{ "uniprot_canonical_ac": "A0A0B4KFE4-1", "uniprot_ac": "A0A0B4KFE4", "uniprot_id": "A0A0B4KFE4_DROME", "mass": { "chemical_mass": 81815.0, "monoisotopic_mass": 81815.0 }, "refseq": { "ac": "NP_001260810", "name": "Acyl-CoA synthetase long-chain, isoform J", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260810" }, "gene_names": [ { "name": "Acsl", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "7447; ACS; acsl; ACSL1; ACSL3; ACSL3/4; anon-WO0172774.173; CG8732; dAcsl; dFAC; Dmel\\CG8732; FACS; FCS; l(2)05847; l(2)44DEa; l(2)7447; l(2)k05304; l(2)SH0465; l(2)SH2 0465", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260810", "id": "NP_001260810" }, { "name": "7447", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "ACSL1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "ACSL3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "Acsl", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260810", "id": "NP_001260810" }, { "name": "CG8732", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "Dmel\\CG8732", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "Dmel_CG8732", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "FACS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "FCS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "anon-WO0172774.173", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "dAcsl", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "dFAC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "l(2)05847", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "l(2)44DEa", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "l(2)7447", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "l(2)SH0465", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "l(2)SH2 0465", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" }, { "name": "l(2)k05304", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "id": "A0A0B4KFE4" } ], "protein_names": [ { "name": "long-chain-fatty-acid--CoA ligase", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KFE4/entry#names_and_taxonomy", "id": "A0A0B4KFE4" }, { "name": "6.2.1.3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KFE4/entry#names_and_taxonomy", "id": "A0A0B4KFE4" }, { "name": "Acyl-CoA synthetase long-chain, isoform J", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260810", "id": "NP_001260810" }, { "name": "CG8732-PJ; Acsl-PJ; lethal (2) SH0465; fatty acyl coenzyme A (CoA) synthetase; Long-chain acyl-CoA synthetase; Acyl-CoAsynthetase long-chain; fatty acyl CoA synthetase; lethal (2) 44DEa; fatty acyl-CoA synthetase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260810", "id": "NP_001260810" } ], "function": [], "disease": [ { "disease_id": "DOID:0050776", "recommended_name": { "id": "DOID:0050776", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050776", "name": "non-syndromic X-linked intellectual disability", "description": "A non-syndromic intellectual disability characterized by a X-linked inheritance pattern." }, "synonyms": [ { "id": "DOID:0050776", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050776", "name": "non-specific X-linked mental retardation", "description": "" }, { "id": "MONDO:0010413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010413", "name": "intellectual disability, X-linked 95", "description": "" }, { "id": "MONDO:0010413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010413", "name": "MRX95", "description": "" }, { "id": "MONDO:0010413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010413", "name": "intellectual disability, X-linked 95", "description": "" }, { "id": "MONDO:0010413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010413", "name": "mental retardation, X-linked 95, X-linked dominant", "description": "" }, { "id": "MONDO:0010413", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010413", "name": "mental retardation, X-linked 95", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "intellectual disability, X-linked 1", "description": "An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities." }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "IQSEC2-related disorder", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "IQSEC2-related syndromic intellectual disability", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "MRX", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "MRX1", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "MRX78", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "intellectual developmental disorder, X-linked 1, X-linked dominant", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "intellectual disability, X-linked 1", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "mental retardation, X-linked 1", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "mental retardation, X-linked 18", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "mental retardation, X-linked 78", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "mental retardation, X-linked type 1", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "IQSEC2", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "IQSEC2-related epilepsy", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "IQSEC2-related intellectual disability", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "X-linked intellectual disability 1", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "X-linked intellectual disability 1/78", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "X-linked intellectual disability 78", "description": "" }, { "id": "MONDO:0010656", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010656", "name": "severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome", "description": "" }, { "id": "MIM:309530", "resource": "MIM", "url": "https://www.omim.org/entry/309530", "name": "Intellectual developmental disorder, X-linked 1", "description": "Intellectual developmental disorder, X-linked 1" } ], "evidence": [ { "id": "0050776", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050776" } ] }, { "disease_id": "DOID:0112050", "recommended_name": { "id": "DOID:0112050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112050", "name": "non-syndromic X-linked intellectual disability 63", "description": "A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23." }, "synonyms": [ { "id": "DOID:0112050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112050", "name": "ACSL4-related intellectual disability", "description": "" }, { "id": "DOID:0112050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112050", "name": "MRX63", "description": "" }, { "id": "DOID:0112050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112050", "name": "MRX68", "description": "" }, { "id": "DOID:0112050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112050", "name": "X-linked mental retardation 63", "description": "" }, { "id": "DOID:0112050", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112050", "name": "X-linked mental retardation 68", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "intellectual disability, X-linked 63", "description": "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene." }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "ACSL4 non-syndromic X-linked intellectual disability", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "intellectual developmental disorder, X-linked 63, X-linked dominant", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "intellectual disability, X-linked 63", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "intellectual disability, X-linked type 63", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "mental retardation, X-linked type 63", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "non-syndromic X-linked intellectual disability caused by mutation in ACSL4", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "ACSL4-related intellectual disability", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "MRX63", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "intellectual disability, X-linked 68", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "mental retardation, X-linked 63", "description": "" }, { "id": "MONDO:0010313", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010313", "name": "mental retardation, X-linked 68", "description": "" }, { "id": "MIM:300387", "resource": "MIM", "url": "https://www.omim.org/entry/300387", "name": "Intellectual developmental disorder, X-linked 63", "description": "Intellectual developmental disorder, X-linked 63" } ], "evidence": [ { "id": "0112050", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0112050" } ] }, { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ], "evidence": [ { "id": "10283", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] }, { "disease_id": "DOID:1059", "recommended_name": { "id": "DOID:1059", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1059", "name": "intellectual disability", "description": "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills." }, "synonyms": [], "evidence": [ { "id": "1059", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1059" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "evidence": [ { "id": "1324", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:14501", "recommended_name": { "id": "DOID:14501", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14501", "name": "Sjogren-Larsson syndrome", "description": "A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11." }, "synonyms": [ { "id": "DOID:14501", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14501", "name": "FALDH deficiency", "description": "" }, { "id": "DOID:14501", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14501", "name": "SLS", "description": "" }, { "id": "DOID:14501", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14501", "name": "Sjogren Larsson syndrome", "description": "" }, { "id": "DOID:14501", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14501", "name": "Sjogren-Larsson's syndrome", "description": "" }, { "id": "DOID:14501", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14501", "name": "fatty