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

Gene ID: 131474, updated on 7-Jun-2020

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
109.20200522 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 (pseudogene) Neighboring gene uncharacterized LOC112268445 Neighboring gene vomeronasal 1 receptor 21 pseudogene Neighboring gene transmembrane protein 43 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

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 
mitochondrial respiratory chain complex assembly 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 Updated 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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