{ "uniprot_canonical_ac": "Q9VIH7-1", "uniprot_ac": "Q9VIH7", "uniprot_id": "SKY_DROME", "mass": { "chemical_mass": 67328.0, "monoisotopic_mass": 67328.0 }, "refseq": { "ac": "NP_724300", "name": "skywalker, isoform E", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_724300" }, "gene_names": [ { "name": "sky", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9VIH7", "id": "Q9VIH7" }, { "name": "CG14399", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VIH7", "id": "Q9VIH7" }, { "name": "CG9339", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VIH7", "id": "Q9VIH7" }, { "name": "CG9340", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VIH7", "id": "Q9VIH7" }, { "name": "Dmel\\CG9339", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VIH7", "id": "Q9VIH7" }, { "name": "Dmel_CG9339", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VIH7", "id": "Q9VIH7" }, { "name": "Sky", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VIH7", "id": "Q9VIH7" }, { "name": "anon-WO0118547.455; CG14399; CG9339; CG9340; Dmel\\CG9339; Sky", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260650", "id": "NP_001260650" }, { "name": "anon-WO0118547.455", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9VIH7", "id": "Q9VIH7" }, { "name": "sky", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260650", "id": "NP_001260650" } ], "protein_names": [ { "name": "GTPase-activating protein skywalker", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9VIH7" }, { "name": "CG9339-PC; sky-PC; skywalker", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_724304", "id": "NP_724304" }, { "name": "CG9339-PE; sky-PE; skywalker", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_724300", "id": "NP_724300" }, { "name": "CG9339-PI; sky-PI; skywalker", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001163026", "id": "NP_001163026" }, { "name": "CG9339-PK; sky-PK; skywalker", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260650", "id": "NP_001260650" }, { "name": "CG9339-PL; sky-PL; skywalker", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260651", "id": "NP_001260651" }, { "name": "skywalker, isoform C", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_724304", "id": "NP_724304" }, { "name": "skywalker, isoform E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_724300", "id": "NP_724300" }, { "name": "skywalker, isoform I", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001163026", "id": "NP_001163026" }, { "name": "skywalker, isoform K", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260650", "id": "NP_001260650" }, { "name": "skywalker, isoform L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260651", "id": "NP_001260651" } ], "function": [ { "annotation": "GTPase-activating protein (GAP) for Rab35 which regulates synaptic vesicle (SV) protein recycling and turnover at the neuromuscular junction boutons and possibly ventral nerve cord via endosomal trafficking (PubMed:21458671, PubMed:25422373, PubMed:27669036). Inhibits Rab35-mediated endosomal sorting which traffics old or dysfunctional SV proteins through a degradative endolysosomal route that involves the ESCRT pathway and the HOPS complex members dor, vps39 and rab7 (PubMed:21458671, PubMed:25422373). This function is essential for preventing excessive degradation and turnover of vesicles from the readily releasable pool which leads to increased neurotransmission and eventually neurodegeneration (PubMed:21458671, PubMed:25422373, PubMed:27669036). Preferentially binds phosphoinositides phosphorylated at the D5 position of the inositol ring, such as phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:27669036). Binding to phosphoinositides and thus membrane-association, is required for its function in regulating the turnover of synaptic-vesicle proteins (PubMed:27669036). It is therefore likely that it is recruited to vesicle membranes with high phosphoinositide content and thereby selectively prevents endolysosomal degradation of these vesicles (PubMed:27669036).", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7#function" }, { "database": "PubMed", "id": "27669036", "url": "https://glygen.org/publication/PubMed/27669036" }, { "database": "PubMed", "id": "25422373", "url": "https://glygen.org/publication/PubMed/25422373" }, { "database": "PubMed", "id": "21458671", "url": "https://glygen.org/publication/PubMed/21458671" } ] } ], "disease": [ { "disease_id": "DOID:0050563", "recommended_name": { "id": "DOID:0050563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050563", "name": "nonsyndromic deafness", "description": "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms." }, "synonyms": [ { "id": "DOID:0050563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050563", "name": "nonsyndromic hearing loss", "description": "" }, { "id": "DOID:0050563", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050563", "name": "nonsyndromic hereditary hearing loss", "description": "" } ], "evidence": [ { "id": "0050563", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050563" } ] }, { "disease_id": "DOID:0060475", "recommended_name": { "id": "DOID:0060475", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060475", "name": "myoclonic-atonic