Format

Send to:

Choose Destination

CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 [ Homo sapiens (human) ]

Gene ID: 400916, updated on 13-Jan-2019

Summary

Official Symbol
CHCHD10provided by HGNC
Official Full Name
coiled-coil-helix-coiled-coil-helix domain containing 10provided by HGNC
Primary source
HGNC:HGNC:15559
See related
Ensembl:ENSG00000250479 MIM:615903
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IMMD; SMAJ; MIX17A; FTDALS2; N27C7-4; C22orf16
Summary
This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]
Expression
Broad expression in heart (RPKM 56.7), colon (RPKM 43.9) and 20 other tissues See more
Orthologs

Genomic context

See CHCHD10 in Genome Data Viewer
Location:
22q11.23
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (23765834..23767972, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24108021..24110141, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 70 Neighboring gene V-set pre-B cell surrogate light chain 3 Neighboring gene chromosome 22 open reading frame 15 Neighboring gene uncharacterized LOC107985577 Neighboring gene matrix metallopeptidase 11

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
    Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC70831

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
maintenance of synapse structure ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial nucleoid organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion organization ISS
Inferred from Sequence or Structural Similarity
more info
 
oxidative phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cristae formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cytochrome-c oxidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mitochondrial transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of release of cytochrome c from mitochondria IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
protein-containing complex disassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
stabilization of membrane potential ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
MICOS complex IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial
Names
MIX17 homolog A

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.

Genomic

  1. NG_034223.1 RefSeqGene

    Range
    5001..7139
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001301339.1NP_001288268.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
    Source sequence(s)
    BC065232, BM128374, BM128609, CB112856
    Consensus CDS
    CCDS77659.1
    UniProtKB/Swiss-Prot
    Q8WYQ3
    UniProtKB/TrEMBL
    B5MBW9
    Related
    ENSP00000384973.3, ENST00000401675.7
    Conserved Domains (2) summary
    pfam06747
    Location:109140
    CHCH; CHCH domain
    cl26593
    Location:4088
    DUF2076; Uncharacterized protein conserved in bacteria (DUF2076)
  2. NM_213720.2NP_998885.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform b precursor

    See identical proteins and their annotated locations for NP_998885.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    BC065232, CB112856
    Consensus CDS
    CCDS13815.1
    UniProtKB/Swiss-Prot
    Q8WYQ3
    Related
    ENSP00000418428.2, ENST00000484558.2
    Conserved Domains (1) summary
    pfam06747
    Location:102133
    CHCH; CHCH domain

RNA

  1. NR_125755.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC065232, CB112856, CN273854
  2. NR_125756.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AI247342, BC065232, CB112856
    Related
    ENST00000520222.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    23765834..23767972 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187633.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    2196..4334 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center