{ "uniprot_canonical_ac": "M9PI24-1", "uniprot_ac": "M9PI24", "uniprot_id": "M9PI24_DROME", "mass": { "chemical_mass": 142500.0, "monoisotopic_mass": 142500.0 }, "refseq": { "ac": "NP_648535", "name": "uncharacterized protein, isoform B", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_648535" }, "gene_names": [ { "name": "Dmel\\CG6938", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/M9PI24", "id": "M9PI24" }, { "name": "CG6938", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001261733", "id": "NP_001261733" }, { "name": "CG6938", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/M9PI24", "id": "M9PI24" }, { "name": "Dmel\\CG6938", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001261733", "id": "NP_001261733" }, { "name": "Dmel_CG6938", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/M9PI24", "id": "M9PI24" } ], "protein_names": [ { "name": "Anoctamin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "M9PI24" }, { "name": "CG6938-PB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_648535", "id": "NP_648535" }, { "name": "CG6938-PC", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001261733", "id": "NP_001261733" }, { "name": "uncharacterized protein, isoform B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_648535", "id": "NP_648535" }, { "name": "uncharacterized protein, isoform C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001261733", "id": "NP_001261733" } ], "function": [], "disease": [ { "disease_id": "DOID:0050589", "recommended_name": { "id": "DOID:0050589", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050589", "name": "inflammatory bowel disease", "description": "An intestinal disease characterized by inflammation located in all parts of digestive tract." }, "synonyms": [ { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease 1", "description": "Any inflammatory bowel disease in which the cause of the disease is a mutation in the NOD2 gene." }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "IBD1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "NOD2 inflammatory bowel disease", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "crohn disease-associated growth failure", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease 1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease 1, Crohn disease", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease caused by mutation in NOD2", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease type 1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "Crohn disease", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "Crohn disease-associated Growth failure, susceptibility to", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "inflammatory bowel disease (Crohn disease) 1", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "paediatric ulcerative colitis", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "pediatric ulcerative colitis", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "regional enteritis", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "ulcerative colitis", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "ulcerative colitis, paediatric", "description": "" }, { "id": "MONDO:0009960", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009960", "name": "ulcerative colitis, pediatric", "description": "" }, { "id": "MIM:266600", "resource": "MIM", "url": "https://www.omim.org/entry/266600", "name": "Inflammatory bowel disease 1", "description": "Inflammatory bowel disease 1" } ], "evidence": [ { "id": "0050589", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050589" } ] }, { "disease_id": "DOID:0070201", "recommended_name": { "id": "DOID:0070201", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070201", "name": "Miyoshi muscular dystrophy 3", "description": "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14." }, "synonyms": [ { "id": "DOID:0070201", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070201", "name": "MMD3", "description": "" }, { "id": "DOID:0070201", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070201", "name": "Miyoshi