COA1
Cytochrome c Oxidase Assembly Factor 1
Gene Information Card
| Symbol | COA1 |
|---|---|
| Full Name | Cytochrome c Oxidase Assembly Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q21.3 |
| NCBI Gene ID | 55744 ncbi.nlm.nih.gov/gene/55744 |
| Ensembl ID | ENSG00000106603 |
| UniProt ID | Q9GZY4 |
| OMIM ID | 614776 |
| HGNC ID | 25198 |
| Aliases | COX11, C7orf44, HSPC009, MITRAC15 |
Description
COA1 encodes a mitochondrial inner membrane protein that functions as an assembly factor for cytochrome c oxidase (complex IV) of the mitochondrial respiratory chain. It is involved in the early steps of COX assembly, specifically in the maturation of the COX1 subunit and the formation of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase) complex.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency, nuclear type 19 | Loss of COA1 function impairs COX assembly, leading to respiratory chain deficiency | OMIM #619053 |
| Leigh syndrome | COA1 mutations cause mitochondrial dysfunction and neurodegeneration | ClinVar, PMID: 29727693 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Liver | 6.8 | Low |
| Brain | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 11.7 | Medium expression |
| K562 | 8.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.178C>T (p.Arg60Trp) | Missense | Rare | Impaired COX assembly and mitochondrial respiration |
| c.436G>A (p.Gly146Arg) | Missense | Rare | Reduced COA1 stability and complex IV activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg60Trp, p.Gly146Arg) reduce COA1 protein stability and impair COX assembly, leading to complex IV deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial inner membrane | • Cytochrome-c oxidase activity |
| • Mitochondrial respiratory chain complex IV assembly | • Protein-containing complex assembly |
Pathways
• Mitochondrial complex IV assembly
• Respiratory electron transport chain
Protein Summary
COA1 is a 15 kDa mitochondrial inner membrane protein that acts as a chaperone for COX1, facilitating its insertion into the mitochondrial membrane and subsequent assembly of cytochrome c oxidase. It is part of the MITRAC complex, which coordinates translation and assembly of COX1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COA1 Knockout HEK293 Cell Line | EDJ-KQ11937 | Human | 55744 | Details Get a Quote |
| COA1 Knockout A-549 Cell Line | EDJ-KQ40447 | Human | 55744 | Details Get a Quote |
| COA1 Knockout HCT 116 Cell Line | EDJ-KQ40448 | Human | 55744 | Details Get a Quote |
| COA1 Knockout HeLa Cell Line | EDJ-KQ40449 | Human | 55744 | Details Get a Quote |
