{ "uniprot_canonical_ac": "O00767-1", "uniprot_ac": "O00767", "uniprot_id": "SCD_HUMAN", "mass": { "chemical_mass": 41523.0, "monoisotopic_mass": 41523.0 }, "refseq": { "ac": "NP_005054", "name": "stearoyl-CoA desaturase", "summary": "This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005054" }, "gene_names": [ { "name": "SCD", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00767", "id": "O00767" }, { "name": "FADS5; hSCD1; MSTP008; SCD1; SCDOS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005054", "id": "NP_005054" }, { "name": "FADS5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00767", "id": "O00767" }, { "name": "SCD1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00767", "id": "O00767" }, { "name": "SCDOS", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00767", "id": "O00767" }, { "name": "SCD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005054", "id": "NP_005054" } ], "protein_names": [ { "name": "Stearoyl-CoA desaturase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00767" }, { "name": "1.14.19.1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00767" }, { "name": "Acyl-CoA desaturase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00767" }, { "name": "Delta(9)-desaturase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00767" }, { "name": "Delta-9 desaturase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00767" }, { "name": "Fatty acid desaturase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00767" }, { "name": "hSCD1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00767" }, { "name": "stearoyl-CoA desaturase opposite strand; acyl-CoA desaturase; fatty acid desaturase; predicted protein of HQ0998; delta(9)-desaturase; stearoyl-CoA desaturase (delta-9-desaturase)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005054", "id": "NP_005054" }, { "name": "stearoyl-CoA desaturase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005054", "id": "NP_005054" } ], "function": [ { "annotation": "Allele-specific effect of various dietary fatty acids and ETS1 transcription factor on SCD1 expression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005054" }, { "database": "PubMed", "id": "38167845", "url": "https://glygen.org/publication/PubMed/38167845" } ] }, { "annotation": "Deltex E3 ubiquitin ligase 4 promotes thyroid cancer progression through stearoyl-CoA desaturase 1. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005054" }, { "database": "PubMed", "id": "37612343", "url": "https://glygen.org/publication/PubMed/37612343" } ] }, { "annotation": "Identification and experimental validation of Stearoyl-CoA desaturase is a new drug therapeutic target for osteosarcoma.", "evidence": [ { "database": "RefSeq", "id": "NP_005054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005054" }, { "database": "PubMed", "id": "38070637", "url": "https://glygen.org/publication/PubMed/38070637" } ] }, { "annotation": "SCD1 inhibits HBV replication by regulating autophagy under high lipid conditions.", "evidence": [ { "database": "RefSeq", "id": "NP_005054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005054" }, { "database": "PubMed", "id": "37644346", "url": "https://glygen.org/publication/PubMed/37644346" } ] }, { "annotation": "Stearoyl-CoA desaturase 1 inhibition impairs triacylglycerol accumulation and lipid droplet formation in colorectal cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_005054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005054" }, { "database": "PubMed", "id": "37814830", "url": "https://glygen.org/publication/PubMed/37814830" } ] }, { "annotation": "Stearoyl-CoA desaturase that utilizes O(2) and electrons from reduced cytochrome b5 to introduce the first double bond into saturated fatty acyl-CoA substrates (PubMed:15907797, PubMed:18765284). Catalyzes the insertion of a cis double bond at the delta-9 position into fatty acyl-CoA substrates including palmitoyl-CoA and stearoyl-CoA (PubMed:15907797, PubMed:18765284). Gives rise to a mixture of 16:1 and 18:1 unsaturated fatty acids (PubMed:15610069). Plays an important role in lipid biosynthesis. Plays an important role in regulating the expression of genes that are involved in lipogenesis and in regulating mitochondrial fatty acid oxidation (By similarity). Plays an important role in body energy homeostasis (By similarity). Contributes to the biosynthesis of membrane phospholipids, cholesterol esters and triglycerides (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767#function" }, { "database": "PubMed", "id": "18765284", "url": "https://glygen.org/publication/PubMed/18765284" }, { "database": "PubMed", "id": "15907797", "url": "https://glygen.org/publication/PubMed/15907797" }, { "database": "UniProtKB", "id": "P13516", "url": "https://www.uniprot.org/uniprot/P13516#function" }, { "database": "PubMed", "id": "15610069", "url": "https://glygen.org/publication/PubMed/15610069" } ] }, { "annotation": "This gene encodes an enzyme involved in fatty acid biosynthesis, primarily the synthesis of oleic acid. The protein belongs to the fatty acid desaturase family and is an integral membrane protein located in the endoplasmic reticulum. Transcripts of approximately 3.9 and 5.2 kb, differing only by alternative polyadenlyation signals, have been detected. A gene encoding a similar enzyme is located on chromosome 4 and a pseudogene of this gene is located on chromosome 17. [provided by RefSeq, Sep 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_005054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005054" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "82.