myopathy 3", "description": "" }, { "id": "MONDO:0013222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013222", "name": "Miyoshi muscular dystrophy 3", "description": "" }, { "id": "MONDO:0013222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013222", "name": "MMD3", "description": "" }, { "id": "MONDO:0013222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013222", "name": "Miyoshi muscular dystrophy 3", "description": "" }, { "id": "MONDO:0013222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013222", "name": "Miyoshi muscular dystrophy type 3", "description": "" }, { "id": "MONDO:0013222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013222", "name": "distal anoctaminopathy", "description": "" }, { "id": "MONDO:0013222", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013222", "name": "Miyoshi myopathy 3", "description": "" }, { "id": "MIM:613319", "resource": "MIM", "url": "https://www.omim.org/entry/613319", "name": "Miyoshi muscular dystrophy 3", "description": "Miyoshi muscular dystrophy 3" } ], "evidence": [ { "id": "0070201", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070201" } ] }, { "disease_id": "DOID:0090052", "recommended_name": { "id": "DOID:0090052", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090052", "name": "dystonia 24", "description": "A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14." }, "synonyms": [ { "id": "MONDO:0014019", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014019", "name": "dystonia 24", "description": "Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene." }, { "id": "MONDO:0014019", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014019", "name": "ANO3 dystonic disorder", "description": "" }, { "id": "MONDO:0014019", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014019", "name": "DYT-ANO3", "description": "" }, { "id": "MONDO:0014019", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014019", "name": "DYT24", "description": "" }, { "id": "MONDO:0014019", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014019", "name": "dystonia 24", "description": "" }, { "id": "MONDO:0014019", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014019", "name": "dystonia type 24", "description": "" }, { "id": "MONDO:0014019", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014019", "name": "dystonic disorder caused by mutation in ANO3", "description": "" }, { "id": "MONDO:0014019", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014019", "name": "cranio-cervical dystonia with laryngeal and upper-limb involvement", "description": "" }, { "id": "MIM:615034", "resource": "MIM", "url": "https://www.omim.org/entry/615034", "name": "Dystonia 24", "description": "Dystonia 24" } ], "evidence": [ { "id": "0090052", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0090052" } ] }, { "disease_id": "DOID:0110284", "recommended_name": { "id": "DOID:0110284", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110284", "name": "autosomal recessive limb-girdle muscular dystrophy type 2L", "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14." }, "synonyms": [ { "id": "DOID:0110284", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110284", "name": "LGMD2L", "description": "" }, { "id": "DOID:0110284", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110284", "name": "muscular dystrophy, limb-girdle, type 2L", "description": "" }, { "id": "MONDO:0012652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012652", "name": "autosomal recessive limb-girdle muscular dystrophy type 2L", "description": "A form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood." }, { "id": "MONDO:0012652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012652", "name": "ANO5 autosomal recessive limb-girdle muscular dystrophy", "description": "" }, { "id": "MONDO:0012652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012652", "name": "LGMD2L", "description": "" }, { "id": "MONDO:0012652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012652", "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5", "description": "" }, { "id": "MONDO:0012652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012652", "name": "muscular