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    CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 79145, updated on 25-Feb-2013
    Official Symbol
    CHCHD7provided by HGNC
    Official Full Name
    coiled-coil-helix-coiled-coil-helix domain containing 7provided by HGNC
    Primary source
    HGNC:28314
    See related
    Ensembl:ENSG00000170791; HPRD:13048; MIM:611238; Vega:OTTHUMG00000074081
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COX23
    Location :
    8q12.1
    Sequence :
    Chromosome: 8; NC_000008.10 (57124315..57131178)
    See CHCHD7 in Epigenomics, MapViewer

    Chromosome 8 - NC_000008.10Genomic Context describing neighboring genes Neighboring gene v-mos Moloney murine sarcoma viral oncogene homolog Neighboring gene pleiomorphic adenoma gene 1 Neighboring gene short chain dehydrogenase/reductase family 16C, member 5 Neighboring gene short chain dehydrogenase/reductase family 16C, member 6, pseudogene

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins. Banci L, et al. J Struct Biol, 2012 Oct. PMID 22842048.
    2. Genome-wide analysis of eukaryotic twin CX9C proteins. Cavallaro G. Mol Biosyst, 2010 Dec. PMID 20922212.
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624.
    4. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. Zhao J, et al. BMC Med Genet, 2010 Jun 14. PMID 20546612.
    5. Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966. Sovio U, et al. PLoS Genet, 2009 Mar. PMID 19266077.

    See all (12) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Molecular interactions guiding the protein recognition between Mia40 and the disulfide-reduced CHCHD5 and CHCHD7.
      Title: Structural characterization of CHCHD5 and CHCHD7: two atypical human twin CX9C proteins.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. 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.
      Title: CHCHD7-PLAG1 and TCEA1-PLAG1 gene fusions resulting from cryptic, intrachromosomal 8q rearrangements in pleomorphic salivary gland adenomas.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Markers

    Genotypes

    Homology

    Clone Names

    • MGC2217, FLJ40966

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    mitochondrial intermembrane space IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    coiled-coil-helix-coiled-coil-helix domain-containing protein 7
    Names
    coiled-coil-helix-coiled-coil-helix domain-containing protein 7
    COX23 cytochrome c oxidase assembly homolog

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001011667.1 → NP_001011667.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
      Source sequence(s)
      AY070434, BX473986
      UniProtKB/Swiss-Prot
      Q9BUK0

    2. NM_001011668.1 → NP_001011668.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' CDS, that causes a frameshift. The resulting isoform (b) is longer and has a distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC002546, BX473986
      Consensus CDS
      CCDS34895.1
      UniProtKB/TrEMBL
      J3KNE9
      UniProtKB/Swiss-Prot
      Q9BUK0
      Related
      ENSP00000306425, ENST00000303759
      Conserved Domains (1) summary
      cl02794
      Location:25 – 76
      Blast Score: 88
      Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...

    3. NM_001011669.1 → NP_001011669.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' CDS compared to variant 1, that causes a frameshift. The resulting isoform (c) is shorter and has a distinct N-terminus compared to isoform a.
      Source sequence(s)
      AY070434, BX473986
      Consensus CDS
      CCDS55232.1
      UniProtKB/Swiss-Prot
      Q9BUK0
      Related
      ENSP00000428274, OTTHUMP00000226428, ENST00000518801, OTTHUMT00000378228

    4. NM_001011670.1 → NP_001011670.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks the alternate exon containing the translation start site compared to variant 1. The resulting isoform (e) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AY070434, BX473986
      Consensus CDS
      CCDS55233.1
      UniProtKB/TrEMBL
      E9PBH3
      UniProtKB/Swiss-Prot
      Q9BUK0

    5. NM_001011671.1 → NP_001011671.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks the alternate exon containing the translation start site and uses an alternate splice site in the 3' CDS compared to variant 1, that causes a frameshift. The resulting isoform (f) is shorter at the N-terminus but has a longer and distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC002546, BX473986
      Consensus CDS
      CCDS34896.1
      UniProtKB/Swiss-Prot
      Q9BUK0
      Related
      ENSP00000347469, OTTHUMP00000226425, ENST00000355315, OTTHUMT00000378218
      Conserved Domains (1) summary
      cl02794
      Location:1 – 51
      Blast Score: 82
      Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...

    6. NM_024300.3 → NP_077276.2  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 5' CDS as well as in the 3' CDS compared to variant 1, that causes frameshifts. The resulting isoform (d) is longer and has distinct N- and C-termini compared to isoform a.
      Source sequence(s)
      BC002546, BX473986
      Consensus CDS
      CCDS6166.2
      UniProtKB/Swiss-Prot
      Q9BUK0
      Related
      ENSP00000428917, OTTHUMP00000082719, ENST00000523975, OTTHUMT00000157277
      Conserved Domains (1) summary
      cl02794
      Location:12 – 63
      Blast Score: 88
      Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000008.10 Reference GRCh37.p10 Primary Assembly

      Range
      57124315..57131178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000140.1 Alternate HuRef

      Range
      52591710..52598572
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018919.1 Alternate CHM1_1.0

      Range
      57222118..57228981
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01041764.1 (47689..54551) None
    genomic AC107952.5 (75347..82210) None
    genomic AMYH01018735.1 (107396..114259) None
    genomic CH471068.1 EAW86776.1
      EAW86777.1
      EAW86778.1
      EAW86779.1
    mRNA AK095922.1 None
    mRNA AK098285.1 None
    mRNA AK225982.1 None
    mRNA AK290088.1 BAF82777.1
    mRNA AY070434.1 AAL65261.1
    mRNA BC002546.2 AAH02546.2
    mRNA BX473986.1 None
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BUK0.1 GenPept UniProtKB/Swiss-Prot:Q9BUK0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • 3D structures
        3D structure of a gene
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

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