epilepsy", "description": "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25." }, "synonyms": [ { "id": "DOID:0060475", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060475", "name": "childhood onset epileptic encephalopathy", "description": "" }, { "id": "DOID:0060475", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060475", "name": "EEOC", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "myoclonic-atonic epilepsy", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "myoclonic-atonic epilepsy", "description": "" }, { "id": "MONDO:0014633", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014633", "name": "mae", "description": "" }, { "id": "MIM:616421", "resource": "MIM", "url": "https://www.omim.org/entry/616421", "name": "Myoclonic-atonic epilepsy", "description": "Myoclonic-atonic epilepsy" } ], "evidence": [ { "id": "0060475", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060475" } ] }, { "disease_id": "DOID:0080449", "recommended_name": { "id": "DOID:0080449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080449", "name": "developmental and epileptic encephalopathy 16", "description": "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0080449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080449", "name": "early infantile epileptic encephalopathy 16", "description": "" }, { "id": "DOID:0080449", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080449", "name": "DEE16", "description": "" }, { "id": "MONDO:0014133", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014133", "name": "developmental and epileptic encephalopathy, 16", "description": "" }, { "id": "MONDO:0014133", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014133", "name": "DEE16", "description": "" }, { "id": "MONDO:0014133", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014133", "name": "EIEE16", "description": "" }, { "id": "MONDO:0014133", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014133", "name": "developmental and epileptic encephalopathy 16", "description": "" }, { "id": "MONDO:0014133", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014133", "name": "epileptic encephalopathy, early infantile, 16", "description": "" }, { "id": "MONDO:0014133", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014133", "name": "epileptic encephalopathy, early infantile, type 16", "description": "" }, { "id": "MIM:615338", "resource": "MIM", "url": "https://www.omim.org/entry/615338", "name": "Developmental and epileptic encephalopathy 16", "description": "Developmental and epileptic encephalopathy 16" } ], "evidence": [ { "id": "0080449", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080449" } ] }, { "disease_id": "DOID:0110532", "recommended_name": { "id": "DOID:0110532", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110532", "name": "autosomal recessive nonsyndromic deafness 86", "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0110532", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110532", "name": "DFNB86", "description": "" }, { "id": "DOID:0110532", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110532", "name": "autosomal recessive deafness 86", "description": "" }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "autosomal recessive nonsyndromic hearing loss 86", "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "DFNB86", "description": "" }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "TBC1D24 autosomal recessive nonsyndromic deafness", "description": "" }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "autosomal recessive deafness 86", "description": "" }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "autosomal recessive nonsyndromic deafness 86", "description": "" }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24", "description": "" }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "autosomal recessive nonsyndromic deafness type 86", "description": "" }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "deafness, autosomal recessive 86", "description": "" }, { "id": "MONDO:0013826", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013826", "name": "deafness, autosomal recessive type 86", "description": "" }, { "id": "MIM:614617", "resource": "MIM", "url": "https://www.omim.org/entry/614617", "name": "Deafness, autosomal recessive, 86", "description": "Deafness, autosomal recessive, 86" } ], "evidence": [ { "id": "0110532", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110532" } ] }, { "disease_id": "DOID:0110586", "recommended_name": { "id": "DOID:0110586", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110586", "name": "autosomal dominant nonsyndromic deafness 65", "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13." }, "synonyms": [ { "id": "DOID:0110586", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110586", "name": "DFNA65", "description": "" }, { "id": "DOID:0110586", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110586", "name": "autosomal dominant deafness 65", "description": "" }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "autosomal dominant nonsyndromic hearing loss 65", "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "DFNA65", "description": "" }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "TBC1D24 autosomal dominant nonsyndromic deafness", "description": "" }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "autosomal dominant deafness 65", "description": "" }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "autosomal dominant nonsyndromic deafness 65", "description": "" }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24", "description": "" }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "autosomal dominant nonsyndromic deafness type 65", "description": "" }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "deafness, autosomal dominant 65", "description": "" }, { "id": "MONDO:0014470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014470", "name": "deafness, autosomal dominant type 65", "description": "" }, { "id": "MIM:616044", "resource": "MIM", "url": "https://www.omim.org/entry/616044", "name": "Deafness, autosomal dominant, 65", "description": "Deafness, autosomal dominant, 65" } ], "evidence": [ { "id": "0110586", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110586" } ] }, { "disease_id": "DOID:0111627", "recommended_name": { "id": "DOID:0111627", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111627", "name": "DOORS syndrome", "description": "A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0111627", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111627", "name": "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome", "description": "" }, { "id": "DOID:0111627", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111627", "name": "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome", "description": "" }, { "id": "DOID:0111627", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111627", "name": "DOOR syndrome", "description": "" }, { "id": "DOID:0111627", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111627", "name": "DOORS", "description": "" }, { "id": "DOID:0111627", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111627", "name": "deafness-onychoosteodystrophy-intellectual disability syndrome", "description": "" }, { "id": "DOID:0111627", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111627", "name": "autosomal recessive deafness-onychodystrophy syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "DOORS syndrome", "description": "DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome." }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "DOORS syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "autosomal recessive deafness-onychodystrophy syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "deafness-onychoosteodystrophy-intellectual disability syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "door syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "DOORS", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "Digitorenocerebral syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "Eronen syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "brachydactyly due to absence of distal phalanges", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "deafness onychodystrophy osteodystrophy and intellectual disability syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "deafness onychodystrophy osteodystrophy and mental retardation syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome", "description": "" }, { "id": "MONDO:0009079", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009079", "name": "drc syndrome", "description": "" }, { "id": "MIM:220500", "resource": "MIM", "url": "https://www.omim.org/entry/220500", "name": "Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome", "description": "Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome" } ], "evidence": [ { "id": "0111627", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111627" } ] }, { "disease_id": "DOID:0111645", "recommended_name": { "id": "DOID:0111645", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111645", "name": "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome", "description": "An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3." }, "synonyms": [ { "id": "DOID:0111645", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111645", "name": "EPRPDC", "description": "" }, { "id": "DOID:0111645", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111645", "name": "RE-PED-WC", "description": "" }, { "id": "DOID:0111645", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111645", "name": "Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp", "description": "" }, { "id": "DOID:0111645", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111645", "name": "Rolandic-type focal motor epilepsy and exercise-induced dystonia", "description": "" }, { "id": "MONDO:0011970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011970", "name": "rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome", "description": "" }, { "id": "MONDO:0011970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011970", "name": "epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp", "description": "" }, { "id": "MONDO:0011970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011970", "name": "EPRPDC", "description": "" }, { "id": "MONDO:0011970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011970", "name": "Re-ped-Wc", "description": "" }, { "id": "MONDO:0011970", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011970", "name": "epilepsy, ROLANDIC, with paroxysmal exercise-induced dystonia and writer'S cramp", "description": "" }, { "id": "MIM:608105", "resource": "MIM", "url": "https://www.omim.org/entry/608105", "name": "Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp", "description": "Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp" } ], "evidence": [ { "id": "0111645", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111645" } ] }, { "disease_id": "DOID:11832", "recommended_name": { "id": "DOID:11832", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11832", "name": "visual epilepsy", "description": "" }, "synonyms": [ { "id": "DOID:11832", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11832", "name": "epilepsy, visual", "description": "" } ], "evidence": [ { "id": "11832", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11832" } ] }, { "disease_id": "DOID:1289", "recommended_name": { "id": "DOID:1289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1289", "name": "neurodegenerative disease", "description": "A central nervous system disease that results in the progressive deterioration of function or structure of neurons." }, "synonyms": [ { "id": "DOID:1289", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1289", "name": "degenerative disease", "description": "" } ], "evidence": [ { "id": "1289", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1289" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 281, "end_pos": 281, "sequence_org": "R", "sequence_mut": "C", "comment": "Reduced binding to liposomes under low phosphatidylinositol 4,5-bisphosphate (PIP2) concentrations. Reduced binding to inositol 1,4,5-trisphosphate (IP3). In contrast to wild-type, expression only partially rescues the accumulation of sub-boutonic foci.", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" }, { "database": "PubMed", "id": "27669036", "url": "https://glygen.org/publication/PubMed/27669036" } ] }, { "start_pos": 335, "end_pos": 335, "sequence_org": "R", "sequence_mut": "P", "comment": "Little effect on binding to liposomes, phosphatidylinositol 4,5-bisphosphate and inositol 1,4,5-trisphosphate.", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" }, { "database": "PubMed", "id": "27669036", "url": "https://glygen.org/publication/PubMed/27669036" } ] }, { "start_pos": 543, "end_pos": 543, "sequence_org": "G", "sequence_mut": "R", "comment": "In sky-1; embryonic lethal.", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" }, { "database": "PubMed", "id": "21458671", "url": "https://glygen.org/publication/PubMed/21458671" } ] }, { "start_pos": 79, "end_pos": 79, "sequence_org": "R", "sequence_mut": "C", "comment": "Loss of binding to liposomes containing phosphoinositides. In contrast to wild-type protein whose expression largely rescues mutant phenotypes, expression in mutant neurons only partially rescues the increase in synapse mobility and the abherent accumulation of large cisternal or endosomal-like structures in pre-synaptic terminals observed in mutants. In addition, the number of mutants displaying defective motor coordination, defective flight, hyperactivity, increased temperature sensitivity and seziures is increased compared to mutants expressing wild-type protein.", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" }, { "database": "PubMed", "id": "27669036", "url": "https://glygen.org/publication/PubMed/27669036" } ] } ], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "sky", "url": "https://www.uniprot.org/uniprot/Q9VIH7", "locus": { "chromosome": "2L", "start_pos": 20871335, "end_pos": 20918931, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0032901", "url": "https://www.ensembl.org/id/FBgn0032901" } ] } } ], "crossref": [ { "id": "FBgn0032901", "url": "https://bgee.org/?page=gene&gene_id=FBgn0032901", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "FBgn0032901", "url": "https://flybase.org/reports/FBgn0032901", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "35359", "url": "https://www.ncbi.nlm.nih.gov/gene/35359", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q0E8N9", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q0E8N9*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "Q9VIH6", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9VIH6*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "Q9VIH7", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9VIH7*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000195", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000195", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006571", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006571", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035969", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035969", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG9339", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG9339", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "VRIMDCF", "url": "https://omabrowser.org/oma/group/VRIMDCF/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5396136at2759", "url": "http://www.orthodb.org/?query=5396136at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23354", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23354", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23354:SF122", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23354:SF122", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "5HJN", "url": "https://www.rcsb.org/structure/5HJN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5HJQ", "url": "https://www.rcsb.org/structure/5HJQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6R82", "url": "https://www.rcsb.org/structure/6R82", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00566", "url": "http://pfam.xfam.org/family/PF00566", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07534", "url": "http://pfam.xfam.org/family/PF07534", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q9VIH7", "url": "http://purl.obolibrary.org/obo/PR_Q9VIH7", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001163026", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001163026", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "M9PDI9", "url": "https://www.uniprot.org/uniprot/M9PDI9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M9PDI9-1", "url": "https://www.uniprot.org/uniprot/M9PDI9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M9PDV9", "url": "https://www.uniprot.org/uniprot/M9PDV9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M9PDV9-1", "url": "https://www.uniprot.org/uniprot/M9PDV9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q0E8N9", "url": "https://www.uniprot.org/uniprot/Q0E8N9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q0E8N9-1", "url": "https://www.uniprot.org/uniprot/Q0E8N9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VIH6", "url": "https://www.uniprot.org/uniprot/Q9VIH6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VIH6-1", "url": "https://www.uniprot.org/uniprot/Q9VIH6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VIH7-1", "url": "https://www.uniprot.org/uniprot/Q9VIH7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VIH7-2", "url": "https://www.uniprot.org/uniprot/Q9VIH7-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9VIH7-3", "url": "https://www.uniprot.org/uniprot/Q9VIH7-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPYHRGGDASSQADKLSGIVEESDLYEGFAPHVETSEIKTLDFYNLPKQTGKEPALRSYTEIQQLLQQGKKRDVKNILRENSWPINSPIRAQLWPMLCGQHQTKQQMLDGFYWEMVHQVFGTTELSEKPIMLPAFVDATHCLPYHLTSTGRAVADRIVNVLGYDCPDITYSPVLYPITSILLHFMSEEEAYICLAGLVGSKEKVFINQTKLQHEVTWKTVMQIAKKHTKSATSYFQRICPGLKLERIFMDWCWWILAGLPFQHLVRIMDCYFHEGIKVLYRVALVILNLFHKECQSNNEWSPDNIKNDIGNALIKFCKKIPVSPAKLLHAAFSIRGLSTQYISRIFIKTEMLLKSRSVLTSGSKQLIKSRSSDNLPTSQSQVNIQMMSHTLTIREHFGLPGTKNFIKTWTDRQFLFTLWSWLPVRITMYQPVLLYTTEEHGCSLTTFYVRVEQHEPTLLMIKTCNNEVFGAYCSSRWFERNVKDDKGQRQAYFGTGETFLFSLYPERAKYPWVGIEGDKDLGHSSELFMAADSKMITIGGGEGQAIWMDENIRFGKTDSCKTFNNPPLCPSGDFEIRVLEVYGFVGI", "length": 587, "header": "sp|Q9VIH7-1|SKY_DROME Isoform 1 of GTPase-activating protein skywalker OS=Drosophila melanogaster OX=7227 GN=sky PE=1 SV=2 CANONICAL=Q9VIH7-1" }, "isoforms": [ { "isoform_ac": "M9PDI9-1", "url": "", "sequence": { "sequence": "MPYHRGGDASSQADKLSGIVEESDLYEGFAPHVETSEIKTLDFYNLPKQTGKEPALRSYTEIQQLLQQGKKRDVKNILRENSWPINSPIRAQLWPMLCGQHQTKQQMLDGFYWEMVHQVFGTTELSEKPIMLPAFVDATHCLPYHLTSTGRAVADRIVNVLGYDCPDITYSPVLYPITSILLHFMSEEEAYICLAGLVGSKEKVFINQTKLQHEVTWKTVMQIAKKHTKSATSYFQRICPGLKLERIFMDWCWWILAGLPFQHLVRIMDCYFHEGIKVLYRVALVILNLFHKECQSNNEWSPDNIKNDIGNALIKFCKKIPVSPAKLLHAAFSIRGLSTQYISRIFIKTEMLLKSRSVLTSGSKQLIKSRSSDNLPTSQSQVNIQMMSHTLTIRELHSESCRNLGEKSPGHRAIAMGVYPIHNLKSQACKNEDLFTLWSWLPVRITMYQPVLLYTTEEHGCSLTTFYVRVEQHEPTLLMIKTCNNEVFGAYCSSRWFERNVKDDKGQRQAYFGTGETFLFSLYPERAKYPWVGIEGDKDLGHSSELFMAADSKMITIGGGEGQAIWMDENIRFGKTDSCKTFNNPPLCPSGDFEIRVLEVYGFVGI", "length": 606, "header": "tr|M9PDI9-1|SKY_DROME Computationally mapped isoform of GTPase-activating protein skywalker OS=Drosophila melanogaster OX=7227 GN=sky PE=1 SV=1 CANONICAL=Q9VIH7-1" }, "locus": { "chromosome": "2L", "start_pos": 20903166, "end_pos": 20873752, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0330257", "url": "https://www.ensembl.org/id/FBtr0330257" }, { "database": "Ensembl Peptide", "id": "FBpp0303289", "url": "https://www.ensembl.org/id/FBpp0303289" } ] } }, { "isoform_ac": "M9PDV9-1", "url": "", "sequence": { "sequence": "MPYHRGGDASSQADKLSGIVEESDLYEGFAPHVETSEIKTLDFYNLPKQTGKEPALRSYTEIQQLLQQGKKRDVKNILRENSWPINSPIRAQLWPMLCGQHQTKQQMLDGFYWEMVHQVFGTTELSEKPIMLPAFVDATHCLPYHLTSTGRAVADRIVNVLGYDCPDITYSPVLYPITSILLHFMSEEEAYICLAGLVGSKEKVFINQTKLQHEVTWKTVMQIAKKHTKSATSYFQRICPGLKLERIFMDWCWWILAGLPFQHLVRIMDCYFHEGIKVLYRVALVILNLFHKECQSNNEWSPDNIKNDIGNALIKFCKKIPVSPAKLLHAAFSIRGLSTQYISRIFIKTEMLLKSRSVLTSGSKQLIKSRSSDNLPTSQSQVNIQMMSHTLTIREGEKSPGHRAIAMGVYPIHNLKSQACKNEDLFTLWSWLPVRITMYQPVLLYTTEEHGCSLTTFYVRVEQHEPTLLMIKTCNNEVFGAYCSSRWFERNVKDDKGQRQAYFGTGETFLFSLYPERAKYPWVGIEGDKDLGHSSELFMAADSKMITIGGGEGQAIWMDENIRFGKTDSCKTFNNPPLCPSGDFEIRVLEVYGFVGI", "length": 597, "header": "tr|M9PDV9-1|SKY_DROME Computationally mapped isoform of GTPase-activating protein skywalker OS=Drosophila melanogaster OX=7227 GN=sky PE=1 SV=1 CANONICAL=Q9VIH7-1" }, "locus": { "chromosome": "2L", "start_pos": 20903166, "end_pos": 20873752, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0330256", "url": "https://www.ensembl.org/id/FBtr0330256" }, { "database": "Ensembl