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    CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 [ Homo sapiens ]

    Gene ID: 84303, updated on 15-May-2012
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    Summary

    Official Symbol
    CHCHD6provided by HGNC
    Official Full Name
    coiled-coil-helix-coiled-coil-helix domain containing 6provided by HGNC
    Primary source
    HGNC:28184
    See related
    Ensembl:ENSG00000159685; HPRD:13047; Vega:OTTHUMG00000159601
    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
    CHCM1; PPP1R23; MGC13016
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    Genomic context

    Location :
    3q21.3
    Sequence :
    Chromosome: 3; NC_000003.11 (126423118..126679244)
    See CHCHD6 in Epigenomics, MapViewer

    Chromosome 3 - NC_000003.11Genomic Context describing neighboring genes Neighboring gene nucleoporin 210kDa pseudogene 1 Neighboring gene splicing factor 3a, subunit 2, 66kDa pseudogene Neighboring gene uncharacterized LOC100132481 Neighboring gene regulator of chromosome condensation 2 pseudogene 4 Neighboring gene plexin A1 Neighboring gene chromosome 3 open reading frame 56

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology. An J, et al. J Biol Chem, 2012 Mar 2. PMID 22228767.
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.
    3. Systematic analysis of human protein complexes identifies chromosome segregation proteins. Hutchins JR, et al. Science, 2010 Apr 30. PMID 20360068.
    4. Docking motif-guided mapping of the interactome of protein phosphatase-1. Hendrickx A, et al. Chem Biol, 2009 Apr 24. PMID 19389623.
    5. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. Trynka G, et al. Gut, 2009 Aug. PMID 19240061.

    See all (9) 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. CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology.
      Title: CHCM1/CHCHD6, novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology.
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    4. anti-mitofilin mAb immunocaptures its target protein in association with six other proteins, metaxins 1 and 2, SAM50, CHCHD3, CHCHD6 and DnaJC11, respectively
      Title: The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:124029 BioGRID:199505 Erh    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:124029 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

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    General protein information

    Preferred Names
    coiled-coil-helix-coiled-coil-helix domain-containing protein 6, mitochondrial
    Names
    coiled-coil-helix-coiled-coil-helix domain-containing protein 6, mitochondrial
    coiled coil helix cristae morphology 1
    coiled-coil-helix cristae morphology 1
    protein phosphatase 1, regulatory subunit 23
    coiled coil helix cristae morphology protein 1
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    NCBI Reference Sequences (RefSeq)

    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_032343.2 → NP_115719.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 6, mitochondrial

      Status: VALIDATED

      Source sequence(s)
      AC117450, BC006123, DN992600
      Consensus CDS
      CCDS3041.1
      UniProtKB/Swiss-Prot
      Q9BRQ6
      Related
      ENSP00000290913, OTTHUMP00000215951, ENST00000290913, OTTHUMT00000356432
      Conserved Domains (1) summary
      pfam05300
      Location:16 – 189
      Blast Score: 356
      DUF737; Protein of unknown function (DUF737)

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000003.11 Reference GRCh37.p5 Primary Assembly

      Range
      126423118..126679244
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000135.1 Alternate HuRef

      Range
      123803086..124058210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC078867.11 (50817..132700) None
    genomic AC092898.15 None
    genomic AC117450.7 (2004..55316) None
    genomic CH471052.2 EAW79352.1
    mRNA AK310910.1 None
    mRNA AK311056.1 None
    mRNA BC006123.1 AAH06123.1
    mRNA JF264889.1 AEA95848.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BRQ6.1 GenPept UniProtKB/Swiss-Prot:Q9BRQ6
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    Additional Links

    Gene LinkOut

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

    Chemical Information
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