{ "uniprot_canonical_ac": "O15228-1", "uniprot_ac": "O15228", "uniprot_id": "GNPAT_HUMAN", "mass": { "chemical_mass": 77188.0, "monoisotopic_mass": 77188.0 }, "refseq": { "ac": "NP_001303279", "name": "dihydroxyacetone phosphate acyltransferase isoform 2", "summary": "This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303279" }, "gene_names": [ { "name": "GNPAT", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15228", "id": "O15228" }, { "name": "DAP-AT; DAPAT; DHAPAT; RCDP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303279", "id": "NP_001303279" }, { "name": "DAPAT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15228", "id": "O15228" }, { "name": "DHAPAT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15228", "id": "O15228" }, { "name": "GNPAT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303279", "id": "NP_001303279" } ], "protein_names": [ { "name": "Dihydroxyacetone phosphate acyltransferase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15228" }, { "name": "2.3.1.42", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15228" }, { "name": "Acyl-CoA:dihydroxyacetonephosphateacyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15228" }, { "name": "DAP-AT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15228" }, { "name": "DAPAT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15228" }, { "name": "DHAP-AT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15228" }, { "name": "Glycerone-phosphate O-acyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15228" }, { "name": "dihydroxyacetone phosphate acyltransferase isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303279", "id": "NP_001303279" }, { "name": "dihydroxyacetone phosphate acyltransferase; glycerone-phosphate O-acyltransferase; acyl-CoA:dihydroxyacetonephosphateacyltransferase; DHAP-AT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303279", "id": "NP_001303279" } ], "function": [ { "annotation": "Dihydroxyacetonephosphate acyltransferase catalyzing the first step in the biosynthesis of plasmalogens, a subset of phospholipids that differ from other glycerolipids by having an alkyl chain attached through a vinyl ether linkage at the sn-1 position of the glycerol backbone, and which unique physical properties have an impact on various aspects of cell signaling and membrane biology.", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228#function" }, { "database": "PubMed", "id": "11152660", "url": "https://glygen.org/publication/PubMed/11152660" }, { "database": "PubMed", "id": "15687349", "url": "https://glygen.org/publication/PubMed/15687349" } ] }, { "annotation": "GNPAT and USP30-mediated stabilization of DRP1 play a critical role in the development of hepatocellular carcinoma", "evidence": [ { "database": "RefSeq", "id": "NP_001303279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303279" }, { "database": "PubMed", "id": "30143522", "url": "https://glygen.org/publication/PubMed/30143522" } ] }, { "annotation": "GNPAT rs11558492 is not a major modifier of iron status and is not associated with liver fibrosis in HFE-related Hemochromatosis patients.", "evidence": [ { "database": "RefSeq", "id": "NP_001303279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303279" }, { "database": "PubMed", "id": "28425416", "url": "https://glygen.org/publication/PubMed/28425416" } ] }, { "annotation": "Genetic adaptation of skin pigmentation in highland Tibetans.", "evidence": [ { "database": "RefSeq", "id": "NP_001303279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303279" }, { "database": "PubMed", "id": "36161951", "url": "https://glygen.org/publication/PubMed/36161951" } ] }, { "annotation": "Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels.", "evidence": [ { "database": "RefSeq", "id": "NP_001303279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303279" }, { "database": "PubMed", "id": "32652459", "url": "https://glygen.org/publication/PubMed/32652459" } ] }, { "annotation": "Stabilization of FASN by ACAT1-mediated GNPAT acetylation promotes lipid metabolism and hepatocarcinogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001303279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303279" }, { "database": "PubMed", "id": "31974474", "url": "https://glygen.org/publication/PubMed/31974474" } ] }, { "annotation": "This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015].", "evidence": [ { "database": "RefSeq", "id": "NP_001303279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303279" } ] } ], "disease": [ { "disease_id": "DOID:0110852", "recommended_name": { "id": "DOID:0110852", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110852", "name": "rhizomelic chondrodysplasia punctata type 2", "description": "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2." }, "synonyms": [ { "id": "DOID:0110852", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110852", "name": "Dihydroxyacetonephosphate Acyltransferase Deficiency", "description": "" }, { "id": "DOID:0110852", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110852", "name": "Dhapat Deficiency", "description": "" }, { "id": "DOID:0110852", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110852", "name": "Glyceronephosphate O-Acyltransferase Deficiency", "description": "" }, { "id": "DOID:0110852", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110852", "name": "Gnpat Deficiency", "description": "" }, { "id": "DOID:0110852", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110852", "name": "Rcdp2", "description": "" }, { "id": "DOID:0110852", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110852", "name": "Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency", "description": "" }, { "id": "DOID:0110852", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110852", "name": "Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency", "description": "" }, { "id": "MONDO:0009112", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009112", "name": "rhizomelic chondrodysplasia punctata type 2", "description": "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene." }, { "id": "MONDO:0009112", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009112", "name": "Dhapat deficiency", "description": "" }, { "id": "MONDO:0009112", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009112", "name": "Dihydroxyacetonephosphate acyltransferase deficiency", "description": "" }, { "id": "MONDO:0009112", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009112", "name": "GNPAT rhizomelic chondrodysplasia punctata", "description": "" }, { "id": "MONDO:0009112", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009112", "name": "Glyceronephosphate O-acyltransferase deficiency", "description": "" }, { "id": "MONDO:0009112", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009112", "name": "Gnpat deficiency", "description": "" }, { "id": "MONDO:0009112", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009112", "name": "Rcdp2", "description": "" }, { "id": "MONDO:0009112", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009112", "name": "chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency", "description": "" }, { "id": "MONDO:0009112", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009112", "name": "peroxisomal dihydroxyacetonephosphate acyltransferase deficiency", "description": "" }, { "id": "MONDO:0009112", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009112", "name": "rhizomelic chondrodysplasia punctata caused by mutation in GNPAT", "description": "" }, { "id": "MONDO:0009112", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009112", "name": "rhizomelic chondrodysplasia punctata type 2", "description": "" }, { "id": "MONDO:0009112", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009112", "name": "rhizomelic chondrodysplasia punctata, type 2", "description": "" }, { "id": "MONDO:0009112", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009112", "name": "type 2 rhizomelic chondrodysplasia punctata", "description": "" }, { "id": "MONDO:0009112", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009112", "name": "RCDP2", "description": "" }, { "id": "MONDO:0009112", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009112", "name": "chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate", "description": "" }, { "id": "MIM:222765", "resource": "MIM", "url": "https://www.omim.org/entry/222765", "name": "Rhizomelic chondrodysplasia punctata 2", "description": "Rhizomelic chondrodysplasia punctata 2" } ], "evidence": [ { "id": "222765", "database": "MIM", "url": "https://www.omim.org/entry/222765" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "92.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116906", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116906" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "89.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116906", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116906" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "90.18", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116906", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116906" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "85.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116906", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116906" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116906", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116906" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116906", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116906" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "89.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116906", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116906" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "93.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116906", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116906" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116906", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116906" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "85.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000116906", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116906" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "90.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116906", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116906" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "93.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116906", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116906" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000116906", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000116906" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15228", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15228" } ], "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 - 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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", 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"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", 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"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": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O15228", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15228" } ], "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": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O15228", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15228" } ], "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": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O15228", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15228" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O15228", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15228" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O15228", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15228" } ], "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": [ { "database": "BioXpress", "id": "O15228", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15228" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O15228", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15228" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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"https://www.nextprot.org/entry/NX_O15228", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O15228", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15228", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "RFNLEWY", "url": "https://omabrowser.org/oma/group/RFNLEWY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5478811at2759", "url": "http://www.orthodb.org/?query=5478811at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12563", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12563", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12563:SF17", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12563:SF17", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01553", "url": "http://pfam.xfam.org/family/PF01553", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF19277", "url": "http://pfam.xfam.org/family/PF19277", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15228", "url": "https://pharos.nih.gov/targets/O15228", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15228", "url": "http://purl.obolibrary.org/obo/PR_O15228", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-75896", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75896", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001303279", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001303279", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "17657", "url": "https://www.rhea-db.org/rhea/17657", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "40715