{ "uniprot_canonical_ac": "A0A0B4K7J3-1", "uniprot_ac": "A0A0B4K7J3", "uniprot_id": "A0A0B4K7J3_DROME", "mass": { "chemical_mass": 65862.0, "monoisotopic_mass": 65862.0 }, "refseq": { "ac": "NP_523652", "name": "saxophone, isoform A", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523652" }, "gene_names": [ { "name": "sax", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3", "id": "A0A0B4K7J3" }, { "name": "Bkr43E; Brk43E; CG1891; Dmel\\CG1891; Sa; Sax; SAX; STK-B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523652", "id": "NP_523652" }, { "name": "Bkr43E", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3", "id": "A0A0B4K7J3" }, { "name": "Brk43E", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3", "id": "A0A0B4K7J3" }, { "name": "CG1891", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3", "id": "A0A0B4K7J3" }, { "name": "Dmel\\CG1891", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3", "id": "A0A0B4K7J3" }, { "name": "Dmel_CG1891", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3", "id": "A0A0B4K7J3" }, { "name": "SAX", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3", "id": "A0A0B4K7J3" }, { "name": "STK-B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3", "id": "A0A0B4K7J3" }, { "name": "Sax", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3", "id": "A0A0B4K7J3" }, { "name": "Sa", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3", "id": "A0A0B4K7J3" }, { "name": "sax", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523652", "id": "NP_523652" } ], "protein_names": [ { "name": "receptor protein serine/threonine kinase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0A0B4K7J3" }, { "name": "2.7.11.30", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "A0A0B4K7J3" }, { "name": "CG1891-PA; sax-PA; saxophone", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523652", "id": "NP_523652" }, { "name": "CG1891-PB; sax-PB; saxophone", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_724606", "id": "NP_724606" }, { "name": "CG1891-PC; sax-PC; saxophone", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001246193", "id": "NP_001246193" }, { "name": "saxophone, isoform A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_523652", "id": "NP_523652" }, { "name": "saxophone, isoform B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_724606", "id": "NP_724606" }, { "name": "saxophone, isoform C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001246193", "id": "NP_001246193" } ], "function": [], "disease": [ { "disease_id": "DOID:0060688", "recommended_name": { "id": "DOID:0060688", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060688", "name": "arteriovenous malformations of the brain", "description": "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain." }, "synonyms": [ { "id": "DOID:0060688", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060688", "name": "cerebral arteriovenous malformation", "description": "" }, { "id": "DOID:0060688", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060688", "name": "intracranial arteriovenous malformation", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "arteriovenous malformations of the brain", "description": "Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures." }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "arteriovenous malformation of the brain, somatic", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "arteriovenous malformations of the brain", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "cerebral arteriovenous malformation", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "intracranial arteriovenous malformation", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "intracranial haemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "Bavm", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "cerebral arteriovenous malformations", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "intracranial AVM", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "intracranial haemorrhage in brain arteriovenous malformations, susceptibility to", "description": "" }, { "id": "MONDO:0007154", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007154", "name": "intracranial hemorrhage in brain arteriovenous malformations, susceptibility to", "description": "" } ], "evidence": [ { "id": "0060688", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060688" } ] }, { "disease_id": "DOID:1070", "recommended_name": { "id": "DOID:1070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1070", "name": "primary open angle glaucoma", "description": "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure." }, "synonyms": [ { "id": "DOID:1070", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1070", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "obsolete glaucoma 1, open angle, E", "description": "OBSOLETE. A form of glaucoma in which there is no visible abnormality in the trabecular meshwork." }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "chronic simple