COA8
entrez
84334
canonical
uniprot
Q96IL0
canonical
ensembl
ENSG00000256053
resolver
ensp
ENSP00000386485
resolver
ensp
ENSP00000451703
resolver
ensp
ENSP00000451874
resolver
enst
ENST00000409074
resolver
enst
ENST00000556253
resolver
genesymbol
COA8
resolver
genesymbol_syn
APOP1
resolver
genesymbol_syn
APOPT1
resolver
genesymbol_syn
C14orf153
resolver
hgnc
HGNC:20492
resolver
uniprot
A0A6Q8JUI0
resolver
uniprot
G3V4L6
resolver
uniprot
H7C2Z1
resolver
uniprot
Q53G28
resolver
uniprot_entry
A0A6Q8JUI0_HUMAN
resolver
uniprot_entry
COA8_HUMAN
resolver
uniprot_entry
G3V4L6_HUMAN
resolver
uniprot_sec
H7C2Z1
resolver
uniprot_sec
Q53G28
resolver
amino_acid_sequence
MLPCAAGARGRGAMVVLRAGKKTFLPPLCRAFACRGCQLAPERGAERRDTAPSGVSRFCPPRKSCHDWIGPPDKYSNLRPVHFYIPENESPLEQKLRKLRQETQEWNQQFWANQNLTFSKEKEEFIHSRLKTKGLGLRTESGQKATLNAEEMADFYKEFLSKNFQKHMYYNRDWYKRNFAITFFMGKVALERIWNKLKQKQKKRSN
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 17 (MC4DN17) [MIM:619061]: An autosomal recessive mitochondrial disorder with highly variable clinical manifestations and severity. Clinical features vary from acute neurometabolic decompensation in late infancy to subtle neurological signs presenting in adolescence. Encephalopathic episodes are characterized by acute loss of developmental milestones including ability to walk or sit, loss of speech, episodes with somnolence and seizure, and pyramidal signs rapidly evolving into spastic tetraparesis. The clinical course subsequently tends to stabilize and in several subjects marked recovery of neurological milestones is observed over time. Brain imaging shows a cavitating leukodystrophy, predominantly involving the posterior cerebral white matter and the corpus callosum in the acute stage, after which the abnormalities partially improve and then stabilize. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:25175347, ECO:0000269|PubMed:29577824, ECO:0000269|PubMed:30552096}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for cytochrome c complex (COX) IV assembly and function Protects COX assembly from oxidation-induced degradation, COX being the terminal component of the mitochondrial respiratory chain. {ECO:0000269|PubMed:25175347, ECO:0000269|PubMed:30552096}.
uniprot
proteins
mass_dalton
24153
uniprot
proteins
post_translational_modification
PTM: N-terminal mitochondrial targeting sequence is cleaved from the mature protein once in the mitochondrion. {ECO:0000269|PubMed:25175347, ECO:0000269|PubMed:30552096}.; PTM: In normal conditions, the cytoplasmic precursor protein is rapidly degraded by the ubiquitination-proteasome system (UPS). Oxidative stress induces protein stabilization and import into mitochondria where it protects COX from degradation. {ECO:0000269|PubMed:25175347, ECO:0000269|PubMed:30552096}.
uniprot
proteins
protein_family
COA8 family
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16712791
uniprot
proteins
pubmed
25175347
uniprot
proteins
pubmed
29577824
uniprot
proteins
pubmed
30552096
uniprot
proteins
sequence_length
206
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:25175347, ECO:0000269|PubMed:30552096}; Peripheral membrane protein {ECO:0000305|PubMed:30552096}; Matrix side {ECO:0000269|PubMed:30552096}.
uniprot
proteins