dystrophy, limb-girdle, autosomal recessive 12", "description": "" }, { "id": "MONDO:0012652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012652", "name": "muscular dystrophy, limb-girdle, type 2L", "description": "" }, { "id": "MONDO:0012652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012652", "name": "limb-girdle muscular dystrophy type 2L", "description": "" }, { "id": "MIM:611307", "resource": "MIM", "url": "https://www.omim.org/entry/611307", "name": "Muscular dystrophy, limb-girdle, autosomal recessive 12", "description": "Muscular dystrophy, limb-girdle, autosomal recessive 12" } ], "evidence": [ { "id": "0110284", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110284" } ] }, { "disease_id": "DOID:0111052", "recommended_name": { "id": "DOID:0111052", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111052", "name": "Scott syndrome", "description": "A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12." }, "synonyms": [ { "id": "DOID:0111052", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111052", "name": "bleeding abnormality due to deficiency of platelet biding of factor X", "description": "" }, { "id": "DOID:0111052", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111052", "name": "BDPLT7", "description": "" }, { "id": "DOID:0111052", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111052", "name": "SCTS", "description": "" }, { "id": "DOID:0111052", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111052", "name": "familial prothrombin consumption inhibitor", "description": "" }, { "id": "DOID:0111052", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111052", "name": "familial prothrombin conversion defect", "description": "" }, { "id": "DOID:0111052", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111052", "name": "platelet-type bleeding disorder 7", "description": "" }, { "id": "DOID:0111052", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111052", "name": "prothrombin consumption deficiency", "description": "" }, { "id": "MONDO:0009885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009885", "name": "Scott syndrome", "description": "Scott syndrome is an extremely rare congenital hemorrhagic disorder characterized by hemorrhagic episodes due to impaired platelet coagulant activity." }, { "id": "MONDO:0009885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009885", "name": "BDPLT7", "description": "" }, { "id": "MONDO:0009885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009885", "name": "SCTS", "description": "" }, { "id": "MONDO:0009885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009885", "name": "Scott syndrome", "description": "" }, { "id": "MONDO:0009885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009885", "name": "bleeding abnormality due to deficiency of platelet biding of factor X", "description": "" }, { "id": "MONDO:0009885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009885", "name": "familial prothrombin consumption inhibitor", "description": "" }, { "id": "MONDO:0009885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009885", "name": "familial prothrombin conversion defect", "description": "" }, { "id": "MONDO:0009885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009885", "name": "platelet-type bleeding disorder 7", "description": "" }, { "id": "MONDO:0009885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009885", "name": "prothrombin consumption deficiency", "description": "" }, { "id": "MONDO:0009885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009885", "name": "Platelet factor X receptor deficiency", "description": "" }, { "id": "MONDO:0009885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009885", "name": "bleeding Abnormality due to deficiency of Platelet binding of Factor 10", "description": "" }, { "id": "MONDO:0009885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009885", "name": "bleeding disorder, Platelet-type, 7", "description": "" }, { "id": "MONDO:0009885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009885", "name": "prothrombin consumption inhibitor, familial", "description": "" }, { "id": "MONDO:0009885", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009885", "name": "prothrombin conversion defect, familial", "description": "" }, { "id": "MIM:262890", "resource": "MIM", "url": "https://www.omim.org/entry/262890", "name": "Scott syndrome", "description": "Scott syndrome" } ], "evidence": [ { "id": "0111052", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111052" } ] }, { "disease_id": "DOID:0111338", "recommended_name": { "id": "DOID:0111338", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111338", "name": "isolated elevated serum creatine phosphokinase levels", "description": "An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3." }, "synonyms": [ { "id": "DOID:0111338", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111338", "name": "elevated serum CPK", "description": "" }, { "id": "DOID:0111338", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111338", "name": "idiopathic hyperCKemia", "description": "" }, { "id": "DOID:0111338", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111338", "name": "isolated hyperCKemia", "description": "" }, { "id": "MONDO:0007402", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007402", "name": "creatine phosphokinase, elevated serum", "description": "" }, { "id": "MONDO:0007402", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007402", "name": "creatine phosphokinase, elevated serum", "description": "" }, { "id": "MONDO:0007402", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007402", "name": "CPK, elevated serum", "description": "" }, { "id": "MONDO:0007402", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007402", "name": "hyperCKemia, idiopathic", "description": "" }, { "id": "MIM:123320", "resource": "MIM", "url": "https://www.omim.org/entry/123320", "name": "HyperCKmia", "description": "HyperCKmia" } ], "evidence": [ { "id": "0111338", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111338" } ] }, { "disease_id": "DOID:0111533", "recommended_name": { "id": "DOID:0111533", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111533", "name": "gnathodiaphyseal dysplasia", "description": "An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3." }, "synonyms": [ { "id": "DOID:0111533", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111533", "name": "GDD", "description": "" }, { "id": "DOID:0111533", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111533", "name": "Levin syndrome 2", "description": "" }, { "id": "DOID:0111533", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111533", "name": "gnathodiaphyseal sclerosis", "description": "" }, { "id": "DOID:0111533", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111533", "name": "osteogenesis imperfecta, Levin type", "description": "" }, { "id": "DOID:0111533", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111533", "name": "osteogenesis imperfecta with unusual skeletal lesions", "description": "" }, { "id": "MONDO:0008151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008151", "name": "gnathodiaphyseal dysplasia", "description": "Gnathodiaphyseal dysplasia (GDD) is a bone dysplasia characterized by bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones associated with generalized osteopenia. GD follows an autosomal dominant mode of transmission." }, { "id": "MONDO:0008151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008151", "name": "GDD", "description": "" }, { "id": "MONDO:0008151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008151", "name": "gnathodiaphyseal dysplasia", "description": "" }, { "id": "MONDO:0008151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008151", "name": "GNATHODIAPHYSEAL dysplasia", "description": "" }, { "id": "MONDO:0008151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008151", "name": "Gnathodiaphyseal sclerosis", "description": "" }, { "id": "MONDO:0008151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008151", "name": "Levin syndrome 2", "description": "" }, { "id": "MONDO:0008151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008151", "name": "osteogenesis imperfecta Levin type", "description": "" }, { "id": "MONDO:0008151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008151", "name": "osteogenesis imperfecta with unusual skeletal lesions", "description": "" }, { "id": "MIM:166260", "resource": "MIM", "url": "https://www.omim.org/entry/166260", "name": "Gnathodiaphyseal dysplasia", "description": "Gnathodiaphyseal dysplasia" } ], "evidence": [ { "id": "0111533", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111533" } ] }, { "disease_id": "DOID:7147", "recommended_name": { "id": "DOID:7147", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7147", "name": "ankylosing spondylitis", "description": "A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage." }, "synonyms": [ { "id": "DOID:7147", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7147", "name": "Bekhterev syndrome", "description": "" }, { "id": "DOID:7147", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7147", "name": "Bekhterev's disease", "description": "" }, { "id": "DOID:7147", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:7147", "name": "Marie-Strumpell disease", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "spondyloarthropathy, susceptibility to, 1", "description": "Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene." }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "HLA-B spondyloarthropathy, susceptibility to", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "spondyloarthropathy, susceptibility to caused by mutation in HLA-B", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "spondyloarthropathy, susceptibility to, 1", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "spondyloarthropathy, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "Bechterew syndrome", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "Marie-Strumpell spondylitis", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "SPDA1", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "ankylosing spondylitis, susceptibility to", "description": "" }, { "id": "MONDO:0007126", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007126", "name": "susceptibility to spondyloarthropathy 1", "description": "" }, { "id": "MIM:106300", "resource": "MIM", "url": "https://www.omim.org/entry/106300", "name": "Spondyloarthropathy 1", "description": "Spondyloarthropathy 1" } ], "evidence": [ { "id": "7147", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:7147" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "M9PI24", "url": "https://www.uniprot.org/uniprot/M9PI24" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "Dmel\\CG6938", "url": "https://www.uniprot.org/uniprot/M9PI24", "locus": { "chromosome": "3L", "start_pos": 11990505, "end_pos": 11984906, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0036235", "url": "https://www.ensembl.org/id/FBgn0036235" } ] } } ], "crossref": [ { "id": "FBgn0036235", "url": "https://bgee.org/?page=gene&gene_id=FBgn0036235", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "FBgn0036235", "url": "https://flybase.org/reports/FBgn0036235", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "39362", "url": "https://www.ncbi.nlm.nih.gov/gene/39362", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR007632", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007632", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032394", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032394", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG6938", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG6938", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "LRNVQYW", "url": "https://omabrowser.org/oma/group/LRNVQYW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "534027at2759", "url": "http://www.orthodb.org/?query=534027at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12308", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12308:SF84", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12308:SF84", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF04547", "url": "http://pfam.xfam.org/family/PF04547", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16178", "url": "http://pfam.xfam.org/family/PF16178", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "R-DME-2672351", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-2672351", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001261733", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001261733", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "M9PI24", "url": "https://www.uniprot.org/uniprot/M9PI24", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M9PI24-1", "url": "https://www.uniprot.org/uniprot/M9PI24-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VTS0", "url": "https://www.uniprot.org/uniprot/Q9VTS0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VTS0-1", "url": "https://www.uniprot.org/uniprot/Q9VTS0-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSSQEGRSGERSHIFQIRIDSVEDESTAPITEANSREDLIGSAAQEGDRISEQSVFQFPRFLSVPTLRSPRQSPDPSTTRQVMSSPAKSERMSRRSQTKLRPRRLSQDSGIVAGRLIGYGEGALIDSDLQPRHVESDPIDSVYSCQASHNVPVDSPSKPATPIPPKSKLSASRARAGSAAYTEKWLNSSVMRTSNGNPLFPKSNAIARPLPTHLEADSAEPSPTQAFGPKIVGNNDEDIPGTAMRRSLGLNLSPTLGSADRVNQSYEVMESSHSNVLPDQFGYRQLIPTERKASDTASSVSGSYYGSRKASKSNSLGGESGDERRVSKQDREGLDPESLMFRDGRRKVDMVLAWEEEDLGVMTEAEAKRRDNRRSFMENLIKEGLEVELEDKSQSFNEKTFFLKIHLPWRLETRLAEVMNLKLPVKRFITISVKPSWDEENVVLRNMQYWKDVWQRLTKKIQLDQTLLEGETTFKAATANGNPEEQFIVKDRATAFTSAQRSLMVMQVLIRTPFDESDRSGIRRLMNDGTYLGCFPLHEGRYDRPHSSGISLDRRVLYQTWAHPSQWYKKQPLCLVRKYFGDKIALYFCWLGFYTEMLVYPAVVGTLCFIYGLATLESEDNTPSKEICNEYGTGNITLCPLCDKACSYQRLSESCLFSRLTYLFDNPSTVFFAIFMSFWATTFLELWKRKQSVLVWEWDLHNVDMDEENRPEFETNATTFRMNPVTREKEPYMSTWNRSIRFVITGSAVLFMISVVLSAVLGTILYRITLVSVIYGGGGFFVKEHAKLFTSVTAALINLVVIMILTRIYHRMAIKLTNLENPRTHTEYEDSYTFKIFFFEFMNFYSSLIYIAFFKGRFFDYPGDDQARKSEFFRLKNDICDPAGCLSELCIQLAIIMVGKQCWNNFMEYLFPKFWNWWRQRKHKQATKDESHLHMAWEQDYHMQDPGRLALFDEYLEMILQYGFVTLFVAAFPLAPLFALLNNVAEIRLDAYKMVTQARRPLAERVEDIGAWYGILRIITYTAVVSNAFVIAYTSDFIPRMVYKFVYSETHTLAGYIEHSLSIFNTSDYKEEWGASVSEKDPDTCQYRGYRNGPKDYEPYGLSPHYWHVFAARLAFVVVFEHVVFVITGIMQFIIPDVPSEVKTQMQREQLLAKEAKYQHGIKRAQGDSQDIMSLFRDTSNRASIAGSTVTTRGSWARRFSRLSDGLDAHVEVAARPRRSVESTVWEVSXHEEEAESEAQDQSKR", "length": 1245, "header": "tr|M9PI24-1|M9PI24_DROME Isoform 1 of Anoctamin OS=Drosophila melanogaster OX=7227 GN=Dmel\\CG6938 PE=3 SV=1 CANONICAL=M9PI24-1" }, "isoforms": [ { "isoform_ac": "M9PI24-1", "url": "", "sequence": { "sequence": "MSSQEGRSGERSHIFQIRIDSVEDESTAPITEANSREDLIGSAAQEGDRISEQSVFQFPRFLSVPTLRSPRQSPDPSTTRQVMSSPAKSERMSRRSQTKLRPRRLSQDSGIVAGRLIGYGEGALIDSDLQPRHVESDPIDSVYSCQASHNVPVDSPSKPATPIPPKSKLSASRARAGSAAYTEKWLNSSVMRTSNGNPLFPKSNAIARPLPTHLEADSAEPSPTQAFGPKIVGNNDEDIPGTAMRRSLGLNLSPTLGSADRVNQSYEVMESSHSNVLPDQFGYRQLIPTERKASDTASSVSGSYYGSRKASKSNSLGGESGDERRVSKQDREGLDPESLMFRDGRRKVDMVLAWEEEDLGVMTEAEAKRRDNRRSFMENLIKEGLEVELEDKSQSFNEKTFFLKIHLPWRLETRLAEVMNLKLPVKRFITISVKPSWDEENVVLRNMQYWKDVWQRLTKKIQLDQTLLEGETTFKAATANGNPEEQFIVKDRATAFTSAQRSLMVMQVLIRTPFDESDRSGIRRLMNDGTYLGCFPLHEGRYDRPHSSGISLDRRVLYQTWAHPSQWYKKQPLCLVRKYFGDKIALYFCWLGFYTEMLVYPAVVGTLCFIYGLATLESEDNTPSKEICNEYGTGNITLCPLCDKACSYQRLSESCLFSRLTYLFDNPSTVFFAIFMSFWATTFLELWKRKQSVLVWEWDLHNVDMDEENRPEFETNATTFRMNPVTREKEPYMSTWNRSIRFVITGSAVLFMISVVLSAVLGTILYRITLVSVIYGGGGFFVKEHAKLFTSVTAALINLVVIMILTRIYHRMAIKLTNLENPRTHTEYEDSYTFKIFFFEFMNFYSSLIYIAFFKGRFFDYPGDDQARKSEFFRLKNDICDPAGCLSELCIQLAIIMVGKQCWNNFMEYLFPKFWNWWRQRKHKQATKDESHLHMAWEQDYHMQDPGRLALFDEYLEMILQYGFVTLFVAAFPLAPLFALLNNVAEIRLDAYKMVTQARRPLAERVEDIGAWYGILRIITYTAVVSNAFVIAYTSDFIPRMVYKFVYSETHTLAGYIEHSLSIFNTSDYKEEWGASVSEKDPDTCQYRGYRNGPKDYEPYGLSPHYWHVFAARLAFVVVFEHVVFVITGIMQFIIPDVPSEVKTQMQREQLLAKEAKYQHGIKRAQGDSQDIMSLFRDTSNRASIAGSTVTTRGSWARRFSRLSDGLDAHVEVAARPRRSVESTVWEVSXHEEEAESEAQDQSKR", "length": 1245, "header": "tr|M9PI24-1|M9PI24_DROME Isoform 1 of Anoctamin OS=Drosophila melanogaster OX=7227 