Peptide", "id": "FBpp0303288", "url": "https://www.ensembl.org/id/FBpp0303288" } ] } }, { "isoform_ac": "Q0E8N9-1", "url": "", "sequence": { "sequence": "MPYHRGGDASSQADKLSGIVEESDLYEGFAPHVETSEIKTLDFYNLPKQTGKEPALRSYTEIQQLLQQGKKRDVKNILRENSWPINSPIRAQLWPMLCGQHQTKQQMLDGFYWEMVHQVFGTTELSEKPIMLPAFVDATHCLPYHLTSTGRAVADRIVNVLGYDCPDITYSPVLYPITSILLHFMSEEEAYICLAGLVGSKEKVFINQTKLQHEVTWKTVMQIAKKHTKSATSYFQRICPGLKLERIFMDWCWWILAGLPFQHLVRIMDCYFHEGIKVLYRVALVILNLFHKECQSNNEWSPDNIKNDIGNALIKFCKKIPVSPAKLLHAAFSIRGLSTQYISRIFIKTEMLLKSRSVLTSGSKQLIKSRSSDNLPTSQSQVNIQMMSHTLTIRELFTLWSWLPVRITMYQPVLLYTTEEHGCSLTTFYVRVEQHEPTLLMIKTCNNEVFGAYCSSRWFERNVKDDKGQRQAYFGTGETFLFSLYPERAKYPWVGIEGDKDLGHSSELFMAADSKMITIGGGEGQAIWMDENIRFGKTDSCKTFNNPPLCPSGDFEIRVLEVYGFVGI", "length": 568, "header": "tr|Q0E8N9-1|SKY_DROME Computationally mapped isoform of GTPase-activating protein skywalker OS=Drosophila melanogaster OX=7227 GN=sky PE=1 SV=1 CANONICAL=Q9VIH7-1" }, "locus": { "chromosome": "2L", "start_pos": 20903166, "end_pos": 20873752, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0081443", "url": "https://www.ensembl.org/id/FBtr0081443" }, { "database": "Ensembl Peptide", "id": "FBpp0080972", "url": "https://www.ensembl.org/id/FBpp0080972" } ] } }, { "isoform_ac": "Q9VIH6-1", "url": "", "sequence": { "sequence": "MVGKVLGIKDLEQFSSRRSSVYVDPECDKFFELPLFIAASSNDITTKCQCFQFSPGKEPALRSYTEIQQLLQQGKKRDVKNILRENSWPINSPIRAQLWPMLCGQHQTKQQMLDGFYWEMVHQVFGTTELSEKPIMLPAFVDATHCLPYHLTSTGRAVADRIVNVLGYDCPDITYSPVLYPITSILLHFMSEEEAYICLAGLVGSKEKVFINQTKLQHEVTWKTVMQIAKKHTKSATSYFQRICPGLKLERIFMDWCWWILAGLPFQHLVRIMDCYFHEGIKVLYRVALVILNLFHKECQSNNEWSPDNIKNDIGNALIKFCKKIPVSPAKLLHAAFSIRGLSTQYISRIFIKTEMLLKSRSVLTSGSKQLIKSRSSDNLPTSQSQVNIQMMSHTLTIREHFGLPGTKNFIKTWTDRQFLFTLWSWLPVRITMYQPVLLYTTEEHGCSLTTFYVRVEQHEPTLLMIKTCNNEVFGAYCSSRWFERNVKDDKGQRQAYFGTGETFLFSLYPERAKYPWVGIEGDKDLGHSSELFMAADSKMITIGGGEGQAIWMDENIRFGKTDSCKTFNNPPLCPSGDFEIRVLEVYGFVGI", "length": 592, "header": "tr|Q9VIH6-1|Q9VIH6_DROME Computationally mapped isoform of Skywalker, isoform C OS=Drosophila melanogaster OX=7227 GN=sky PE=4 SV=2 CANONICAL=Q9VIH7-1" }, "locus": { "chromosome": "2L", "start_pos": 20885454, "end_pos": 20873752, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0081444", "url": "https://www.ensembl.org/id/FBtr0081444" }, { "database": "Ensembl Peptide", "id": "FBpp0080973", "url": "https://www.ensembl.org/id/FBpp0080973" } ] } }, { "isoform_ac": "Q9VIH7-1", "url": "", "sequence": { "sequence": "MPYHRGGDASSQADKLSGIVEESDLYEGFAPHVETSEIKTLDFYNLPKQTGKEPALRSYTEIQQLLQQGKKRDVKNILRENSWPINSPIRAQLWPMLCGQHQTKQQMLDGFYWEMVHQVFGTTELSEKPIMLPAFVDATHCLPYHLTSTGRAVADRIVNVLGYDCPDITYSPVLYPITSILLHFMSEEEAYICLAGLVGSKEKVFINQTKLQHEVTWKTVMQIAKKHTKSATSYFQRICPGLKLERIFMDWCWWILAGLPFQHLVRIMDCYFHEGIKVLYRVALVILNLFHKECQSNNEWSPDNIKNDIGNALIKFCKKIPVSPAKLLHAAFSIRGLSTQYISRIFIKTEMLLKSRSVLTSGSKQLIKSRSSDNLPTSQSQVNIQMMSHTLTIREHFGLPGTKNFIKTWTDRQFLFTLWSWLPVRITMYQPVLLYTTEEHGCSLTTFYVRVEQHEPTLLMIKTCNNEVFGAYCSSRWFERNVKDDKGQRQAYFGTGETFLFSLYPERAKYPWVGIEGDKDLGHSSELFMAADSKMITIGGGEGQAIWMDENIRFGKTDSCKTFNNPPLCPSGDFEIRVLEVYGFVGI", "length": 587, "header": "sp|Q9VIH7-1|SKY_DROME Isoform 1 of GTPase-activating protein skywalker OS=Drosophila melanogaster OX=7227 GN=sky PE=1 SV=2 CANONICAL=Q9VIH7-1" }, "locus": { "chromosome": "2L", "start_pos": 20903166, "end_pos": 20873752, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0081441", "url": "https://www.ensembl.org/id/FBtr0081441" }, { "database": "Ensembl Peptide", "id": "FBpp0080970", "url": "https://www.ensembl.org/id/FBpp0080970" } ] } }, { "isoform_ac": "Q9VIH7-2", "url": "", "sequence": { "sequence": "MPYHRGGDASSQADKLSGIVEESDLYEGFAPHVETSEIKTLDFYNLPKQTGKEPALRSYTEIQQLLQQGKKRDVKNILRENSWPINSPIRAQLWPMLCGQHQTKQQMLDGFYWEMVHQVFGTTELSEKPIMLPAFVDATHCLPYHLTSTGRAVADRIVNVLGYDCPDITYSPVLYPITSILLHFMSEEEAYICLAGLVGSKEKVFINQTKLQHEVTWKTVMQIAKKHTKSATSYFQRICPGLKLERIFMDWCWWILAGLPFQHLVRIMDCYFHEGIKVLYRVALVILNLFHKECQSNNEWSPDNIKNDIGNALIKFCKKIPVSPAKLLHAAFSIRGLSTQYISRIFIKTEMLLKSRSVLTSGSKQLIKSRSSDNLPTSQSQVNIQMMSHTLTIREKLHSESCRNLGEKSPGHRAIAMGVYPIHNLKSQACKNEDLFTLWSWLPVRITMYQPVLLYTTEEHGCSLTTFYVRVEQHEPTLLMIKTCNNEVFGAYCSSRWFERNVKDDKGQRQAYFGTGETFLFSLYPERAKYPWVGIEGDKDLGHSSELFMAADSKMITIGGGEGQAIWMDENIRFGKTDSCKTFNNPPLCPSGDFEIRVLEVYGFVGI", "length": 607, "header": "sp|Q9VIH7-2|SKY_DROME Isoform 2 of GTPase-activating protein skywalker OS=Drosophila melanogaster OX=7227 GN=sky PE=1 SV=2 CANONICAL=Q9VIH7-1" }, "locus": { "chromosome": "2L", "start_pos": 20903166, "end_pos": 20873752, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0330255", "url": "https://www.ensembl.org/id/FBtr0330255" }, { "database": "Ensembl Peptide", "id": "FBpp0303287", "url": "https://www.ensembl.org/id/FBpp0303287" } ] } }, { "isoform_ac": "Q9VIH7-3", "url": "", "sequence": { "sequence": "MVGKVLGIKDLEQFSSRRSSVYVDPECDKFFELPLFIAASSNDITTKCQCFQFSPGKEPALRSYTEIQQLLQQGKKRDVKNILRENSWPINSPIRAQLWPMLCGQHQTKQQMLDGFYWEMVHQVFGTTELSEKPIMLPAFVDATHCLPYHLTSTGRAVADRIVNVLGYDCPDITYSPVLYPITSILLHFMSEEEAYICLAGLVGSKEKVFINQTKLQHEVTWKTVMQIAKKHTKSATSYFQRICPGLKLERIFMDWCWWILAGLPFQHLVRIMDCYFHEGIKVLYRVALVILNLFHKECQSNNEWSPDNIKNDIGNALIKFCKKIPVSPAKLLHAAFSIRGLSTQYISRIFIKTEMLLKSRSVLTSGSKQLIKSRSSDNLPTSQSQVNIQMMSHTLTIRELFTLWSWLPVRITMYQPVLLYTTEEHGCSLTTFYVRVEQHEPTLLMIKTCNNEVFGAYCSSRWFERNVKDDKGQRQAYFGTGETFLFSLYPERAKYPWVGIEGDKDLGHSSELFMAADSKMITIGGGEGQAIWMDENIRFGKTDSCKTFNNPPLCPSGDFEIRVLEVYGFVGI", "length": 573, "header": "sp|Q9VIH7-3|SKY_DROME Isoform 3 of GTPase-activating protein skywalker OS=Drosophila melanogaster OX=7227 GN=sky PE=1 SV=2 CANONICAL=Q9VIH7-1" }, "locus": { "chromosome": "2L", "start_pos": 20885454, "end_pos": 20873752, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0301961", "url": "https://www.ensembl.org/id/FBtr0301961" }, { "database": "Ensembl Peptide", "id": "FBpp0291173", "url": "https://www.ensembl.org/id/FBpp0291173" } ] } } ], "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": "M9PDV9", "url": "https://www.uniprot.org/uniprot/M9PDV9" }, { "database": "UniProtKB", "id": "M9PDI9", "url": "https://www.uniprot.org/uniprot/M9PDI9" }, { "database": "UniProtKB", "id": "Q0E8N9", "url": "https://www.uniprot.org/uniprot/Q0E8N9" }, { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" }, { "database": "UniProtKB", "id": "Q9VIH6", "url": "https://www.uniprot.org/uniprot/Q9VIH6" } ], "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": "M9PDV9", "url": "https://www.uniprot.org/uniprot/M9PDV9" }, { "database": "UniProtKB", "id": "M9PDI9", "url": "https://www.uniprot.org/uniprot/M9PDI9" }, { "database": "UniProtKB", "id": "Q0E8N9", "url": "https://www.uniprot.org/uniprot/Q0E8N9" }, { "database": "UniProtKB", "id": "Q9VIH6", "url": "https://www.uniprot.org/uniprot/Q9VIH6" } ], "reference": [ { "type": "PubMed", "id": "12537568", "url": "https://glygen.org/publication/PubMed/12537568" } ] }, { "title": "A Drosophila full-length cDNA resource.", "journal": "Genome Biol.", "date": "2002", "authors": "Stapleton M, Carlson J, Brokstein P, Yu C, Champe M, George R, Guarin H, Kronmiller B, Pacleb J, Park S, Wan K, Rubin GM, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "reference": [ { "type": "PubMed", "id": "12537569", "url": "https://glygen.org/publication/PubMed/12537569" } ] }, { "title": "Annotation of the Drosophila melanogaster euchromatic genome: a systematic review.", "journal": "Genome Biol.", "date": "2002", "authors": "Misra S, Crosby MA, Mungall CJ, Matthews BB, Campbell KS, Hradecky P, Huang Y, Kaminker JS, Millburn GH, Prochnik SE, Smith CD, Tupy JL, Whitfied EJ, Bayraktaroglu L, Berman BP, Bettencourt BR, Celniker SE, de Grey AD, Drysdale RA, Harris NL, Richter J, Russo S, Schroeder AJ, Shu SQ, Stapleton M, Yamada C, Ashburner M, Gelbart WM, Rubin GM, Lewis SE", "evidence": [ { "database": "UniProtKB", "id": "M9PDV9", "url": "https://www.uniprot.org/uniprot/M9PDV9" }, { "database": "UniProtKB", "id": "M9PDI9", "url": "https://www.uniprot.org/uniprot/M9PDI9" }, { "database": "UniProtKB", "id": "Q0E8N9", "url": "https://www.uniprot.org/uniprot/Q0E8N9" }, { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" }, { "database": "UniProtKB", "id": "Q9VIH6", "url": "https://www.uniprot.org/uniprot/Q9VIH6" } ], "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": "M9PDV9", "url": "https://www.uniprot.org/uniprot/M9PDV9" }, { "database": "UniProtKB", "id": "M9PDI9", "url": "https://www.uniprot.org/uniprot/M9PDI9" }, { "database": "UniProtKB", "id": "Q0E8N9", "url": "https://www.uniprot.org/uniprot/Q0E8N9" }, { "database": "UniProtKB", "id": "Q9VIH6", "url": "https://www.uniprot.org/uniprot/Q9VIH6" } ], "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": "M9PDV9", "url": "https://www.uniprot.org/uniprot/M9PDV9" }, { "database": "UniProtKB", "id": "M9PDI9", "url": "https://www.uniprot.org/uniprot/M9PDI9" }, { "database": "UniProtKB", "id": "Q0E8N9", "url": "https://www.uniprot.org/uniprot/Q0E8N9" }, { "database": "UniProtKB", "id": "Q9VIH6", "url": "https://www.uniprot.org/uniprot/Q9VIH6" } ], "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": "M9PDV9", "url": "https://www.uniprot.org/uniprot/M9PDV9" }, { "database": "UniProtKB", "id": "M9PDI9", "url": "https://www.uniprot.org/uniprot/M9PDI9" }, { "database": "UniProtKB", "id": "Q0E8N9", "url": "https://www.uniprot.org/uniprot/Q0E8N9" }, { "database": "UniProtKB", "id": "Q9VIH6", "url": "https://www.uniprot.org/uniprot/Q9VIH6" } ], "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": "M9PDV9", "url": "https://www.uniprot.org/uniprot/M9PDV9" }, { "database": "UniProtKB", "id": "M9PDI9", "url": "https://www.uniprot.org/uniprot/M9PDI9" }, { "database": "UniProtKB", "id": "Q0E8N9", "url": "https://www.uniprot.org/uniprot/Q0E8N9" }, { "database": "UniProtKB", "id": "Q9VIH6", "url": "https://www.uniprot.org/uniprot/Q9VIH6" } ], "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": "M9PDV9", "url": "https://www.uniprot.org/uniprot/M9PDV9" }, { "database": "UniProtKB", "id": "M9PDI9", "url": "https://www.uniprot.org/uniprot/M9PDI9" }, { "database": "UniProtKB", "id": "Q0E8N9", "url": "https://www.uniprot.org/uniprot/Q0E8N9" }, { "database": "UniProtKB", "id": "Q9VIH6", "url": "https://www.uniprot.org/uniprot/Q9VIH6" } ], "reference": [ { "type": "PubMed", "id": "17569867", "url": "https://glygen.org/publication/PubMed/17569867" } ] }, { "title": "Loss of skywalker reveals synaptic endosomes as sorting stations for synaptic vesicle proteins.", "journal": "Cell", "date": "2011", "authors": "Uytterhoeven V, Kuenen S, Kasprowicz J, Miskiewicz K, Verstreken P", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "reference": [ { "type": "PubMed", "id": "21458671", "url": "https://glygen.org/publication/PubMed/21458671" } ] }, { "title": "Reduced