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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CHCHD6 Gene

protein-coding   GIFtS: 45
GCID: GC03P126423

coiled-coil-helix-coiled-coil-helix domain containing 6

  Search for CHCHD6
in our new
 Human Malady Compendium 
Biological research products
for CHCHD6
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 61 2     Coiled Coil Helix Cristae Morphology 12
CHCM11 2 3     Coiled-Coil-Helix Cristae Morphology 12
PPP1R231 2     Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 6, Mitochondrial2
Coiled Coil Helix Cristae Morphology Protein 12 3     Protein Phosphatase 1, Regulatory Subunit 232
MGC130161     

External Ids:    HGNC: 281841   Entrez Gene: 843032   Ensembl: ENSG000001596857   UniProtKB: Q9BRQ63   

Export aliases for CHCHD6 gene to outside databases

Previous GC identifers: GC03P127744 GC03P127905 GC03P123803


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: CHCH6_HUMAN, Q9BRQ6
Function: Required for maintaining mitochondrial crista morphology, ATP production and oxygen consumption




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHCHD6 gene promoter:
         Oct-B1   Nkx3-1   Nkx3-1 v4   oct-B3   oct-B2   Nkx3-1 v1   Nkx3-1 v2   POU2F1   POU2F1a   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHCHD6 promoter sequence
   Search SABiosciences Chromatin IP Primers for CHCHD6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHCHD6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q21.3   Ensembl cytogenetic band:  3q21.3   HGNC cytogenetic band: 3q21.3

CHCHD6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHCHD6 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P126423:  view genomic region     (about GC identifiers)

Start:
126,423,063 bp from pter      End:
126,679,249 bp from pter
Size:
256,187 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CHCH6_HUMAN, Q9BRQ6 (See protein sequence)
Recommended Name: Coiled-coil-helix-coiled-coil-helix domain-containing protein 6, mitochondrial  
Size: 235 amino acids; 26458 Da
Subunit: Interacts with CHCHD3 and DISC1. Interacts with IMMT; the interaction is direct
Subcellular location: Mitochondrion inner membrane; Lipid-anchor (Probable)
Secondary accessions: D6R9U0 D6RIB4 H8Y0Y7

Explore the universe of human proteins at neXtProt for CHCHD6: NX_Q9BRQ6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BRQ6

  • CHCHD6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_115719.1  
    ENSEMBL proteins: 
     ENSP00000290913   ENSP00000427517   ENSP00000422912   ENSP00000422787  

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    Uscn Proteins for CHCHD6

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IMP--
    GO:0005743mitochondrial inner membrane IDA--


    CHCHD6 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CHCHD6


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CHCHD6 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007964 DUF737

    Graphical View of Domain Structure for InterPro Entry Q9BRQ6

    ProtoNet protein and cluster: Q9BRQ6

    1 Blocks protein family: IPB010625 CHCH

    UniProtKB/Swiss-Prot: CHCH6_HUMAN, Q9BRQ6
    Similarity: Belongs to the CHCHD6 family
    Similarity: Contains 1 CHCH domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: CHCH6_HUMAN, Q9BRQ6
    Function: Required for maintaining mitochondrial crista morphology, ATP production and oxygen consumption
    Induction: Down-regulated following genotoxic stress

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    hsa-miR-570
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    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    CHCHD6 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHCHD6

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/8 Interacting proteins for CHCHD6 (Q9BRQ62, 3 ENSP000002909134) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    IMMTQ168912, ENSP000003872624MINT-5007196 STRING: ENSP00000387262
    CHCHD3Q9NX632MINT-5007196
    DNAJC11Q9NVH12MINT-5007196
    MTX1Q135052MINT-5007196
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006974response to DNA damage stimulus IDA--
    GO:0042407cristae formation IMP--


    CHCHD6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHCHD6
    Search CenterWatch for drugs/clinical trials and news about CHCHD6 / CHCH6 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CHCHD6 gene: 
    NM_032343.2  

    Unigene Cluster for CHCHD6:

    Coiled-coil-helix-coiled-coil-helix domain containing 6
    Hs.518119  [show with all ESTs]
    Unigene Representative Sequence: BU146817
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000290913(uc003ejf.1) ENST00000503119 ENST00000508789(uc010hsj.1)
    ENST00000514908 ENST00000513253 ENST00000515867 ENST00000504973 ENST00000510044


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    1 QIAGEN miScript miRNA Assays for microRNA that regulate CHCHD6:
    hsa-miR-570
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK310910.1 AK311056.1 BC006123.1 JF264889.1 

    10 DOTS entries:

    DT.440950  DT.113352  DT.97859860  DT.120885873  DT.100730127  DT.120885891  DT.95277804  DT.91752016 
    DT.95344432  DT.97771851 

    24/178 AceView cDNA sequences (see all 178):

    CD676241 BM713328 BM758187 AL522151 AI092411 BE265275 BQ185922 CF126500 
    AA688216 BM684502 NM_032343 AW628914 BM727213 BU740774 BC006123 AI890974 
    AI241133 BM674675 CD672888 BG205002 BM681429 BM931016 BM462603 BQ214808 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CHCHD6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGACCACAGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    CHCHD6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartEndocardiumEndocardial Tube CellsEndocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CHCHD6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHCHD6

    SOURCE GeneReport for Unigene cluster: Hs.518119
        SABiosciences Custom PCR Arrays for CHCHD6
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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CHCHD6

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CHCHD6 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chchd61 , 5 coiled-coil-helix-coiled-coil-helix domain containing more1, 5 78.01(n)1
    68.51(a)1
      6 (39.91 cM)5
    660981  NM_025351.31  NP_079627.31 
     893831465 
    chicken
    (Gallus gallus)
    Aves CHCHD61 coiled-coil-helix-coiled-coil-helix domain containing more 60.26(n)
    51.28(a)
      416029  XM_414369.3  XP_414369.2 
    lizard
    (Anolis carolinensis)
    Reptilia CHCHD66
    --
    42(a)
    1 ↔ 1
    2(166283538-166293377)
    zebrafish
    (Danio rerio)
    Actinopterygii chchd6a1 coiled-coil-helix-coiled-coil-helix domain containing more 53.45(n)
    42.24(a)
      449542  NM_001005584.1  NP_001005584.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(3)036706
    lethal (3) 03670
    18(a)
    1 → many
    3R(26878338-26879637)


    ENSEMBL Gene Tree for CHCHD6 (if available)
    TreeFam Gene Tree for CHCHD6 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHCHD6 gene
    CHCHD32  
    1 SIMAP similar gene for CHCHD6 using alignment to 4 protein entries:     CHCH6_HUMAN (see all proteins):
    CHCHD3

    CHCHD6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3887 NCBI SNPs in CHCHD6 are shown (see all 3887    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs750612061,2
    C,--123804464(+) ACCCAG/ATAAAA 1 -- us2k12Minor allele frequency- A:0.11CSA WA 120
    rs119283171,2
    H--123805302(+) CTGTCC/TTGACA 1 -- us2k10--------
    rs1166127711,2
    C,F,--123805569(+) TGAGGG/ATTGAG 1 -- us2k11Minor allele frequency- A:0.04NA 120
    rs117131031,2
    H--123806155(+) TTCAAA/CCCGTA 1 -- us2k10--------
    rs738595861,2
    C,--123806158(+) AAACCG/ATAATT 1 -- us2k12Minor allele frequency- A:0.10WA 120
    rs92892831,2
    C,F,A,H,--123806406(+) AGCATC/TCAGAC 1 -- nc-transcript-variant15Minor allele frequency- T:0.22NS EA NA WA CSA 1488
    rs731998831,2
    C,F,--123806499(+) TATCCC/TCTCCA 1 -- nc-transcript-variant1Minor allele frequency- T:0.04NA 120
    rs1140832001,2
    C,F,--123806529(+) TCATGC/TATTGC 1 -- nc-transcript-variant1Minor allele frequency- T:0.03NA 120
    rs11775791,2
    A,H--123807252(-) CTCCAG/AAATAA 1 -- nc-transcript-variant8Minor allele frequency- A:0.00NS EA NA 672
    rs98092151,2
    C,F,A,H,--126421345(+) AAAAGG/ATAATT 1 -- us2k1 tfbs3 trp319Minor allele frequency- A:0.21NS EA NA WA CSA 2340

    HapMap Linkage Disequilibrium report for CHCHD6 (126423063 - 126673063 bp, first 250kb of CHCHD6)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for CHCHD6
         3 CNVs: 23662 68452 98439
         3 Indels: 12332 41563 11208

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CHCHD6 for disorders           About MalaCards

    CHCHD6 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: CHCHD6 (2 documents)

    Export disorders for CHCHD6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CHCHD6 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with CHCHD6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CHCM1/CHCHD6, a novel mitochondrial protein linked to regulation of mitofilin and mitochondrial cristae morphology. (PubMed id 22228767)1, 2, 3 An J.... Sheikh M.S. (2012)
    2. 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. (PubMed id 17624330)1, 2, 3 Xie J....Capaldi R.A. (2007)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    8. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    9. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1 Trynka G....Wijmenga C. (2009)
    10. Docking motif-guided mapping of the interactome of protein phosphatase-1. (PubMed id 19389623)1 Hendrickx A.... Bollen M. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84303 HGNC: 28184 AceView: CHCHD6 Ensembl:ENSG00000159685 euGenes: HUgn84303
    ECgene: CHCHD6 H-InvDB: CHCHD6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CHCHD6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CHCHD6 gene:
    Search GeneIP for patents involving CHCHD6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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