GN=Dmel\\CG6938 PE=3 SV=1 CANONICAL=M9PI24-1" }, "locus": { "chromosome": "3L", "start_pos": 11990389, "end_pos": 11985974, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0330171", "url": "https://www.ensembl.org/id/FBtr0330171" }, { "database": "Ensembl Peptide", "id": "FBpp0303204", "url": "https://www.ensembl.org/id/FBpp0303204" } ] } }, { "isoform_ac": "Q9VTS0-1", "url": "", "sequence": { "sequence": "MSSQEGRSGERSHIFQIRIDSVEDESTAPITEANSREDLIGSAAQEGDRISEQSVFQFPRFLSVPTLRSPRQSPDPSTTRQVMSSPAKSERMSRRSQTKLRPRRLSQDSGIVAGRLIGYGEGALIDSDLQPRHVESDPIDSVYSCQASHNVPVDSPSKPATPIPPKSKLSASRARAGSAAYTEKWLNSSVMRTSNGNPLFPKSNAIARPLPTHLEADSAEPSPTQAFGPKIVGNNDEDIPGTAMRRSLGLNLSPTLGSADRVNQSYEVMESSHSNVLPDQFGYRQLIPTERKASDTASSVSGSYYGSRKASKSNSLGGESGDERRVSKQDREGLDPESLMFRDGRRKVDMVLAWEEEDLGVMTEAEAKRRDNRRSFMENLIKEGLEVELEDKSQSFNEKTFFLKIHLPWRLETRLAEVMNLKLPVKRFITISVKPSWDEENVVLRNMQYWKDVWQRLTKKIQLDQTLLEGETTFKAATANGNPEEQFIVKDRATAFTSAQRSLMVMQVLIRTPFDESDRSGIRRLMNDGTYLGCFPLHEGRYDRPHSSGISLDRRVLYQTWAHPSQWYKKQPLCLVRKYFGDKIALYFCWLGFYTEMLVYPAVVGTLCFIYGLATLESEDNTPSKEICNEYGTGNITLCPLCDKACSYQRLSESCLFSRLTYLFDNPSTVFFAIFMSFWATTFLELWKRKQSVLVWEWDLHNVDMDEENRPEFETNATTFRMNPVTREKEPYMSTWNRSIRFVITGSAVLFMISVVLSAVLGTILYRITLVSVIYGGGGFFVKEHAKLFTSVTAALINLVVIMILTRIYHRMAIKLTNLENPRTHTEYEDSYTFKIFFFEFMNFYSSLIYIAFFKGRFFDYPGDDQARKSEFFRLKNDICDPAGCLSELCIQLAIIMVGKQCWNNFMEYLFPKFWNWWRQRKHKQATKDESHLHMAWEQDYHMQDPGRLALFDEYLEMILQYGFVTLFVAAFPLAPLFALLNNVAEIRLDAYKMVTQARRPLAERVEDIGAWYGILRIITYTAVVSNAFVIAYTSDFIPRMVYKFVYSETHTLAGYIEHSLSIFNTSDYKEEWGASVSEKDPDTCQYRGYRNGPKDYEPYGLSPHYWHVFAARLAFVVVFEHVVFVITGIMQFIIPDVPSEVKTQMQREQLLAKEAKYQHGIKRAQGDSQDIMSLFRDTSNRASIAGSTVTTRGSWARRFSRLSDGLDAHVEVAARPRRSVESTVWEVS", "length": 1229, "header": "tr|Q9VTS0-1|M9PI24_DROME Computationally mapped isoform of Anoctamin OS=Drosophila melanogaster OX=7227 GN=Dmel\\CG6938 PE=3 SV=2 CANONICAL=M9PI24-1" }, "locus": { "chromosome": "3L", "start_pos": 11990341, "end_pos": 11985974, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0290131", "url": "https://www.ensembl.org/id/FBtr0290131" }, { "database": "Ensembl Peptide", "id": "FBpp0288570", "url": "https://www.ensembl.org/id/FBpp0288570" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "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": "Q9VTS0", "url": "https://www.uniprot.org/uniprot/Q9VTS0" }, { "database": "UniProtKB", "id": "M9PI24", "url": "https://www.uniprot.org/uniprot/M9PI24" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence.", "journal": "Genome Biol.", "date": "2002", "authors": "Celniker SE, Wheeler DA, Kronmiller B, Carlson JW, Halpern A, Patel S, Adams M, Champe M, Dugan SP, Frise E, Hodgson A, George RA, Hoskins RA, Laverty T, Muzny DM, Nelson CR, Pacleb JM, Park S, Pfeiffer BD, Richards S, Sodergren EJ, Svirskas R, Tabor PE, Wan K, Stapleton M, Sutton GG, Venter C, Weinstock G, Scherer SE, Myers EW, Gibbs RA, Rubin GM", "evidence": [ { "database": "UniProtKB", "id": "Q9VTS0", "url": "https://www.uniprot.org/uniprot/Q9VTS0" }, { "database": "UniProtKB", "id": "M9PI24", "url": "https://www.uniprot.org/uniprot/M9PI24" } ], "reference": [ { "type": "PubMed", "id": "12537568", "url": "https://glygen.org/publication/PubMed/12537568" } ] }, { "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": "Q9VTS0", "url": "https://www.uniprot.org/uniprot/Q9VTS0" }, { "database": "UniProtKB", "id": "M9PI24", "url": "https://www.uniprot.org/uniprot/M9PI24" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] }, { "title": "The transposable elements of the Drosophila melanogaster euchromatin: a genomics perspective.", "journal": "Genome Biol.", "date": "2002", "authors": "Kaminker JS, Bergman CM, Kronmiller B, Carlson J, Svirskas R, Patel S, Frise E, Wheeler DA, Lewis SE, Rubin GM, Ashburner M, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "Q9VTS0", "url": "https://www.uniprot.org/uniprot/Q9VTS0" }, { "database": "UniProtKB", "id": "M9PI24", "url": "https://www.uniprot.org/uniprot/M9PI24" } ], "reference": [ { "type": "PubMed", "id": "12537573", "url": "https://glygen.org/publication/PubMed/12537573" } ] }, { "title": "Heterochromatic