [ { "sequence_org": "F", "sequence_mut": "A", "comment": "Decreases WD domain homodimerization. No effect on kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2345", "end_pos": "2345", "site_lbl": "Ser2345", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "D", "comment": "Decreases WD domain homodimerization. No effect on kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2346", "end_pos": "2346", "site_lbl": "Tyr2346", "weight": 0.0, "mutagenesis": [ { "sequence_org": "Y", "sequence_mut": "A", "comment": "Decreases WD domain homodimerization. No effect on kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2391", "end_pos": "2391", "site_lbl": "His2391", "weight": 0.0, "mutagenesis": [ { "sequence_org": "H", "sequence_mut": "D", "comment": "Increases kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2394", "end_pos": "2394", "site_lbl": "Arg2394", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Decreases WD domain homodimerization. Increases kinase activity and autophosphorylation at Ser-1292.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2395", "end_pos": "2395", "site_lbl": "Glu2395", "weight": 0.0, "mutagenesis": [ { "sequence_org": "E", "sequence_mut": "R", "comment": "Decreases WD domain homodimerization. No effect on kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2408", "end_pos": "2408", "site_lbl": "Met2408", "weight": 0.0, "mutagenesis": [ { "sequence_org": "M", "sequence_mut": "A", "comment": "No effect on WD domain homodimerization. No effect on kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] }, { "sequence_org": "M", "sequence_mut": "E", "comment": "No effect on WD domain homodimerization. No effect on kinase activity.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "2409", "end_pos": "2409", "site_lbl": "Ser2409", "weight": 0.0, "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "comment": "Decreases WD domain homodimerization.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "30635421", "url": "https://glygen.org/publication/PubMed/30635421" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "399", "end_pos": "399", "site_lbl": "Arg399", "weight": 0.0, "mutagenesis": [ { "sequence_org": "R", "sequence_mut": "E", "comment": "Reduces membrane localization and abolishes interaction with RAB29/RAB7L1. Impairs RAB29-stimulated kinase activity on RAB10, RAB29 and LRRK2.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "38127736", "url": "https://glygen.org/publication/PubMed/38127736" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "403", "end_pos": "403", "site_lbl": "Leu403", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "E", "comment": "Reduces membrane localization and abolishes interaction with RAB29/RAB7L1. Impairs RAB29-stimulated kinase activity on RAB10, RAB29 and LRRK2.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "38127736", "url": "https://glygen.org/publication/PubMed/38127736" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "727", "end_pos": "727", "site_lbl": "Cys727", "weight": 0.0, "mutagenesis": [ { "sequence_org": "C", "sequence_mut": "D", "comment": "Decreased kinase activity. Loss of RAB29-mediated activation and autophosphorylation of S-910, S-935, S-955, S-973 and S-1292. Decreased membrane association; when associated with G-1441, C-1699 and S-2019.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "29212815", "url": "https://glygen.org/publication/PubMed/29212815" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "728", "end_pos": "728", "site_lbl": "Leu728", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Decreased kinase activity. Loss of RAB29-mediated activation and autophosphorylation of S-910, S-935, S-955, S-973 and S-1292. Decreased membrane association; when associated with G-1441, C-1699 and S-2019.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "29212815", "url": "https://glygen.org/publication/PubMed/29212815" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "729", "end_pos": "729", "site_lbl": "Leu729", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Decreased kinase activity. Loss of RAB29-mediated activation and autophosphorylation of S-910, S-935, S-955, S-973 and S-1292. Decreased membrane association; when associated with G-1441, C-1699 and S-2019.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "29212815", "url": "https://glygen.org/publication/PubMed/29212815" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "760", "end_pos": "760", "site_lbl": "Leu760", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Decreased kinase activity and loss of RAB29-mediated activation.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "29212815", "url": "https://glygen.org/publication/PubMed/29212815" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "761", "end_pos": "761", "site_lbl": "Leu761", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Decreased kinase activity and loss of RAB29-mediated activation.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "29212815", "url": "https://glygen.org/publication/PubMed/29212815" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "762", "end_pos": "762", "site_lbl": "Leu762", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "Decreased kinase activity and loss of RAB29-mediated activation.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "29212815", "url": "https://glygen.org/publication/PubMed/29212815" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "789", "end_pos": "789", "site_lbl": "Leu789", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "No effect on kinase activity and RAB29-mediated activation.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "29212815", "url": "https://glygen.org/publication/PubMed/29212815" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "790", "end_pos": "790", "site_lbl": "Leu790", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "No effect on kinase activity and RAB29-mediated activation.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "29212815", "url": "https://glygen.org/publication/PubMed/29212815" } ] } ] }, { "uniprot_canonical_ac": "Q5S007-1", "start_pos": "791", "end_pos": "791", "site_lbl": "Leu791", "weight": 0.0, "mutagenesis": [ { "sequence_org": "L", "sequence_mut": "D", "comment": "No effect on kinase activity and RAB29-mediated activation.", "evidence": [ { "database": "UniProtKB", "id": "Q5S007", "url": "https://www.uniprot.org/uniprotkb/Q5S007" }, { "database": "PubMed", "id": "29212815", "url": "https://glygen.org/publication/PubMed/29212815" } ] } ] } ], "record_id": "batch.Q5S007-1" } ]