{ "uniprot_canonical_ac": "O00116-1", "uniprot_ac": "O00116", "uniprot_id": "ADAS_HUMAN", "mass": { "chemical_mass": 72912.0, "monoisotopic_mass": 72912.0 }, "refseq": { "ac": "NP_003650", "name": "alkyldihydroxyacetonephosphate synthase, peroxisomal precursor", "summary": "This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003650" }, "gene_names": [ { "name": "AGPS", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00116", "id": "O00116" }, { "name": "AAG5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00116", "id": "O00116" }, { "name": "ADAP-S; ADAS; ADHAPS; ADPS; ALDHPSY; RCDP3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003650", "id": "NP_003650" }, { "name": "AGPS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003650", "id": "NP_003650" } ], "protein_names": [ { "name": "Alkyldihydroxyacetonephosphate synthase, peroxisomal", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00116" }, { "name": "2.5.1.26", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00116" }, { "name": "Aging-associated gene 5 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00116" }, { "name": "Alkyl-DHAP synthase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00116" }, { "name": "Alkylglycerone-phosphate synthase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00116" }, { "name": "alkyldihydroxyacetonephosphate synthase, peroxisomal precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003650", "id": "NP_003650" }, { "name": "alkyldihydroxyacetonephosphate synthase, peroxisomal; alkyl-DHAP synthase; aging-associated protein 5; aging-associated gene 5 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003650", "id": "NP_003650" } ], "function": [ { "annotation": "Catalyzes the exchange of an acyl for a long-chain alkyl group and the formation of the ether bond in the biosynthesis of ether phospholipids.", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GWA2", "url": "https://www.uniprot.org/uniprot/A0A1B0GWA2#function" }, { "database": "UniProtKB", "id": "RU363113", "url": "https://www.uniprot.org/uniprot/RU363113#function" }, { "database": "UniProtKB", "id": "A0A2R8YEL0", "url": "https://www.uniprot.org/uniprot/A0A2R8YEL0#function" }, { "database": "UniProtKB", "id": "A0A7P0T8Q7", "url": "https://www.uniprot.org/uniprot/A0A7P0T8Q7#function" }, { "database": "UniProtKB", "id": "A0A7P0TAU9", "url": "https://www.uniprot.org/uniprot/A0A7P0TAU9#function" }, { "database": "UniProtKB", "id": "B8ZZ81", "url": "https://www.uniprot.org/uniprot/B8ZZ81#function" }, { "database": "UniProtKB", "id": "A0A7P0T857", "url": "https://www.uniprot.org/uniprot/A0A7P0T857#function" }, { "database": "UniProtKB", "id": "B7Z3Q4", "url": "https://www.uniprot.org/uniprot/B7Z3Q4#function" }, { "database": "UniProtKB", "id": "A0A7P0T9C9", "url": "https://www.uniprot.org/uniprot/A0A7P0T9C9#function" }, { "database": "UniProtKB", "id": "A0A7P0TAL3", "url": "https://www.uniprot.org/uniprot/A0A7P0TAL3#function" }, { "database": "UniProtKB", "id": "A0A7P0T984", "url": "https://www.uniprot.org/uniprot/A0A7P0T984#function" }, { "database": "UniProtKB", "id": "A0A7P0TA54", "url": "https://www.uniprot.org/uniprot/A0A7P0TA54#function" } ] }, { "annotation": "Catalyzes the exchange of the acyl chain in acyl-dihydroxyacetonephosphate (acyl-DHAP) for a long chain fatty alcohol, yielding the first ether linked intermediate, i.e. alkyl-dihydroxyacetonephosphate (alkyl-DHAP), in the pathway of ether lipid biosynthesis.", "evidence": [ { "database": "UniProtKB", "id": "O00116", "url": "https://www.uniprot.org/uniprot/O00116#function" }, { "database": "PubMed", "id": "9553082", "url": "https://glygen.org/publication/PubMed/9553082" }, { "database": "PubMed", "id": "8399344", "url": "https://glygen.org/publication/PubMed/8399344" } ] }, { "annotation": "Mass Spectrometry and Computer Simulation Predict the Interactions of AGPS and HNRNPK in Glioma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003650", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003650" }, { "database": "PubMed", "id": "34621897", "url": "https://glygen.org/publication/PubMed/34621897" } ] }, { "annotation": "This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003650", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003650" } ] }, { "annotation": "TrkA promotes MDM2-mediated AGPS ubiquitination and degradation to trigger prostate cancer progression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003650", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003650" }, { "database": "PubMed", "id": "38200609", "url": "https://glygen.org/publication/PubMed/38200609" } ] }, { "annotation": "We optimized the BITC construction targeting alkylglycerone phosphate synthase (AGPS) by computer-aided design, and the derivants also showed anti-tumor potential in vitro.", "evidence": [ { "database": "RefSeq", "id": "NP_003650", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003650" }, { "database": "PubMed", "id": "25542233", "url": "https://glygen.org/publication/PubMed/25542233" } ] } ], "disease": [ { "disease_id": "DOID:0110853", "recommended_name": { "id": "DOID:0110853", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110853", "name": "rhizomelic chondrodysplasia punctata type 3", "description": "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2." }, "synonyms": [ { "id": "DOID:0110853", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110853", "name": "Agps Deficiency", "description": "" }, { "id": "DOID:0110853", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110853", "name": "Alkyldihydroxyacetonephosphate Synthase Deficiency", "description": "" }, { "id": "DOID:0110853", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110853", "name": "Alkylglycerone-Phosphate Synthase Deficiency", "description": "" }, { "id": "DOID:0110853", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110853", "name": "Rcdp3", "description": "" }, { "id": "MONDO:0010823", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010823", "name": "rhizomelic chondrodysplasia punctata type 3", "description": "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene." }, { "id": "MONDO:0010823", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010823", "name": "AGPS deficiency", "description": "" }, { "id": "MONDO:0010823", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010823", "name": "alkyldihydroxyacetonephosphate synthase deficiency", "description": "" }, { "id": "MONDO:0010823", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010823", "name": "alkylglycerone-phosphate synthase deficiency", "description": "" }, { "id": "MONDO:0010823", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010823", "name": "AGPS rhizomelic chondrodysplasia punctata", "description": "" }, { "id": "MONDO:0010823", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010823", "name": "RCDP3", "description": "" }, { "id": "MONDO:0010823", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010823", "name": "rhizomelic chondrodysplasia punctata caused by mutation in AGPS", "description": "" }, { "id": "MONDO:0010823", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010823", "name": "rhizomelic chondrodysplasia punctata type 3", "description": "" }, { "id": "MONDO:0010823", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010823", "name": "rhizomelic chondrodysplasia punctata, type 3", "description": "" }, { "id": "MIM:600121", "resource": "MIM", "url": "https://www.omim.org/entry/600121", "name": "Rhizomelic chondrodysplasia punctata 3", "description": "Rhizomelic chondrodysplasia punctata 3" } ], "evidence": [ { "id": "600121", "database": "MIM", "url": "https://www.omim.org/entry/600121" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "74.