{ "uniprot_canonical_ac": "P00156-1", "uniprot_ac": "P00156", "uniprot_id": "CYB_HUMAN", "mass": { "chemical_mass": 42718.0, "monoisotopic_mass": 42718.0 }, "refseq": { "ac": "YP_003024038", "name": "cytochrome b", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024038" }, "gene_names": [ { "name": "MT-CYB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00156", "id": "P00156" }, { "name": "COB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00156", "id": "P00156" }, { "name": "CYTB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024038", "id": "YP_003024038" }, { "name": "CYTB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00156", "id": "P00156" }, { "name": "MTCYB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024038", "id": "YP_003024038" }, { "name": "MTCYB", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00156", "id": "P00156" } ], "protein_names": [ { "name": "Cytochrome b", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00156" }, { "name": "Complex III subunit 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00156" }, { "name": "Complex III subunit III", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00156" }, { "name": "Cytochrome b-c1 complex subunit 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00156" }, { "name": "Ubiquinol-cytochrome-c reductase complex cytochrome b subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00156" }, { "name": "cytochrome b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024038", "id": "YP_003024038" } ], "function": [ { "annotation": "Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156#function" }, { "database": "UniProtKB", "id": "P00157", "url": "https://www.uniprot.org/uniprot/P00157#function" } ] } ], "disease": [ { "disease_id": "DOID:0080198", "recommended_name": { "id": "DOID:0080198", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080198", "name": "infantile histiocytoid cardiomyopathy", "description": "An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b." }, "synonyms": [ { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "histiocytoid cardiomyopathy", "description": "Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterized by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium." }, { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "Arachnocytosis of the myocardium", "description": "" }, { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "Purkinje cell hamartoma", "description": "" }, { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "congenital cardiomyopathy", "description": "" }, { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "foamy myocardial transformation of infancy", "description": "" }, { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "histiocytoid cardiomyopathy", "description": "" }, { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "infantile cardiomyopathy with histiocytoid change", "description": "" }, { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "infantile xanthomatous cardiomyopathy", "description": "" }, { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "isolated Cardiac lipidosis", "description": "" }, { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "myocardial hamartoma", "description": "" }, { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "oncocytic cardiomyopathy", "description": "" }, { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "cardiomyopathy, focal Lipid", "description": "" }, { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "cardiomyopathy, infantile histiocytoid", "description": "" }, { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "cardiomyopathy, infantile xanthomatous", "description": "" }, { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "cardiomyopathy, oncocytic", "description": "" }, { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "focal lipid cardiomyopathy", "description": "" }, { "id": "MONDO:0010771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010771", "name": "infantile histiocytoid cardiomyopathy", "description": "" }, { "id": "MIM:500000", "resource": "MIM", "url": "https://www.omim.org/entry/500000", "name": "Cardiomyopathy, infantile histiocytoid", "description": "Cardiomyopathy, infantile histiocytoid" } ], "evidence": [ { "id": "500000", "database": "MIM", "url": "https://www.omim.org/entry/500000" } ] }, { "disease_id": "DOID:705", "recommended_name": { "id": "DOID:705", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:705", "name": "Leber hereditary optic neuropathy", "description": "" }, "synonyms": [ { "id": "DOID:705", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:705", "name": "Leber's hereditary optic neuropathy", "description": "" }, { "id": "DOID:705", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:705", "name": "Leber's optic atrophy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber hereditary optic neuropathy", "description": "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "LHON", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber Hereditary optic atrophy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber hereditary optic neuropathy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber optic atrophy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber's hereditary optic neuropathy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber's optic atrophy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Lebers disease", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "optic atrophy, Leber type", "description": "" }, { "id": "MIM:535000", "resource": "MIM", "url": "https://www.omim.org/entry/535000", "name": "Leber hereditary optic neuropathy", "description": "Leber hereditary optic neuropathy" } ], "evidence": [ { "id": "535000", "database": "MIM", "url": "https://www.omim.org/entry/535000" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "99.