acid alcohol oxidoreductase deficiency", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "Sjogren-Larsson syndrome", "description": "A neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity." }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "SLS", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "Senior-Lken Syndrome", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "Sjogren Larsson syndrome", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "Sjogren-Larsson syndrome", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "Sjogren-Larsson's syndrome", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "fatty acid alcohol oxidoreductase deficiency", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "FADH deficiency", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "FALDH deficiency", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "FAO deficiency", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "Sjgren-Larsson syndrome", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "fatty alcohol:NAD+ oxidoreductase deficiency", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "fatty aldehyde dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0010031", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010031", "name": "ichthyosis, spastic neurologic disorder, and oligophrenia", "description": "" }, { "id": "MIM:270200", "resource": "MIM", "url": "https://www.omim.org/entry/270200", "name": "Sjoegren-Larsson syndrome", "description": "Sjoegren-Larsson syndrome" } ], "evidence": [ { "id": "14501", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:14501" } ] }, { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ], "evidence": [ { "id": "1612", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1612" } ] }, { "disease_id": "DOID:2841", "recommended_name": { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "asthma", "description": "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing." }, "synonyms": [ { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "bronchial hyperreactivity", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with acute exacerbation", "description": "" }, { "id": "DOID:2841", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2841", "name": "chronic obstructive asthma with status asthmaticus", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "inherited susceptibility to asthma", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, nocturnal, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, bronchial", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, diminished response to Antileukotriene treatment 1N", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, protection against", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma, susceptibility to", "description": "" }, { "id": "MONDO:0010940", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010940", "name": "asthma-related traits, susceptibility to", "description": "" }, { "id": "MIM:600807", "resource": "MIM", "url": "https://www.omim.org/entry/600807", "name": "Asthma", "description": "Asthma" } ], "evidence": [ { "id": "2841", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2841" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "gene": [ { "name": "Acsl", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "locus": { "chromosome": "2R", "start_pos": 8683022, "end_pos": 8665813, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0263120", "url": "https://www.ensemblgenomes.org/id/FBgn0263120" } ] } } ], "crossref": [ { "id": "A0A0B4KFE4", "url": "https://alphafold.ebi.ac.uk/entry/A0A0B4KFE4", "database": "AlphaFoldDB", "categories": [] }, { "id": "FBgn0263120", "url": "https://bgee.org/?page=gene&gene_id=FBgn0263120", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd17639", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd17639", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBgn0263120", "url": "https://flybase.org/reports/FBgn0263120", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "46068", "url": "https://www.ncbi.nlm.nih.gov/gene/46068", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR000873", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000873", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR020845", "url": "https://www.ebi.ac.uk/interpro/entry/IPR020845", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042099", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042099", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045851", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045851", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG8732", "url": "https://www.genome.jp/dbget-bin/www_bget?dme:Dmel_CG8732", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "CPMINGY", "url": "https://omabrowser.org/oma/group/CPMINGY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "A0A0B4KFE4", "url": "https://www.orthodb.org/?gene=A0A0B4KFE4", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A1Z7H2", "url": "https://www.orthodb.org/?gene=A1Z7H2", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A1Z7H3", "url": "https://www.orthodb.org/?gene=A1Z7H3", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "Q8T3L1", "url": "https://www.orthodb.org/?gene=Q8T3L1", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR43272", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43272", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR43272:SF83", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR43272:SF83", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00501", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00501", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "R-DME-434313", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-434313", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-DME-75876", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-75876", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001260810", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001260810", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "15421", "url": "https://www.rhea-db.org/rhea/15421", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0B4KFE4-1", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1Z7H2", "url": "https://www.uniprot.org/uniprot/A1Z7H2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1Z7H2-1", "url": "https://www.uniprot.org/uniprot/A1Z7H2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1Z7H3", "url": "https://www.uniprot.org/uniprot/A1Z7H3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A1Z7H3-1", "url": "https://www.uniprot.org/uniprot/A1Z7H3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8T3L1", "url": "https://www.uniprot.org/uniprot/Q8T3L1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8T3L1-1", "url": "https://www.uniprot.org/uniprot/Q8T3L1-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDSFWVQSAIGAIKAIAFVYDIITLPVYLVLQKPWKRRQDSRRVKAKPINQKMLVDESKYAPDDIEAKIVRNDDNELTYRTTDPPRDVHVKMLQENIDTLEKVFNYVAKTYTSKRCLGTRQILSEEDEVQQNGRVFKKYNLGDYKWKTFTEAERTAANFGRGLRELGQKPRENIVIFAETRAEWMIAAHGCFKQAMPIVTVYATLGDDGVAHCITETEVTTVITSHDLLPKFKTLLDKCPLVKTIIYIEDQLQKTETTGFKEGVKILPFNQVVKTGQDSKFEHVPPKGDDIAIIMYTSGSTGTPKGVLLSHKNCIATMKGFVDMVPIYPDDVLIGFLPLAHVFELVAESVCLMTGVPIGYSTPLTLIDTSSKIKRGCKGDATVLKPTCMTSVPLILDRISKGINDKVNSGSAFKKSLFKFLYQYKVKWVQRGYKTPLIDKLVFKKVAKLMGGKVRIIMSGGAPLSADTHEQIKTCLCLELIQGYGLTETTSGATVMDYRDMTYGRTGGPLTVCDIRLVNWEEGNYRVTNKPYPQGEVLIGGECVSQGYYKLPGKTNEDFFEEDGQRWFKTGDIGEIQADGVLKIIDRKKDLVKLQAGEYVSLGKVESELKTCGIIENICVYGDPTKQYTVALVVPNQNHLEELAQKHGLGDKSFEELCSSPIIEKAILKEIAEHARKCKLQKYEVPAAITLCKEVWSPDMGLVTAAFKLKRKDIQDRYQHDINRMYAS", "length": 728, "header": "tr|A0A0B4KFE4-1|A0A0B4KFE4_DROME Isoform 1 of long-chain-fatty-acid--CoA ligase OS=Drosophila melanogaster OX=7227 GN=Acsl PE=1 SV=1 CANONICAL=A0A0B4KFE4-1" }, "isoforms": [ { "isoform_ac": "A0A0B4KFE4-1", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KFE4/entry#A0A0B4KFE4-1", "sequence": { "sequence": "MDSFWVQSAIGAIKAIAFVYDIITLPVYLVLQKPWKRRQDSRRVKAKPINQKMLVDESKYAPDDIEAKIVRNDDNELTYRTTDPPRDVHVKMLQENIDTLEKVFNYVAKTYTSKRCLGTRQILSEEDEVQQNGRVFKKYNLGDYKWKTFTEAERTAANFGRGLRELGQKPRENIVIFAETRAEWMIAAHGCFKQAMPIVTVYATLGDDGVAHCITETEVTTVITSHDLLPKFKTLLDKCPLVKTIIYIEDQLQKTETTGFKEGVKILPFNQVVKTGQDSKFEHVPPKGDDIAIIMYTSGSTGTPKGVLLSHKNCIATMKGFVDMVPIYPDDVLIGFLPLAHVFELVAESVCLMTGVPIGYSTPLTLIDTSSKIKRGCKGDATVLKPTCMTSVPLILDRISKGINDKVNSGSAFKKSLFKFLYQYKVKWVQRGYKTPLIDKLVFKKVAKLMGGKVRIIMSGGAPLSADTHEQIKTCLCLELIQGYGLTETTSGATVMDYRDMTYGRTGGPLTVCDIRLVNWEEGNYRVTNKPYPQGEVLIGGECVSQGYYKLPGKTNEDFFEEDGQRWFKTGDIGEIQADGVLKIIDRKKDLVKLQAGEYVSLGKVESELKTCGIIENICVYGDPTKQYTVALVVPNQNHLEELAQKHGLGDKSFEELCSSPIIEKAILKEIAEHARKCKLQKYEVPAAITLCKEVWSPDMGLVTAAFKLKRKDIQDRYQHDINRMYAS", "length": 728, "header": "tr|A0A0B4KFE4-1|A0A0B4KFE4_DROME Isoform 1 of long-chain-fatty-acid--CoA ligase OS=Drosophila melanogaster OX=7227 GN=Acsl PE=1 SV=1 CANONICAL=A0A0B4KFE4-1" }, "locus": { "chromosome": "2R", "start_pos": 8681602, "end_pos": 8676473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0333001", "url": "https://www.ensemblgenomes.org/id/FBtr0333001" }, { "database": "Ensembl Peptide", "id": "FBpp0305216", "url": "https://www.ensemblgenomes.org/id/FBpp0305216" } ] } }, { "isoform_ac": "A1Z7H2-1", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KFE4/entry#A1Z7H2-1", "sequence": { "sequence": "MKYNSLSYCVMDSFWVQSAIGAIKAIAFVYDIITLPVYLVLQKPWKRRQDSRRVKAKIVRNDDNELTYRTTDPPRDVHVKMLQENIDTLEKVFNYVAKTYTSKRCLGTRQILSEEDEVQQNGRVFKKYNLGDYKWKTFTEAERTAANFGRGLRELGQKPRENIVIFAETRAEWMIAAHGCFKQAMPIVTVYATLGDDGVAHCITETEVTTVITSHDLLPKFKTLLDKCPLVKTIIYIEDQLQKTETTGFKEGVKILPFNQVVKTGQDSKFEHVPPKGDDIAIIMYTSGSTGTPKGVLLSHKNCIATMKGFVDMVPIYPDDVLIGFLPLAHVFELVAESVCLMTGVPIGYSTPLTLIDTSSKIKRGCKGDATVLKPTCMTSVPLILDRISKGINDKVNSGSAFKKSLFKFLYQYKVKWVQRGYKTPLIDKLVFKKVAKLMGGKVRIIMSGGAPLSADTHEQIKTCLCLELIQGYGLTETTSGATVMDYRDMTYGRTGGPLTVCDIRLVNWEEGNYRVTNKPYPQGEVLIGGECVSQGYYKLPGKTNEDFFEEDGQRWFKTGDIGEIQADGVLKIIDRKKDLVKLQAGEYVSLGKVESELKTCGIIENICVYGDPTKQYTVALVVPNQNHLEELAQKHGLGDKSFEELCSSPIIEKAILKEIAEHARKCKLQKYEVPAAITLCKEVWSPDMGLVTAAFKLKRKDIQDRYQHDINRMYAS", "length": 