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

    Gene ID: 400916, updated on 5-Mar-2024

    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; 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
    NEW
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    Genomic context

    See CHCHD10 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (23765834..23767972, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (24213028..24215165, complement)
    105.20220307 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

    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 Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    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_001301339.2NP_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:109140
      CHCH; CHCH domain
      cl26593
      Location:4088
      DUF2076; Uncharacterized protein conserved in bacteria (DUF2076)
    2. NM_213720.3NP_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:102133
      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_2023_10

    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)