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

    Gene ID: 131474, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:26467
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See CHCHD4 in Genome Data Viewer
    Location:
    3p25.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (14112077..14124870, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (14114022..14126815, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (14153577..14166370, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene tetrapeptide repeat homeobox like (pseudogene) Neighboring gene uncharacterized LOC112268445 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_64840 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:14098805-14100004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14106267-14106839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19495 Neighboring gene vomeronasal 1 receptor 21 pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:14163053-14163787 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:14163788-14164523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14088 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14165995-14166729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14166730-14167464 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14185247-14185934 Neighboring gene transmembrane protein 43 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14190053-14190737 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14192355-14192855 Neighboring gene XPC antisense RNA 1 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • FLJ31709

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-disulfide reductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein-disulfide reductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein-disulfide reductase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial intermembrane space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial intermembrane space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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)

    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.

    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
      A8K3Z9, Q8N4Q1, Q96AI2, Q96MY6
      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
      Related
      ENSP00000295767.5, ENST00000295767.9
      Conserved Domains (1) summary
      pfam06747
      Location:77113
      CHCH; CHCH domain

    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_000003.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      14114022..14126815 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)