", "url": "https://www.rhea-db.org/rhea/40715", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A2R8YH69", "url": "https://www.uniprot.org/uniprot/A0A2R8YH69", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YH69-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YH69-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15228-1", "url": "https://www.uniprot.org/uniprot/O15228-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15228-2", "url": "https://www.uniprot.org/uniprot/O15228-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TBH6", "url": "https://www.uniprot.org/uniprot/Q5TBH6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TBH6-1", "url": "https://www.uniprot.org/uniprot/Q5TBH6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TBH8", "url": "https://www.uniprot.org/uniprot/Q5TBH8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5TBH8-1", "url": "https://www.uniprot.org/uniprot/Q5TBH8-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MESSSSSNSYFSVGPTSPSAVVLLYSKELKKWDEFEDILEERRHVSDLKFAMKCYTPLVYKGITPCKPIDIKCSVLNSEEIHYVIKQLSKESLQSVDVLREEVSEILDEMSHKLRLGAIRFCAFTLSKVFKQIFSKVCVNEEGIQKLQRAIQEHPVVLLPSHRSYIDFLMLSFLLYNYDLPVPVIAAGMDFLGMKMVGELLRMSGAFFMRRTFGGNKLYWAVFSEYVKTMLRNGYAPVEFFLEGTRSRSAKTLTPKFGLLNIVMEPFFKREVFDTYLVPISISYDKILEETLYVYELLGVPKPKESTTGLLKARKILSENFGSIHVYFGDPVSLRSLAAGRMSRSSYNLVPRYIPQKQSEDMHAFVTEVAYKMELLQIENMVLSPWTLIVAVLLQNRPSMDFDALVEKTLWLKGLTQAFGGFLIWPDNKPAEEVVPASILLHSNIASLVKDQVILKVDSGDSEVVDGLMLQHITLLMCSAYRNQLLNIFVRPSLVAVALQMTPGFRKEDVYSCFRFLRDVFADEFIFLPGNTLKDFEEGCYLLCKSEAIQVTTKDILVTEKGNTVLEFLVGLFKPFVESYQIICKYLLSEEEDHFSEEQYLAAVRKFTSQLLDQGTSQCYDVLSSDVQKNALAACVRLGVVEKKKINNNCIFNVNEPATTKLEEMLGCKTPIGKPATAKL", "length": 680, "header": "sp|O15228-1|GNPAT_HUMAN Isoform 1 of Dihydroxyacetone phosphate acyltransferase OS=Homo sapiens OX=9606 GN=GNPAT PE=1 SV=1 CANONICAL=O15228-1" }, "isoforms": [ { "isoform_ac": "A0A2R8YH69-1", "url": "", "sequence": { "sequence": "MESSSSSNSYFSVGPTSPSAVVLLYSKELKKWDEFEDILEERRHVSDLKFAMKCYTPLVYKGITPCKPIDIKCSVLNSEEIHYVIKQTDQEKKQPGICQLTFSVPITRCLAAPGRVAFQGIPSICGCPPRGSE", "length": 133, "header": "tr|A0A2R8YH69-1|A0A2R8YH69_HUMAN Computationally mapped isoform of Glyceronephosphate O-acyltransferase OS=Homo sapiens OX=9606 GN=GNPAT PE=1 SV=1 CANONICAL=O15228-1" }, "locus": { "chromosome": "1", "start_pos": 231260556, "end_pos": 231241379, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644483.1", "url": "https://www.ensembl.org/id/ENST00000644483.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496537.1", "url": "https://www.ensembl.org/id/ENSP00000496537.1" } ] } }, { "isoform_ac": "O15228-1", "url": "", "sequence": { "sequence": "MESSSSSNSYFSVGPTSPSAVVLLYSKELKKWDEFEDILEERRHVSDLKFAMKCYTPLVYKGITPCKPIDIKCSVLNSEEIHYVIKQLSKESLQSVDVLREEVSEILDEMSHKLRLGAIRFCAFTLSKVFKQIFSKVCVNEEGIQKLQRAIQEHPVVLLPSHRSYIDFLMLSFLLYNYDLPVPVIAAGMDFLGMKMVGELLRMSGAFFMRRTFGGNKLYWAVFSEYVKTMLRNGYAPVEFFLEGTRSRSAKTLTPKFGLLNIVMEPFFKREVFDTYLVPISISYDKILEETLYVYELLGVPKPKESTTGLLKARKILSENFGSIHVYFGDPVSLRSLAAGRMSRSSYNLVPRYIPQKQSEDMHAFVTEVAYKMELLQIENMVLSPWTLIVAVLLQNRPSMDFDALVEKTLWLKGLTQAFGGFLIWPDNKPAEEVVPASILLHSNIASLVKDQVILKVDSGDSEVVDGLMLQHITLLMCSAYRNQLLNIFVRPSLVAVALQMTPGFRKEDVYSCFRFLRDVFADEFIFLPGNTLKDFEEGCYLLCKSEAIQVTTKDILVTEKGNTVLEFLVGLFKPFVESYQIICKYLLSEEEDHFSEEQYLAAVRKFTSQLLDQGTSQCYDVLSSDVQKNALAACVRLGVVEKKKINNNCIFNVNEPATTKLEEMLGCKTPIGKPATAKL", "length": 680, "header": "sp|O15228-1|GNPAT_HUMAN Isoform 1 of Dihydroxyacetone phosphate acyltransferase OS=Homo sapiens OX=9606 GN=GNPAT PE=1 SV=1 CANONICAL=O15228-1" }, "locus": { "chromosome": "1", "start_pos": 231277539, "end_pos": 231241379, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000366647.9", "url": "https://www.ensembl.org/id/ENST00000366647.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000355607.4", "url": "https://www.ensembl.org/id/ENSP00000355607.4" } ] } }, { "isoform_ac": "O15228-2", "url": "", "sequence": { "sequence": "MESSSSSNSYFSVGPTSPSAVVLLYSLSKESLQSVDVLREEVSEILDEMSHKLRLGAIRFCAFTLSKVFKQIFSKVCVNEEGIQKLQRAIQEHPVVLLPSHRSYIDFLMLSFLLYNYDLPVPVIAAGMDFLGMKMVGELLRMSGAFFMRRTFGGNKLYWAVFSEYVKTMLRNGYAPVEFFLEGTRSRSAKTLTPKFGLLNIVMEPFFKREVFDTYLVPISISYDKILEETLYVYELLGVPKPKESTTGLLKARKILSENFGSIHVYFGDPVSLRSLAAGRMSRSSYNLVPRYIPQKQSEDMHAFVTEVAYKMELLQIENMVLSPWTLIVAVLLQNRPSMDFDALVEKTLWLKGLTQAFGGFLIWPDNKPAEEVVPASILLHSNIASLVKDQVILKVDSGDSEVVDGLMLQHITLLMCSAYRNQLLNIFVRPSLVAVALQMTPGFRKEDVYSCFRFLRDVFADEFIFLPGNTLKDFEEGCYLLCKSEAIQVTTKDILVTEKGNTVLEFLVGLFKPFVESYQIICKYLLSEEEDHFSEEQYLAAVRKFTSQLLDQGTSQCYDVLSSDVQKNALAACVRLGVVEKKKINNNCIFNVNEPATTKLEEMLGCKTPIGKPATAKL", "length": 619, "header": "sp|O15228-2|GNPAT_HUMAN Isoform 2 of Dihydroxyacetone phosphate acyltransferase OS=Homo sapiens OX=9606 GN=GNPAT PE=1 SV=1 CANONICAL=O15228-1" }, "locus": {} }, { "isoform_ac": "Q5TBH6-1", "url": "", "sequence": { "sequence": "MESSSSSNSYFSVGPTSPSAVVLLYSLSKESLQSVDVLREEVSEILDEMSHKLRLGAIRFCAFTLSKVFKQIFSKVCVNEEGIQKLQRAIQEHPVVLLPSHRSYIDFLMLSFLLYNYDLPVPVIAAGMDFLGMKMVGELLRMSGAFFMRRTFGGNKLYWAVFSEYVKTMLRNGYAPVEFFLEGTRSRSAKTLTPKFGLLNIVMEPFFKREVFDTYLVPISIS", "length": 222, "header": "tr|Q5TBH6-1|Q5TBH6_HUMAN Computationally mapped isoform of Glyceronephosphate O-acyltransferase OS=Homo sapiens OX=9606 GN=GNPAT PE=1 SV=1 CANONICAL=O15228-1" }, "locus": { "chromosome": "1", "start_pos": 231266090, "end_pos": 231241379, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000436239.5", "url": "https://www.ensembl.org/id/ENST00000436239.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000402811.1", "url": "https://www.ensembl.org/id/ENSP00000402811.1" } ] } }, { "isoform_ac": "Q5TBH8-1", "url": "", "sequence": { "sequence": "MESSSSSNSYFSVGPTSPSAVVLLYSKELKKWDEFEDILEERRHVSDLKFAMKCYTPLVYKGITPCKPIDIKCSVLNSEEIHYVIKQLSKESLQSVDVLREEVSEILDEMSHKLRLGAIRFCAFTLSKVFKQIFSKLQRAIQEHPVVLLPSHRSYIDFLMLSFLLYNYDLPVPVIAAGMDFLGMKMVGELLRMSGAFFMRRTFGGNKLYWAVFSEYVKTMLRNGYAPVEFFLEGTRSRSAKTLTPKFGLLNIVMEPFFKREVFDTYLVPISISYDKILEETLYVYELLGVPKPKESTTGLLKARKILSENFGSIHVYFGDPVSLRSLAAGRMSRSSYNLVPRYIPQKQSEDMHAFVTEVAYKMELLQIENMVLSPWTLIVAVLLQNRPSMDFDALVEKTLWLKGLTQAFGGFLIWPDNKPAEEVVPASILLHSNIASLVKDQVILKVDSGDSEVVDGLMLQHITLLMCSAYRNQLLNIFVRPSLVAVALQMTPGFRKEDVYSCFRFLRDVFADEFIFLPGNTLKDFEEGCYLLCKSEAIQVTTKDILVTEKGNTVLEFLVGLFKPFVESYQIICKYLLSEEEDHFSE", "length": 587, "header": "tr|Q5TBH8-1|Q5TBH8_HUMAN Computationally mapped isoform of Glyceronephosphate O-acyltransferase OS=Homo sapiens OX=9606 GN=GNPAT PE=1 SV=1 CANONICAL=O15228-1" }, "locus": { "chromosome": "1", "start_pos": 231275268, "end_pos": 231241379, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000416000.1", "url": "https://www.ensembl.org/id/ENST00000416000.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000411640.1", "url": "https://www.ensembl.org/id/ENSP00000411640.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O15228", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15228" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" } ] } ], "phosphorylation": [ { "start_pos": 12, "end_pos": 12, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "site_lbl": "Ser12" }, { "start_pos": 17, "end_pos": 17, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "site_lbl": "Ser17" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Identification and characterization of the human orthologue of yeast Pex14p.