synaptic vesicle protein degradation at lysosomes curbs TBC1D24/sky-induced neurodegeneration.", "journal": "J. Cell Biol.", "date": "2014", "authors": "Fernandes AC, Uytterhoeven V, Kuenen S, Wang YC, Slabbaert JR, Swerts J, Kasprowicz J, Aerts S, Verstreken P", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "reference": [ { "type": "PubMed", "id": "25422373", "url": "https://glygen.org/publication/PubMed/25422373" } ] }, { "title": "The Release 6 reference sequence of the Drosophila melanogaster genome.", "journal": "Genome Res.", "date": "2015", "authors": "Hoskins RA, Carlson JW, Wan KH, Park S, Mendez I, Galle SE, Booth BW, Pfeiffer BD, George RA, Svirskas R, Krzywinski M, Schein J, Accardo MC, Damia E, Messina G, Mendez-Lago M, de Pablos B, Demakova OV, Andreyeva EN, Boldyreva LV, Marra M, Carvalho AB, Dimitri P, Villasante A, Zhimulev IF, Rubin GM, Karpen GH, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "Q0E8N9", "url": "https://www.uniprot.org/uniprot/Q0E8N9" } ], "reference": [ { "type": "PubMed", "id": "25589440", "url": "https://glygen.org/publication/PubMed/25589440" } ] }, { "title": "Gene Model Annotations for Drosophila melanogaster: The Rule-Benders.", "journal": "G3 (Bethesda)", "date": "2015", "authors": "Crosby MA, Gramates LS, Dos Santos G, Matthews BB, St Pierre SE, Zhou P, Schroeder AJ, Falls K, Emmert DB, Russo SM, Gelbart WM", "evidence": [ { "database": "UniProtKB", "id": "Q0E8N9", "url": "https://www.uniprot.org/uniprot/Q0E8N9" } ], "reference": [ { "type": "PubMed", "id": "26109356", "url": "https://glygen.org/publication/PubMed/26109356" } ] }, { "title": "Gene Model Annotations for Drosophila melanogaster: Impact of High-Throughput Data.", "journal": "G3 (Bethesda)", "date": "2015", "authors": "Matthews BB, Dos Santos G, Crosby MA, Emmert DB, St Pierre SE, Gramates LS, Zhou P, Schroeder AJ, Falls K, Strelets V, Russo SM, Gelbart WM", "evidence": [ { "database": "UniProtKB", "id": "Q0E8N9", "url": "https://www.uniprot.org/uniprot/Q0E8N9" } ], "reference": [ { "type": "PubMed", "id": "26109357", "url": "https://glygen.org/publication/PubMed/26109357" } ] }, { "title": "Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function.", "journal": "Nat. Struct. Mol. Biol.", "date": "2016", "authors": "Fischer B, Luthy K, Paesmans J, De Koninck C, Maes I, Swerts J, Kuenen S, Uytterhoeven V, Verstreken P, Versees W", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "reference": [ { "type": "PubMed", "id": "27669036", "url": "https://glygen.org/publication/PubMed/27669036" } ] } ], "pathway": [ { "id": "dme:Dmel_CG9339", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG9339", "resource": "KEGG Pathway" } ], "orthologs": [], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "GTPase activator activity", "id": "GO:0005096", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005096", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "lipid binding", "id": "GO:0008289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008289", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 9, "go_terms": [ { "name": "neuromuscular synaptic transmission", "id": "GO:0007274", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007274", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "regulation of GTPase activity", "id": "GO:0043087", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043087", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "negative regulation of synaptic vesicle recycling", "id": "GO:1903422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903422", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "synaptic vesicle recycling via endosome", "id": "GO:0036466", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036466", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "neuron projection development", "id": "GO:0031175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "negative regulation of neurotransmitter secretion", "id": "GO:0046929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046929", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "vesicle-mediated transport in synapse", "id": "GO:0099003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099003", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "synaptic vesicle endosomal processing", "id": "GO:0099532", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099532", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 9, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "neuromuscular junction", "id": "GO:0031594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031594", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "cytoplasmic vesicle", "id": "GO:0031410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031410", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" }, { "name": "synaptic vesicle membrane", "id": "GO:0030672", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030672", "evidence": [ { "database": "UniProtKB", "id": "Q9VIH7", "url": "https://www.uniprot.org/uniprot/Q9VIH7" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 207, "end_pos": 209, "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": 15 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }