CHCHD1
Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 1
Gene Information Card
| Symbol | CHCHD1 |
|---|---|
| Full Name | Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.3 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q96BP2 |
| OMIM ID | 617259 |
| HGNC ID | 28737 |
| Aliases | CHCHD, MGC13170 |
Description
CHCHD1 encodes a small mitochondrial protein characterized by a coiled-coil-helix-coiled-coil-helix (CHCH) domain. It is involved in mitochondrial function and oxidative phosphorylation. The gene is located on chromosome 10q22.3 and is conserved across eukaryotes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial respiratory chain disorders | Impaired oxidative phosphorylation due to CHCHD1 deficiency | ClinVar; limited case reports |
| Cancer (various) | Altered mitochondrial metabolism; potential tumor suppressor role | COSMIC; somatic mutations observed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 7.1 | Low |
| Brain | 5.6 | Low |
| Skeletal Muscle | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.0 | Moderate expression |
| HeLa | 8.5 | Moderate expression |
| K562 | 6.2 | Low expression |
| HepG2 | 9.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated protein; likely loss of mitochondrial function
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrion | • Protein-containing complex |
| • Oxidative phosphorylation |
Pathways
• Oxidative phosphorylation
• Mitochondrial biogenesis
Protein Summary
CHCHD1 is a 10.6 kDa mitochondrial protein containing a CHCH domain. It localizes to the mitochondrial intermembrane space and is implicated in the assembly of cytochrome c oxidase (Complex IV). Its exact molecular function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHCHD10 Knockout HEK293 Cell Line | EDJ-KQ11599 | Human | 400916 | Details Get a Quote |
| CHCHD10 Knockout A-549 Cell Line | EDJ-KQ39935 | Human | 400916 | Details Get a Quote |
| CHCHD10 Knockout HCT 116 Cell Line | EDJ-KQ39936 | Human | 400916 | Details Get a Quote |
| CHCHD10 Knockout HeLa Cell Line | EDJ-KQ39937 | Human | 400916 | Details Get a Quote |
| CHCHD1 Knockout HEK293 Cell Line | EDJ-KQ51936 | Human | 118487 | Details Get a Quote |
| CHCHD1 Knockout HeLa Cell Line | EDJ-KQ58027 | Human | 118487 | Details Get a Quote |
| CHCHD1 Knockout A-549 Cell Line | EDJ-KQ66514 | Human | 118487 | Details Get a Quote |
| CHCHD1 Knockout HCT 116 Cell Line | EDJ-KQ74934 | Human | 118487 | Details Get a Quote |
| Chchd10 Knockout 3T3-L1 Cell Line | EDC07541 | Mouse | 103172 | Details Get a Quote |
| Chchd10 Overexpression 3T3-L1 Stable Cell Line | EDC01483 | Mouse | 103172 | Details Get a Quote |
