{ "uniprot_canonical_ac": "P56720-2", "uniprot_ac": "P56720", "uniprot_id": "SRBP1_RAT", "mass": { "chemical_mass": 120521.0, "monoisotopic_mass": 120521.0 }, "refseq": { "ac": "NP_001263636", "name": "sterol regulatory element-binding protein 1 isoform 1 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263636" }, "gene_names": [ { "name": "Srebf1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P56720", "id": "P56720" }, { "name": "ADD-1; ADD1; SREBP-1; SREBP-1c; Srebp1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263636", "id": "NP_001263636" }, { "name": "Srebf1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263636", "id": "NP_001263636" }, { "name": "Srebp1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P56720", "id": "P56720" } ], "protein_names": [ { "name": "Sterol regulatory element-binding protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P56720" }, { "name": "ADD1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P56720" }, { "name": "Adipocyte determination- and differentiation-dependent factor 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P56720" }, { "name": "SREBP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P56720" }, { "name": "Sterol regulatory element-binding transcription factor 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P56720" }, { "name": "Transcription factor SREBF1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P56720" }, { "name": "sterol regulatory element-binding protein 1 isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263636", "id": "NP_001263636" }, { "name": "sterol regulatory element-binding protein 1; adipocyte determination- and differentiation-dependent factor 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263636", "id": "NP_001263636" } ], "function": [ { "annotation": "Investigation of the hepatic mTOR/S6K1/SREBP1 signalling pathway in rats at different ages: from neonates to adults.", "evidence": [ { "database": "RefSeq", "id": "NP_001263636", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263636" }, { "database": "PubMed", "id": "34655015", "url": "https://glygen.org/publication/PubMed/34655015" } ] }, { "annotation": "Isoform expressed only in select tissues, which has higher transcriptional activity compared to SREBP-1C (By similarity). Able to stimulate both lipogenic and cholesterogenic gene expression (By similarity). Has a role in the nutritional regulation of fatty acids and triglycerides in lipogenic organs such as the liver. Required for innate immune response in macrophages by regulating lipid metabolism (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720#function" }, { "database": "UniProtKB", "id": "P36956", "url": "https://www.uniprot.org/uniprot/P36956#function" }, { "database": "UniProtKB", "id": "Q9WTN3", "url": "https://www.uniprot.org/uniprot/Q9WTN3#function" } ] }, { "annotation": "Key transcription factor that regulates expression of genes involved in cholesterol biosynthesis and lipid homeostasis (By similarity). Binds to the sterol regulatory element 1 (SRE-1) (5'-ATCACCCCAC-3') (PubMed:7739539). Has dual sequence specificity binding to both an E-box motif (5'-ATCACGTGA-3') and to SRE-1 (5'-ATCACCCCAC-3') (By similarity). Regulates the promoters of genes involved in cholesterol biosynthesis and the LDL receptor (LDLR) pathway of sterol regulation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720#function" }, { "database": "PubMed", "id": "7739539", "url": "https://glygen.org/publication/PubMed/7739539" }, { "database": "UniProtKB", "id": "P36956", "url": "https://www.uniprot.org/uniprot/P36956#function" } ] }, { "annotation": "Lipotoxicity reduced the expression of lipid metabolism-related molecules in ISCs treated with PA, especially SREBP-1c. Overexpression of SREBP-1c in ISCs improved islet viability and insulin secretion in co-cultures.", "evidence": [ { "database": "RefSeq", "id": "NP_001263636", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263636" }, { "database": "PubMed", "id": "30998947", "url": "https://glygen.org/publication/PubMed/30998947" } ] }, { "annotation": "Precursor of the transcription factor form (Processed sterol regulatory element-binding protein 1), which is embedded in the endoplasmic reticulum membrane (By similarity). Low sterol concentrations promote processing of this form, releasing the transcription factor form that translocates into the nucleus and activates transcription of genes involved in cholesterol biosynthesis and lipid homeostasis (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720#function" }, { "database": "UniProtKB", "id": "P36956", "url": "https://www.uniprot.org/uniprot/P36956#function" }, { "database": "UniProtKB", "id": "Q9WTN3", "url": "https://www.uniprot.org/uniprot/Q9WTN3#function" } ] }, { "annotation": "Predominant isoform expressed in most tissues, which has weaker transcriptional activity compared to isoform SREBP-1A (By similarity). Primarily controls expression of lipogenic gene (By similarity). Strongly activates global lipid synthesis in rapidly growing cells (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720#function" }, { "database": "UniProtKB", "id": "P36956", "url": "https://www.uniprot.org/uniprot/P36956#function" }, { "database": "UniProtKB", "id": "Q9WTN3", "url": "https://www.uniprot.org/uniprot/Q9WTN3#function" } ] }, { "annotation": "SIRT6 regulates SREBP1c-induced glucolipid metabolism in liver and pancreas via the AMPKalpha-mTORC1 pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001263636", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263636" }, { "database": "PubMed", "id": "34923569", "url": "https://glygen.org/publication/PubMed/34923569" } ] }, { "annotation": "This study was aimed to evaluate the efficacy of isoquercetin on the regulation of lipid metabolism, sterol regulatory element binding transcription factor 1 (SREBP-1C), adenosine monophosphate-activated protein kinase (AMPK), and inflammatory markers in diabetic rats.", "evidence": [ { "database": "RefSeq", "id": "NP_001263636", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263636" }, { "database": "PubMed", "id": "31677037", "url": "https://glygen.org/publication/PubMed/31677037" } ] } ], "disease": [ { "disease_id": "DOID:0014667", "recommended_name": { "id": "DOID:0014667", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0014667", "name": "disease of metabolism", "description": "A disease that involving errors in metabolic processes of building or degradation of molecules." }, "synonyms": [ { "id": "DOID:0014667", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0014667", "name": "metabolic disease", "description": "" } ], "evidence": [ { "id": "0014667", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0014667" } ] }, { "disease_id": "DOID:0080208", "recommended_name": { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-associated steatotic liver disease", "description": "A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are:(1) Body mass index 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.(2) Fasting serum glucose 5.6 mmol/L, 2-hr post-load glucose levels 7.8 mmol/L, glycated hemoglobin (HbA1c) 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose 11.1 mmol/L (pediatric only).(3) Blood pressure lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age 13 years); or specific hypertensive drug treatment.(4) Plasma triglycerides 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age 10 years); or lipid lowering treatment.(5) Plasma high-density lipoprotein cholesterol 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment." }, "synonyms": [ { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "non-alcoholic fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "NAFLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-associated fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic dysfunction-related steatotic liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "MAFLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "MASLD", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "metabolic-associated fatty liver disease", "description": "" }, { "id": "DOID:0080208", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080208", "name": "nonalcoholic fatty liver disease", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "fatty liver disease, nonalcoholic, susceptibility to, 2", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "NAFLD2", "description": "" }, { "id": "MONDO:0013246", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013246", "name": "fatty liver disease, nonalcoholic, susceptibility to, 2", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "NAFLD1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "NAFLD1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "fatty liver disease, nonalcoholic, susceptibility to, 1", "description": "" }, { "id": "MONDO:0021105", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0021105", "name": "liver disease, alcoholic, susceptibility to, 1", "description": "" }, { "id": "MIM:613282", "resource": "MIM", "url": "https://www.omim.org/entry/613282", "name": "Non-alcoholic fatty liver disease 1", "description": "Non-alcoholic fatty liver disease 1" } ], "evidence": [ { "id": "0080208", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080208" } ] }, { "disease_id": "DOID:0080547", "recommended_name": { "id": "DOID:0080547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080547", "name": "metabolic dysfunction-associated steatohepatitis", "description": "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis." }, "synonyms": [ { "id": "DOID:0080547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080547", "name": "non-alcoholic steatohepatitis", "description": "" }, { "id": "DOID:0080547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080547", "name": "NASH", "description": "" }, { "id": "DOID:0080547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080547", "name": "MASH", "description": "" }, { "id": "DOID:0080547", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080547", "name": "nonalcoholic steatohepatitis", "description": "" } ], "evidence": [ { "id": "0080547", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080547" } ] }, { "disease_id": "DOID:10273", "recommended_name": { "id": "DOID:10273", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10273", "name": "heart conduction disease", "description": "A cardiovascular system disease that involves the heart's electrical conduction system." }, "synonyms": [ { "id": "DOID:10273", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10273", "name": "heart rhythm disease", "description": "" } ], "evidence": [ { "id": "10273", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10273" } ] }, { "disease_id": "DOID:12351", "recommended_name": { "id": "DOID:12351", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12351", "name": "alcoholic hepatitis", "description": "" }, "synonyms": [ { "id": "DOID:12351", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12351", "name": "acute alcoholic hepatitis", "description": "" }, { "id": "DOID:12351", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12351", "name": "acute alcoholic liver disease", "description": "" } ], "evidence": [ { "id": "12351", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12351" } ] }, { "disease_id": "DOID:1574", "recommended_name": { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences." }, "synonyms": [ { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "Ethanol abuse", "description": "" }, { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "alcohol abuse", "description": "" } ], "evidence": [ { "id": "1574", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ] }, { "disease_id": "DOID:557", "recommended_name": { "id": "DOID:557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:557", "name": "kidney disease", "description": "A urinary system disease that is located_in the kidney." }, "synonyms": [ { "id": "DOID:557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:557", "name": "impaired renal function disease", "description": "" }, { "id": "DOID:557", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:557", "name": "nephropathy", "description": "" } ], "evidence": [ { "id": "557", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:557" } ] }, { "disease_id": "DOID:9352", "recommended_name": { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [ { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "NIDDM", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type 2 diabetes", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "type II diabetes mellitus", "description": "" }, { "id": "DOID:9352", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9352", "name": "insulin resistance", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "diabetes mellitus, noninsulin-dependent, type 4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "Niddm4", "description": "" }, { "id": "MONDO:0011955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011955", "name": "noninsulin-dependent diabetes mellitus 4", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity." }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "NIDDM", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "T2DM - type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "adult-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitis type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, association with", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, late onset", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes, type 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, severe, digenic", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "non-insulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin dependent diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "noninsulin-dependent diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus non-insulin dependent", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type II diabetes mellitus", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, non-insulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, noninsulin-dependent, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, protection against", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type 2, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "diabetes mellitus, type II, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "hypertension, insulin resistance-related, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "insulin resistance, susceptibility to", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "maturity-onset diabetes", "description": "" }, { "id": "MONDO:0005148", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005148", "name": "type 2 diabetes mellitus, susceptibility to", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, type 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "NIDDM1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "noninsulin-dependent diabetes mellitus 1", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "NIDDM2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "noninsulin-dependent diabetes mellitus 2", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, type 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "type 2 diabetes mellitus 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "NIDDM3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "noninsulin-dependent diabetes mellitus 3", "description": "" }, { "id": "MIM:125853", "resource": "MIM", "url": "https://www.omim.org/entry/125853", "name": "Type 2 diabetes mellitus", "description": "Type 2 diabetes mellitus" }, { "id": "MIM:601283", "resource": "MIM", "url": "https://www.omim.org/entry/601283", "name": "Type 2 diabetes mellitus 1", "description": "Type 2 diabetes mellitus 1" } ], "evidence": [ { "id": "9352", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9352" } ] }, { "disease_id": "DOID:9455", "recommended_name": { "id": "DOID:9455", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9455", "name": "lipid storage disease", "description": "A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues." }, "synonyms": [ { "id": "DOID:9455", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9455", "name": "Lipoid storage diseas", "description": "" }, { "id": "DOID:9455", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9455", "name": "inborn lipid storage disorder", "description": "" }, { "id": "DOID:9455", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9455", "name": "lipoidosis", "description": "" } ], "evidence": [ { "id": "9455", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9455" } ] }, { "disease_id": "DOID:9743", "recommended_name": { "id": "DOID:9743", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9743", "name": "diabetic neuropathy", "description": "" }, "synonyms": [], "evidence": [ { "id": "9743", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9743" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720" } ], "common_name": "Rat" } ], "gene": [ { "name": "Srebf1", "url": "https://www.uniprot.org/uniprot/P56720", "locus": { "chromosome": "10", "start_pos": 45007637, "end_pos": 45029650, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000003463", "url": "https://www.ensembl.org/id/ENSRNOG00000003463" } ] } } ], "crossref": [ { "id": "ENSRNOG00000003463", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000003463", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd18921", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd18921", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "78968", "url": "https://www.ncbi.nlm.nih.gov/gene/78968", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR011598", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011598", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036638", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036638", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:78968", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:78968", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "QLCQHIP", "url": "https://omabrowser.org/oma/group/QLCQHIP/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3668492at2759", "url": "http://www.orthodb.org/?query=3668492at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46062", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46062", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46062:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46062:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00010", "url": "http://pfam.xfam.org/family/PF00010", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P56720", "url": "http://purl.obolibrary.org/obo/PR_P56720", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-RNO-1655829", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1655829", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-191273", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-191273", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001263636", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001263636", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "69423", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=69423", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P56720-1", "url": "https://www.uniprot.org/uniprot/P56720-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P56720-2", "url": "https://www.uniprot.org/uniprot/P56720-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDELPFGEAALEQALAEVCEMDAALLTDIEDMLQLINNQDSDFPGLFDAPYAGGETGDTGPSSPGASSPESFSSPASLGSSLEAFLGGPKVTPAPLSPPPSAPTAVKMYPSVPPFSPGPGIKEEPVPLTILQPPAPQPSPGTLLPPSFPPPPVQLSPAPVLGYSSLPSGFSGTLPGNTQQTPSSLPLGSTPGISPTPLHTQVQSSAAQQPPPASAAPRMSTVASQIQQVPVVLQPHFIKADSLLLTAVKTDTGATMKTAGINTLAPGTAVQAGPLQTLVSGGTILATVPLVVDTDKLPIHRLAAGGKALGSAQSRGEKRTAHNAIEKRYRSSINDKIVELKDLVVGTEAKLNKSAVLRKAIDYIRFLQHSNQKLKQENLTLRSAHKSKSLKDLVSACGSGGGTDVSMEGMKPEVVETLTPPPSDAGSPSQSSPLSLGSRGSSSGGSDSEPDSPAFEDNQVKAQRLPSHSRGMLDRSRLALCVLVFLCLTCNPLASLFGWGILTPSDASGVHRSSGRSMLEAESRDGSNWTQWLLPPLVWLANGLLVLACLALLFVYGEPVTRPHSGPAVHFWRHRKQADLDLARGDFAQAAQQLWLALQALGRPLPTSNLDLACSLLWNLVRHLLQRLWVGRWLAGQAGGLQRDYRLRKDARASARDAAVVYHKLHQLHAMGKYTGGHLVASNLALSALNLAECAGDAISMATLAEIYVAAALRVKTSLPRALHFLTRFFLSSARQACLAQSGAVPLAMQWLCHPVGHRFFVDGDWAVHGAPQESLYSVAGNPVDPLAQVTRLFCEHLLERALNCIAQPSPGAADGDREFSDALGYLQLLNSCSDAVGAPACSFSVSSSMATTTGTDPVAKWWASLTAVVIHWLRRDEEAAERLYPLVEHIPQVLQETERPLPRAALYSFKAARALLDHRKVESSPASLAICEKASGYLRDSLASTSTASSIDKAMQLLLCDLLLVARTSLWRRQQSAASAQGAHGTSNGPQASALELRGFQHDLSSLRRLAQSFRPAMRRVFLHEATARLMAGASPARTHQLLDRSLRRRAGSSGKGGAAAELEPRPTWREHTEALLLASCYLPPAFLSAPGQRVSMLAEAARTVEKLGDHRLLLDCQQMLLRLGGGTTVTSS", "length": 1134, "header": "sp|P56720-2|SRBP1_RAT Isoform 2 of Sterol regulatory element-binding protein 1 OS=Rattus norvegicus OX=10116 GN=Srebf1 PE=1 SV=3 CANONICAL=P56720-2" }, "isoforms": [ { "isoform_ac": "P56720-1", "url": "", "sequence": { "sequence": "MDCTFEDMLQLINNQDSDFPGLFDAPYAGGETGDTGPSSPGASSPESFSSPASLGSSLEAFLGGPKVTPAPLSPPPSAPTAVKMYPSVPPFSPGPGIKEEPVPLTILQPPAPQPSPGTLLPPSFPPPPVQLSPAPVLGYSSLPSGFSGTLPGNTQQTPSSLPLGSTPGISPTPLHTQVQSSAAQQPPPASAAPRMSTVASQIQQVPVVLQPHFIKADSLLLTAVKTDTGATMKTAGINTLAPGTAVQAGPLQTLVSGGTILATVPLVVDTDKLPIHRLAAGGKALGSAQSRGEKRTAHNAIEKRYRSSINDKIVELKDLVVGTEAKLNKSAVLRKAIDYIRFLQHSNQKLKQENLTLRSAHKSKSLKDLVSACGSGGGTDVSMEGMKPEVVETLTPPPSDAGSPSQSSPLSLGSRGSSSGGSDSEPDSPAFEDNQVKAQRLPSHSRGMLDRSRLALCVLVFLCLTCNPLASLFGWGILTPSDASGVHRSSGRSMLEAESRDGSNWTQWLLPPLVWLANGLLVLACLALLFVYGEPVTRPHSGPAVHFWRHRKQADLDLARGDFAQAAQQLWLALQALGRPLPTSNLDLACSLLWNLVRHLLQRLWVGRWLAGQAGGLQRDYRLRKDARASARDAAVVYHKLHQLHAMGKYTGGHLVASNLALSALNLAECAGDAISMATLAEIYVAAALRVKTSLPRALHFLTRFFLSSARQACLAQSGAVPLAMQWLCHPVGHRFFVDGDWAVHGAPQESLYSVAGNPVDPLAQVTRLFCEHLLERALNCIAQPSPGAADGDREFSDALGYLQLLNSCSDAVGAPACSFSVSSSMATTTGTDPVAKWWASLTAVVIHWLRRDEEAAERLYPLVEHIPQVLQETERPLPRAALYSFKAARALLDHRKVESSPASLAICEKASGYLRDSLASTSTASSIDKAMQLLLCDLLLVARTSLWRRQQSAASAQGAHGTSNGPQASALELRGFQHDLSSLRRLAQSFRPAMRRVFLHEATARLMAGASPARTHQLLDRSLRRRAGSSGKGGAAAELEPRPTWREHTEALLLASCYLPPAFLSAPGQRVSMLAEAARTVEKLGDHRLLLDCQQMLLRLGGGTTVTSS", "length": 1110, "header": "sp|P56720-1|SRBP1_RAT Isoform 1 of Sterol regulatory element-binding protein 1 OS=Rattus norvegicus OX=10116 GN=Srebf1 PE=1 SV=3 CANONICAL=P56720-2" }, "locus": { "chromosome": "10", "start_pos": 45019456, "end_pos": 45008532, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000004753", "url": "https://www.ensembl.org/id/ENSRNOT00000004753" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000004753", "url": "https://www.ensembl.org/id/ENSRNOP00000004753" } ] } }, { "isoform_ac": "P56720-2", "url": "", "sequence": { "sequence": "MDELPFGEAALEQALAEVCEMDAALLTDIEDMLQLINNQDSDFPGLFDAPYAGGETGDTGPSSPGASSPESFSSPASLGSSLEAFLGGPKVTPAPLSPPPSAPTAVKMYPSVPPFSPGPGIKEEPVPLTILQPPAPQPSPGTLLPPSFPPPPVQLSPAPVLGYSSLPSGFSGTLPGNTQQTPSSLPLGSTPGISPTPLHTQVQSSAAQQPPPASAAPRMSTVASQIQQVPVVLQPHFIKADSLLLTAVKTDTGATMKTAGINTLAPGTAVQAGPLQTLVSGGTILATVPLVVDTDKLPIHRLAAGGKALGSAQSRGEKRTAHNAIEKRYRSSINDKIVELKDLVVGTEAKLNKSAVLRKAIDYIRFLQHSNQKLKQENLTLRSAHKSKSLKDLVSACGSGGGTDVSMEGMKPEVVETLTPPPSDAGSPSQSSPLSLGSRGSSSGGSDSEPDSPAFEDNQVKAQRLPSHSRGMLDRSRLALCVLVFLCLTCNPLASLFGWGILTPSDASGVHRSSGRSMLEAESRDGSNWTQWLLPPLVWLANGLLVLACLALLFVYGEPVTRPHSGPAVHFWRHRKQADLDLARGDFAQAAQQLWLALQALGRPLPTSNLDLACSLLWNLVRHLLQRLWVGRWLAGQAGGLQRDYRLRKDARASARDAAVVYHKLHQLHAMGKYTGGHLVASNLALSALNLAECAGDAISMATLAEIYVAAALRVKTSLPRALHFLTRFFLSSARQACLAQSGAVPLAMQWLCHPVGHRFFVDGDWAVHGAPQESLYSVAGNPVDPLAQVTRLFCEHLLERALNCIAQPSPGAADGDREFSDALGYLQLLNSCSDAVGAPACSFSVSSSMATTTGTDPVAKWWASLTAVVIHWLRRDEEAAERLYPLVEHIPQVLQETERPLPRAALYSFKAARALLDHRKVESSPASLAICEKASGYLRDSLASTSTASSIDKAMQLLLCDLLLVARTSLWRRQQSAASAQGAHGTSNGPQASALELRGFQHDLSSLRRLAQSFRPAMRRVFLHEATARLMAGASPARTHQLLDRSLRRRAGSSGKGGAAAELEPRPTWREHTEALLLASCYLPPAFLSAPGQRVSMLAEAARTVEKLGDHRLLLDCQQMLLRLGGGTTVTSS", "length": 1134, "header": "sp|P56720-2|SRBP1_RAT Isoform 2 of Sterol regulatory element-binding protein 1 OS=Rattus norvegicus OX=10116 GN=Srebf1 PE=1 SV=3 CANONICAL=P56720-2" }, "locus": { "chromosome": "10", "start_pos": 45029570, "end_pos": 45008532, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000047053", "url": "https://www.ensembl.org/id/ENSRNOT00000047053" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000050057", "url": "https://www.ensembl.org/id/ENSRNOP00000050057" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 1047, "end_pos": 1047, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720" } ], "site_lbl": "Ser1047" }, { "start_pos": 116, "end_pos": 116, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720" } ], "site_lbl": "Ser116" }, { "start_pos": 331, "end_pos": 331, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by SIK1", "evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720" } ], "site_lbl": "Ser331" }, { "start_pos": 332, "end_pos": 332, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by SIK1", "evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720" } ], "site_lbl": "Ser332" }, { "start_pos": 389, "end_pos": 389, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by AMPK", "evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720" } ], "site_lbl": "Ser389" }, { "start_pos": 395, "end_pos": 395, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by SIK1", "evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720" } ], "site_lbl": "Ser395" }, { "start_pos": 448, "end_pos": 448, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "P56720", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P56720" } ], "site_lbl": "Ser448" }, { "start_pos": 73, "end_pos": 73, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P56720", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P56720" }, { "database": "PubMed", "id": "26589965", "url": "https://glygen.org/publication/PubMed/26589965" } ], "site_lbl": "Ser73" }, { "start_pos": 97, "end_pos": 97, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720" }, { "database": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" }, { "database": "iPTMnet", "id": "P56720", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P56720" }, { "database": "PubMed", "id": "26589965", "url": "https://glygen.org/publication/PubMed/26589965" } ], "site_lbl": "Ser97" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Identification of a mutation in ADD1/SREBP-1 in the spontaneously hypertensive rat.", "journal": "Mamm. 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"evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720" } ], "pmid": "" }, { "name": "negative regulation of triglyceride metabolic process", "id": "GO:0090209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090209", "evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720" } ], "pmid": "" }, { "name": "regulation of autophagy of mitochondrion", "id": "GO:1903146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903146", "evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "P56720", "url": "https://www.uniprot.org/uniprot/P56720" } ], "pmid": "" }, { "name": "response to organic cyclic compound", "id": "GO:0014070", "url": 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