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Will GK, Soukupova M, Hong X, Erdmann KS, Kiel JA, Dodt G, Kunau WH, Erdmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "10022913", "url": "https://glygen.org/publication/PubMed/10022913" } ] }, { "title": "Alkyl-dihydroxyacetone phosphate synthase and dihydroxyacetone phosphate acyltransferase form a protein complex in peroxisomes.", "journal": "European journal of biochemistry", "date": "1999", "authors": "Biermann J, Just WW, Wanders RJ, Van Den Bosch H", "evidence": [ { "database": "Reactome", "id": "R-HSA-75896", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75896" } ], "reference": [ { "type": "PubMed", "id": "10215861", "url": "https://glygen.org/publication/PubMed/10215861" } ] }, { "title": "Identification and characterization of the mouse cDNA encoding acyl-CoA:dihydroxyacetone phosphate acyltransferase.", "journal": "Biochim. Biophys. Acta", "date": "1999", "authors": "Ofman R, Hogenhout EM, Wanders RJ", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "reference": [ { "type": "PubMed", "id": "10395968", "url": "https://glygen.org/publication/PubMed/10395968" } ] }, { "title": "In vitro processing of the human alkyl-dihydroxyacetonephosphate synthase precursor.", "journal": "Archives of biochemistry and biophysics", "date": "1999", "authors": "Biermann J, van den Bosch H", "evidence": [ { "database": "Reactome", "id": "R-HSA-75896", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75896" } ], "reference": [ { "type": "PubMed", "id": "10415121", "url": "https://glygen.org/publication/PubMed/10415121" } ] }, { "title": "Cloning and characterization of novel mouse and human secretory phospholipase A(2)s.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Ishizaki J, Suzuki N, Higashino K, Yokota Y, Ono T, Kawamoto K, Fujii N, Arita H, Hanasaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "10455175", "url": "https://glygen.org/publication/PubMed/10455175" } ] }, { "title": "Isolation of a cDNA encoding human lysophosphatidic acid phosphatase that is involved in the regulation of mitochondrial lipid biosynthesis.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Hiroyama M, Takenawa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "10506173", "url": "https://glygen.org/publication/PubMed/10506173" } ] }, { "title": "Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.", "journal": "Journal of lipid research", "date": "1999", "authors": "de Vet EC, Ijlst L, Oostheim W, Dekker C, Moser HW, van Den Bosch H, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "10553003", "url": "https://glygen.org/publication/PubMed/10553003" } ] }, { "title": "PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Chang CC, Warren DS, Sacksteder KA, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "10562279", "url": "https://glygen.org/publication/PubMed/10562279" } ] }, { "title": "PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter.", "journal": "Genomics", "date": "2000", "authors": "Braverman N, Steel G, Lin P, Moser A, Moser H, Valle D", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "10673331", "url": "https://glygen.org/publication/PubMed/10673331" } ] }, { "title": "Structures, enzymatic properties, and expression of novel human and mouse secretory phospholipase A(2)s.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Suzuki N, Ishizaki J, Yokota Y, Higashino K, Ono T, Ikeda M, Fujii N, Kawamoto K, Hanasaki K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "10681567", "url": "https://glygen.org/publication/PubMed/10681567" } ] }, { "title": "Alkyl-dihydroxyacetonephosphate synthase. Presence and role of flavin adenine dinucleotide.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "de Vet EC, Hilkes YH, Fraaije MW, van den Bosch H", "evidence": [ { "database": "Reactome", "id": "R-HSA-75896", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75896" } ], "reference": [ { "type": "PubMed", "id": "10692424", "url": "https://glygen.org/publication/PubMed/10692424" } ] }, { "title": "Cloning and recombinant expression of a structurally novel human secreted phospholipase A2.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Gelb MH, Valentin E, Ghomashchi F, Lazdunski M, Lambeau G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "11031251", "url": "https://glygen.org/publication/PubMed/11031251" } ] }, { "title": "Peroxisomal targeting signal-1 recognition by the TPR domains of human PEX5.", "journal": "Nature structural biology", "date": "2000", "authors": "Gatto GJ Jr, Geisbrecht BV, Gould SJ, Berg JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "11101887", "url": "https://glygen.org/publication/PubMed/11101887" } ] }, { "title": "Cloning and recombinant expression of human group IIF-secreted phospholipase A(2).", "journal": "Biochemical and biophysical research communications", "date": "2000", "authors": "Valentin E, Singer AG, Ghomashchi F, Lazdunski M, Gelb MH, Lambeau G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1483166", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483166" } ], "reference": [ { "type": "PubMed", "id": "11112443", "url": "https://glygen.org/publication/PubMed/11112443" } ] }, { "title": "Impaired membrane traffic in defective ether lipid biosynthesis.", "journal": "Human molecular genetics", "date": "2001", "authors": "Thai TP, Rodemer C, Jauch A, Hunziker A, Moser A, Gorgas K, Just WW", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "reference": [ { "type": "PubMed", "id": "11152660", "url": "https://glygen.org/publication/PubMed/11152660" } ] }, { "title": "Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human GNPAT gene and its use in the identification of novel mutations.", "journal": "Biochem. Biophys. Res. 