717, "header": "tr|A1Z7H2-1|A1Z7H2_DROME Computationally mapped isoform of long-chain-fatty-acid--CoA ligase OS=Drosophila melanogaster OX=7227 GN=Acsl PE=1 SV=1 CANONICAL=A0A0B4KFE4-1" }, "locus": { "chromosome": "2R", "start_pos": 8681602, "end_pos": 8666283, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0100426", "url": "https://www.ensemblgenomes.org/id/FBtr0100426" }, { "database": "Ensembl Peptide", "id": "FBpp0099845", "url": "https://www.ensemblgenomes.org/id/FBpp0099845" } ] } }, { "isoform_ac": "A1Z7H3-1", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KFE4/entry#A1Z7H3-1", "sequence": { "sequence": "MDSFWVQSAIGAIKAIAFVYDIITLPVYLVLQKPWKRRQDSRRVKAKIVRNDDNELTYRTTDPPRDVHVKMLQENIDTLEKVFNYVAKTYTSKRCLGTRQILSEEDEVQQNGRVFKKYNLGDYKWKTFTEAERTAANFGRGLRELGQKPRENIVIFAETRAEWMIAAHGCFKQAMPIVTVYATLGDDGVAHCITETEVTTVITSHDLLPKFKTLLDKCPLVKTIIYIEDQLQKTETTGFKEGVKILPFNQVVKTGQDSKFEHVPPKGDDIAIIMYTSGSTGTPKGVLLSHKNCIATMKGFVDMVPIYPDDVLIGFLPLAHVFELVAESVCLMTGVPIGYSTPLTLIDTSSKIKRGCKGDATVLKPTCMTSVPLILDRISKGINDKVNSGSAFKKSLFKFLYQYKVKWVQRGYKTPLIDKLVFKKVAKLMGGKVRIIMSGGAPLSADTHEQIKTCLCLELIQGYGLTETTSGATVMDYRDMTYGRTGGPLTVCDIRLVNWEEGNYRVTNKPYPQGEVLIGGECVSQGYYKLPGKTNEDFFEEDGQRWFKTGDIGEIQADGVLKIIDRKKDLVKLQAGEYVSLGKVESELKTCGIIENICVYGDPTKQYTVALVVPNQNHLEELAQKHGLGDKSFEELCSSPIIEKAILKEIAEHARKCKLQKYEVPAAITLCKEVWSPDMGLVTAAFKLKRKDIQDRYQHDINRMYAS", "length": 707, "header": "tr|A1Z7H3-1|A1Z7H3_DROME Computationally mapped isoform of long-chain-fatty-acid--CoA ligase OS=Drosophila melanogaster OX=7227 GN=Acsl PE=1 SV=1 CANONICAL=A0A0B4KFE4-1" }, "locus": { "chromosome": "2R", "start_pos": 8681602, "end_pos": 8676473, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0088701", "url": "https://www.ensemblgenomes.org/id/FBtr0088701" }, { "database": "Ensembl Peptide", "id": "FBpp0087781", "url": "https://www.ensemblgenomes.org/id/FBpp0087781" } ] } }, { "isoform_ac": "Q8T3L1-1", "url": "https://www.uniprot.org/uniprotkb/A0A0B4KFE4/entry#Q8T3L1-1", "sequence": { "sequence": "MFIEDDAQMDSFWVQSAIGAIKAIAFVYDIITLPVYLVLQKPWKRRQDSRRVKAKIVRNDDNELTYRTTDPPRDVHVKMLQENIDTLEKVFNYVAKTYTSKRCLGTRQILSEEDEVQQNGRVFKKYNLGDYKWKTFTEAERTAANFGRGLRELGQKPRENIVIFAETRAEWMIAAHGCFKQAMPIVTVYATLGDDGVAHCITETEVTTVITSHDLLPKFKTLLDKCPLVKTIIYIEDQLQKTETTGFKEGVKILPFNQVVKTGQDSKFEHVPPKGDDIAIIMYTSGSTGTPKGVLLSHKNCIATMKGFVDMVPIYPDDVLIGFLPLAHVFELVAESVCLMTGVPIGYSTPLTLIDTSSKIKRGCKGDATVLKPTCMTSVPLILDRISKGINDKVNSGSAFKKSLFKFLYQYKVKWVQRGYKTPLIDKLVFKKVAKLMGGKVRIIMSGGAPLSADTHEQIKTCLCLELIQGYGLTETTSGATVMDYRDMTYGRTGGPLTVCDIRLVNWEEGNYRVTNKPYPQGEVLIGGECVSQGYYKLPGKTNEDFFEEDGQRWFKTGDIGEIQADGVLKIIDRKKDLVKLQAGEYVSLGKVESELKTCGIIENICVYGDPTKQYTVALVVPNQNHLEELAQKHGLGDKSFEELCSSPIIEKAILKEIAEHARKCKLQKYEVPAAITLCKEVWSPDMGLVTAAFKLKRKDIQDRYQHDINRMYAS", "length": 715, "header": "tr|Q8T3L1-1|A0A0B4KFE4_DROME Computationally mapped isoform of long-chain-fatty-acid--CoA ligase OS=Drosophila melanogaster OX=7227 GN=Acsl PE=1 SV=1 CANONICAL=A0A0B4KFE4-1" }, "locus": { "chromosome": "2R", "start_pos": 8681602, "end_pos": 8674849, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0088699", "url": "https://www.ensemblgenomes.org/id/FBtr0088699" }, { "database": "Ensembl Peptide", "id": "FBpp0087779", "url": "https://www.ensemblgenomes.org/id/FBpp0087779" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "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": "Q8T3L1", "url": "https://www.uniprot.org/uniprot/Q8T3L1" } ], "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": "Q8T3L1", "url": "https://www.uniprot.org/uniprot/Q8T3L1" } ], "reference": [ { "type": "PubMed", "id": "12537568", "url": "https://glygen.org/publication/PubMed/12537568" } ] }, { "title": "Annotation of the Drosophila melanogaster euchromatic genome: a systematic review.", "journal": "Genome Biol.", "date": "2002", "authors": "Misra S, Crosby MA, Mungall CJ, Matthews BB, Campbell KS, Hradecky P, Huang Y, Kaminker JS, Millburn GH, Prochnik SE, Smith CD, Tupy JL, Whitfied EJ, Bayraktaroglu L, Berman BP, Bettencourt BR, Celniker SE, de Grey AD, Drysdale RA, Harris NL, Richter J, Russo S, Schroeder AJ, Shu SQ, Stapleton M, Yamada C, Ashburner M, Gelbart WM, Rubin GM, Lewis SE", "evidence": [ { "database": "UniProtKB", "id": "Q8T3L1", "url": "https://www.uniprot.org/uniprot/Q8T3L1" } ], "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": "Q8T3L1", "url": "https://www.uniprot.org/uniprot/Q8T3L1" } ], "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": "Q8T3L1", "url": "https://www.uniprot.org/uniprot/Q8T3L1" } ], "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": "Q8T3L1", "url": "https://www.uniprot.org/uniprot/Q8T3L1" } ], "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": "Q8T3L1", "url": "https://www.uniprot.org/uniprot/Q8T3L1" } ], "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": "Q8T3L1", "url": "https://www.uniprot.org/uniprot/Q8T3L1" } ], "reference": [ { "type": "PubMed", "id": "17569867", "url": "https://glygen.org/publication/PubMed/17569867" } ] }, { "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": "Q8T3L1", "url": "https://www.uniprot.org/uniprot/Q8T3L1" } ], "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": "Q8T3L1", "url": "https://www.uniprot.org/uniprot/Q8T3L1" } ], "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": "Q8T3L1", "url": "https://www.uniprot.org/uniprot/Q8T3L1" } ], "reference": [ { "type": "PubMed", "id": "26109357", "url": "https://glygen.org/publication/PubMed/26109357" } ] } ], "pathway": [ { "id": "dme:Dmel_CG8732", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?dme:Dmel_CG8732", "resource": "KEGG Pathway" }, { "id": "R-DME-434313", "name": "Intracellular metabolism of fatty acids regulates insulin secretion", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-434313", "resource": "Reactome", "description": "Intracellular metabolism of fatty acids regulates insulin secretion" }, { "id": "R-DME-75876", "name": "Synthesis of very long-chain fatty acyl-CoAs", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-75876", "resource": "Reactome", "description": "Synthesis of very long-chain fatty acyl-CoAs" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A4X1UAY0-1", "protein_name": "long-chain-fatty-acid--CoA ligase", "gene_name": "ACSL3", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MNNHVSSKPSTMKLKHTINPILLYFIHFIISLYTILTYIPYYFLSESRQEKSNRIKAKPVNSKPESAYRSVNSLDGLASVLYPGCDTLDKVFMHAKNKFKDKSLLGTREVLNEEDEVQPNGKIFKKVILGNYNWLSYEEVFVRASNFGNGLQMLGQKPKTNIAIFCETRAEWMIAAQACFMYNFQLVTLYATLGGPAIVHGLNETEVTNIITSKELLQTKLKDIVSLVPRLRHIITVDGKPPAWSEFPKGVIVHTMAAVQALGAKASVENKPQSKPMPLDIAVIMYTSGSTGLPKGVMISHSNIIAGITGMAERIPELGEKDVYIGYLPLAHVLELSAELVCLSHGCRIGYSSPQTLADQSSKIKKGSKGDASMLKPTLMAAVPEIMDRIYKNVMNKVNEMSSFQRNLFILAYNYKMEQISKGCSTPLCDRFIFRKVRSLLGGNTRLLLCGGAPLSAATQRFMNICFCCPVGQGYGLTESSGAGTITEVWDYNTGRVGAPLVCCEIKLKNWEEGGYFNTDKPHPRGEILIGGQNVTMGYYKNEAKTKADFFEDENGQRWLCTGDIGEFDPDGCLKIIDRKKDLVKLQAGEYVSLGKVEAALKNLPLIDNICAYANSYHSYVIGFVVPNQKELTELARKKGLTGTWEELCNSREMENEVLKVLSEAAISASLEKFEIPVKIRLSPEPWTPETGLVTDAFKLKRKELKTHYQADIERIKKMKFGWCCMKQK", "length": 729 }, "evidence": [ { "id": "A0A0B4KFE4", "url": "https://omabrowser.org/oma/group/A0A0B4KFE4/", "database": "OMA" } ], "glygen_name": "Pig", "common_name": "Pig" }, { "uniprot_canonical_ac": "A0A8V1A6E8-1", "protein_name": "long-chain-fatty-acid--CoA ligase", "gene_name": "ACSL3", "tax_id": 9031, "organism": "Gallus gallus", "sequence": { "sequence": "MVSNSPLELSQGAKMKLKHNINPVLLQFINFIILVYTVVTYIPWYIFSGSRQAIAKSKQVKARPVNNRPGGAYRSVNSLHCLASVLYPGCDTLDKVFKYAKTKYKDKKLLGTREILKEEDEIQPSGKVFKKVILGKYTWLSYEDVYIKAVNFGNGLAVLGQQPKTNIAIFCETRAEWMIAAQACFMCNYQLVTLYATLGGAAIVHGLNETEVTTIITSKELMQTKLKEIVSQIPRLRHIITVDGKPTTWSEFPKGVIVHTMASVQAMGAKADSGNKQQARPVPSDIAVIMYTSGSTGIPKGVMISHCNIIAGITGMAERIPNLGEKDIYIGYLPLAHVLELSAELVCLSHGCRIGYSSPQTLADQSSKIKKGSKGDVTTLKPTLMAAVPEIMDRIYKNVMNKVNEMTSFQRNLFILAYNYKMEQISKGYTTPLCDSLIFRKVRMLLGGKIRILLCGGAPLSAATQRFMNICFCCPVGQGYGLTESAGAGTITEVWDYTTGRVGAPLVCCEIKLLNWEEGGYYNTDKPYPRGEILIGGQNVTVGYYKNEGRTRKDFTIDENGQRWLHTGDIGEFHQDGCLKIIDRKKDLVKLQAGEYVSLGKVEAALKNLPLVDNICAYASSFHSYVIGFVVPNQKELAELARKKGFKGTWEEICNSSEMEKEVLKVLAEAAMAANLEKFEIPVKIRLSPDPWTPETGLVTDAFKLKRKELTAYYQKDIDRMYGTNVK", "length": 727 }, "evidence": [ { "id": "A0A0B4KFE4", "url": "https://omabrowser.org/oma/group/A0A0B4KFE4/", "database": "OMA" } ], "glygen_name": "Chicken", "common_name": "Chicken" }, { "uniprot_canonical_ac": "F1MEX9-1", "protein_name": "long-chain-fatty-acid--CoA ligase", "gene_name": "ACSL3", "tax_id": 9913, "organism": "Bos taurus", "sequence": { "sequence": "MNNHGSSKPSSMKLKHTINPILLYFIQFIISLYTILTYIPYYFLSESRQEKSNRTKAKPVNSKPDSAYRSVNSLDGLASVLYPGCDTLDKVFMHAKNKFKDKRLLGTREILNEEDEVQPNGKVFKKVILGSYNWLSYEDVFVRAFNFGNGLQMLGQKPKTNIAIFCETRAEWMVAAQACFMYNFQLVTLYATLGGPAIVHGLNETEVTNIITSKELLQTKLKDIVSLVPRLRHIITVDGKPPTWSEFPKGVIVHTMAAVRALGAKASMENKPLSKPAPSDIAVIMYTSGSTGIPKGVMISHSNIIAGITGMAERIPELGEKDVYIGYLPLAHVLELSAELVCLSHGCRIGYSSPQTLADQSSKIKKGSKGDTSMLKPTLMAAVPEIMDRIYKNVMNKVNEMSSFQRNLFILAYNYKMEQISKGHSTPLCDSFIFRKVRGLLGGNIRLLLCGGAPLSATTQRFMNICFCCPVGQGYGLTESCGAGTITEVWDYNTGRVGAPLVCCEIKLKNWEEGGYFNTDKPHPRGEILIGGQNVTMGYYKNEAKTKADFFEDENGQRWLCTGDIGEFDPDGCLKIIDRKKDLVKLQAGEYVSLGKVEAALKNLPLIDNICAYANSYHSYVIGFVVPNQKELTELARRKGLHGTWEELCNSCEMENEVLKVLSEAAISASLEKFEIPVKIRLSPEPWTPETGLVTDAFKLKRKELKTHYQADIERMYGRK", "length": 720 }, "evidence": [ { "id": "A0A0B4KFE4", "url": "https://omabrowser.org/oma/group/A0A0B4KFE4/", "database": "OMA" } ], "glygen_name": "Bovine", "common_name": "Bovine" }, { "uniprot_canonical_ac": "O95573-1", "protein_name": "Fatty acid CoA ligase Acsl3", "gene_name": "ACSL3", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MNNHVSSKPSTMKLKHTINPILLYFIHFLISLYTILTYIPFYFFSESRQEKSNRIKAKPVNSKPDSAYRSVNSLDGLASVLYPGCDTLDKVFTYAKNKFKNKRLLGTREVLNEEDEVQPNGKIFKKVILGQYNWLSYEDVFVRAFNFGNGLQMLGQKPKTNIAIFCETRAEWMIAAQACFMYNFQLVTLYATLGGPAIVHALNETEVTNIITSKELLQTKLKDIVSLVPRLRHIITVDGKPPTWSEFPKGIIVHTMAAVEALGAKASMENQPHSKPLPSDIAVIMYTSGSTGLPKGVMISHSNIIAGITGMAERIPELGEEDVYIGYLPLAHVLELSAELVCLSHGCRIGYSSPQTLADQSSKIKKGSKGDTSMLKPTLMAAVPEIMDRIYKNVMNKVSEMSSFQRNLFILAYNYKMEQISKGRNTPLCDSFVFRKVRSLLGGNIRLLLCGGAPLSATTQRFMNICFCCPVGQGYGLTESAGAGTISEVWDYNTGRVGAPLVCCEIKLKNWEEGGYFNTDKPHPRGEILIGGQSVTMGYYKNEAKTKADFFEDENGQRWLCTGDIGEFEPDGCLKIIDRKKDLVKLQAGEYVSLGKVEAALKNLPLVDNICAYANSYHSYVIGFVVPNQKELTELARKKGLKGTWEELCNSCEMENEVLKVLSEAAISASLEKFEIPVKIRLSPEPWTPETGLVTDAFKLKRKELKTHYQADIERMYGRK", "length": 720 }, "evidence": [ { "id": "A0A0B4KFE4", "url": "https://omabrowser.org/oma/group/A0A0B4KFE4/", "database": "OMA" } ], "glygen_name": "Human", "common_name": "Human" }, { "uniprot_canonical_ac": "P30624-1", "protein_name": "Long-chain-fatty-acid--CoA ligase 1", "gene_name": "FAA1", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MVAQYTVPVGKAANEHETAPRRNYQCREKPLVRPPNTKCSTVYEFVLECFQKNKNSNAMGWRDVKEIHEESKSVMKKVDGKETSVEKKWMYYELSHYHYNSFDQLTDIMHEIGRGLVKIGLKPNDDDKLHLYAATSHKWMKMFLGAQSQGIPVVTAYDTLGEKGLIHSLVQTGSKAIFTDNSLLPSLIKPVQAAQDVKYIIHFDSISSEDRRQSGKIYQSAHDAINRIKEVRPDIKTFSFDDILKLGKESCNEIDVHPPGKDDLCCIMYTSGSTGEPKGVVLKHSNVVAGVGGASLNVLKFVGNTDRVICFLPLAHIFELVFELLSFYWGACIGYATVKTLTSSSVRNCQGDLQEFKPTIMVGVAAVWETVRKGILNQIDNLPFLTKKIFWTAYNTKLNMQRLHIPGGGALGNLVFKKIRTATGGQLRYLLNGGSPISRDAQEFITNLICPMLIGYGLTETCASTTILDPANFELGVAGDLTGCVTVKLVDVEELGYFAKNNQGEVWITGANVTPEYYKNEEETSQALTSDGWFKTGDIGEWEANGHLKIIDRKKNLVKTMNGEYIALEKLESVYRSNEYVANICVYADQSKTKPVGIIVPNHAPLTKLAKKLGIMEQKDSSINIENYLEDAKLIKAVYSDLLKTGKDQGLVGIELLAGIVFFDGEWTPQNGFVTSAQKLKRKDILNAVKDKVDAVYSSS", "length": 700 }, "evidence": [ { "id": "A0A0B4KFE4", "url": "https://omabrowser.org/oma/group/A0A0B4KFE4/", "database": "OMA" } ], "glygen_name": "Yeast", "common_name": "Baker's yeast" }, { "uniprot_canonical_ac": "Q63151-1", "protein_name": "Fatty acid CoA ligase Acsl3", "gene_name": "Acsl3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MNNHVSSTPSTMKLKQTIHPILLYFIHFIISLYTILTYIPFYFLCESKQEKPNHIKAKPVSSKPDSAYRSVNSMDGLASVLYPGCDTLDKVFMYAKNKFKDKRLLGTREILNEEDEIQPNGKVFKKVILGHYNWLSYEDVFIRALDFGNGLQMLGQKPKANIAIFCETRAEWMIAAQACFMYNFQLVTLYATLGGPAIVHGLNETEVTNIITSKELLQTKLKDIVSLVPRLRHIITVDGKPPTWSEFPKGVIVHTMAAVQALGVKADVDKKAHSKPLPSDIAVIMYTSGSTGIPKGVMISHSNIIASITGMARRIPRLGEEDVYIGYLPLAHVLELSAELVCLSHGCRIGYSSPQTLADQSSKIKKGSKGDTSVLKPTLMAAVPEIMDRIYKNVMNKVNEMSAFQRNLFILAYNYKMEQISKGCSTPLCDRFVFRNVRRLLGGNIRVLLCGGAPLSATTQRFMNICFCCPVGQGYGLTESTGAGTITEVWDYNTGRVGAPLVCCEIKLKNWEEGGYFNTDKPHPRGEILIGGQNVTMGYYKNEAKTKADFFEDENGQRWLCTGDIGEFDPDGCLKIIDRKKDLVKLQAGEYVSLGKVEAALKNLPLIDNICAYANSYHSYVIGFVVPNQKELTELARTKGFNGTWEELCNSSEMENEVLKVLSEAAISASLEKFEIPLKIRLSPDPWTPETGLVTDAFKLKRKELKTHYQADIERMYGRK", "length": 720 }, "evidence": [ { "id": "A0A0B4KFE4", "url": "https://omabrowser.org/oma/group/A0A0B4KFE4/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9CZW4-1", "protein_name": "Fatty acid CoA ligase Acsl3", "gene_name": "Acsl3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNNHVSSTPSTMKLKQTINPILLYFIHFIISLYTILTYIPFYFLCESKQEKPNQIKAKPVSSKPDSAYRSINSVDGLASVLYPGCDTLDKVFMYAKNKFKNKRLLGTREILNEEDEIQPNGKIFKKVILGHYNWLSYEDVFIRALDFGNGLQMLGQKPKANIAIFCETRAEWMIAAQACFMYNFQLVTLYATLGGPAIVHGLNETEVTNIITSKELLQTKLKDIVSLVPRLRHIITVDGKPPTWSEFPKGVIVHTMAAVQALGVKANVEKKAHSKPLPSDIAVIMYTSGSTGIPKGVMISHSNIIASITGMARRIPRLGEEDVYIGYLPLAHVLELSAELVCLSHGCRIGYSSPQTLADQSSKIKKGSKGDTSVLKPTLMAAVPEIMDRIYKNVMNKVNEMSAFQRNLFILAYNYKMEQISKGCSTPLCDRFVFRNVRRLLGGNIRLLLCGGAPLSATTQRFMNICFCCPVGQGYGLTESTGAGTITEVWDYNTGRVGAPLVCCEIKLKNWEEGGYFNTDKPHPRGEILIGGQNVTMGYYKNEAKTKTDFFEDENGQRWLCTGDIGEFDPDGCLKIIDRKKDLVKLQAGEYVSLGKVEAALKNLPLIDNICAYANSYHSYVIGFVVPNQKELTELARTKGFKGTWEELCNSSEMENEVLKVLSEAAISASLEKFEIPLKIRLSPDPWTPETGLVTDAFKLKRKELKTHYQADIERMYGRK", "length": 720 }, "evidence": [ { "id": "A0A0B4KFE4", "url": "https://omabrowser.org/oma/group/A0A0B4KFE4/", "database": "OMA" } ], "glygen_name": "Mouse", "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 11, "go_terms": [ { "name": "long-chain fatty acid metabolic process", "id": "GO:0001676", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001676", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "nervous system development", "id": "GO:0007399", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007399", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "long-chain fatty-acyl-CoA biosynthetic process", "id": "GO:0035338", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035338", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "segmentation", "id": "GO:0035282", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035282", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "long-chain fatty-acyl-CoA metabolic process", "id": "GO:0035336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035336", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "positive regulation of sequestering of triglyceride", "id": "GO:0010890", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010890", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "axon guidance", "id": "GO:0007411", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007411", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "phosphatidylglycerol biosynthetic process", "id": "GO:0006655", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006655", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "chemical synaptic transmission", "id": "GO:0007268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007268", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "lipid droplet", "id": "GO:0005811", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005811", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "axon", "id": "GO:0030424", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030424", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "long-chain fatty acid-CoA ligase activity", "id": "GO:0004467", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004467", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" }, { "name": "palmitoyl-CoA ligase activity", "id": "GO:0090433", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090433", "evidence": [ { "database": "UniProtKB", "id": "A0A0B4KFE4", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "15421", "name": "", "equation": "a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9VVT8-1", "Q9V3U0-1", "Q9V3S9-1", "A0A0B4KFE4-1" ], "evidence": [ { "id": "15421", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/15421" } ] }, { "id": "R-DME-201035", "name": "ACSL1,3,5,6 ligate CoA to PALM to form PALM-CoA", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-200993" ], "enzyme_list": [ "Q9VVT8-1", "A0A0B4KFE4-1" ], "evidence": [ { "id": "R-DME-201035", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-201035" } ] }, { "id": "R-DME-434382", "name": "ACSL3,4 ligates coenzyme A (CoA-SH) to palmitate yielding palmitoyl-coenzyme A in the pancreatic beta cell", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "mitochondrial outer membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A0A0B4KFE4-1" ], "evidence": [ { "id": "R-DME-434382", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-434382" } ] }, { "id": "R-DME-548843", "name": "ACSL3,4 ligate CoA to AA to form AA-CoA", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-29768" ], "output_participant_list": [ "R-ALL-548819" ], "enzyme_list": [ "A0A0B4KFE4-1" ], "evidence": [ { "id": "R-DME-548843", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-DME-548843" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-200993", "participant_name": "PALM-CoA [cytosol]", "crossref": [ { "id": "C00154", "database": "COMPOUND", "url": "" }, { "id": "57379", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-29768", "participant_name": "AA [cytosol]", "crossref": [ { "id": "000004474696", "database": "ZINC", "url": "" }, { "id": "C00219", "database": "COMPOUND", "url": "" }, { "id": "32395", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-548819", "participant_name": "AA-CoA [cytosol]", "crossref": [ { "id": "57368", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A0A0B4KFE4", "gene_name": "Acsl", "activity": [ { "ec_number": "6.2.1.3", "activity": "a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "A0A0B4KFE4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ] }, { "ec_number": "6.2.1.3", "activity": "", "evidence": [ { "id": "A0A0B4KFE4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0B4KFE4" } ] } ] }, { "uniprot_ac": "Q9V3S9", "gene_name": "bgm", "activity": [ { "ec_number": "6.2.1.3", "activity": "a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "Q9V3S9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V3S9" } ] }, { "ec_number": "6.2.1.3", "activity": "", "evidence": [ { "id": "Q9V3S9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V3S9" } ] } ] }, { "uniprot_ac": "Q9V3U0", "gene_name": "hll", "activity": [ { "ec_number": "6.2.1.3", "activity": "a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "Q9V3U0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V3U0" } ] }, { "ec_number": "6.2.1.3", "activity": "", "evidence": [ { "id": "Q9V3U0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V3U0" } ] } ] }, { "uniprot_ac": "Q9VVT8", "gene_name": "ACSL1", "activity": [ { "ec_number": "6.2.1.3", "activity": "a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "Q9VVT8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VVT8" } ] }, { "ec_number": "6.2.1.3", "activity": "", "evidence": [ { "id": "Q9VVT8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VVT8" } ] } ] } ], "biomarkers": [], "structures": [ { "pdb_id": "AF-A0A0B4KFE4-F1", "pdb_chain": "global", "start_pos": 1, "end_pos": 728, "overlap": "1.0", "method": "AlphaFold", "type": "alphafold", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/AF-A0A0B4KFE4-F1.pdb" } ], "synthesized_glycans": [], "enzyme_annotation": [ { "ec_number": "6.2.1.3", "ec_name": "a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "6.2.1.3", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/?query=ec:6.2.1.3" }, { "id": "6.2.1.3", "database": "BRENDA Enzymes", "url": "https://www.brenda-enzymes.org/enzyme.php?ecno=6.2.1.3" } ] } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "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": 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"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": 11 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }