{ "uniprot_canonical_ac": "O14832-1", "uniprot_ac": "O14832", "uniprot_id": "PAHX_HUMAN", "mass": { "chemical_mass": 38538.0, "monoisotopic_mass": 38538.0 }, "refseq": { "ac": "NP_001032626", "name": "phytanoyl-CoA dioxygenase, peroxisomal isoform b", "summary": "This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032626" }, "gene_names": [ { "name": "PHYH", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14832", "id": "O14832" }, { "name": "LN1; LNAP1; PAHX; PHYH1; RD", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032626", "id": "NP_001032626" }, { "name": "PAHX", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14832", "id": "O14832" }, { "name": "PHYH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032626", "id": "NP_001032626" } ], "protein_names": [ { "name": "Phytanoyl-CoA dioxygenase, peroxisomal", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14832" }, { "name": "1.14.11.18", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14832" }, { "name": "PhyH", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14832" }, { "name": "Phytanic acid oxidase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14832" }, { "name": "Phytanoyl-CoA alpha-hydroxylase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14832" }, { "name": "phytanoyl-CoA 2 oxoglutarate dioxygenase; phytanic acid oxidase; phytanoyl-CoA alpha-hydroxylase; phytanoil-CoA alpha hydroxylase; phytanoyl-CoA dioxygenase, peroxisomal", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032626", "id": "NP_001032626" }, { "name": "phytanoyl-CoA dioxygenase, peroxisomal isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032626", "id": "NP_001032626" } ], "function": [ { "annotation": "Catalyzes the 2-hydroxylation of not only racemic phytanoyl-CoA and the isomers of 3-methylhexadecanoyl-CoA, but also a variety of other mono-branched 3-methylacyl-CoA esters (with a chain length of at least seven carbon atoms) and straight-chain acyl-CoA esters (with a chain length longer than four carbon atoms) (PubMed:9326939, PubMed:10744784, PubMed:12031666, PubMed:12923223). Does not hydroxylate long and very long straight chain acyl-CoAs or 2-methyl- and 4-methyl-branched acyl-CoAs (PubMed:10744784, PubMed:12923223).", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832#function" }, { "database": "PubMed", "id": "9326939", "url": "https://glygen.org/publication/PubMed/9326939" }, { "database": "PubMed", "id": "12923223", "url": "https://glygen.org/publication/PubMed/12923223" }, { "database": "PubMed", "id": "12031666", "url": "https://glygen.org/publication/PubMed/12031666" }, { "database": "PubMed", "id": "10744784", "url": "https://glygen.org/publication/PubMed/10744784" } ] }, { "annotation": "Demonstrate that both unprocessed and processed forms are able to hydroxylate a range of CoA derivatives; site-directed mutagenesis was used to support proposals for the identity of the iron binding istes of PAHX", "evidence": [ { "database": "RefSeq", "id": "NP_001032626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032626" }, { "database": "PubMed", "id": "15930519", "url": "https://glygen.org/publication/PubMed/15930519" } ] }, { "annotation": "Prognostic role of PHYH for overall survival (OS) in clear cell renal cell carcinoma (ccRCC). Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001032626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032626" }, { "database": "PubMed", "id": "33468235", "url": "https://glygen.org/publication/PubMed/33468235" } ] }, { "annotation": "This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001032626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032626" } ] } ], "disease": [ { "disease_id": "DOID:10582", "recommended_name": { "id": "DOID:10582", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10582", "name": "Refsum disease", "description": "A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues." }, "synonyms": [ { "id": "DOID:10582", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10582", "name": "Heredopathia atactica polyneuritiformis", "description": "" }, { "id": "DOID:10582", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10582", "name": "HMSN type IV", "description": "" }, { "id": "DOID:10582", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10582", "name": "HSMN IV", "description": "" }, { "id": "DOID:10582", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10582", "name": "Refsum's disease", "description": "" }, { "id": "DOID:10582", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10582", "name": "adult Refsum disease", "description": "" }, { "id": "DOID:10582", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10582", "name": "classic Refsum disease", "description": "" }, { "id": "DOID:10582", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10582", "name": "phytanic acid oxidase deficiency", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "adult Refsum disease", "description": "A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues." }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "HMSN 4", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "HMSN type IV", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "HSMN IV", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "Refsum disease", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "Refsum disease, adult, 1", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "Refsum disease, classic", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "Refsum's disease", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "adult Refsum disease", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "adult Refsum disease due to PHYH", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "classic Refsum disease", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "hereditary motor and sensory neuropathy 4", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "hereditary motor and sensory neuropathy type 4", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "hereditary sensory and motor neuropathy type 4", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "heredopathia atactica polyneuritiformis", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "hypertrophic neuropathy of Refsum", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "phytanic acid oxidase deficiency", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "phytanic-CoA hydroxylase deficiency", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "DOC 11 (phytanic acid type)", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "RDPA", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "Refsum disease with increased pipecolic acidemia", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "disorder of cornification 11 (phytanic acid type)", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "adult Refsum disease", "description": "A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues." }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "HMSN 4", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "HMSN type IV", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "HSMN IV", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "Refsum disease", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "Refsum disease, adult, 1", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "Refsum disease, classic", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "Refsum's disease", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "adult Refsum disease", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "adult Refsum disease due to PHYH", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "classic Refsum disease", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "hereditary motor and sensory neuropathy 4", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "hereditary motor and sensory neuropathy type 4", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "hereditary sensory and motor neuropathy type 4", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "heredopathia atactica polyneuritiformis", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "hypertrophic neuropathy of Refsum", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "phytanic acid oxidase deficiency", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "phytanic-CoA hydroxylase deficiency", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "DOC 11 (phytanic acid type)", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "RDPA", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "Refsum disease with increased pipecolic acidemia", "description": "" }, { "id": "MONDO:0009958", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009958", "name": "disorder of cornification 11 (phytanic acid type)", "description": "" }, { "id": "MIM:266500", "resource": "MIM", "url": "https://www.omim.org/entry/266500", "name": "Refsum disease", "description": "Refsum disease" } ], "evidence": [ { "id": "266500", "database": "MIM", "url": "https://www.omim.org/entry/266500" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "97.8", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000107537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107537" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "79.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000107537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107537" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000107537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107537" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "78.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000107537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107537" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000107537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107537" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.36", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000107537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107537" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "93.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000107537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107537" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000107537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107537" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "93.43", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000107537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107537" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "84.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000107537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107537" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "97.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000107537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107537" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "87.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000107537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107537" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000107537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000107537" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O14832", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14832" } ], "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", 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"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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O14832", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14832" } ], "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": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O14832", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14832" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14832", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14832" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://www.uniprot.org/uniprot/O14832-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14832-2", "url": "https://www.uniprot.org/uniprot/O14832-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQRFRNEFEKICRKEVKPLGLTVMRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL", "length": 338, "header": "sp|O14832-1|PAHX_HUMAN Isoform 1 of Phytanoyl-CoA dioxygenase, peroxisomal OS=Homo sapiens OX=9606 GN=PHYH PE=1 SV=1 CANONICAL=O14832-1" }, "isoforms": [ { "isoform_ac": "B1ALH6-1", "url": "", "sequence": { "sequence": 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"MRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRK", "length": 176, "header": "tr|C9IYS5-1|PAHX_HUMAN Computationally mapped isoform of Phytanoyl-CoA dioxygenase, peroxisomal OS=Homo sapiens OX=9606 GN=PHYH PE=1 SV=1 CANONICAL=O14832-1" }, "locus": { "chromosome": "10", "start_pos": 13294541, "end_pos": 13283690, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453759.6", "url": "https://www.ensembl.org/id/ENST00000453759.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000412525.2", "url": "https://www.ensembl.org/id/ENSP00000412525.2" } ] } }, { "isoform_ac": "C9JR86-1", "url": "", "sequence": { "sequence": "MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQRFRNEFEKICRKEVKPLGLTVMRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGNCKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVV", "length": 210, "header": "tr|C9JR86-1|PAHX_HUMAN Computationally mapped isoform of Phytanoyl-CoA dioxygenase, peroxisomal OS=Homo sapiens OX=9606 GN=PHYH PE=1 SV=8 CANONICAL=O14832-1" }, "locus": { "chromosome": "10", "start_pos": 13300042, "end_pos": 13288414, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000479604.1", "url": "https://www.ensembl.org/id/ENST00000479604.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000420117.1", "url": "https://www.ensembl.org/id/ENSP00000420117.1" } ] } }, { "isoform_ac": "O14832-1", "url": "", "sequence": { "sequence": "MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIKNLVPDADIQRFRNEFEKICRKEVKPLGLTVMRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL", "length": 338, "header": "sp|O14832-1|PAHX_HUMAN Isoform 1 of Phytanoyl-CoA dioxygenase, peroxisomal OS=Homo sapiens OX=9606 GN=PHYH PE=1 SV=1 CANONICAL=O14832-1" }, "locus": { "chromosome": "10", "start_pos": 13300042, "end_pos": 13278304, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000263038.9", "url": "https://www.ensembl.org/id/ENST00000263038.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000263038.4", "url": "https://www.ensembl.org/id/ENSP00000263038.4" } ] } }, { "isoform_ac": "O14832-2", "url": "", "sequence": { "sequence": "MRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEILKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLPGTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISCHFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL", "length": 238, "header": "sp|O14832-2|PAHX_HUMAN Isoform 2 of Phytanoyl-CoA dioxygenase, peroxisomal OS=Homo sapiens OX=9606 GN=PHYH PE=1 SV=1 CANONICAL=O14832-1" }, "locus": { "chromosome": "10", "start_pos": 13294541, "end_pos": 13278304, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000396913.6", "url": "https://www.ensembl.org/id/ENST00000396913.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000380121.2", "url": "https://www.ensembl.org/id/ENSP00000380121.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 317, "end_pos": 317, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O14832", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14832" } ], "site_lbl": "Ser317" } ], "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": "Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-CoA alpha-hydroxylase is a new FKBP-associated protein.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1999", "authors": "Chambraud B, Radanyi C, Camonis JH, Rajkowski K, Schumacher M, Baulieu EE", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "reference": [ { "type": "PubMed", "id": "10051602", "url": "https://glygen.org/publication/PubMed/10051602" } ] }, { "title": "Human very-long-chain acyl-CoA synthetase: cloning, topography, and relevance to branched-chain fatty acid metabolism.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Steinberg SJ, Wang SJ, Kim DG, Mihalik SJ, Watkins PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-389599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389599" } ], "reference": [ { "type": "PubMed", "id": "10198260", "url": "https://glygen.org/publication/PubMed/10198260" } ] }, { "title": "Purification, molecular cloning, and expression of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal thiamine pyrophosphate-dependent enzyme that catalyzes the carbon-carbon bond cleavage during alpha-oxidation of 3-methyl-branched fatty acids.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Foulon V, Antonenkov VD, Croes K, Waelkens E, Mannaerts GP, Van Veldhoven PP, Casteels M", "evidence": [ { "database": "Reactome", "id": "R-HSA-389599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389599" } ], "reference": [ { "type": "PubMed", "id": "10468558", "url": "https://glygen.org/publication/PubMed/10468558" } ] }, { "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 of a brain specific protein that associates with a Refsum disease gene product, phytanoyl-CoA alpha-hydroxylase.", "journal": "Brain Res. Mol. Brain Res.", "date": "2000", "authors": "Lee ZH, Kim H, Ahn KY, Seo KH, Kim JK, Bae CS, Kim KK", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "reference": [ { "type": "PubMed", "id": "10686344", "url": "https://glygen.org/publication/PubMed/10686344" } ] }, { "title": "Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.", "journal": "Advances in experimental medicine and biology", "date": "1999", "authors": "Jansen GA, Ferdinandusse S, Hogenhout EM, Verhoeven NM, Jakobs C, Wanders RJ", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "reference": [ { "type": "PubMed", "id": "10709665", "url": "https://glygen.org/publication/PubMed/10709665" } ] }, { "title": "Phytanoyl-CoA hydroxylase: recognition of 3-methyl-branched acyl-coAs and requirement for GTP or ATP and Mg(2+) in addition to its known hydroxylation cofactors.", "journal": "Journal of lipid research", "date": "2000-04", "authors": "Croes K, Foulon V, Casteels M, Van Veldhoven P P, Mannaerts G P", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "reference": [ { "type": "PubMed", "id": "10744784", "url": "https://glygen.org/publication/PubMed/10744784" } ] }, { "title": "Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.", "journal": "Human molecular genetics", "date": "2000", "authors": "Jansen GA, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "reference": [ { "type": "PubMed", "id": "10767344", "url": "https://glygen.org/publication/PubMed/10767344" } ] }, { "title": "Molecular cloning and expression of mammalian peroxisomal trans-2-enoyl-coenzyme A reductase cDNAs.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Das AK, Uhler MD, Hajra AK", "evidence": [ { "database": "Reactome", "id": "R-HSA-389599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389599" } ], "reference": [ { "type": "PubMed", "id": "10811639", "url": "https://glygen.org/publication/PubMed/10811639" } ] }, { "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": "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": "Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease.", "journal": "Human molecular genetics", "date": "2001", "authors": "Mukherji M, Chien W, Kershaw NJ, Clifton IJ, Schofield CJ, Wierzbicki AS, Lloyd MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-389599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389599" } ], "reference": [ { "type": "PubMed", "id": "11555634", "url": "https://glygen.org/publication/PubMed/11555634" } ] }, { "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": "Utilization of sterol carrier protein-2 by phytanoyl-CoA 2-hydroxylase in the peroxisomal alpha oxidation of phytanic acid.", "journal": "Chemistry & biology", "date": "2002-05", "authors": "Mukherji Mridul, Kershaw Nadia J, Schofield Christopher J, Wierzbicki Anthony S, Lloyd Matthew D", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "reference": [ { "type": "PubMed", "id": "12031666", "url": "https://glygen.org/publication/PubMed/12031666" } ] }, { "title": "Identification of human PMP34 as a peroxisomal ATP transporter.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Visser WF, van Roermund CW, Waterham HR, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-389599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389599" } ], "reference": [ { "type": "PubMed", "id": "12445829", "url": "https://glygen.org/publication/PubMed/12445829" } ] }, { "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": "Further studies on the substrate spectrum of phytanoyl-CoA hydroxylase: implications for Refsum disease?", "journal": "Journal of lipid research", "date": "2003-12", "authors": "Foulon Veerle, Asselberghs Stanny, Geens Wendy, Mannaerts Guy P, Casteels Minne, Van Veldhoven Paul P", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "reference": [ { "type": "PubMed", "id": "12923223", "url": "https://glygen.org/publication/PubMed/12923223" } ] }, { "title": "Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).", "journal": "Human mutation", "date": "2004-03", "authors": "Jansen Gerbert A, Waterham Hans R, Wanders Ronald J A", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "reference": [ { "type": "PubMed", "id": "14974078", "url": "https://glygen.org/publication/PubMed/14974078" } ] }, { "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": "Studies on the specificity of unprocessed and mature forms of phytanoyl-CoA 2-hydroxylase and mutation of the iron binding ligands.", "journal": "Journal of lipid research", "date": "2005", "authors": "Searls T, Butler D, Chien W, Mukherji M, Lloyd MD, Schofield CJ", "evidence": [ { "database": "RefSeq", "id": "NP_001032626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032626" } ], "reference": [ { "type": "PubMed", "id": "15930519", "url": "https://glygen.org/publication/PubMed/15930519" } ] }, { "title": "Structure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum disease.", "journal": "J. Biol. Chem.", "date": "2005", "authors": "McDonough MA, Kavanagh KL, Butler D, Searls T, Oppermann U, Schofield CJ", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" }, { "database": "Reactome", "id": "R-HSA-389599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389599" } ], "reference": [ { "type": "PubMed", "id": "16186124", "url": "https://glygen.org/publication/PubMed/16186124" } ] }, { "title": "Peroxisomal trans-2-enoyl-CoA reductase is involved in phytol degradation.", "journal": "FEBS letters", "date": "2006", "authors": "Gloerich J, Ruiter JP, van den Brink DM, Ofman R, Ferdinandusse S, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-389599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389599" } ], "reference": [ { "type": "PubMed", "id": "16546181", "url": "https://glygen.org/publication/PubMed/16546181" } ] }, { "title": "Biochemistry of mammalian peroxisomes revisited.", "journal": "Annual review of biochemistry", "date": "2006", "authors": "Wanders RJ, Waterham HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-389599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389599" } ], "reference": [ { "type": "PubMed", "id": "16756494", "url": "https://glygen.org/publication/PubMed/16756494" } ] }, { "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": "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": "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", "authors": "Shiozawa K, Konarev PV, Neufeld C, Wilmanns M, Svergun DI", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "19584060", "url": "https://glygen.org/publication/PubMed/19584060" } ] }, { "title": "Mapping the cargo protein membrane translocation step into the PEX5 cycling pathway.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Alencastre IS, Rodrigues TA, Grou CP, 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": "19632994", "url": "https://glygen.org/publication/PubMed/19632994" } ] }, { "title": "A proteome-wide perspective on peroxisome targeting signal 1(PTS1)-Pex5p affinities.", "journal": "Journal of the American Chemical Society", "date": "2010", "authors": "Ghosh D, Berg JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "20178365", "url": "https://glygen.org/publication/PubMed/20178365" } ] }, { "title": "Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism.", "journal": "Journal of lipid research", "date": "2010", "authors": "Van Veldhoven PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-389599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389599" } ], "reference": [ { "type": "PubMed", "id": "20558530", "url": "https://glygen.org/publication/PubMed/20558530" } ] }, { "title": "Cysteine ubiquitination of PTS1 receptor Pex5p regulates Pex5p recycling.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2011", "authors": "Okumoto K, Misono S, Miyata N, Matsumoto Y, Mukai S, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "21554508", "url": "https://glygen.org/publication/PubMed/21554508" } ] }, { "title": "PEX5 protein binds monomeric catalase blocking its tetramerization and releases it upon binding the N-terminal domain of PEX14.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Freitas MO, Francisco T, Rodrigues TA, Alencastre IS, Pinto MP, Grou CP, Carvalho AF, 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": "21976670", "url": "https://glygen.org/publication/PubMed/21976670" } ] }, { "title": "AWP1/ZFAND6 functions in Pex5 export by interacting with cys-monoubiquitinated Pex5 and Pex6 AAA ATPase.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2012", "authors": "Miyata N, Okumoto K, Mukai S, Noguchi M, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "21980954", "url": "https://glygen.org/publication/PubMed/21980954" } ] }, { "title": "Two proteases, trypsin domain-containing 1 (Tysnd1) and peroxisomal lon protease (PsLon), cooperatively regulate fatty acid beta-oxidation in peroxisomal matrix.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Okumoto K, Kametani Y, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "22002062", "url": "https://glygen.org/publication/PubMed/22002062" } ] }, { "title": "Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Kunze M, Neuberger G, Maurer-Stroh S, Ma J, Eck T, Braverman N, Schmid JA, Eisenhaber F, Berger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "22057399", "url": "https://glygen.org/publication/PubMed/22057399" } ] }, { "title": "Identification of ubiquitin-specific protease 9X (USP9X) as a deubiquitinase acting on ubiquitin-peroxin 5 (PEX5) thioester conjugate.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Grou CP, Francisco T, Rodrigues TA, Freitas MO, Pinto MP, Carvalho AF, Domingues P, Wood SA, Rodriguez-Borges JE, 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": "22371489", "url": "https://glygen.org/publication/PubMed/22371489" } ] }, { "title": "Pex5p imports folded tetrameric catalase by interaction with Pex13p.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2012", "authors": "Otera H, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "22747494", "url": "https://glygen.org/publication/PubMed/22747494" } ] }, { "title": "A cargo-centered perspective on the PEX5 receptor-mediated peroxisomal protein import pathway.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Francisco T, Rodrigues TA, Freitas MO, Grou CP, Carvalho AF, Sa-Miranda C, Pinto MP, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "23963456", "url": "https://glygen.org/publication/PubMed/23963456" } ] }, { "title": "A novel Pex14 protein-interacting site of human Pex5 is critical for matrix protein import into peroxisomes.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Neuhaus A, Kooshapur H, Wolf J, Meyer NH, Madl T, Saidowsky J, Hambruch E, Lazam A, Jung M, Sattler M, Schliebs W, Erdmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "24235149", "url": "https://glygen.org/publication/PubMed/24235149" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" }, { "database": "iPTMnet", "id": "O14832", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O14832" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "A PEX7-centered perspective on the peroxisomal targeting signal type 2-mediated protein import pathway.", "journal": "Molecular and cellular biology", "date": "2014", "authors": "Rodrigues TA, Alencastre IS, Francisco T, Brites P, Fransen M, Grou CP, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "24865970", "url": "https://glygen.org/publication/PubMed/24865970" } ] }, { "title": "AAA peroxins and their recruiter Pex26p modulate the interactions of peroxins involved in peroxisomal protein import.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Tamura S, Matsumoto N, Takeba R, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "25016021", "url": "https://glygen.org/publication/PubMed/25016021" } ] }, { "title": "Mechanistic insights into PTS2-mediated peroxisomal protein import: the co-receptor PEX5L drastically increases the interaction strength between the cargo protein and the receptor PEX7.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Kunze M, Malkani N, Maurer-Stroh S, Wiesinger C, Schmid JA, Berger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "25538232", "url": "https://glygen.org/publication/PubMed/25538232" } ] }, { "title": "The peroxisomal protein import machinery displays a preference for monomeric substrates.", "journal": "Open biology", "date": "2015", "authors": "Freitas MO, Francisco T, Rodrigues TA, Lismont C, Domingues P, Pinto MP, Grou CP, Fransen M, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "25854684", "url": "https://glygen.org/publication/PubMed/25854684" } ] }, { "title": "Export-deficient monoubiquitinated PEX5 triggers peroxisome removal in SV40 large T antigen-transformed mouse embryonic fibroblasts.", "journal": "Autophagy", "date": "2015", "authors": "Nordgren M, Francisco T, Lismont C, Hennebel L, Brees C, Wang B, Van Veldhoven PP, Azevedo JE, Fransen M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "26086376", "url": "https://glygen.org/publication/PubMed/26086376" } ] }, { "title": "Revisiting the intraperoxisomal pathway of mammalian PEX7.", "journal": "Scientific reports", "date": "2015", "authors": "Rodrigues TA, Grou CP, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "26138649", "url": "https://glygen.org/publication/PubMed/26138649" } ] }, { "title": "A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.", "journal": "Human molecular genetics", "date": "2015", "authors": "Baroy T, Koster J, Stromme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "26220973", "url": "https://glygen.org/publication/PubMed/26220973" } ] }, { "title": "ATM functions at the peroxisome to induce pexophagy in response to ROS.", "journal": "Nature cell biology", "date": "2015", "authors": "Zhang J, Tripathi DN, Jing J, Alexander A, Kim J, Powell RT, Dere R, Tait-Mulder J, Lee JH, Paull TT, Pandita RK, Charaka VK, Pandita TK, Kastan MB, Walker CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "26344566", "url": "https://glygen.org/publication/PubMed/26344566" } ] }, { "title": "Analysis of protein-coding genetic variation in 60,706 humans.", "journal": "Nature", "date": "2016", "authors": "Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "reference": [ { "type": "PubMed", "id": "27535533", "url": "https://glygen.org/publication/PubMed/27535533" } ] }, { "title": "PEX2 is the E3 ubiquitin ligase required for pexophagy during starvation.", "journal": "The Journal of cell biology", "date": "2016", "authors": "Sargent G, van Zutphen T, Shatseva T, Zhang L, Di Giovanni V, Bandsma R, Kim PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "27597759", "url": "https://glygen.org/publication/PubMed/27597759" } ] }, { "title": "The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders.", "journal": "Autophagy", "date": "2017", "authors": "Law KB, Bronte-Tinkew D, Di Pietro E, Snowden A, Jones RO, Moser A, Brumell JH, Braverman N, Kim PK", "evidence": 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{ "database": "RefSeq", "id": "NP_001032626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001032626" } ], "reference": [ { "type": "PubMed", "id": "33468235", "url": "https://glygen.org/publication/PubMed/33468235" } ] }, { "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 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"journal": "Journal of biochemistry", "date": "1997", "authors": "Jiang LL, Miyazawa S, Souri M, Hashimoto T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033500", "url": "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": "Production of formyl-CoA during peroxisomal alpha-oxidation of 3-methyl-branched fatty acids.", "journal": "FEBS letters", "date": "1997", "authors": "Croes K, Van Veldhoven PP, Mannaerts GP, Casteels M", "evidence": [ { "database": "Reactome", "id": "R-HSA-389599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389599" } ], "reference": [ { "type": "PubMed", "id": "9166898", "url": "https://glygen.org/publication/PubMed/9166898" } ] }, { "title": "Identification of PAHX, a Refsum disease gene.", "journal": "Nature genetics", "date": "1997", "authors": "Mihalik SJ, Morrell JC, Kim D, Sacksteder KA, Watkins PA, Gould SJ", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "reference": [ { "type": "PubMed", "id": "9326939", "url": "https://glygen.org/publication/PubMed/9326939" } ] }, { "title": "Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.", "journal": "Nature genetics", "date": "1997", "authors": "Jansen GA, Ofman R, Ferdinandusse S, Ijlst L, Muijsers AO, Skjeldal OH, Stokke O, Jakobs C, Besley GT, Wraith JE, Wanders RJ", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "reference": [ { "type": "PubMed", "id": "9326940", "url": "https://glygen.org/publication/PubMed/9326940" } ] }, { "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": "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" } ] }, { "title": "Identification and characterization of human PMP34, a protein closely related to the peroxisomal integral membrane protein PMP47 of Candida boidinii.", "journal": "European journal of biochemistry", "date": "1998", "authors": "Wylin T, Baes M, Brees C, Mannaerts GP, Fransen M, Van Veldhoven PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-389599", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389599" } ], 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"MDYTRAGARLQVLLGHLGRPSALQIVAHPVSGPASPANFCPEQFQYTLDNNVLSLEQRKFYEENGFLVIKNLVSDDDIQRFRAEFERICRKEVKPPGMTVMKDVAIAKQGYAPSERVVTKIQDFQQNEELFRYCALPQIVKYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHFFPFRPSNLIVCAWTAMEHIDRNNGCLVVLPGTHKGPLKPHDYPKWEGGVNKMYHGIQDYDPDSPRVHLVMEKGDTVFFHPLLIHGSGRNRTQGFRKAISCHYGSSDCKYISVKGTSQENIAREVIEIAEKRYGVQGALDFEDTWKFRCRLVKGERINL", "length": 338 }, "evidence": [ { "id": "45930241", "url": "http://www.informatics.jax.org/homology/45930241", "database": "MGI" }, { "id": "O14832", "url": "https://omabrowser.org/oma/group/O14832/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "fatty acid alpha-oxidation", "id": "GO:0001561", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001561", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "pmid": "" }, { "name": "2-oxoglutarate metabolic process", "id": "GO:0006103", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006103", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "pmid": "" }, { "name": "isoprenoid metabolic process", "id": "GO:0006720", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006720", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "pmid": "" }, { "name": "methyl-branched fatty acid metabolic process", "id": "GO:0097089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097089", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "pmid": "" }, { "name": "2-oxobutyrate catabolic process", "id": "GO:0019606", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019606", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "phytanoyl-CoA dioxygenase activity", "id": "GO:0048244", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048244", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "pmid": "" }, { "name": "carboxylic acid binding", "id": "GO:0031406", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031406", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "pmid": "" }, { "name": "ferrous iron binding", "id": "GO:0008198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008198", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "pmid": "" }, { "name": "L-ascorbic acid binding", "id": "GO:0031418", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031418", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "pmid": "" }, { "name": "peroxisomal matrix", "id": "GO:0005782", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005782", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "pmid": "" }, { "name": "9+0 non-motile cilium", "id": "GO:0097731", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097731", "evidence": [ { "database": "UniProtKB", "id": "O14832", "url": "https://www.uniprot.org/uniprot/O14832" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 269, "end_pos": 271, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "16065", "name": "", "equation": "2-oxoglutarate + O2 + phytanoyl-CoA = 2-hydroxyphytanoyl-CoA + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P57093-1", "O14832-1", "O35386-1", "P0DPA0-1" ], "evidence": [ { "id": "16065", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/16065" } ] }, { "id": "44000", "name": "", "equation": "2-oxoglutarate + 3-methylhexadecanoyl-CoA + O2 = 2-hydroxy-3-methylhexadecanoyl-CoA + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P57093-1", "O14832-1", "O35386-1" ], "evidence": [ { "id": "44000", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/44000" } ] }, { "id": "54596", "name": "", "equation": "2-oxoglutarate + hexadecanoyl-CoA + O2 = 2-hydroxyhexadecanoyl-CoA + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P57093-1", "O14832-1", "O35386-1" ], "evidence": [ { "id": "54596", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54596" } ] }, { "id": "54600", "name": "", "equation": "2-oxoglutarate + O2 + octanoyl-CoA = 2-hydroxyoctanoyl-CoA + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P57093-1", "O14832-1", "O35386-1" ], "evidence": [ { "id": "54600", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54600" } ] }, { "id": "54604", "name": "", "equation": "2-oxoglutarate + decanoyl-CoA + O2 = 2-hydroxydecanoyl-CoA + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P57093-1", "O14832-1", "O35386-1" ], "evidence": [ { "id": "54604", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54604" } ] }, { "id": "54612", "name": "", "equation": "2-oxoglutarate + 3-methylbutanoyl-CoA + O2 = 2-hydroxy-3-methylbutanoyl-CoA + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P57093-1", "O14832-1", "O35386-1" ], "evidence": [ { "id": "54612", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54612" } ] }, { "id": "54616", "name": "", "equation": "2-oxoglutarate + heptadecanoyl-CoA + O2 = 2-hydroxyheptadecanoyl-CoA + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P57093-1", "O14832-1", "O35386-1" ], "evidence": [ { "id": "54616", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54616" } ] }, { "id": "54620", "name": "", "equation": "2-oxoglutarate + eicosanoyl-CoA + O2 = 2-hydroxyeicosanoyl-CoA + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P57093-1", "O14832-1", "O35386-1" ], "evidence": [ { "id": "54620", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54620" } ] }, { "id": "54624", "name": "", "equation": "2-oxoglutarate + O2 + octadecanoyl-CoA = 2-hydroxyoctadecanoyl-CoA + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P57093-1", "O14832-1", "O35386-1" ], "evidence": [ { "id": "54624", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54624" } ] }, { "id": "54628", "name": "", "equation": "2-oxoglutarate + dodecanoyl-CoA + O2 = 2-hydroxydodecanoyl-CoA + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P57093-1", "O14832-1", "O35386-1" ], "evidence": [ { "id": "54628", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54628" } ] }, { "id": "54632", "name": "", "equation": "2-oxoglutarate + O2 + tetradecanoyl-CoA = 2-hydroxytetradecanoyl-CoA + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P57093-1", "O14832-1", "O35386-1" ], "evidence": [ { "id": "54632", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/54632" } ] }, { "id": "55172", "name": "", "equation": "2-oxoglutarate + hexanoyl-CoA + O2 = 2-hydroxyhexanoyl-CoA + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P57093-1", "O14832-1", "O35386-1" ], "evidence": [ { "id": "55172", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/55172" } ] }, { "id": "55176", "name": "", "equation": "2-oxoglutarate + butanoyl-CoA + O2 = 2-hydroxybutanoyl-CoA + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P57093-1", "O14832-1", "O35386-1" ], "evidence": [ { "id": "55176", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/55176" } ] }, { "id": "55180", "name": "", "equation": "2-oxoglutarate + 3-methylnonanoyl-CoA + O2 = 2-hydroxy-3-methylnonanoyl-CoA + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P57093-1", "O14832-1", "O35386-1" ], "evidence": [ { "id": "55180", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/55180" } ] }, { "id": "55184", "name": "", "equation": "2-oxoglutarate + 3-methylundecanoyl-CoA + O2 = 2-hydroxy-3-methylundecanoyl-CoA + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P57093-1", "O14832-1", "O35386-1" ], "evidence": [ { "id": "55184", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/55184" } ] }, { "id": "55192", "name": "", "equation": "2-oxoglutarate + 3-methyldodecanoyl-CoA + O2 = 2-hydroxy-3-methyldodecanoyl-CoA + CO2 + succinate", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P57093-1", "O14832-1", "O35386-1" ], "evidence": [ { "id": "55192", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/55192" } ] }, { "id": "R-HSA-389639", "name": "phytanoyl-CoA + 2-oxoglutarate + O2 => 2-hydroxyphytanoyl-CoA + succinate + CO2", "equation": "", "summary": "Peroxisomal phytanoyl-CoA dioxygenase catalyzes the reaction of phytanoyl-CoA, 2-oxoglutarate, and O2 to form 2-hydroxyphytanoyl-CoA, succinate, and CO2. The mature form of the enzyme lacks the first 30 amino acid residues of the full-length polypeptide and is complexed with Fe++. Mutations in this enzyme are the commonest cause of Refsum disease (Mukherji et al. 2001; McDonough et al. 2005).", "cellular_location": "peroxisomal matrix", "input_participant_list": [ "R-ALL-389537" ], "output_participant_list": [ "R-ALL-389536", "R-ALL-389583", "R-ALL-389594" ], "enzyme_list": [ "O14832-1" ], "evidence": [ { "id": "R-HSA-389639", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-389639" } ] }, { "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-9033490", "name": "TYSND1 cleaves PHYH", "equation": "", "summary": "The trypsin-like serine-type endopeptidase TYSND1 cleaves PHYH between amino acid residues 30 and 31, yielding PHYH(1-30) and PHYH(31-338). In mice, knockout of Tysnd1 causes reduced localization of Phyh to peroxisomes.", "cellular_location": "peroxisomal matrix", "input_participant_list": [ "R-HSA-9033535" ], "output_participant_list": [ "R-HSA-389574", "R-HSA-9033518" ], "enzyme_list": [ "O14832-1", "Q2T9J0-1" ], "evidence": [ { "id": "R-HSA-9033490", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033490" } ] }, { "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-389536", "participant_name": "CO2 [peroxisomal matrix]", "crossref": [ { "id": "C00011", "database": "COMPOUND", "url": "" }, { "id": "16526", "database": "ChEBI", "url": "" }, { "id": "HMDB0001967", "database": "HMDB Metabolite", "url": "" }, { "id": "11533283", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0001967", "database": "HMDB Metabolite", "url": "" }, { "id": "C00011", "database": "COMPOUND", "url": "" }, { "id": "11533283", "database": "PubChem Substance", "url": "" }, { "id": "16526", "database": "ChEBI", "url": "" }, { "id": "C00011", "database": "COMPOUND", "url": "" }, { "id": "16526", "database": "ChEBI", "url": "" }, { "id": "HMDB0001967", "database": "HMDB Metabolite", "url": "" }, { "id": "11533283", "database": "PubChem Substance", "url": "" }, { "id": "C00011", "database": "COMPOUND", "url": "" }, { "id": "16526", "database": "ChEBI", "url": "" }, { "id": "HMDB0001967", "database": "HMDB Metabolite", "url": "" }, { "id": "11533283", "database": "PubChem Substance", "url": "" }, { "id": "HMDB0001967", "database": "HMDB Metabolite", "url": "" }, { "id": "C00011", "database": "COMPOUND", "url": "" }, { "id": "11533283", "database": "PubChem Substance", "url": "" }, { "id": "16526", "database": "ChEBI", "url": "" }, { "id": "C00011", "database": "COMPOUND", "url": "" }, { "id": "16526", "database": "ChEBI", "url": "" }, { "id": "HMDB0001967", "database": "HMDB Metabolite", "url": "" }, { "id": "11533283", 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