glaucoma", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "glaucoma 1, open angle, E", "description": "" }, { "id": "MONDO:0007665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007665", "name": "glaucoma, primary open angle, adult-onset", "description": "" }, { "id": "MIM:137760", "resource": "MIM", "url": "https://www.omim.org/entry/137760", "name": "Glaucoma, primary open angle", "description": "Glaucoma, primary open angle" } ], "evidence": [ { "id": "1070", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1070" } ] }, { "disease_id": "DOID:11294", "recommended_name": { "id": "DOID:11294", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11294", "name": "arteriovenous malformation", "description": "A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system." }, "synonyms": [ { "id": "DOID:11294", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11294", "name": "Arteriovenous hemangioma", "description": "" }, { "id": "DOID:11294", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11294", "name": "Cirsoid aneurysm", "description": "" }, { "id": "DOID:11294", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11294", "name": "Racemose Angioma", "description": "" }, { "id": "DOID:11294", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11294", "name": "Racemose aneurysm", "description": "" }, { "id": "DOID:11294", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11294", "name": "Racemose hemangioma", "description": "" } ], "evidence": [ { "id": "11294", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11294" } ] }, { "disease_id": "DOID:1270", "recommended_name": { "id": "DOID:1270", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1270", "name": "hereditary hemorrhagic telangiectasia", "description": "A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins." }, "synonyms": [ { "id": "DOID:1270", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1270", "name": "Osler hemorrhagic telangiectasia syndrome", "description": "" }, { "id": "DOID:1270", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1270", "name": "Osler-Weber-Rendu disease", "description": "" }, { "id": "DOID:1270", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1270", "name": "Rendu-Osler-Weber disease", "description": "" }, { "id": "MONDO:0010996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010996", "name": "hereditary hemorrhagic telangiectasia type 3", "description": "" }, { "id": "MONDO:0010996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010996", "name": "HHT3", "description": "" }, { "id": "MONDO:0010996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010996", "name": "ORW3", "description": "" }, { "id": "MONDO:0010996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010996", "name": "Osler Weber Rendu syndrome type 3", "description": "" }, { "id": "MONDO:0010996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010996", "name": "telangiectasia hereditary hemorrhagic type 3", "description": "" }, { "id": "MONDO:0010996", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010996", "name": "telangiectasia, hereditary hemorrhagic, type 3", "description": "" }, { "id": "MONDO:0014217", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014217", "name": "telangiectasia, hereditary hemorrhagic, type 5", "description": "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene." }, { "id": "MONDO:0014217", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014217", "name": "GDF2 hereditary hemorrhagic telangiectasia", "description": "" }, { "id": "MONDO:0014217", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014217", "name": "GDF2 related HHT-like syndrome", "description": "" }, { "id": "MONDO:0014217", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014217", "name": "hereditary hemorrhagic telangiectasia caused by mutation in GDF2", "description": "" }, { "id": "MONDO:0014217", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014217", "name": "telangiectasia, hereditary hemorrhagic, type 5", "description": "" }, { "id": "MONDO:0014217", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014217", "name": "HHT5", "description": "" }, { "id": "MONDO:0010880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010880", "name": "telangiectasia, hereditary hemorrhagic, type 2", "description": "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene." }, { "id": "MONDO:0010880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010880", "name": "ACVRL1 hereditary hemorrhagic telangiectasia", "description": "" }, { "id": "MONDO:0010880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010880", "name": "hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1", "description": "" }, { "id": "MONDO:0010880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010880", "name": "telangiectasia, hereditary hemorrhagic, type 2", "description": "" }, { "id": "MONDO:0010880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010880", "name": "HHT2", "description": "" }, { "id": "MONDO:0010880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010880", "name": "ORW2", "description": "" }, { "id": "MONDO:0010880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010880", "name": "Osler