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000018510", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000018510" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "81.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000018510", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000018510" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "72.74", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000018510", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000018510" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000018510", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000018510" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "81.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000018510", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000018510" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "88.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000018510", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000018510" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "59.72", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000018510", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000018510" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "80.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000018510", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000018510" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "75.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000018510", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000018510" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "62.37", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000018510", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000018510" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "84.23", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000018510", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000018510" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "72.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000018510", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000018510" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "78.72", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000018510", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000018510" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00116", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00116" } ], "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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00116", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00116" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": 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results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00116", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00116" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00116" } ], "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 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"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": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00116", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00116" } ], "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00116", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00116" } ], "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": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00116", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00116" } ], "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": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00116", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00116" } ], "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": 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"name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O00116", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00116" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46568", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46568:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46568:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF01565", "url": "http://pfam.xfam.org/family/PF01565", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02913", "url": "http://pfam.xfam.org/family/PF02913", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O00116", "url": "https://pharos.nih.gov/targets/O00116", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O00116", "url": "http://purl.obolibrary.org/obo/PR_O00116", "database": "PRO", "categories": [ "Protein" ] }, { "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": "R-HSA-9033500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033500", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003650", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003650", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "36171", "url": "https://www.rhea-db.org/rhea/36171", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "40659", "url": "https://www.rhea-db.org/rhea/40659", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "40727", "url": "https://www.rhea-db.org/rhea/40727", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A1B0GWA2", "url": "https://www.uniprot.org/uniprot/A0A1B0GWA2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GWA2-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GWA2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YEL0", "url": "https://www.uniprot.org/uniprot/A0A2R8YEL0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YEL0-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YEL0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T857", "url": "https://www.uniprot.org/uniprot/A0A7P0T857", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T857-1", "url": "https://www.uniprot.org/uniprot/A0A7P0T857-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T8Q7", "url": "https://www.uniprot.org/uniprot/A0A7P0T8Q7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T8Q7-1", "url": "https://www.uniprot.org/uniprot/A0A7P0T8Q7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T984", "url": "https://www.uniprot.org/uniprot/A0A7P0T984", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T984-1", "url": "https://www.uniprot.org/uniprot/A0A7P0T984-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T9C9", "url": "https://www.uniprot.org/uniprot/A0A7P0T9C9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0T9C9-1", "url": "https://www.uniprot.org/uniprot/A0A7P0T9C9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TA54", "url": "https://www.uniprot.org/uniprot/A0A7P0TA54", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TA54-1", "url": "https://www.uniprot.org/uniprot/A0A7P0TA54-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TAL3", "url": "https://www.uniprot.org/uniprot/A0A7P0TAL3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TAL3-1", "url": "https://www.uniprot.org/uniprot/A0A7P0TAL3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TAU9", "url": "https://www.uniprot.org/uniprot/A0A7P0TAU9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7P0TAU9-1", "url": "https://www.uniprot.org/uniprot/A0A7P0TAU9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z3Q4", "url": "https://www.uniprot.org/uniprot/B7Z3Q4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B7Z3Q4-1", "url": "https://www.uniprot.org/uniprot/B7Z3Q4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B8ZZ81", "url": "https://www.uniprot.org/uniprot/B8ZZ81", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B8ZZ81-1", "url": "https://www.uniprot.org/uniprot/B8ZZ81-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00116", "url": "https://www.uniprot.org/uniprot/O00116", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00116-1", "url": "https://www.uniprot.org/uniprot/O00116-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAASAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSDTPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYGLMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQLKESGYCTGHEPDSLEFSTVGGWVSTRASGMKKNIYGNIEDLVVHIKMVTPRGIIEKSCQGPRMSTGPDIHHFIMGSEGTLGVITEATIKIRPVPEYQKYGSVAFPNFEQGVACLREIAKQRCAPASIRLMDNKQFQFGHALKPQVSSIFTSFLDGLKKFYITKFKGFDPNQLSVATLLFEGDREKVLQHEKQVYDIAAKFGGLAAGEDNGQRGYLLTYVIAYIRDLALEYYVLGESFETSAPWDRVVDLCRNVKERITRECKEKGVQFAPFSTCRVTQTYDAGACIYFYFAFNYRGISDPLTVFEQTEAAAREEILANGGSLSHHHGVGKLRKQWLKESISDVGFGMLKSVKEYVDPNNIFGNRNLL", "length": 658, "header": "sp|O00116-1|ADAS_HUMAN Isoform 1 of Alkyldihydroxyacetonephosphate synthase, peroxisomal OS=Homo sapiens OX=9606 GN=AGPS PE=1 SV=1 CANONICAL=O00116-1" }, "isoforms": [ { "isoform_ac": "A0A1B0GWA2-1", "url": "", "sequence": { "sequence": "MAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAASAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSDTPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYGLMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQLKESGYCTGHEPDSLEFSTVGGWVSTRASGMKKNIYGNIEDLVVHIKMVTPRGIIEKSCQGPRMSTGPDIHHFIMGSEGTLGVITEATIKIRPVPEYQKYGSVAFPNFEQGVACLREIAKQRCAPASIRLMDNKQFQFGHALKPQVSSIFTSFLDGLKKFYITKFKGFDPNQLSVATLLFEGDREKVLQHEKQVYDIAAKFGGLAAGEDNGQRGYLLTYVIAYIRDLALEYYVLGESFETSAPWDRVVDLCRNVKERITRECKEKGVQFAPFSTCRVTQTYDAGACIYFYFAFNYRGISDPLTVFEQTEAAAREEILANGGSLSHHHGGLQLEGTCYES", "length": 629, "header": "tr|A0A1B0GWA2-1|ADAS_HUMAN Computationally mapped isoform of Alkyldihydroxyacetonephosphate synthase, peroxisomal OS=Homo sapiens OX=9606 GN=AGPS PE=1 SV=2 CANONICAL=O00116-1" }, "locus": { "chromosome": "2", "start_pos": 177558783, "end_pos": 177392790, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637633.2", "url": "https://www.ensembl.org/id/ENST00000637633.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000490844.2", "url": "https://www.ensembl.org/id/ENSP00000490844.2" } ] } }, { "isoform_ac": "A0A2R8YEL0-1", "url": "", "sequence": { "sequence": "MAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAASAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSDTPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYGLMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQLKESGYCTGHEPDSLEFSTVGGWVSTRASGMKKNIYGNIEDLVVHIKMVTPRGIIEKSCQGPRMSTGPDIHHFIMGSEGTLGVITEATIKIRPVPEYQKYGSVAFPNFEQGVACLREIAKQRCAPASIRLMDNKQFQFGHALKPQVSSIFTSFLDGLKKFYITKFKGFDPNQLSVATLLFEGDREKVLQHEKQVYDIAAKFGGLAAGEDNGQRGYLLTYVIAYIRDLALEYYVLGESFETSAPWDRVVDLCRNVKERITRECKEKGVQFAPFSTCRVTQTYDAGACIYFYFAFNYRGISDPLTVFEQTEAAAREEILANGGSLSHHHGEHEPHSTSTHHGRYRIPQICGRSFPPLDNFQDSSRFLPEPSTQECISPWFHHIHSLPF", "length": 676, "header": "tr|A0A2R8YEL0-1|ADAS_HUMAN Computationally mapped isoform of Alkyldihydroxyacetonephosphate synthase, peroxisomal OS=Homo sapiens OX=9606 GN=AGPS PE=1 SV=2 CANONICAL=O00116-1" }, "locus": { "chromosome": "2", "start_pos": 177551535, "end_pos": 177392790, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642466.2", "url": "https://www.ensembl.org/id/ENST00000642466.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000494433.2", "url": "https://www.ensembl.org/id/ENSP00000494433.2" } ] } }, { "isoform_ac": "A0A7P0T857-1", "url": "", "sequence": { "sequence": "MAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAASAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRALIYS", "length": 122, "header": "tr|A0A7P0T857-1|ADAS_HUMAN Computationally mapped isoform of Alkyldihydroxyacetonephosphate synthase, peroxisomal OS=Homo sapiens OX=9606 GN=AGPS PE=1 SV=1 CANONICAL=O00116-1" }, "locus": { "chromosome": "2", "start_pos": 177433001, "end_pos": 177392790, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681752.1", "url": "https://www.ensembl.org/id/ENST00000681752.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504994.1", "url": "https://www.ensembl.org/id/ENSP00000504994.1" } ] } }, { "isoform_ac": "A0A7P0T8Q7-1", "url": "", "sequence": { "sequence": "MAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAASAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSDTPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGVPQIARGFT", "length": 245, "header": "tr|A0A7P0T8Q7-1|ADAS_HUMAN Computationally mapped isoform of Alkyldihydroxyacetonephosphate synthase, peroxisomal OS=Homo sapiens OX=9606 GN=AGPS PE=1 SV=1 CANONICAL=O00116-1" }, "locus": { "chromosome": "2", "start_pos": 177442145, "end_pos": 177392790, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681032.1", "url": "https://www.ensembl.org/id/ENST00000681032.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505205.1", "url": "https://www.ensembl.org/id/ENSP00000505205.1" } ] } }, { "isoform_ac": "A0A7P0T984-1", "url": "", "sequence": { "sequence": "MAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAASAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSDTPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYGLMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQLKESGYCTGHEPDSLEFSTVGGWVSTRASGMKKNIYGNIEDLVVHIKMVTPRGIIEKSCQGPRMSTGPDIHHFIMGSEGTLGVITEATIKIRPVPEYQKYGSVAFPNFEQGVACLREIAKQRCAPASIRLMDNKQFQFGHALKPQVSSIFTSFLDGLKKFYITKFKGFDPNQLSVATLLFEGDREKVLQHEKQVYDIAAKFGGLAAGEDNGQRGYLLTYVIAYIRDLALEYYVLGESFETSAPWDRVVDLCRNVKERITRECKEKGVQFAPFSTCRVTQTYDAGACIYFYFAFNYRGISDPLTVFEQTEAAAREEILANGGSLSHHHGGILFWE", "length": 624, "header": "tr|A0A7P0T984-1|A0A7P0T984_HUMAN Computationally mapped isoform of Alkylglycerone-phosphate synthase OS=Homo sapiens OX=9606 GN=AGPS PE=1 SV=1 CANONICAL=O00116-1" }, "locus": { "chromosome": "2", "start_pos": 177523822, "end_pos": 177392790, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680770.1", "url": "https://www.ensembl.org/id/ENST00000680770.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505536.1", "url": "https://www.ensembl.org/id/ENSP00000505536.1" } ] } }, { "isoform_ac": "A0A7P0T9C9-1", "url": "", "sequence": { "sequence": "MAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAASAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSDTPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYGLMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQLKESGYCTGHEPDSLEFSTVGGWVSTRASGMKKNIYGNIEDLCYRAEAHRY", "length": 341, "header": "tr|A0A7P0T9C9-1|ADAS_HUMAN Computationally mapped isoform of Alkyldihydroxyacetonephosphate synthase, peroxisomal OS=Homo sapiens OX=9606 GN=AGPS PE=1 SV=1 CANONICAL=O00116-1" }, "locus": { "chromosome": "2", "start_pos": 177464747, "end_pos": 177392790, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681565.1", "url": "https://www.ensembl.org/id/ENST00000681565.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505620.1", "url": "https://www.ensembl.org/id/ENSP00000505620.1" } ] } }, { "isoform_ac": "A0A7P0TA54-1", "url": "", "sequence": { "sequence": "MAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAASAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSDTPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGRRNKCFIWPDVSCR", "length": 251, "header": "tr|A0A7P0TA54-1|A0A7P0TA54_HUMAN Computationally mapped isoform of Alkylglycerone-phosphate synthase OS=Homo sapiens OX=9606 GN=AGPS PE=1 SV=1 CANONICAL=O00116-1" }, "locus": { "chromosome": "2", "start_pos": 177442446, "end_pos": 177392790, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680893.1", "url": "https://www.ensembl.org/id/ENST00000680893.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505929.1", "url": "https://www.ensembl.org/id/ENSP00000505929.1" } ] } }, { "isoform_ac": "A0A7P0TAL3-1", "url": "", "sequence": { "sequence": "MAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAASAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSDTPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYGLMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQLKESGYCTGHEPDSLEFSTVGGWVSTRASGMKKNIYGNIEDLVVHIKMVTPRGIIEKSCQGPRMSTGPDIHHFIMGSEGTLGVITEATIKIRPVPEYQKYGSVAFPNFEQGVACLREIAKQRCAPASIRLMDNKQFQFGHALKPQVSSIFTSFLDGLKKFYITKFKGFDPNQLSVATLLFEGDREKVLQHEKQVYDIAAKFGGLAAGEDNGQRGYLLTYVIAYIRDLALEYYVLGESFETSAPWDRVVDLCRNVKERITRECKEKGVQFAPFSTCRVTQTYDAGACIYFYFAFNYRGISDPLTVFEQTEAAAREEILANGGSLSHHHGESRPVARLECSGMVSAHCNL", "length": 638, "header": "tr|A0A7P0TAL3-1|ADAS_HUMAN Computationally mapped isoform of Alkyldihydroxyacetonephosphate synthase, peroxisomal OS=Homo sapiens OX=9606 GN=AGPS PE=1 SV=1 CANONICAL=O00116-1" }, "locus": { "chromosome": "2", "start_pos": 177566879, "end_pos": 177392790, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000679459.1", "url": "https://www.ensembl.org/id/ENST00000679459.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506137.1", "url": "https://www.ensembl.org/id/ENSP00000506137.1" } ] } }, { "isoform_ac": "A0A7P0TAU9-1", "url": "", "sequence": { "sequence": "MKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSDTPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYGLMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQLKESGYCTGHEPDSLEFSTVGGWVSTRASGMKKNIYGNIEDLVVHIKMVTPRGIIEKSCQGPRMSTGPDIHHFIMGSEGTLGVITEATIKIRPVPEYQKYGSVAFPNFEQGVACLREIAKQRCAPASIRLMDNKQFQFGHALKPQVSSIFTSFLDGLKKFYITKFKGFDPNQLSVATLLFEGDREKVLQHEKQVYDIAAKFGTWLWNTMY", "length": 410, "header": "tr|A0A7P0TAU9-1|ADAS_HUMAN Computationally mapped isoform of Alkyldihydroxyacetonephosphate synthase, peroxisomal OS=Homo sapiens OX=9606 GN=AGPS PE=1 SV=1 CANONICAL=O00116-1" }, "locus": { "chromosome": "2", "start_pos": 177507994, "end_pos": 177420279, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681028.1", "url": "https://www.ensembl.org/id/ENST00000681028.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506323.1", "url": "https://www.ensembl.org/id/ENSP00000506323.1" } ] } }, { "isoform_ac": "B7Z3Q4-1", "url": "", "sequence": { "sequence": "MKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSDTPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYGLMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQLKESGYCTGHEPDSLEFSTVGGWVSTRASGMKKNIYGNIEDLVVHIKMVTPRGIIEKSCQGPRMSTGPDIHHFIMGSEGTLGVITEATIKIRPVPEYQKYGSVAFPNFEQGVACLREIAKQRCAPASIRLMDNKQFQFGHALKPQVSSIFTSFLDGLKKFYITKFKGFDPNQLSVATLLFEGDREKVLQHEKQVYDIAAKFGGLAAGEDNGQRGYLLTYVIAYIRDLALEYYVLGESFETSAPWDRVVDLCRNVKERITRECKEKGVQFAPFSTCRVTQTYDAGACIYFYFAFNYRGISDPLTVFEQTEAAAREEILANGGSLSHHHGVGKLRKQWLKESISDVGFGMLKSVKEYVDPNNIFGNRNLL", "length": 568, "header": "tr|B7Z3Q4-1|ADAS_HUMAN Computationally mapped isoform of Alkyldihydroxyacetonephosphate synthase, peroxisomal OS=Homo sapiens OX=9606 GN=AGPS PE=1 SV=1 CANONICAL=O00116-1" }, "locus": { "chromosome": "2", "start_pos": 177538192, "end_pos": 177420279, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681449.1", "url": "https://www.ensembl.org/id/ENST00000681449.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505342.1", "url": "https://www.ensembl.org/id/ENSP00000505342.1" } ] } }, { "isoform_ac": "B8ZZ81-1", "url": "", "sequence": { "sequence": "MAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAASAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRGISDPLTVFEQTEAAAREEILANGGSLSHHHGVGKLRKQWLKESISDVGFGMLKSVKEYVDPNNIFGNRNLL", "length": 189, "header": "tr|B8ZZ81-1|ADAS_HUMAN Computationally mapped isoform of Alkyldihydroxyacetonephosphate synthase, peroxisomal OS=Homo sapiens OX=9606 GN=AGPS PE=1 SV=1 CANONICAL=O00116-1" }, "locus": { "chromosome": "2", "start_pos": 177538192, "end_pos": 177392790, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000409888.1", "url": "https://www.ensembl.org/id/ENST00000409888.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000386688.1", "url": "https://www.ensembl.org/id/ENSP00000386688.1" } ] } }, { "isoform_ac": "O00116-1", "url": "", "sequence": { "sequence": "MAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAASAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSDTPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYGLMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQLKESGYCTGHEPDSLEFSTVGGWVSTRASGMKKNIYGNIEDLVVHIKMVTPRGIIEKSCQGPRMSTGPDIHHFIMGSEGTLGVITEATIKIRPVPEYQKYGSVAFPNFEQGVACLREIAKQRCAPASIRLMDNKQFQFGHALKPQVSSIFTSFLDGLKKFYITKFKGFDPNQLSVATLLFEGDREKVLQHEKQVYDIAAKFGGLAAGEDNGQRGYLLTYVIAYIRDLALEYYVLGESFETSAPWDRVVDLCRNVKERITRECKEKGVQFAPFSTCRVTQTYDAGACIYFYFAFNYRGISDPLTVFEQTEAAAREEILANGGSLSHHHGVGKLRKQWLKESISDVGFGMLKSVKEYVDPNNIFGNRNLL", "length": 658, "header": "sp|O00116-1|ADAS_HUMAN Isoform 1 of Alkyldihydroxyacetonephosphate synthase, peroxisomal OS=Homo sapiens OX=9606 GN=AGPS PE=1 SV=1 CANONICAL=O00116-1" }, "locus": { "chromosome": "2", "start_pos": 177538192, "end_pos": 177392790, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000264167.11", "url": "https://www.ensembl.org/id/ENST00000264167.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000264167.4", "url": "https://www.ensembl.org/id/ENSP00000264167.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 348, "start_aa": "Ser", "end_pos": 348, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser348", "evidence": [ { "id": "O00116", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00116" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 11, "end_pos": 11, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00116", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00116" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr11" }, { "start_pos": 42, "end_pos": 42, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00116", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00116" }, { "database": "PubMed", "id": "27920218", "url": "" } ], "site_lbl": "Ser42" }, { "start_pos": 65, "end_pos": 65, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00116", "url": "https://www.uniprot.org/uniprot/O00116" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00116", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00116" } ], "site_lbl": "Ser65" }, { "start_pos": 68, "end_pos": 68, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00116", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00116" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O00116", "url": "http://phospho.elm.eu.org/byAccession/O00116.html" } ], "site_lbl": "Thr68" }, { "start_pos": 72, "end_pos": 72, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00116", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00116" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr72" }, { "start_pos": 74, "end_pos": 74, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O00116", "url": "https://www.uniprot.org/uniprot/O00116" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00116", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00116" } ], "site_lbl": "Thr74" } ], "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": "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": "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": "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": "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": "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": "O00116", "url": "https://www.uniprot.org/uniprot/O00116" } ], "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": "Biochemical and biophysical research communications", "date": "2001", "authors": "Ofman R, Lajmir S, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-75896", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75896" } ], "reference": [ { "type": "PubMed", "id": "11237722", "url": "https://glygen.org/publication/PubMed/11237722" } ] }, { "title": "Domain mapping of human PEX5 reveals functional and structural similarities to Saccharomyces cerevisiae Pex18p and Pex21p.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Dodt G, Warren D, Becker E, Rehling P, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "11546814", "url": "https://glygen.org/publication/PubMed/11546814" } ] }, { "title": "Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.", "journal": "American journal of human genetics", "date": "2002", "authors": "Motley AM, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, Tabak HF, Wanders RJ, Waterham HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "11781871", "url": "https://glygen.org/publication/PubMed/11781871" } ] }, { "title": "Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins.", "journal": "The Biochemical journal", "date": "2002", "authors": "Ghys K, Fransen M, Mannaerts GP, Van Veldhoven PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "11931631", "url": "https://glygen.org/publication/PubMed/11931631" } ] }, { "title": "PEX5 binds the PTS1 independently of Hsp70 and the peroxin PEX12.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Harper CC, Berg JM, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "12456682", "url": "https://glygen.org/publication/PubMed/12456682" } ] }, { "title": "Protein structure and import into the peroxisomal matrix.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2003", "authors": "Brocard CB, Jedeszko C, Song HC, Terlecky SR, Walton PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "12559034", "url": "https://glygen.org/publication/PubMed/12559034" } ] }, { "title": "Correlating structure and affinity for PEX5:PTS1 complexes.", "journal": "Biochemistry", "date": "2003", "authors": "Gatto GJ Jr, Maynard EL, Guerrerio AL, 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": "12578380", "url": "https://glygen.org/publication/PubMed/12578380" } ] }, { "title": "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.", "journal": "Nature cell biology", "date": "2003", "authors": "Matsumoto N, Tamura S, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "12717447", "url": "https://glygen.org/publication/PubMed/12717447" } ] }, { "title": "The energetics of Pex5p-mediated peroxisomal protein import.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Oliveira ME, Gouveia AM, Pinto RA, Sa-Miranda C, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "12885776", "url": "https://glygen.org/publication/PubMed/12885776" } ] }, { "title": "Pex7p translocates in and out of peroxisomes in Saccharomyces cerevisiae.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Nair DM, Purdue PE, Lazarow PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "15545321", "url": "https://glygen.org/publication/PubMed/15545321" } ] }, { "title": "Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.", "journal": "American journal of human genetics", "date": "2005", "authors": "Weller S, Cajigas I, Morrell J, Obie C, Steel G, Gould SJ, Valle D", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "15858711", "url": "https://glygen.org/publication/PubMed/15858711" } ] }, { "title": "Peroxisomal multifunctional protein-2: the enzyme, the patients and the knockout mouse model.", "journal": "Biochimica et biophysica acta", "date": "2006", "authors": "Huyghe S, Mannaerts GP, Baes M, Van Veldhoven PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033500", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033500" } ], "reference": [ { "type": "PubMed", "id": "16766224", "url": "https://glygen.org/publication/PubMed/16766224" } ] }, { "title": "Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Tamura S, Yasutake S, Matsumoto N, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "16854980", "url": "https://glygen.org/publication/PubMed/16854980" } ] }, { "title": "Peroxisome targeting signal 1: is it really a simple tripeptide?", "journal": "Biochimica et biophysica acta", "date": "2006", "authors": "Brocard C, Hartig A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "17007944", "url": "https://glygen.org/publication/PubMed/17007944" } ] }, { "title": "Ubiquitination of mammalian Pex5p, the peroxisomal import receptor.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Carvalho AF, Pinto MP, Grou CP, Alencastre IS, Fransen M, Sa-Miranda C, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "17726030", "url": "https://glygen.org/publication/PubMed/17726030" } ] }, { "title": "Members of the E2D (UbcH5) family mediate the ubiquitination of the conserved cysteine of Pex5p, the peroxisomal import receptor.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Grou CP, Carvalho AF, Pinto MP, Wiese S, Piechura H, Meyer HE, Warscheid B, Sa-Miranda C, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "18359941", "url": "https://glygen.org/publication/PubMed/18359941" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O00116", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00116" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.", "journal": "Human mutation", "date": "2009", "authors": "Ebberink MS, Mooyer PA, Koster J, Dekker CJ, Eyskens FJ, Dionisi-Vici C, Clayton PT, Barth PG, Wanders RJ, Waterham HR", 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prostate cancer progression.", "journal": "Journal of experimental & clinical cancer research : CR", "date": "2024-01-11", "authors": "Zhang Yu, Huang Zhenlin, Li Keqiang, Xie Guoqing, Feng Yuankang, Wang Zihao, Li Ningyang, Liu Ruoyang, Ding Yinghui, Wang Jun, Yang Jinjian, Jia Zhankui", "evidence": [ { "database": "RefSeq", "id": "NP_003650", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003650" } ], "reference": [ { "type": "PubMed", "id": "38200609", "url": "https://glygen.org/publication/PubMed/38200609" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00116", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00116" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.", "journal": "Nature genetics", "date": "1995", "authors": "Dodt G, Braverman N, Wong C, Moser A, Moser HW, Watkins P, Valle D, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "7719337", "url": "https://glygen.org/publication/PubMed/7719337" } ] }, { "title": "Human peroxisomal targeting signal-1 receptor restores peroxisomal protein import in cells from patients with fatal peroxisomal disorders.", "journal": "The Journal of cell biology", "date": "1995", "authors": "Wiemer EA, Nuttley WM, Bertolaet BL, Li X, Francke U, Wheelock MJ, Anne UK, Johnson KR, Subramani S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": 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"reference": [ { "type": "PubMed", "id": "8399344", "url": "https://glygen.org/publication/PubMed/8399344" } ] }, { "title": "Characterization of the yeast and human receptors for the carboxy-terminal tripeptide peroxisomal targeting signal.", "journal": "Cold Spring Harbor symposia on quantitative biology", "date": "1995", "authors": "Wiemer EA, Terlecky SR, Nuttley WM, Subramani S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "8824437", "url": "https://glygen.org/publication/PubMed/8824437" } ] }, { "title": "Pex13p is an SH3 protein of the peroxisome membrane and a docking factor for the predominantly cytoplasmic PTs1 receptor.", "journal": "The Journal of cell biology", "date": "1996", "authors": "Gould SJ, Kalish JE, Morrell JC, Bjorkman J, Urquhart AJ, Crane DI", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": 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"https://www.reactome.org/PathwayBrowser/#R-HSA-9033500" } ], "reference": [ { "type": "PubMed", "id": "9089413", "url": "https://glygen.org/publication/PubMed/9089413" } ] }, { "title": "Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata.", "journal": "Nature genetics", "date": "1997", "authors": "Braverman N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "9090381", "url": "https://glygen.org/publication/PubMed/9090381" } ] }, { "title": "Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.", "journal": "Nature genetics", "date": "1997", "authors": "Motley AM, Hettema EH, Hogenhout EM, Brites P, ten Asbroek AL, Wijburg FA, Baas F, Heijmans HS, Tabak HF, Wanders RJ, Distel B", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "9090382", "url": "https://glygen.org/publication/PubMed/9090382" } ] }, { "title": "Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.", "journal": "Nature genetics", "date": "1997", "authors": "Purdue PE, Zhang JW, Skoneczny M, Lazarow PB", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "9090383", "url": "https://glygen.org/publication/PubMed/9090383" } ] }, { "title": "Nucleotide sequence of human alkyl-dihydroxyacetonephosphate synthase cDNA reveals the presence of a peroxisomal targeting signal 2.", "journal": "Biochim. Biophys. Acta", "date": "1997", "authors": "de Vet E C, van den Broek B T, van den Bosch H", "evidence": [ { "database": "UniProtKB", "id": "O00116", "url": "https://www.uniprot.org/uniprot/O00116" } ], "reference": [ { "type": "PubMed", "id": "9187299", "url": "https://glygen.org/publication/PubMed/9187299" } ] }, { "title": "Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.", "journal": "Human molecular genetics", "date": "1998", "authors": "Ofman R, Hettema EH, Hogenhout EM, Caruso U, Muijsers AO, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-75896", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-75896" } ], "reference": [ { "type": "PubMed", "id": "9536089", "url": "https://glygen.org/publication/PubMed/9536089" } ] }, { "title": "Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Tamura S, Okumoto K, Toyama R, Shimozawa N, Tsukamoto T, Suzuki Y, Osumi T, Kondo N, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "9539740", "url": "https://glygen.org/publication/PubMed/9539740" } ] }, { "title": "Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "de Vet EC, Ijlst L, Oostheim W, Wanders RJ, van den Bosch H", "evidence": [ { "database": "UniProtKB", "id": "O00116", "url": "https://www.uniprot.org/uniprot/O00116" } ], "reference": [ { "type": "PubMed", "id": "9553082", "url": "https://glygen.org/publication/PubMed/9553082" } ] }, { "title": "Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Fransen M, Terlecky SR, Subramani S", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "9653144", "url": 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"go_annotation": { "categories": [ { "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": "O00116", "url": "https://www.uniprot.org/uniprot/O00116" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "O00116", "url": "https://www.uniprot.org/uniprot/O00116" } ], "pmid": "" }, { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "O00116", "url": "https://www.uniprot.org/uniprot/O00116" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "O00116", "url": "https://www.uniprot.org/uniprot/O00116" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O00116", "url": "https://www.uniprot.org/uniprot/O00116" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O00116", "url": "https://www.uniprot.org/uniprot/O00116" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "alkylglycerone-phosphate synthase activity", "id": "GO:0008609", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008609", "evidence": [ { "database": "UniProtKB", "id": "O00116", "url": "https://www.uniprot.org/uniprot/O00116" } ], "pmid": "" }, { "name": "FAD binding", "id": "GO:0071949", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071949", "evidence": [ { "database": "UniProtKB", "id": "O00116", "url": "https://www.uniprot.org/uniprot/O00116" } ], "pmid": "" }, { "name": "flavin adenine dinucleotide binding", "id": "GO:0050660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050660", "evidence": [ { "database": "UniProtKB", "id": "O00116", "url": "https://www.uniprot.org/uniprot/O00116" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "ether lipid biosynthetic process", "id": "GO:0008611", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008611", "evidence": [ { "database": "UniProtKB", "id": "O00116", "url": "https://www.uniprot.org/uniprot/O00116" } ], "pmid": "" }, { "name": "lipid biosynthetic process", "id": "GO:0008610", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008610", "evidence": [ { "database": "UniProtKB", "id": "O00116", "url": "https://www.uniprot.org/uniprot/O00116" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 172, "end_pos": 174, "annotation": "n_glycosylation_sequon" }, { "start_pos": 273, "end_pos": 275, "annotation": "n_glycosylation_sequon" }, { "start_pos": 99, "end_pos": 101, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "36171", "name": "", "equation": "a 1-acylglycerone 3-phosphate + a long chain fatty alcohol = 1-O-alkylglycerone 3-phosphate + a long-chain fatty acid + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9EQR2-1", "O00116-1", "Q8C0I1-1", "O96759-1", "Q9V778-1" ], "evidence": [ { "id": "36171", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/36171" } ] }, { "id": "40659", "name": "", "equation": "1-hexadecanoylglycerone 3-phosphate + hexadecan-1-ol = 1-O-hexadecylglycerone 3-phosphate + H(+) + hexadecanoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9EQR2-1", "O00116-1", "Q8C0I1-1" ], "evidence": [ { "id": "40659", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/40659" } ] }, { "id": "40727", "name": "", "equation": "1-hexadecanoylglycerone 3-phosphate + a long-chain fatty acid = a 1-acylglycerone 3-phosphate + hexadecanoate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9EQR2-1", "O00116-1", "Q8C0I1-1" ], "evidence": [ { "id": "40727", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/40727" } ] }, { "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-9033232", "name": "PEX7 binds cargo proteins containing PTS2", "equation": "", "summary": "Cytosolic PEX7 binds peroxisome targeting signal 2 (PTS2), a sequence of nine amino acid residues functionally identified in 3 human peroxisomal matrix proteins (Braverman et al. 1997, Motley et al. 1997, Purdue et al. 1997, Braverman et al. 2000, Ghys et al. 2002, Motley et al. 2002, Kunze et al. 2011, Kunze et al. 2015). According to molecular modeling, the PTS2 consensus sequence binds a groove in PEX7 (Kunze et al. 2011). Mutations in PEX7 cause rhizomelic chondrodysplasia punctata type 1 (Braverman et al. 1997, Motley et al. 1997, Purdue et al. 1997).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P09110-1", "O14832-1", "O00116-1" ], "evidence": [ { "id": "R-HSA-9033232", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033232" } ] }, { "id": "R-HSA-9033238", "name": "PEX5L:PEX7:Cargo binds PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Module)", "equation": "", "summary": "PEX5L bound to PEX7:Cargo interacts with the peroxisomal membrane complex PEX13:PEX14:PEX2:PEX10:PEX12 (the Docking-Translocation Complex) thus bringing PEX7 and its cargo to dock at the peroxisomal membrane (Gould et al. 1996, Fransen et al. 1998, Will et al. 1999, Dodt et al. 2001, Rodrigues et al. 2014, Rodrigues et al. 2015, also inferred from hamster and rat homologues).", "cellular_location": "peroxisomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P28328-1", "P09110-1", "O14832-1", "O00116-1", "O60683-1" ], "evidence": [ { "id": "R-HSA-9033238", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033238" } ] }, { "id": "R-HSA-9033240", "name": "PEX5L binds PEX7:Cargo protein", "equation": "", "summary": "The long isoform of PEX5, PEX5L, binds PEX7 that is already bound to a PTS2-containing cargo protein (Braverman et al. 1998, Dodt et al. 2001, Kunze et al. 2015, Rodrigues et al. 2015). The binding of PEX5L to PEX7 increases the affinity of PEX7 for cargo protein (Kunze et al. 2015). Mutations affecting the additional sequence present only in the long isoform of PEX5 cause rhizomelic chondrodysplasia punctata type 5 (Baroy et al. 2015).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P09110-1", "O14832-1", "O00116-1" ], "evidence": [ { "id": "R-HSA-9033240", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033240" } ] }, { "id": "R-HSA-9033506", "name": "TYSND1 cleaves AGPS", "equation": "", "summary": "The trypsin-like serine-type endopeptidase TYSND1 cleaves AGPS between amino acid residues 58 and 59, yielding AGPS(1-58) and AGPS(59-658) (inferred from mouse homologs). In mice, knockout of TYSND1 causes reduced localization of AGPS to the peroxisome.", "cellular_location": "peroxisomal matrix", "input_participant_list": [ "R-HSA-9033523" ], "output_participant_list": [ "R-HSA-49699", "R-HSA-9033519" ], "enzyme_list": [ "O00116-1", "Q2T9J0-1" ], "evidence": [ { "id": "R-HSA-9033506", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033506" } ] }, { "id": "R-HSA-9033514", "name": "Cargo of PEX5L:PEX7 translocates from the cytosol to the peroxisomal matrix", "equation": "", "summary": "The cargo protein bound to PEX7 is released from PEX7 into the peroxisomal matrix in a reaction that does not require ATP (Purdue et al. 1997, Dodt et al. 2001, Rodrigues et al. 2014, Rodrigues et al. 2015). PEX7 may also be released into the matrix (inferred from yeast in Nair et al. 2004), however later research indicates that PEX7 remains with PEX5L in the peroxisomal membrane (Rodrigues et al. 2015) apparently in a proteinaceous cavity (Dias et al. 2017). 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": [ "P28328-1", "P09110-1", "O14832-1", "O00116-1", "O60683-1" ], "evidence": [ { "id": "R-HSA-9033514", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033514" } ] } ], "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", "participant_name": "PALM [peroxisomal matrix]", "crossref": [ { "id": "C00249", "database": "COMPOUND", "url": "" }, { "id": "15756", "database": "ChEBI", "url": "" }, { "id": "HMDB0000220", "database": "HMDB Metabolite", "url": "" }, { "id": "000006072466", "database": "ZINC", "url": "" }, { "id": "1055", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "8145136", "database": "PubChem Substance", "url": "" }, { "id": "000006072466", "database": "ZINC", "url": "" }, { "id": "8145136", "database": "PubChem Substance", "url": "" }, { "id": "15756", "database": "ChEBI", "url": "" }, { "id": "C00249", "database": "COMPOUND", "url": "" }, { "id": "1055", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0000220", "database": "HMDB Metabolite", "url": "" }, { "id": "15756", "database": "ChEBI", "url": "" }, { "id": "000006072466", "database": "ZINC", "url": "" }, { "id": "8145136", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0000220", "database": "HMDB Metabolite", "url": "" }, { "id": "C00249", "database": "COMPOUND", "url": "" }, { "id": "1055", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "C00249", "database": "COMPOUND", "url": "" }, { "id": "15756", "database": "ChEBI", "url": "" }, { "id": "HMDB0000220", "database": "HMDB Metabolite", "url": "" }, { "id": "000006072466", "database": "ZINC", "url": "" }, { "id": "1055", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "8145136", "database": "PubChem Substance", "url": "" }, { "id": "C00249", "database": "COMPOUND", "url": "" }, { "id": "15756", "database": "ChEBI", "url": "" }, { "id": "HMDB0000220", "database": "HMDB Metabolite", "url": "" }, { "id": "000006072466", "database": "ZINC", "url": "" }, { "id": "1055", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "8145136", "database": "PubChem Substance", "url": "" } ] }, { "participant_id": "R-ALL-390440", "participant_name": "HXOL [peroxisomal matrix]", "crossref": [ { "id": "C00823", "database": "COMPOUND", "url": "" }, { "id": "16125", "database": "ChEBI", "url": "" }, { "id": "000008214519", "database": "ZINC", "url": "" }, { "id": "HMDB0003424", "database": "HMDB Metabolite", "url": "" }, { "id": "16125", "database": "ChEBI", "url": "" }, { "id": "000008214519", "database": "ZINC", "url": "" }, { "id": "C00823", "database": "COMPOUND", "url": "" }, { "id": "HMDB0003424", "database": "HMDB Metabolite", "url": "" }, { "id": "16125", "database": "ChEBI", "url": "" }, { "id": "000008214519", "database": "ZINC", "url": "" }, { "id": "C00823", "database": "COMPOUND", "url": "" }, { "id": "HMDB0003424", "database": "HMDB Metabolite", "url": "" }, { "id": "C00823", "database": "COMPOUND", "url": "" }, { "id": "16125", "database": "ChEBI", "url": "" }, { "id": "HMDB0003424", "database": "HMDB Metabolite", "url": "" }, { "id": "000008214519", "database": "ZINC", "url": "" }, { "id": "C00823", "database": "COMPOUND", "url": "" }, { "id": "16125", "database": "ChEBI", "url": "" }, { "id": "HMDB0003424", "database": "HMDB Metabolite", "url": "" }, { "id": "000008214519", "database": "ZINC", "url": "" } ] }, { "participant_id": "R-HSA-49699", "participant_name": "AGPS [peroxisomal matrix]", "crossref": [ { "id": "HMDBP01542", "database": "HMDB Protein", "url": "" }, { "id": "O00116", "database": "PRO", "url": "" }, { "id": "ENSP00000264167", "database": "Ensembl", "url": "" }, { "id": "ENSG00000018510", "database": "OpenTargets", "url": "" }, { "id": "ENSG00000018510-AGPS", "database": "HPA", "url": "" }, { "id": "O00116", "database": "UniProt", "url": "" }, { "id": "ENSG00000018510", "database": "Ensembl", "url": "" }, { "id": "O00116", "database": "Pharos - Targets", "url": "" }, { "id": "NP_003650.1", "database": "RefSeq", "url": "" }, { "id": "O00116", "database": "GeneCards", "url": "" }, { "id": "ENST00000264167", "database": "Ensembl", "url": "" }, { "id": "15474", "database": "Orphanet", "url": "" } ] }, { "participant_id": "R-HSA-9033519", "participant_name": "AGPS(1-58) [peroxisomal matrix]", "crossref": [ { "id": "HMDBP01542", "database": "HMDB Protein", "url": "" }, { "id": "ENSP00000264167", "database": "Ensembl", "url": "" }, { "id": "O00116", "database": "PRO", "url": "" }, { "id": "O00116", "database": "UniProt", "url": "" }, { "id": "ENSG00000018510", "database": "OpenTargets", "url": "" }, { "id": "ENSG00000018510-AGPS", "database": "HPA", "url": "" }, { "id": "O00116", "database": "GeneCards", "url": "" }, { "id": "15474", "database": "Orphanet", "url": "" }, { "id": "ENST00000264167", "database": "Ensembl", "url": "" }, { "id": "NP_003650.1", "database": "RefSeq", "url": "" }, { "id": "ENSG00000018510", "database": "Ensembl", "url": "" }, { "id": "O00116", "database": "Pharos - Targets", "url": "" } ] }, { "participant_id": "R-HSA-9033523", "participant_name": "AGPS(1-658) [peroxisomal matrix]", "crossref": [ { "id": "O00116", "database": "UniProt", "url": "" }, { "id": "NP_003650.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000264167", "database": "Ensembl", "url": "" }, { "id": "15474", "database": "Orphanet", "url": "" }, { "id": "ENSG00000018510-AGPS", "database": "HPA", "url": "" }, { "id": "ENSG00000018510", "database": "Ensembl", "url": "" }, { "id": "HMDBP01542", "database": "HMDB Protein", "url": "" }, { "id": "ENST00000264167", "database": "Ensembl", "url": "" }, { "id": "ENSG00000018510", "database": "OpenTargets", "url": "" }, { "id": "O00116", "database": "Pharos - Targets", "url": "" }, { "id": "O00116", "database": "PRO", "url": "" }, { "id": "O00116", "database": "GeneCards", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O00116", "gene_name": "AGPS", "activity": [ { "ec_number": "2.5.1.26", "activity": "a 1-acylglycerone 3-phosphate + a long chain fatty alcohol = 1-O-alkylglycerone 3-phosphate + a long-chain fatty acid + H(+).", "evidence": [ { "id": "O00116", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00116" } ] }, { "ec_number": "2.5.1.26", "activity": "", "evidence": [ { "id": "O00116", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00116" } ] } ] }, { "uniprot_ac": "O14832", "gene_name": "PHYH", "activity": [ { "ec_number": "1.14.11.18", "activity": "2-oxoglutarate + O2 + phytanoyl-CoA = 2-hydroxyphytanoyl-CoA + CO2 + succinate.", "evidence": [ { "id": "O14832", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14832" } ] }, { "ec_number": "1.14.11.18", "activity": "", "evidence": [ { "id": "O14832", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14832" } ] } ] }, { "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": "O60683", "gene_name": "PEX10", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O60683", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60683" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O60683", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60683" } ] } ] }, { "uniprot_ac": "O96759", "gene_name": "eapA", "activity": [ { "ec_number": "2.5.1.26", "activity": "a 1-acylglycerone 3-phosphate + a long chain fatty alcohol = 1-O-alkylglycerone 3-phosphate + a long-chain fatty acid + H(+).", "evidence": [ { "id": "O96759", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96759" } ] }, { "ec_number": "2.5.1.26", "activity": "", "evidence": [ { "id": "O96759", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O96759" } ] } ] }, { "uniprot_ac": "P09110", "gene_name": "ACAA1", "activity": [ { "ec_number": "2.3.1.9", "activity": "2 acetyl-CoA = acetoacetyl-CoA + CoA.", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] }, { "ec_number": "2.3.1.9", "activity": "", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] }, { "ec_number": "2.3.1.16", "activity": "acetyl-CoA + an acyl-CoA = a 3-oxoacyl-CoA + CoA.", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] }, { "ec_number": "2.3.1.155", "activity": "acetyl-CoA + tetradecanoyl-CoA = 3-oxohexadecanoyl-CoA + CoA.", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] }, { "ec_number": "2.3.1.16", "activity": "", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] } ] }, { "uniprot_ac": "P28328", "gene_name": "PEX2", "activity": [ { "ec_number": "2.3.2.36", "activity": "[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-cysteine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-S-ubiquitinyl-L-cysteine.", "evidence": [ { "id": "P28328", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28328" } ] }, { "ec_number": "2.3.2.36", 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