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Aliases for CHCHD4 Gene

Aliases for CHCHD4 Gene

  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 4 2 3
  • MIA40 3 4 6
  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 4 3 4
  • Mitochondrial Intermembrane Space Import And Assembly 40 Homolog (S. Cerevisiae) 2
  • Translocase Of Inner Mitochondrial Membrane 40 Homolog (S. Cerevisiae) 2
  • Mitochondrial Intermembrane Space Import And Assembly 40 Homolog 3
  • Mitochondrial Intermembrane Space Import And Assembly Protein 40 3
  • Translocase Of Inner Mitochondrial Membrane 40 Homolog 3
  • TIMM40 3
  • CHDH4 6

External Ids for CHCHD4 Gene

Summaries for CHCHD4 Gene

Entrez Gene Summary for CHCHD4 Gene

  • 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]

GeneCards Summary for CHCHD4 Gene

CHCHD4 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 4) is a Protein Coding gene. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Mitochondrial Protein Import. GO annotations related to this gene include protein disulfide oxidoreductase activity.

UniProtKB/Swiss-Prot for CHCHD4 Gene

  • Functions as chaperone and catalyzes the formation of disulfide bonds in substrate proteins, such as COX17. Required for the import and folding of small cysteine-containing proteins (small Tim) in the mitochondrial intermembrane space (IMS). Precursor proteins to be imported into the IMS are translocated in their reduced form into the mitochondria. The oxidized form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with the reduced precursor protein, resulting in oxidation of the precursor protein that now contains an intramolecular disulfide bond and is able to undergo folding in the IMS. Reduced CHCHD4/MIA40 is then reoxidized by GFER/ERV1 via a disulfide relay system.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHCHD4 Gene

Genomics for CHCHD4 Gene

Genomic Location for CHCHD4 Gene

Start:
14,112,077 bp from pter
End:
14,124,871 bp from pter
Size:
12,795 bases
Orientation:
Minus strand

Genomic View for CHCHD4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHCHD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHCHD4 Gene

Regulatory Elements for CHCHD4 Gene

Proteins for CHCHD4 Gene

  • Protein details for CHCHD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N4Q1-MIA40_HUMAN
    Recommended name:
    Mitochondrial intermembrane space import and assembly protein 40
    Protein Accession:
    Q8N4Q1
    Secondary Accessions:
    • A8K3Z9
    • Q96AI2
    • Q96MY6

    Protein attributes for CHCHD4 Gene

    Size:
    142 amino acids
    Molecular mass:
    15996 Da
    Quaternary structure:
    • Monomer. Can form homooligomers. Interacts with GFER and forms transient disulfide bonds with GFER.

    Three dimensional structures from OCA and Proteopedia for CHCHD4 Gene

    Alternative splice isoforms for CHCHD4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHCHD4 Gene

Proteomics data for CHCHD4 Gene at MOPED

Post-translational modifications for CHCHD4 Gene

  • Forms intrachain disulfide bridges, but exists in different redox states
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHCHD4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CHCHD4 Gene

Domains for CHCHD4 Gene

Gene Families for CHCHD4 Gene

HGNC:
  • CHCHD :Coiled-coil-helix-coiled-coil-helix domain containing

Protein Domains for CHCHD4 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

MIA40_HUMAN
Domain:
  • The CHCH domain contains a conserved twin Cys-X(9)-Cys motif which is required for import and stability of MIA40 in mitochondria.:
    • Q8N4Q1
  • Contains 1 CHCH domain.:
    • Q8N4Q1
genes like me logo Genes that share domains with CHCHD4: view

Function for CHCHD4 Gene

Molecular function for CHCHD4 Gene

UniProtKB/Swiss-Prot Function: Functions as chaperone and catalyzes the formation of disulfide bonds in substrate proteins, such as COX17. Required for the import and folding of small cysteine-containing proteins (small Tim) in the mitochondrial intermembrane space (IMS). Precursor proteins to be imported into the IMS are translocated in their reduced form into the mitochondria. The oxidized form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with the reduced precursor protein, resulting in oxidation of the precursor protein that now contains an intramolecular disulfide bond and is able to undergo folding in the IMS. Reduced CHCHD4/MIA40 is then reoxidized by GFER/ERV1 via a disulfide relay system.

Gene Ontology (GO) - Molecular Function for CHCHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015035 protein disulfide oxidoreductase activity IMP 19182799
genes like me logo Genes that share ontologies with CHCHD4: view

Phenotypes for CHCHD4 Gene

GenomeRNAi human phenotypes for CHCHD4:
genes like me logo Genes that share phenotypes with CHCHD4: view

miRNA for CHCHD4 Gene

miRTarBase miRNAs that target CHCHD4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CHCHD4 Gene

Localization for CHCHD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHCHD4 Gene

Mitochondrion intermembrane space.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHCHD4 Gene COMPARTMENTS Subcellular localization image for CHCHD4 gene
Compartment Confidence
mitochondrion 5
cytosol 3
extracellular 2
golgi apparatus 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CHCHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 24101517
GO:0005758 mitochondrial intermembrane space IDA 16185709
genes like me logo Genes that share ontologies with CHCHD4: view

