CHCHD3 Gene Summary [Human]
The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption. This protein is part of the mitochondrial contact site and cristae organizing system (MICOS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Details
| Type | Protein Coding |
| Official Symbol | CHCHD3 |
| Official Name | coiled-coil-helix-coiled-coil-helix domain containing 3 [Source:HGNC Symbol;Acc:HGNC:21906] |
| Ensembl ID | ENSG00000106554 |
| Bio databases IDs | |
| Aliases | coiled-coil-helix-coiled-coil-helix domain containing 3, mitochondrial inner membrane organizing system 3, protein phosphatase 1, regulatory subunit 22, mitochondrial contact site and cristae organizing system subunit 19 |
| Synonyms | 0610041L09RIK, 1700039J09Rik, CHCH3, coiled-coil-helix-coiled-coil-helix domain containing 3, Mic19, MICOS19, MINOS3, PPP1R22 |
| 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 CHCHD3 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
- transcription regulator
- CHCH domain
- protein binding
- phosphatase binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insomnia
- hepatic steatosis
- hepatic fibrosis
role in cell
- expression in
- formation
- number
- fusion
- homologous recombination in
- disorganization
- organization
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
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- Mitochondria
- mitochondrial inner membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CHCHD3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cristae formation
- mitochondrial fusion
- inner mitochondrial membrane organization
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular vesicular exosome
- mitochondrial crista junction
- mitochondrion
- mitochondrial sorting and assembly machinery complex
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- phosphatase binding
- protein binding
- binding, bridging