CHCHD6 Gene Summary [Human]
Involved in cellular response to DNA damage stimulus and cristae formation. Located in cytosol and mitochondrial inner membrane. Part of MICOS complex. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Protein Coding |
| Official Symbol | CHCHD6 |
| Official Name | coiled-coil-helix-coiled-coil-helix domain containing 6 [Source:HGNC Symbol;Acc:HGNC:28184] |
| Ensembl ID | ENSG00000159685 |
| Bio databases IDs | |
| Aliases | coiled-coil-helix-coiled-coil-helix domain containing 6, protein phosphatase 1, regulatory subunit 23, coiled-coil-helix cristae morphology 1, mitochondrial contact site and cristae organizing system subunit 25 |
| Synonyms | 0710001P09RIK, 1700021B03Rik, CHCM1, CHCM1/CHCHD6, coiled-coil-helix-coiled-coil-helix domain containing 6, Mic25, MICOS25, PPP1R23 |
| 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 CHCHD6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- MICOS complex subunit MIC19/MIC25
- CHCH domain
- 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
- lung squamous cell carcinoma
- squamous cell lung cancer
- diabetic maculopathy
- acute myeloid leukemia
regulates
- oxygen
- adenosine triphosphate
- IMMT
role in cell
- expression in
- production in
- formation
- cell viability
- growth
- morphology
- DNA damage response
- consumption in
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
- cytosol
- mitochondrial matrix
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHCHD6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cristae formation
- inner mitochondrial membrane organization
- response to DNA damage stimulus
Cellular Component
Where in the cell the gene product is active
- mitochondrial crista junction
- mitochondrion
- cytosol
- mitochondrial sorting and assembly machinery complex
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- protein binding