{ "uniprot_canonical_ac": "Q9W3N1-1", "uniprot_ac": "Q9W3N1", "uniprot_id": "Q9W3N1_DROME", "mass": { "chemical_mass": 35117.0, "monoisotopic_mass": 35117.0 }, "refseq": { "ac": "NP_572420", "name": "spidey", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_572420" }, "gene_names": [ { "name": "spidey", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9W3N1", "id": "Q9W3N1" }, { "name": "CG1444; Dmel\\CG1444; Kar; KAR; KAR[CG1444]", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_572420", "id": "NP_572420" }, { "name": "CG1444", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9W3N1", "id": "Q9W3N1" }, { "name": "Dmel\\CG1444", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9W3N1", "id": "Q9W3N1" }, { "name": "Dmel_CG1444", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9W3N1", 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"https://www.ncbi.nlm.nih.gov/protein/NP_572420", "id": "NP_572420" } ], "function": [], "disease": [ { "disease_id": "DOID:0112248", "recommended_name": { "id": "DOID:0112248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112248", "name": "17-beta hydroxysteroid dehydrogenase 3 deficiency", "description": "A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22." }, "synonyms": [ { "id": "DOID:0112248", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112248", "name": "46,XY disorder of sex development due to 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"https://monarchinitiative.org/disease/MONDO:0009916", "name": "17-beta-hydroxysteroid dehydrogenase 3 deficiency", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "17-ketoreductase deficiency", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "17-ketosteroidreductase deficiency", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "17 alpha KSR deficiency", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "17 alpha ketosteroid reductase deficiency of testis", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "17 beta hydroxysteroid dehydrogenase III deficiency", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "17-BETA hydroxysteroid dehydrogenase III deficiency", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "17-Beta hydroxysteroid dehydrogenase 3 deficiency", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "17-KSR deficiency", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "17-beta hydroxysteroid dehydrogenase 3 deficiency", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "17-ketosteroid reductase deficiency of testis", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "Male pseudoherma-phroditism with gynecomastia", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "neutral 17 beta hydroxysteroid oxidoreductase deficiency", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "neutral 17-Beta-hydroxysteroid oxidoreductase deficiency", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "polycystic ovarian disease due to 17-ketosteroid reductase deficiency", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "polycystic ovary syndrome due to 17-ketosteroid reductase deficiency", "description": "" }, { "id": "MONDO:0009916", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009916", "name": "pseudohermaphroditism, Male, with gynecomastia", "description": "" }, { "id": "MIM:264300", "resource": "MIM", "url": "https://www.omim.org/entry/264300", "name": "Male pseudohermaphrodism with gynecomastia", "description": "Male pseudohermaphrodism with gynecomastia" } ], "evidence": [ { "id": "0112248", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0112248" } ] }, { "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:1923", "recommended_name": { "id": "DOID:1923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1923", "name": "disorder of sexual development", "description": "A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex." }, "synonyms": [ { "id": "DOID:1923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1923", "name": "sex development disorder", "description": "" }, { "id": "DOID:1923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1923", "name": "sex differentiation disease", "description": "" } ], "evidence": [ { "id": "1923", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1923" } ] }, { "disease_id": "DOID:9352", 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"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. 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"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 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"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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"MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "diabetes mellitus, noninsulin-dependent, type 1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "NIDDM1", "description": "" }, { "id": "MONDO:0011027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011027", "name": "noninsulin-dependent diabetes mellitus 1", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "NIDDM2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "diabetes mellitus, noninsulin-dependent, 2", "description": "" }, { "id": "MONDO:0011072", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011072", "name": "noninsulin-dependent diabetes mellitus 2", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "diabetes mellitus, noninsulin-dependent, type 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "type 2 diabetes mellitus 3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "NIDDM3", "description": "" }, { "id": "MONDO:0011363", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011363", "name": "noninsulin-dependent diabetes mellitus 3", "description": "" }, { "id": "MIM:125853", "resource": "MIM", "url": "https://www.omim.org/entry/125853", "name": "Type 2 diabetes mellitus", "description": "Type 2 diabetes mellitus" }, { "id": "MIM:601283", 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Biol.", "date": "2005", "authors": "Quesneville H, Bergman CM, Andrieu O, Autard D, Nouaud D, Ashburner M, Anxolabehere D", "evidence": [ { "database": "UniProtKB", "id": "Q9W3N1", "url": "https://www.uniprot.org/uniprot/Q9W3N1" } ], "reference": [ { "type": "PubMed", "id": "16110336", "url": "https://glygen.org/publication/PubMed/16110336" } ] }, { "title": "The Release 5.1 annotation of Drosophila melanogaster heterochromatin.", "journal": "Science", "date": "2007", "authors": "Smith CD, Shu S, Mungall CJ, Karpen GH", "evidence": [ { "database": "UniProtKB", "id": "Q9W3N1", "url": "https://www.uniprot.org/uniprot/Q9W3N1" } ], "reference": [ { "type": "PubMed", "id": "17569856", "url": "https://glygen.org/publication/PubMed/17569856" } ] }, { "title": "Sequence finishing and mapping of Drosophila melanogaster heterochromatin.", "journal": "Science", "date": "2007", "authors": "Hoskins RA, Carlson JW, Kennedy C, Acevedo D, Evans-Holm M, Frise E, Wan KH, Park S, Mendez-Lago M, Rossi F, 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