CHCHD4 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | CHCHD4 |
| Official Name | coiled-coil-helix-coiled-coil-helix domain containing 4 [Source:HGNC Symbol;Acc:HGNC:26467] |
| Ensembl ID | ENSG00000163528 |
| Bio databases IDs | |
| Aliases | coiled-coil-helix-coiled-coil-helix domain containing 4, translocase of inner mitochondrial membrane 40 homolog (S. cerevisiae), mitochondrial intermembrane space import and assembly 40 homolog (S. cerevisiae) |
| Synonyms | 2410012P20Rik, 2810014D17RIK, coiled-coil-helix-coiled-coil-helix domain containing 4, MIA40, TIMM40 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CHCHD4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein disulfide oxidoreductase
- CHCH domain
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- diabetes mellitus
role in cell
- expression in
- phosphorylation in
- function in
- response by
- stabilization in
- consumption in
- folding in
- integrity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial intermembrane space
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHCHD4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein import into mitochondrial intermembrane space
- mitochondrial DNA repair
- peptidyl-cysteine oxidation
- protein maturation by protein folding
- 'de novo' posttranslational protein folding
- cellular response to oxidative stress
- mitochondrial respiratory chain complex assembly
- regulation of protein export from nucleus
Cellular Component
Where in the cell the gene product is active
- mitochondrial intermembrane space
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein disulfide oxidoreductase activity