CHCHD4 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of CHCHD4 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of CHCHD4 at tissue level.

III. Associated gene sets

GO_1990830Biological processcellular response to leukemia inhibitory factor
GO_0033108Biological processmitochondrial respiratory chain complex assembly
GO_0034599Biological processcellular response to oxidative stress
GO_0018171Biological processpeptidyl-cysteine oxidation
GO_0043504Biological processmitochondrial DNA repair
GO_0046825Biological processregulation of protein export from nucleus
GO_0051084Biological process'de novo' post-translational protein folding
GO_0022417Biological processprotein maturation by protein folding
GO_1901857Biological processpositive regulation of cellular respiration
GO_0045041Biological processprotein import into mitochondrial intermembrane space
GO_0005758Cellular componentmitochondrial intermembrane space
GO_0005739Cellular componentmitochondrion
GO_0015035Molecular functionprotein-disulfide reductase activity
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameCHCHD4
Protein nameMitochondrial intermembrane space import and assembly protein 40 (Coiled-coil-helix-coiled-coil-helix domain-containing protein 4)
SynonymsMIA40
DescriptionFUNCTION: Central component of a redox-sensitive mitochondrial intermembrane space import machinery which is required for the biogenesis of respiratory chain complexes . Functions as chaperone and catalyzes the formation of disulfide bonds in substrate proteins, such as COX17, COX19, MICU1 and COA7 . Required for the import and folding of small cysteine-containing proteins (small Tim) in the mitochondrial intermembrane space (IMS). Required for the import of COA7 in the 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 . Mediates formation of disulfide bond in MICU1 in the IMS, promoting formation of the MICU1-MICU2 heterodimer that regulates mitochondrial calcium uptake . .

AccessionsENST00000295767.9 [Q8N4Q1-2]
ENST00000396914.4 [Q8N4Q1-1]
Q8N4Q1