{ "uniprot_canonical_ac": "O60427-1", "uniprot_ac": "O60427", "uniprot_id": "FADS1_HUMAN", "mass": { "chemical_mass": 51964.0, "monoisotopic_mass": 51964.0 }, "refseq": { "ac": "NP_037534", "name": "acyl-CoA (8-3)-desaturase", "summary": "The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037534" }, "gene_names": [ { "name": "FADS1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60427", "id": "O60427" }, { "name": "D5D; FADS6; FADSD5; LLCDL1; TU12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037534", "id": "NP_037534" }, { "name": "FADS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037534", "id": "NP_037534" }, { "name": "FADSD5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60427", "id": "O60427" }, { "name": "hCG_40849", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60427", "id": "O60427" } ], "protein_names": [ { "name": "Acyl-CoA (8-3)-desaturase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60427" }, { "name": "1.14.19.44", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60427" }, { "name": "D5D", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60427" }, { "name": "Delta(5) desaturase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60427" }, { "name": "Delta(5) fatty acid desaturase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60427" }, { "name": "Delta-5 desaturase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60427" }, { "name": "Fatty acid desaturase 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60427" }, { "name": "acyl-CoA (8-3)-desaturase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037534", "id": "NP_037534" }, { "name": "delta-5 fatty acid desaturase; linoleoyl-CoA desaturase (delta-6-desaturase)-like 1; delta(5) desaturase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037534", "id": "NP_037534" } ], "function": [ { "annotation": "Acts as a front-end fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 5 located between a preexisting double bond and the carboxyl end of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Specifically, desaturates dihomo-gamma-linoleoate (DGLA) (20:3n-6) and eicosatetraenoate (ETA) (20:4n-3) to generate arachidonate (AA) (20:4n-6) and eicosapentaenoate (EPA) (20:5n-3), respectively (PubMed:10601301, PubMed:10769175). As a rate limiting enzyme for DGLA (20:3n-6) and AA (20:4n-6)-derived eicosanoid biosynthesis, controls the metabolism of inflammatory lipids like prostaglandin E2, critical for efficient acute inflammatory response and maintenance of epithelium homeostasis. Contributes to membrane phospholipid biosynthesis by providing AA (20:4n-6) as a major acyl chain esterified into phospholipids. In particular, regulates phosphatidylinositol-4,5-bisphosphate levels, modulating inflammatory cytokine production in T-cells (By similarity). Also desaturates (11E)-octadecenoate (trans-vaccenoate)(18:1n-9), a metabolite in the biohydrogenation pathway of LA (18:2n-6) (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427#function" }, { "database": "PubMed", "id": "10769175", "url": "https://glygen.org/publication/PubMed/10769175" }, { "database": "PubMed", "id": "10601301", "url": "https://glygen.org/publication/PubMed/10601301" }, { "database": "UniProtKB", "id": "Q920R3", "url": "https://www.uniprot.org/uniprot/Q920R3#function" }, { "database": "UniProtKB", "id": "Q920L1", "url": "https://www.uniprot.org/uniprot/Q920L1#function" } ] }, { "annotation": "Association of Fatty Acid Desaturase 1 rs174547 Polymorphism with the Composition of Long-Chain Polyunsaturated Fatty Acids in Serum Glycerophospholipids during Pregnancy. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_037534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037534" }, { "database": "PubMed", "id": "36771429", "url": "https://glygen.org/publication/PubMed/36771429" } ] }, { "annotation": "Does not exhibit any catalytic activity toward 20:3n-6, but it may enhance FADS2 activity.", "evidence": [ { "database": "UniProtKB", "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427#function" }, { "database": "UniProtKB", "id": "A4UVI1", "url": "https://www.uniprot.org/uniprot/A4UVI1#function" } ] }, { "annotation": "Effect of FADS1 rs174556 Genotype on Polyunsaturated Fatty Acid Status: A Systematic Review and Meta-Analysis. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_037534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037534" }, { "database": "PubMed", "id": "36806496", "url": "https://glygen.org/publication/PubMed/36806496" } ] }, { "annotation": "FADS1-arachidonic acid axis enhances arachidonic acid metabolism by altering intestinal microecology in colorectal cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_037534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037534" }, { "database": "PubMed", "id": "37041160", "url": "https://glygen.org/publication/PubMed/37041160" } ] }, { "annotation": "Genome-wide analysis identifies genetic effects on reproductive success and ongoing natural selection at the FADS locus.", "evidence": [ { "database": "RefSeq", "id": "NP_037534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037534" }, { "database": "PubMed", "id": "36864135", "url": "https://glygen.org/publication/PubMed/36864135" } ] }, { "annotation": "Substitution analyses of foods with varying fat quality and the associations with all-cause mortality and impact of the FADS-1 genotype in elderly men.", "evidence": [ { "database": "RefSeq", "id": "NP_037534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037534" }, { "database": "PubMed", "id": "37728746", "url": "https://glygen.org/publication/PubMed/37728746" } ] }, { "annotation": "The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_037534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037534" } ] }, { "annotation": "This is the first report on characterization of human FADS, and the first cloning and over-expression of FADS from an organism higher than yeast.", "evidence": [ { "database": "RefSeq", "id": "NP_037534", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_037534" }, { "database": "PubMed", "id": "16643857", "url": "https://glygen.org/publication/PubMed/16643857" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "79.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149485" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "70.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149485" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "80.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149485" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "87.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149485" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "85.68", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149485" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "78.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149485" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "74.69", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149485" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.24", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149485" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "78.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149485" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "73.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149485" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149485" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "87.08", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149485" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "78.08", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149485", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149485" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60427" } ], "disease": [ { "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:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "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": "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" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60427" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O60427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60427" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O60427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60427" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O60427", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60427" } ], "disease": [ { "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": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60427" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"id": "F5GYH4", "url": "https://www.uniprot.org/uniprot/F5GYH4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GYH4-1", "url": "https://www.uniprot.org/uniprot/F5GYH4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H0Y2", "url": "https://www.uniprot.org/uniprot/F5H0Y2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H0Y2-1", "url": "https://www.uniprot.org/uniprot/F5H0Y2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H1Q7", "url": "https://www.uniprot.org/uniprot/F5H1Q7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H1Q7-1", "url": "https://www.uniprot.org/uniprot/F5H1Q7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H2H3", "url": "https://www.uniprot.org/uniprot/F5H2H3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H2H3-1", "url": "https://www.uniprot.org/uniprot/F5H2H3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H2R9", "url": "https://www.uniprot.org/uniprot/F5H2R9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H2R9-1", "url": "https://www.uniprot.org/uniprot/F5H2R9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H3P6", "url": "https://www.uniprot.org/uniprot/F5H3P6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H3P6-1", "url": "https://www.uniprot.org/uniprot/F5H3P6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H3U5", "url": "https://www.uniprot.org/uniprot/F5H3U5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H3U5-1", "url": "https://www.uniprot.org/uniprot/F5H3U5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H5X5", "url": "https://www.uniprot.org/uniprot/F5H5X5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H5X5-1", "url": "https://www.uniprot.org/uniprot/F5H5X5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H852", "url": "https://www.uniprot.org/uniprot/F5H852", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H852-1", "url": "https://www.uniprot.org/uniprot/F5H852-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H8G5", "url": "https://www.uniprot.org/uniprot/F5H8G5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5H8G5-1", "url": "https://www.uniprot.org/uniprot/F5H8G5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YB97", "url": "https://www.uniprot.org/uniprot/H0YB97", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YB97-1", "url": "https://www.uniprot.org/uniprot/H0YB97-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2V0", "url": "https://www.uniprot.org/uniprot/H7C2V0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H7C2V0-1", "url": "https://www.uniprot.org/uniprot/H7C2V0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60427-1", "url": "https://www.uniprot.org/uniprot/O60427-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60427-2", "url": "https://www.uniprot.org/uniprot/O60427-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAPDPVAAETAAQGPTPRYFTWDEVAQRSGCEERWLVIDRKVYNISEFTRRHPGGSRVISHYAGQDATDPFVAFHINKGLVKKYMNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVERMGLMKANHVFFLLYLLHILLLDGAAWLTLWVFGTSFLPFLLCAVLLSAVQAQAGWLQHDFGHLSVFSTSKWNHLLHHFVIGHLKGAPASWWNHMHFQHHAKPNCFRKDPDINMHPFFFALGKILSVELGKQKKKYMPYNHQHKYFFLIGPPALLPLYFQWYIFYFVIQRKKWVDLAWMITFYVRFFLTYVPLLGLKAFLGLFFIVRFLESNWFVWVTQMNHIPMHIDHDRNMDWVSTQLQATCNVHKSAFNDWFSGHLNFQIEHHLFPTMPRHNYHKVAPLVQSLCAKHGIEYQSKPLLSAFADIIHSLKESGQLWLDAYLHQ", "length": 444, "header": "sp|O60427-1|FADS1_HUMAN Isoform 1 of Acyl-CoA (8-3)-desaturase OS=Homo sapiens OX=9606 GN=FADS1 PE=1 SV=3 CANONICAL=O60427-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MR51-1", "url": "", "sequence": { "sequence": "MGTRAARPAGLPCGAENPARRRLALGARQQIHSWSPRTPSTRLTAPAGPARGVARPAMAPDPVAAETAAQGPTPRYFTWDEVAQRSGCEERWLVIDRKVYNISEFTRRHPGGSRVISHYAGQDATDPFVAFHINKGLVKKYMNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVERMGLMKANHVFFLLYLLHILLLDGAAWLTLWVFGTSFLPFLLCAVLLSAVQAQAGWLQHDFGHLSVFSTSKWNHLLHHFVIGHLKGAPASWWNHMHFQHHAKPNCFRKDPDINMHPFFFALGKILSVELGKQKKKYMPYNHQHKYFFLIGPPALLPLYFQWYIFYFVIQRKKWVDLAWMITFYVRFFLTYVPLLGLKAFLGLFFIVRFLESNWFVWVTQMNHIPMHIDHDRNMDWVSTQLQATCNVHKSAFNDWFSGHLNFQIEHHLFPTMPRHNYHKVAPLVQSLCAKHGIEYQSKPLLSAFADIIHSLKESGQLWLDAYLHQ", "length": 501, "header": "tr|A0A0A0MR51-1|A0A0A0MR51_HUMAN Computationally mapped isoform of Fatty acid desaturase 1 OS=Homo sapiens OX=9606 GN=FADS1 PE=1 SV=1 CANONICAL=O60427-1" }, "locus": { "chromosome": "11", "start_pos": 61816929, "end_pos": 61802414, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000350997.12", "url": "https://www.ensembl.org/id/ENST00000350997.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000322229.9", "url": "https://www.ensembl.org/id/ENSP00000322229.9" } ] } }, { "isoform_ac": "C9J425-1", "url": "", "sequence": { "sequence": "MNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVERMGLMKANHVF", "length": 47, "header": "tr|C9J425-1|FADS1_HUMAN Computationally mapped isoform of Acyl-CoA (8-3)-desaturase OS=Homo sapiens OX=9606 GN=FADS1 PE=1 SV=1 CANONICAL=O60427-1" }, "locus": { "chromosome": "11", "start_pos": 61813305, "end_pos": 61812591, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448607.1", "url": "https://www.ensembl.org/id/ENST00000448607.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000391229.1", "url": "https://www.ensembl.org/id/ENSP00000391229.1" } ] } }, { "isoform_ac": "C9JJB3-1", "url": "", "sequence": { "sequence": "MNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVERMGLMKANHVFFLLYLLHILLLDGAAWLTLWVFGTSFLPFLLCAVLLSAVQAQAGWLQHDFGHLSVFSTSKWNHLLHHFVIGHLKGAPASWWNHMHFQHHAKP", "length": 139, "header": "tr|C9JJB3-1|C9JJB3_HUMAN Computationally mapped isoform of Fatty acid desaturase 1 OS=Homo sapiens OX=9606 GN=FADS1 PE=1 SV=1 CANONICAL=O60427-1" }, "locus": { "chromosome": "11", "start_pos": 61813305, "end_pos": 61810826, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421879.5", "url": "https://www.ensembl.org/id/ENST00000421879.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000416043.1", "url": "https://www.ensembl.org/id/ENSP00000416043.1" } ] } }, { "isoform_ac": "F5GWE3-1", "url": "", "sequence": { "sequence": "MNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVERMGLMKANHVFFLLYLLHILLLDGAAWLTLWVFGTSFLPFLLCAVLLSAVQAQAGWLQHDFGHLSVFSTSKWNHLLHHFVIGHLKGAPASWWNHMHFQHHAKPNCFRKDPDINMHPFFFALGKILSVEV", "length": 165, "header": "tr|F5GWE3-1|FADS1_HUMAN Computationally mapped isoform of Acyl-CoA (8-3)-desaturase OS=Homo sapiens OX=9606 GN=FADS1 PE=1 SV=1 CANONICAL=O60427-1" }, "locus": { "chromosome": "11", "start_pos": 61813305, "end_pos": 61810748, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000540767.5", "url": "https://www.ensembl.org/id/ENST00000540767.