sequences in a Drosophila whole-genome shotgun assembly.", "journal": "Genome Biol.", "date": "2002", "authors": "Hoskins RA, Smith CD, Carlson JW, Carvalho AB, Halpern A, Kaminker JS, Kennedy C, Mungall CJ, Sullivan BA, Sutton GG, Yasuhara JC, Wakimoto BT, Myers EW, Celniker SE, Rubin GM, Karpen GH", "evidence": [ { "database": "UniProtKB", "id": "Q9VTS0", "url": "https://www.uniprot.org/uniprot/Q9VTS0" }, { "database": "UniProtKB", "id": "M9PI24", "url": "https://www.uniprot.org/uniprot/M9PI24" } ], "reference": [ { "type": "PubMed", "id": "12537574", "url": "https://glygen.org/publication/PubMed/12537574" } ] }, { "title": "Combined evidence annotation of transposable elements in genome sequences.", "journal": "PLoS Comput. Biol.", "date": "2005", "authors": "Quesneville H, Bergman CM, Andrieu O, Autard D, Nouaud D, Ashburner M, Anxolabehere D", "evidence": [ { "database": "UniProtKB", "id": "Q9VTS0", "url": "https://www.uniprot.org/uniprot/Q9VTS0" }, { "database": "UniProtKB", "id": "M9PI24", "url": "https://www.uniprot.org/uniprot/M9PI24" } ], "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": "Q9VTS0", "url": "https://www.uniprot.org/uniprot/Q9VTS0" }, { "database": "UniProtKB", "id": "M9PI24", "url": "https://www.uniprot.org/uniprot/M9PI24" } ], "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, Villasante A, Dimitri P, Karpen GH, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "Q9VTS0", "url": "https://www.uniprot.org/uniprot/Q9VTS0" }, { "database": "UniProtKB", "id": "M9PI24", "url": "https://www.uniprot.org/uniprot/M9PI24" } ], "reference": [ { "type": "PubMed", "id": "17569867", "url": "https://glygen.org/publication/PubMed/17569867" } ] } ], "pathway": [ { "id": "dme:Dmel_CG6938", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG6938", "resource": "KEGG Pathway" }, { "id": "R-DME-2672351", "name": "Stimuli-sensing channels", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-2672351", "resource": "Reactome", "description": "Stimuli-sensing channels" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "M9PI24", "url": "https://www.uniprot.org/uniprot/M9PI24" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "protein dimerization activity", "id": "GO:0046983", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046983", "evidence": [ { "database": "UniProtKB", "id": "M9PI24", "url": "https://www.uniprot.org/uniprot/M9PI24" } ], "pmid": "" }, { "name": "intracellular calcium activated chloride channel activity", "id": "GO:0005229", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005229", "evidence": [ { "database": "UniProtKB", "id": "M9PI24", "url": "https://www.uniprot.org/uniprot/M9PI24" } ], "pmid": "" }, { "name": "chloride channel activity", "id": "GO:0005254", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005254", "evidence": [ { "database": "UniProtKB", "id": "M9PI24", "url": "https://www.uniprot.org/uniprot/M9PI24" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "chloride transport", "id": "GO:0006821", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006821", "evidence": [ { "database": "UniProtKB", "id": "M9PI24", "url": "https://www.uniprot.org/uniprot/M9PI24" } ], "pmid": "" }, { "name": "chloride transmembrane transport", "id": "GO:1902476", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902476", "evidence": [ { "database": "UniProtKB", "id": "M9PI24", "url": "https://www.uniprot.org/uniprot/M9PI24" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1065, "end_pos": 1067, "annotation": "n_glycosylation_sequon" }, { "start_pos": 187, "end_pos": 189, "annotation": "n_glycosylation_sequon" }, { "start_pos": 251, "end_pos": 253, "annotation": "n_glycosylation_sequon" }, { "start_pos": 263, "end_pos": 265, "annotation": "n_glycosylation_sequon" }, { "start_pos": 635, "end_pos": 637, "annotation": "n_glycosylation_sequon" }, { "start_pos": 716, "end_pos": 718, "annotation": "n_glycosylation_sequon" }, { "start_pos": 737, "end_pos": 739, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }