| Type | Description |
|---|---|
| Definition | cytochrome c oxidase assembly factor 7 (putative) |
| Date | Results | Publications |
|---|---|---|
| 2020-05-02 12:02:00 | pathogenic mutant versions of COA7 are imported slower than the wild-type protein, and mislocalized proteins are degraded in the cytosol by the proteasome. | 30885959 |
| 2019-07-13 11:09:00 | The results of this study suggest that loss-of-function COA7 mutation is responsible for the phenotype of the presented patients, and this new entity of disease would be referred to as spinocerebellar ataxia with axonal neuropathy type 3. | 29718187 |
| 2017-08-26 11:50:00 | The first patient carrying pathogenic mutations of COA7, causative of isolated COX deficiency and progressive neurological impairment is reported. It is also shown that COA7 is a soluble protein localized to the matrix, rather than in the intermembrane space as previously suggested. | 27683825 |
| 2014-06-07 10:05:00 | C1orf163 is a novel factor important for the assembly of respiratory chain complexes in human mitochondria. | 24333015 |
| Type | IDs |
|---|---|
| Synonymous | C1orf163, RESA1, SELRC1 |
| Gene |
UniProtKB-ID:
COA7_HUMAN
UniprotKB:
Q96BR5
UniParc:
UPI0000034E0F
EMBL:
BC015313,
AK022501,
AC099784
Ensembl:
ENSG00000162377
KO:
hsa:65260
|
| Nucleutide sequences |
EMBL-CDS:
BAB14063.1,
AAH15313.1
Ensembl_TRS:
ENST00000371538
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000360593
RefSeq:
NP_075565.2
|
| Others |
UniRef100:
UniRef100_Q96BR5
UniRef90:
UniRef90_Q96BR5
UniRef50:
UniRef50_Q96BR5
UniGene:
Hs.349905
CCDS:
CCDS570.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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