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

    Gene ID: 400916, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:15559
    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
    mouse all
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    Genomic context

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    See CHCHD10 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (23765834..23767972, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (24213028..24215165, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24108021..24110159, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 70 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:24087516-24088016 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:24088017-24088517 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:24093057-24093732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18759 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24095085-24095758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24096535-24097035 Neighboring gene V-set pre-B cell surrogate light chain 3 Neighboring gene chromosome 22 open reading frame 15 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24107697-24108496 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24108497-24109296 Neighboring gene uncharacterized LOC107985577 Neighboring gene matrix metallopeptidase 11 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24122834-24123832

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NDV inhibited IFN-beta secretion through impeding CHCHD10-mediated mitochondrial fusion to promote viral proliferation.
      Title: NDV inhibited IFN-β secretion through impeding CHCHD10-mediated mitochondrial fusion to promote viral proliferation.
    2. Disruption of Mitophagy Flux through the PARL-PINK1 Pathway by CHCHD10 Mutations or CHCHD10 Depletion.
      Title: Disruption of Mitophagy Flux through the PARL-PINK1 Pathway by CHCHD10 Mutations or CHCHD10 Depletion.
    3. Effects of the Jokela type of spinal muscular atrophy-related G66V mutation on the structural ensemble characteristics of CHCHD10.
      Title: Effects of the Jokela type of spinal muscular atrophy-related G66V mutation on the structural ensemble characteristics of CHCHD10.
    4. CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.
      Title: CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability.
    5. CHCHD10 Modulates Thermogenesis of Adipocytes by Regulating Lipolysis.
      Title: CHCHD10 Modulates Thermogenesis of Adipocytes by Regulating Lipolysis.
    6. Modulation of synaptic plasticity, motor unit physiology, and TDP-43 pathology by CHCHD10.
      Title: Modulation of synaptic plasticity, motor unit physiology, and TDP-43 pathology by CHCHD10.
    7. Structures of the Wild-Type and S59L Mutant CHCHD10 Proteins Important in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.
      Title: Structures of the Wild-Type and S59L Mutant CHCHD10 Proteins Important in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.
    8. Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses.
      Title: Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses.
    9. Meta-analysis of the association between CHCHD10 Pro34Ser variant and the risk of amyotrophic lateral sclerosis.
      Title: Meta-analysis of the association between CHCHD10 Pro34Ser variant and the risk of amyotrophic lateral sclerosis.
    10. ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons.
      Title: ALS and Parkinson's disease genes CHCHD10 and CHCHD2 modify synaptic transcriptomes in human iPSC-derived motor neurons.
    Submit: New GeneRIF Correction See all GeneRIFs (44)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC70831

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in maintenance of protein location in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in maintenance of synapse structure ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in mitochondria-nucleus signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial nucleoid organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrion organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrion organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrion organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in oxidative phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cristae formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of mitochondrial transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein-containing complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in stabilization of membrane potential ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    part_of MICOS complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001301339.2 → NP_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/TrEMBL
      B5MBW9
      Related
      ENSP00000384973.3, ENST00000401675.7
      Conserved Domains (2) summary
      pfam06747
      Location:109 → 140
      CHCH; CHCH domain
      cl26593
      Location:40 → 88
      DUF2076; Uncharacterized protein conserved in bacteria (DUF2076)

    2. NM_213720.3 → NP_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
      A8K0J5, Q8WYQ3
      Related
      ENSP00000418428.3, ENST00000484558.3
      Conserved Domains (1) summary
      pfam06747
      Location:102 → 133
      CHCH; CHCH domain

    RNA

    1. NR_125755.2 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_125756.2 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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

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

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187633.1 Reference GRCh38.p14 ALT_REF_LOCI_1

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      24213028..24215165 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WYQ3.1 GenPept UniProtKB/Swiss-Prot:Q8WYQ3

    Gene LinkOut

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

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