{ "uniprot_canonical_ac": "O00623-1", "uniprot_ac": "O00623", "uniprot_id": "PEX12_HUMAN", "mass": { "chemical_mass": 40797.0, "monoisotopic_mass": 40797.0 }, "refseq": { "ac": "NP_000277", "name": "peroxisome assembly protein 12", "summary": "This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000277" }, "gene_names": [ { "name": "PEX12", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00623", "id": "O00623" }, { "name": "PAF-3; PBD3A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000277", "id": "NP_000277" }, { "name": "PAF3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00623", "id": "O00623" }, { "name": "PEX12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000277", "id": "NP_000277" } ], "protein_names": [ { "name": "Peroxisome assembly protein 12", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00623" }, { "name": "PAF-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00623" }, { "name": "Peroxin-12", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00623" }, { "name": "Peroxisome assembly factor 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00623" }, { "name": "peroxin 12; peroxisome assembly factor 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000277", "id": "NP_000277" }, { "name": "peroxisome assembly protein 12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000277", "id": "NP_000277" } ], "function": [ { "annotation": "A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.", "evidence": [ { "database": "RefSeq", "id": "NP_000277", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000277" }, { "database": "PubMed", "id": "33123925", "url": "https://glygen.org/publication/PubMed/33123925" } ] }, { "annotation": "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:9354782, PubMed:9632816, 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). PEX12 also regulates PEX5 recycling by activating the E3 ubiquitin-protein ligase activity of PEX10 (PubMed:24662292). When PEX5 recycling is compromised, PEX12 stimulates PEX10-mediated polyubiquitination of PEX5, leading to its subsequent degradation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O00623", "url": "https://www.uniprot.org/uniprot/O00623#function" }, { "database": "PubMed", "id": "24662292", "url": "https://glygen.org/publication/PubMed/24662292" }, { "database": "PubMed", "id": "9632816", "url": "https://glygen.org/publication/PubMed/9632816" }, { "database": "PubMed", "id": "9354782", "url": "https://glygen.org/publication/PubMed/9354782" }, { "database": "UniProtKB", "id": "Q04370", "url": "https://www.uniprot.org/uniprot/Q04370#function" }, { "database": "UniProtKB", "id": "A0A075B773", "url": "https://www.uniprot.org/uniprot/A0A075B773#function" }, { "database": "UniProtKB", "id": "PIRNR038074", "url": "https://www.uniprot.org/uniprot/PIRNR038074#function" } ] }, { "annotation": "This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000277", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000277" } ] } ], "disease": [ { "disease_id": "DOID:0080478", "recommended_name": { "id": "DOID:0080478", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080478", "name": "peroxisome biogenesis disorder 3A", "description": "A peroxisomal biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17." }, "synonyms": [ { "id": "DOID:0080478", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080478", "name": "peroxisome biogenesis disorder 3A (Zellweger)", "description": "" }, { "id": "MONDO:0013927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013927", "name": "peroxisome biogenesis disorder 3A (Zellweger)", "description": "" }, { "id": "MONDO:0013927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013927", "name": "peroxisome biogenesis disorder 3A (Zellweger)", "description": "" }, { "id": "MONDO:0013927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013927", "name": "PBD3A", "description": "" }, { "id": "MONDO:0013927", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013927", "name": "peroxisome biogenesis disorder, complementation group 3", "description": "" }, { "id": "MIM:614859", "resource": "MIM", "url": "https://www.omim.org/entry/614859", "name": "Peroxisome biogenesis disorder 3A", "description": "Peroxisome biogenesis disorder 3A" } ], "evidence": [ { "id": "614859", "database": "MIM", "url": "https://www.omim.org/entry/614859" } ] }, { "disease_id": "DOID:0081241", "recommended_name": { "id": "DOID:0081241", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081241", "name": "peroxisome biogenesis disorder 3B", "description": "A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17." }, "synonyms": [ { "id": "MONDO:0009959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009959", "name": "peroxisome biogenesis disorder type 3B", "description": "A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation." }, { "id": "MONDO:0009959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009959", "name": "infantile phytanic acid storage disease", "description": "" }, { "id": "MONDO:0009959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009959", "name": "peroxisome biogenesis disorder 3B", "description": "" }, { "id": "MONDO:0009959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009959", "name": "peroxisome biogenesis disorder type 3B", "description": "" }, { "id": "MONDO:0009959", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009959", "name": "PBD3B", "description": "" }, { "id": "MIM:266510", "resource": "MIM", "url": "https://www.omim.org/entry/266510", "name": "Peroxisome biogenesis disorder 3B", "description": "Peroxisome biogenesis disorder 3B" } ], "evidence": [ { "id": "266510", "database": "MIM", "url": "https://www.omim.org/entry/266510" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 304, "end_pos": 304, "sequence_org": "C", "sequence_mut": "W", "comment": "Abolishes ability to activate the E3 ubiquitin-protein ligase activity of PEX10. Abolishes interaction with PEX19; when associated with Q-307.", "evidence": [ { "database": "UniProtKB", "id": "O00623", "url": "https://www.uniprot.org/uniprot/O00623" }, { "database": "PubMed", "id": "11390669", "url": "https://glygen.org/publication/PubMed/11390669" }, { "database": "PubMed", "id": "24662292", "url": "https://glygen.org/publication/PubMed/24662292" } ] }, { "start_pos": 307, "end_pos": 307, "sequence_org": "C", "sequence_mut": "Q", "comment": "Abolishes interaction with PEX19; when associated with W-304.", "evidence": [ { "database": "UniProtKB", "id": "O00623", "url": "https://www.uniprot.org/uniprot/O00623" }, { "database": "PubMed", "id": "11390669", "url": "https://glygen.org/publication/PubMed/11390669" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "73.5", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108733", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108733" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "69.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108733", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108733" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "76.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108733", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108733" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "74.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108733", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108733" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "78.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108733", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108733" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "75.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108733", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108733" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "72.53", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108733", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108733" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "76.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108733", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108733" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "73.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108733", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108733" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "73.41", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108733", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108733" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "72.51", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108733", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108733" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "72.19", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108733", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108733" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "73.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108733", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108733" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00623", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00623" } ], "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, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00623", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00623" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00623", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00623" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00623", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00623" } ], "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": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O00623", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00623" } ], "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": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O00623", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00623" } ], "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00623", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00623" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O00623", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00623" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O00623", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00623" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O00623", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00623" } ], "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": "Yes", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O00623", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00623" } ], "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 located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of 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"categories": [ "Protein" ] } ], "sequence": { "sequence": "MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFDEIFTLLDLLLQQHYLSRTSASFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFLAAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQQPARSVSEKINSALKKAVGGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALPTPPPPVHLDYNSDSPLLPKMKTVCPLCRKTRVNDTVLATSGYVFCYRCVFHYVRSHQACPITGYPTEVQHLIKLYSPEN", "length": 359, "header": "sp|O00623-1|PEX12_HUMAN Isoform 1 of Peroxisome assembly protein 12 OS=Homo sapiens OX=9606 GN=PEX12 PE=1 SV=1 CANONICAL=O00623-1" }, "isoforms": [ { "isoform_ac": "A0A075B773-1", "url": "", "sequence": { "sequence": "MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFDEIFTLLDLLLQQHYLSRTSASFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFLAAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQQPARSVSEKINSALKKAVGGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALPTPPPPVHLDYNSDSPLLPKMKTVCPLCRKTRVNDTVLATSGYVFCYRCVFHYVRSHQACPITGYPTEVQHLIKLYSP", "length": 357, "header": "tr|A0A075B773-1|A0A075B773_HUMAN Computationally mapped isoform of Peroxisome assembly protein 12 OS=Homo sapiens OX=9606 GN=PEX12 PE=1 SV=2 CANONICAL=O00623-1" }, "locus": { "chromosome": "17", "start_pos": 35578021, "end_pos": 35575791, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000586663.2", "url": "https://www.ensembl.org/id/ENST00000586663.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000466894.2", "url": "https://www.ensembl.org/id/ENSP00000466894.2" } ] } }, { "isoform_ac": "K7ELY8-1", "url": "", "sequence": { "sequence": "MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFDEIFTLLDLLLQQHYLSRTSASFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFLAAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMM", "length": 221, "header": "tr|K7ELY8-1|K7ELY8_HUMAN Computationally mapped isoform of Peroxisomal biogenesis factor 12 OS=Homo sapiens OX=9606 GN=PEX12 PE=1 SV=1 CANONICAL=O00623-1" }, "locus": { "chromosome": "17", "start_pos": 35578021, "end_pos": 35577055, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000585380.1", "url": "https://www.ensembl.org/id/ENST00000585380.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000466280.1", "url": "https://www.ensembl.org/id/ENSP00000466280.1" } ] } }, { "isoform_ac": "O00623-1", "url": "", "sequence": { "sequence": "MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFDEIFTLLDLLLQQHYLSRTSASFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREEDEYSIHPPSSRWKRFYRAFLAAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQALEHKPAKASMMQQPARSVSEKINSALKKAVGGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALPTPPPPVHLDYNSDSPLLPKMKTVCPLCRKTRVNDTVLATSGYVFCYRCVFHYVRSHQACPITGYPTEVQHLIKLYSPEN", "length": 359, "header": "sp|O00623-1|PEX12_HUMAN Isoform 1 of Peroxisome assembly protein 12 OS=Homo sapiens OX=9606 GN=PEX12 PE=1 SV=1 CANONICAL=O00623-1" }, "locus": { "chromosome": "17", "start_pos": 35578021, "end_pos": 35575785, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000225873.9", "url": "https://www.ensembl.org/id/ENST00000225873.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000225873.3", "url": "https://www.ensembl.org/id/ENSP00000225873.3" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "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": "Identification and characterization of the human peroxin PEX3.", "journal": "European journal of cell biology", "date": "1999", "authors": "Soukupova M, Sprenger C, Gorgas K, Kunau WH, Dodt G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "10430017", "url": "https://glygen.org/publication/PubMed/10430017" } ] }, { "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": "UniProtKB", "id": "O00623", "url": "https://www.uniprot.org/uniprot/O00623" }, { "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": "O00623", "url": "https://www.uniprot.org/uniprot/O00623" }, { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "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": "Molecular and cellular biology", "date": "2001", "authors": "Fransen M, Wylin T, Brees C, Mannaerts GP, Van Veldhoven PP", "evidence": [ { "database": "UniProtKB", "id": "O00623", "url": "https://www.uniprot.org/uniprot/O00623" }, { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "11390669", "url": "https://glygen.org/publication/PubMed/11390669" } ] }, { "title": "Multiple distinct targeting signals in integral peroxisomal membrane proteins.", "journal": "The Journal of cell biology", "date": "2001", "authors": "Jones JM, Morrell JC, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "11402059", "url": "https://glygen.org/publication/PubMed/11402059" } ] }, { "title": "Targeting elements in the amino-terminal part direct the human 70-kDa peroxisomal integral membrane protein (PMP70) to peroxisomes.", "journal": "Biochemical and biophysical research communications", "date": "2001", "authors": "Biermanns M, Gartner J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "11453642", "url": "https://glygen.org/publication/PubMed/11453642" } ] }, { "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": "Two different targeting signals direct human peroxisomal membrane protein 22 to peroxisomes.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Brosius U, Dehmel T, Gartner J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "11590176", "url": "https://glygen.org/publication/PubMed/11590176" } ] }, { "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": "Two splice variants of human PEX19 exhibit distinct functions in peroxisomal assembly.", "journal": "Biochemical and biophysical research communications", "date": "2002", "authors": "Mayerhofer PU, Kattenfeld T, Roscher AA, Muntau AC", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "11883941", "url": "https://glygen.org/publication/PubMed/11883941" } ] }, { "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 peroxisomal membrane targeting elements of human peroxin 2 (PEX2).", "journal": "European journal of cell biology", "date": "2003", "authors": "Biermanns M, von Laar J, Brosius U, Gartner J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "12751901", "url": "https://glygen.org/publication/PubMed/12751901" } ] }, { "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": "The interaction between human PEX3 and PEX19 characterized by fluorescence resonance energy transfer (FRET) analysis.", "journal": "European journal of cell biology", "date": "2003", "authors": "Muntau AC, Roscher AA, Kunau WH, Dodt G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "12924628", "url": "https://glygen.org/publication/PubMed/12924628" } ] }, { "title": "PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Jones JM, Morrell JC, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "14709540", "url": "https://glygen.org/publication/PubMed/14709540" } ] }, { "title": "PEX3 functions as a PEX19 docking factor in the import of class I peroxisomal membrane proteins.", "journal": "The Journal of cell biology", "date": "2004", "authors": "Fang Y, Morrell JC, Jones JM, Gould SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "15007061", "url": "https://glygen.org/publication/PubMed/15007061" } ] }, { "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": "Analysis of human Pex19p's domain structure by pentapeptide scanning mutagenesis.", "journal": "Journal of molecular biology", "date": "2005", "authors": "Fransen M, Vastiau I, Brees C, Brys V, Mannaerts GP, Van Veldhoven PP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "15713480", "url": "https://glygen.org/publication/PubMed/15713480" } ] }, { "title": "Function of the PEX19-binding site of human adrenoleukodystrophy protein as targeting motif in man and yeast. PMP targeting is evolutionarily conserved.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Halbach A, Lorenzen S, Landgraf C, Volkmer-Engert R, Erdmann R, Rottensteiner H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "15781447", "url": "https://glygen.org/publication/PubMed/15781447" } ] }, { "title": "Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.", "journal": "American journal of human genetics", "date": "2005", "authors": "Weller S, Cajigas I, Morrell J, Obie C, Steel G, Gould SJ, Valle D", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "15858711", "url": "https://glygen.org/publication/PubMed/15858711" } ] }, { "title": "In vitro transport of membrane proteins to peroxisomes by shuttling receptor Pex19p.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Matsuzono Y, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "16280322", "url": "https://glygen.org/publication/PubMed/16280322" } ] }, { "title": "Monoubiquitination of human histone H2B: the factors involved and their roles in HOX gene regulation.", "journal": "Molecular cell", "date": "2005", "authors": "Zhu B, Zheng Y, Pham AD, Mandal SS, Erdjument-Bromage H, Tempst P, Reinberg D", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "16307923", "url": "https://glygen.org/publication/PubMed/16307923" } ] }, { "title": "Farnesylation of Pex19p is not essential for peroxisome biogenesis in yeast and mammalian cells.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2006", "authors": "Vastiau IM, Anthonio EA, Brams M, Brees C, Young SG, Van de Velde S, Wanders RJ, Mannaerts GP, Baes M, Van Veldhoven PP, Fransen M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "16791427", "url": "https://glygen.org/publication/PubMed/16791427" } ] }, { "title": "Dynamic and functional assembly of the AAA peroxins, Pex1p and Pex6p, and their membrane receptor Pex26p.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Tamura S, Yasutake S, Matsumoto N, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "16854980", "url": "https://glygen.org/publication/PubMed/16854980" } ] }, { "title": "E2-25K mediates US11-triggered retro-translocation of MHC class I heavy chains in a permeabilized cell system.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Flierman D, Coleman CS, Pickart CM, Rapoport TA, Chau V", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "16868077", "url": "https://glygen.org/publication/PubMed/16868077" } ] }, { "title": "Functional domain mapping of peroxin Pex19p: interaction with Pex3p is essential for function and translocation.", "journal": "Journal of cell science", "date": "2006", "authors": "Matsuzono Y, Matsuzaki T, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "16895967", "url": "https://glygen.org/publication/PubMed/16895967" } ] }, { "title": "The import competence of a peroxisomal membrane protein is determined by Pex19p before the docking step.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Pinto MP, Grou CP, Alencastre IS, Oliveira ME, Sa-Miranda C, Fransen M, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "16980692", "url": "https://glygen.org/publication/PubMed/16980692" } ] }, { "title": "Peroxisome targeting signal 1: is it really a simple tripeptide?", "journal": "Biochimica et biophysica acta", "date": "2006", "authors": "Brocard C, Hartig A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "17007944", "url": "https://glygen.org/publication/PubMed/17007944" } ] }, { "title": "Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.", "journal": "Human mutation", "date": "2006", "authors": "Krause C, Rosewich H, Thanos M, Gartner J", "evidence": [ { "database": "UniProtKB", "id": "O00623", "url": "https://www.uniprot.org/uniprot/O00623" } ], "reference": [ { "type": "PubMed", "id": "17041890", "url": "https://glygen.org/publication/PubMed/17041890" } ] }, { "title": "Import of peroxisomal membrane proteins: the interplay of Pex3p- and Pex19p-mediated interactions.", "journal": "Biochimica et biophysica acta", "date": "2006", "authors": "Fujiki Y, Matsuzono Y, Matsuzaki T, Fransen M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "17069900", "url": "https://glygen.org/publication/PubMed/17069900" } ] }, { "title": "Human SHPRH is a ubiquitin ligase for Mms2-Ubc13-dependent polyubiquitylation of proliferating cell nuclear antigen.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2006", "authors": "Unk I, Hajdu I, Fatyol K, Szakal B, Blastyak A, Bermudez V, Hurwitz J, Prakash L, Prakash S, Haracska L", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "17108083", "url": "https://glygen.org/publication/PubMed/17108083" } ] }, { "title": "Human SHPRH suppresses genomic instability through proliferating cell nuclear antigen polyubiquitination.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Motegi A, Sood R, Moinova H, Markowitz SD, Liu PP, Myung K", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "17130289", "url": "https://glygen.org/publication/PubMed/17130289" } ] }, { "title": "A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C.", "journal": "Journal of human genetics", "date": "2007", "authors": "Zeharia A, Ebberink MS, Wanders RJA, Waterham HR, Gutman A, Nissenkorn A, Korman SH", "evidence": [ { "database": "UniProtKB", "id": "O00623", "url": "https://www.uniprot.org/uniprot/O00623" } ], "reference": [ { "type": "PubMed", "id": "17534573", "url": "https://glygen.org/publication/PubMed/17534573" } ] }, { "title": "Ubiquitination of mammalian Pex5p, the peroxisomal import receptor.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Carvalho AF, Pinto MP, Grou CP, Alencastre IS, Fransen M, Sa-Miranda C, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "17726030", "url": "https://glygen.org/publication/PubMed/17726030" } ] }, { "title": "Characterization of the interaction between recombinant human peroxin Pex3p and Pex19p: identification of TRP-104 IN Pex3p as a critical residue for the interaction.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Sato Y, Shibata H, Nakano H, Matsuzono Y, Kashiwayama Y, Kobayashi Y, Fujiki Y, Imanaka T, Kato H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "18174172", "url": "https://glygen.org/publication/PubMed/18174172" } ] }, { "title": "Human HLTF functions as a ubiquitin ligase for proliferating cell nuclear antigen polyubiquitination.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Unk I, Hajdu I, Fatyol K, Hurwitz J, Yoon JH, Prakash L, Prakash S, Haracska L", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "18316726", "url": "https://glygen.org/publication/PubMed/18316726" } ] }, { "title": "Members of the E2D (UbcH5) family mediate the ubiquitination of the conserved cysteine of Pex5p, the peroxisomal import receptor.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Grou CP, Carvalho AF, Pinto MP, Wiese S, Piechura H, Meyer HE, Warscheid B, Sa-Miranda C, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "18359941", "url": "https://glygen.org/publication/PubMed/18359941" } ] }, { "title": "Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.", "journal": "Human mutation", "date": "2009", "authors": "Ebberink MS, Mooyer PA, Koster J, Dekker CJ, Eyskens FJ, Dionisi-Vici C, Clayton PT, Barth PG, Wanders RJ, Waterham HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "18712838", "url": "https://glygen.org/publication/PubMed/18712838" } ] }, { "title": "Polyubiquitination of proliferating cell nuclear antigen by HLTF and SHPRH prevents genomic instability from stalled replication forks.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Motegi A, Liaw HJ, Lee KY, Roest HP, Maas A, Wu X, Moinova H, Markowitz SD, Ding H, Hoeijmakers JH, Myung K", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "18719106", "url": 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interactions of Pex14 with the import receptors Pex5 and Pex19.", "journal": "The EMBO journal", "date": "2009", "authors": "Neufeld C, Filipp FV, Simon B, Neuhaus A, Schuller N, David C, Kooshapur H, Madl T, Erdmann R, Schliebs W, Wilmanns M, Sattler M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "19197237", "url": "https://glygen.org/publication/PubMed/19197237" } ] }, { "title": "Properties of the ubiquitin-pex5p thiol ester conjugate.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Grou CP, Carvalho AF, Pinto MP, Huybrechts SJ, Sa-Miranda C, Fransen M, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "19208625", "url": "https://glygen.org/publication/PubMed/19208625" } ] }, { "title": 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peroxisome targeting signal 1(PTS1)-Pex5p affinities.", "journal": "Journal of the American Chemical Society", "date": "2010", "authors": "Ghosh D, Berg JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "20178365", "url": "https://glygen.org/publication/PubMed/20178365" } ] }, { "title": "The peroxisomal receptor Pex19p forms a helical mPTS recognition domain.", "journal": "The EMBO journal", "date": "2010", "authors": "Schueller N, Holton SJ, Fodor K, Milewski M, Konarev P, Stanley WA, Wolf J, Erdmann R, Schliebs W, Song YH, Wilmanns M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "20531392", "url": "https://glygen.org/publication/PubMed/20531392" } ] }, { "title": "Insights into peroxisome function from the structure of PEX3 in complex with a soluble fragment of PEX19.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Schmidt F, Treiber N, Zocher G, Bjelic S, Steinmetz MO, Kalbacher H, Stehle T, Dodt G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "20554521", "url": "https://glygen.org/publication/PubMed/20554521" } ] }, { "title": "Structural basis for docking of peroxisomal membrane protein carrier Pex19p onto its receptor Pex3p.", "journal": "The EMBO journal", "date": "2010", "authors": "Sato Y, Shibata H, Nakatsu T, Nakano H, Kashiwayama Y, Imanaka T, Kato H", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "21102411", "url": "https://glygen.org/publication/PubMed/21102411" } ] }, { "title": "RNF152, a novel lysosome localized E3 ligase with pro-apoptotic activities.", "journal": "Protein & cell", "date": "2010", "authors": "Zhang S, Wu W, Wu Y, Zheng J, Suo T, Tang H, Tang J", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "21203937", "url": "https://glygen.org/publication/PubMed/21203937" } ] }, { "title": "WAC, a functional partner of RNF20/40, regulates histone H2B ubiquitination and gene transcription.", "journal": "Molecular cell", "date": "2011", "authors": "Zhang F, Yu X", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "21329877", "url": "https://glygen.org/publication/PubMed/21329877" } ] }, { "title": "SHPRH and HLTF act in a damage-specific manner to coordinate different forms of postreplication repair and prevent mutagenesis.", "journal": "Molecular cell", "date": "2011", "authors": "Lin JR, Zeman MK, Chen JY, Yee MC, Cimprich KA", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "21396873", "url": "https://glygen.org/publication/PubMed/21396873" } ] }, { "title": "Cysteine ubiquitination of PTS1 receptor Pex5p regulates Pex5p recycling.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2011", "authors": "Okumoto K, Misono S, Miyata N, Matsumoto Y, Mukai S, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "21554508", "url": "https://glygen.org/publication/PubMed/21554508" } ] }, { "title": "PEX5 protein binds monomeric catalase blocking its tetramerization and releases it upon binding the N-terminal domain of PEX14.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Freitas MO, Francisco T, Rodrigues TA, Alencastre IS, Pinto MP, Grou CP, Carvalho AF, Fransen M, Sa-Miranda C, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "21976670", "url": "https://glygen.org/publication/PubMed/21976670" } ] }, { "title": "AWP1/ZFAND6 functions in Pex5 export by interacting with cys-monoubiquitinated Pex5 and Pex6 AAA ATPase.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2012", "authors": "Miyata N, Okumoto K, Mukai S, Noguchi M, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "21980954", "url": "https://glygen.org/publication/PubMed/21980954" } ] }, { "title": "Two proteases, trypsin domain-containing 1 (Tysnd1) and peroxisomal lon protease (PsLon), cooperatively regulate fatty acid beta-oxidation in peroxisomal matrix.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Okumoto K, Kametani Y, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "22002062", "url": "https://glygen.org/publication/PubMed/22002062" } ] }, { "title": "The tumor suppressor CDC73 interacts with the ring finger proteins RNF20 and RNF40 and is required for the maintenance of histone 2B monoubiquitination.", "journal": "Human molecular genetics", "date": "2012", "authors": "Hahn MA, Dickson KA, Jackson S, Clarkson A, Gill AJ, Marsh DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "22021426", "url": "https://glygen.org/publication/PubMed/22021426" } ] }, { "title": "Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Kunze M, Neuberger G, Maurer-Stroh S, Ma J, Eck T, Braverman N, Schmid JA, Eisenhaber F, Berger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "22057399", "url": "https://glygen.org/publication/PubMed/22057399" } ] }, { "title": "Identification of ubiquitin-specific protease 9X (USP9X) as a deubiquitinase acting on ubiquitin-peroxin 5 (PEX5) thioester conjugate.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Grou CP, Francisco T, Rodrigues TA, Freitas MO, Pinto MP, Carvalho AF, Domingues P, Wood SA, Rodriguez-Borges JE, Sa-Miranda C, Fransen M, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "22371489", "url": "https://glygen.org/publication/PubMed/22371489" } ] }, { "title": "The role of conserved PEX3 regions in PEX19-binding and peroxisome biogenesis.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2012", "authors": "Schmidt F, Dietrich D, Eylenstein R, Groemping Y, Stehle T, Dodt G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "22624858", "url": "https://glygen.org/publication/PubMed/22624858" } ] }, { "title": "Pex5p imports folded tetrameric catalase by interaction with Pex13p.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2012", "authors": "Otera H, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "22747494", "url": "https://glygen.org/publication/PubMed/22747494" } ] }, { "title": "Tail-anchored PEX26 targets peroxisomes via a PEX19-dependent and TRC40-independent class I pathway.", "journal": "The Journal of cell biology", "date": "2013", "authors": "Yagita Y, Hiromasa T, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "23460677", "url": "https://glygen.org/publication/PubMed/23460677" } ] }, { "title": "Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission.", "journal": "EMBO reports", "date": "2013", "authors": "Huber N, Guimaraes S, Schrader M, Suter U, Niemann A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "23628762", "url": "https://glygen.org/publication/PubMed/23628762" } ] }, { "title": "A cargo-centered perspective on the PEX5 receptor-mediated peroxisomal protein import pathway.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Francisco T, Rodrigues TA, Freitas MO, Grou CP, Carvalho AF, Sa-Miranda C, Pinto MP, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "23963456", "url": "https://glygen.org/publication/PubMed/23963456" } ] }, { "title": "A novel Pex14 protein-interacting site of human Pex5 is critical for matrix protein import into peroxisomes.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Neuhaus A, Kooshapur H, Wolf J, Meyer NH, Madl T, Saidowsky J, Hambruch E, Lazam A, Jung M, Sattler M, Schliebs W, Erdmann R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "24235149", "url": "https://glygen.org/publication/PubMed/24235149" } ] }, { "title": "Distinct modes of ubiquitination of peroxisome-targeting signal type 1 (PTS1) receptor Pex5p regulate PTS1 protein import.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Okumoto K, Noda H, Fujiki Y", "evidence": [ { "database": "UniProtKB", "id": "O00623", "url": "https://www.uniprot.org/uniprot/O00623" }, { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "24662292", "url": "https://glygen.org/publication/PubMed/24662292" } ] }, { "title": "A high-coverage shRNA screen identifies TMEM129 as an E3 ligase involved in ER-associated protein degradation.", "journal": "Nature communications", "date": "2014", "authors": "van de Weijer ML, Bassik MC, Luteijn RD, Voorburg CM, Lohuis MA, Kremmer E, Hoeben RC, LeProust EM, Chen S, Hoelen H, Ressing ME, Patena W, Weissman JS, McManus MT, Wiertz EJ, Lebbink RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "24807418", "url": "https://glygen.org/publication/PubMed/24807418" } ] }, { "title": "A PEX7-centered perspective on the peroxisomal targeting signal type 2-mediated protein import pathway.", "journal": "Molecular and cellular biology", "date": "2014", "authors": "Rodrigues TA, Alencastre IS, Francisco T, Brites P, Fransen M, Grou CP, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "24865970", "url": "https://glygen.org/publication/PubMed/24865970" } ] }, { "title": "RNF144A, an E3 ubiquitin ligase for DNA-PKcs, promotes apoptosis during DNA damage.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Ho SR, Mahanic CS, Lee YJ, Lin WC", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "24979766", "url": "https://glygen.org/publication/PubMed/24979766" } ] }, { "title": "AAA peroxins and their recruiter Pex26p modulate the interactions of peroxins involved in peroxisomal protein import.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Tamura S, Matsumoto N, Takeba R, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "25016021", "url": "https://glygen.org/publication/PubMed/25016021" } ] }, { "title": "TMEM129 is a Derlin-1 associated ERAD E3 ligase essential for virus-induced degradation of MHC-I.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "van den Boomen DJ, Timms RT, Grice GL, Stagg HR, Skodt K, Dougan G, Nathan JA, Lehner PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "25030448", "url": "https://glygen.org/publication/PubMed/25030448" } ] }, { "title": "Association between the intrinsically disordered protein PEX19 and PEX3.", "journal": "PloS one", "date": "2014", "authors": "Hattula K, Hirschberg D, Kalkkinen N, Butcher SJ, Ora A", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "25062251", "url": "https://glygen.org/publication/PubMed/25062251" } ] }, { "title": "Arsenite binds to the RING finger domains of RNF20-RNF40 histone E3 ubiquitin ligase and inhibits DNA double-strand break repair.", "journal": "Journal of the American Chemical Society", "date": "2014", "authors": "Zhang F, Paramasivam M, Cai Q, Dai X, Wang P, Lin K, Song J, Seidman MM, Wang Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "25170678", "url": "https://glygen.org/publication/PubMed/25170678" } ] }, { "title": "Hydrophobic handoff for direct delivery of peroxisome tail-anchored proteins.", "journal": "Nature communications", "date": "2014", "authors": "Chen Y, Pieuchot L, Loh RA, Yang J, Kari TM, Wong JY, Jedd G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "25517356", "url": "https://glygen.org/publication/PubMed/25517356" } ] }, { "title": "Mechanistic insights into PTS2-mediated peroxisomal protein import: the co-receptor PEX5L drastically increases the interaction strength between the cargo protein and the receptor PEX7.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Kunze M, Malkani N, Maurer-Stroh S, Wiesinger C, Schmid JA, Berger J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "25538232", "url": "https://glygen.org/publication/PubMed/25538232" } ] }, { "title": "The peroxisomal protein import machinery displays a preference for monomeric substrates.", "journal": "Open biology", "date": "2015", "authors": "Freitas MO, Francisco T, Rodrigues TA, Lismont C, Domingues P, Pinto MP, Grou CP, Fransen M, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "25854684", "url": "https://glygen.org/publication/PubMed/25854684" } ] }, { "title": "The ubiquitination of rag A GTPase by RNF152 negatively regulates mTORC1 activation.", "journal": "Molecular cell", "date": "2015", "authors": "Deng L, Jiang C, Chen L, Jin J, Wei J, Zhao L, Chen M, Pan W, Xu Y, Chu H, Wang X, Ge X, Li D, Liao L, Liu M, Li L, Wang P", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "25936802", "url": "https://glygen.org/publication/PubMed/25936802" } ] }, { "title": "Export-deficient monoubiquitinated PEX5 triggers peroxisome removal in SV40 large T antigen-transformed mouse embryonic fibroblasts.", "journal": "Autophagy", "date": "2015", "authors": "Nordgren M, Francisco T, Lismont C, Hennebel L, Brees C, Wang B, Van Veldhoven PP, Azevedo JE, Fransen M", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "26086376", "url": "https://glygen.org/publication/PubMed/26086376" } ] }, { "title": "A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder.", "journal": "Mol. Biol. Rep.", "date": "2015", "authors": "Konko\u013eov\u00e1 Jana, Petrovi\u010d Robert, Chandoga J\u00e1n, Halasov\u00e1 Edita, Jungov\u00e1 Petra, B\u00f6hmer Daniel", "evidence": [ { "database": "UniProtKB", "id": "O00623", "url": "https://www.uniprot.org/uniprot/O00623" } ], "reference": [ { "type": "PubMed", "id": "26094004", "url": "https://glygen.org/publication/PubMed/26094004" } ] }, { "title": "Revisiting the intraperoxisomal pathway of mammalian PEX7.", "journal": "Scientific reports", "date": "2015", "authors": "Rodrigues TA, Grou CP, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "26138649", "url": "https://glygen.org/publication/PubMed/26138649" } ] }, { "title": "Identifying the ERAD ubiquitin E3 ligases for viral and cellular targeting of MHC class I.", "journal": "Molecular immunology", "date": "2015", "authors": "van den Boomen DJ, Lehner PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "26210183", "url": "https://glygen.org/publication/PubMed/26210183" } ] }, { "title": "Regulation of RNF144A E3 Ubiquitin Ligase Activity by Self-association through Its Transmembrane Domain.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Ho SR, Lee YJ, Lin WC", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "26216882", "url": "https://glygen.org/publication/PubMed/26216882" } ] }, { "title": "A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.", "journal": "Human molecular genetics", "date": "2015", "authors": "Baroy T, Koster J, Stromme P, Ebberink MS, Misceo D, Ferdinandusse S, Holmgren A, Hughes T, Merckoll E, Westvik J, Woldseth B, Walter J, Wood N, Tvedt B, Stadskleiv K, Wanders RJ, Waterham HR, Frengen E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "26220973", "url": "https://glygen.org/publication/PubMed/26220973" } ] }, { "title": "ATM functions at the peroxisome to induce pexophagy in response to ROS.", "journal": "Nature cell biology", "date": "2015", "authors": "Zhang J, Tripathi DN, Jing J, Alexander A, Kim J, Powell RT, Dere R, Tait-Mulder J, Lee JH, Paull TT, Pandita RK, Charaka VK, Pandita TK, Kastan MB, Walker CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "26344566", "url": "https://glygen.org/publication/PubMed/26344566" } ] }, { "title": "Human HLTF mediates postreplication repair by its HIRAN domain-dependent replication fork remodelling.", "journal": "Nucleic acids research", "date": "2015", "authors": "Achar YJ, Balogh D, Neculai D, Juhasz S, Morocz M, Gali H, Dhe-Paganon S, Venclovas C, Haracska L", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "26350214", "url": "https://glygen.org/publication/PubMed/26350214" } ] }, { "title": "Negative Regulation of CARD11 Signaling and Lymphoma Cell Survival by the E3 Ubiquitin Ligase RNF181.", "journal": "Molecular and cellular biology", "date": "2015", "authors": "Pedersen SM, Chan W, Jattani RP, Mackie dS, Pomerantz JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "26711259", "url": "https://glygen.org/publication/PubMed/26711259" } ] }, { "title": "Assembly of Peroxisomal Membrane Proteins via the Direct Pex19p-Pex3p Pathway.", "journal": "Traffic (Copenhagen, Denmark)", "date": "2016", "authors": "Liu Y, Yagita Y, Fujiki Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "26777132", "url": "https://glygen.org/publication/PubMed/26777132" } ] }, { "title": "Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 Deficiency.", "journal": "Neuropediatrics", "date": "2016", "authors": "Sorlin A, Briand G, Cheillan D, Wiedemann A, Montaut-Verient B, Schmitt E, Feillet F", "evidence": [ { "database": "UniProtKB", "id": "O00623", "url": "https://www.uniprot.org/uniprot/O00623" } ], "reference": [ { "type": "PubMed", "id": "26947510", "url": "https://glygen.org/publication/PubMed/26947510" } ] }, { "title": "Structure and Function of the RING Domains of RNF20 and RNF40, Dimeric E3 Ligases that Monoubiquitylate Histone H2B.", "journal": "Journal of molecular biology", "date": "2016", "authors": "Foglizzo M, Middleton AJ, Day CL", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "27569044", "url": "https://glygen.org/publication/PubMed/27569044" } ] }, { "title": "PEX2 is the E3 ubiquitin ligase required for pexophagy during starvation.", "journal": "The Journal of cell biology", "date": "2016", "authors": "Sargent G, van Zutphen T, Shatseva T, Zhang L, Di Giovanni V, Bandsma R, Kim PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "27597759", "url": "https://glygen.org/publication/PubMed/27597759" } ] }, { "title": "The RING finger domain E3 ubiquitin ligases BRCA1 and the RNF20/RNF40 complex in global loss of the chromatin mark histone H2B monoubiquitination (H2Bub1) in cell line models and primary high-grade serous ovarian cancer.", "journal": "Human molecular genetics", "date": "2016", "authors": "Dickson KA, Cole AJ, Gill AJ, Clarkson A, Gard GB, Chou A, Kennedy CJ, Henderson BR, Fereday S, Traficante N, Alsop K, Bowtell DD, deFazio A, Clifton-Bligh R, Marsh DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8866654", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8866654" } ], "reference": [ { "type": "PubMed", "id": "27798111", "url": "https://glygen.org/publication/PubMed/27798111" } ] }, { "title": "Allosteric modulation of peroxisomal membrane protein recognition by farnesylation of the peroxisomal import receptor PEX19.", "journal": "Nature communications", "date": "2017", "authors": "Emmanouilidis L, Schutz U, Tripsianes K, Madl T, Radke J, Rucktaschel R, Wilmanns M, Schliebs W, Erdmann R, Sattler M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "28281558", "url": "https://glygen.org/publication/PubMed/28281558" } ] }, { "title": "Predicting the targeting of tail-anchored proteins to subcellular compartments in mammalian cells.", "journal": "Journal of cell science", "date": "2017", "authors": "Costello JL, Castro IG, Camoes F, Schrader TA, McNeall D, Yang J, Giannopoulou EA, Gomes S, Pogenberg V, Bonekamp NA, Ribeiro D, Wilmanns M, Jedd G, Islinger M, Schrader M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9603798", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9603798" } ], "reference": [ { "type": "PubMed", "id": "28325759", "url": "https://glygen.org/publication/PubMed/28325759" } ] }, { "title": "The peroxisomal AAA ATPase complex prevents pexophagy and development of peroxisome biogenesis disorders.", "journal": "Autophagy", "date": "2017", "authors": "Law KB, Bronte-Tinkew D, Di Pietro E, Snowden A, Jones RO, Moser A, Brumell JH, Braverman N, Kim PK", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "28521612", "url": "https://glygen.org/publication/PubMed/28521612" } ] }, { "title": "Structure and Function of p97 and Pex1/6 Type II AAA+ Complexes.", "journal": "Frontiers in molecular biosciences", "date": "2017", "authors": "Saffert P, Enenkel C, Wendler P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "28611990", "url": "https://glygen.org/publication/PubMed/28611990" } ] }, { "title": "The peroxisomal matrix protein translocon is a large cavity-forming protein assembly into which PEX5 protein enters to release its cargo.", "journal": "The Journal of biological chemistry", "date": "2017", "authors": "Dias AF, Rodrigues TA, Pedrosa AG, Barros-Barbosa A, Francisco T, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "28765278", "url": "https://glygen.org/publication/PubMed/28765278" } ] }, { "title": "Protein transport into peroxisomes: Knowns and unknowns.", "journal": "BioEssays : news and reviews in molecular, cellular and developmental biology", "date": "2017", "authors": "Francisco T, Rodrigues TA, Dias AF, Barros-Barbosa A, Bicho D, Azevedo JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-9033241", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9033241" } ], "reference": [ { "type": "PubMed", "id": "28787099", "url": "https://glygen.org/publication/PubMed/28787099" } ] }, { "title": "A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.", "journal": "Neurological sciences : official journal of the Italian Neurological 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