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"https://omabrowser.org/oma/group/O15228/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "glycerone-phosphate O-acyltransferase activity", "id": "GO:0016287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016287", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "O-acyltransferase activity", "id": "GO:0008374", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008374", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "glycerol-3-phosphate O-acyltransferase activity", "id": "GO:0004366", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004366", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "mitochondrial membrane", "id": "GO:0031966", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031966", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 14, "go_terms": [ { "name": "ether lipid biosynthetic process", "id": "GO:0008611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008611", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "cellular lipid metabolic process", "id": "GO:0044255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044255", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "fatty acid metabolic process", "id": "GO:0006631", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006631", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "phosphatidic acid biosynthetic process", "id": "GO:0006654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006654", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "response to nutrient", "id": "GO:0007584", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007584", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "response to starvation", "id": "GO:0042594", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042594", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "membrane organization", "id": "GO:0061024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061024", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "synapse assembly", "id": "GO:0007416", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007416", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "cerebellum morphogenesis", "id": "GO:0021587", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021587", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "response to xenobiotic stimulus", "id": "GO:0009410", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009410", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "triglyceride biosynthetic process", "id": "GO:0019432", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019432", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "paranodal junction assembly", "id": "GO:0030913", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030913", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "response to fatty acid", "id": "GO:0070542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070542", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" }, { "name": "phospholipid biosynthetic process", "id": "GO:0008654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008654", "evidence": [ { "database": "UniProtKB", "id": "O15228", "url": "https://www.uniprot.org/uniprot/O15228" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "17657", "name": "", "equation": "an acyl-CoA + dihydroxyacetone phosphate = a 1-acylglycerone 3-phosphate + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9ES71-1", "O15228-1", "P98192-1", "P32784-1", "P36148-1" ], "evidence": [ { "id": "17657", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/17657" } ] }, { "id": "40715", "name": "", "equation": "dihydroxyacetone phosphate + hexadecanoyl-CoA = 1-hexadecanoylglycerone 3-phosphate + CoA", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9ES71-1", "O15228-1", "P98192-1" ], "evidence": [ { "id": "40715", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/40715" } ] }, { "id": "R-HSA-1483002", "name": "DHAP is converted to 1-acyl GO3P by GNPAT", "equation": "", "summary": "Dihydroxyacetone phosphate (DHAP) is converted to 1-acyl glycerone 3-phosphate (GO3P) by the enzyme dihydroxyacetone phosphate acyltransferase (GNPAT) (de Vet et al. 1999, Ofman et al. 1994). This reaction step links Glycerolipid metabolism to Ether lipid metabolism.", "cellular_location": "cytosol, peroxisomal membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-75973" ], "enzyme_list": [ "O15228-1" ], "evidence": [ { "id": "R-HSA-1483002", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1483002" } ] }, { "id": "R-HSA-390427", "name": "1-palmitoylglycerone phosphate + hexadecanol => O-hexadecylglycerone phosphate + palmitate", "equation": "", "summary": "Peroxisomal alkylglycerone phosphate synthase (AGPS) catalyzes the reaction of 1-palmitoylglycerone phosphate and hexadecanol to form O-hexadecylglycerone phosphate and palmitate. The active form of the enzyme is post-translationally cleaved to remove its 58 aminoterminal residues, has a molecule of FAD as a cofactor, and occurs in the peroxisome as a complex with glyceronephosphate O-acyltransferase (GNPAT) (Biermann et al. 1999; Bierman and van den Bosch 1999; de Vet et al. 2000).", "cellular_location": "peroxisomal matrix", "input_participant_list": [ "R-ALL-390440" ], "output_participant_list": [ "R-ALL-390409", "R-ALL-390435" ], "enzyme_list": [ "O15228-1", "O00116-1" ], "evidence": [ { "id": "R-HSA-390427", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390427" } ] }, { "id": "R-HSA-75879", "name": "palmitoyl-CoA + DHAP => 1-palmitoylglycerone phosphate + CoASH", "equation": "", "summary": "Peroxisomal glyceronephosphate O-acyltransferase (GNPAT) catalyzes the reaction of palmitoyl-CoA and DHAP to form 1-palmitoyl glycerone phosphate (1-palmitoyl dihydroxyacetone phosphate) and CoASH. The active form of the enzyme is one subunit of a heterotrimer with two molecules of the alkylglycerone phosphate synthase (AGPS) enzyme (Biermann et al. 1999). It was first purified and characterized biochemically by Ofman and Wanders (1994). Mutations in the GNPAT gene are associated with rhizomelic chondrodysplasia type 2 (Ofman et al. 1998, 2001).", "cellular_location": "peroxisomal matrix", "input_participant_list": [ "R-ALL-390404", "R-ALL-390426" ], "output_participant_list": [ "R-ALL-390419" ], "enzyme_list": [ "O15228-1", "O00116-1" ], "evidence": [ { "id": "R-HSA-75879", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75879" } ] }, { "id": "R-HSA-9033233", "name": "PEX5S,L binds cargo proteins containing PTS1", "equation": "", "summary": "It is unclear how the long isoform of PEX5 (PEX5L) and the short isoform of PEX5 (PEX5S) are generated. A current hypothesis suggests alternative mRNA splicing. Both isoforms can bind the peroxisome targeting signal 1 (PTS1) located at the C-terminus of most of the proteins that are targeted to the peroxisomal matrix (Dodt et al. 1995, Fransen et al. 1995, Wiemer et al. 1995, Gatto et al. 2000, Brocard et al. 2003, Gatto et al. 2003, Harper et al. 2003, Ghosh and Berg 2010, Freitas et al. 2011, Okumoto et al. 2011). PTS1 typically contains Ser-Lys-Leu (SKL) at the C-terminus but substantial variation in sequences and affinities for PEX5 are observed and upstream residues can modulate binding to PEX5 (Lametschwandtner et al. 1998, Ghosh and Berg 2010, reviewed in Brocard and Hartig 2006).
A minority of peroxisomal matrix proteins contain PTS2. While the PEX5S isoform binds proteins containing PTS1, the PEX5L isoform binds either proteins containing PTS1 or PEX7 bound to proteins containing PTS2 (Braverman et al. 1998). Some proteins appear to be imported as oligomers, however this is rather inefficient as PEX5 appears to have a preference for monomeric substrates (Otera and Fujiki 2012, Freitas et al. 2011, Freitas et al. 2015, also inferred from mouse homologs). Mutations in PEX5 cause defects in peroxisomal import and comprise complementation group 2 of peroxisomal biogenesis disorders (also called Zellweger spectrum disorders) (Dodt et al. 1995, Wiemer et al. 1995). A specific mutation affecting only the PEX5L isoform is the cause of rhizomelic chondrodysplasia punctate type 5 (Bar\u00f8y et al. 2015).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22307-1", "P35914-1", "A8MXV4-1", "Q9NUI1-1", "Q9BTZ2-1", "Q9P0Z9-1", "O15228-1", "Q99489-1", "O14734-1", "P49753-1", "Q8N9L9-1", "P14920-1", "O15254-1", "Q99424-1", "Q15067-1", "Q9UHK6-1", "P04040-1", "P35228-1", "Q9UJM8-1", "Q9UKG9-1", "Q6QHF9-2", "P21549-1", "Q9BY49-1", "Q13011-1", "Q86WA8-1", "P43155-1", "O14975-1", "Q14032-1", "Q9Y2Q3-1", "P14735-1", "P0C024-1", "O75874-1", "Q9NYQ3-1", "Q9UJ83-1", "Q2T9J0-1" ], "evidence": [ { "id": "R-HSA-9033233", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033233" } ] }, { "id": "R-HSA-9033235", "name": "Cargo of PEX5S,L translocates from the cytosol to the peroxisomal matrix", "equation": "", "summary": "After binding the Docking and Translocation Module comprising PEX14, PEX13, PEX2, PEX10 and PEX12 , PEX5S or PEX5L bound to a cargo protein becomes localized to the membrane (Dodt et al. 1995, Wiemer et al. 1995, Alencastre et al. 2009, Francisco et al. 2013, Dias et al. 2017). In a reaction that is not yet fully characterized, the cargo protein is released into the peroxisomal matrix while PEX5S or PEX5L remains in the membrane (Dodt et al. 1995, Wiemer et al. 1995, Alencastre et al. 2009, Franscisco et al. 2013). One model for the reaction hypothesizes that PEX13:PEX14 (associated with PEX2:PEX10:PEX12) forms a barrel in the peroxisomal membrane while PEX5S or PEX5L acts as a plunger to guide the cargo through the barrel (Dias et al. 2017, Francisco et al. 2017). Notably, the reaction does not require a source of energy such as ATP (Oliveira et al. 2003). Mutations in PEX5 cause defects in import of PTS1-containing proteins or PTS2-containing proteins or both (Eberrink et al. 2009, Bar\u00f8y et al. 2015).", "cellular_location": "peroxisomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22307-1", "P35914-1", "A8MXV4-1", "P28328-1", "Q9NUI1-1", "Q9BTZ2-1", "Q9P0Z9-1", "O15228-1", "Q99489-1", "O14734-1", "P49753-1", "Q8N9L9-1", "P14920-1", "O15254-1", "Q99424-1", "Q15067-1", "Q9UHK6-1", "P04040-1", "P35228-1", "Q9UJM8-1", "Q9UKG9-1", "Q6QHF9-2", "P21549-1", "O60683-1", "Q9BY49-1", "Q13011-1", "Q86WA8-1", "P43155-1", "O14975-1", "Q14032-1", "Q9Y2Q3-1", "P14735-1", "P0C024-1", "O75874-1", "Q9NYQ3-1", "Q9UJ83-1", "Q2T9J0-1" ], "evidence": [ { "id": "R-HSA-9033235", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033235" } ] }, { "id": "R-HSA-9033236", "name": "PEX5S,L:Cargo binds PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Module)", "equation": "", "summary": "PEX5S or PEX5L bound to cargo proteins containing PTS1 interacts with the Docking and Translocation Module (PEX13:PEX14:PEX2:PEX10:PEX12) (Gould et al. 1996, Fransen et al. 1998, Will et al. 1999, Neufeld et al. 2009, Shiozawa et al. 2009, Freitas et al. 2011, Francisco et al. 2013, Neufeld et al. 2014, Dias et al. 2017).", "cellular_location": "peroxisomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22307-1", "P35914-1", "A8MXV4-1", "P28328-1", "Q9NUI1-1", "Q9BTZ2-1", "Q9P0Z9-1", "O15228-1", "Q99489-1", "O14734-1", "P49753-1", "Q8N9L9-1", "P14920-1", "O15254-1", "Q99424-1", "Q15067-1", "Q9UHK6-1", "P04040-1", "P35228-1", "Q9UJM8-1", "Q9UKG9-1", "Q6QHF9-2", "P21549-1", "O60683-1", "Q9BY49-1", "Q13011-1", "Q86WA8-1", "P43155-1", "O14975-1", "Q14032-1", "Q9Y2Q3-1", "P14735-1", "P0C024-1", "O75874-1", "Q9NYQ3-1", "Q9UJ83-1", "Q2T9J0-1" ], "evidence": [ { "id": "R-HSA-9033236", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033236" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-390404", "participant_name": "DHAP [peroxisomal matrix]", "crossref": [ { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" }, { "id": "57642", "database": "ChEBI", "url": "" }, { "id": "000024492326", "database": "ZINC", "url": "" }, { "id": "C00111", "database": "COMPOUND", "url": "" } ] }, { "participant_id": "R-ALL-390409", "participant_name": "GO3P [peroxisomal matrix]", "crossref": [ { "id": "C03372", "database": "COMPOUND", "url": "" }, { "id": "73315", "database": "ChEBI", "url": "" }, { "id": "73315", "database": "ChEBI", "url": "" }, { "id": "C03372", "database": "COMPOUND", "url": "" }, { "id": "73315", "database": "ChEBI", "url": "" }, { "id": "C03372", "database": "COMPOUND", "url": "" }, { "id": "C03372", "database": "COMPOUND", "url": "" }, { "id": "73315", "database": "ChEBI", "url": "" }, { "id": "C03372", "database": "COMPOUND", "url": "" }, { "id": "73315", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-390419", "participant_name": "1-Palmitoyl dihydroxyacetone phosphate [peroxisomal matrix]", "crossref": [ { "id": "58303", "database": "ChEBI", "url": "" }, { "id": "000008216956", "database": "ZINC", "url": "" }, { "id": "58303", "database": "ChEBI", "url": "" }, { "id": "000008216956", "database": "ZINC", "url": "" }, { "id": "58303", "database": "ChEBI", "url": "" }, { "id": "000008216956", "database": "ZINC", "url": "" }, { "id": "58303", "database": "ChEBI", "url": "" }, { "id": "000008216956", "database": "ZINC", "url": "" }, { "id": "58303", "database": "ChEBI", "url": "" }, { "id": "000008216956", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-ALL-390426", "participant_name": "PalmCoA [peroxisomal matrix]", "crossref": [ { "id": "C00154", "database": "COMPOUND", "url": "" }, { "id": "57379", "database": "ChEBI", "url": "" }, { "id": "C00154", "database": "COMPOUND", "url": "" }, { "id": "57379", "database": "ChEBI", "url": "" }, { "id": "C00154", "database": "COMPOUND", "url": "" }, { "id": "57379", "database": "ChEBI", "url": "" }, { "id": "57379", "database": "ChEBI", "url": "" }, { "id": "C00154", "database": "COMPOUND", "url": "" }, { "id": "C00154", "database": "COMPOUND", "url": "" }, { "id": "57379", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-390435", 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"activity": "(3S)-hydroxy-3-methylglutaryl-CoA + H2O = 3-hydroxy-3-methylglutarate + CoA + H(+).", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.1", "activity": "acetyl-CoA + H2O = acetate + CoA + H(+).", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.11", "activity": "acetoacetyl-CoA + H2O = acetoacetate + CoA + H(+).", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.3", "activity": "H2O + succinyl-CoA = CoA + H(+) + succinate.", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.5", "activity": "(3S)-hydroxy-3-methylglutaryl-CoA + H2O = 3-hydroxy-3-methylglutarate + CoA + H(+).", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": 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"activity": "", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.7", "activity": "(25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oate + ATP + CoA = (25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.24", "activity": "3,7,11,15-tetramethylhexadecanoate + ATP + CoA = AMP + diphosphate + phytanoyl-CoA.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.15", "activity": "(5Z,8Z,11Z,14Z)-eicosatetraenoate + ATP + CoA = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.3", "activity": "", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] } ] }, { "uniprot_ac": "O15228", "gene_name": "GNPAT", "activity": [ { "ec_number": "2.3.1.42", "activity": "an acyl-CoA + dihydroxyacetone phosphate = a 1-acylglycerone 3-phosphate + CoA.", "evidence": [ { "id": "O15228", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15228" } ] }, { "ec_number": "2.3.1.42", "activity": "", "evidence": [ { "id": "O15228", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15228" } ] } ] }, { "uniprot_ac": "O15254", "gene_name": "ACOX3", "activity": [ { "ec_number": "1.3.3.6", "activity": "a 2,3-saturated acyl-CoA + O2 = a (2E)-enoyl-CoA + H2O2.", "evidence": [ { "id": "O15254", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15254" } ] }, { "ec_number": "1.3.3.6", "activity": "", "evidence": [ { "id": "O15254", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15254" } ] } ] }, { "uniprot_ac": 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No action on proteins.", "evidence": [ { "id": "P14735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14735" } ] }, { "ec_number": "3.4.24.56", "activity": "", "evidence": [ { "id": "P14735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14735" } ] } ] }, { "uniprot_ac": "P14920", "gene_name": "DAO", "activity": [ { "ec_number": "1.4.3.3", "activity": "a D-alpha-amino acid + H2O + O2 = a 2-oxocarboxylate + H2O2 + NH4(+).", "evidence": [ { "id": "P14920", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14920" } ] }, { "ec_number": "1.4.3.3", "activity": "", "evidence": [ { "id": "P14920", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14920" } ] } ] }, { "uniprot_ac": "P21549", "gene_name": "AGXT", "activity": [ { "ec_number": "2.6.1.51", "activity": "L-serine + pyruvate = 3-hydroxypyruvate + L-alanine.", "evidence": [ { "id": "P21549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21549" } ] }, { "ec_number": "2.6.1.44", "activity": "2-oxobutanoate + L-alanine = (2S)-2-aminobutanoate + pyruvate.", "evidence": [ { "id": "P21549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21549" } ] }, { "ec_number": "2.6.1.44", "activity": "", "evidence": [ { "id": "P21549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21549" } ] } ] }, { "uniprot_ac": "P22307", "gene_name": "SCP2", "activity": [ { "ec_number": "2.3.1.176", "activity": "4,8,12-trimethyltridecanoyl-CoA + propanoyl-CoA = 3-oxopristanoyl-CoA + CoA.", "evidence": [ { "id": "P22307", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22307" } ] }, { "ec_number": "2.3.1.176", "activity": "", "evidence": [ { "id": "P22307", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22307" } ] }, { "ec_number": "2.3.1.16", "activity": "acetyl-CoA + an acyl-CoA = a 3-oxoacyl-CoA + CoA.", "evidence": [ { "id": "P22307", "database": "UniProtKB", "url": 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"activity": "an acyl-CoA + dihydroxyacetone phosphate = a 1-acylglycerone 3-phosphate + CoA.", "evidence": [ { "id": "P36148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36148" } ] }, { "ec_number": "2.3.1.15", "activity": "an acyl-CoA + sn-glycerol 3-phosphate = a 1-acyl-sn-glycero-3-phosphate + CoA.", "evidence": [ { "id": "P36148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36148" } ] }, { "ec_number": "2.3.1.15", "activity": "", "evidence": [ { "id": "P36148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P36148" } ] } ] }, { "uniprot_ac": "P43155", "gene_name": "CRAT", "activity": [ { "ec_number": "2.3.1.137", "activity": "(R)-carnitine + octanoyl-CoA = CoA + O-octanoyl-(R)-carnitine.", "evidence": [ { "id": "P43155", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43155" } ] }, { "ec_number": "2.3.1.7", "activity": "(R)-carnitine + acetyl-CoA = CoA + O-acetyl-(R)-carnitine.", "evidence": [ { "id": "P43155", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43155" } ] }, { "ec_number": "2.3.1.7", "activity": "", "evidence": [ { "id": "P43155", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43155" } ] }, { "ec_number": "2.3.1.137", "activity": "", "evidence": [ { "id": "P43155", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43155" } ] } ] }, { "uniprot_ac": "P49753", "gene_name": "ACOT2", "activity": [ { "ec_number": "3.1.2.2", "activity": "H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate.", "evidence": [ { "id": "P49753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49753" } ] }, { "ec_number": "3.1.2.2", "activity": "", "evidence": [ { "id": "P49753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49753" } ] } ] }, { "uniprot_ac": "P98192", "gene_name": "Gnpat", "activity": [ { "ec_number": "2.3.1.42", "activity": "an acyl-CoA + dihydroxyacetone phosphate = a 1-acylglycerone 3-phosphate + CoA.", "evidence": [ { "id": "P98192", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98192" } ] }, { "ec_number": "2.3.1.42", "activity": "", "evidence": [ { "id": "P98192", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P98192" } ] } ] }, { "uniprot_ac": "Q13011", "gene_name": "ECH1", "activity": [ { "ec_number": "5.3.3.-", "activity": "", "evidence": [ { "id": "Q13011", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13011" } ] } ] }, { "uniprot_ac": "Q14032", "gene_name": "BAAT", "activity": [ { "ec_number": "3.1.2.2", "activity": "H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate.", "evidence": [ { "id": "Q14032", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14032" } ] }, { "ec_number": "3.1.2.27", "activity": "(3S)-hydroxy-3-methylglutaryl-CoA + H2O = 3-hydroxy-3-methylglutarate + CoA + H(+).", "evidence": [ { "id": "Q14032", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14032" } ] }, { "ec_number": "2.3.1.65", "activity": "choloyl-CoA + glycine = CoA + glycocholate + H(+).", "evidence": [ { "id": "Q14032", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14032" } ] }, { "ec_number": "2.3.1.65", "activity": "", "evidence": [ { "id": "Q14032", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14032" } ] } ] }, { "uniprot_ac": "Q15067", "gene_name": "ACOX1", "activity": [ { "ec_number": "1.3.3.6", "activity": "a 2,3-saturated acyl-CoA + O2 = a (2E)-enoyl-CoA + H2O2.", "evidence": [ { "id": "Q15067", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15067" } ] }, { "ec_number": "1.3.3.6", "activity": "", "evidence": [ { "id": "Q15067", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15067" } ] } ] }, { "uniprot_ac": "Q2T9J0", "gene_name": "TYSND1", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "Q2T9J0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q2T9J0" } ] } ] }, { "uniprot_ac": "Q6QHF9", "gene_name": "PAOX", "activity": [ { "ec_number": "1.5.3.13", "activity": "H2O + N(1)-acetylspermine + O2 = 3-acetamidopropanal + H2O2 + spermidine.", "evidence": [ { "id": "Q6QHF9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6QHF9" } ] }, { "ec_number": "1.5.3.13", "activity": "", "evidence": [ { "id": "Q6QHF9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6QHF9" } ] } ] }, { "uniprot_ac": "Q86WA8", "gene_name": "LONP2", "activity": [ { "ec_number": "3.4.21.53", "activity": "Hydrolysis of proteins in presence of ATP.", "evidence": [ { "id": "Q86WA8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86WA8" } ] }, { "ec_number": "3.4.21.53", "activity": "", "evidence": [ { "id": "Q86WA8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86WA8" } ] } ] }, { "uniprot_ac": "Q8N9L9", "gene_name": "ACOT4", "activity": [ { "ec_number": "3.1.2.2", "activity": "H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate.", "evidence": [ { "id": "Q8N9L9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N9L9" } ] }, { "ec_number": "3.1.2.3", "activity": "H2O + succinyl-CoA = CoA + H(+) + succinate.", "evidence": [ { "id": "Q8N9L9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N9L9" } ] }, { "ec_number": "3.1.2.3", "activity": "", "evidence": [ { "id": "Q8N9L9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N9L9" } ] } ] }, { "uniprot_ac": "Q99424", "gene_name": "ACOX2", "activity": [ { "ec_number": "1.17.99.3", "activity": "(25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA + A + H2O = (24R,25R)-3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestan-26-oyl-CoA + AH2.", "evidence": [ { "id": "Q99424", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99424" } ] }, { "ec_number": "1.17.99.3", "activity": "", "evidence": [ { "id": "Q99424", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99424" } ] } ] }, { "uniprot_ac": "Q99489", "gene_name": "DDO", "activity": [ { "ec_number": "1.4.3.1", "activity": "D-aspartate + H2O + O2 = H2O2 + NH4(+) + oxaloacetate.", "evidence": [ { "id": "Q99489", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99489" } ] }, { "ec_number": "1.4.3.1", "activity": "", "evidence": [ { "id": "Q99489", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99489" } ] } ] }, { "uniprot_ac": "Q9BTZ2", "gene_name": "DHRS4", "activity": [ { "ec_number": "1.1.1.184", "activity": "a secondary alcohol + NADP(+) = a ketone + H(+) + NADPH.", "evidence": [ { "id": "Q9BTZ2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTZ2" } ] }, { "ec_number": "1.1.1.184", "activity": "", "evidence": [ { "id": "Q9BTZ2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTZ2" } ] } ] }, { "uniprot_ac": "Q9BY49", "gene_name": "PECR", "activity": [ { "ec_number": "1.3.1.38", "activity": "a (2E)-enoyl-CoA + H(+) + NADPH = a 2,3-saturated acyl-CoA + NADP(+).", "evidence": [ { "id": "Q9BY49", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BY49" } ] }, { "ec_number": "1.3.1.38", "activity": "", "evidence": [ { "id": "Q9BY49", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BY49" } ] } ] }, { "uniprot_ac": "Q9ES71", "gene_name": "Gnpat", "activity": [ { "ec_number": "2.3.1.42", "activity": "an acyl-CoA + dihydroxyacetone phosphate = a 1-acylglycerone 3-phosphate + CoA.", "evidence": [ { "id": "Q9ES71", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9ES71" } ] }, { "ec_number": "2.3.1.42", "activity": "", "evidence": [ { "id": "Q9ES71", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9ES71" } ] } ] }, { "uniprot_ac": "Q9NUI1", "gene_name": "DECR2", "activity": [ { "ec_number": "1.3.1.124", "activity": "a (2E,4E)-dienoyl-CoA + H(+) + NADPH = a 4,5-saturated-(3E)-enoyl-CoA + NADP(+).", "evidence": [ { "id": "Q9NUI1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NUI1" } ] }, { "ec_number": "1.3.1.124", "activity": "", "evidence": [ { "id": "Q9NUI1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NUI1" } ] } ] }, { "uniprot_ac": "Q9NYQ3", "gene_name": "HAO2", "activity": [ { "ec_number": "1.1.3.15", "activity": "glycolate + O2 = glyoxylate + H2O2.", "evidence": [ { "id": "Q9NYQ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NYQ3" } ] }, { "ec_number": "1.1.3.15", "activity": "", "evidence": [ { "id": "Q9NYQ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NYQ3" } ] } ] }, { "uniprot_ac": "Q9P0Z9", "gene_name": "PIPOX", "activity": [ { "ec_number": "1.5.3.1", "activity": "H2O + O2 + sarcosine = formaldehyde + glycine + H2O2.", "evidence": [ { "id": "Q9P0Z9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0Z9" } ] }, { "ec_number": "1.5.3.1", "activity": "", "evidence": [ { "id": "Q9P0Z9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0Z9" } ] }, { "ec_number": "1.5.3.7", "activity": "L-pipecolate + O2 = H(+) + H2O2 + L-1-piperideine-6-carboxylate.", "evidence": [ { "id": "Q9P0Z9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0Z9" } ] }, { "ec_number": "1.5.3.7", "activity": "", "evidence": [ { "id": "Q9P0Z9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0Z9" } ] } ] }, { "uniprot_ac": "Q9UHK6", "gene_name": "AMACR", "activity": [ { "ec_number": "5.1.99.4", "activity": "a (2S)-2-methylacyl-CoA = a (2R)-2-methylacyl-CoA.", "evidence": [ { "id": "Q9UHK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UHK6" } ] }, { "ec_number": "5.1.99.4", "activity": "", "evidence": [ { "id": "Q9UHK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UHK6" } ] } ] }, { "uniprot_ac": "Q9UJ83", "gene_name": "HACL1", "activity": [ { "ec_number": "4.1.2.63", "activity": "2-hydroxy-3-methylhexadecanoyl-CoA = 2-methylpentadecanal + formyl-CoA.", "evidence": [ { "id": "Q9UJ83", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UJ83" } ] }, { "ec_number": "4.1.2.63", "activity": "", "evidence": [ { "id": "Q9UJ83", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UJ83" } ] } ] }, { "uniprot_ac": "Q9UJM8", "gene_name": "HAO1", "activity": [ { "ec_number": "1.1.3.15", "activity": "glycolate + O2 = glyoxylate + H2O2.", "evidence": [ { "id": "Q9UJM8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UJM8" } ] }, { "ec_number": "1.2.3.5", "activity": "glyoxylate + H2O + O2 = H(+) + H2O2 + oxalate.", "evidence": [ { "id": "Q9UJM8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UJM8" } ] }, { "ec_number": "1.1.3.15", "activity": "", "evidence": [ { "id": "Q9UJM8", "database": "UniProtKB", "url": 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"cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 12, 17 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": 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"count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 126 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }