{ "uniprot_canonical_ac": "P0DJ07-1", "uniprot_ac": "P0DJ07", "uniprot_id": "PT100_HUMAN", "mass": { "chemical_mass": 9114.0, "monoisotopic_mass": 9114.0 }, "refseq": { "ac": "NP_001164626", "name": "protein PET100 homolog, mitochondrial", "summary": "Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164626" }, "gene_names": [ { "name": "PET100", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0DJ07", "id": "P0DJ07" }, { "name": "C19orf79; MC4DN12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164626", "id": "NP_001164626" }, { "name": "C19orf79", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DJ07", "id": "P0DJ07" }, { "name": "PET100", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164626", "id": "NP_001164626" }, { "name": "hCG_2036585", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DJ07", "id": "P0DJ07" } ], "protein_names": [ { "name": "Protein PET100 homolog, mitochondrial", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0DJ07" }, { "name": "PET100 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164626", "id": "NP_001164626" }, { "name": "protein PET100 homolog, mitochondrial", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164626", "id": "NP_001164626" } ], "function": [ { "annotation": "COX assembly candidate, ortholog of fungal PET100 GeneRIF: Protein identified in mammalian mitochondria Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001164626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164626" }, { "database": "PubMed", "id": "22356826", "url": "https://glygen.org/publication/PubMed/22356826" } ] }, { "annotation": "Mitochondrial complex IV, or cytochrome c oxidase, is a large transmembrane protein complex that is part of the respiratory electron transport chain of mitochondria. The small protein encoded by this gene plays a role in the biogenesis of mitochondrial complex IV. This protein localizes to the inner mitochondrial membrane and is exposed to the intermembrane space. Mutations in this gene are associated with mitochondrial complex IV deficiency. This gene has a pseudogene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001164626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164626" } ] }, { "annotation": "Plays an essential role in mitochondrial complex IV maturation and assembly.", "evidence": [ { "database": "UniProtKB", "id": "P0DJ07", "url": "https://www.uniprot.org/uniprot/P0DJ07#function" }, { "database": "PubMed", "id": "24462369", "url": "https://glygen.org/publication/PubMed/24462369" }, { "database": "PubMed", "id": "25293719", "url": "https://glygen.org/publication/PubMed/25293719" } ] }, { "annotation": "The short isoform of the myofibrillogenesis regulator 1 (MR-1S) as a new COX assembly factor, which works with the highly conserved PET100 and PET117 chaperones to assist COX biogenesis in higher eukaryotes.", "evidence": [ { "database": "RefSeq", "id": "NP_001164626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164626" }, { "database": "PubMed", "id": "28199844", "url": "https://glygen.org/publication/PubMed/28199844" } ] }, { "annotation": "We identify PET100 as a complex IV biogenesis factor in humans and characterize its location and role in mitochondria.We found PET100 (MIM 614770) mutations in ten Lebanese individuals with Leigh syndrome and isolated complex IV deficiency.", "evidence": [ { "database": "RefSeq", "id": "NP_001164626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164626" }, { "database": "PubMed", "id": "24462369", "url": "https://glygen.org/publication/PubMed/24462369" } ] } ], "disease": [ { "disease_id": "DOID:0070498", "recommended_name": { "id": "DOID:0070498", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070498", "name": "mitochondrial complex IV deficiency nuclear type 12", "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2." }, "synonyms": [ { "id": "DOID:0070498", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070498", "name": "MC4DN12", "description": "" }, { "id": "MONDO:0033646", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033646", "name": "mitochondrial complex 4 deficiency, nuclear type 12", "description": "" }, { "id": "MONDO:0033646", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033646", "name": "MC4DN12", "description": "" }, { "id": "MONDO:0033646", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033646", "name": "mitochondrial complex IV deficiency, nuclear type 12", "description": "" }, { "id": "MIM:619055", "resource": "MIM", "url": "https://www.omim.org/entry/619055", "name": "Mitochondrial complex IV deficiency, nuclear type 12", "description": "Mitochondrial complex IV deficiency, nuclear type 12" } ], "evidence": [ { "id": "619055", "database": "MIM", "url": "https://www.omim.org/entry/619055" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "96.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000229833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229833" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "94.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229833" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229833" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229833" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.23", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229833" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.62", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000229833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229833" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "93.95", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229833" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "94.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000229833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229833" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000229833", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000229833" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P0DJ07", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0DJ07" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": 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"tr|A0A8V8TLP9-1|A0A8V8TLP9_HUMAN Computationally mapped isoform of PET100 cytochrome c oxidase chaperone OS=Homo sapiens OX=9606 GN=PET100 PE=1 SV=1 CANONICAL=P0DJ07-1" }, "locus": { "chromosome": "19", "start_pos": 7631553, "end_pos": 7629834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698396.1", "url": "https://www.ensembl.org/id/ENST00000698396.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000513691.1", "url": "https://www.ensembl.org/id/ENSP00000513691.1" } ] } }, { "isoform_ac": "A0A8V8TM67-1", "url": "", "sequence": { "sequence": "GVKLEIFRMIIYLTFPVAMFWVSNQAEWFEDDVIQRKPTLP", "length": 41, "header": "tr|A0A8V8TM67-1|A0A8V8TM67_HUMAN Computationally mapped isoform of PET100 cytochrome c oxidase chaperone OS=Homo sapiens OX=9606 GN=PET100 PE=3 SV=1 CANONICAL=P0DJ07-1" }, "locus": { "chromosome": "19", "start_pos": 7630765, "end_pos": 7629837, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000698398.1", "url": 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Computationally mapped isoform of Protein PET100 homolog, mitochondrial OS=Homo sapiens OX=9606 GN=PET100 PE=1 SV=2 CANONICAL=P0DJ07-1" }, "locus": { "chromosome": "19", "start_pos": 7631236, "end_pos": 7629839, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000598540.6", "url": "https://www.ensembl.org/id/ENST00000598540.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000470314.2", "url": "https://www.ensembl.org/id/ENSP00000470314.2" } ] } }, { "isoform_ac": "M0R022-1", "url": "", "sequence": { "sequence": "MGVKLEIFRMIIYLTFPVAMFWVSNQAEWFEDDVIQRKRELWPPEKVSDLFFLPEGWRRLDSCIRDGF", "length": 68, "header": "tr|M0R022-1|M0R022_HUMAN Computationally mapped isoform of PET100 cytochrome c oxidase chaperone OS=Homo sapiens OX=9606 GN=PET100 PE=3 SV=1 CANONICAL=P0DJ07-1" }, "locus": { "chromosome": "19", "start_pos": 7630912, "end_pos": 7629834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000601406.5", "url": "https://www.ensembl.org/id/ENST00000601406.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000470935.1", "url": "https://www.ensembl.org/id/ENSP00000470935.1" } ] } }, { "isoform_ac": "P0DJ07-1", "url": "", "sequence": { "sequence": "MGVKLEIFRMIIYLTFPVAMFWVSNQAEWFEDDVIQRKRELWPPEKLQEIEEFKERLRKRREEKLLRDAQQNS", "length": 73, "header": "sp|P0DJ07-1|PT100_HUMAN Isoform 1 of Protein PET100 homolog, mitochondrial OS=Homo sapiens OX=9606 GN=PET100 PE=1 SV=1 CANONICAL=P0DJ07-1" }, "locus": { "chromosome": "19", "start_pos": 7631553, "end_pos": 7629834, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000594797.6", "url": "https://www.ensembl.org/id/ENST00000594797.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000470539.1", "url": "https://www.ensembl.org/id/ENSP00000470539.1" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase.", "journal": "Genome Biol.", "date": "2012", "authors": "Szklarczyk R, Wanschers BF, Cuypers TD, Esseling JJ, Riemersma M, van den Brand MA, Gloerich J, Lasonder E, van den Heuvel LP, Nijtmans LG, Huynen MA", "evidence": [ { "database": "UniProtKB", "id": "P0DJ07", "url": "https://www.uniprot.org/uniprot/P0DJ07" }, { "database": "RefSeq", "id": "NP_001164626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164626" } ], "reference": [ { "type": "PubMed", "id": "22356826", "url": "https://glygen.org/publication/PubMed/22356826" } ] }, { "title": "A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.", "journal": "American journal of human genetics", "date": "2014", "authors": "Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR", "evidence": [ { "database": "UniProtKB", "id": "P0DJ07", "url": "https://www.uniprot.org/uniprot/P0DJ07" }, { "database": "RefSeq", "id": "NP_001164626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164626" } ], "reference": [ { "type": "PubMed", "id": "24462369", "url": "https://glygen.org/publication/PubMed/24462369" } ] }, { "title": "A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.", "journal": "European journal of human genetics : EJHG", "date": "2015", "authors": "Olahova M, Haack TB, Alston CL, Houghton JA, He L, Morris AA, Brown GK, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Prokisch H, Taylor RW", "evidence": [ { "database": "UniProtKB", "id": "P0DJ07", "url": "https://www.uniprot.org/uniprot/P0DJ07" } ], "reference": [ { "type": "PubMed", "id": "25293719", "url": "https://glygen.org/publication/PubMed/25293719" } ] }, { "title": "MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase.", "journal": "Cell reports", "date": "2017", "authors": "Vidoni S, Harbour ME, Guerrero-Castillo S, Signes A, Ding S, Fearnley IM, Taylor RW, Tiranti V, Arnold S, Fernandez-Vizarra E, Zeviani M", "evidence": [ { "database": "RefSeq", "id": "NP_001164626", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001164626" } ], "reference": [ { "type": "PubMed", "id": "28199844", "url": "https://glygen.org/publication/PubMed/28199844" } ] } ], "pathway": [ { "id": "hsa:100131801", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:100131801", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZHD3-1", "protein_name": "PET100 cytochrome c oxidase chaperone", "gene_name": "Pet100", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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