{ "uniprot_canonical_ac": "Q9V3N1-1", "uniprot_ac": "Q9V3N1", "uniprot_id": "SP27A_DROME", "mass": { "chemical_mass": 49795.0, "monoisotopic_mass": 49795.0 }, "refseq": { "ac": "NP_001260143", "name": "serpin 27A, isoform B", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260143" }, "gene_names": [ { "name": "Spn27A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9V3N1", "id": "Q9V3N1" }, { "name": "CG11331; Dm-Spn27A; Dmel\\CG11331; EST1; sp27A; Sp27A; Spn27; spn27A; Spn27a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260143", "id": "NP_001260143" }, { "name": "CG11331", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9V3N1", "id": "Q9V3N1" }, { "name": "Spn27A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260143", "id": "NP_001260143" } ], "protein_names": [ { "name": "Serine protease inhibitor 27A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9V3N1" }, { "name": "CG11331-PB; Spn27A-PB; serpin 27A; Dm-serpin-27A; Serpin-27A; Serpin27A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260143", "id": "NP_001260143" }, { "name": "Serpin 27A", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9V3N1" }, { "name": "serpin 27A, isoform B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260143", "id": "NP_001260143" } ], "function": [ { "annotation": "Serine protease inhibitor that functions in embryonic dorsoventral patterning and the melanization immune response (PubMed:14654000, PubMed:14667416, PubMed:12408809, PubMed:12456640, PubMed:16861233, PubMed:16322759, PubMed:18801354, PubMed:22227521, PubMed:24260243, PubMed:24788090). Regulates dorsoventral axis formation during early development by inhibiting the serine protease easter, and is therefore important for restricting activity of the Toll signaling pathway to the ventral part of the embryo (PubMed:14654000, PubMed:14667416). Also plays an essential role in the melanization immune response to both physical wounding and septic infection using certain bacteria and fungi (PubMed:12408809, PubMed:12456640, PubMed:18801354, PubMed:22227521). Negatively regulates the Hayan-dependent prophenoloxidase 1 (PPO1)-activating cascade in the hemolymph by inhibiting the serine proteases MP1 and Sp7 (PubMed:12408809, PubMed:12456640, PubMed:16861233, PubMed:16322759, PubMed:18801354, PubMed:22227521, PubMed:24260243, PubMed:24788090). May be involved in negatively regulating the melanotic encapsulation around eggs of the parasite L. boulardi (PubMed:12408809, PubMed:15749104).", "evidence": [ { "database": "UniProtKB", "id": "Q9V3N1", "url": "https://www.uniprot.org/uniprot/Q9V3N1#function" }, { "database": "PubMed", "id": "15749104", "url": "https://glygen.org/publication/PubMed/15749104" }, { "database": "PubMed", "id": "22227521", "url": "https://glygen.org/publication/PubMed/22227521" }, { "database": "PubMed", "id": "16861233", "url": "https://glygen.org/publication/PubMed/16861233" }, { "database": "PubMed", "id": "16322759", "url": "https://glygen.org/publication/PubMed/16322759" }, { "database": "PubMed", "id": "14654000", "url": "https://glygen.org/publication/PubMed/14654000" }, { "database": "PubMed", "id": "18801354", "url": "https://glygen.org/publication/PubMed/18801354" }, { "database": "PubMed", "id": "24788090", "url": "https://glygen.org/publication/PubMed/24788090" }, { "database": "PubMed", "id": "12408809", "url": "https://glygen.org/publication/PubMed/12408809" }, { "database": "PubMed", "id": "12456640", "url": "https://glygen.org/publication/PubMed/12456640" }, { "database": "PubMed", "id": "14667416", "url": "https://glygen.org/publication/PubMed/14667416" }, { "database": "PubMed", "id": "24260243", "url": "https://glygen.org/publication/PubMed/24260243" } ] } ], "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:1168", "recommended_name": { "id": "DOID:1168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1168", "name": "familial hyperlipidemia", "description": "" }, "synonyms": [ { "id": "DOID:1168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1168", "name": "familial hyperlipoproteinemia", "description": "" }, { "id": "DOID:1168", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1168", "name": "hyperlipemia", "description": "" } ], "evidence": [ { "id": "1168", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1168" } ] }, { "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:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "evidence": [ { "id": "2394", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "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": 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RG, Champe M, Pfeiffer BD, Wan KH, Doyle C, Baxter EG, Helt G, Nelson CR, Gabor GL, Abril JF, Agbayani A, An HJ, Andrews-Pfannkoch C, Baldwin D, Ballew RM, Basu A, Baxendale J, Bayraktaroglu L, Beasley EM, Beeson KY, Benos PV, Berman BP, Bhandari D, Bolshakov S, Borkova D, Botchan MR, Bouck J, Brokstein P, Brottier P, Burtis KC, Busam DA, Butler H, Cadieu E, Center A, Chandra I, Cherry JM, Cawley S, Dahlke C, Davenport LB, Davies P, de Pablos B, Delcher A, Deng Z, Mays AD, Dew I, Dietz SM, Dodson K, Doup LE, Downes M, Dugan-Rocha S, Dunkov BC, Dunn P, Durbin KJ, Evangelista CC, Ferraz C, Ferriera S, Fleischmann W, Fosler C, Gabrielian AE, Garg NS, Gelbart WM, Glasser K, Glodek A, Gong F, Gorrell JH, Gu Z, Guan P, Harris M, Harris NL, Harvey D, Heiman TJ, Hernandez JR, Houck J, Hostin D, Houston KA, Howland TJ, Wei MH, Ibegwam C, Jalali M, Kalush F, Karpen GH, Ke Z, Kennison JA, Ketchum KA, Kimmel BE, Kodira CD, Kraft C, Kravitz S, Kulp D, Lai Z, Lasko P, Lei Y, Levitsky AA, Li J, Li Z, Liang Y, Lin X, Liu X, Mattei B, McIntosh TC, McLeod MP, McPherson D, Merkulov G, Milshina NV, Mobarry C, Morris J, Moshrefi A, Mount SM, Moy M, Murphy B, Murphy L, Muzny DM, Nelson DL, Nelson DR, Nelson KA, Nixon K, Nusskern DR, Pacleb JM, Palazzolo M, Pittman GS, Pan S, Pollard J, Puri V, Reese MG, Reinert K, Remington K, Saunders RD, Scheeler F, Shen H, Shue BC, Siden-Kiamos I, Simpson M, Skupski MP, Smith T, Spier E, Spradling AC, Stapleton M, Strong R, Sun E, Svirskas R, Tector C, Turner R, Venter E, Wang AH, Wang X, Wang ZY, Wassarman DA, Weinstock GM, Weissenbach J, Williams SM, WoodageT, Worley KC, Wu D, Yang S, Yao QA, Ye J, Yeh RF, Zaveri JS, Zhan M, Zhang G, Zhao Q, Zheng L, Zheng XH, Zhong FN, Zhong W, Zhou X, Zhu S, Zhu X, Smith HO, Gibbs RA, Myers EW, Rubin GM, Venter JC", "evidence": [ { "database": "UniProtKB", "id": "Q9V3N1", "url": "https://www.uniprot.org/uniprot/Q9V3N1" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "Activation of a protease cascade involved in patterning the Drosophila embryo.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2001", "authors": "LeMosy EK, Tan YQ, Hashimoto C", "evidence": [ { "database": "Reactome", "id": "R-DME-209442", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209442" } ], "reference": [ { "type": "PubMed", "id": "11296245", "url": "https://glygen.org/publication/PubMed/11296245" } ] }, { "title": "Autoproteolysis and feedback in a protease cascade directing Drosophila dorsal-ventral cell fate.", "journal": "The EMBO journal", "date": "2001", "authors": "Dissing M, Giordano H, DeLotto R", "evidence": [ { "database": "Reactome", "id": "R-DME-209442", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209442" } ], "reference": [ { "type": "PubMed", "id": "11350927", "url": "https://glygen.org/publication/PubMed/11350927" } ] }, { "title": "Gastrulation defective, a complement factor C2/B-like protease, interprets a ventral prepattern in Drosophila.", "journal": "EMBO reports", "date": "2001", "authors": "DeLotto R", "evidence": [ { "database": "Reactome", "id": "R-DME-209442", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209442" } ], "reference": [ { "type": "PubMed", "id": "11493599", "url": "https://glygen.org/publication/PubMed/11493599" } ] }, { "title": "An immune-responsive Serpin regulates the melanization cascade in Drosophila.", "journal": "Dev. Cell", "date": "2002", "authors": "De Gregorio E, Han SJ, Lee WJ, Baek MJ, Osaki T, Kawabata S, Lee BL, Iwanaga S, Lemaitre B, Brey PT", "evidence": [ { "database": "UniProtKB", "id": "Q9V3N1", "url": "https://www.uniprot.org/uniprot/Q9V3N1" } ], "reference": [ { "type": "PubMed", "id": "12408809", "url": "https://glygen.org/publication/PubMed/12408809" } ] }, { "title": "A serpin mutant links Toll activation to melanization in the host defence of Drosophila.", "journal": "EMBO J.", "date": "2002", "authors": "Ligoxygakis P, Pelte N, Ji C, Leclerc V, Duvic B, Belvin M, Jiang H, Hoffmann JA, Reichhart JM", "evidence": [ { "database": "UniProtKB", "id": "Q9V3N1", "url": "https://www.uniprot.org/uniprot/Q9V3N1" } ], "reference": [ { "type": "PubMed", "id": "12456640", "url": "https://glygen.org/publication/PubMed/12456640" } ] }, { "title": "Three-dimensional models of proteases involved in patterning of the Drosophila Embryo. Crucial role of predicted cation binding sites.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Rose T, LeMosy EK, Cantwell AM, Banerjee-Roy D, Skeath JB, Di Cera E", "evidence": [ { "database": "Reactome", "id": "R-DME-209442", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209442" } ], "reference": [ { "type": "PubMed", "id": "12493753", "url": "https://glygen.org/publication/PubMed/12493753" } ] }, { "title": "Annotation of the Drosophila melanogaster euchromatic genome: a systematic review.", "journal": "Genome Biol.", "date": "2002", "authors": "Misra S, Crosby MA, Mungall CJ, Matthews BB, Campbell KS, Hradecky P, Huang Y, Kaminker JS, Millburn GH, Prochnik SE, Smith CD, Tupy JL, Whitfied EJ, Bayraktaroglu L, Berman BP, Bettencourt BR, Celniker SE, de Grey AD, Drysdale RA, Harris NL, Richter J, Russo S, Schroeder AJ, Shu SQ, Stapleton M, Yamada C, Ashburner M, Gelbart WM, Rubin GM, Lewis SE", "evidence": [ { "database": "UniProtKB", "id": "Q9V3N1", "url": "https://www.uniprot.org/uniprot/Q9V3N1" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] }, { "title": "Binding of the Drosophila cytokine Spatzle to Toll is direct and establishes signaling.", "journal": "Nature immunology", "date": "2003", "authors": "Weber AN, Tauszig-Delamasure S, Hoffmann JA, Lelievre E, Gascan H, Ray KP, Morse MA, Imler JL, Gay NJ", "evidence": [ { "database": "Reactome", "id": "R-DME-209442", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209442" } ], "reference": [ { "type": "PubMed", "id": "12872120", "url": "https://glygen.org/publication/PubMed/12872120" } ] }, { "title": "A serpin regulates dorsal-ventral axis formation in the Drosophila embryo.", "journal": "Curr. Biol.", "date": "2003", "authors": "Roth S., Reichhart J.M., Ligoxygakis P.", "evidence": [ { "database": "UniProtKB", "id": "Q9V3N1", "url": "https://www.uniprot.org/uniprot/Q9V3N1" } ], "reference": [ { "type": "PubMed", "id": "14654000", "url": "https://glygen.org/publication/PubMed/14654000" } ] }, { "title": "Spatial regulation of developmental signaling by a serpin.", "journal": "Dev. Cell", "date": "2003", "authors": "Hashimoto C, Kim DR, Weiss LA, Miller JW, Morisato D", "evidence": [ { "database": "UniProtKB", "id": "Q9V3N1", "url": "https://www.uniprot.org/uniprot/Q9V3N1" }, { "database": "Reactome", "id": "R-DME-209442", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209442" } ], "reference": [ { "type": "PubMed", "id": "14667416", "url": "https://glygen.org/publication/PubMed/14667416" } ] }, { "title": "Regulated assembly of the Toll signaling complex drives Drosophila dorsoventral patterning.", "journal": "The EMBO journal", "date": "2004", "authors": "Sun H, Towb P, Chiem DN, Foster BA, Wasserman SA", "evidence": [ { "database": "Reactome", "id": "R-DME-209442", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209442" } ], "reference": [ { "type": "PubMed", "id": "14685264", "url": "https://glygen.org/publication/PubMed/14685264" } ] }, { "title": "Multimerization and interaction of Toll and Spatzle in Drosophila.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Hu X, Yagi Y, Tanji T, Zhou S, Ip YT", "evidence": [ { "database": "Reactome", "id": "R-DME-209442", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209442" } ], "reference": [ { "type": "PubMed", "id": "15197269", "url": "https://glygen.org/publication/PubMed/15197269" } ] }, { "title": "Drosophila serpin 27A is a likely target for immune suppression of the blood cell-mediated melanotic encapsulation response.", "journal": "J. Insect Physiol.", "date": "2005", "authors": "Carton Y., Frey F., Nappi A.J.", "evidence": [ { "database": "UniProtKB", "id": "Q9V3N1", "url": "https://www.uniprot.org/uniprot/Q9V3N1" } ], "reference": [ { "type": "PubMed", "id": "15749104", "url": "https://glygen.org/publication/PubMed/15749104" } ] }, { "title": "Ligand-receptor and receptor-receptor interactions act in concert to activate signaling in the Drosophila toll pathway.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Weber AN, Moncrieffe MC, Gangloff M, Imler JL, Gay NJ", "evidence": [ { "database": "Reactome", "id": "R-DME-209442", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209442" } ], "reference": [ { "type": "PubMed", "id": "15795223", "url": "https://glygen.org/publication/PubMed/15795223" } ] }, { "title": "Prophenoloxidase activation is not required for survival to microbial infections in Drosophila.", "journal": "EMBO Rep.", "date": "2006", "authors": "El Chamy L., Hoffmann J.A., Reichhart J.M., Pelte N., Ligoxygakis P., Leclerc V., Martinelli C.", "evidence": [ { "database": "UniProtKB", "id": "Q9V3N1", "url": "https://www.uniprot.org/uniprot/Q9V3N1" } ], "reference": [ { "type": "PubMed", "id": "16322759", "url": "https://glygen.org/publication/PubMed/16322759" } ] }, { "title": "A Spatzle-processing enzyme required for toll signaling activation in Drosophila innate immunity.", "journal": "Developmental cell", "date": "2006", "authors": "Jang IH, Chosa N, Kim SH, Nam HJ, Lemaitre B, Ochiai M, Kambris Z, Brun S, Hashimoto C, Ashida M, Brey PT, Lee WJ", "evidence": [ { "database": "Reactome", "id": "R-DME-209442", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209442" } ], "reference": [ { "type": "PubMed", "id": "16399077", "url": "https://glygen.org/publication/PubMed/16399077" } ] }, { "title": "Two proteases defining a melanization cascade in the immune system of Drosophila.", "journal": "J. Biol. Chem.", "date": "2006", "authors": "Tang H., Hashimoto C., Lemaitre B., Kambris Z.", "evidence": [ { "database": "UniProtKB", "id": "Q9V3N1", "url": "https://www.uniprot.org/uniprot/Q9V3N1" } ], "reference": [ { "type": "PubMed", "id": "16861233", "url": "https://glygen.org/publication/PubMed/16861233" } ] }, { "title": "Expression and regulation of Spatzle-processing enzyme in Drosophila.", "journal": "FEBS letters", "date": "2006", "authors": "Mulinari S, Hacker U, Castillejo-Lopez C", "evidence": [ { "database": "Reactome", "id": "R-DME-209442", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209442" } ], "reference": [ { "type": "PubMed", "id": "16996061", "url": "https://glygen.org/publication/PubMed/16996061" } ] }, { "title": "Role of the Spatzle Pro-domain in the generation of an active toll receptor ligand.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Weber AN, Gangloff M, Moncrieffe MC, Hyvert Y, Imler JL, Gay NJ", "evidence": [ { "database": "Reactome", "id": "R-DME-209442", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209442" } ], "reference": [ { "type": "PubMed", "id": "17324925", "url": "https://glygen.org/publication/PubMed/17324925" } ] }, { "title": "Structural insight into the mechanism of activation of the Toll receptor by the dimeric ligand Spatzle.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Gangloff M, Murali A, Xiong J, Arnot CJ, Weber AN, Sandercock AM, Robinson CV, Sarisky R, Holzenburg A, Kao C, Gay NJ", "evidence": [ { "database": "Reactome", "id": "R-DME-209442", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-209442" } ], "reference": [ { "type": "PubMed", "id": "18347020", "url": "https://glygen.org/publication/PubMed/18347020" } ] }, { "title": "Drosophila Serpin-28D regulates hemolymph phenoloxidase activity and adult pigmentation.", "journal": "Dev. Biol.", "date": "2008", "authors": "Scherfer C, Tang H, Kambris Z, Lhocine N, Hashimoto C, Lemaitre B", "evidence": [ { "database": "UniProtKB", "id": "Q9V3N1", "url": "https://www.uniprot.org/uniprot/Q9V3N1" } ], "reference": [ { "type": "PubMed", "id": "18801354", "url": "https://glygen.org/publication/PubMed/18801354" } ] }, { "title": "Genetic evidence of a redox-dependent systemic wound response via Hayan protease-phenoloxidase system in Drosophila.", "journal": "EMBO J.", "date": "2012", "authors": "Lee K.A., Nam H.J., Lee W.J., You H., Jang I.H.", "evidence": [ { "database": "UniProtKB", "id": "Q9V3N1", "url": "https://www.uniprot.org/uniprot/Q9V3N1" } ], "reference": [ { "type": "PubMed", "id": "22227521", "url": "https://glygen.org/publication/PubMed/22227521" } ] }, { "title": "Serine protease MP2 activates prophenoloxidase in the melanization immune response of Drosophila melanogaster.", "journal": "PLoS ONE", "date": "2013", "authors": "Zhang M., Zhao Z., Chu Y., An C.", 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