Pathways for CHCHD4 Gene

genes like me logo Genes that share pathways with CHCHD4: view

Pathways by source for CHCHD4 Gene

2 Reactome pathways for CHCHD4 Gene

Gene Ontology (GO) - Biological Process for CHCHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006626 protein targeting to mitochondrion TAS --
GO:0022417 protein maturation by protein folding IMP 21059946
GO:0034599 cellular response to oxidative stress IEA --
GO:0043504 mitochondrial DNA repair IEA --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with CHCHD4: view

Transcripts for CHCHD4 Gene

mRNA/cDNA for CHCHD4 Gene

Unigene Clusters for CHCHD4 Gene

Coiled-coil-helix-coiled-coil-helix domain containing 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHCHD4 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c
SP1:
SP2: -
SP3: - -

Relevant External Links for CHCHD4 Gene

GeneLoc Exon Structure for
CHCHD4
ECgene alternative splicing isoforms for
CHCHD4

Expression for CHCHD4 Gene

mRNA expression in normal human tissues for CHCHD4 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHCHD4 Gene

SOURCE GeneReport for Unigene cluster for CHCHD4 Gene Hs.517815

mRNA Expression by UniProt/SwissProt for CHCHD4 Gene

Q8N4Q1-MIA40_HUMAN
Tissue specificity: Expressed in all tissues tested, suggesting an ubiquitous expression.
genes like me logo Genes that share expressions with CHCHD4: view

Orthologs for CHCHD4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CHCHD4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHCHD4 36
  • 99.53 (n)
  • 99.3 (a)
CHCHD4 37
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHCHD4 36
  • 83.94 (n)
  • 85.4 (a)
CHCHD4 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHCHD4 36
  • 90 (n)
  • 92.14 (a)
CHCHD4 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia AU015836 37
  • 35 (a)
OneToOne
Chchd4 36
  • 83.69 (n)
  • 86.33 (a)
Chchd4 16
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 75 (a)
OneToMany
-- 37
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CHCHD4 37
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chchd4 36
  • 86.33 (n)
  • 87.05 (a)
chicken
(Gallus gallus)
Aves CHCHD4 36
  • 76.09 (n)
  • 84.06 (a)
CHCHD4 37
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHCHD4 37
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.29530 36
tropical clawed frog
(Silurana tropicalis)
Amphibia chchd4 36
  • 75.54 (n)
  • 82.01 (a)
MGC76323 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6483 36
zebrafish
(Danio rerio)
Actinopterygii chchd4 36
  • 77.57 (n)
  • 86.92 (a)
chchd4 37
  • 66 (a)
OneToMany
CHCHD4 (2 of 2) 37
  • 44 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002940 36
  • 62.75 (n)
  • 61.76 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7950 36
  • 61 (n)
  • 60 (a)
CG7950 37
  • 40 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIA40 37
  • 13 (a)
OneToOne
MIA40 39
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10518 37
  • 34 (a)
OneToOne
Species with no ortholog for CHCHD4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CHCHD4 Gene

ENSEMBL:
Gene Tree for CHCHD4 (if available)
TreeFam:
Gene Tree for CHCHD4 (if available)

Paralogs for CHCHD4 Gene

genes like me logo Genes that share paralogs with CHCHD4: view

No data available for Paralogs for CHCHD4 Gene

Variants for CHCHD4 Gene

Sequence variations from dbSNP and Humsavar for CHCHD4 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs1133118 -- 14,112,277(-) CCTTT(C/T)TAAGT utr-variant-3-prime
rs1545630 -- 14,113,482(+) ATTTA(A/G)CCCAA intron-variant
rs2607746 -- 14,114,863(+) TCAAA(C/G)ATGCA intron-variant
rs2607747 -- 14,116,390(+) GTGCC(C/G)TGGTG intron-variant
rs2607748 -- 14,117,225(+) CTTGT(C/T)CACAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHCHD4 Gene

Variant ID Type Subtype PubMed ID
nsv876550 CNV Loss 21882294
esv34163 CNV Loss 18971310
esv2724945 CNV Deletion 23290073
esv2724947 CNV Deletion 23290073
esv3573 CNV Deletion 18987735

Relevant External Links for CHCHD4 Gene

HapMap Linkage Disequilibrium report
CHCHD4

Disorders for CHCHD4 Gene

Relevant External Links for CHCHD4

Genetic Association Database (GAD)
CHCHD4
Human Genome Epidemiology (HuGE) Navigator
CHCHD4
genes like me logo Genes that share disorders with CHCHD4: view

No data available for UniProtKB/Swiss-Prot for CHCHD4 Gene

Publications for CHCHD4 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Functional and mutational characterization of human MIA40 acting during import into the mitochondrial intermembrane space. (PMID: 16185709) Hofmann S. … Bauer M.F. (J. Mol. Biol. 2005) 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49
  5. Molecular chaperone function of Mia40 triggers consecutive induced folding steps of the substrate in mitochondrial protein import. (PMID: 21059946) Banci L. … Tokatlidis K. (Proc. Natl. Acad. Sci. U.S.A. 2010) 3 4

Products for CHCHD4 Gene

Sources for CHCHD4 Gene

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