Weber Rendu syndrome type 2", "description": "" }, { "id": "MONDO:0010880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010880", "name": "hereditary hemorrhagic telangiectasia type 2", "description": "" }, { "id": "MONDO:0010880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010880", "name": "pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related", "description": "" }, { "id": "MONDO:0010880", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010880", "name": "telangiectasia hereditary hemorrhagic type 2", "description": "" }, { "id": "MONDO:0008535", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008535", "name": "telangiectasia, hereditary hemorrhagic, type 1", "description": "" }, { "id": "MONDO:0008535", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008535", "name": "HHT1", "description": "" }, { "id": "MONDO:0008535", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008535", "name": "hereditary hemorrhagic telangiectasia type 1", "description": "" }, { "id": "MONDO:0008535", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008535", "name": "telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber", "description": "" }, { "id": "MONDO:0008535", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008535", "name": "telangiectasia, hereditary hemorrhagic, type 1", "description": "" }, { "id": "MONDO:0008535", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008535", "name": "ENG-related Hereditary hemorrhagic telangiectasia", "description": "" }, { "id": "MONDO:0008535", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008535", "name": "HHT", "description": "" }, { "id": "MONDO:0008535", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008535", "name": "ORW disease", "description": "" }, { "id": "MONDO:0008535", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008535", "name": "Osler Weber Rendu syndrome type 1", "description": "" }, { "id": "MONDO:0008535", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008535", "name": "Osler-Rendu-Weber disease", "description": "" }, { "id": "MONDO:0008535", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008535", "name": "telangiectasia, hereditary hemorrhagic, of RENDU, Osler, and WEBER", "description": "" }, { "id": "MIM:615506", "resource": "MIM", "url": "https://www.omim.org/entry/615506", "name": "Telangiectasia, hereditary hemorrhagic, 5", "description": "Telangiectasia, hereditary hemorrhagic, 5" }, { "id": "MIM:600376", "resource": "MIM", "url": "https://www.omim.org/entry/600376", "name": "Telangiectasia, hereditary hemorrhagic, 2", "description": "Telangiectasia, hereditary hemorrhagic, 2" }, { "id": "MIM:187300", "resource": "MIM", "url": "https://www.omim.org/entry/187300", "name": "Telangiectasia, hereditary hemorrhagic, 1", "description": "Telangiectasia, hereditary hemorrhagic, 1" } ], "evidence": [ { "id": "1270", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1270" } ] }, { "disease_id": "DOID:13129", "recommended_name": { "id": "DOID:13129", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13129", "name": "severe pre-eclampsia", "description": "A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption." }, "synonyms": [ { "id": "DOID:13129", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13129", "name": "Severe pre-eclampsia, with delivery", "description": "" }, { "id": "DOID:13129", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13129", "name": "antepartum severe pre-eclampsia", "description": "" }, { "id": "DOID:13129", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13129", "name": "postpartum severe pre-eclampsia", "description": "" }, { "id": "DOID:13129", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13129", "name": "severe preeclampsia", "description": "" } ], "evidence": [ { "id": "13129", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13129" } ] }, { "disease_id": "DOID:13374", "recommended_name": { "id": "DOID:13374", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13374", "name": "fibrodysplasia ossificans progressiva", "description": "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene." }, "synonyms": [ { "id": "DOID:13374", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13374", "name": "Stone Man Syndrome", "description": "" }, { "id": "DOID:13374", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13374", "name": "myositis ossificans progressiva", "description": "" }, { "id": "DOID:13374", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13374", "name": "progressive myositis ossificans", "description": "" }, { "id": "DOID:13374", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13374", "name": "progressive ossifying myositis", "description": "" }, { "id": "MONDO:0007606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007606", "name": "fibrodysplasia ossificans