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000441871.1", "url": "https://www.ensembl.org/id/ENSP00000441871.1" } ] } }, { "isoform_ac": "F5GYH4-1", "url": "", "sequence": { "sequence": "MNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVERMGLMKANHVFFLLYLLHILLLDGAAWLTLWVFGTSFLPFLLCAVLLSAVQAQAGWLQHDFGHLSVFSTSKWNHLLHHFVIGHLKGAPASWWNHMHFQHHAKPNCFRKDPDINMHPF", "length": 153, "header": "tr|F5GYH4-1|FADS1_HUMAN Computationally mapped isoform of Acyl-CoA (8-3)-desaturase OS=Homo sapiens OX=9606 GN=FADS1 PE=1 SV=1 CANONICAL=O60427-1" }, "locus": { "chromosome": "11", "start_pos": 61813305, "end_pos": 61810784, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545405.5", "url": "https://www.ensembl.org/id/ENST00000545405.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000440652.1", "url": "https://www.ensembl.org/id/ENSP00000440652.1" } ] } }, { "isoform_ac": "F5H0Y2-1", "url": "", "sequence": { "sequence": "MNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVERMGLMKANHVFFLLYLLHILLLDGAAWLTLWVFGTSFLPFLLCAVLLSAVQAQAGWLQHDFGHLSVFSTSKWN", "length": 109, "header": "tr|F5H0Y2-1|F5H0Y2_HUMAN Computationally mapped isoform of Fatty acid desaturase 1 OS=Homo sapiens OX=9606 GN=FADS1 PE=1 SV=1 CANONICAL=O60427-1" }, "locus": { "chromosome": "11", "start_pos": 61813305, "end_pos": 61811010, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544309.5", "url": "https://www.ensembl.org/id/ENST00000544309.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000439790.1", "url": "https://www.ensembl.org/id/ENSP00000439790.1" } ] } }, { "isoform_ac": "F5H1Q7-1", "url": "", "sequence": { "sequence": "MNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVERMGLMKANHVFFLLYLLHILLLDGAAWLTLWVFGTSFLPFLLCAVLLSAV", "length": 86, "header": "tr|F5H1Q7-1|FADS1_HUMAN Computationally mapped isoform of Acyl-CoA (8-3)-desaturase OS=Homo sapiens OX=9606 GN=FADS1 PE=1 SV=1 CANONICAL=O60427-1" }, "locus": { "chromosome": "11", "start_pos": 61813305, "end_pos": 61812474, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000539419.5", "url": "https://www.ensembl.org/id/ENST00000539419.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000438997.1", "url": "https://www.ensembl.org/id/ENSP00000438997.1" } ] } }, { "isoform_ac": "F5H2H3-1", "url": "", "sequence": { "sequence": "MNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVERMGLMKANHVFFLLYLLHILLLDGAAWLTLWVFGTSFLPFLLCAVLLSAVQAQAGWLQHDFGHLSVFSTSKWNH", "length": 110, "header": "tr|F5H2H3-1|FADS1_HUMAN Computationally mapped isoform of Acyl-CoA (8-3)-desaturase OS=Homo sapiens OX=9606 GN=FADS1 PE=1 SV=8 CANONICAL=O60427-1" }, "locus": { "chromosome": "11", "start_pos": 61813305, "end_pos": 61811007, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000466716.5", "url": "https://www.ensembl.org/id/ENST00000466716.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000446270.1", "url": "https://www.ensembl.org/id/ENSP00000446270.1" } ] } }, { "isoform_ac": "F5H2R9-1", "url": "", "sequence": { "sequence": "MNSLLIGELSPEQPSF", "length": 16, "header": "tr|F5H2R9-1|F5H2R9_HUMAN Computationally mapped isoform of Fatty acid desaturase 1 OS=Homo sapiens OX=9606 GN=FADS1 PE=4 SV=1 CANONICAL=O60427-1" }, "locus": { "chromosome": "11", "start_pos": 61813305, "end_pos": 61813258, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000473263.1", "url": "https://www.ensembl.org/id/ENST00000473263.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000445442.1", "url": "https://www.ensembl.org/id/ENSP00000445442.1" } ] } }, { "isoform_ac": "F5H3P6-1", "url": "", "sequence": { "sequence": "MITFYVRFFLTYVPLLGLKAFLGLFFIVRFLESNWFVWVTQMNHIPMHIDHDRNMDWVSTQLQATCNVHKSAFNDWFSGHLNFQIEHHLFPTMPRHNYHKVAPLVQSLCAKHGIEYQSKPLLSAFADIIHSLKESGQLWLDAYLHQ", "length": 146, "header": "tr|F5H3P6-1|F5H3P6_HUMAN Computationally mapped isoform of Fatty acid desaturase 1 OS=Homo sapiens OX=9606 GN=FADS1 PE=1 SV=1 CANONICAL=O60427-1" }, "locus": { "chromosome": "11", "start_pos": 61803755, "end_pos": 61802414, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000460649.5", "url": "https://www.ensembl.org/id/ENST00000460649.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000445253.1", "url": "https://www.ensembl.org/id/ENSP00000445253.1" } ] } }, { "isoform_ac": "F5H3U5-1", "url": "", "sequence": { "sequence": "MTFLCSCLLFVSVSSPVGPPALLPLYFQWYIFYFVIQRKKWVDLAWMITFYVRFFLTYVPLLGLKAFLGLFFIVRFLESNWFVWVTQMNHIPMHIDHDRNMDWVSTQLQATCNVHKSAFNDWFSGHLNFQIEHHLFPTMPRHNYHKVAPLVQSLCAKHGIEYQSKPLLSAFADIIHSLKESGQLWLDAYLHQ", "length": 192, "header": "tr|F5H3U5-1|FADS1_HUMAN Computationally mapped isoform of Acyl-CoA (8-3)-desaturase OS=Homo sapiens OX=9606 GN=FADS1 PE=1 SV=1 CANONICAL=O60427-1" }, "locus": { "chromosome": "11", "start_pos": 61804810, "end_pos": 61802414, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000536991.5", "url": "https://www.ensembl.org/id/ENST00000536991.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000439097.1", "url": "https://www.ensembl.org/id/ENSP00000439097.1" } ] } }, { "isoform_ac": "F5H5X5-1", "url": "", "sequence": { "sequence": "MNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVERMGLMKANHVFFLLYLLHILLLDGAAWLTLWVFGTSFLPFLLCAVLLSAVQAQAGWLQHDFGHLSVFSTSKWNHLL", "length": 112, "header": "tr|F5H5X5-1|F5H5X5_HUMAN Computationally mapped isoform of Fatty acid desaturase 1 OS=Homo sapiens OX=9606 GN=FADS1 PE=1 SV=1 CANONICAL=O60427-1" }, "locus": { "chromosome": "11", "start_pos": 61813305, "end_pos": 61811001, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544696.5", "url": "https://www.ensembl.org/id/ENST00000544696.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000443037.1", "url": "https://www.ensembl.org/id/ENSP00000443037.1" } ] } }, { "isoform_ac": "F5H852-1", "url": "", "sequence": { "sequence": "MNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVERMGLMKANHVFFLLYLLHILLLDGAAWLTLWVFGTSFLPFLLCAVLLSAVQAQAGWLQHDFGHLSVFSTSKWNHLLHHFVIGHLKGAPASWWNHMHFQHHAKPNCFRKDPDINMHPFFFALGKILSVE", "length": 164, "header": "tr|F5H852-1|F5H852_HUMAN Computationally mapped isoform of Fatty acid desaturase 1 OS=Homo sapiens OX=9606 GN=FADS1 PE=1 SV=1 CANONICAL=O60427-1" }, "locus": { "chromosome": "11", "start_pos": 61813305, "end_pos": 61810751, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000545245.5", "url": "https://www.ensembl.org/id/ENST00000545245.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000442170.1", "url": "https://www.ensembl.org/id/ENSP00000442170.1" } ] } }, { "isoform_ac": "F5H8G5-1", "url": "", "sequence": { "sequence": 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(8-3)-desaturase OS=Homo sapiens OX=9606 GN=FADS1 PE=1 SV=1 CANONICAL=O60427-1" }, "locus": { "chromosome": "11", "start_pos": 61816778, "end_pos": 61810973, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000491310.5", "url": "https://www.ensembl.org/id/ENST00000491310.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000429016.1", "url": "https://www.ensembl.org/id/ENSP00000429016.1" } ] } }, { "isoform_ac": "H7C2V0-1", "url": "", "sequence": { "sequence": "XARPAMAPDPVAAETAAQGPTPRYFTWDEVAQRSGCEERWLVIDRKVYNISEFTRRHPGGSRVISHYAGQDATDPFVAFHINKGLVKKYMNSLLIGELSPEQPSFEPTKNKELTDEFRELRATVERMGLMKANHVFFLLYLLHILLLDGAAWLTLWVFGTSFLPFLLCAVLLSAVQHFGRPRWPDHLISVQDQPGQRGETSTKNTKRPGTVAHACNTSTLGGQDGQII", "length": 228, "header": "tr|H7C2V0-1|FADS1_HUMAN Computationally mapped isoform of Acyl-CoA (8-3)-desaturase OS=Homo sapiens OX=9606 GN=FADS1 PE=1 SV=1 CANONICAL=O60427-1" }, "locus": { "chromosome": "11", "start_pos": 61816771, "end_pos": 61811821, "strand": "+", 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"authors": "Leonard AE, Bobik EG, Dorado J, Kroeger PE, Chuang LT, Thurmond JM, Parker-Barnes JM, Das T, Huang YS, Mukerji P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046105" } ], "reference": [ { "type": "PubMed", "id": "10970790", "url": "https://glygen.org/publication/PubMed/10970790" } ] }, { "title": "Alternative splicing and tissue-specific transcription of human and rodent ubiquitous 5-aminolevulinate synthase (ALAS1) genes.", "journal": "Biochimica et biophysica acta", "date": "2001", "authors": "Roberts AG, Elder GH", "evidence": [ { "database": "Reactome", "id": "R-HSA-1989781", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781" } ], "reference": [ { "type": "PubMed", "id": "11267664", "url": "https://glygen.org/publication/PubMed/11267664" } ] }, { "title": "Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Su HM, Moser AB, Moser HW, Watkins PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "11500517", "url": "https://glygen.org/publication/PubMed/11500517" } ] }, { "title": "Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid.", "journal": "Journal of lipid research", "date": "2001", "authors": "Ferdinandusse S, Denis S, Mooijer PA, Zhang Z, Reddy JK, Spector AA, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "11734571", "url": "https://glygen.org/publication/PubMed/11734571" } ] }, { "title": "The same rat Delta6-desaturase not only acts on 18- but also on 24-carbon fatty acids in very-long-chain polyunsaturated fatty acid biosynthesis.", "journal": "The Biochemical journal", "date": "2002", "authors": "D'andrea S, Guillou H, Jan S, Catheline D, Thibault JN, Bouriel M, Rioux V, Legrand P", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "11988075", "url": "https://glygen.org/publication/PubMed/11988075" } ] }, { "title": "Peroxisome proliferator-activated receptor alpha (PPARalpha ) turnover by the ubiquitin-proteasome system controls the ligand-induced expression level of its target genes.