{ "uniprot_canonical_ac": "P0C024-1", "uniprot_ac": "P0C024", "uniprot_id": "NUDT7_HUMAN", "mass": { "chemical_mass": 26942.0, "monoisotopic_mass": 26942.0 }, "refseq": { "ac": "NP_001099133", "name": "peroxisomal coenzyme A diphosphatase NUDT7 isoform 1", "summary": "The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099133" }, "gene_names": [ { "name": "NUDT7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0C024", "id": "P0C024" }, { "name": "NUDT7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099133", "id": "NP_001099133" } ], "protein_names": [ { "name": "Peroxisomal coenzyme A diphosphatase NUDT7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0C024" }, { "name": "3.6.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0C024" }, { "name": "Nucleoside diphosphate-linked moiety X motif 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0C024" }, { "name": "Nudix motif 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0C024" }, { "name": "peroxisomal coenzyme A diphosphatase NUDT7 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099133", "id": "NP_001099133" }, { "name": "peroxisomal coenzyme A diphosphatase NUDT7; nudix (nucleoside diphosphate linked moiety X)-type motif 7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099133", "id": "NP_001099133" } ], "function": [ { "annotation": "Fatty acyl-coenzyme A (CoA) diphosphatase that hydrolyzes fatty acyl-CoA to yield acyl-4'-phosphopantetheine and adenosine 3',5'-bisphosphate (By similarity). Cleaves CoA, CoA esters and oxidized CoA with similar efficiencies (By similarity). Preferentially hydrolyzes medium-chain acyl-CoAs and bile acid-CoAs (By similarity). Has no activity toward NDP-sugars, CDP-alcohols, (deoxy)nucleoside 5'-triphosphates, nucleoside 5'-di or monophosphates, diadenosine polyphosphates, NAD, NADH, NADP, NADPH or thymidine-5'-monophospho-p-nitrophenyl ester (By similarity). May be required to eliminate oxidized CoA from peroxisomes, or regulate CoA and acyl-CoA levels in this organelle in response to metabolic demand (By similarity). Does not play a role in U8 snoRNA decapping activity (By similarity). Binds U8 snoRNA (By similarity). Exhibits decapping activity towards dpCoA-capped RNAs in vitro (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024#function" }, { "database": "UniProtKB", "id": "Q99P30", "url": "https://www.uniprot.org/uniprot/Q99P30#function" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001099133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099133" }, { "database": "PubMed", "id": "19844255", "url": "https://glygen.org/publication/PubMed/19844255" } ] }, { "annotation": "The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_001099133", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001099133" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "82.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140876" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "65.97", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000140876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140876" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "79.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140876" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "84.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140876" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140876" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "79.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140876" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "83.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140876" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140876" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "79.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140876" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "78.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000140876", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000140876" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P0C024", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C024" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C024" } ], "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": [ 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SV=1 CANONICAL=P0C024-1" }, "locus": { "chromosome": "16", "start_pos": 77741591, "end_pos": 77722583, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000563839.1", "url": "https://www.ensembl.org/id/ENST00000563839.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000454617.1", "url": "https://www.ensembl.org/id/ENSP00000454617.1" } ] } }, { "isoform_ac": "H3BRQ8-1", "url": "", "sequence": { "sequence": "MSRLGLPEEPVRNSLLDDAKARLRKYDIGGKYSHLPYNKYSVLLPLVAKEGKLHLLFTVRSEKLRRAPGEVCFPGGKRDPTDMDDAATALREAQEEVGLRPHQVEVVCCLVPCLIDVRVS", "length": 120, "header": "tr|H3BRQ8-1|NUDT7_HUMAN Computationally mapped isoform of Peroxisomal coenzyme A diphosphatase NUDT7 OS=Homo sapiens OX=9606 GN=NUDT7 PE=1 SV=1 CANONICAL=P0C024-1" }, "locus": { "chromosome": "16", "start_pos": 77735998, "end_pos": 77722583, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568787.5", "url": "https://www.ensembl.org/id/ENST00000568787.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000456363.1", "url": "https://www.ensembl.org/id/ENSP00000456363.1" } ] } }, { "isoform_ac": "P0C024-1", "url": "", "sequence": { "sequence": "MSRLGLPEEPVRNSLLDDAKARLRKYDIGGKYSHLPYNKYSVLLPLVAKEGKLHLLFTVRSEKLRRAPGEVCFPGGKRDPTDMDDAATALREAQEEVGLRPHQVEVVCCLVPCLIDTDTLITPFVGLIDHNFQAQPNPAEVKDVFLVPLAYFLHPQVHDQHYVTRLGHRFINHIFEYTNPEDGVTYQIKGMTANLAVLVAFIILEKKPTFEVQFNLNDVLASSEELFLKVHKKATSRL", "length": 238, "header": "sp|P0C024-1|NUDT7_HUMAN Isoform 1 of Peroxisomal coenzyme A diphosphatase NUDT7 OS=Homo sapiens OX=9606 GN=NUDT7 PE=1 SV=1 CANONICAL=P0C024-1" }, "locus": { "chromosome": "16", "start_pos": 77741947, "end_pos": 77722583, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000268533.9", "url": "https://www.ensembl.org/id/ENST00000268533.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000268533.5", "url": "https://www.ensembl.org/id/ENSP00000268533.5" } ] } }, { "isoform_ac": "P0C024-2", "url": "", "sequence": { "sequence": "MSRLGLPEEPVRNSLLDDAKARLRKYDIGGKYSHLPYNKYSVLLPLVAKEGKLHLLFTVRSEKTDTLITPFVGLIDHNFQAQPNPAEVKDVFLVPLAYFLHPQVHDQHYVTRLGHRFINHIFEYTNPEDGVTYQIKGMTANLAVLVAFIILEKKPTFEVQFNLNDVLASSEELFLKVHKKATSRL", "length": 185, "header": "sp|P0C024-2|NUDT7_HUMAN Isoform 2 of Peroxisomal coenzyme A diphosphatase NUDT7 OS=Homo sapiens OX=9606 GN=NUDT7 PE=1 SV=1 CANONICAL=P0C024-1" }, "locus": { "chromosome": "16", "start_pos": 77741947, "end_pos": 77722583, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000437314.3", "url": "https://www.ensembl.org/id/ENST00000437314.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000387707.3", "url": "https://www.ensembl.org/id/ENSP00000387707.3" } ] } }, { "isoform_ac": "P0C024-3", "url": "", "sequence": { "sequence": "MSRLGLPEEPVRNSLLDDAKARLRKYDIGGKYSHLPYNKYSVLLPLVAKEGKLHLLFTVRSEKLRRAPGEVCFPGGKRDPTDMDDAATALREAQEEVGLRPHQVEVVCCLVPCLIDRWGSRYVDEAGLELLASSDPPTSASQSAGITDRYIDNSICGFNRPQLPGPAESC", "length": 170, "header": "sp|P0C024-3|NUDT7_HUMAN Isoform 3 of Peroxisomal coenzyme A diphosphatase NUDT7 OS=Homo sapiens OX=9606 GN=NUDT7 PE=1 SV=1 CANONICAL=P0C024-1" }, "locus": { "chromosome": "16", "start_pos": 77741649, "end_pos": 77722583, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000564085.5", "url": "https://www.ensembl.org/id/ENST00000564085.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000457566.1", "url": "https://www.ensembl.org/id/ENSP00000457566.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "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": "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": "Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Jones JM, Morrell JC, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-390918", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390918" } ], "reference": [ { "type": "PubMed", "id": "10777549", "url": "https://glygen.org/publication/PubMed/10777549" } ] }, { "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": "The mouse Nudt7 gene encodes a peroxisomal nudix hydrolase specific for coenzyme A and its derivatives.", "journal": "Biochem. J.", "date": "2001", "authors": "Gasmi L, McLennan AG", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" }, { "database": "Reactome", "id": "R-HSA-390918", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390918" } ], "reference": [ { "type": "PubMed", "id": "11415433", "url": "https://glygen.org/publication/PubMed/11415433" } ] }, { "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": "Proteomic analysis of mouse kidney peroxisomes: identification of RP2p as a peroxisomal nudix hydrolase with acyl-CoA diphosphatase activity.", "journal": "The Biochemical journal", "date": "2006", "authors": "Ofman R, Speijer D, Leen R, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-390918", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390918" } ], "reference": [ { "type": "PubMed", "id": "16185196", "url": "https://glygen.org/publication/PubMed/16185196" } ] }, { "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": "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", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "18712838", "url": "https://glygen.org/publication/PubMed/18712838" } ] }, { "title": "The nudix hydrolase 7 is an Acyl-CoA diphosphatase involved in regulating peroxisomal coenzyme A homeostasis.", "journal": "Journal of biochemistry", "date": "2008", "authors": "Reilly SJ, Tillander V, Ofman R, Alexson SE, Hunt MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-390918", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390918" } ], "reference": [ { "type": "PubMed", "id": "18799520", "url": "https://glygen.org/publication/PubMed/18799520" } ] }, { "title": "Structural basis for competitive interactions of Pex14 with the import receptors Pex5 and Pex19.", "journal": "The EMBO journal", "date": "2009", "authors": "Neufeld C, Filipp FV, Simon B, Neuhaus A, Schuller N, David C, Kooshapur H, Madl T, Erdmann R, Schliebs W, Wilmanns M, Sattler M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "19197237", "url": "https://glygen.org/publication/PubMed/19197237" } ] }, { "title": "Properties of the ubiquitin-pex5p thiol ester conjugate.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Grou CP, Carvalho AF, Pinto MP, Huybrechts SJ, Sa-Miranda C, Fransen M, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "19208625", "url": "https://glygen.org/publication/PubMed/19208625" } ] }, { "title": "Solution structure of human Pex5.Pex14.PTS1 protein complexes obtained by small angle X-ray scattering.", "journal": "The Journal of biological chemistry", "date": "2009", 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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": "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": "https://glygen.org/publication/PubMed/9653144" } ] }, { "title": "An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes.", "journal": "Human molecular genetics", "date": "1998", "authors": "Braverman N, Dodt 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": "9668159", "url": "https://glygen.org/publication/PubMed/9668159" } ] }, { "title": "The difference in recognition of terminal tripeptides as peroxisomal targeting signal 1 between yeast and human is due to different affinities of their receptor Pex5p to the cognate signal and to residues adjacent to it.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Lametschwandtner G, Brocard C, Fransen M, Van Veldhoven P, Berger J, Hartig A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "9837948", "url": "https://glygen.org/publication/PubMed/9837948" } ] } ], "pathway": [ { "id": "hsa:283927", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:283927", "resource": "KEGG Pathway" }, { "id": "R-HSA-390918", "name": "Peroxisomal lipid metabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-390918", "resource": "Reactome", "description": "Peroxisomal lipid metabolism" }, { "id": "R-HSA-9033241", "name": "Peroxisomal protein import", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241", "resource": "Reactome", "description": "Peroxisomal protein import" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZV74-1", "protein_name": "Nudix hydrolase 7", "gene_name": "Nudt7", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MRVRVRTRCFPKSPAACRKGTAGPMPRPCGLQESVRNNLIDDAKARLKKFDVGTRYSHLSPSKYSVLLPLLARGEKLYLLFTVRSDKRFFHINIPGSTSHSTLITESTWMAIGEGMDQEKCKLRRAPGEVCFPGGKRDPVDADDTATALREAQEEVGLHPHQVEVVSHLVPYFINNNDLVTPVVGFLDPDFQAQPNADEVKDVFLVPLDYFLCPQVYYQSHFTHSGYHFVLHCFEYTDPETGSKYLIKGMTSKLAVLAALIIFEKSPSFETEFDLHDLIPSCEKTFLHRCSSSKL", "length": 295 }, "evidence": [ { "id": "P0C024", "url": "https://omabrowser.org/oma/group/P0C024/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q99P30-1", "protein_name": "Peroxisomal coenzyme A diphosphatase NUDT7", "gene_name": "Nudt7", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSRPCGLPEPVRNNLIDDAKARLRKSDVGTRYSHLSSNKFSVLVPLLARGGKLYLMFTVRSDKLKREPGEVCFPGGKRDPVDTDDTATALREAQEEVGLHPHQVEVVSHLVPYVFDNDALVTPVVGFLDHNFQAQPNADEVKEVFFVPLDYFLHPQVYYQKQITQSGRDFIMHCFEYKDPETGVNYLIQGMTSKLAVLVALIILEQSPAFKIDFDLHDLIPSCERTFLWRYSLSKL", "length": 236 }, "evidence": [ { "id": "45931189", "url": "http://www.informatics.jax.org/homology/45931189", "database": "MGI" }, { "id": "P0C024", "url": "https://omabrowser.org/oma/group/P0C024/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "magnesium ion binding", "id": "GO:0000287", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000287", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" }, { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" }, { "name": "CoA pyrophosphatase activity", "id": "GO:0010945", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010945", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" }, { "name": "snoRNA binding", "id": "GO:0030515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030515", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 10, "go_terms": [ { "name": "nucleoside diphosphate metabolic process", "id": "GO:0009132", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009132", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" }, { "name": "brown fat cell differentiation", "id": "GO:0050873", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050873", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" }, { "name": "medium-chain fatty-acyl-CoA catabolic process", "id": "GO:0036114", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036114", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" }, { "name": "malonyl-CoA catabolic process", "id": "GO:2001294", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001294", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" }, { "name": "coenzyme A catabolic process", "id": "GO:0015938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015938", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" }, { "name": "acetyl-CoA catabolic process", "id": "GO:0046356", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046356", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" }, { "name": "butyryl-CoA catabolic process", "id": "GO:0044580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044580", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" }, { "name": "propionyl-CoA catabolic process", "id": "GO:1902859", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902859", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" }, { "name": "succinyl-CoA catabolic process", "id": "GO:1901289", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901289", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" }, { "name": "propionyl-CoA metabolic process", "id": "GO:1902858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902858", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P0C024", "url": "https://www.uniprot.org/uniprot/P0C024" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "49976", "name": "", "equation": "butanoyl-CoA + H2O = adenosine 3',5'-bisphosphate + 2 H(+) + S-butanoyl-4'-phosphopantetheine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6AYD9-1", "P0C024-1", "A8MXV4-1", "Q8WV74-1", "P11930-1", "Q9CR24-1", "Q99P30-1" ], "evidence": [ { "id": "49976", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/49976" } ] }, { "id": "49980", "name": "", "equation": "H2O + hexanoyl-CoA = adenosine 3',5'-bisphosphate + 2 H(+) + hexanoyl-4'-phosphopantetheine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6AYD9-1", "P0C024-1", "A8MXV4-1", "Q8WV74-1", "P11930-1", "Q9CR24-1", "Q99P30-1" ], "evidence": [ { "id": "49980", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/49980" } ] }, { "id": "50016", "name": "", "equation": "H2O + octanoyl-CoA = adenosine 3',5'-bisphosphate + 2 H(+) + S-octanoyl-4'-phosphopantetheine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6AYD9-1", "P0C024-1", "A8MXV4-1", "Q8WV74-1", "P11930-1", "Q9CR24-1", "Q99P30-1" ], "evidence": [ { "id": "50016", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50016" } ] }, { "id": "50020", "name": "", "equation": "decanoyl-CoA + H2O = adenosine 3',5'-bisphosphate + decanoyl-4'-phosphopantetheine + 2 H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P0C024-1", "Q99P30-1" ], "evidence": [ { "id": "50020", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50020" } ] }, { "id": "50024", "name": "", "equation": "dodecanoyl-CoA + H2O = adenosine 3',5'-bisphosphate + 2 H(+) + S-dodecanoyl-4'-phosphopantetheine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6AYD9-1", "P0C024-1", "A8MXV4-1", "P11930-1", "Q99P30-1" ], "evidence": [ { "id": "50024", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50024" } ] }, { "id": "50028", "name": "", "equation": "H2O + tetradecanoyl-CoA = adenosine 3',5'-bisphosphate + 2 H(+) + tetradecanoyl-4'-phosphopantetheine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6AYD9-1", "P0C024-1", "A8MXV4-1", "P11930-1", "Q99P30-1" ], "evidence": [ { "id": "50028", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50028" } ] }, { "id": "50036", "name": "", "equation": "choloyl-CoA + H2O = adenosine 3',5'-bisphosphate + 2 H(+) + S-choloyl-4'-phosphopantetheine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6AYD9-1", "P0C024-1", "A8MXV4-1", "P11930-1", "Q99P30-1" ], "evidence": [ { "id": "50036", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50036" } ] }, { "id": "50040", "name": "", "equation": "3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA + H2O = 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-4'-phosphopantetheine + adenosine 3',5'-bisphosphate + 2 H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P0C024-1", "Q99P30-1" ], "evidence": [ { "id": "50040", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50040" } ] }, { "id": "64988", "name": "", "equation": "CoA + H2O = (R)-4'-phosphopantetheine + adenosine 3',5'-bisphosphate + 2 H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6AYD9-1", "P0C024-1", "A8MXV4-1", "Q8WV74-1", "P11930-1", "Q9CR24-1", "Q99P30-1" ], "evidence": [ { "id": "64988", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/64988" } ] }, { "id": "64992", "name": "", "equation": "acetyl-CoA + H2O = adenosine 3',5'-bisphosphate + 2 H(+) + S-acetyl-4'-phosphopantetheine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P0C024-1", "Q8WV74-1", "Q9CR24-1", "Q99P30-1" ], "evidence": [ { "id": "64992", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/64992" } ] }, { "id": "67464", "name": "", "equation": "H2O + propanoyl-CoA = adenosine 3',5'-bisphosphate + 2 H(+) + propanoyl-4'-phosphopantetheine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6AYD9-1", "A8MXV4-1", "P0C024-1", "Q8WV74-1", "P11930-1", "Q99P30-1", "Q9CR24-1" ], "evidence": [ { "id": "67464", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/67464" } ] }, { "id": "67468", "name": "", "equation": "H2O + malonyl-CoA = adenosine 3',5'-bisphosphate + 2 H(+) + malonyl-4'-phosphopantetheine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6AYD9-1", "A8MXV4-1", "P0C024-1", "Q8WV74-1", "P11930-1", "Q99P30-1", "Q9CR24-1" ], "evidence": [ { "id": "67468", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/67468" } ] }, { "id": "67472", "name": "", "equation": "H2O + succinyl-CoA = adenosine 3',5'-bisphosphate + 2 H(+) + succinyl-4'-phosphopantetheine", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6AYD9-1", "A8MXV4-1", "P0C024-1", "Q8WV74-1", "P11930-1", "Q99P30-1", "Q9CR24-1" ], "evidence": [ { "id": "67472", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/67472" } ] }, { "id": "67592", "name": "", "equation": "a 5'-end CoA-ribonucleoside in mRNA + H2O = (R)-4'-phosphopantetheine + a 5'-end phospho-adenosine-phospho-ribonucleoside in mRNA + 2 H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q6PEC0-1", "Q6AYD9-1", "A8MXV4-1", "P50583-1", "P0C024-1", "Q8WV74-1", "Q9NV35-1", "Q96DE0-1", "Q8BG93-1", "P56380-1", "P11930-1", "Q6P3D0-1", "Q99P30-1", "Q9CR24-1" ], "evidence": [ { "id": "67592", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/67592" } ] }, { "id": "R-HSA-6809354", "name": "NUDT7 hydrolyses CoA-SH to 3',5'-ADP and PPANT", "equation": "", "summary": "Coenzyme A (CoASH) is a necessary cofactor for the oxidation of lipids in peroxisomes. Peroxisomal coenzyme A diphosphatase (NUDT7) mediates the cleavage of CoA (and CoA esters and oxidised CoA) to produce 3',5'-ADP and 4'-phosphopantetheine (PPANT) and is suggested to be involved in the regulation of peroxisomal CoASH levels. Human NUDT7 activity is inferred from mouse Nudt7 activity (Gasmi et al. 2001, Reilly et al. 2008).", "cellular_location": "peroxisomal matrix", "input_participant_list": [], "output_participant_list": [ "R-ALL-6809360", "R-ALL-6809358" ], "enzyme_list": [ "P0C024-1" ], "evidence": [ { "id": "R-HSA-6809354", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6809354" } ] }, { "id": "R-HSA-9033233", "name": "PEX5S,L binds cargo proteins containing PTS1", "equation": "", "summary": "It is unclear how the long isoform of PEX5 (PEX5L) and the short isoform of PEX5 (PEX5S) are generated. A current hypothesis suggests alternative mRNA splicing. Both isoforms can bind the peroxisome targeting signal 1 (PTS1) located at the C-terminus of most of the proteins that are targeted to the peroxisomal matrix (Dodt et al. 1995, Fransen et al. 1995, Wiemer et al. 1995, Gatto et al. 2000, Brocard et al. 2003, Gatto et al. 2003, Harper et al. 2003, Ghosh and Berg 2010, Freitas et al. 2011, Okumoto et al. 2011). PTS1 typically contains Ser-Lys-Leu (SKL) at the C-terminus but substantial variation in sequences and affinities for PEX5 are observed and upstream residues can modulate binding to PEX5 (Lametschwandtner et al. 1998, Ghosh and Berg 2010, reviewed in Brocard and Hartig 2006).
A minority of peroxisomal matrix proteins contain PTS2. While the PEX5S isoform binds proteins containing PTS1, the PEX5L isoform binds either proteins containing PTS1 or PEX7 bound to proteins containing PTS2 (Braverman et al. 1998). Some proteins appear to be imported as oligomers, however this is rather inefficient as PEX5 appears to have a preference for monomeric substrates (Otera and Fujiki 2012, Freitas et al. 2011, Freitas et al. 2015, also inferred from mouse homologs). Mutations in PEX5 cause defects in peroxisomal import and comprise complementation group 2 of peroxisomal biogenesis disorders (also called Zellweger spectrum disorders) (Dodt et al. 1995, Wiemer et al. 1995). A specific mutation affecting only the PEX5L isoform is the cause of rhizomelic chondrodysplasia punctate type 5 (Bar\u00f8y et al. 2015).", "cellular_location": "cytosol", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22307-1", "P35914-1", "A8MXV4-1", "Q9NUI1-1", "Q9BTZ2-1", "Q9P0Z9-1", "O15228-1", "Q99489-1", "O14734-1", "P49753-1", "Q8N9L9-1", "P14920-1", "O15254-1", "Q99424-1", "Q15067-1", "Q9UHK6-1", "P04040-1", "P35228-1", "Q9UJM8-1", "Q9UKG9-1", "Q6QHF9-2", "P21549-1", "Q9BY49-1", "Q13011-1", "Q86WA8-1", "P43155-1", "O14975-1", "Q14032-1", "Q9Y2Q3-1", "P14735-1", "P0C024-1", "O75874-1", "Q9NYQ3-1", "Q9UJ83-1", "Q2T9J0-1" ], "evidence": [ { "id": "R-HSA-9033233", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033233" } ] }, { "id": "R-HSA-9033235", "name": "Cargo of PEX5S,L translocates from the cytosol to the peroxisomal matrix", "equation": "", "summary": "After binding the Docking and Translocation Module comprising PEX14, PEX13, PEX2, PEX10 and PEX12 , PEX5S or PEX5L bound to a cargo protein becomes localized to the membrane (Dodt et al. 1995, Wiemer et al. 1995, Alencastre et al. 2009, Francisco et al. 2013, Dias et al. 2017). In a reaction that is not yet fully characterized, the cargo protein is released into the peroxisomal matrix while PEX5S or PEX5L remains in the membrane (Dodt et al. 1995, Wiemer et al. 1995, Alencastre et al. 2009, Franscisco et al. 2013). One model for the reaction hypothesizes that PEX13:PEX14 (associated with PEX2:PEX10:PEX12) forms a barrel in the peroxisomal membrane while PEX5S or PEX5L acts as a plunger to guide the cargo through the barrel (Dias et al. 2017, Francisco et al. 2017). Notably, the reaction does not require a source of energy such as ATP (Oliveira et al. 2003). Mutations in PEX5 cause defects in import of PTS1-containing proteins or PTS2-containing proteins or both (Eberrink et al. 2009, Bar\u00f8y et al. 2015).", "cellular_location": "peroxisomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22307-1", "P35914-1", "A8MXV4-1", "P28328-1", "Q9NUI1-1", "Q9BTZ2-1", "Q9P0Z9-1", "O15228-1", "Q99489-1", "O14734-1", "P49753-1", "Q8N9L9-1", "P14920-1", "O15254-1", "Q99424-1", "Q15067-1", "Q9UHK6-1", "P04040-1", "P35228-1", "Q9UJM8-1", "Q9UKG9-1", "Q6QHF9-2", "P21549-1", "O60683-1", "Q9BY49-1", "Q13011-1", "Q86WA8-1", "P43155-1", "O14975-1", "Q14032-1", "Q9Y2Q3-1", "P14735-1", "P0C024-1", "O75874-1", "Q9NYQ3-1", "Q9UJ83-1", "Q2T9J0-1" ], "evidence": [ { "id": "R-HSA-9033235", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033235" } ] }, { "id": "R-HSA-9033236", "name": "PEX5S,L:Cargo binds PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Module)", "equation": "", "summary": "PEX5S or PEX5L bound to cargo proteins containing PTS1 interacts with the Docking and Translocation Module (PEX13:PEX14:PEX2:PEX10:PEX12) (Gould et al. 1996, Fransen et al. 1998, Will et al. 1999, Neufeld et al. 2009, Shiozawa et al. 2009, Freitas et al. 2011, Francisco et al. 2013, Neufeld et al. 2014, Dias et al. 2017).", "cellular_location": "peroxisomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22307-1", "P35914-1", "A8MXV4-1", "P28328-1", "Q9NUI1-1", "Q9BTZ2-1", "Q9P0Z9-1", "O15228-1", "Q99489-1", "O14734-1", "P49753-1", "Q8N9L9-1", "P14920-1", "O15254-1", "Q99424-1", "Q15067-1", "Q9UHK6-1", "P04040-1", "P35228-1", "Q9UJM8-1", "Q9UKG9-1", "Q6QHF9-2", "P21549-1", "O60683-1", "Q9BY49-1", "Q13011-1", "Q86WA8-1", "P43155-1", "O14975-1", "Q14032-1", "Q9Y2Q3-1", "P14735-1", "P0C024-1", "O75874-1", "Q9NYQ3-1", "Q9UJ83-1", "Q2T9J0-1" ], "evidence": [ { "id": "R-HSA-9033236", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033236" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-6809358", "participant_name": "PPANT [peroxisomal matrix]", "crossref": [ { "id": "61723", "database": "ChEBI", "url": "" }, { "id": "25245905", "database": "PubChem Compound", "url": "" }, { "id": "PANTETHEINE-P", "database": "AraCyc", "url": "" }, { "id": "000012495122", "database": "ZINC", "url": "" }, { "id": "C01134", "database": "COMPOUND", "url": "" }, { "id": "C01134", "database": "KEGG Gene", "url": "" }, { "id": "000012495122", "database": "ZINC", "url": "" }, { "id": "C01134", "database": "KEGG Gene", "url": "" }, { "id": "C01134", "database": "COMPOUND", "url": "" }, { "id": "25245905", "database": "PubChem Compound", "url": "" }, { "id": "PANTETHEINE-P", "database": "AraCyc", "url": "" }, { "id": "61723", "database": "ChEBI", "url": "" } ] }, { "participant_id": "R-ALL-6809360", "participant_name": "3',5'-ADP [peroxisomal matrix]", "crossref": [ { "id": "37240", "database": "ChEBI", "url": "" }, { "id": "37240", "database": "ChEBI", "url": "" }, { "id": "37240", "database": "ChEBI", "url": "" }, { "id": "37240", "database": "ChEBI", "url": "" }, { "id": "37240", "database": "ChEBI", "url": "" }, { "id": "37240", "database": "ChEBI", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A8MXV4", "gene_name": "NUDT19", "activity": [ { "ec_number": "3.6.1.-", "activity": "", "evidence": [ { "id": "A8MXV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8MXV4" } ] } ] }, { "uniprot_ac": "O14734", "gene_name": "ACOT8", "activity": [ { "ec_number": "3.1.2.2", "activity": "H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate.", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.2", "activity": "", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.27", "activity": "(3S)-hydroxy-3-methylglutaryl-CoA + H2O = 3-hydroxy-3-methylglutarate + CoA + H(+).", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.1", "activity": "acetyl-CoA + H2O = acetate + CoA + H(+).", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.11", "activity": "acetoacetyl-CoA + H2O = acetoacetate + CoA + H(+).", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.3", "activity": "H2O + succinyl-CoA = CoA + H(+) + succinate.", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.5", "activity": "(3S)-hydroxy-3-methylglutaryl-CoA + H2O = 3-hydroxy-3-methylglutarate + CoA + H(+).", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.3", "activity": "", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.1", "activity": "", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.5", "activity": "", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.11", "activity": "", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] } ] }, { "uniprot_ac": "O14975", "gene_name": "SLC27A2", "activity": [ { "ec_number": "6.2.1.3", "activity": "a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.-", "activity": "", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.7", "activity": "(25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oate + ATP + CoA = (25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.24", "activity": "3,7,11,15-tetramethylhexadecanoate + ATP + CoA = AMP + diphosphate + phytanoyl-CoA.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.15", "activity": "(5Z,8Z,11Z,14Z)-eicosatetraenoate + ATP + CoA = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.3", "activity": "", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] } ] }, { "uniprot_ac": "O15228", "gene_name": "GNPAT", "activity": [ { "ec_number": "2.3.1.42", "activity": "an acyl-CoA + dihydroxyacetone phosphate = a 1-acylglycerone 3-phosphate + CoA.", "evidence": [ { "id": "O15228", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15228" } ] }, { "ec_number": "2.3.1.42", "activity": "", "evidence": [ { "id": "O15228", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15228" } ] } ] }, { "uniprot_ac": "O15254", "gene_name": "ACOX3", "activity": [ { "ec_number": "1.3.3.6", "activity": "a 2,3-saturated acyl-CoA + O2 = a (2E)-enoyl-CoA + H2O2.", "evidence": [ { "id": "O15254", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15254" } ] }, { "ec_number": "1.3.3.6", "activity": "", "evidence": [ { "id": "O15254", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15254" } ] } ] }, { "uniprot_ac": "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": "O75874", "gene_name": "IDH1", "activity": [ { "ec_number": "1.1.1.42", "activity": "D-threo-isocitrate + NADP(+) = 2-oxoglutarate + CO2 + NADPH.", "evidence": [ { "id": "O75874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75874" } ] }, { "ec_number": "1.1.1.42", "activity": "", "evidence": [ { "id": "O75874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75874" } ] } ] }, { "uniprot_ac": "P04040", "gene_name": "CAT", "activity": [ { "ec_number": "1.11.1.6", "activity": "2 H2O2 = 2 H2O + O2.", "evidence": [ { "id": "P04040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04040" } ] }, { "ec_number": "1.11.1.6", "activity": "", "evidence": [ { "id": "P04040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04040" } ] } ] }, { "uniprot_ac": "P0C024", "gene_name": "NUDT7", "activity": [ { "ec_number": "3.6.1.-", "activity": "", "evidence": [ { "id": "P0C024", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C024" } ] } ] }, { "uniprot_ac": "P11930", "gene_name": "Nudt19", "activity": [ { "ec_number": "3.6.1.-", "activity": "", "evidence": [ { "id": "P11930", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11930" } ] } ] }, { "uniprot_ac": "P14735", "gene_name": "IDE", "activity": [ { "ec_number": "3.4.24.56", "activity": "Degradation of insulin, glucagon and other polypeptides. No action on proteins.", "evidence": [ { "id": "P14735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14735" } ] }, { "ec_number": "3.4.24.56", "activity": "", "evidence": [ { "id": "P14735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14735" } ] } ] }, { "uniprot_ac": "P14920", "gene_name": "DAO", "activity": [ { "ec_number": "1.4.3.3", "activity": "a D-alpha-amino acid + H2O + O2 = a 2-oxocarboxylate + H2O2 + NH4(+).", "evidence": [ { "id": "P14920", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14920" } ] }, { "ec_number": "1.4.3.3", "activity": "", "evidence": [ { "id": "P14920", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14920" } ] } ] }, { "uniprot_ac": "P21549", "gene_name": "AGXT", "activity": [ { "ec_number": "2.6.1.51", "activity": "L-serine + pyruvate = 3-hydroxypyruvate + L-alanine.", "evidence": [ { "id": "P21549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21549" } ] }, { "ec_number": "2.6.1.44", "activity": "2-oxobutanoate + L-alanine = (2S)-2-aminobutanoate + pyruvate.", "evidence": [ { "id": "P21549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21549" } ] }, { "ec_number": "2.6.1.44", "activity": "", "evidence": [ { "id": "P21549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21549" } ] } ] }, { "uniprot_ac": "P22307", "gene_name": "SCP2", "activity": [ { "ec_number": "2.3.1.176", "activity": "4,8,12-trimethyltridecanoyl-CoA + propanoyl-CoA = 3-oxopristanoyl-CoA + CoA.", "evidence": [ { "id": "P22307", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22307" } ] }, { "ec_number": "2.3.1.176", "activity": "", "evidence": [ { "id": "P22307", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22307" } ] }, { "ec_number": "2.3.1.16", "activity": "acetyl-CoA + an acyl-CoA = a 3-oxoacyl-CoA + CoA.", "evidence": [ { "id": "P22307", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22307" } ] }, { "ec_number": "2.3.1.155", "activity": "acetyl-CoA + tetradecanoyl-CoA = 3-oxohexadecanoyl-CoA + CoA.", "evidence": [ { "id": "P22307", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22307" } ] } ] }, { "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", "activity": "", "evidence": [ { "id": "P28328", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28328" } ] }, { "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": "P28328", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28328" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "P28328", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28328" } ] } ] }, { "uniprot_ac": "P35228", "gene_name": "NOS2", "activity": [ { "ec_number": "1.14.13.39", "activity": "H(+) + 2 L-arginine + 3 NADPH + 4 O2 = 4 H2O + 2 L-citrulline + 3 NADP(+) + 2 nitric oxide.", "evidence": [ { "id": "P35228", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35228" } ] }, { "ec_number": "1.14.13.39", "activity": "", "evidence": [ { "id": "P35228", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35228" } ] } ] }, { "uniprot_ac": "P35914", "gene_name": "HMGCL", "activity": [ { "ec_number": "4.1.3.4", "activity": "(3S)-hydroxy-3-methylglutaryl-CoA = acetoacetate + acetyl-CoA.", "evidence": [ { "id": "P35914", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35914" } ] }, { "ec_number": "4.1.3.4", "activity": "", "evidence": [ { "id": "P35914", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35914" } ] } ] }, { "uniprot_ac": "P43155", "gene_name": "CRAT", "activity": [ { "ec_number": "2.3.1.137", "activity": "(R)-carnitine + octanoyl-CoA = CoA + O-octanoyl-(R)-carnitine.", "evidence": [ { "id": "P43155", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43155" } ] }, { "ec_number": "2.3.1.7", "activity": "(R)-carnitine + acetyl-CoA = CoA + O-acetyl-(R)-carnitine.", "evidence": [ { "id": "P43155", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43155" } ] }, { "ec_number": "2.3.1.7", "activity": "", "evidence": [ { "id": "P43155", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43155" } ] }, { "ec_number": "2.3.1.137", "activity": "", "evidence": [ { "id": "P43155", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43155" } ] } ] }, { "uniprot_ac": "P49753", "gene_name": "ACOT2", "activity": [ { "ec_number": "3.1.2.2", "activity": "H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate.", "evidence": [ { "id": "P49753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49753" } ] }, { "ec_number": "3.1.2.2", "activity": "", "evidence": [ { "id": "P49753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49753" } ] } ] }, { "uniprot_ac": "P50583", "gene_name": "NUDT2", "activity": [ { "ec_number": "3.6.1.17", "activity": "H2O + P(1),P(4)-bis(5'-guanosyl) tetraphosphate = GMP + GTP + 2 H(+).", "evidence": [ { "id": "P50583", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50583" } ] }, { "ec_number": "3.6.1.17", "activity": "", "evidence": [ { "id": "P50583", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P50583" } ] } ] }, { "uniprot_ac": "P56380", "gene_name": "Nudt2", "activity": [ { "ec_number": "3.6.1.17", "activity": "H2O + P(1),P(4)-bis(5'-guanosyl) tetraphosphate = GMP + GTP + 2 H(+).", "evidence": [ { "id": "P56380", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P56380" } ] }, { "ec_number": "3.6.1.17", "activity": "", "evidence": [ { "id": "P56380", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P56380" } ] } ] }, { "uniprot_ac": "Q13011", "gene_name": "ECH1", "activity": [ { "ec_number": "5.3.3.-", "activity": "", "evidence": [ { "id": "Q13011", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13011" } ] } ] }, { "uniprot_ac": "Q14032", "gene_name": "BAAT", "activity": [ { "ec_number": "3.1.2.2", "activity": "H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate.", "evidence": [ { "id": "Q14032", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14032" } ] }, { "ec_number": "3.1.2.27", "activity": "(3S)-hydroxy-3-methylglutaryl-CoA + H2O = 3-hydroxy-3-methylglutarate + CoA + H(+).", "evidence": [ { "id": "Q14032", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14032" } ] }, { "ec_number": "2.3.1.65", "activity": "choloyl-CoA + glycine = CoA + glycocholate + H(+).", "evidence": [ { "id": "Q14032", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14032" } ] }, { "ec_number": "2.3.1.65", "activity": "", "evidence": [ { "id": "Q14032", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14032" } ] } ] }, { "uniprot_ac": "Q15067", "gene_name": "ACOX1", "activity": [ { "ec_number": "1.3.3.6", "activity": "a 2,3-saturated acyl-CoA + O2 = a (2E)-enoyl-CoA + H2O2.", "evidence": [ { "id": "Q15067", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15067" } ] }, { "ec_number": "1.3.3.6", "activity": "", "evidence": [ { "id": "Q15067", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15067" } ] } ] }, { "uniprot_ac": "Q2T9J0", "gene_name": "TYSND1", "activity": [ { "ec_number": "3.4.21.-", "activity": "", 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