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099194" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "96.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099194" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "90.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099194" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "94.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099194" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099194" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099194" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "93.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099194" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "86.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099194" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "71.76", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000099194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099194" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "93.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099194" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "98.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099194" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099194" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000099194", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000099194" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00767", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00767" } ], "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 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"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, 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"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 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"name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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": "O00767", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00767" } ], "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": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": "O00767", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00767" } ], "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. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00767" } ], "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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"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 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00767", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00767" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00767" } ], "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": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"sp|O00767-1|SCD_HUMAN Isoform 1 of Stearoyl-CoA desaturase OS=Homo sapiens OX=9606 GN=SCD PE=1 SV=2 CANONICAL=O00767-1" }, "locus": { "chromosome": "10", "start_pos": 100360930, "end_pos": 100347505, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000370355.3", "url": "https://www.ensembl.org/id/ENST00000370355.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000359380.2", "url": "https://www.ensembl.org/id/ENSP00000359380.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O00767", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00767" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" } ] } ], "phosphorylation": [ { "start_pos": 14, "end_pos": 14, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00767", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00767" }, { "database": "PubMed", "id": "28724430", "url": "https://glygen.org/publication/PubMed/28724430" } ], "site_lbl": "Tyr14" }, { "start_pos": 198, "end_pos": 198, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00767", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00767" }, { "database": "PubMed", "id": "18578522", "url": "https://glygen.org/publication/PubMed/18578522" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "phospho.ELM", "id": "O00767", "url": "http://phospho.elm.eu.org/byAccession/O00767.html" } ], "site_lbl": "Ser198" }, { "start_pos": 199, "end_pos": 199, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00767", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00767" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Thr199" }, { "start_pos": 203, "end_pos": 203, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00767", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00767" } ], "site_lbl": "Ser203" }, { "start_pos": 351, "end_pos": 351, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00767", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00767" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Thr351" }, { "start_pos": 41, "end_pos": 41, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00767", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00767" }, { "database": "PubMed", "id": "28724430", "url": "https://glygen.org/publication/PubMed/28724430" } ], "site_lbl": "Tyr41" }, { "start_pos": 55, "end_pos": 55, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00767", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00767" }, { "database": "PubMed", "id": "28724430", "url": "https://glygen.org/publication/PubMed/28724430" } ], "site_lbl": "Tyr55" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human stearoyl-CoA desaturase: alternative transcripts generated from a single gene by usage of tandem polyadenylation sites.", "journal": "Biochem. J.", "date": "1999", "authors": "Zhang L, Ge L, Parimoo S, Stenn K, Prouty SM", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767" }, { "database": "Reactome", "id": "R-HSA-75105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75105" } ], "reference": [ { "type": "PubMed", "id": "10229681", "url": "https://glygen.org/publication/PubMed/10229681" } ] }, { "title": "Identification of conserved cis-elements and transcription factors required for sterol-regulated transcription of stearoyl-CoA desaturase 1 and 2.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Tabor DE, Kim JB, Spiegelman BM, Edwards PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "10400691", "url": "https://glygen.org/publication/PubMed/10400691" } ] }, { "title": "Sterol regulation of human fatty acid synthase promoter I requires nuclear factor-Y- and Sp-1-binding sites.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Xiong S, Chirala SS, Wakil SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "10759542", "url": "https://glygen.org/publication/PubMed/10759542" } ] }, { "title": "Identification of liver X receptor-retinoid X receptor as an activator of the sterol regulatory element-binding protein 1c gene promoter.", "journal": "Molecular and cellular biology", "date": "2001", "authors": "Yoshikawa T, Shimano H, Amemiya-Kudo M, Yahagi N, Hasty AH, Matsuzaka T, Okazaki H, Tamura Y, Iizuka Y, Ohashi K, Osuga J, Harada K, Gotoda T, Kimura S, Ishibashi S, Yamada N", "evidence": [ { "database": "Reactome", "id": "R-HSA-9029558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029558" } ], "reference": [ { "type": "PubMed", "id": "11287605", "url": "https://glygen.org/publication/PubMed/11287605" } ] }, { "title": "Cloning and characterization of the human stearoyl-CoA desaturase gene promoter: transcriptional activation by sterol regulatory element binding protein and repression by polyunsaturated fatty acids and cholesterol.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Bene H, Lasky D, Ntambi JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "11414710", "url": "https://glygen.org/publication/PubMed/11414710" } ] }, { "title": "Isolation and characterization of the human stearoyl-CoA desaturase gene promoter: requirement of a conserved CCAAT cis-element.", "journal": "Biochem. J.", "date": "2001", "authors": "Zhang L, Ge L, Tran T, Stenn K, Prouty S M", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767" } ], "reference": [ { "type": "PubMed", "id": "11415448", "url": "https://glygen.org/publication/PubMed/11415448" } ] }, { "title": "Direct and indirect mechanisms for regulation of fatty acid synthase gene expression by liver X receptors.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Joseph SB, Laffitte BA, Patel PH, Watson MA, Matsukuma KE, Walczak R, Collins JL, Osborne TF, Tontonoz P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9029558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029558" } ], "reference": [ { "type": "PubMed", "id": "11790787", "url": "https://glygen.org/publication/PubMed/11790787" } ] }, { "title": "SREBP-2 and NF-Y are involved in the transcriptional regulation of squalene epoxidase.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Nagai M, Sakakibara J, Nakamura Y, Gejyo F, Ono T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "12083769", "url": "https://glygen.org/publication/PubMed/12083769" } ] }, { "title": "Transcriptional activities of nuclear SREBP-1a, -1c, and -2 to different target promoters of lipogenic and cholesterogenic genes.", "journal": "Journal of lipid research", "date": "2002", "authors": "Amemiya-Kudo M, Shimano H, Hasty AH, Yahagi N, Yoshikawa T, Matsuzaka T, Okazaki H, Tamura Y, Iizuka Y, Ohashi K, Osuga J, Harada K, Gotoda T, Sato R, Kimura S, Ishibashi S, Yamada N", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "12177166", "url": "https://glygen.org/publication/PubMed/12177166" } ] }, { "title": "Regulation of the angiopoietin-like protein 3 gene by LXR.", "journal": "Journal of lipid research", "date": "2003", "authors": "Kaplan R, Zhang T, Hernandez M, Gan FX, Wright SD, Waters MG, Cai TQ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9029558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029558" } ], "reference": [ { "type": "PubMed", "id": "12518032", "url": "https://glygen.org/publication/PubMed/12518032" } ] }, { "title": "Structural and functional organization of the animal fatty acid synthase.", "journal": "Progress in lipid research", "date": "2003", "authors": "Smith S, Witkowski A, Joshi AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-75105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75105" } ], "reference": [ { "type": "PubMed", "id": "12689621", "url": "https://glygen.org/publication/PubMed/12689621" } ] }, { "title": "Acetyl-CoA carboxylase beta gene is regulated by sterol regulatory element-binding protein-1 in 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"authors": "Ohno S, Nishikawa K, Honda Y, Nakajin S", "evidence": [ { "database": "Reactome", "id": "R-HSA-75105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75105" } ], "reference": [ { "type": "PubMed", "id": "17978863", "url": "https://glygen.org/publication/PubMed/17978863" } ] }, { "title": "Differential activation of recombinant human acetyl-CoA carboxylases 1 and 2 by citrate.", "journal": "Archives of biochemistry and biophysics", "date": "2008", "authors": "Locke GA, Cheng D, Witmer MR, Tamura JK, Haque T, Carney RF, Rendina AR, Marcinkeviciene J", "evidence": [ { "database": "Reactome", "id": "R-HSA-75105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75105" } ], "reference": [ { "type": "PubMed", "id": "18455495", "url": "https://glygen.org/publication/PubMed/18455495" } ] }, { "title": "Microarray analyses of SREBP-1a and SREBP-1c target genes identify new regulatory pathways in muscle.", "journal": "Physiological genomics", "date": "2008", "authors": 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isomerase.", "journal": "Genomics", "date": "1994", "authors": "Xuan JW, Kowalski J, Chambers AF, Denhardt DT", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "8020941", "url": "https://glygen.org/publication/PubMed/8020941" } ] }, { "title": "SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene.", "journal": "Cell", "date": "1993", "authors": "Yokoyama C, Wang X, Briggs MR, Admon A, Wu J, Hua X, Goldstein JL, Brown MS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9029558", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029558" } ], "reference": [ { "type": "PubMed", "id": "8402897", "url": "https://glygen.org/publication/PubMed/8402897" } ] }, { "title": "The ubiquitously expressed human CYP51 encodes lanosterol 14 alpha-demethylase, a cytochrome P450 whose expression is regulated by oxysterols.", "journal": "Archives of biochemistry and biophysics", "date": "1996", "authors": "Stromstedt M, Rozman D, Waterman MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "8619637", "url": "https://glygen.org/publication/PubMed/8619637" } ] }, { "title": "Molecular cloning and expression of the cDNAs encoding human and yeast mevalonate pyrophosphate decarboxylase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Toth MJ, Huwyler L", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "8626466", "url": "https://glygen.org/publication/PubMed/8626466" } ] }, { "title": "Transcriptional regulation of squalene epoxidase by sterols and inhibitors in HeLa cells.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Nakamura Y, Sakakibara J, Izumi T, Shibata A, Ono T", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "8626488", "url": "https://glygen.org/publication/PubMed/8626488" } ] }, { "title": "A direct role for sterol regulatory element binding protein in activation of 3-hydroxy-3-methylglutaryl coenzyme A reductase gene.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Vallett SM, Sanchez HB, Rosenfeld JM, Osborne TF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "8647822", "url": "https://glygen.org/publication/PubMed/8647822" } ] }, { "title": "Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequence.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Chambliss KL, Slaughter CA, Schreiner R, Hoffmann GF, Gibson KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "8663599", "url": "https://glygen.org/publication/PubMed/8663599" } ] }, { "title": "Synergistic binding of sterol regulatory element-binding protein and NF-Y to the farnesyl diphosphate synthase promoter is critical for sterol-regulated expression of the gene.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Ericsson J, Jackson SM, Edwards PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "8798690", "url": "https://glygen.org/publication/PubMed/8798690" } ] }, { "title": "Molecular cloning and mapping of a human cDNA (SC5DL) encoding a protein homologous to fungal sterol-C5-desaturase.", "journal": "Cytogenetics and cell genetics", "date": "1996", "authors": "Matsushima M, Inazawa J, Takahashi E, Suzumori K, Nakamura Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "8976377", "url": "https://glygen.org/publication/PubMed/8976377" } ] }, { "title": "Human acetyl-CoA carboxylase 2. Molecular cloning, characterization, chromosomal mapping, and evidence for two isoforms.