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Blanquart C, Barbier O, Fruchart JC, Staels B, Glineur C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1989781", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989781" } ], "reference": [ { "type": "PubMed", "id": "12118000", "url": 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"reference": [ { "type": "PubMed", "id": "12505311", "url": "https://glygen.org/publication/PubMed/12505311" } ] }, { "title": "Regulation of human delta-6 desaturase gene transcription: identification of a functional direct repeat-1 element.", "journal": "Journal of lipid research", "date": "2003", "authors": "Tang C, Cho HP, Nakamura MT, Clarke SD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2046106", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046106" } ], "reference": [ { "type": "PubMed", "id": "12562861", "url": "https://glygen.org/publication/PubMed/12562861" } ] }, { "title": "The UDP-glucuronosyltransferase 1A9 enzyme is a peroxisome proliferator-activated receptor alpha and gamma target gene.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Barbier O, Villeneuve L, Bocher V, Fontaine C, Torra IP, Duhem C, Kosykh V, Fruchart JC, Guillemette C, Staels B", "evidence": [ { "database": "Reactome", "id": "R-HSA-1989781", "url": 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"https://www.uniprot.org/uniprot/O60427" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water", "id": "GO:0016717", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016717", "evidence": [ { "database": "UniProtKB", "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427" } ], "pmid": "" }, { "name": "acyl-CoA delta5-desaturase activity", "id": "GO:0062076", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062076", "evidence": [ { "database": "UniProtKB", "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 12, "go_terms": [ { "name": "fatty acid biosynthetic process", "id": "GO:0006633", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006633", "evidence": [ { "database": "UniProtKB", "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427" } ], "pmid": "" }, { "name": "icosanoid biosynthetic process", "id": "GO:0046456", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046456", "evidence": [ { "database": "UniProtKB", "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427" } ], "pmid": "" }, { "name": "lipid metabolic process", "id": "GO:0006629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006629", "evidence": [ { "database": "UniProtKB", "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427" } ], "pmid": "" }, { "name": "cell-cell signaling", "id": "GO:0007267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007267", "evidence": [ { "database": "UniProtKB", "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427" } ], "pmid": "" }, { "name": "alpha-linolenic acid metabolic process", "id": "GO:0036109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036109", "evidence": [ { "database": "UniProtKB", "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427" } ], "pmid": "" }, { "name": "linoleic acid metabolic process", "id": "GO:0043651", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043651", "evidence": [ { "database": "UniProtKB", "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427" } ], "pmid": "" }, { "name": "unsaturated fatty acid biosynthetic process", "id": "GO:0006636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006636", "evidence": [ { "database": "UniProtKB", "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427" } ], "pmid": "" }, { "name": "regulation of cell differentiation", "id": "GO:0045595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045595", "evidence": [ { "database": "UniProtKB", "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427" } ], "pmid": "" }, { "name": "cellular response to starvation", "id": "GO:0009267", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009267", "evidence": [ { "database": "UniProtKB", "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427" } ], "pmid": "" }, { "name": "phospholipid biosynthetic process", "id": "GO:0008654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008654", "evidence": [ { "database": "UniProtKB", "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427" } ], "pmid": "" }, { "name": "long-chain fatty acid biosynthetic process", "id": "GO:0042759", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042759", "evidence": [ { "database": "UniProtKB", "id": "O60427", "url": "https://www.uniprot.org/uniprot/O60427" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 44, "end_pos": 46, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "46060", "name": "", "equation": "(11E)-octadecenoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (5Z,11E)-octadecadienoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q920R3-1", "O60427-1", "Q920L1-1" ], "evidence": [ { "id": "46060", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46060" } ] }, { "id": "46420", "name": "", "equation": "(8Z,11Z,14Z,17Z)-eicosatetraenoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (5Z,8Z,11Z,14Z,17Z)-eicosapentaenoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q920R3-1", "O60427-1", "Q920L1-1" ], "evidence": [ { "id": "46420", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46420" } ] }, { "id": "46424", "name": "", "equation": "(8Z,11Z,14Z)-eicosatrienoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q920R3-1", "O60427-1", "Q920L1-1" ], "evidence": [ { "id": "46424", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/46424" } ] }, { "id": "R-HSA-1989757", "name": "Expression of FADS1", "equation": "", "summary": "The FADS1 gene is transcribed to yield mRNA and the mRNA is translated to yield protein.", "cellular_location": "endoplasmic reticulum membrane, nucleoplasm", "input_participant_list": [ "R-HSA-5649932" ], "output_participant_list": [ "R-HSA-400122" ], "enzyme_list": [ "Q15788-1", "O60427-1", "Q92793-1", "Q96RS0-1", "Q86X55-3", "Q3L8U1-1", "Q9BYK8-1" ], "evidence": [ { "id": "R-HSA-1989757", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1989757" } ] }, { "id": "R-HSA-2046089", "name": "Desaturation of eicosatetraenoyl-CoA to eicosapentaenoyl-CoA", "equation": "", "summary": "Eicosatetraenoyl-CoA (ETA-CoA) is desaturated by an additional carbon-carbon bond to form 5Z,8Z,11Z,14Z,17Z-eicosapentaenoyl-CoA (EPA-CoA, 5,8,11,14,17-20:5(n-3)). Delta-5-desaturase is required for this conversion. EPA-CoA has health benefits due to its anti-inflammatory actions. It is a precursor for the anti-inflammatory series-3 prostaglandins (PG), the series-5 leukotrienes (LT) and the series-3 thromboxanes (TA), which are anti-atherogenic and anti-thrombogenic (Ross et al. 2009).", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-2046051" ], "output_participant_list": [], "enzyme_list": [ "O60427-1" ], "evidence": [ { "id": "R-HSA-2046089", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046089" } ] }, { "id": "R-HSA-2046092", "name": "Desaturation of dihomo-gamma-lenolenoyl-CoA to arachidonoyl-CoA", "equation": "", "summary": "DGL-CoA (8,11,14-eicosatrienoyl-CoA) undergoes desaturation by delta 5-desaturase (D5-desaturase) forming arachidonoyl-CoA (AA-CoA, 5,8,11,14-Eicosatetraenoic acid). D5-desaturase has 62% sequence identity with D6-desaturase but desaturates a different carbon atom, adding a double bond at position C5 in arachidonoyl-CoA (AA-CoA). AA can be metabolized by variety of oxygenases (including cyclo-oxygenase and lipoxygenase systems) to form a family of varying products known as eicosanoids, prostaglandins, leukotrines and thromboxanes thus playing important role in inflamation response.", "cellular_location": "endoplasmic reticulum lumen, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-2046045" ], "output_participant_list": [], "enzyme_list": [ "O60427-1" ], "evidence": [ { "id": "R-HSA-2046092", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2046092" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-2046045", "participant_name": "DGL-CoA [endoplasmic reticulum lumen]", "crossref": [ { "id": "27979", "database": "ChEBI", "url": "" }, { "id": "HMDB0003947", "database": "HMDB Metabolite", "url": "" }, { "id": "C03595", "database": "COMPOUND", "url": "" }, { "id": "27979", "database": "ChEBI", "url": "" }, { "id": "HMDB0003947", "database": "HMDB Metabolite", "url": "" }, { "id": "C03595", "database": "COMPOUND", "url": "" }, { "id": "27979", "database": "ChEBI", "url": "" }, { "id": "HMDB0003947", "database": "HMDB Metabolite", "url": "" }, { "id": "C03595", "database": "COMPOUND", "url": "" }, { "id": "27979", "database": "ChEBI", "url": "" }, { "id": "HMDB0003947", "database": "HMDB Metabolite", "url": "" }, { "id": "C03595", "database": "COMPOUND", "url": "" }, { "id": "27979", "database": "ChEBI", "url": "" }, { "id": "HMDB0003947", "database": "HMDB Metabolite", "url": "" }, { "id": "C03595", "database": "COMPOUND", "url": "" }, { "id": "27979", "database": "ChEBI", "url": "" }, { "id": "HMDB0003947", "database": "HMDB Metabolite", "url": "" }, { "id": "C03595", "database": "COMPOUND", "url": "" }, { "id": "27979", "database": "ChEBI", "url": "" }, { "id": "HMDB0003947", "database": "HMDB Metabolite", "url": "" }, { "id": "C03595", "database": "COMPOUND", "url": "" } ] }, { "participant_id": "R-ALL-2046051", "participant_name": "ETA-CoA [endoplasmic reticulum lumen]", "crossref": [ { "id": "63542", "database": "ChEBI", "url": "" }, { "id": "63542", "database": "ChEBI", "url": "" }, { "id": "63542", "database": "ChEBI", "url": "" }, { "id": "63542", "database": "ChEBI", "url": "" }, { "id": "63542", "database": "ChEBI", "url": "" }, { "id": "63542", "database": "ChEBI", "url": "" }, { "id": "63542", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-HSA-400122", "participant_name": "FADS1 [endoplasmic reticulum membrane]", "crossref": [ { "id": "O60427", "database": "PRO", "url": "" }, { "id": "O60427", "database": "Pharos - Targets", "url": "" }, { "id": "ENSG00000149485-FADS1", "database": "HPA", "url": "" }, { "id": "ENSP00000405087", "database": "Ensembl", "url": "" }, { "id": "ENSP00000441403", "database": "Ensembl", "url": "" }, { "id": "HMDBP02649", "database": "HMDB Protein", "url": "" }, { "id": "25431", "database": "Orphanet", "url": "" }, { "id": "FADS1_HUMAN", "database": "ZINC - Predictions - Purchasable", "url": "" }, { "id": "O60427", "database": "UniProt", "url": "" }, { "id": "O60427", "database": "ZINC target", "url": "" }, { "id": "ENSG00000149485", "database": "Ensembl", "url": "" }, { "id": "FADS1_HUMAN", "database": "ZINC - Substances", "url": "" }, { "id": "ENSG00000149485", "database": "OpenTargets", "url": "" }, { "id": "NP_037534.3", "database": "RefSeq", "url": "" }, { "id": "O60427", "database": "GeneCards", "url": "" }, { "id": "ENST00000433932", "database": "Ensembl", "url": "" }, { "id": "ENST00000542506", "database": "Ensembl", "url": "" } ] }, { "participant_id": "R-HSA-5649932", "participant_name": "FADS1 gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000149485", "database": "ENSEMBL", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O60427", "gene_name": "FADS1", "activity": [ { "ec_number": "1.14.19.44", "activity": "(8Z,11Z,14Z,17Z)-eicosatetraenoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (5Z,8Z,11Z,14Z,17Z)-eicosapentaenoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O.", "evidence": [ { "id": "O60427", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60427" } ] }, { "ec_number": "1.14.19.44", "activity": "", "evidence": [ { "id": "O60427", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60427" } ] } ] }, { "uniprot_ac": "Q15788", "gene_name": "NCOA1", "activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q15788", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15788" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q15788", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15788" } ] } ] }, { "uniprot_ac": "Q3L8U1", "gene_name": "CHD9", "activity": [ { "ec_number": "3.6.4.12", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "Q3L8U1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3L8U1" } ] }, { "ec_number": "3.6.4.12", "activity": "", "evidence": [ { "id": "Q3L8U1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3L8U1" } ] } ] }, { "uniprot_ac": "Q86X55", "gene_name": "CARM1", "activity": [ { "ec_number": "2.1.1.319", "activity": "L-arginyl-[protein] + 2 S-adenosyl-L-methionine = 2 H(+) + N(omega),N(omega)-dimethyl-L-arginyl-[protein] + 2 S-adenosyl-L-homocysteine.", "evidence": [ { "id": "Q86X55", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86X55" } ] }, { "ec_number": "2.1.1.319", "activity": "", "evidence": [ { "id": "Q86X55", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86X55" } ] } ] }, { "uniprot_ac": "Q920L1", "gene_name": "Fads1", "activity": [ { "ec_number": "1.14.19.44", "activity": "(8Z,11Z,14Z,17Z)-eicosatetraenoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (5Z,8Z,11Z,14Z,17Z)-eicosapentaenoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O.", "evidence": [ { "id": "Q920L1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q920L1" } ] }, { "ec_number": "1.14.19.44", "activity": "", "evidence": [ { "id": "Q920L1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q920L1" } ] } ] }, { "uniprot_ac": "Q920R3", "gene_name": "Fads1", "activity": [ { "ec_number": "1.14.19.44", "activity": "(8Z,11Z,14Z,17Z)-eicosatetraenoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (5Z,8Z,11Z,14Z,17Z)-eicosapentaenoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O.", "evidence": [ { "id": "Q920R3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q920R3" } ] }, { "ec_number": "1.14.19.44", "activity": "", "evidence": [ { "id": "Q920R3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q920R3" } ] } ] }, { "uniprot_ac": "Q92793", "gene_name": "CREBBP", "activity": [ { "ec_number": "2.3.1.48", "activity": "acetyl-CoA + L-lysyl-[histone] = CoA + H(+) + N(6)-acetyl-L-lysyl-[histone].", "evidence": [ { "id": "Q92793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92793" } ] }, { "ec_number": "2.3.1.48", "activity": "", "evidence": [ { "id": "Q92793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92793" } ] }, { "ec_number": "2.3.1.-", "activity": "", "evidence": [ { "id": "Q92793", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q92793" } ] } ] }, { "uniprot_ac": "Q96RS0", "gene_name": "TGS1", "activity": [ { "ec_number": "2.1.1.-", "activity": "", "evidence": [ { "id": "Q96RS0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q96RS0" } ] } ] }, { "uniprot_ac": "Q9BYK8", "gene_name": "HELZ2", "activity": [ { "ec_number": "3.1.13.1", "activity": "Exonucleolytic cleavage in the 3'- to 5'-direction to yield nucleoside 5'-phosphates.", "evidence": [ { "id": "Q9BYK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BYK8" } ] }, { "ec_number": "3.6.4.13", "activity": "ATP + H2O = ADP + H(+) + phosphate.", "evidence": [ { "id": "Q9BYK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BYK8" } ] }, { "ec_number": "3.1.13.1", "activity": "", "evidence": [ { "id": "Q9BYK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BYK8" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 44, "end_pos": 46 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 60 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }