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Aliases for CHCHD4 Gene

Aliases for CHCHD4 Gene

  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 4 2 3 5
  • Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 4 3 4
  • MIA40 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
  • Translocase Of Inner Mitochondrial Membrane 40 Homolog 3
  • TIMM40 3

External Ids for CHCHD4 Gene

Previous GeneCards Identifiers for CHCHD4 Gene

  • GC03M014128

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 Transport to the Golgi and subsequent modification 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

Regulatory Elements for CHCHD4 Gene

Enhancers for CHCHD4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CHCHD4 on UCSC Golden Path with GeneCards custom track

Genomic Location for CHCHD4 Gene

Chromosome:
3
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

Genes around CHCHD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHCHD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHCHD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

No data available for DME Specific Peptides for CHCHD4 Gene

Domains & Families for CHCHD4 Gene

Protein Domains for CHCHD4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHCHD4 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N4Q1

UniProtKB/Swiss-Prot:

MIA40_HUMAN :
  • The CHCH domain contains a conserved twin Cys-X(9)-Cys motif which is required for import and stability of MIA40 in mitochondria.
Domain:
  • The CHCH domain contains a conserved twin Cys-X(9)-Cys motif which is required for import and stability of MIA40 in mitochondria.
  • Contains 1 CHCH domain.
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.

Phenotypes for CHCHD4 Gene

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

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
genes like me logo Genes that share ontologies with CHCHD4: view

Pathways & Interactions 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:0044267 cellular protein metabolic process TAS --
GO:0051084 de novo posttranslational protein folding IMP 21059946
genes like me logo Genes that share ontologies with CHCHD4: view

No data available for SIGNOR curated interactions for CHCHD4 Gene

Drugs & Compounds for CHCHD4 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for CHCHD4 Gene

This gene is overexpressed in Adrenal (24.0) and Pancreas (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CHCHD4: view

Protein tissue co-expression partners for CHCHD4 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for CHCHD4 Gene

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
cow
(Bos Taurus)
Mammalia CHCHD4 35
  • 83.94 (n)
  • 85.4 (a)
CHCHD4 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHCHD4 35
  • 90 (n)
  • 92.14 (a)
CHCHD4 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chchd4 35
  • 83.69 (n)
  • 86.33 (a)
Chchd4 16
AU015836 36
  • 35 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHCHD4 35
  • 99.53 (n)
  • 99.3 (a)
CHCHD4 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chchd4 35
  • 86.33 (n)
  • 87.05 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 77 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia CHCHD4 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHCHD4 35
  • 76.09 (n)
  • 84.06 (a)
CHCHD4 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHCHD4 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chchd4 35
  • 75.54 (n)
  • 82.01 (a)
MGC76323 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.29530 35
zebrafish
(Danio rerio)
Actinopterygii chchd4 35
  • 77.57 (n)
  • 86.92 (a)
chchd4 36
  • 66 (a)
OneToMany
CHCHD4 (2 of 2) 36
  • 44 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6483 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002940 35
  • 62.75 (n)
  • 61.76 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7950 35
  • 61 (n)
  • 60 (a)
CG7950 36
  • 40 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MIA40 36
  • 13 (a)
OneToOne
MIA40 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10518 36
  • 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
rs1133118 -- 14,112,277(+) CCTTT(A/C/G/T)TAAGT utr-variant-3-prime
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
rs2607762 -- 14,118,755(+) CCTTG(A/G)TTCTA 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

Variation tolerance for CHCHD4 Gene

Residual Variation Intolerance Score: 44.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.80; 16.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHCHD4 Gene

HapMap Linkage Disequilibrium report
CHCHD4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHCHD4 Gene

Disorders for CHCHD4 Gene

Relevant External Links for CHCHD4

Genetic Association Database (GAD)
CHCHD4
Human Genome Epidemiology (HuGE) Navigator
CHCHD4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHCHD4

No disorders were found for CHCHD4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CHCHD4 Gene

Publications for CHCHD4 Gene

  1. Disulfide bond formation: sulfhydryl oxidase ALR controls mitochondrial biogenesis of human MIA40. (PMID: 23186364) Sztolsztener M.E. … Chacinska A. (Traffic 2013) 3 4 67
  2. Human CHCHD4 mitochondrial proteins regulate cellular oxygen consumption rate and metabolism and provide a critical role in hypoxia signaling and tumor progression. (PMID: 22214851) Yang J. … Ashcroft M. (J. Clin. Invest. 2012) 2 3
  3. Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis. (PMID: 26004228) Hangen E. … Modjtahedi N. (Mol. Cell 2015) 3
  4. Mia40 is a facile oxidant of unfolded reduced proteins but shows minimal isomerase activity. (PMID: 26014136) Hudson D.A. … Thorpe C. (Arch. Biochem. Biophys. 2015) 3
  5. Human mitochondrial MIA40 (CHCHD4) is a component of the Fe-S cluster export machinery. (PMID: 26275620) Murari A. … Sepuri N.B. (Biochem. J. 2015) 3

Products for CHCHD4 Gene

Sources for CHCHD4 Gene

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