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198727", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198727" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198727", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198727" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198727", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198727" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198727", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198727" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "99.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198727", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198727" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "99.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198727", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198727" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "99.83", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198727", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198727" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "99.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198727", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198727" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "99.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198727", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198727" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P00156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00156" } ], "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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P00156", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00156" } ], "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": "" }, { 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"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", 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"sequence": { "sequence": "MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPDASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIGIILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPTLTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGLLLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGGVLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKMLKWA", "length": 380, "header": "sp|P00156-1|CYB_HUMAN Isoform 1 of Cytochrome b OS=Homo sapiens OX=9606 GN=MT-CYB PE=1 SV=2 CANONICAL=P00156-1" }, "locus": { "chromosome": "Mitochondrion", "start_pos": 15886, "end_pos": 14747, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361789.2", "url": "https://www.ensembl.org/id/ENST00000361789.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000354554.2", "url": "https://www.ensembl.org/id/ENSP00000354554.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Defects in mitochondrial beta-oxidation of fatty acids.", "journal": "Current opinion in lipidology", "date": "1999", "authors": "Wood PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "10327278", "url": "https://glygen.org/publication/PubMed/10327278" } ] }, { "title": "A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency.", "journal": "Human genetics", "date": "1999", "authors": "Valnot I, Kassis J, Chretien D, de Lonlay P, Parfait B, Munnich A, Kachaner J, Rustin P, Rotig A", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "10453733", "url": "https://glygen.org/publication/PubMed/10453733" } ] }, { "title": "Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.", "journal": "The New England journal of medicine", "date": "1999", "authors": "Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, Tanji K, Pallotti F, Iwata S, Bonilla E, Lach B, Morgan-Hughes J, DiMauro S", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "10502593", "url": "https://glygen.org/publication/PubMed/10502593" } ] }, { "title": "Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA.", "journal": "Nat. Genet.", "date": "1999", "authors": "Andrews R M, Kubacka I, Chinnery P F, Lightowlers R N, Turnbull D M, Howell N", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "10508508", "url": "https://glygen.org/publication/PubMed/10508508" } ] }, { "title": "A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy.", "journal": "Pediatric research", "date": "2000", "authors": "Andreu AL, Checcarelli N, Iwata S, Shanske S, DiMauro S", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "10960495", "url": "https://glygen.org/publication/PubMed/10960495" } ] }, { "title": "Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.", "journal": "Am. J. Hum. Genet.", "date": "2000", "authors": "Keightley J A, Anitori R, Burton M D, Quan F, Buist N R, Kennaway N G", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "11047755", "url": "https://glygen.org/publication/PubMed/11047755" } ] }, { "title": "Mitochondrial genome variation and the origin of modern humans.", "journal": "Nature", "date": "2000", "authors": "Ingman M, Kaessmann H, Paabo S, Gyllensten U", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "11130070", "url": "https://glygen.org/publication/PubMed/11130070" } ] }, { "title": "Functional characterization of novel mutations in the human cytochrome b gene.", "journal": "European journal of human genetics : EJHG", "date": "2001", "authors": "Legros F, Chatzoglou E, Frachon P, Ogier De Baulny H, Laforet P, Jardel C, Godinot C, Lombes A", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "11464242", "url": "https://glygen.org/publication/PubMed/11464242" } ] }, { "title": "Major genomic mitochondrial lineages delineate early human expansions.", "journal": "BMC Genet.", "date": "2001", "authors": "Maca-Meyer N, Gonz\u00e1lez A M, Larruga J M, Flores C, Cabrera V M", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "11553319", "url": "https://glygen.org/publication/PubMed/11553319" } ] }, { "title": "Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene.", "journal": "Annals of neurology", "date": "2001", "authors": "Wibrand F, Ravn K, Schwartz M, Rosenberg T, Horn N, Vissing J", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "11601507", "url": "https://glygen.org/publication/PubMed/11601507" } ] }, { "title": "Human NADH:ubiquinone oxidoreductase.", "journal": "Journal of bioenergetics and biomembranes", "date": "2001", "authors": "Smeitink J, Sengers R, Trijbels F, van den Heuvel L", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "11695836", "url": "https://glygen.org/publication/PubMed/11695836" } ] }, { "title": "Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.", "journal": "Annals of neurology", "date": "2002", "authors": "Schuelke M, Krude H, Finckh B, Mayatepek E, Janssen A, Schmelz M, Trefz F, Trijbels F, Smeitink J", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "11891837", "url": "https://glygen.org/publication/PubMed/11891837" } ] }, { "title": "Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America.", "journal": "Am. J. Hum. Genet.", "date": "2002", "authors": "Silva Wilson A, Bonatto Sandro L, Holanda Adriano J, Ribeiro-Dos-Santos Andrea K, Paix\u00e3o Beatriz M, Goldman Gustavo H, Abe-Sandes Kiyoko, Rodriguez-Delfin Luis, Barbosa Marcela, Pa\u00e7\u00f3-Larson Maria Luiza, Petzl-Erler Maria Luiza, Valente Valeria, Santos Sidney E B, Zago Marco A", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "12022039", "url": "https://glygen.org/publication/PubMed/12022039" } ] }, { "title": "The energy-transducing NADH: quinone oxidoreductase, complex I.", "journal": "Molecular aspects of medicine", "date": "2002", "authors": "Yano T", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "12231006", "url": "https://glygen.org/publication/PubMed/12231006" } ] }, { "title": "The nuclear encoded subunits of complex I from bovine heart mitochondria.", "journal": "Biochimica et biophysica acta", "date": "2003", "authors": "Hirst J, Carroll J, Fearnley IM, Shannon RJ, Walker JE", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "12837546", "url": "https://glygen.org/publication/PubMed/12837546" } ] }, { "title": "Association of the mitochondrial DNA 15497G/A polymorphism with obesity in a middle-aged and elderly Japanese population.", "journal": "Human genetics", "date": "2003", "authors": "Okura T, Koda M, Ando F, Niino N, Tanaka M, Shimokata H", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "12905068", "url": "https://glygen.org/publication/PubMed/12905068" } ] }, { "title": "Saturation kinetics of coenzyme Q in NADH and succinate oxidation in beef heart mitochondria.", "journal": "FEBS letters", "date": "1992", "authors": "Estornell E, Fato R, Castelluccio C, Cavazzoni M, Parenti Castelli G, Lenaz G", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "1327877", "url": "https://glygen.org/publication/PubMed/1327877" } ] }, { "title": "The gross structure of the respiratory complex I: a Lego System.", "journal": "Biochimica et biophysica acta", "date": "2004", "authors": "Friedrich T, Bottcher B", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "14741580", "url": "https://glygen.org/publication/PubMed/14741580" } ] }, { "title": "Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin.", "journal": "The Biochemical journal", "date": "2004", "authors": "Bourges I, Ramus C, Mousson de Camaret B, Beugnot R, Remacle C, Cardol P, Hofhaus G, Issartel JP", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "15250827", "url": "https://glygen.org/publication/PubMed/15250827" } ] }, { "title": "The Saccharomyces cerevisiae COQ10 gene encodes a START domain protein required for function of coenzyme Q in respiration.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Barros MH, Johnson A, Gin P, Marbois BN, Clarke CF, Tzagoloff A", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "16230336", "url": "https://glygen.org/publication/PubMed/16230336" } ] }, { "title": "Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.", "journal": "Genetics", "date": "1992", "authors": "Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "1732158", "url": "https://glygen.org/publication/PubMed/1732158" } ] }, { "title": "Normal variants of human mitochondrial DNA and translation products: the building of a reference data base.", "journal": "Hum. Genet.", "date": "1991", "authors": "Marzuki S, Noer A S, Lertrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "1757091", "url": "https://glygen.org/publication/PubMed/1757091" } ] }, { "title": "Possible molecular mechanisms of the protonmotive function of cytochrome systems.", "journal": "Journal of theoretical biology", "date": "1976", "authors": "Mitchell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "186667", "url": "https://glygen.org/publication/PubMed/186667" } ] }, { "title": "A conserved START domain coenzyme Q-binding polypeptide is required for efficient Q biosynthesis, respiratory electron transport, and antioxidant function in Saccharomyces cerevisiae.", "journal": "Biochimica et biophysica acta", "date": "2013", "authors": "Allan CM, Hill S, Morvaridi S, Saiki R, Johnson JS, Liau WS, Hirano K, Kawashima T, Ji Z, Loo JA, Shepherd JN, Clarke CF", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "23270816", "url": "https://glygen.org/publication/PubMed/23270816" } ] }, { "title": "Molecular chaperone TRAP1 regulates a metabolic switch between mitochondrial respiration and aerobic glycolysis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Yoshida S, Tsutsumi S, Muhlebach G, Sourbier C, Lee MJ, Lee S, Vartholomaiou E, Tatokoro M, Beebe K, Miyajima N, Mohney RP, Chen Y, Hasumi H, Xu W, Fukushima H, Nakamura K, Koga F, Kihara K, Trepel J, Picard D, Neckers L", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "23564345", "url": "https://glygen.org/publication/PubMed/23564345" } ] }, { "title": "The mitochondrial chaperone TRAP1 promotes neoplastic growth by inhibiting succinate dehydrogenase.", "journal": "Cell metabolism", "date": "2013", "authors": "Sciacovelli M, Guzzo G, Morello V, Frezza C, Zheng L, Nannini N, Calabrese F, Laudiero G, Esposito F, Landriscina M, Defilippi P, Bernardi P, Rasola A", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "23747254", "url": "https://glygen.org/publication/PubMed/23747254" } ] }, { "title": "Protonmotive redox mechanism of the cytochrome b-c1 complex in the respiratory chain: protonmotive ubiquinone cycle.", "journal": "FEBS letters", "date": "1975", "authors": "Mitchell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "239860", "url": "https://glygen.org/publication/PubMed/239860" } ] }, { "title": "Inhibition of succinate dehydrogenase by the mitochondrial chaperone TRAP1 has anti-oxidant and anti-apoptotic effects on tumor cells.", "journal": "Oncotarget", "date": "2014", "authors": "Guzzo G, Sciacovelli M, Bernardi P, Rasola A", "evidence": [ { "database": "Reactome", "id": "R-HSA-611105", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-611105" } ], "reference": [ { "type": "PubMed", "id": "25564869", "url": "https://glygen.org/publication/PubMed/25564869" } ] }, { "title": "Studies on the mechanims of oxidative phosphorylation. 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U.S.A.", "date": "1995", "authors": "Horai S, Hayasaka K, Kondo R, Tsugane K, Takahata N", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "7530363", "url": "https://glygen.org/publication/PubMed/7530363" } ] }, { "title": "Novel mutations in mitochondrial cytochrome b in fatal post partum cardiomyopathy.", "journal": "Journal of inherited metabolic disease", "date": "1995", "authors": "Marin-Garcia J, Ananthakrishnan R, Gonzalvo A, Goldenthal MJ", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "7623448", "url": "https://glygen.org/publication/PubMed/7623448" } ] }, { "title": "A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance.", "journal": "Molecular and cellular probes", "date": "1996", "authors": "Dumoulin R, Sagnol I, Ferlin T, Bozon D, Stepien G, Mousson B", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "8910895", "url": "https://glygen.org/publication/PubMed/8910895" } ] }, { "title": "Somatic mutations of the mitochondrial genome in human colorectal tumours.", "journal": "Nature genetics", "date": "1998", "authors": "Polyak K, Li Y, Zhu H, Lengauer C, Willson JK, Markowitz SD, Trush MA, Kinzler KW, Vogelstein B", "evidence": [ { "database": "UniProtKB", "id": "P00156", "url": "https://www.uniprot.org/uniprot/P00156" } ], "reference": [ { "type": "PubMed", "id": "9806551", "url": "https://glygen.org/publication/PubMed/9806551" } ] }, { "title": "Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.", "journal": "Neurology", "date": "1998", "authors": "Andreu AL, Bruno C, Shanske S, Shtilbans A, Hirano M, Krishna S, Hayward L, Systrom DS, Brown RH Jr, DiMauro 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