{ "uniprot_canonical_ac": "Q9W5Y0-1", "uniprot_ac": "Q9W5Y0", "uniprot_id": "NEP3_DROME", "mass": { "chemical_mass": 89759.0, "monoisotopic_mass": 89759.0 }, "refseq": { "ac": "NP_001245775", "name": "neprilysin 3, isoform B", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245775" }, "gene_names": [ { "name": "Nep3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9W5Y0", "id": "Q9W5Y0" }, { "name": "CEC; CG9565; Dmel\\CG9565; DmeNEP3; dNEP3; nep3; NEP3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245775", "id": "NP_001245775" }, { "name": "CG9565", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9W5Y0", "id": "Q9W5Y0" }, { "name": "Nep3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245775", "id": "NP_001245775" } ], "protein_names": [ { "name": "Neprilysin-3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9W5Y0" }, { "name": "3.4.24.11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9W5Y0" }, { "name": "CG9565-PB; Nep3-PB; neprilysin 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245775", "id": "NP_001245775" }, { "name": "neprilysin 3, isoform B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245775", "id": "NP_001245775" } ], "function": [ { "annotation": "Metalloendoprotease which is required in the dorsal paired medial neurons for the proper formation of long-term (LTM) and middle-term memories (MTM). Also required in the mushroom body neurons where it functions redundantly with neprilysins Nep2 and Nep4 in normal LTM formation.", "evidence": [ { "database": "UniProtKB", "id": "Q9W5Y0", "url": "https://www.uniprot.org/uniprot/Q9W5Y0#function" }, { "database": "PubMed", "id": "27629706", "url": "https://glygen.org/publication/PubMed/27629706" } ] } ], "disease": [ { "disease_id": "DOID:0050855", "recommended_name": { "id": "DOID:0050855", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050855", "name": "renal fibrosis", "description": "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function." }, "synonyms": [], "evidence": [ { "id": "0050855", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050855" } ] }, { "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:10825", "recommended_name": { "id": "DOID:10825", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10825", "name": "essential hypertension", "description": "A hypertension with no known cause. It is the most common type of hypertension." }, "synonyms": [ { "id": "DOID:10825", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10825", "name": "idiopathic hypertension", "description": "" }, { "id": "DOID:10825", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10825", "name": "primary hypertension", "description": "" }, { "id": "MONDO:0011384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011384", "name": "hypertension, essential, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011384", "name": "hypertension, essential, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011384", "name": "hypertension, essential, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011384", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011384", "name": "Hyt1", "description": "" }, { "id": "MONDO:0011815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011815", "name": "hypertension, essential, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011815", "name": "hypertension, essential, susceptibility to, 3", "description": "" }, { "id": "MONDO:0011815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011815", "name": "hypertension, essential, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0011815", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011815", "name": "Hyt3", "description": "" }, { "id": "MONDO:0011440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011440", "name": "hypertension, essential, susceptibility to, 2", "description": "" }, { "id": "MONDO:0011440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011440", "name": "hypertension, essential, susceptibility to, 2", "description": "" }, { "id": "MONDO:0011440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011440", "name": "hypertension, essential, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0011440", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011440", "name": "Hyt2", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "hypertension, essential, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "hypertension, essential, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "hypertension, essential, susceptibility to, type 5", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "Hyt5", "description": "" }, { "id": "MONDO:0012458", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012458", "name": "hypertension, essential, body Mass-related", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "essential hypertension, genetic", "description": "An instance of essential hypertension that is caused by a modification of the individual's genome." }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "blood pressure regulation QTL", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "genetic essential hypertension", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, salt-sensitive", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 2", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 3", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 4", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 5", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 6", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, susceptibility to", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "EHT", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, essential, susceptibility to, 1", "description": "" }, { "id": "MONDO:0007781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007781", "name": "hypertension, salt-sensitive essential, susceptibility to", "description": "" }, { "id": "MONDO:0012587", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012587", "name": "hypertension, essential, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012587", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012587", "name": "hypertension, essential, susceptibility to, 7", "description": "" }, { "id": "MONDO:0012587", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012587", "name": "hypertension, essential, susceptibility to, type 7", "description": "" }, { "id": "MONDO:0012587", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012587", "name": "Hyt7", "description": "" }, { "id": "MONDO:0012599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012599", "name": "hypertension, essential, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012599", "name": "HYT8", "description": "" }, { "id": "MONDO:0012599", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012599", "name": "hypertension, essential, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012109", "name": "hypertension, essential, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012109", "name": "hypertension, essential, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012109", "name": "hypertension, essential, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012109", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012109", "name": "Hyt4", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "hypertension, essential, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "hypertension, essential, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "hypertension, essential, susceptibility to, type 6", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "Hyt6", "description": "" }, { "id": "MONDO:0012459", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012459", "name": "hypertension, essential, kidney function-related", "description": "" }, { "id": "MIM:145500", "resource": "MIM", "url": "https://www.omim.org/entry/145500", "name": "Essential hypertension", "description": "Essential hypertension" } ], "evidence": [ { "id": "10825", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10825" } ] }, { "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:12930", "recommended_name": { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "dilated cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently." }, "synonyms": [ { "id": "DOID:12930", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12930", "name": "primary dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase." }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy dilated with conduction defect type 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy type 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "dilated cardiomyopathy with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial dilated cardiomyopathy with conduction defect due to LMNA mutation", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "familial isolated dilated cardiomyopathy caused by mutation in LMNA", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, congestive", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, 1A", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MIM:115200", "resource": "MIM", "url": "https://www.omim.org/entry/115200", "name": "Cardiomyopathy, dilated, 1A", "description": "Cardiomyopathy, dilated, 1A" } ], "evidence": [ { "id": "12930", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12930" } ] }, { "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:3393", "recommended_name": { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary artery disease", "description": "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles." }, "synonyms": [ { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "CHD", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "Coronary disease", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary arteriosclerosis", "description": "" }, { "id": "DOID:3393", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3393", "name": "coronary heart disease", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "coronary heart disease, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012010", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012010", "name": "Chds4", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "coronary heart disease, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012009", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012009", "name": "Chds2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "KHDC3L complete hydatidiform mole", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "complete hydatidiform mole caused by mutation in KHDC3L", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, recurrent, type 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform mole, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "HYDM2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform MOLE, recurrent, 2", "description": "" }, { "id": "MONDO:0013671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013671", "name": "hydatidiform Mole, complete", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "CX3CR1 coronary artery disease", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease caused by mutation in CX3CR1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary artery disease, resistance to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "coronary heart disease, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0011817", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011817", "name": "Chds1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "MEF2A coronary artery disease", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease caused by mutation in MEF2A", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease, autosomal dominant, type 1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "ADCAD1", "description": "" }, { "id": "MONDO:0012011", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012011", "name": "coronary artery disease with myocardial infarction", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "LRP6 coronary artery disease", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease caused by mutation in LRP6", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant type 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "coronary artery disease, autosomal dominant, 2", "description": "" }, { "id": "MONDO:0012586", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012586", "name": "ADCAD2", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "CHDS9", "description": "" }, { "id": "MONDO:0012788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012788", "name": "coronary heart disease, susceptibility to, 9", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "coronary heart disease, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0010331", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010331", "name": "Chds3", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "CHDS8", "description": "" }, { "id": "MONDO:0012628", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012628", "name": "coronary heart disease, susceptibility to, 8", "description": "" }, { "id": "MIM:614293", "resource": "MIM", "url": "https://www.omim.org/entry/614293", "name": "Hydatidiform mole, recurrent, 2", "description": "Hydatidiform mole, recurrent, 2" }, { "id": "MIM:608320", "resource": "MIM", "url": "https://www.omim.org/entry/608320", "name": "Coronary artery disease, autosomal dominant, 1", "description": "Coronary artery disease, autosomal dominant, 1" }, { "id": "MIM:610947", "resource": "MIM", "url": "https://www.omim.org/entry/610947", "name": "Coronary artery disease, autosomal dominant, 2", "description": "Coronary artery disease, autosomal dominant, 2" } ], "evidence": [ { "id": "3393", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3393" } ] }, { "disease_id": "DOID:5844", "recommended_name": { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia." }, "synonyms": [ { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "Myocardial infarct", "description": "" }, { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "heart attack", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "Mci2", "description": "" } ], "evidence": [ { "id": "5844", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ] }, { "disease_id": "DOID:6000", "recommended_name": { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "congestive heart failure", "description": "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body." }, "synonyms": [ { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "CHF", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Cardiac Failure Congestive", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Congestive heart disease", "description": "" }, { "id": "DOID:6000", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6000", "name": "Weak heart", "description": "" } ], "evidence": [ { "id": "6000", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6000" } ] }, { "disease_id": "DOID:6406", "recommended_name": { "id": "DOID:6406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6406", "name": "double outlet right ventricle", "description": "" }, "synonyms": [ { "id": "DOID:6406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6406", "name": "Double outlet right ventricle with subpulmonary ventricular septal defect", "description": "" }, { "id": "DOID:6406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6406", "name": "Dextrotransposition of aorta", "description": "" }, { "id": "DOID:6406", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6406", "name": "Taussig-Bing syndrome or defect", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "conotruncal heart malformations", "description": "Conotruncal heart malformations are a group of congenital cardiac outflow tract anomalies that include such defects as tetralogy of Fallot, pulmonary atresia with ventricular septal defect, double-outlet right ventricle (DORV), double-outlet left ventricle, truncus arteriosus and transposition of the great arteries (TGA), among others. This group of defects is frequently found in patients with 22q11.2 deletion syndrome. A deletion of chromosome 22q11.2 has equally been associated in a subset of patients with various types of isolated non-syndromic conotruncal heart malformations (with the exception of DORV and TGA where this is very uncommon)." }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "Taussig-Bing syndrome or defect", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "conotruncal heart malformations", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "conotruncal heart malformations, variable", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "CTHM", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "Double-outlet right ventricle", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "conotruncal anomaly face syndrome", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "conotruncal cardiac defects", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "interrupted aortic Arch", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "persistent truncus arteriosus", "description": "" }, { "id": "MONDO:0016581", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016581", "name": "truncus arteriosus communis", "description": "" }, { "id": "MIM:217095", "resource": "MIM", "url": "https://www.omim.org/entry/217095", "name": "Conotruncal heart malformations", "description": "Conotruncal heart malformations" } ], "evidence": [ { "id": "6406", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6406" } ] }, { "disease_id": "DOID:6432", "recommended_name": { "id": "DOID:6432", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6432", "name": "pulmonary hypertension", "description": "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries." }, "synonyms": [], "evidence": [ { "id": "6432", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6432" } ] }, { "disease_id": "DOID:9279", "recommended_name": { "id": "DOID:9279", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood." }, "synonyms": [ { "id": "MONDO:0004743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004743", "name": "hyperhomocysteinemia", "description": "A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents." }, { "id": "MONDO:0004743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004743", "name": "homocysteinemia", "description": "" }, { "id": "MONDO:0004743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004743", "name": "hyperhomocysteinemia", "description": "" } ], "evidence": [ { "id": "9279", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W5Y0", "url": "https://www.uniprot.org/uniprot/Q9W5Y0" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "Nep3", "url": "https://www.uniprot.org/uniprot/Q9W5Y0", "locus": { "chromosome": "X", "start_pos": 19969323, "end_pos": 19961297, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0031081", "url": "https://www.ensembl.org/id/FBgn0031081" } ] } } ], "crossref": [ { "id": "FBgn0031081", "url": "https://bgee.org/?page=gene&gene_id=FBgn0031081", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd08662", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd08662", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBgn0031081", "url": "https://flybase.org/reports/FBgn0031081", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "33005", "url": "https://www.ncbi.nlm.nih.gov/gene/33005", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q9W5Y0", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9W5Y0*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000718", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000718", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008753", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008753", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018497", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018497", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024079", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024079", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042089", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042089", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG9565", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG9565", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "FGWAQVW", "url": "https://omabrowser.org/oma/group/FGWAQVW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "202716at2759", "url": "http://www.orthodb.org/?query=202716at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11733", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11733", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11733:SF130", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11733:SF130", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01431", "url": "http://pfam.xfam.org/family/PF01431", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF05649", "url": "http://pfam.xfam.org/family/PF05649", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q9W5Y0", "url": "http://purl.obolibrary.org/obo/PR_Q9W5Y0", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001245775", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001245775", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q9W5Y0", "url": "https://www.uniprot.org/uniprot/Q9W5Y0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9W5Y0-1", "url": "https://www.uniprot.org/uniprot/Q9W5Y0-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MTRYKQTEFTEDDSSSIGGIQLNEATGHTGMQIRYHTARATWNWRSRNKTEKWLLITTFVMAITIFTLLIVLFTDGGSSDATKHVLHVQPHQKDCPSGNELPCLNKHCIFASSEILKSIDVTVDPCDDFYGYSCNQWIKNNPIPEGKSTWGTFGKLEQMNQLIIRNVLEKPAKSFKSDAERKAKVYYESCLDADEHMEKLGAKPMNDLLLQIGGWNVTKSGYNVANWTMGHTLKILHNKYNFNCLFGWAIGEDDKNSSRHVIQIDQGGLTLPTADYYNNKTDNHRKVLNEYIEYMTKVCVLLGANESDARAQMIGVINFEKKLANITIPLEDRRNEEAMYHPMQLRQLSKLAPFLNWTDHFDNAMQMVGRRVTDDEVVVVYAPDFLKNLSDIILKMEQTEEGKITLNNYLVWQAVRTLTSCLSKPFRDAYKGVRKALMGSDGGEEIWRYCVSDTNNVVGFAVGAIFVRQAFHGESKPAAEQMIAEIREAFKMNLQNLTWVDKQTREKAIEKANQISDMIGFPDYILDPVELDKKYAELNITPNAYFENNIQVAIYNLKSNLKRLDQPVNKTNWGMTPQTVNAYYTPTKNQIVFPAGILQTPFFDINNPKSLNFGAMGVVMGHELTHAFDDQGREYDKFGNINRWWDSKSIERFNEKSECIARQYSGYKMNGRTLNGKQTLGENIADNGGLKAAYHAYQRTKSDRDVDILKLPGLNLTHSQLFFVSFAQVWCSSTTDETNLLQMEKDPHSPSQFRVIGTLSNMKEFAEVFQCKPGKRMNPTEKCEVW", "length": 786, "header": "sp|Q9W5Y0-1|NEP3_DROME Isoform 1 of Neprilysin-3 OS=Drosophila melanogaster OX=7227 GN=Nep3 PE=2 SV=2 CANONICAL=Q9W5Y0-1" }, "isoforms": [ { "isoform_ac": "Q9W5Y0-1", "url": "", "sequence": { "sequence": "MTRYKQTEFTEDDSSSIGGIQLNEATGHTGMQIRYHTARATWNWRSRNKTEKWLLITTFVMAITIFTLLIVLFTDGGSSDATKHVLHVQPHQKDCPSGNELPCLNKHCIFASSEILKSIDVTVDPCDDFYGYSCNQWIKNNPIPEGKSTWGTFGKLEQMNQLIIRNVLEKPAKSFKSDAERKAKVYYESCLDADEHMEKLGAKPMNDLLLQIGGWNVTKSGYNVANWTMGHTLKILHNKYNFNCLFGWAIGEDDKNSSRHVIQIDQGGLTLPTADYYNNKTDNHRKVLNEYIEYMTKVCVLLGANESDARAQMIGVINFEKKLANITIPLEDRRNEEAMYHPMQLRQLSKLAPFLNWTDHFDNAMQMVGRRVTDDEVVVVYAPDFLKNLSDIILKMEQTEEGKITLNNYLVWQAVRTLTSCLSKPFRDAYKGVRKALMGSDGGEEIWRYCVSDTNNVVGFAVGAIFVRQAFHGESKPAAEQMIAEIREAFKMNLQNLTWVDKQTREKAIEKANQISDMIGFPDYILDPVELDKKYAELNITPNAYFENNIQVAIYNLKSNLKRLDQPVNKTNWGMTPQTVNAYYTPTKNQIVFPAGILQTPFFDINNPKSLNFGAMGVVMGHELTHAFDDQGREYDKFGNINRWWDSKSIERFNEKSECIARQYSGYKMNGRTLNGKQTLGENIADNGGLKAAYHAYQRTKSDRDVDILKLPGLNLTHSQLFFVSFAQVWCSSTTDETNLLQMEKDPHSPSQFRVIGTLSNMKEFAEVFQCKPGKRMNPTEKCEVW", "length": 786, "header": "sp|Q9W5Y0-1|NEP3_DROME Isoform 1 of Neprilysin-3 OS=Drosophila melanogaster OX=7227 GN=Nep3 PE=2 SV=2 CANONICAL=Q9W5Y0-1" }, "locus": { "chromosome": "X", "start_pos": 19967457, "end_pos": 19963955, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0307555", "url": "https://www.ensembl.org/id/FBtr0307555" }, { "database": "Ensembl Peptide", "id": "FBpp0300207", "url": "https://www.ensembl.org/id/FBpp0300207" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 216, "start_aa": "Asn", "end_pos": 216, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn216", "evidence": [ { "id": "Q9W5Y0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W5Y0#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 226, "start_aa": "Asn", "end_pos": 226, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn226", "evidence": [ { "id": "Q9W5Y0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W5Y0#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 256, "start_aa": "Asn", "end_pos": 256, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn256", "evidence": [ { "id": "Q9W5Y0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W5Y0#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 279, "start_aa": "Asn", "end_pos": 279, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn279", "evidence": [ { "id": "Q9W5Y0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W5Y0#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 305, "start_aa": "Asn", "end_pos": 305, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn305", "evidence": [ { "id": "Q9W5Y0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W5Y0#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 325, "start_aa": "Asn", "end_pos": 325, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn325", "evidence": [ { "id": "Q9W5Y0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W5Y0#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 356, "start_aa": "Asn", "end_pos": 356, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn356", "evidence": [ { "id": "Q9W5Y0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W5Y0#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 388, "start_aa": "Asn", "end_pos": 388, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn388", "evidence": [ { "id": "Q9W5Y0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W5Y0#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 496, "start_aa": "Asn", "end_pos": 496, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn496", "evidence": [ { "id": "Q9W5Y0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W5Y0#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 569, "start_aa": "Asn", "end_pos": 569, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn569", "evidence": [ { "id": "Q9W5Y0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W5Y0#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 715, "start_aa": "Asn", "end_pos": 715, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn715", "evidence": [ { "id": "Q9W5Y0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9W5Y0#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported" ], "publication": [ { "title": "The genome sequence of Drosophila melanogaster.", "journal": "Science", "date": "2000", "authors": "Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, Sutton GG, Wortman JR, Yandell MD, Zhang Q, Chen LX, Brandon RC, Rogers YH, Blazej 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": "Q9W5Y0", "url": "https://www.uniprot.org/uniprot/Q9W5Y0" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "A Drosophila full-length cDNA resource.", "journal": "Genome Biol.", "date": "2002", "authors": "Stapleton M, Carlson J, Brokstein P, Yu C, Champe M, George R, Guarin H, Kronmiller B, Pacleb J, Park S, Wan K, Rubin GM, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "Q9W5Y0", "url": "https://www.uniprot.org/uniprot/Q9W5Y0" } ], "reference": [ { "type": "PubMed", "id": "12537569", "url": "https://glygen.org/publication/PubMed/12537569" } ] }, { "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": "Q9W5Y0", "url": "https://www.uniprot.org/uniprot/Q9W5Y0" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] }, { "title": "Neprilysins: an evolutionarily conserved family of metalloproteases that play important roles in reproduction in Drosophila.", "journal": "Genetics", "date": "2014", "authors": "Callaerts P., Francis C., Hens K., Huybrechts R., Sitnik J.L., Wolfner M.F.", "evidence": [ { "database": "UniProtKB", "id": "Q9W5Y0", "url": "https://www.uniprot.org/uniprot/Q9W5Y0" } ], "reference": [ { "type": "PubMed", "id": "24395329", "url": "https://glygen.org/publication/PubMed/24395329" } ] }, { "title": "Drosophila neprilysins are involved in middle-term and long-term memory.", "journal": "J. Neurosci.", "date": "2016", "authors": "Preat T., Goguel V., Lampin-Saint-Amaux A., Turrel O.", "evidence": [ { "database": "UniProtKB", "id": "Q9W5Y0", "url": "https://www.uniprot.org/uniprot/Q9W5Y0" } ], "reference": [ { "type": "PubMed", "id": "27629706", "url": "https://glygen.org/publication/PubMed/27629706" } ] } ], "pathway": [ { "id": "dme:Dmel_CG9565", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG9565", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P0DPD6-4", "protein_name": "Endothelin-converting enzyme 2", "gene_name": "ECE2", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": 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