{ "uniprot_canonical_ac": "Q9BUK0-1", "uniprot_ac": "Q9BUK0", "uniprot_id": "CHCH7_HUMAN", "mass": { "chemical_mass": 10095.0, "monoisotopic_mass": 10095.0 }, "refseq": { "ac": "NP_001304788", "name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform g", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304788" }, "gene_names": [ { "name": "CHCHD7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9BUK0", "id": "Q9BUK0" }, { "name": "CHCHD7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304788", "id": "NP_001304788" }, { "name": "COX23", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304788", "id": "NP_001304788" } ], "protein_names": [ { "name": "Coiled-coil-helix-coiled-coil-helix domain-containing protein 7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9BUK0" }, { "name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011667", "id": "NP_001011667" }, { "name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform g", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304788", "id": "NP_001304788" }, { "name": "coiled-coil-helix-coiled-coil-helix domain-containing protein 7; COX23 cytochrome c oxidase assembly homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011667", "id": "NP_001011667" } ], "function": [ { "annotation": "CHCHD7 is a newly identified member of a ubiquitously expressed multifamily of proteins containing a conserved (coiled coil 1)-(helix 1)-(coiled coil 2)-(helix 2) domain; it has not been previously associated with neoplasia.", "evidence": [ { "database": "RefSeq", "id": "NP_001304788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304788" }, { "database": "PubMed", "id": "16736500", "url": "https://glygen.org/publication/PubMed/16736500" }, { "database": "RefSeq", "id": "NP_001011667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011667" } ] }, { "annotation": "Molecular interactions guiding the protein recognition between Mia40 and the disulfide-reduced CHCHD5 and CHCHD7.", "evidence": [ { "database": "RefSeq", "id": "NP_001304788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304788" }, { "database": "PubMed", "id": "22842048", "url": "https://glygen.org/publication/PubMed/22842048" }, { "database": "RefSeq", "id": "NP_001011667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011667" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001304788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304788" }, { "database": "PubMed", "id": "19266077", "url": "https://glygen.org/publication/PubMed/19266077" }, { "database": "RefSeq", "id": "NP_001011667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011667" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001304788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304788" }, { "database": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" }, { "database": "PubMed", "id": "20546612", "url": "https://glygen.org/publication/PubMed/20546612" }, { "database": "RefSeq", "id": "NP_001011667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011667" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "84.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170791", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170791" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "87.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170791", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170791" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "82.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170791", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170791" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "67.8", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000170791", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170791" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170791", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170791" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "94.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170791", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170791" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "74.9", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000170791", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170791" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.15", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170791", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170791" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "90.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170791", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170791" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "74.82", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000170791", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170791" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170791", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170791" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "90.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170791", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170791" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170791", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170791" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q9BUK0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9BUK0" } ], "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": 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"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": 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"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": 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"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, 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peptidasome, PreP.", "journal": "The Journal of biological chemistry", "date": "2006", "authors": "Falkevall A, Alikhani N, Bhushan S, Pavlov PF, Busch K, Johnson KA, Eneqvist T, Tjernberg L, Ankarcrona M, Glaser E", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "16849325", "url": "https://glygen.org/publication/PubMed/16849325" } ] }, { "title": "Conserved roles of Sam50 and metaxins in VDAC biogenesis.", "journal": "EMBO reports", "date": "2007", "authors": "Kozjak-Pavlovic V, Ross K, Benlasfer N, Kimmig S, Karlas A, Rudel T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" } ], "reference": [ { "type": "PubMed", "id": "17510655", "url": "https://glygen.org/publication/PubMed/17510655" } ] }, { "title": "Multiple pathways for sorting mitochondrial precursor proteins.", "journal": 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"journal": "PLoS genetics", "date": "2009", "authors": "Sovio U, Bennett AJ, Millwood IY, Molitor J, O'Reilly PF, Timpson NJ, Kaakinen M, Laitinen J, Haukka J, Pillas D, Tzoulaki I, Molitor J, Hoggart C, Coin LJ, Whittaker J, Pouta A, Hartikainen AL, Freimer NB, Widen E, Peltonen L, Elliott P, McCarthy MI, Jarvelin MR", "evidence": [ { "database": "RefSeq", "id": "NP_001304788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304788" }, { "database": "RefSeq", "id": "NP_001011667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011667" } ], "reference": [ { "type": "PubMed", "id": "19266077", "url": "https://glygen.org/publication/PubMed/19266077" } ] }, { "title": "The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.", "journal": "American journal of human genetics", "date": "2009", "authors": "Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, 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"2010", "authors": "Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF", "evidence": [ { "database": "RefSeq", "id": "NP_001011667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001011667" }, { "database": "RefSeq", "id": "NP_001304788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304788" } ], "reference": [ { "type": "PubMed", "id": "20546612", "url": "https://glygen.org/publication/PubMed/20546612" } ] }, { "title": "Structure of the human sulfhydryl oxidase augmenter of liver regeneration and characterization of a human mutation causing an autosomal recessive myopathy .", "journal": "Biochemistry", "date": "2010", "authors": "Daithankar VN, Schaefer SA, Dong M, Bahnson BJ, Thorpe C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1268020", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1268020" 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