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    CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 131474, updated on 17-Jun-2019

    Summary

    Official Symbol
    CHCHD4provided by HGNC
    Official Full Name
    coiled-coil-helix-coiled-coil-helix domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:26467
    See related
    Ensembl:ENSG00000163528 MIM:611077
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MIA40; TIMM40
    Summary
    CHCHD4, a component of human mitochondria, belongs to a protein family whose members share 6 highly conserved cysteine residues constituting a -CXC-CX(9)C-CX(9)C- motif in the C terminus (Hofmann et al., 2005 [PubMed 16185709]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 8.0), duodenum (RPKM 6.4) and 25 other tissues See more
    Orthologs

    Genomic context

    See CHCHD4 in Genome Data Viewer
    Location:
    3p25.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (14112077..14124870, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (14153577..14166371, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene tetrapeptide repeat homeobox like Neighboring gene uncharacterized LOC112268445 Neighboring gene vomeronasal 1 receptor 21 pseudogene Neighboring gene transmembrane protein 43 Neighboring gene uncharacterized LOC107986063 Neighboring gene XPC complex subunit, DNA damage recognition and repair factor

    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

    Homology

    Clone Names

    • FLJ31709

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein disulfide oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein disulfide oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein disulfide oxidoreductase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    'de novo' posttranslational protein folding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    peptidyl-cysteine oxidation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein import into mitochondrial intermembrane space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein import into mitochondrial intermembrane space IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein maturation by protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein maturation by protein folding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrial intermembrane space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    mitochondrial intermembrane space import and assembly protein 40
    Names
    coiled-coil-helix-coiled-coil-helix domain-containing protein 4
    translocase of inner mitochondrial membrane 40 homolog

    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.

    mRNA and Protein(s)

    1. NM_001098502.2NP_001091972.1  mitochondrial intermembrane space import and assembly protein 40 isoform 1

      See identical proteins and their annotated locations for NP_001091972.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the predominant transcript. It does not contain an N-terminal, cleavable mitochondrial target sequence, yet experimental studies have determined that the encoded protein (isoform 1) is found within the intermembrane space of the mitochondrion.
      Source sequence(s)
      BC017082, BC033775, DB452249, DB501565
      Consensus CDS
      CCDS43054.1
      UniProtKB/Swiss-Prot
      Q8N4Q1
      UniProtKB/TrEMBL
      A0A024R2I5
      Related
      ENSP00000380122.3, ENST00000396914.4
      Conserved Domains (1) summary
      pfam06747
      Location:64100
      CHCH; CHCH domain
    2. NM_144636.3NP_653237.1  mitochondrial intermembrane space import and assembly protein 40 isoform 2

      See identical proteins and their annotated locations for NP_653237.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate segment for the 5' coding region and uses a downstream start codon, compared to variant 1. Variant 2 is found at a much lower frequency than variant 1. The predicted protein (isoform 2) is longer and has a distinct and longer N-terminus, compared to isoform 1.
      Source sequence(s)
      AK056271, BC017082, DB452249
      Consensus CDS
      CCDS2617.1
      UniProtKB/Swiss-Prot
      Q8N4Q1
      UniProtKB/TrEMBL
      A0A024R2F8
      Related
      ENSP00000295767.5, ENST00000295767.9
      Conserved Domains (1) summary
      pfam06747
      Location:77113
      CHCH; CHCH domain

    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.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      14112077..14124870 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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