{ "uniprot_canonical_ac": "O60683-1", "uniprot_ac": "O60683", "uniprot_id": "PEX10_HUMAN", "mass": { "chemical_mass": 37069.0, "monoisotopic_mass": 37069.0 }, "refseq": { "ac": "NP_002608", "name": "peroxisome biogenesis factor 10 isoform 2", "summary": "This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002608" }, "gene_names": [ { "name": "PEX10", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60683", "id": "O60683" }, { "name": "NALD; PBD6A; PBD6B; RNF69", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002608", "id": "NP_002608" }, { "name": "PEX10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002608", "id": "NP_002608" }, { "name": "RNF69", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60683", "id": "O60683" } ], "protein_names": [ { "name": "Peroxisome biogenesis factor 10", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60683" }, { "name": "2.3.2.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60683" }, { "name": "Peroxin-10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60683" }, { "name": "Peroxisomal biogenesis factor 10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60683" }, { "name": "Peroxisome assembly protein 10", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60683" }, { "name": "RING finger protein 69", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60683" }, { "name": "peroxisome biogenesis factor 10 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002608", "id": "NP_002608" }, { "name": "peroxisome biogenesis factor 10; peroxin 10; peroxisome assembly protein 10; RING finger protein 69", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002608", "id": "NP_002608" } ], "function": [ { "annotation": "Collectively, the rs2477686 in PEX10 , rs6080550 in SIRPA-SIRPG, and rs10842262 in SOX5 gene may indeed be the genetic risk factors for nonobstructive azoospermia (NOA), which requires further investigation using larger independent sets of samples in different ethnic populations.", "evidence": [ { "database": "RefSeq", "id": "NP_002608", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002608" }, { "database": "PubMed", "id": "30863997", "url": "https://glygen.org/publication/PubMed/30863997" } ] }, { "annotation": "E3 ubiquitin-protein ligase component of a retrotranslocation channel required for peroxisome organization by mediating export of the PEX5 receptor from peroxisomes to the cytosol, thereby promoting PEX5 recycling (PubMed:24662292). The retrotranslocation channel is composed of PEX2, PEX10 and PEX12; each subunit contributing transmembrane segments that coassemble into an open channel that specifically allows the passage of PEX5 through the peroxisomal membrane (By similarity). PEX10 also regulates PEX5 recycling by acting as a E3 ubiquitin-protein ligase (PubMed:24662292). When PEX5 recycling is compromised, PEX10 catalyzes polyubiquitination of PEX5 during its passage through the retrotranslocation channel, leading to its degradation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683#function" }, { "database": "PubMed", "id": "24662292", "url": "https://glygen.org/publication/PubMed/24662292" }, { "database": "UniProtKB", "id": "Q05568", "url": "https://www.uniprot.org/uniprot/Q05568#function" } ] }, { "annotation": "Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort.", "evidence": [ { "database": "RefSeq", "id": "NP_002608", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002608" }, { "database": "PubMed", "id": "33784440", "url": "https://glygen.org/publication/PubMed/33784440" } ] }, { "annotation": "This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002608", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002608" } ] }, { "annotation": "This study demonstrated that two mutations in PEX10 were found in the three peroxisomal biogenesis disorders patients: c.827G>T (novel) causing the missense change p.Cys276Phe and c.932G>A causing the missense change p.Arg311Gln.", "evidence": [ { "database": "RefSeq", "id": "NP_002608", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002608" }, { "database": "PubMed", "id": "27230853", "url": "https://glygen.org/publication/PubMed/27230853" } ] } ], "disease": [ { "disease_id": "DOID:0080481", "recommended_name": { "id": "DOID:0080481", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080481", "name": "peroxisome biogenesis disorder 6A", "description": "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36." }, "synonyms": [ { "id": "DOID:0080481", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080481", "name": "peroxisome biogenesis disorder 6A (Zellweger)", "description": "" }, { "id": "MONDO:0013936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013936", "name": "peroxisome biogenesis disorder 6A (Zellweger)", "description": "" }, { "id": "MONDO:0013936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013936", "name": "peroxisome biogenesis disorder 6A (Zellweger)", "description": "" }, { "id": "MONDO:0013936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013936", "name": "PBD6A", "description": "" }, { "id": "MONDO:0013936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013936", "name": "peroxisome biogenesis disorder, complementation group 7", "description": "" }, { "id": "MONDO:0013936", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013936", "name": "peroxisome biogenesis disorder, complementation group B", "description": "" }, { "id": "MIM:614870", "resource": "MIM", "url": "https://www.omim.org/entry/614870", "name": "Peroxisome biogenesis disorder 6A", "description": "Peroxisome biogenesis disorder 6A" } ], "evidence": [ { "id": "614870", "database": "MIM", "url": "https://www.omim.org/entry/614870" } ] }, { "disease_id": "MONDO:0013937", "recommended_name": { "id": "MONDO:0013937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013937", "name": "peroxisome biogenesis disorder 6B", "description": "" }, "synonyms": [ { "id": "MONDO:0013937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013937", "name": "peroxisome biogenesis disorder 6B", "description": "" }, { "id": "MONDO:0013937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013937", "name": "peroxisome biogenesis disorder type 6B", "description": "" }, { "id": "MONDO:0013937", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013937", "name": "PBD6B", "description": "" }, { "id": "MIM:614871", "resource": "MIM", "url": "https://www.omim.org/entry/614871", "name": "Peroxisome biogenesis disorder 6B", "description": "Peroxisome biogenesis disorder 6B" } ], "evidence": [ { "id": "614871", "database": "MIM", "url": "https://www.omim.org/entry/614871" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 273, "end_pos": 273, "sequence_org": "C", "sequence_mut": "A", "comment": "Abolished E3 ubiquitin-protein ligase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" }, { "database": "PubMed", "id": "24662292", "url": "https://glygen.org/publication/PubMed/24662292" } ] }, { "start_pos": 310, "end_pos": 310, "sequence_org": "C", "sequence_mut": "G", "comment": "Abolished E3 ubiquitin-protein ligase activity.", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" }, { "database": "PubMed", "id": "24662292", "url": "https://glygen.org/publication/PubMed/24662292" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "78.21", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157911" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "73.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157911" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "75.56", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157911" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "65.45", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157911" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "84.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157911" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "79.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157911" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "60.59", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000157911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157911" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "78.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157911" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "82.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157911" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "54.33", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000157911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157911" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "76.89", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000157911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157911" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "87.02", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157911" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "83.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000157911", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000157911" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60683", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60683" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - 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"name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", 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"DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O60683", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60683" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O60683", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60683" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O60683", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60683" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O60683", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60683" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O60683", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60683" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O60683", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60683" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O60683", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60683" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O60683", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60683" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is 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"https://www.uniprot.org/uniprot/J3QRM4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "J3QRM4-1", "url": "https://www.uniprot.org/uniprot/J3QRM4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60683-1", "url": "https://www.uniprot.org/uniprot/O60683-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60683-2", "url": "https://www.uniprot.org/uniprot/O60683-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAPAAASPPEVIRAAQKDEYYRGGLRSAAGGALHSLAGARKWLEWRKEVELLSDVAYFGLTTLAGYQTLGEEYVSIIQVDPSRIHVPSSLRRGVLVTLHAVLPYLLDKALLPLEQELQADPDSGRPLQGSLGPGGRGCSGARRWMRHHTATLTEQQRRALLRAVFVLRQGLACLQRLHVAWFYIHGVFYHLAKRLTGITYLRVRSLPGEDLRARVSYRLLGVISLLHLVLSMGLQLYGFRQRQRARKEWRLHRGLSHRRASLEERAVSRNPLCTLCLEERRHPTATPCGHLFCWECITAWCSSKAECPLCREKFPPQKLIYLRHYR", "length": 326, "header": "sp|O60683-1|PEX10_HUMAN Isoform 1 of Peroxisome biogenesis factor 10 OS=Homo sapiens OX=9606 GN=PEX10 PE=1 SV=1 CANONICAL=O60683-1" }, "isoforms": [ { "isoform_ac": "A0A3B3ITN6-1", "url": "", "sequence": { "sequence": "XKDEYYRGGLRSAAGGALHSLAGARKWLEWRKEVELLSDVAYFGLTTLAGYQTLGEEYVSIIQVDPSRIHVPSSLRRGVLVTLHAVLPYLLDKALLPLEQELQADPDSGRPLQGSLGPGGRGCSGARRWMRHHTATLTEQQRRALLRAVFVLRQGLACLQRLHVAWFYIHGVFYHLAKRLTGITYLRVRSLPGEDLRARVSYRLLGVISLLHLVLSMGLQLYGFRQRQRARKEWRLHRGLSHRRASLEERAVSRNPLCTLCLEERRHPTATPCGHLFCWECITAWCSSKAECPLCREKFPPQKLIYLRHYR", "length": 311, "header": "tr|A0A3B3ITN6-1|A0A3B3ITN6_HUMAN Computationally mapped isoform of RING-type E3 ubiquitin transferase OS=Homo sapiens OX=9606 GN=PEX10 PE=1 SV=1 CANONICAL=O60683-1" }, "locus": { "chromosome": "1", "start_pos": 2412456, "end_pos": 2405768, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650293.1", "url": "https://www.ensembl.org/id/ENST00000650293.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000497980.1", "url": "https://www.ensembl.org/id/ENSP00000497980.1" } ] } }, { "isoform_ac": "D6RA89-1", "url": "", "sequence": { "sequence": "MAPAAASPPEVIRAAQKDEYYRGGLRSAAGGALHSLAGARKWLEWRKEVELLSDVAYFGLTTLAGYQTLGEEYVSIIQVDPSRIHVPSSLRRGVLVTLHAVLPYLLDKALLPLEQELQADPDSGRPLQGSLGPGGRGCSGARRWMRHHTATLTEQQRRALLRAVFVLRQGLACLQRLHVAWFYIHGVFYHLAKRLTGITSVSAACPERT", "length": 209, "header": "tr|D6RA89-1|D6RA89_HUMAN Computationally mapped isoform of RING-type E3 ubiquitin transferase OS=Homo sapiens OX=9606 GN=PEX10 PE=1 SV=1 CANONICAL=O60683-1" }, "locus": { "chromosome": "1", "start_pos": 2412502, "end_pos": 2406865, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000510434.1", "url": "https://www.ensembl.org/id/ENST00000510434.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000423051.1", "url": "https://www.ensembl.org/id/ENSP00000423051.1" } ] } }, { "isoform_ac": "D6RBB0-1", "url": "", "sequence": { "sequence": "MAPAAASPPEVIRAAQKDEYYRGGLRSAAGGALHSLAGARKWLEWRKEVELLSDVAYFGLTTLAGYQTLGEEYVSIIQVDPSRIHVPSSLRRGVLVTLHAVLPYLLDKALLPLEQELQADPDSGRPLQGSLGPGGRGCSGARRWMRHHTATLTEQQRRALLRAVFVLRQGLACLQRLHVAWFYIHGVFYHLAKRLTGITYLRVRSLPGEDLRARVSYRLLGVISLLHLVLSMGLQLYGFRQRQRARKEWRLHRGLSHRRASLEERAVSRNPLCTLCLEERRHPTATPCGHLFCWECITAWCSSKCPLCREKFPPQKLIYLRHYR", "length": 324, "header": "tr|D6RBB0-1|D6RBB0_HUMAN Computationally mapped isoform of RING-type E3 ubiquitin transferase OS=Homo sapiens OX=9606 GN=PEX10 PE=1 SV=1 CANONICAL=O60683-1" }, "locus": { "chromosome": "1", "start_pos": 2412502, "end_pos": 2405769, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000507596.5", "url": "https://www.ensembl.org/id/ENST00000507596.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000424291.1", "url": "https://www.ensembl.org/id/ENSP00000424291.1" } ] } }, { "isoform_ac": "D6RIF5-1", "url": "", "sequence": { "sequence": "MAPAAASPPEVIRAAQKDEYYRGGLRSAAGGALHSLAGLITLLIDEQIEIPERPHSQQVGELLFDARQLASGL", "length": 73, "header": "tr|D6RIF5-1|PEX10_HUMAN Computationally mapped isoform of Peroxisome biogenesis factor 10 OS=Homo sapiens OX=9606 GN=PEX10 PE=1 SV=1 CANONICAL=O60683-1" }, "locus": { "chromosome": "1", "start_pos": 2412502, "end_pos": 2410762, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000514502.1", "url": "https://www.ensembl.org/id/ENST00000514502.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000425924.1", "url": "https://www.ensembl.org/id/ENSP00000425924.1" } ] } }, { "isoform_ac": "J3KRE0-1", "url": "", "sequence": { "sequence": "EIPERPHSQQVGELLFDARQLASGL", "length": 25, "header": "tr|J3KRE0-1|J3KRE0_HUMAN Computationally mapped isoform of Peroxisomal biogenesis factor 10 OS=Homo sapiens OX=9606 GN=PEX10 PE=4 SV=1 CANONICAL=O60683-1" }, "locus": { "chromosome": "1", "start_pos": 2410836, "end_pos": 2410762, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000502666.1", "url": "https://www.ensembl.org/id/ENST00000502666.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000461951.1", "url": "https://www.ensembl.org/id/ENSP00000461951.1" } ] } }, { "isoform_ac": "J3QRM4-1", "url": "", "sequence": { "sequence": "MRHHTATLTEQQRRALLRAVFVLRQGLACL", "length": 30, "header": "tr|J3QRM4-1|J3QRM4_HUMAN Computationally mapped isoform of Peroxisomal biogenesis factor 10 OS=Homo sapiens OX=9606 GN=PEX10 PE=1 SV=1 CANONICAL=O60683-1" }, "locus": { "chromosome": "1", "start_pos": 2408619, "end_pos": 2408530, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000508384.5", "url": "https://www.ensembl.org/id/ENST00000508384.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464289.1", "url": "https://www.ensembl.org/id/ENSP00000464289.1" } ] } }, { "isoform_ac": "O60683-1", "url": "", "sequence": { "sequence": "MAPAAASPPEVIRAAQKDEYYRGGLRSAAGGALHSLAGARKWLEWRKEVELLSDVAYFGLTTLAGYQTLGEEYVSIIQVDPSRIHVPSSLRRGVLVTLHAVLPYLLDKALLPLEQELQADPDSGRPLQGSLGPGGRGCSGARRWMRHHTATLTEQQRRALLRAVFVLRQGLACLQRLHVAWFYIHGVFYHLAKRLTGITYLRVRSLPGEDLRARVSYRLLGVISLLHLVLSMGLQLYGFRQRQRARKEWRLHRGLSHRRASLEERAVSRNPLCTLCLEERRHPTATPCGHLFCWECITAWCSSKAECPLCREKFPPQKLIYLRHYR", "length": 326, "header": "sp|O60683-1|PEX10_HUMAN Isoform 1 of Peroxisome biogenesis factor 10 OS=Homo sapiens OX=9606 GN=PEX10 PE=1 SV=1 CANONICAL=O60683-1" }, "locus": { "chromosome": "1", "start_pos": 2412502, "end_pos": 2405769, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000447513.7", "url": "https://www.ensembl.org/id/ENST00000447513.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000407922.2", "url": "https://www.ensembl.org/id/ENSP00000407922.2" } ] } }, { "isoform_ac": "O60683-2", "url": "", "sequence": { "sequence": "MAPAAASPPEVIRAAQKDEYYRGGLRSAAGGALHSLAGARKWLEWRKEVELLSDVAYFGLTTLAGYQTLGEEYVSIIQVDPSRIHVPSSLRRGVLVTLHAVLPYLLDKALLPLEQELQADPDSGRPLQGSLGPGGRGCSGARRWMRHHTATLTEQQRRALLRAVFVLRQGLACLQRLHVAWFYIHGVFYHLAKRLTGITYQALRPDPLRVLMSVAPSALQLRVRSLPGEDLRARVSYRLLGVISLLHLVLSMGLQLYGFRQRQRARKEWRLHRGLSHRRASLEERAVSRNPLCTLCLEERRHPTATPCGHLFCWECITAWCSSKAECPLCREKFPPQKLIYLRHYR", "length": 346, "header": "sp|O60683-2|PEX10_HUMAN Isoform 2 of Peroxisome biogenesis factor 10 OS=Homo sapiens OX=9606 GN=PEX10 PE=1 SV=1 CANONICAL=O60683-1" }, "locus": { "chromosome": "1", "start_pos": 2412502, "end_pos": 2405769, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000288774.8", "url": "https://www.ensembl.org/id/ENST00000288774.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000288774.3", "url": "https://www.ensembl.org/id/ENSP00000288774.3" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 89, "end_pos": 89, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60683", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60683" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser89" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Identification and characterization of the human orthologue of yeast Pex14p.", "journal": "Molecular and cellular biology", "date": "1999", "authors": "Will GK, Soukupova M, Hong X, Erdmann KS, Kiel JA, Dodt G, Kunau WH, Erdmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "10022913", "url": "https://glygen.org/publication/PubMed/10022913" } ] }, { "title": "PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Chang CC, Warren DS, Sacksteder KA, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "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": "PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.", "journal": "J. Cell Biol.", "date": "2000", "authors": "Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "reference": [ { "type": "PubMed", "id": "10704444", "url": "https://glygen.org/publication/PubMed/10704444" } ] }, { "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": "Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences.", "journal": "Mol. Cell. Biol.", "date": "2001", "authors": "Fransen M, Wylin T, Brees C, Mannaerts GP, Van Veldhoven PP", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "reference": [ { "type": "PubMed", "id": "11390669", "url": "https://glygen.org/publication/PubMed/11390669" } ] }, { "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": "The AAA ATPase Cdc48/p97 and its partners transport proteins from the ER into the cytosol.", "journal": "Nature", "date": "2001", "authors": "Ye Y, Meyer HH, Rapoport TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "11740563", "url": "https://glygen.org/publication/PubMed/11740563" } ] }, { "title": "Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.", "journal": "American journal of human genetics", "date": "2002", "authors": "Motley AM, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, Tabak HF, Wanders RJ, Waterham HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "11781871", "url": "https://glygen.org/publication/PubMed/11781871" } ] }, { "title": "Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins.", "journal": "The Biochemical journal", "date": "2002", "authors": "Ghys K, Fransen M, Mannaerts GP, Van Veldhoven PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "11931631", "url": "https://glygen.org/publication/PubMed/11931631" } ] }, { "title": "PEX5 binds the PTS1 independently of Hsp70 and the peroxin PEX12.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Harper CC, Berg JM, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "12456682", "url": "https://glygen.org/publication/PubMed/12456682" } ] }, { "title": "Protein structure and import into the peroxisomal matrix.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2003", "authors": "Brocard CB, Jedeszko C, Song HC, Terlecky SR, Walton PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "12559034", "url": "https://glygen.org/publication/PubMed/12559034" } ] }, { "title": "Correlating structure and affinity for PEX5:PTS1 complexes.", "journal": "Biochemistry", "date": "2003", "authors": "Gatto GJ Jr, Maynard EL, Guerrerio AL, Geisbrecht BV, Gould SJ, Berg JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "12578380", "url": "https://glygen.org/publication/PubMed/12578380" } ] }, { "title": "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.", "journal": "Nature cell biology", "date": "2003", "authors": "Matsumoto N, Tamura S, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "12717447", "url": "https://glygen.org/publication/PubMed/12717447" } ] }, { "title": "The energetics of Pex5p-mediated peroxisomal protein import.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Oliveira ME, Gouveia AM, Pinto RA, Sa-Miranda C, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "12885776", "url": "https://glygen.org/publication/PubMed/12885776" } ] }, { "title": "A membrane protein required for dislocation of misfolded proteins from the ER.", "journal": "Nature", "date": "2004", "authors": "Lilley BN, Ploegh HL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "15215855", "url": "https://glygen.org/publication/PubMed/15215855" } ] }, { "title": "A membrane protein complex mediates retro-translocation from the ER lumen into the cytosol.", "journal": "Nature", "date": "2004", "authors": "Ye Y, Shibata Y, Yun C, Ron D, Rapoport TA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "15215856", "url": "https://glygen.org/publication/PubMed/15215856" } ] }, { "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 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"https://www.uniprot.org/uniprot/O60683" } ], "reference": [ { "type": "PubMed", "id": "9683594", "url": "https://glygen.org/publication/PubMed/9683594" } ] }, { "title": "Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.", "journal": "Hum. Mol. Genet.", "date": "1998", "authors": "Okumoto K, Itoh R, Shimozawa N, Suzuki Y, Tamura S, Kondo N, Fujiki Y", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "reference": [ { "type": "PubMed", "id": "9700193", "url": "https://glygen.org/publication/PubMed/9700193" } ] }, { "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": "Peroxisome synthesis in the absence of preexisting peroxisomes.", "journal": "J. Cell Biol.", "date": "1999", "authors": "South ST, Gould SJ", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "reference": [ { "type": "PubMed", "id": "9922452", "url": "https://glygen.org/publication/PubMed/9922452" } ] } ], "pathway": [ { "id": "hsa:5192", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5192", "resource": "KEGG Pathway" }, { "id": "R-HSA-8866654", "name": "E3 ubiquitin ligases ubiquitinate target proteins", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654", "resource": "Reactome", "description": "E3 ubiquitin ligases ubiquitinate target proteins" }, { "id": "R-HSA-9033241", "name": "Peroxisomal protein import", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241", "resource": "Reactome", "description": "Peroxisomal protein import" } ], "orthologs": [ { "uniprot_canonical_ac": "B1AUE5-1", "protein_name": "Peroxisome biogenesis factor 10", "gene_name": "Pex10", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MARAGAPEVIRAAQKDEYYLGGLRSAAGEALHSLAGAKKWLEWRKEIELLSDIAYFGLTTIAGYQTLGEEYVGIIQVDPSQQRVPSRLRRAALVALHAVLPYLLDKALLPLEQELQADGDAPRASQGSLLPGGRSRSGARRWVRHHAATLTEQQRKALQRAVFILRQGFACLHRLHVAWFYIHGTFYHLAKRLAGITYLRTRRLPGEDQKARTSYGLLGLISLLHLVLSMGLRLYSFRQKQRARKEWRLHRNLSHRRSSLEDRAVCRTPLCTLCLEERRHSTATPCGHLFCWECITEWCNTKTECPLCREKFPPQKLVYLRHYR", "length": 324 }, "evidence": [ { "id": "45925767", "url": "http://www.informatics.jax.org/homology/45925767", "database": "MGI" }, { "id": "O60683", "url": "https://omabrowser.org/oma/group/O60683/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "D3ZC81-1", "protein_name": "RING-type E3 ubiquitin transferase", "gene_name": "Pex10", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAQAGPPEVIRAAQKDEYYLGGLRSAAGGALHSLAGAKKWLEWRKEIELLSDIAYFGLTTIAGYQTLGEEYVGIIQVDPSRQRVPSRLRRGVLVALHAVLPYLLDKALLPLEQELQAEGDGTRASQGSLLPGGRSRSGARRWVRHHAATLTEQQRRALQRAVFILRQGFACLHRLHVAWFYIHGTFYHLAKRLAGITYLRTRRLPGEDLRACTSYRLLGLISLLHLALSLGLQLYSFRQKQRARKEWRLHRNLSHRRSSLEDRAVCRAPLCTLCLEERRHSTATPCGHLFCWECITEWCNTKTECPLCREKFPPQKLVYLRHYR", "length": 324 }, "evidence": [ { "id": "45925767", "url": "http://www.informatics.jax.org/homology/45925767", "database": "MGI" }, { "id": "O60683", "url": "https://omabrowser.org/oma/group/O60683/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q05568-1", "protein_name": "Peroxisome biogenesis factor 10", "gene_name": "PEX10", "tax_id": 559292, "organism": "Saccharomyces cerevisiae S288C", "sequence": { "sequence": "MKNDNKLQKEALMRLSQLRFPFADAPSIVQAHQKDEQIQGLLIMKVTELCKLIKSQLFVNSYPKELSIFAKLLYLLFTTGRRGRTLGEEYVDLTYTNRKGTRLAGRLKMIVFAFAYPLCPYFITKLYKKIMKNNKESKIEDTESVAAFCKGLLDFILDVHMTLFYFKGAFYSISKRIFGMRYVFKHILSKNEANFREEGSQKYKVLGYILLAQNVMKWYPVLTSTLGSWIYGRKRTNDSITRSSVGLQERSEHESIEGIPKESQLTHINLSDKNQLPFIPEASRKCILCLMNMSDPSCAPCGHLFCWSCLMSWCKERPECPLCRQHCQPQEILVLRQ", "length": 337 }, "evidence": [ { "id": "O60683", "url": "https://omabrowser.org/oma/group/O60683/", "database": "OMA" } ], "common_name": "Yeast" }, { "uniprot_canonical_ac": "Q9W0D7-1", "protein_name": "RING-type E3 ubiquitin transferase", "gene_name": "Pex10", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MDFRNARARQPEIVRSVQKDARYTNELAEDLSDVLRLTGPRNWIKYNQMCRLLAELSYHGFASANNLQTLGEEYTGIIQVDGNYKQIPSRLLQLIAIVLEFGGDSLFQRLMQKLDTYVANNDEIRTEIKPQLKKIIQRLRQSPSYVKALHKSLFYLDASKYQLSKRTTGINYVLIRHWLQPEFSLYGYKILGVITFLQVSVSLAISGWDAWREHKRQQLESIKQAGKNFLQRSSSTKDVDPNTPQCILCLEPRSDSSLTPCGHIFCWSCLLEWLEERDECPLCRESLKKSQVILLQNYA", "length": 299 }, "evidence": [ { "id": "O60683", "url": "https://omabrowser.org/oma/group/O60683/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "pmid": "" }, { "name": "peroxisome", "id": "GO:0005777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005777", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "pmid": "" }, { "name": "transferase activity", "id": "GO:0016740", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016740", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "pmid": "" }, { "name": "ubiquitin protein ligase activity", "id": "GO:0061630", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061630", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "pmid": "" }, { "name": "protein transmembrane transporter activity", "id": "GO:0008320", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008320", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "protein import into peroxisome matrix", "id": "GO:0016558", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016558", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "pmid": "" }, { "name": "protein import into peroxisome matrix, substrate release", "id": "GO:0044721", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044721", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "pmid": "" }, { "name": "peroxisome organization", "id": "GO:0007031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007031", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "pmid": "" }, { "name": "proteasome-mediated ubiquitin-dependent protein catabolic process", "id": "GO:0043161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043161", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "pmid": "" }, { "name": "protein polyubiquitination", "id": "GO:0000209", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000209", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "pmid": "" }, { "name": "cellular response to reactive oxygen species", "id": "GO:0034614", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034614", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "pmid": "" }, { "name": "protein quality control for misfolded or incompletely synthesized proteins", "id": "GO:0006515", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006515", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "pmid": "" }, { "name": "protein import into peroxisome matrix, receptor recycling", "id": "GO:0016562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016562", "evidence": [ { "database": "UniProtKB", "id": "O60683", "url": "https://www.uniprot.org/uniprot/O60683" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-8953917", "name": "PEX2:PEX10:PEX12 binds PEX5S,L (in PEX5S:PEX13:PEX14) and Ub:UBE2D1,2,3", "equation": "", "summary": "A RING E3 ubiquitin ligase complex containing PEX10, PEX12, and PEX2 ubiquitinates PEX5L. The PEX2:PEX10:PEX12 complex is believed to bind an activated E2-ubiquitin conjugate (one of Ub:UBE2D1, Ub:UBE2D2, Ub:UBE2D3) and PEX5L in a complex that also contains PEX13 and PEX14 (Chang et al. 1999, Carvalho et al. 2007, Grou et al. 2008, Grou et al. 2009, Okumoto et al. 2011). The short isoform of PEX5, PEX5S, is inferred to undergo the same reaction.", "cellular_location": "peroxisomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P28328-1", "O60683-1", "P51668-1", "P61077-1", "P62837-1" ], "evidence": [ { "id": "R-HSA-8953917", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8953917" } ] }, { "id": "R-HSA-8953946", "name": "PEX2:PEX10:PEX12 monoubiquitinates PEX5S,L at cysteine-11", "equation": "", "summary": "The RING-type E3 ubiquitin ligase sub-complex PEX2:PEX10:PEX12 catalyzes the transfer of ubiquitin from an E2-ubiquitin conjugate (one of Ub:UBE2D1, Ub:UBE2D2, or Ub:UBE2D3) to the cysteine-11 residue of the substrate PEX5L, the peroxisomal matrix protein shuttling receptor (Carvalho et al. 2007; Grou et al. 2008, Okumoto et al. 2011, Sargent et al. 2016, inferred from yeast in Dodt and Gould 1996). The thiol ester bond between ubiquitin and the cysteine residue of PEX5 is unusual among ubiquitin substrates, which usually have isopeptide bonds between ubiquitin and a lysine residue. Monoubiquitination of PEX5 at cysteine-11 is an integral and mandatory step in the PEX5-mediated peroxisomal protein transport pathway; in its absence, PEX5 cannot be extracted from the peroxisomal membrane docking/translocation machinery (the peroxisomal protein translocon), and thus transport of newly synthesized peroxisomal matrix proteins to the organelle matrix stops (Grou et al. 2009). In addition to monoubiquitinating PEX5 during peroxisomal protein import, the PEX2:PEX10:PEX12 complex has also been implicated in pexophagy, a type of selective autophagy targeting peroxisomes. Pexophagy seems to be triggered mainly by ubiquitination of PEX5, which, in this case, can occur either at its cysteine-11 or lysine-209 residues, but ubiquitination of ABCD3 (also known as PMP70) and other peroxisomal membrane proteins may also be involved (Zhang et al. 2015, inferred from mouse in Nordgren et al. 2015, Sargent et al. 2016).", "cellular_location": "peroxisomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P28328-1", "O60683-1", "P51668-1", "P61077-1", "P62837-1" ], "evidence": [ { "id": "R-HSA-8953946", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8953946" } ] }, { "id": "R-HSA-9033235", "name": "Cargo of PEX5S,L translocates from the cytosol to the peroxisomal matrix", "equation": "", "summary": "After binding the Docking and Translocation Module comprising PEX14, PEX13, PEX2, PEX10 and PEX12 , PEX5S or PEX5L bound to a cargo protein becomes localized to the membrane (Dodt et al. 1995, Wiemer et al. 1995, Alencastre et al. 2009, Francisco et al. 2013, Dias et al. 2017). In a reaction that is not yet fully characterized, the cargo protein is released into the peroxisomal matrix while PEX5S or PEX5L remains in the membrane (Dodt et al. 1995, Wiemer et al. 1995, Alencastre et al. 2009, Franscisco et al. 2013). One model for the reaction hypothesizes that PEX13:PEX14 (associated with PEX2:PEX10:PEX12) forms a barrel in the peroxisomal membrane while PEX5S or PEX5L acts as a plunger to guide the cargo through the barrel (Dias et al. 2017, Francisco et al. 2017). Notably, the reaction does not require a source of energy such as ATP (Oliveira et al. 2003). Mutations in PEX5 cause defects in import of PTS1-containing proteins or PTS2-containing proteins or both (Eberrink et al. 2009, Bar\u00f8y et al. 2015).", "cellular_location": "peroxisomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22307-1", "P35914-1", "A8MXV4-1", "P28328-1", "Q9NUI1-1", "Q9BTZ2-1", "Q9P0Z9-1", "O15228-1", "Q99489-1", "O14734-1", "P49753-1", "Q8N9L9-1", "P14920-1", "O15254-1", "Q99424-1", "Q15067-1", "Q9UHK6-1", "P04040-1", "P35228-1", "Q9UJM8-1", "Q9UKG9-1", "Q6QHF9-2", "P21549-1", "O60683-1", "Q9BY49-1", "Q13011-1", "Q86WA8-1", "P43155-1", "O14975-1", "Q14032-1", "Q9Y2Q3-1", "P14735-1", "P0C024-1", "O75874-1", "Q9NYQ3-1", "Q9UJ83-1", "Q2T9J0-1" ], "evidence": [ { "id": "R-HSA-9033235", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033235" } ] }, { "id": "R-HSA-9033236", "name": "PEX5S,L:Cargo binds PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Module)", "equation": "", "summary": "PEX5S or PEX5L bound to cargo proteins containing PTS1 interacts with the Docking and Translocation Module (PEX13:PEX14:PEX2:PEX10:PEX12) (Gould et al. 1996, Fransen et al. 1998, Will et al. 1999, Neufeld et al. 2009, Shiozawa et al. 2009, Freitas et al. 2011, Francisco et al. 2013, Neufeld et al. 2014, Dias et al. 2017).", "cellular_location": "peroxisomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P22307-1", "P35914-1", "A8MXV4-1", "P28328-1", "Q9NUI1-1", "Q9BTZ2-1", "Q9P0Z9-1", "O15228-1", "Q99489-1", "O14734-1", "P49753-1", "Q8N9L9-1", "P14920-1", "O15254-1", "Q99424-1", "Q15067-1", "Q9UHK6-1", "P04040-1", "P35228-1", "Q9UJM8-1", "Q9UKG9-1", "Q6QHF9-2", "P21549-1", "O60683-1", "Q9BY49-1", "Q13011-1", "Q86WA8-1", "P43155-1", "O14975-1", "Q14032-1", "Q9Y2Q3-1", "P14735-1", "P0C024-1", "O75874-1", "Q9NYQ3-1", "Q9UJ83-1", "Q2T9J0-1" ], "evidence": [ { "id": "R-HSA-9033236", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033236" } ] }, { "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-9033485", "name": "PEX2:PEX10:PEX12 monoubiquitinates PEX5L at cysteine-11", "equation": "", "summary": "The RING-type E3 ubiquitin ligase sub-complex PEX2:PEX10:PEX12 catalyzes the transfer of ubiquitin from an E2-ubiquitin conjugate (one of Ub:UBE2D1, Ub:UBE2D2, or Ub:UBE2D3) to the cysteine-11 residue of the substrate PEX5L, the peroxisomal matrix protein shuttling receptor (Carvalho et al. 2007; Grou et al. 2008, Okumoto et al. 2011, Sargent et al. 2016, inferred from yeast in Dodt and Gould 1996). In contrast to PEX5, PEX7 transiently associated with the docking and translocation module (which comprises PEX14, PEX13, PEX2, PEX10, and PEX12) is not ubiquitinated. The thiol ester bond between ubiquitin and the cysteine residue of PEX5 is unusual among ubiquitin substrates, which usually have isopeptide bonds between ubiquitin and a lysine residue. Monoubiquitination of PEX5 at cysteine-11 is an integral and mandatory step in the PEX5-mediated peroxisomal protein transport pathway; in its absence, PEX5 and PEX7 cannot be extracted from the peroxisomal membrane docking-translocation machinery (the peroxisomal protein translocon), and thus transport of newly synthesized peroxisomal matrix proteins to the organelle matrix stops (Grou et al. 2009). In addition to monoubiquitinating PEX5 during peroxisomal protein import, the PEX2:PEX10:PEX12 sub-complex has also been implicated in pexophagy, a type of selective autophagy targeting peroxisomes. Pexophagy seems to be triggered mainly by ubiquitination of PEX5, which, in this case, can occur either at its cysteine-11 or lysine-209 residues, but ubiquitination of ABCD3 (also known as PMP70) and other peroxisomal membrane proteins may also be involved (Zhang et al. 2015, inferred from mouse in Nordgren et al. 2015, Sargent et al. 2016).", "cellular_location": "peroxisomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P28328-1", "O60683-1", "P51668-1", "P61077-1", "P62837-1" ], "evidence": [ { "id": "R-HSA-9033485", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033485" } ] }, { "id": "R-HSA-9033499", "name": "PEX1:PEX6:PEX26:ZFAND6 dissociates Ub:PEX5L and PEX7 from PEX14:PEX13:PEX2:PEX10:PEX12 and translocates PEX5L and PEX7 from the peroxisomal membrane to the cytosol", "equation": "", "summary": "Ubiquitinated PEX5 isoform L (Ub:PEX5L) is released from the peroxisomal membrane Docking and Translocation Module by PEX1:PEX6:PEX26 (the peroxisomal AAA ATPase complex, receptor export module) (Tamura et al. 2014, Law et al. 2017, also inferred from yeast homologs). PEX1 and PEX6 form a cytosolic hexameric ring that is anchored to the peroxisomal membrane by PEX26. Hydrolysis of ATP by PEX1 and PEX6 appears to cause a conformational change in PEX1:PEX6:PEX26 that removes Ub:PEX5L from the peroxisomal membrane and into the cytosol (reviewed in Saffert et al. 2017). ZFAND6 probably binds ubiquitinated PEX5 and PEX6 and acts as an export factor (Miyata et al. 2012). Export of PEX7 back to the cytosol requires export of PEX5L but PEX7 and PEX5L appear to be exported separately (Rodrigues et al. 2014).", "cellular_location": "peroxisomal membrane", "input_participant_list": [], "output_participant_list": [ "R-HSA-9033138", "R-HSA-9033107" ], "enzyme_list": [ "O43933-1", "P28328-1", "Q13608-1", "O60683-1" ], "evidence": [ { "id": "R-HSA-9033499", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033499" } ] }, { "id": "R-HSA-9033505", "name": "PEX1:PEX6:PEX26:ZFAND6:Ub:PEX5S,L:PEX14:PEX13:PEX2:PEX10:PEX12 dissociates yielding cytosolic Ub:PEX5S,L and membrane PEX14:PEX13:PEX2:PEX10:PEX12", "equation": "", "summary": "Ubiquitinated PEX5 isoform S or isoform L (Ub:PEX5S,L) is released from the peroxisomal membrane and interaction with the Docking and Translocation Module by PEX1:PEX6:PEX26:ZFAND6 (the peroxisomal AAA ATPase complex, receptor export module) (Tamura et al. 2014, Law et al. 2017, also inferred from yeast homologs). PEX1 and PEX6 form a cytosolic hexameric ring that is anchored to the peroxisomal membrane by PEX26. Hydrolysis of ATP by PEX1 and PEX6 appears to cause a conformational change in PEX1:PEX6:PEX26:ZFAND6 that releases Ub:PEX5S,L from the peroxisomal membrane and into the cytosol (reviewed in Saffert et al. 2017).", "cellular_location": "peroxisomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43933-1", "P28328-1", "Q13608-1", "O60683-1" ], "evidence": [ { "id": "R-HSA-9033505", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033505" } ] }, { "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" } ] }, { "id": "R-HSA-9033516", "name": "PEX2:PEX10:PEX12:Ub:PEX5L:PEX7:PEX13:PEX14 binds PEX1:PEX6:PEX26 and ZFAND6", "equation": "", "summary": "PEX1:PEX6:PEX26 (known as the Receptor Export Module) extracts ubiquitinated PEX5L from the peroxisomal membrane Docking and Translocation Module (Tamura et al. 2006, Tamura et al. 2014). PEX1 and PEX6 are soluble proteins that form a hexameric ring bound to PEX26 in the peroxisomal membrane (Matsumoto et al. 2003, Welle et al. 2005). ZFAND6 (AWP1) probably binds to ubiquitinated PEX5 and PEX6 and acts as an export factor (Miyata et al. 2012).", "cellular_location": "peroxisomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43933-1", "P28328-1", "Q13608-1", "O60683-1" ], "evidence": [ { "id": "R-HSA-9033516", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033516" } ] }, { "id": "R-HSA-9033527", "name": "PEX2:PEX10:PEX12 binds PEX5L (in PEX5L:PEX7:PEX13:PEX14:PEX2:PEX10:PEX12) and Ub:UBE2D1,2,3", "equation": "", "summary": "A RING E3 ubiquitin ligase sub-complex containing PEX10, PEX12, and PEX2 ubiquitinates PEX5L. PEX10:PEX12:PEX2 is believed to bind an activated E2-ubiquitin conjugate (one of Ub:UBE2D1, Ub:UBE2D2, Ub:UBE2D3) and PEX5L in a complex that also contains PEX13 and PEX14 (Chang et al. 1999, Carvalho et al. 2007, Grou et al. 2008, Grou et al. 2009, Okumoto et al. 2011).", "cellular_location": "peroxisomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P28328-1", "O60683-1", "P51668-1", "P61077-1", "P62837-1" ], "evidence": [ { "id": "R-HSA-9033527", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033527" } ] }, { "id": "R-HSA-9033533", "name": "PEX2:PEX10:PEX12:Ub:PEX5S,L:PEX13:PEX14 binds PEX1:PEX6:PEX26 and ZFAND6", "equation": "", "summary": "PEX1:PEX6:PEX26 (also known as the Receptor Export Module or peroxisomal AAA ATPase complex) extracts ubiquitinated PEX5S or PEX5L in the peroxisomal membrane (Tamura et al. 2006, Tamura et al. 2014). PEX1 and PEX6 are soluble proteins that form a hexameric ring bound to PEX26 in the peroxisomal membrane (Matsumoto et al. 2003, Weller et al. 2005). ZFAND6 (AWP1) probably binds to ubiquitinated PEX5 and PEX6 and acts as an export factor (Miyata et al. 2012).", "cellular_location": "peroxisomal membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "O43933-1", "P28328-1", "Q13608-1", "O60683-1" ], "evidence": [ { "id": "R-HSA-9033533", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033533" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-9033107", "participant_name": "PEX7 [cytosol]", "crossref": [ { "id": "ENSG00000112357", "database": "Ensembl", "url": "" }, { "id": "ENSP00000315680", "database": "Ensembl", "url": "" }, { "id": "NP_000279.1", "database": "RefSeq", "url": "" }, { "id": "O00628", "database": "Pharos - Targets", "url": "" }, { "id": "ENST00000541292", "database": "Ensembl", "url": "" }, { "id": "O00628", "database": "UniProt", "url": "" }, { "id": "O00628", "database": "PRO", "url": "" }, { "id": "ENSP00000441004", "database": "Ensembl", "url": "" }, { "id": "ENSG00000112357", "database": "OpenTargets", "url": "" }, { "id": "ENST00000318471", "database": "Ensembl", "url": "" }, { "id": "O00628", "database": "GeneCards", "url": "" }, { "id": "ENSG00000112357-PEX7", "database": "HPA", "url": "" } ] }, { "participant_id": "R-HSA-9033138", "participant_name": "ZFAND6 [cytosol]", "crossref": [ { "id": "NP_001229842.1", "database": "RefSeq", "url": "" }, { "id": "ENSP00000453888", "database": "Ensembl", "url": "" }, { "id": "ENSP00000478129", "database": "Ensembl", "url": "" }, { "id": "ENSP00000479071", "database": "Ensembl", "url": "" }, { "id": "Q6FIF0", "database": "GeneCards", "url": "" }, { "id": "Q6FIF0", "database": "Pharos - Targets", "url": "" }, { "id": "ENSP00000453291", "database": "Ensembl", "url": "" }, { "id": "ENSG00000086666-ZFAND6", "database": "HPA", "url": "" }, { "id": "ENSP00000261749", "database": "Ensembl", "url": "" }, { "id": "ENSP00000454137", "database": "Ensembl", "url": "" }, { "id": "ENSP00000454152", "database": "Ensembl", "url": "" }, { "id": "ENST00000558087", "database": "Ensembl", "url": "" }, { "id": "NP_001229843.1", "database": "RefSeq", "url": "" }, { "id": "NP_061879.2", "database": "RefSeq", "url": "" }, { "id": "ENST00000559775", "database": "Ensembl", "url": "" }, { "id": "ENSP00000453709", "database": "Ensembl", "url": "" }, { "id": "NP_001229845.1", "database": "RefSeq", "url": "" }, { "id": "Q6FIF0", "database": "UniProt", "url": "" }, { "id": "ENST00000559157", "database": "Ensembl", "url": "" }, { "id": "ENST00000558494", "database": "Ensembl", "url": "" }, { "id": "ENSP00000452735", "database": "Ensembl", "url": "" }, { "id": "ENST00000561060", "database": "Ensembl", "url": "" }, { "id": "NP_001229841.1", "database": "RefSeq", "url": "" }, { "id": "Q6FIF0", "database": "PRO", "url": "" }, { "id": "ENST00000613266", "database": "Ensembl", "url": "" }, { "id": "XP_011519986.1", "database": "RefSeq", "url": "" }, { "id": "ENSG00000086666", "database": "Ensembl", "url": "" }, { "id": "ENST00000616533", "database": "Ensembl", "url": "" }, { "id": "ENST00000559835", "database": "Ensembl", "url": "" }, { "id": "NP_001229840.1", "database": "RefSeq", "url": "" }, { "id": "ENST00000618205", "database": "Ensembl", "url": "" }, { "id": "NP_001229844.1", "database": "RefSeq", "url": "" }, { "id": "ENSG00000086666", "database": "OpenTargets", "url": "" }, { "id": "ENSP00000484971", "database": "Ensembl", "url": "" }, { "id": "ENST00000261749", "database": "Ensembl", "url": "" }, { "id": "NP_001229846.1", "database": "RefSeq", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "A8MXV4", "gene_name": "NUDT19", "activity": [ { "ec_number": "3.6.1.-", "activity": "", "evidence": [ { "id": "A8MXV4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A8MXV4" } ] } ] }, { "uniprot_ac": "O00116", "gene_name": "AGPS", "activity": [ { "ec_number": "2.5.1.26", "activity": "a 1-acylglycerone 3-phosphate + a long chain fatty alcohol = 1-O-alkylglycerone 3-phosphate + a long-chain fatty acid + H(+).", "evidence": [ { "id": "O00116", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00116" } ] }, { "ec_number": "2.5.1.26", "activity": "", "evidence": [ { "id": "O00116", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00116" } ] } ] }, { "uniprot_ac": "O14734", "gene_name": "ACOT8", "activity": [ { "ec_number": "3.1.2.2", "activity": "H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate.", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.2", "activity": "", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.27", "activity": "(3S)-hydroxy-3-methylglutaryl-CoA + H2O = 3-hydroxy-3-methylglutarate + CoA + H(+).", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.1", "activity": "acetyl-CoA + H2O = acetate + CoA + H(+).", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.11", "activity": "acetoacetyl-CoA + H2O = acetoacetate + CoA + H(+).", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.3", "activity": "H2O + succinyl-CoA = CoA + H(+) + succinate.", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.5", "activity": "(3S)-hydroxy-3-methylglutaryl-CoA + H2O = 3-hydroxy-3-methylglutarate + CoA + H(+).", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.3", "activity": "", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.1", "activity": "", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.5", "activity": "", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] }, { "ec_number": "3.1.2.11", "activity": "", "evidence": [ { "id": "O14734", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14734" } ] } ] }, { "uniprot_ac": "O14832", "gene_name": "PHYH", "activity": [ { "ec_number": "1.14.11.18", "activity": "2-oxoglutarate + O2 + phytanoyl-CoA = 2-hydroxyphytanoyl-CoA + CO2 + succinate.", "evidence": [ { "id": "O14832", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14832" } ] }, { "ec_number": "1.14.11.18", "activity": "", "evidence": [ { "id": "O14832", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14832" } ] } ] }, { "uniprot_ac": "O14975", "gene_name": "SLC27A2", "activity": [ { "ec_number": "6.2.1.3", "activity": "a long-chain fatty acid + ATP + CoA = a long-chain fatty acyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.-", "activity": "", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.7", "activity": "(25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oate + ATP + CoA = (25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.24", "activity": "3,7,11,15-tetramethylhexadecanoate + ATP + CoA = AMP + diphosphate + phytanoyl-CoA.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.15", "activity": "(5Z,8Z,11Z,14Z)-eicosatetraenoate + ATP + CoA = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + AMP + diphosphate.", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] }, { "ec_number": "6.2.1.3", "activity": "", "evidence": [ { "id": "O14975", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14975" } ] } ] }, { "uniprot_ac": "O15228", "gene_name": "GNPAT", "activity": [ { "ec_number": "2.3.1.42", "activity": "an acyl-CoA + dihydroxyacetone phosphate = a 1-acylglycerone 3-phosphate + CoA.", "evidence": [ { "id": "O15228", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15228" } ] }, { "ec_number": "2.3.1.42", "activity": "", "evidence": [ { "id": "O15228", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15228" } ] } ] }, { "uniprot_ac": "O15254", "gene_name": "ACOX3", "activity": [ { "ec_number": "1.3.3.6", "activity": "a 2,3-saturated acyl-CoA + O2 = a (2E)-enoyl-CoA + H2O2.", "evidence": [ { "id": "O15254", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15254" } ] }, { "ec_number": "1.3.3.6", "activity": "", "evidence": [ { "id": "O15254", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15254" } ] } ] }, { "uniprot_ac": "O43933", "gene_name": "PEX1", "activity": [ { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "O43933", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O43933" } ] } ] }, { "uniprot_ac": "O60683", "gene_name": "PEX10", "activity": [ { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "O60683", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60683" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "O60683", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60683" } ] } ] }, { "uniprot_ac": "O75874", "gene_name": "IDH1", "activity": [ { "ec_number": "1.1.1.42", "activity": "D-threo-isocitrate + NADP(+) = 2-oxoglutarate + CO2 + NADPH.", "evidence": [ { "id": "O75874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75874" } ] }, { "ec_number": "1.1.1.42", "activity": "", "evidence": [ { "id": "O75874", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75874" } ] } ] }, { "uniprot_ac": "P04040", "gene_name": "CAT", "activity": [ { "ec_number": "1.11.1.6", "activity": "2 H2O2 = 2 H2O + O2.", "evidence": [ { "id": "P04040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04040" } ] }, { "ec_number": "1.11.1.6", "activity": "", "evidence": [ { "id": "P04040", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04040" } ] } ] }, { "uniprot_ac": "P09110", "gene_name": "ACAA1", "activity": [ { "ec_number": "2.3.1.9", "activity": "2 acetyl-CoA = acetoacetyl-CoA + CoA.", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] }, { "ec_number": "2.3.1.9", "activity": "", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] }, { "ec_number": "2.3.1.16", "activity": "acetyl-CoA + an acyl-CoA = a 3-oxoacyl-CoA + CoA.", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] }, { "ec_number": "2.3.1.155", "activity": "acetyl-CoA + tetradecanoyl-CoA = 3-oxohexadecanoyl-CoA + CoA.", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] }, { "ec_number": "2.3.1.16", "activity": "", "evidence": [ { "id": "P09110", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P09110" } ] } ] }, { "uniprot_ac": "P0C024", "gene_name": "NUDT7", "activity": [ { "ec_number": "3.6.1.-", "activity": "", "evidence": [ { "id": "P0C024", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0C024" } ] } ] }, { "uniprot_ac": "P14735", "gene_name": "IDE", "activity": [ { "ec_number": "3.4.24.56", "activity": "Degradation of insulin, glucagon and other polypeptides. No action on proteins.", "evidence": [ { "id": "P14735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14735" } ] }, { "ec_number": "3.4.24.56", "activity": "", "evidence": [ { "id": "P14735", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14735" } ] } ] }, { "uniprot_ac": "P14920", "gene_name": "DAO", "activity": [ { "ec_number": "1.4.3.3", "activity": "a D-alpha-amino acid + H2O + O2 = a 2-oxocarboxylate + H2O2 + NH4(+).", "evidence": [ { "id": "P14920", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14920" } ] }, { "ec_number": "1.4.3.3", "activity": "", "evidence": [ { "id": "P14920", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P14920" } ] } ] }, { "uniprot_ac": "P21549", "gene_name": "AGXT", "activity": [ { "ec_number": "2.6.1.51", "activity": "L-serine + pyruvate = 3-hydroxypyruvate + L-alanine.", "evidence": [ { "id": "P21549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21549" } ] }, { "ec_number": "2.6.1.44", "activity": "2-oxobutanoate + L-alanine = (2S)-2-aminobutanoate + pyruvate.", "evidence": [ { "id": "P21549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21549" } ] }, { "ec_number": "2.6.1.44", "activity": "", "evidence": [ { "id": "P21549", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P21549" } ] } ] }, { "uniprot_ac": "P22307", "gene_name": "SCP2", "activity": [ { "ec_number": "2.3.1.176", "activity": "4,8,12-trimethyltridecanoyl-CoA + propanoyl-CoA = 3-oxopristanoyl-CoA + CoA.", "evidence": [ { "id": "P22307", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22307" } ] }, { "ec_number": "2.3.1.176", "activity": "", "evidence": [ { "id": "P22307", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22307" } ] }, { "ec_number": "2.3.1.16", "activity": "acetyl-CoA + an acyl-CoA = a 3-oxoacyl-CoA + CoA.", "evidence": [ { "id": "P22307", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22307" } ] }, { "ec_number": "2.3.1.155", "activity": "acetyl-CoA + tetradecanoyl-CoA = 3-oxohexadecanoyl-CoA + CoA.", "evidence": [ { "id": "P22307", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P22307" } ] } ] }, { "uniprot_ac": "P28328", "gene_name": "PEX2", "activity": [ { "ec_number": "2.3.2.36", "activity": "[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-cysteine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-S-ubiquitinyl-L-cysteine.", "evidence": [ { "id": "P28328", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28328" } ] }, { "ec_number": "2.3.2.36", "activity": "", "evidence": [ { "id": "P28328", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28328" } ] }, { "ec_number": "2.3.2.27", "activity": "S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "P28328", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28328" } ] }, { "ec_number": "2.3.2.27", "activity": "", "evidence": [ { "id": "P28328", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P28328" } ] } ] }, { "uniprot_ac": "P35228", "gene_name": "NOS2", "activity": [ { "ec_number": "1.14.13.39", "activity": "H(+) + 2 L-arginine + 3 NADPH + 4 O2 = 4 H2O + 2 L-citrulline + 3 NADP(+) + 2 nitric oxide.", "evidence": [ { "id": "P35228", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35228" } ] }, { "ec_number": "1.14.13.39", "activity": "", "evidence": [ { "id": "P35228", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35228" } ] } ] }, { "uniprot_ac": "P35914", "gene_name": "HMGCL", "activity": [ { "ec_number": "4.1.3.4", "activity": "(3S)-hydroxy-3-methylglutaryl-CoA = acetoacetate + acetyl-CoA.", "evidence": [ { "id": "P35914", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35914" } ] }, { "ec_number": "4.1.3.4", "activity": "", "evidence": [ { "id": "P35914", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P35914" } ] } ] }, { "uniprot_ac": "P43155", "gene_name": "CRAT", "activity": [ { "ec_number": "2.3.1.137", "activity": "(R)-carnitine + octanoyl-CoA = CoA + O-octanoyl-(R)-carnitine.", "evidence": [ { "id": "P43155", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43155" } ] }, { "ec_number": "2.3.1.7", "activity": "(R)-carnitine + acetyl-CoA = CoA + O-acetyl-(R)-carnitine.", "evidence": [ { "id": "P43155", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43155" } ] }, { "ec_number": "2.3.1.7", "activity": "", "evidence": [ { "id": "P43155", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43155" } ] }, { "ec_number": "2.3.1.137", "activity": "", "evidence": [ { "id": "P43155", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P43155" } ] } ] }, { "uniprot_ac": "P49753", "gene_name": "ACOT2", "activity": [ { "ec_number": "3.1.2.2", "activity": "H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate.", "evidence": [ { "id": "P49753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49753" } ] }, { "ec_number": "3.1.2.2", "activity": "", "evidence": [ { "id": "P49753", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49753" } ] } ] }, { "uniprot_ac": "P51668", "gene_name": "UBE2D1", "activity": [ { "ec_number": "2.3.2.24", "activity": "S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E1 ubiquitin-activating enzyme]-L-cysteine + N(6)-monoubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "P51668", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51668" } ] }, { "ec_number": "2.3.2.23", "activity": "S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin-activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine.", "evidence": [ { "id": "P51668", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51668" } ] }, { "ec_number": "2.3.2.23", "activity": "", "evidence": [ { "id": "P51668", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51668" } ] } ] }, { "uniprot_ac": "P61077", "gene_name": "UBE2D3", "activity": [ { "ec_number": "2.3.2.24", "activity": "S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E1 ubiquitin-activating enzyme]-L-cysteine + N(6)-monoubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "P61077", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61077" } ] }, { "ec_number": "2.3.2.23", "activity": "S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin-activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine.", "evidence": [ { "id": "P61077", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61077" } ] }, { "ec_number": "2.3.2.24", "activity": "", "evidence": [ { "id": "P61077", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61077" } ] }, { "ec_number": "2.3.2.23", "activity": "", "evidence": [ { "id": "P61077", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61077" } ] } ] }, { "uniprot_ac": "P62837", "gene_name": "UBE2D2", "activity": [ { "ec_number": "2.3.2.24", "activity": "S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E1 ubiquitin-activating enzyme]-L-cysteine + N(6)-monoubiquitinyl-[acceptor protein]-L-lysine.", "evidence": [ { "id": "P62837", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62837" } ] }, { "ec_number": "2.3.2.23", "activity": "S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin-activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine.", "evidence": [ { "id": "P62837", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62837" } ] }, { "ec_number": "2.3.2.23", "activity": "", "evidence": [ { "id": "P62837", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P62837" } ] } ] }, { "uniprot_ac": "Q13011", "gene_name": "ECH1", "activity": [ { "ec_number": "5.3.3.-", "activity": "", "evidence": [ { "id": "Q13011", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13011" } ] } ] }, { "uniprot_ac": "Q13608", "gene_name": "PEX6", "activity": [ { "ec_number": "3.6.4.-", "activity": "", "evidence": [ { "id": "Q13608", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q13608" } ] } ] }, { "uniprot_ac": "Q14032", "gene_name": "BAAT", "activity": [ { "ec_number": "3.1.2.2", "activity": "H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate.", "evidence": [ { "id": "Q14032", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14032" } ] }, { "ec_number": "3.1.2.27", "activity": "(3S)-hydroxy-3-methylglutaryl-CoA + H2O = 3-hydroxy-3-methylglutarate + CoA + H(+).", "evidence": [ { "id": "Q14032", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14032" } ] }, { "ec_number": "2.3.1.65", "activity": "choloyl-CoA + glycine = CoA + glycocholate + H(+).", "evidence": [ { "id": "Q14032", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14032" } ] }, { "ec_number": "2.3.1.65", "activity": "", "evidence": [ { "id": "Q14032", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14032" } ] } ] }, { "uniprot_ac": "Q15067", "gene_name": "ACOX1", "activity": [ { "ec_number": "1.3.3.6", "activity": "a 2,3-saturated acyl-CoA + O2 = a (2E)-enoyl-CoA + H2O2.", "evidence": [ { "id": "Q15067", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15067" } ] }, { "ec_number": "1.3.3.6", "activity": "", "evidence": [ { "id": "Q15067", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q15067" } ] } ] }, { "uniprot_ac": "Q2T9J0", "gene_name": "TYSND1", "activity": [ { "ec_number": "3.4.21.-", "activity": "", "evidence": [ { "id": "Q2T9J0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q2T9J0" } ] } ] }, { "uniprot_ac": "Q6QHF9", "gene_name": "PAOX", "activity": [ { "ec_number": "1.5.3.13", "activity": "H2O + N(1)-acetylspermine + O2 = 3-acetamidopropanal + H2O2 + spermidine.", "evidence": [ { "id": "Q6QHF9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6QHF9" } ] }, { "ec_number": "1.5.3.13", "activity": "", "evidence": [ { "id": "Q6QHF9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6QHF9" } ] } ] }, { "uniprot_ac": "Q86WA8", "gene_name": "LONP2", "activity": [ { "ec_number": "3.4.21.53", "activity": "Hydrolysis of proteins in presence of ATP.", "evidence": [ { "id": "Q86WA8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86WA8" } ] }, { "ec_number": "3.4.21.53", "activity": "", "evidence": [ { "id": "Q86WA8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86WA8" } ] } ] }, { "uniprot_ac": "Q8N9L9", "gene_name": "ACOT4", "activity": [ { "ec_number": "3.1.2.2", "activity": "H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate.", "evidence": [ { "id": "Q8N9L9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N9L9" } ] }, { "ec_number": "3.1.2.3", "activity": "H2O + succinyl-CoA = CoA + H(+) + succinate.", "evidence": [ { "id": "Q8N9L9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N9L9" } ] }, { "ec_number": "3.1.2.3", "activity": "", "evidence": [ { "id": "Q8N9L9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N9L9" } ] } ] }, { "uniprot_ac": "Q99424", "gene_name": "ACOX2", "activity": [ { "ec_number": "1.17.99.3", "activity": "(25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA + A + H2O = (24R,25R)-3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestan-26-oyl-CoA + AH2.", "evidence": [ { "id": "Q99424", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99424" } ] }, { "ec_number": "1.17.99.3", "activity": "", "evidence": [ { "id": "Q99424", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99424" } ] } ] }, { "uniprot_ac": "Q99489", "gene_name": "DDO", "activity": [ { "ec_number": "1.4.3.1", "activity": "D-aspartate + H2O + O2 = H2O2 + NH4(+) + oxaloacetate.", "evidence": [ { "id": "Q99489", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99489" } ] }, { "ec_number": "1.4.3.1", "activity": "", "evidence": [ { "id": "Q99489", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99489" } ] } ] }, { "uniprot_ac": "Q9BTZ2", "gene_name": "DHRS4", "activity": [ { "ec_number": "1.1.1.184", "activity": "a secondary alcohol + NADP(+) = a ketone + H(+) + NADPH.", "evidence": [ { "id": "Q9BTZ2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTZ2" } ] }, { "ec_number": "1.1.1.184", "activity": "", "evidence": [ { "id": "Q9BTZ2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BTZ2" } ] } ] }, { "uniprot_ac": "Q9BY49", "gene_name": "PECR", "activity": [ { "ec_number": "1.3.1.38", "activity": "a (2E)-enoyl-CoA + H(+) + NADPH = a 2,3-saturated acyl-CoA + NADP(+).", "evidence": [ { "id": "Q9BY49", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BY49" } ] }, { "ec_number": "1.3.1.38", "activity": "", "evidence": [ { "id": "Q9BY49", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9BY49" } ] } ] }, { "uniprot_ac": "Q9NUI1", "gene_name": "DECR2", "activity": [ { "ec_number": "1.3.1.124", "activity": "a (2E,4E)-dienoyl-CoA + H(+) + NADPH = a 4,5-saturated-(3E)-enoyl-CoA + NADP(+).", "evidence": [ { "id": "Q9NUI1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NUI1" } ] }, { "ec_number": "1.3.1.124", "activity": "", "evidence": [ { "id": "Q9NUI1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NUI1" } ] } ] }, { "uniprot_ac": "Q9NYQ3", "gene_name": "HAO2", "activity": [ { "ec_number": "1.1.3.15", "activity": "glycolate + O2 = glyoxylate + H2O2.", "evidence": [ { "id": "Q9NYQ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NYQ3" } ] }, { "ec_number": "1.1.3.15", "activity": "", "evidence": [ { "id": "Q9NYQ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NYQ3" } ] } ] }, { "uniprot_ac": "Q9P0Z9", "gene_name": "PIPOX", "activity": [ { "ec_number": "1.5.3.1", "activity": "H2O + O2 + sarcosine = formaldehyde + glycine + H2O2.", "evidence": [ { "id": "Q9P0Z9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0Z9" } ] }, { "ec_number": "1.5.3.1", "activity": "", "evidence": [ { "id": "Q9P0Z9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0Z9" } ] }, { "ec_number": "1.5.3.7", "activity": "L-pipecolate + O2 = H(+) + H2O2 + L-1-piperideine-6-carboxylate.", "evidence": [ { "id": "Q9P0Z9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0Z9" } ] }, { "ec_number": "1.5.3.7", "activity": "", "evidence": [ { "id": "Q9P0Z9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9P0Z9" } ] } ] }, { "uniprot_ac": "Q9UHK6", "gene_name": "AMACR", "activity": [ { "ec_number": "5.1.99.4", "activity": "a (2S)-2-methylacyl-CoA = a (2R)-2-methylacyl-CoA.", "evidence": [ { "id": "Q9UHK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UHK6" } ] }, { "ec_number": "5.1.99.4", "activity": "", "evidence": [ { "id": "Q9UHK6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UHK6" } ] } ] }, { "uniprot_ac": "Q9UJ83", "gene_name": "HACL1", "activity": [ { "ec_number": "4.1.2.63", "activity": "2-hydroxy-3-methylhexadecanoyl-CoA = 2-methylpentadecanal + formyl-CoA.", "evidence": [ { "id": "Q9UJ83", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UJ83" } ] }, { "ec_number": "4.1.2.63", "activity": "", "evidence": [ { "id": "Q9UJ83", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UJ83" } ] } ] }, { "uniprot_ac": "Q9UJM8", "gene_name": "HAO1", "activity": [ { "ec_number": "1.1.3.15", "activity": "glycolate + O2 = glyoxylate + H2O2.", "evidence": [ { "id": "Q9UJM8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UJM8" } ] }, { "ec_number": "1.2.3.5", "activity": "glyoxylate + H2O + O2 = H(+) + H2O2 + oxalate.", "evidence": [ { "id": "Q9UJM8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UJM8" } ] }, { "ec_number": "1.1.3.15", "activity": "", "evidence": [ { "id": "Q9UJM8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UJM8" } ] } ] }, { "uniprot_ac": "Q9UKG9", "gene_name": "CROT", "activity": [ { "ec_number": "2.3.1.137", "activity": "(R)-carnitine + octanoyl-CoA = CoA + O-octanoyl-(R)-carnitine.", "evidence": [ { "id": "Q9UKG9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UKG9" } ] }, { "ec_number": "2.3.1.137", "activity": "", "evidence": [ { "id": "Q9UKG9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UKG9" } ] } ] }, { "uniprot_ac": "Q9Y2Q3", "gene_name": "GSTK1", "activity": [ { "ec_number": "2.5.1.18", "activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).", "evidence": [ { "id": "Q9Y2Q3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q3" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "Q9Y2Q3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q3" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 89 ], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 101 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }