Human Gene CHCHD6 (ENST00000290913.8_10) from GENCODE V47lift37
  Description: coiled-coil-helix-coiled-coil-helix domain containing 6, transcript variant 2 (from RefSeq NM_032343.3)
Gencode Transcript: ENST00000290913.8_10
Gencode Gene: ENSG00000159685.11_13
Transcript (Including UTRs)
   Position: hg19 chr3:126,423,083-126,679,263 Size: 256,181 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr3:126,423,156-126,679,044 Size: 255,889 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:126,423,083-126,679,263)mRNA (may differ from genome)Protein (235 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CHCH6_HUMAN
DESCRIPTION: RecName: Full=Coiled-coil-helix-coiled-coil-helix domain-containing protein 6, mitochondrial; AltName: Full=Coiled coil helix cristae morphology protein 1;
FUNCTION: Required for maintaining mitochondrial crista morphology, ATP production and oxygen consumption.
SUBUNIT: Interacts with CHCHD3 and DISC1. Interacts with IMMT; the interaction is direct.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Lipid-anchor (Probable).
INDUCTION: Down-regulated following genotoxic stress.
SIMILARITY: Belongs to the CHCHD6 family.
SIMILARITY: Contains 1 CHCH domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.79 RPKM in Testis
Total median expression: 223.82 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.9073-0.451 Picture PostScript Text
3' UTR -71.70219-0.327 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007964 - DUF737

Pfam Domains:
PF05300 - MICOS complex subunit MIC19/MIC25

ModBase Predicted Comparative 3D Structure on Q9BRQ6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006974 cellular response to DNA damage stimulus
GO:0042407 cristae formation

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005829 cytosol
GO:0016020 membrane
GO:0061617 MICOS complex


-  Descriptions from all associated GenBank mRNAs
  AK311056 - Homo sapiens cDNA, FLJ18098.
AK310910 - Homo sapiens cDNA, FLJ17952.
BC006123 - Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 6, mRNA (cDNA clone MGC:13016 IMAGE:3535457), complete cds.
JF264889 - Homo sapiens coiled-coil-helix cristae morphology 1 (CHCM1) mRNA, complete cds.
KJ894972 - Synthetic construct Homo sapiens clone ccsbBroadEn_04366 CHCHD6 gene, encodes complete protein.
JD475401 - Sequence 456425 from Patent EP1572962.
JD368238 - Sequence 349262 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BRQ6 (Reactome details) participates in the following event(s):

R-HSA-8949613 Cristae formation
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-1852241 Organelle biogenesis and maintenance

-  Other Names for This Gene
  Alternate Gene Symbols: CHCM1, D6R9U0, D6RIB4, ENST00000290913.1, ENST00000290913.2, ENST00000290913.3, ENST00000290913.4, ENST00000290913.5, ENST00000290913.6, ENST00000290913.7, H8Y0Y7, MIC25, MIC25_HUMAN, NM_032343, Q9BRQ6, uc317kwp.1, uc317kwp.2
UCSC ID: ENST00000290913.8_10
RefSeq Accession: NM_032343.3
Protein: Q9BRQ6 (aka CHCH6_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.