progressiva", "description": "Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites." }, { "id": "MONDO:0007606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007606", "name": "Stone Man syndrome", "description": "" }, { "id": "MONDO:0007606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007606", "name": "Stone man syndrome", "description": "" }, { "id": "MONDO:0007606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007606", "name": "fibrodysplasia ossificans progressiva", "description": "" }, { "id": "MONDO:0007606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007606", "name": "fop", "description": "" }, { "id": "MONDO:0007606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007606", "name": "progressive myositis ossificans", "description": "" }, { "id": "MONDO:0007606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007606", "name": "progressive ossifying myositis", "description": "" }, { "id": "MONDO:0007606", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007606", "name": "myositis ossificans progressiva", "description": "" }, { "id": "MIM:135100", "resource": "MIM", "url": "https://www.omim.org/entry/135100", "name": "Fibrodysplasia ossificans progressiva", "description": "Fibrodysplasia ossificans progressiva" } ], "evidence": [ { "id": "13374", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13374" } ] }, { "disease_id": "DOID:13641", "recommended_name": { "id": "DOID:13641", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13641", "name": "exfoliation syndrome", "description": "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures." }, "synonyms": [ { "id": "DOID:13641", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13641", "name": "Pseudoexfoliation glaucoma", "description": "" }, { "id": "DOID:13641", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:13641", "name": "Pseudoexfoliation syndrome", "description": "" }, { "id": "MONDO:0100046", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100046", "name": "exfoliation syndrome, susceptibility to", "description": "An inherited susceptibility or predisposition to developing exfoliation syndrome." }, { "id": "MONDO:0100046", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100046", "name": "pseudoexfoliation glaucoma", "description": "" }, { "id": "MONDO:0100046", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100046", "name": "pseudoexfoliation of the lens", "description": "" }, { "id": "MONDO:0100046", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100046", "name": "pseudoexfoliation syndrome", "description": "" }, { "id": "MIM:177650", "resource": "MIM", "url": "https://www.omim.org/entry/177650", "name": "Exfoliation syndrome", "description": "Exfoliation syndrome" } ], "evidence": [ { "id": "13641", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:13641" } ] }, { "disease_id": "DOID:1405", "recommended_name": { "id": "DOID:1405", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1405", "name": "primary angle-closure glaucoma", "description": "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component." }, "synonyms": [ { "id": "DOID:1405", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1405", "name": "primary Angle Closure Glaucoma", "description": "" } ], "evidence": [ { "id": "1405", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1405" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ], "evidence": [ { "id": "1793", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1793" } ] }, { "disease_id": "DOID:224", "recommended_name": { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death." }, "synonyms": [ { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA - Transient ischaemic attack", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient cerebral ischaemia", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient ischemic attacks", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient ischemic attack", "description": "" } ], "evidence": [ { "id": "224", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:224" } ] }, { "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" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "sax", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3", "locus": { "chromosome": "2R", "start_pos": 7810067, "end_pos": 7806484, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0003317", "url": "https://www.ensembl.org/id/FBgn0003317" } ] } } ], "crossref": [ { "id": "FBgn0003317", "url": "https://bgee.org/?page=gene&gene_id=FBgn0003317", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd12087", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd12087", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd14142", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd14142", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBgn0003317", "url": "https://flybase.org/reports/FBgn0003317", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "35731", "url": "https://www.ncbi.nlm.nih.gov/gene/35731", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q7JQ36", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q7JQ36*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "Q95U21", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q95U21*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000333", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000333", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000472", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000472", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000719", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000719", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001245", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001245", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003605", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003605", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008271", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008271", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011009", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011009", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017194", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017194", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017441", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017441", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045860", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045860", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG1891", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG1891", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A0B4K7J3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0A0B4K7J3", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "VKIYFSR", "url": "https://omabrowser.org/oma/group/VKIYFSR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3900892at2759", "url": "http://www.orthodb.org/?query=3900892at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23255", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23255", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23255:SF72", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23255:SF72", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01064", "url": "http://pfam.xfam.org/family/PF01064", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07714", "url": "http://pfam.xfam.org/family/PF07714", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08515", "url": "http://pfam.xfam.org/family/PF08515", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "R-DME-201451", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-201451", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001246193", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001246193", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0B4K7J3-1", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7JQ36", "url": "https://www.uniprot.org/uniprot/Q7JQ36", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7JQ36-1", "url": "https://www.uniprot.org/uniprot/Q7JQ36-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q95U21", "url": "https://www.uniprot.org/uniprot/Q95U21", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q95U21-1", "url": "https://www.uniprot.org/uniprot/Q95U21-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MESNIYLVFLLTFLLYNNARAEISDHLREDIPDLDMELSSASSAHLNGKELPAVPQNSVQTHPRRHIKSKRRMKRRYKCYSCEPPCRDPYEFTHTCQNAIQCWKSRTRDADGQVQESRGCSTSPDQLPMICSQNSLKINGPSKRNTGKFVNVVCCAGDYCNEGDFPELLPFDSNDVTVITADTSSISKMLVAVLGPFLVIALLGAVTIFFIRRSHRKRLAASRTKQDPEAYLVNDELLRATSAGDSTLREYLQHSVTSGSGSGLPLLVQRTLAKQVTLIECIGRGKYGEVWRGHWHGESIAVKIFFSRDEESWKRETEIYSTILLRHENILGFIGSDMTSRNSCTQLWLMTHYYPLGSLFDHLNRNALSHNDMVWICLSIANGLVHLHTEIFGKQGKPAMAHRDLKSKNILVTSNGSCVIADFGLAVTHSHVTGQLDLGNNPKVGTKRYMAPEVLDESIDLECFEALRRTDIYAFGLVLWEVCRRTISCGIAEEYKVPFYDVVPMDPSFEDMRKVVCIDNYRPSIPNRWSSDSLMTGMSKLMKECWHQNPDVRLPALRIKKTIHKLASADEKIRLDFDEVCV", "length": 582, "header": "tr|A0A0B4K7J3-1|A0A0B4K7J3_DROME Isoform 1 of receptor protein serine/threonine kinase OS=Drosophila melanogaster OX=7227 GN=sax PE=3 SV=1 CANONICAL=A0A0B4K7J3-1" }, "isoforms": [ { "isoform_ac": "A0A0B4K7J3-1", "url": "", "sequence": { "sequence": "MESNIYLVFLLTFLLYNNARAEISDHLREDIPDLDMELSSASSAHLNGKELPAVPQNSVQTHPRRHIKSKRRMKRRYKCYSCEPPCRDPYEFTHTCQNAIQCWKSRTRDADGQVQESRGCSTSPDQLPMICSQNSLKINGPSKRNTGKFVNVVCCAGDYCNEGDFPELLPFDSNDVTVITADTSSISKMLVAVLGPFLVIALLGAVTIFFIRRSHRKRLAASRTKQDPEAYLVNDELLRATSAGDSTLREYLQHSVTSGSGSGLPLLVQRTLAKQVTLIECIGRGKYGEVWRGHWHGESIAVKIFFSRDEESWKRETEIYSTILLRHENILGFIGSDMTSRNSCTQLWLMTHYYPLGSLFDHLNRNALSHNDMVWICLSIANGLVHLHTEIFGKQGKPAMAHRDLKSKNILVTSNGSCVIADFGLAVTHSHVTGQLDLGNNPKVGTKRYMAPEVLDESIDLECFEALRRTDIYAFGLVLWEVCRRTISCGIAEEYKVPFYDVVPMDPSFEDMRKVVCIDNYRPSIPNRWSSDSLMTGMSKLMKECWHQNPDVRLPALRIKKTIHKLASADEKIRLDFDEVCV", "length": 582, "header": "tr|A0A0B4K7J3-1|A0A0B4K7J3_DROME Isoform 1 of receptor protein serine/threonine kinase OS=Drosophila melanogaster OX=7227 GN=sax PE=3 SV=1 CANONICAL=A0A0B4K7J3-1" }, "locus": { "chromosome": "2R", "start_pos": 7809416, "end_pos": 7806538, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0308825", "url": "https://www.ensembl.org/id/FBtr0308825" }, { "database": "Ensembl Peptide", "id": "FBpp0300982", "url": "https://www.ensembl.org/id/FBpp0300982" } ] } }, { "isoform_ac": "Q7JQ36-1", "url": "", "sequence": { "sequence": "MESNIYLVFLLTFLLYNNARAEISDHLREDIPDLDMELSSASSAHLNGKELPAVPQNSVQTHPRYKCYSCEPPCRDPYEFTHTCQNAIQCWKSRTRDADGQVQESRGCSTSPDQLPMICSQNSLKINGPSKRNTGKFVNVVCCAGDYCNEGDFPELLPFDSNDVTVITADTSSISKMLVAVLGPFLVIALLGAVTIFFIRRSHRKRLAASRTKQDPEAYLVNDELLRATSAGDSTLREYLQHSVTSGSGSGLPLLVQRTLAKQVTLIECIGRGKYGEVWRGHWHGESIAVKIFFSRDEESWKRETEIYSTILLRHENILGFIGSDMTSRNSCTQLWLMTHYYPLGSLFDHLNRNALSHNDMVWICLSIANGLVHLHTEIFGKQGKPAMAHRDLKSKNILVTSNGSCVIADFGLAVTHSHVTGQLDLGNNPKVGTKRYMAPEVLDESIDLECFEALRRTDIYAFGLVLWEVCRRTISCGIAEEYKVPFYDVVPMDPSFEDMRKVVCIDNYRPSIPNRWSSDSLMTGMSKLMKECWHQNPDVRLPALRIKKTIHKLASADEKIRLDFDEVCV", "length": 570, "header": "tr|Q7JQ36-1|A0A0B4K7J3_DROME Computationally mapped isoform of receptor protein serine/threonine kinase OS=Drosophila melanogaster OX=7227 GN=sax PE=3 SV=1 CANONICAL=A0A0B4K7J3-1" }, "locus": { "chromosome": "2R", "start_pos": 7809416, "end_pos": 7806538, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0088832", "url": "https://www.ensembl.org/id/FBtr0088832" }, { "database": "Ensembl Peptide", "id": "FBpp0087908", "url": "https://www.ensembl.org/id/FBpp0087908" } ] } }, { "isoform_ac": "Q95U21-1", "url": "", "sequence": { "sequence": "MELSSASSAHLNGKELPAVPQNSVQTHPRYKCYSCEPPCRDPYEFTHTCQNAIQCWKSRTRDADGQVQESRGCSTSPDQLPMICSQNSLKINGPSKRNTGKFVNVVCCAGDYCNEGDFPELLPFDSNDVTVITADTSSISKMLVAVLGPFLVIALLGAVTIFFIRRSHRKRLAASRTKQDPEAYLVNDELLRATSAGDSTLREYLQHSVTSGSGSGLPLLVQRTLAKQVTLIECIGRGKYGEVWRGHWHGESIAVKIFFSRDEESWKRETEIYSTILLRHENILGFIGSDMTSRNSCTQLWLMTHYYPLGSLFDHLNRNALSHNDMVWICLSIANGLVHLHTEIFGKQGKPAMAHRDLKSKNILVTSNGSCVIADFGLAVTHSHVTGQLDLGNNPKVGTKRYMAPEVLDESIDLECFEALRRTDIYAFGLVLWEVCRRTISCGIAEEYKVPFYDVVPMDPSFEDMRKVVCIDNYRPSIPNRWSSDSLMTGMSKLMKECWHQNPDVRLPALRIKKTIHKLASADEKIRLDFDEVCV", "length": 535, "header": "tr|Q95U21-1|Q95U21_DROME Computationally mapped isoform of receptor protein serine/threonine kinase OS=Drosophila melanogaster OX=7227 GN=sax PE=2 SV=1 CANONICAL=A0A0B4K7J3-1" }, "locus": { "chromosome": "2R", "start_pos": 7809416, "end_pos": 7807116, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0088833", "url": "https://www.ensembl.org/id/FBtr0088833" }, { "database": "Ensembl Peptide", "id": "FBpp0087909", "url": "https://www.ensembl.org/id/FBpp0087909" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "A0A0B4K7J3", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0A0B4K7J3" }, { "id": "32369743", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32369743" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "O-GlcNAcylation Dampens Dpp/BMP Signaling to Ensure Proper Drosophila Embryonic Development.", "journal": "Developmental cell", "date": "2020", "authors": "Moulton MJ, Humphreys GB, Kim A, Letsou A", "evidence": [ { "database": "O-GlcNAc Database", "id": "A0A0B4K7J3", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=A0A0B4K7J3" } ], "reference": [ { "type": "PubMed", "id": "32369743", "url": "https://glygen.org/publication/PubMed/32369743" } ] }, { "title": "Identification of two bone morphogenetic protein type I receptors in Drosophila and evidence that Brk25D is a decapentaplegic receptor.", "journal": "Cell", "date": "1994", "authors": "Penton A, Chen Y, Staehling-Hampton K, Wrana J L, Attisano L, Szidonya J, Cassill J A, Massagu\u00e9 J, Hoffmann F M", "evidence": [ { "database": "UniProtKB", "id": "Q7JQ36", "url": "https://www.uniprot.org/uniprot/Q7JQ36" } ], "reference": [ { "type": "PubMed", "id": "8044838", "url": "https://glygen.org/publication/PubMed/8044838" } ] } ], "pathway": [ { "id": "dme:Dmel_CG1891", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG1891", "resource": "KEGG Pathway" }, { "id": "R-DME-201451", "name": "Signaling by BMP", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-201451", "resource": "Reactome", "description": "Signaling by BMP" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3" } ], "pmid": "" }, { "name": "transforming growth factor beta receptor activity, type I", "id": "GO:0005025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005025", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3" } ], "pmid": "" }, { "name": "SMAD binding", "id": "GO:0046332", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046332", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3" } ], "pmid": "" }, { "name": "transmembrane receptor protein serine/threonine kinase activity", "id": "GO:0004675", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004675", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3" } ], "pmid": "" }, { "name": "BMP receptor activity", "id": "GO:0098821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098821", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3" } ], "pmid": "" }, { "name": "I-SMAD binding", "id": "GO:0070411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070411", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4K7J3", "url": "https://www.uniprot.org/uniprot/A0A0B4K7J3" } 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