{ "uniprot_canonical_ac": "Q26365-1", "uniprot_ac": "Q26365", "uniprot_id": "ADT_DROME", "mass": { "chemical_mass": 34215.0, "monoisotopic_mass": 34215.0 }, "refseq": { "ac": "NP_001285090", "name": "stress-sensitive B, isoform E", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001285090" }, "gene_names": [ { "name": "sesB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "A-T", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "A/A-T; A/A-T/sesB; ADP/ATP translocase; ADT2; anon-WO02059370.55; ANT; ANT1; CG16944; dANT; Dmel\\CG16944; dSLC25A4; EM12; Hmr; jive; l(1)9Ed; l(1)9Fa; l(1)DC701; l(1)EM31; l(1)G0126; l(1)G0247; l(1)G0386; l(1)S12; orangi; S12; ses B; sesb; SesB; SESB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001285090", "id": "NP_001285090" }, { "name": "ADT2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "ANT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "ANT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "ATP translocase", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "CG16944", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "Dmel\\CG16944", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "Dmel_CG16944", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "EM12", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "Hmr", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "S12", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "SesB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "anon-WO02059370.55", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "dANT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "dSLC25A4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "jive", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "l(1)9Ed", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "l(1)9Fa", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "l(1)DC701", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "l(1)EM31", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "l(1)G0126", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "l(1)G0247", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "l(1)G0386", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "l(1)S12", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "orangi", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "ses B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "sesB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001285090", "id": "NP_001285090" }, { "name": "sesB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" }, { "name": "sesb", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q26365", "id": "Q26365" } ], "protein_names": [ { "name": "ADP,ATP carrier protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q26365" }, { "name": "ADP/ATP translocase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q26365" }, { "name": "ANT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q26365" }, { "name": "Adenine nucleotide translocator", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q26365" }, { "name": "CG16944-PE; sesB-PE; stress sensitive B; adenine nucleotide translocase; drosophila ANT; Stress-sensitive B; stress-sensitive; adenine nuclear translocase; lethal(1)9Ed; ADP,ATP carrier protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001285090", "id": "NP_001285090" }, { "name": "Stress-sensitive protein B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q26365" }, { "name": "stress-sensitive B, isoform E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001285090", "id": "NP_001285090" } ], "function": [ { "annotation": "ADP:ATP antiporter that mediates import of ADP into the mitochondrial matrix for ATP synthesis, and export of ATP out to fuel the cell (By similarity). Cycles between the cytoplasmic-open state (c-state) and the matrix-open state (m-state): operates by the alternating access mechanism with a single substrate-binding site intermittently exposed to either the cytosolic (c-state) or matrix (m-state) side of the inner mitochondrial membrane (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprot/Q26365#function" }, { "database": "UniProtKB", "id": "P48962", "url": "https://www.uniprot.org/uniprot/P48962#function" }, { "database": "UniProtKB", "id": "G2QNH0", "url": "https://www.uniprot.org/uniprot/G2QNH0#function" } ] }, { "annotation": "Catalyzes the exchange of ADP and ATP across the membrane.", "evidence": [ { "database": "UniProtKB", "id": "X2JB48", "url": "https://www.uniprot.org/uniprot/X2JB48#function" }, { "database": "UniProtKB", "id": "RU368008", "url": "https://www.uniprot.org/uniprot/RU368008#function" } ] } ], "disease": [ { "disease_id": "DOID:0080130", "recommended_name": { "id": "DOID:0080130", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080130", "name": "mitochondrial DNA depletion syndrome 12a", "description": "A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35." }, "synonyms": [ { "id": "MONDO:0014959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014959", "name": "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant", "description": "" }, { "id": "MONDO:0014959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014959", "name": "MTDPS12A", "description": "" }, { "id": "MONDO:0014959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014959", "name": "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD", "description": "" }, { "id": "MONDO:0014959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014959", "name": "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant", "description": "" }, { "id": "MONDO:0014959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014959", "name": "mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant; MTDPS12A", "description": "" }, { "id": "MIM:617184", "resource": "MIM", "url": "https://www.omim.org/entry/617184", "name": "Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type", "description": "Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type" } ], "evidence": [ { "id": "0080130", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080130" } ] }, { "disease_id": "DOID:0080335", "recommended_name": { "id": "DOID:0080335", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080335", "name": "mitochondrial DNA depletion syndrome 12b", "description": "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35." }, "synonyms": [ { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive", "description": "An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy." }, { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "MTDPS12B", "description": "" }, { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12", "description": "" }, { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR", "description": "" }, { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), AR", "description": "" }, { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive", "description": "" }, { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "MTDPS12", "description": "" }, { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)", "description": "" }, { "id": "MONDO:0014175", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014175", "name": "mitochondrial DNA depletion syndrome type 12", "description": "" }, { "id": "MIM:615418", "resource": "MIM", "url": "https://www.omim.org/entry/615418", "name": "Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type", "description": "Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type" } ], "evidence": [ { "id": "0080335", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080335" } ] }, { "disease_id": "DOID:0110429", "recommended_name": { "id": "DOID:0110429", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110429", "name": "dilated cardiomyopathy 1H", "description": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22." }, "synonyms": [ { "id": "DOID:0110429", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110429", "name": "dilated cardiomyopathy with conduction defect", "description": "" }, { "id": "MONDO:0011425", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011425", "name": "dilated cardiomyopathy 1H", "description": "A dilated cardiomyopathy that has material basis in variation in the chromosome region 2q14-q22." }, { "id": "MONDO:0011425", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011425", "name": "CMD1H", "description": "" }, { "id": "MONDO:0011425", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011425", "name": "dilated cardiomyopathy type 1H", "description": "" }, { "id": "MONDO:0011425", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011425", "name": "dilated cardiomyopathy with conduction defect", "description": "" }, { "id": "MONDO:0011425", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011425", "name": "cardiomyopathy, dilated, 1H", "description": "" }, { "id": "MONDO:0011425", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011425", "name": "cardiomyopathy, dilated, with conduction defect", "description": "" } ], "evidence": [ { "id": "0110429", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110429" } ] }, { "disease_id": "DOID:0111517", "recommended_name": { "id": "DOID:0111517", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111517", "name": "autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2", "description": "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1." }, "synonyms": [ { "id": "DOID:0111517", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111517", "name": "PEOA2", "description": "" }, { "id": "DOID:0111517", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111517", "name": "autosomal dominant progressive external ophthalmoplegia 2", "description": "" }, { "id": "MONDO:0012238", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012238", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2", "description": "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene." }, { "id": "MONDO:0012238", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012238", "name": "SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions", "description": "" }, { "id": "MONDO:0012238", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012238", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4", "description": "" }, { "id": "MONDO:0012238", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012238", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2", "description": "" }, { "id": "MONDO:0012238", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012238", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2", "description": "" }, { "id": "MONDO:0012238", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012238", "name": "PEOA2", "description": "" }, { "id": "MONDO:0012238", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012238", "name": "progressive external ophthalmoplegia, autosomal dominant 2", "description": "" }, { "id": "MIM:609283", "resource": "MIM", "url": "https://www.omim.org/entry/609283", "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2", "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2" } ], "evidence": [ { "id": "0111517", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111517" } ] }, { "disease_id": "DOID:10652", "recommended_name": { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." }, "synonyms": [ { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer disease", "description": "" }, { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimers dementia", "description": "" } ], "evidence": [ { "id": "10652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ] }, { "disease_id": "DOID:11727", "recommended_name": { "id": "DOID:11727", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11727", "name": "facioscapulohumeral muscular dystrophy", "description": "" }, "synonyms": [ { "id": "DOID:11727", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11727", "name": "Landouzy Dejerine muscular dystrophy", "description": "" }, { "id": "DOID:11727", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11727", "name": "Landouzy-Dejerine muscular dystrophy", "description": "" }, { "id": "DOID:11727", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11727", "name": "Muscular dystrophy, Landouzy-Dejerine", "description": "" } ], "evidence": [ { "id": "11727", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11727" } ] }, { "disease_id": "DOID:11984", "recommended_name": { "id": "DOID:11984", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause." }, "synonyms": [ { "id": "DOID:11984", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11984", "name": "hypertrophic obstructive cardiomyopathy", "description": "" } ], "evidence": [ { "id": "11984", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ] }, { "disease_id": "DOID:12558", "recommended_name": { "id": "DOID:12558", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12558", "name": "chronic progressive external ophthalmoplegia", "description": "" }, "synonyms": [ { "id": "DOID:12558", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12558", "name": "progressive external ophthalmoplegia", "description": "" }, { "id": "MONDO:0024528", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024528", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1", "description": "Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene." }, { "id": "MONDO:0024528", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024528", "name": "PEOA1", "description": "" }, { "id": "MONDO:0024528", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024528", "name": "POLG autosomal dominant progressive external ophthalmoplegia", "description": "" }, { "id": "MONDO:0024528", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024528", "name": "autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG", "description": "" }, { "id": "MONDO:0024528", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024528", "name": "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1", "description": "" }, { "id": "MONDO:0024528", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0024528", "name": "progressive external ophthalmoplegia, autosomal dominant 1", "description": "" }, { "id": "MIM:157640", "resource": "MIM", "url": "https://www.omim.org/entry/157640", "name": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1", "description": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1" } ], "evidence": [ { "id": "12558", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12558" } ] }, { "disease_id": "DOID:12935", "recommended_name": { "id": "DOID:12935", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12935", "name": "alcoholic cardiomyopathy", "description": "" }, "synonyms": [ { "id": "DOID:12935", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12935", "name": "Alcohol-induced heart muscle disease", "description": "" }, { "id": "DOID:12935", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12935", "name": "Dilated cardiomyopathy secondary to alcohol", "description": "" } ], "evidence": [ { "id": "12935", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12935" } ] }, { "disease_id": "DOID:1826", "recommended_name": { "id": "DOID:1826", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions." }, "synonyms": [ { "id": "DOID:1826", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1826", "name": "epilepsy syndrome", "description": "" }, { "id": "DOID:1826", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1826", "name": "epileptic syndrome", "description": "" } ], "evidence": [ { "id": "1826", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ] }, { "disease_id": "DOID:699", "recommended_name": { "id": "DOID:699", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:699", "name": "mitochondrial myopathy", "description": "A myopathy that is characterized by mitochondrial dysfunction." }, "synonyms": [ { "id": "DOID:699", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:699", "name": "mitochondrial cytopathy", 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"KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "YDGIVEC", "url": "https://omabrowser.org/oma/group/YDGIVEC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1330359at2759", "url": "http://www.orthodb.org/?query=1330359at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR45635", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45635", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45635:SF14", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45635:SF14", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00153", "url": "http://pfam.xfam.org/family/PF00153", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q26365", "url": "http://purl.obolibrary.org/obo/PR_Q26365", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-DME-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-1268020", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-83936", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-83936", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001285090", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001285090", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "34999", "url": "https://www.rhea-db.org/rhea/34999", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "Q26365", "url": "https://www.uniprot.org/uniprot/Q26365", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q26365-1", "url": "https://www.uniprot.org/uniprot/Q26365-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q26365-2", "url": "https://www.uniprot.org/uniprot/Q26365-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X2JB48", "url": "https://www.uniprot.org/uniprot/X2JB48", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "X2JB48-1", "url": "https://www.uniprot.org/uniprot/X2JB48-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGNISASITSQSKMGKDFDAVGFVKDFAAGGISAAVSKTAVAPIERVKLLLQVQHISKQISPDKQYKGMVDCFIRIPKEQGFSSFWRGNLANVIRYFPTQALNFAFKDKYKQVFLGGVDKNTQFWRYFAGNLASGGAAGATSLCFVYPLDFARTRLAADTGKGGQREFTGLGNCLTKIFKSDGIVGLYRGFGVSVQGIIIYRAAYFGFYDTARGMLPDPKNTPIYISWAIAQVVTTVAGIVSYPFDTVRRRMMMQSGRKATEVIYKNTLHCWATIAKQEGTGAFFKGAFSNILRGTGGAFVLVLYDEIKKVL", "length": 312, "header": "sp|Q26365-1|ADT_DROME Isoform 1 of ADP,ATP carrier protein OS=Drosophila melanogaster OX=7227 GN=sesB PE=2 SV=4 CANONICAL=Q26365-1" }, "isoforms": [ { "isoform_ac": "Q26365-1", "url": "", "sequence": { "sequence": "MGNISASITSQSKMGKDFDAVGFVKDFAAGGISAAVSKTAVAPIERVKLLLQVQHISKQISPDKQYKGMVDCFIRIPKEQGFSSFWRGNLANVIRYFPTQALNFAFKDKYKQVFLGGVDKNTQFWRYFAGNLASGGAAGATSLCFVYPLDFARTRLAADTGKGGQREFTGLGNCLTKIFKSDGIVGLYRGFGVSVQGIIIYRAAYFGFYDTARGMLPDPKNTPIYISWAIAQVVTTVAGIVSYPFDTVRRRMMMQSGRKATEVIYKNTLHCWATIAKQEGTGAFFKGAFSNILRGTGGAFVLVLYDEIKKVL", "length": 312, "header": "sp|Q26365-1|ADT_DROME Isoform 1 of ADP,ATP carrier protein OS=Drosophila melanogaster OX=7227 GN=sesB PE=2 SV=4 CANONICAL=Q26365-1" }, "locus": { "chromosome": "X", "start_pos": 10782811, "end_pos": 10781624, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0073422", "url": "https://www.ensembl.org/id/FBtr0073422" }, { "database": "Ensembl Peptide", "id": "FBpp0073278", "url": "https://www.ensembl.org/id/FBpp0073278" } ] } }, { "isoform_ac": "Q26365-2", "url": "", "sequence": { "sequence": "MGKDFDAVGFVKDFAAGGISAAVSKTAVAPIERVKLLLQVQHISKQISPDKQYKGMVDCFIRIPKEQGFSSFWRGNLANVIRYFPTQALNFAFKDKYKQVFLGGVDKNTQFWRYFAGNLASGGAAGATSLCFVYPLDFARTRLAADTGKGGQREFTGLGNCLTKIFKSDGIVGLYRGFGVSVQGIIIYRAAYFGFYDTARGMLPDPKNTPIYISWAIAQVVTTVAGIVSYPFDTVRRRMMMQSGRKATEVIYKNTLHCWATIAKQEGTGAFFKGAFSNILRGTGGAFVLVLYDEIKKVL", "length": 299, "header": "sp|Q26365-2|ADT_DROME Isoform 2 of ADP,ATP carrier protein OS=Drosophila melanogaster OX=7227 GN=sesB PE=2 SV=4 CANONICAL=Q26365-1" }, "locus": { "chromosome": "X", "start_pos": 10782676, "end_pos": 10781624, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0346384", "url": "https://www.ensembl.org/id/FBtr0346384" }, { "database": "Ensembl Peptide", "id": "FBpp0312078", "url": "https://www.ensembl.org/id/FBpp0312078" } ] } }, { "isoform_ac": "X2JB48-1", "url": "", "sequence": { "sequence": "MGKDFDAVGFVKDFAAGGISAAVSKTAVAPIERVKLLLQVQHISKQISPDKQYKGMVDCFIRIPKEQGFSSFWRGNLANVIRYFPTQALNFAFKDKYKQVFLGGVDKNTQFWRYFAGNLASGGAAGATSLCFVYPLDFARTRLAADTGKGGQREFTGLGNCLTKIFKSDGIVGLYRGFGVSVQGIIIYRAAYFGFYDTARGMLPDPKNTPIYISWAIAQVVTTVAGIVSYPFDTVRRRMMMQSGRKATEVIYKNTLHCWATIAKQEGTGAFFKGAFSNILRGTGGAFVLVLYDEIKKVL", "length": 299, "header": "tr|X2JB48-1|X2JB48_DROME Computationally mapped isoform of ADP/ATP translocase OS=Drosophila melanogaster OX=7227 GN=sesB PE=1 SV=1 CANONICAL=Q26365-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "stress sensitive B encodes an adenine nucleotide translocase in Drosophila melanogaster.", "journal": "Genetics", "date": "1999", "authors": "Zhang Y.Q., Ashburner M., Brogna S., Roote J., Nash D., Barbash D.A., Davis A.W.", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprot/Q26365" } ], "reference": [ { "type": "PubMed", "id": "10511565", "url": "https://glygen.org/publication/PubMed/10511565" } ] }, { "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": "Q26365", "url": "https://www.uniprot.org/uniprot/Q26365" }, { "database": "UniProtKB", "id": "X2JB48", "url": "https://www.uniprot.org/uniprot/X2JB48" } ], "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": "X2JB48", "url": "https://www.uniprot.org/uniprot/X2JB48" } ], "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": "Q26365", "url": "https://www.uniprot.org/uniprot/Q26365" } ], "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": "Q26365", "url": "https://www.uniprot.org/uniprot/Q26365" }, { "database": "UniProtKB", "id": "X2JB48", "url": "https://www.uniprot.org/uniprot/X2JB48" } ], "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": "X2JB48", "url": "https://www.uniprot.org/uniprot/X2JB48" } ], "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": "X2JB48", "url": "https://www.uniprot.org/uniprot/X2JB48" } ], "reference": [ { "type": "PubMed", "id": "12537574", "url": "https://glygen.org/publication/PubMed/12537574" } ] }, { "title": "A cDNA clone encoding the ADP/ATP translocase of Drosophila melanogaster shows a high degree of similarity with the mammalian ADP/ATP translocases.", "journal": "J. Mol. Evol.", "date": "1992", "authors": "Louvi A., Tsitilou S.G.", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprot/Q26365" } ], "reference": [ { "type": "PubMed", "id": "1387687", "url": "https://glygen.org/publication/PubMed/1387687" } ] }, { "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": "X2JB48", "url": "https://www.uniprot.org/uniprot/X2JB48" } ], "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": "X2JB48", "url": "https://www.uniprot.org/uniprot/X2JB48" } ], "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": "X2JB48", "url": "https://www.uniprot.org/uniprot/X2JB48" } ], "reference": [ { "type": "PubMed", "id": "17569867", "url": "https://glygen.org/publication/PubMed/17569867" } ] }, { "title": "Molecular analysis of a candidate gene for the reproductive isolation between sibling species of Drosophila.", "journal": "Experientia", "date": "1994", "authors": "Karch F., Hutter P.", "evidence": [ { "database": "UniProtKB", "id": "Q26365", "url": "https://www.uniprot.org/uniprot/Q26365" } ], "reference": [ { "type": "PubMed", "id": "7520869", "url": "https://glygen.org/publication/PubMed/7520869" } ] } ], "pathway": [ { "id": "dme:Dmel_CG16944", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG16944", "resource": "KEGG Pathway" }, { "id": "R-DME-1268020", "name": "Mitochondrial protein import", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-1268020", 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