{ "uniprot_canonical_ac": "Q9VLV3-1", "uniprot_ac": "Q9VLV3", "uniprot_id": "Q9VLV3_DROME", "mass": { "chemical_mass": 42996.0, "monoisotopic_mass": 42996.0 }, "refseq": {}, "gene_names": [ { "name": "Spn28Db", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9VLV3", "id": "Q9VLV3" }, { "name": "CG12318", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VLV3", "id": "Q9VLV3" }, { "name": "CG33121", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VLV3", "id": "Q9VLV3" }, { "name": "Dmel\\CG33121", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VLV3", "id": "Q9VLV3" }, { "name": "Dmel_CG33121", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VLV3", "id": "Q9VLV3" } ], "protein_names": [ { "name": "Serpin 28Db", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9VLV3" } ], "function": [], "disease": [ { "disease_id": "DOID:0050831", "recommended_name": { "id": "DOID:0050831", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050831", "name": "familial encephalopathy with neuroserpin inclusion bodies", "description": "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern." }, "synonyms": [ { "id": "DOID:0050831", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050831", "name": "FENIB", "description": "" }, { "id": "MONDO:0011412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011412", "name": "familial encephalopathy with neuroserpin inclusion bodies", "description": "" }, { "id": "MONDO:0011412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011412", "name": "FENIB", "description": "" }, { "id": "MONDO:0011412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011412", "name": "encephalopathy, familial, with Collins bodies", "description": "" }, { "id": "MONDO:0011412", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011412", "name": "encephalopathy, familial, with neuroserpin inclusion bodies", "description": "" }, { "id": "MIM:604218", "resource": "MIM", "url": "https://www.omim.org/entry/604218", "name": "Encephalopathy, familial, with neuroserpin inclusion bodies", "description": "Encephalopathy, familial, with neuroserpin inclusion bodies" } ], "evidence": [ { "id": "0050831", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050831" } ] }, { "disease_id": "DOID:0060903", "recommended_name": { "id": "DOID:0060903", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060903", "name": "thrombosis", "description": "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system." }, "synonyms": [], "evidence": [ { "id": "0060903", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060903" } ] }, { "disease_id": "DOID:10159", "recommended_name": { "id": "DOID:10159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10159", "name": "osteonecrosis", "description": "An ischemic bone disease that results_in necrosis located_in bone." }, "synonyms": [ { "id": "DOID:10159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10159", "name": "Avascular necrosis of bone", "description": "" }, { "id": "DOID:10159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10159", "name": "aseptic necrosis", "description": "" }, { "id": "DOID:10159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10159", "name": "bone necrosis", "description": "" } ], "evidence": [ { "id": "10159", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10159" } ] }, { "disease_id": "DOID:10652", "recommended_name": { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/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." }, "synonyms": [ { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer disease", "description": "" }, { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimers dementia", "description": "" } ], "evidence": [ { "id": "10652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ] }, { "disease_id": "DOID:10763", "recommended_name": { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hypertension", "description": "An artery disease characterized by chronic elevated blood pressure in the arteries." }, "synonyms": [ { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "HTN", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "hyperpiesia", "description": "" }, { "id": "DOID:10763", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10763", "name": "vascular hypertensive disorder", "description": "" } ], "evidence": [ { "id": "10763", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10763" } ] }, { "disease_id": "DOID:11247", "recommended_name": { "id": "DOID:11247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11247", "name": "disseminated intravascular coagulation", "description": "" }, "synonyms": [ { "id": "DOID:11247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11247", "name": "DIC", "description": "" }, { "id": "DOID:11247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11247", "name": "Defibrination syndrome", "description": "" }, { "id": "DOID:11247", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11247", "name": "Diffuse or disseminated intravascular coagulation", "description": "" } ], "evidence": [ { "id": "11247", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11247" } ] }, { "disease_id": "DOID:1184", "recommended_name": { "id": "DOID:1184", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1184", "name": "nephrotic syndrome", "description": "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability." }, "synonyms": [], "evidence": [ { "id": "1184", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1184" } ] }, { "disease_id": "DOID:14115", "recommended_name": { "id": "DOID:14115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14115", "name": "toxic shock syndrome", "description": "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities." }, "synonyms": [ { "id": "DOID:14115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14115", "name": "TSS", "description": "" }, { "id": "DOID:14115", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14115", "name": "toxic shock", "description": "" } ], "evidence": [ { "id": "14115", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14115" } ] }, { "disease_id": "DOID:3021", "recommended_name": { "id": "DOID:3021", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3021", "name": "acute kidney failure", "description": "" }, "synonyms": [], "evidence": [ { "id": "3021", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3021" } ] }, { "disease_id": "DOID:3755", "recommended_name": { "id": "DOID:3755", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3755", "name": "antithrombin III deficiency", "description": "A thrombophilia that is characterized by the tendency to form clots in the veins." }, "synonyms": [ { "id": "DOID:3755", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3755", "name": "AT III deficiency", "description": "" }, { "id": "DOID:3755", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3755", "name": "hereditary thrombophilia due to congenital antithrombin deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "hereditary antithrombin deficiency", "description": "A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins)." }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "AT III deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "AT3D", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "antithrombin 3 deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "antithrombin III deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "congenital AT-III deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "congenital antithrombin III deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "hereditary antithrombin deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "hereditary thrombophilia due to congenital antithrombin 3 deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "hereditary thrombophilia due to congenital antithrombin deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "inherited antithrombin deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "thrombophilia 7 due to antithrombin III deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "thrombophilia due to antithrombin 3 deficiency", "description": "" }, { "id": "MONDO:0013144", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013144", "name": "thrombophilia due to antithrombin III deficiency", "description": "" }, { "id": "MIM:613118", "resource": "MIM", "url": "https://www.omim.org/entry/613118", "name": "Antithrombin III deficiency", "description": "Antithrombin III deficiency" } ], "evidence": [ { "id": "3755", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3755" } ] }, { "disease_id": "DOID:4724", "recommended_name": { "id": "DOID:4724", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4724", "name": "brain edema", "description": "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma." }, "synonyms": [ { "id": "DOID:4724", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4724", "name": "intracranial swelling", "description": "" }, { "id": "DOID:4724", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4724", "name": "wet brain", "description": "" } ], "evidence": [ { "id": "4724", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4724" } ] }, { "disease_id": "DOID:8805", "recommended_name": { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "intermediate coronary syndrome", "description": "" }, "synonyms": [ { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Angina at rest", "description": "" }, { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Anginal chest pain at rest", "description": "" }, { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Impending infarction", "description": "" }, { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Preinfarction angina", "description": "" }, { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Unstable angina", "description": "" }, { "id": "DOID:8805", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8805", "name": "Worsening angina", "description": "" } ], "evidence": [ { "id": "8805", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8805" } ] }, { "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": 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