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Abu-Elheiga L, Almarza-Ortega DB, Baldini A, Wakil SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "9099716", "url": "https://glygen.org/publication/PubMed/9099716" } ] }, { "title": "Molecular cloning and expression of palmitoyl-protein thioesterase 2 (PPT2), a homolog of lysosomal palmitoyl-protein thioesterase with a distinct substrate specificity.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Soyombo AA, Hofmann SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-75105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75105" } ], "reference": [ { "type": "PubMed", "id": "9341199", "url": "https://glygen.org/publication/PubMed/9341199" } ] }, { "title": "Multiple DNA elements for sterol regulatory element-binding protein and NF-Y are responsible for sterol-regulated transcription of the genes for human 3-hydroxy-3-methylglutaryl coenzyme A synthase and squalene synthase.", "journal": "Journal of biochemistry", "date": "1998", "authors": "Inoue J, Sato R, Maeda M", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "9604010", "url": "https://glygen.org/publication/PubMed/9604010" } ] }, { "title": "Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.", "journal": "American journal of human genetics", "date": "1998", "authors": "Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "9634533", "url": "https://glygen.org/publication/PubMed/9634533" } ] }, { "title": "Differential stimulation of cholesterol and unsaturated fatty acid biosynthesis in cells expressing individual nuclear sterol regulatory element-binding proteins.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Pai JT, Guryev O, Brown MS, Goldstein JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2426168", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168" } ], "reference": [ { "type": "PubMed", "id": "9748295", "url": "https://glygen.org/publication/PubMed/9748295" } ] } ], "pathway": [ { "id": "hsa:6319", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6319", "resource": "KEGG Pathway" }, { "id": "R-HSA-2426168", "name": "Activation of gene expression by SREBF (SREBP)", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2426168", "resource": "Reactome", "description": "Activation of gene expression by SREBF (SREBP)" }, { "id": "R-HSA-75105", "name": "Fatty acyl-CoA biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75105", "resource": "Reactome", "description": "Fatty acyl-CoA biosynthesis" }, { "id": "R-HSA-9029558", "name": "NR1H2 & NR1H3 regulate gene expression linked to lipogenesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9029558", "resource": "Reactome", "description": "NR1H2 & NR1H3 regulate gene expression linked to lipogenesis" } ], "orthologs": [ { "uniprot_canonical_ac": "D4ABJ9-1", "protein_name": "Stearoyl-coenzyme A desaturase 4", "gene_name": "Scd4", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTALLPREISSKCGTTTIVDSHSWRHQDGEETIPFQSEDIRPEMREDIHDPSYQDEEGPPPKLEYVWRNIIFMALLHVGALYGITLVPSCKVYTWLLGIFYNIVAGLGITAGAHRLWSHRTYKARLPLRLFLIMANTMAFQNDVYEWARDHRAHHKFSETHADPHNSRRGFFFSHVGWLLVRKHPAVKEKGGKLDMSDLKAEKLVMFQRRYYKLAVTLIFITLPTMVPWYFWGETLRHSLCVSTFLRYAVLLNFTWLVNSAAHLYGHQPYDRSIGARENPLVSVASLGEGFHNYHHAFPYDYSVSEYRWHINFTTFFIDCMAALGLAYDRKRVSKAAVLARVKRTGDGSHKSS", "length": 353 }, "evidence": [ { "id": "45918578", "url": "http://www.informatics.jax.org/homology/45918578", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P07308-1", "protein_name": "Acyl-CoA desaturase 1", "gene_name": "Scd1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPAHMLQEISSSYTTTTTITEPPSGNLQNGREKMKKVPLYLEEDIRPEMREDIHDPSYQDEEGPPPKLEYVWRNIILMALLHVGALYGITLIPSSKVYTLLWGIFYYLISALGITAGAHRLWSHRTYKARLPLRIFLIIANTMAFQNDVYEWARDHRAHHKFSETHADPHNSRRGFFFSHVGWLLVRKHPAVKEKGGKLDMSDLKAEKLVMFQRRYYKPGLLLMCFILPTLVPWYCWGETFLHSLFVSTFLRYTLVLNATWLVNSAAHLYGYRPYDKNIQSRENILVSLGAVGEGFHNYHHAFPYDYSASEYRWHINFTTFFIDCMAALGLAYDRKKVSKAAVLARIKRTGDGSHKSS", "length": 358 }, "evidence": [ { "id": "45918579", "url": "http://www.informatics.jax.org/homology/45918579", "database": "MGI" }, { "id": "O00767", "url": "https://omabrowser.org/oma/group/O00767/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P13011-1", "protein_name": "Stearoyl-CoA desaturase 2", "gene_name": "Scd2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPAHILQEISGAYSATTTITAPPSGGQQNGGEKFEKSSHHWGADVRPELKDDLYDPTYQDDEGPPPKLEYVWRNIILMALLHLGALYGITLVPSCKLYTCLFAYLYYVISALGITAGAHRLWSHRTYKARLPLRLFLIIANTMAFQNDVYEWARDHRAHHKFSETHADPHNSRRGFFFSHVGWLLVRKHPAVKEKGGKLDMSDLKAEKLVMFQRRYYKPGLLLMCFVLPTLVPWYCWGETFVNSLCVSTFLRYAVVLNATWLVNSAAHLYGYRPYDKNISSRENILVSMGAVGEGFHNYHHAFPYDYSASEYRWHINFTTFFIDCMALLGLAYDRKRVSRAAVLARIKRTGDGSCKSG", "length": 358 }, "evidence": [ { "id": "45918580", "url": "http://www.informatics.jax.org/homology/45918580", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "P13516-1", "protein_name": "Acyl-CoA desaturase 1", "gene_name": "Scd1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPAHMLQEISSSYTTTTTITAPPSGNEREKVKTVPLHLEEDIRPEMKEDIHDPTYQDEEGPPPKLEYVWRNIILMVLLHLGGLYGIILVPSCKLYTCLFGIFYYMTSALGITAGAHRLWSHRTYKARLPLRIFLIIANTMAFQNDVYEWARDHRAHHKFSETHADPHNSRRGFFFSHVGWLLVRKHPAVKEKGGKLDMSDLKAEKLVMFQRRYYKPGLLLMCFILPTLVPWYCWGETFVNSLFVSTFLRYTLVLNATWLVNSAAHLYGYRPYDKNIQSRENILVSLGAVGEGFHNYHHTFPFDYSASEYRWHINFTTFFIDCMAALGLAYDRKKVSKATVLARIKRTGDGSHKSS", "length": 355 }, "evidence": [ { "id": "45918579", "url": "http://www.informatics.jax.org/homology/45918579", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q6P7B9-1", "protein_name": "Stearoyl-CoA desaturase 2", "gene_name": "Scd2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPAHILQEISGSYSATTTITAPPSGGQQNGGEKFEKNPHHWGADVRPEIKDDLYDPSYQDEEGPPPKLEYVWRNIVLMALLHIGALYGITLVPSCKVYTCLFAYLYYVISALGITAGAHRLWSHRTYKARLPLRLFLIIANTMAFQNDVYEWARDHRAHHKFSETHADPHNSRRGFFFSHVGWLLVRKHPAVKEKGGKLDMSDLKAEKLVMFQRRYYKPGLLLMCFILPTLVPWYCWGETFVNSLCVSTFLRYAVVLNATWLVNSAAHLYGYRPYDKNISSRENILVSMGAVGEGFHNYHHAFPYDYSASEYRWHINFTTFFIDCMALLGLAYDRKRVSKAAVLARIKRTGEESCKSG", "length": 358 }, "evidence": [ { "id": "45918580", "url": "http://www.informatics.jax.org/homology/45918580", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q6T707-1", "protein_name": "Stearoyl-CoA desaturase 4", "gene_name": "Scd4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MTAHLPQEISSRCSTTNIMEPHSRRQQDGEEKMPLQAEDIRPEIKDDLYDPSYQDEEGPPPKLEYVWRNIIFMALLHVGALYGITLVPSCKVYTWLLGVFYNVVAGLGITAGAHRLWSHRTYKARLPLRIFLIMANTMAFQNDVYEWARDHRAHHKFSETHADPHNSRRGFFFSHVGWLLVRKHPAVKEKGKNLDMSDLKAEKLVMFQRRYYKLAVTLMFIILPTLVPWYLWGETFQHSLCVSNFLRYAVLLNFTWLVNSAAHLYGYRPYDRGIGARENPFVSMASLGEGFHNYHHTFPYDYSVSEYRWHINFTTFFIDCMAALGLAYDRKKVSKAVVLARIKRTGDGSHKSS", "length": 353 }, "evidence": [ { "id": "45918578", "url": "http://www.informatics.jax.org/homology/45918578", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q99PL7-1", "protein_name": "Acyl-CoA desaturase 3", "gene_name": "Scd3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPGHLLQEEMTPSYTTTTTITAPPSGSLQNGREKVKTVPLYLEEDIRPEMKEDIYDPTYQDEEGPPPKLEYVWRNIILMALLHVGALYGITLVPSCKLYTCLFAFVYYVISIEGIGAGVHRLWSHRTYKARLPLRIFLIIANTMAFQNDVYEWARDHRAHHKFSETHADPHNSRRGFFFSHVGWLLVRKHPAVKEKGGKLDMSDLKAEKLVMFQRRYYKPGILLMCFILPTLVPWYCWGETFLNSFYVATLLRYAVVLNATWLVNSAAHLYGYRPYDKNIDPRQNALVSLGSMGEGFHNYHHAFPYDYSASEYRWHINFTTFFIDCMAALGLAYDRKRVSKATVLARIKRTGDGSHKSG", "length": 359 }, "evidence": [ { "id": "45918581", "url": "http://www.informatics.jax.org/homology/45918581", "database": "MGI" }, { "id": "O00767", "url": "https://omabrowser.org/oma/group/O00767/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Z4YNJ9-1", "protein_name": "Similar to stearoyl-coenzyme A desaturase 3", "gene_name": "Scd3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPGHLLQEEMTPSYTTTSTITEPPSGVMQKGKEKLKTLPLYLEEDIRPEMREDIHDPSYQDEEGPPPKLEYVWRNIILMALLHVGALYGITLIPSSKVYTLLWAFIYYAISIEGIGAGVHRLWSHRTYKARLPLRIFLIIANTMAFQNDVYEWARDHRAHHKFTETHADPHNSRRGFFFSHVGWLLVRKHPAVKEKGGKLDMSDLKAEKLVMFQRRYYKPGILLLCFILPTLVPWYFWGETFLHSFYVATLLRYAVVLNVTWLVNSAAHLYGYRPYDKNIDPRENALVSLGTLGEGFHNYHHAFPYDYSASEYPWHINFTTFFIDCMAFLGLAYDRKRVSKATVLARIKRTGDGSHKSG", "length": 359 }, "evidence": [ { "id": "45918581", "url": "http://www.informatics.jax.org/homology/45918581", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "iron ion binding", "id": "GO:0005506", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005506", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767" } ], "pmid": "" }, { "name": "stearoyl-CoA 9-desaturase activity", "id": "GO:0004768", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004768", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767" } ], "pmid": "" }, { "name": "oxidoreductase activity", "id": "GO:0016491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016491", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767" } ], "pmid": "" }, { "name": "palmitoyl-CoA 9-desaturase activity", "id": "GO:0032896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032896", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "nucleolus", "id": "GO:0005730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005730", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "unsaturated fatty acid biosynthetic process", "id": "GO:0006636", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006636", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767" } ], "pmid": "" }, { "name": "monounsaturated fatty acid biosynthetic process", "id": "GO:1903966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903966", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767" } ], "pmid": "" }, { "name": "response to fatty acid", "id": "GO:0070542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070542", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767" } ], "pmid": "" }, { "name": "positive regulation of cold-induced thermogenesis", "id": "GO:0120162", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120162", "evidence": [ { "database": "UniProtKB", "id": "O00767", "url": "https://www.uniprot.org/uniprot/O00767" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 259, "end_pos": 261, "annotation": "n_glycosylation_sequon" }, { "start_pos": 279, "end_pos": 281, "annotation": "n_glycosylation_sequon" }, { "start_pos": 318, "end_pos": 320, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "19721", "name": "", "equation": "2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 + octadecanoyl-CoA = (9Z)-octadecenoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P07308-1", "Q6P7B9-1", "O00767-1", "Q86SK9-1", "P13516-1", "P13011-1", "Q6T707-1", "P21147-1" ], "evidence": [ { "id": "19721", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/19721" } ] }, { "id": "36931", "name": "", "equation": "2 Fe(II)-[cytochrome b5] + 2 H(+) + hexadecanoyl-CoA + O2 = (9Z)-hexadecenoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6P7B9-1", "O00767-1", "Q86SK9-1", "Q99PL7-1", "P13011-1", "Q6T707-1", "P21147-1" ], "evidence": [ { "id": "36931", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/36931" } ] }, { "id": "R-HSA-1655849", "name": "Expression of Acyl-CoA Desaturase (Stearoyl CoA Desaturase, SCD)", "equation": "", "summary": "The SCD gene is transcribed to yield mRNA (Li et al. 1994) and the mRNA is translated to yield protein. The SREBP1A (SREBF1A) and SREBP1C (SREBF1C) transcription factors bind the promoter of the SCD gene and activate transcription in response to low cellular cholesterol (Tabor et al. 1999, Bee et al. 2001).", "cellular_location": "endoplasmic reticulum membrane, nucleoplasm", "input_participant_list": [ "R-HSA-6800051" ], "output_participant_list": [ "R-HSA-400117" ], "enzyme_list": [ "O00767-1" ], "evidence": [ { "id": "R-HSA-1655849", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1655849" } ] }, { "id": "R-HSA-5690565", "name": "SCD desaturates ST-CoA to OLE-CoA", "equation": "", "summary": "Acyl-CoA desaturase (SCD), located on the ER membrane, is the terminal enzyme of the liver microsomal stearyl-CoA desaturase system and is the rate-limiting enzyme in the cellular synthesis of monounsaturated fatty acids (MUFAs) from saturated fatty acids. SCD utilises O2 and electrons from reduced ferrocytochrome b5 (Fe(2+)Cb5) to catalyse the insertion of a double bond into a range of fatty acyl-CoA substrates. This example shows stearoyl-CoA (ST-CoA) desaturation to oleoyl-CoA (OLE-CoA) (Li et al. 1994, Zhang et al. 1999). Studies of tagged recombinant enzyme overexpressed in transiently transfected cells suggest that the enzyme forms dimers and higher oligomers (Zhang et al. 2005).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [ "R-ALL-4085415" ], "output_participant_list": [ "R-ALL-4085425", "R-ALL-5690558" ], "enzyme_list": [ "O00767-1" ], "evidence": [ { "id": "R-HSA-5690565", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5690565" } ] }, { "id": "R-HSA-9605060", "name": "Expression of SCD regulated by NR1H2 or NR1H3", "equation": "", "summary": "The stearoyl CoA desaturase (SCD) gene is transcribed to yield mRNA and the mRNA is translated to yield protein. SCD is an endoplasmic reticulum (ER) enzyme that catalyzes the biosynthesis of monounsaturated fatty acids (MUFAs) from saturated fatty acids that are either synthesized de novo or derived from the diet (Bene H et al. 2001; Paton CM & Ntambi JM 2009). Liver X receptors (LXR\u03b1/NR1H3 or LXR\u03b2/NR1H2) are oxysterol receptors that regulate the gene expression of SCD. The evidence for the Reactome event of the induction of SCD gene expression by NR1H3 or NR1H2 comes from the studies with T0901317, the synthetic NR1H2,3 agonist, that has been shown to increase SCD gene expression in mouse liver and human arterial endothelial cells (HAEC) by 10- and 3-fold, respectively (Chu K et al. 2006; Peter A et al. 2008). Treatment with 22(R)-hydroxycholesterol, a natural ligand of NR1H2,3, increased the SCD activity in mouse macrophages J774 and thus supported the ability of NR1H2,3 to regulate SCD (Wang Y et al. 2004). NR1H2,3 has been presumed to regulate SCD protein level through the activation of sterol regulatory element-binding protein (SREBP1) and its consequent binding to SREBP1 binding site (SRE) (Schultz JR et al. 2000; Zhang X et al. 2014). However, studies with SREBP1c -/- mice have suggested that NR1H2,3 upregulate SCD in an SREBP1c-independent manner (Chu K et al. 2006). In HAEC cells, the NR1H2,3 activation increased SCD mRNA and protein expression, which served to protect the cells from saturated fatty acid-induced lipotoxicity, apoptosis and IL-6 and IL-8 expression (Peter A et al. 2008). Analysis of hepatic lipogenic gene expression indicated that nuclear receptor-interacting protein 140 (RIP140 or NRIP1) was required for the ability of NR1H3 to stimulate the expression of the SCD gene in WT and NRIP1 null mice after administration of T0901317 (Herzog B et al. 2007). These findings are supported by the failure of T0901317 to stimulate the expression of SCD gene in cultured human hepatoma HuH7 cells depleted of NRIP1 by siNRIP1 (Herzog B et al. 2007). 2007). Studies performed with T0901317 in wildtype vs. NR1H3-/- (LXR\u03b1-/-) and NR1H2 (LXR\u03b2 -/-) mice suggest that SCD1 is primarily regulated by NR1H3 (Zhang X et al. 2014).", "cellular_location": "endoplasmic reticulum membrane, nucleoplasm", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O00767-1" ], "evidence": [ { "id": "R-HSA-9605060", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9605060" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-4085415", "participant_name": "Fe(2+)Cb5 [cytosol]", "crossref": [ { "id": "16518", "database": "ChEBI", "url": "" }, { "id": "16518", "database": "ChEBI", "url": "" }, { "id": "16518", "database": "ChEBI", "url": "" }, { "id": "16518", "database": "ChEBI", "url": "" }, { "id": "16518", "database": "ChEBI", "url": "" }, { "id": "16518", "database": "ChEBI", "url": "" }, { "id": "16518", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-4085425", "participant_name": "Fe(3+)Cb5 [cytosol]", "crossref": [ { "id": "18097", "database": "ChEBI", "url": "" }, { "id": "C00996", "database": "COMPOUND", "url": "" }, { "id": "18097", "database": "ChEBI", "url": "" }, { "id": "C00996", "database": "COMPOUND", "url": "" }, { "id": "18097", "database": "ChEBI", "url": "" }, { "id": "C00996", "database": "COMPOUND", "url": "" }, { "id": "18097", "database": "ChEBI", "url": "" }, { "id": "C00996", "database": "COMPOUND", "url": "" }, { "id": "18097", "database": "ChEBI", "url": "" }, { "id": "C00996", "database": "COMPOUND", "url": "" }, { "id": "18097", "database": "ChEBI", "url": "" }, { "id": "C00996", "database": "COMPOUND", "url": "" }, { "id": "18097", "database": "ChEBI", "url": "" }, { "id": "C00996", "database": "COMPOUND", "url": "" } ] }, { "participant_id": "R-ALL-5690558", "participant_name": "OLE-CoA [cytosol]", "crossref": [ { "id": "15534", "database": "ChEBI", "url": "" }, { "id": "HMDB0001322", "database": "HMDB Metabolite", "url": "" }, { "id": "2386", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C00510", "database": "COMPOUND", "url": "" }, { "id": "C00510", "database": "COMPOUND", "url": "" }, { "id": "HMDB0001322", "database": "HMDB Metabolite", "url": "" }, { "id": "15534", "database": "ChEBI", "url": "" }, { "id": "2386", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "15534", "database": "ChEBI", "url": "" }, { "id": "HMDB0001322", "database": "HMDB Metabolite", "url": "" }, { "id": "2386", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C00510", "database": "COMPOUND", "url": "" }, { "id": "15534", "database": "ChEBI", "url": "" }, { "id": "HMDB0001322", "database": "HMDB Metabolite", "url": "" }, { "id": "2386", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C00510", "database": "COMPOUND", "url": "" }, { "id": "HMDB0001322", "database": "HMDB Metabolite", "url": "" }, { "id": "C00510", "database": "COMPOUND", "url": "" }, { "id": "2386", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "15534", "database": "ChEBI", "url": "" }, { "id": "15534", "database": "ChEBI", "url": "" }, { "id": "HMDB0001322", "database": "HMDB Metabolite", "url": "" }, { "id": "2386", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C00510", "database": "COMPOUND", "url": "" }, { "id": "15534", "database": "ChEBI", "url": "" }, { "id": "HMDB0001322", "database": "HMDB Metabolite", "url": "" }, { "id": "2386", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C00510", "database": "COMPOUND", "url": "" } ] }, { "participant_id": "R-HSA-400117", "participant_name": "SCD [endoplasmic reticulum membrane]", "crossref": [ { "id": "ENST00000370355", "database": "Ensembl", "url": "" }, { "id": "ENSG00000099194", "database": "OpenTargets", "url": "" }, { "id": "NP_005054.3", "database": "RefSeq", "url": "" }, { "id": "4ZYO", "database": "PDB", "url": "" }, { "id": "ACOD_HUMAN", "database": "ZINC - Predictions - Purchasable", "url": "" }, { "id": "1.14.19.1", "database": "IntEnz", "url": "" }, { "id": "ENSG00000099194", "database": "Ensembl", "url": "" }, { "id": "O00767", "database": "Pharos - Targets", "url": "" }, { "id": "O00767", "database": "UniProt", "url": "" }, { "id": "O00767", "database": "ZINC target", "url": "" }, { "id": "ENSG00000099194-SCD", "database": "HPA", "url": "" }, { "id": "O00767", "database": "GeneCards", "url": "" }, { "id": "ACOD_HUMAN", "database": "ZINC - Investigational", "url": "" }, { "id": "ENSP00000359380", "database": "Ensembl", "url": "" }, { "id": "HMDBP00313", "database": "HMDB Protein", "url": "" }, { "id": "O00767", "database": "PRO", "url": "" }, { "id": "ACOD_HUMAN", "database": "ZINC - Substances", "url": "" } ] }, { "participant_id": "R-HSA-6800051", "participant_name": "SCD gene [nucleoplasm]", "crossref": [ { "id": "ENSG00000099194", "database": "ENSEMBL", "url": "" } ] } ], "reaction_enzymes": [ { 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