COA6 - cytochrome c oxidase assembly factor 6 Gene
Also Known as C1orf31; CEMCOX4; MC4DN13
Species: Homo sapiens
About COA6
This gene has 4 transcripts (splice variants), 190 orthologues and is associated with 2 phenotypes. Ubiquitous expression in duodenum (RPKM 9.1), colon (RPKM 8.2) and 25 other tissues.
Summary
This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
COA6 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001012985.2 | NP_001013003.1 | cytochrome c oxidase assembly factor 6 homolog isoform 1 |
| NM_001206641.3 | NP_001193570.2 | cytochrome c oxidase assembly factor 6 homolog isoform 2 |
| NM_001301733.1 | NP_001288662.1 | cytochrome c oxidase assembly factor 6 homolog isoform 3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables copper ion binding |
IDA
IDA: Inferred from direct assay
|
26160915 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25959673 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in mitochondrial ATP synthesis coupled electron transport |
IMP
IMP: Inferred from mutant phenotype
|
24549041 | GOA |
| involved in plasma membrane ATP synthesis coupled electron transport |
IMP
IMP: Inferred from mutant phenotype
|
26160915 | GOA |
| involved in respiratory chain complex IV assembly |
IDA
IDA: Inferred from direct assay
|
25959673 | GOA |
| involved in respiratory chain complex IV assembly |
IMP
IMP: Inferred from mutant phenotype
|
24549041 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrial intermembrane space |
IDA
IDA: Inferred from direct assay
|
25339201 | GOA |
COA6 Protein Structure
COX6B: Cytochrome oxidase c subunit VIb (49 - 107)
- 0
- 100
- 125 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cytochrome c oxidase assembly factor 6 homolog |
|
COA6 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
COA6 | Q5JTJ3 | CABP2 | Homo sapiens | Q9NPB3 | 32296183 | |
|
Intra
|
COA6 | Q5JTJ3 | DTX2 | Homo sapiens | Q86UW9 | 32296183 | |
|
Intra
|
COA6 | Q5JTJ3 | TTC19 | Homo sapiens | Q6DKK2 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
|
| Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Crouzon Syndrome With Acanthosis Nigricans |
|
|
| Lactic Acidosis |
|
|
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Leigh Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | COA6 | VGNC | VGNC:71200 |
| Mus musculus | COA6 | MGD | MGI:1915142 |
| Canis familiaris | COA6 | VGNC | VGNC:39444 |
| Rattus norvegicus | COA6 | RGD | RGD:7559315 |
| Others | COA6 | NCBI |