COX8A
entrez
1351
canonical
uniprot
P10176
canonical
ensembl
ENSG00000176340
resolver
ensp
ENSP00000321260
resolver
enst
ENST00000314133
resolver
genesymbol
COX8A
resolver
genesymbol_syn
COX8
resolver
genesymbol_syn
COX8L
resolver
hgnc
HGNC:2294
resolver
uniprot
P15955
resolver
uniprot
Q53XN1
resolver
uniprot_entry
COX8A_HUMAN
resolver
uniprot_entry
Q53XN1_HUMAN
resolver
uniprot_sec
P15955
resolver
amino_acid_sequence
MSVLTPLLLRGLTGSARRLPVPRAKIHSLPPEGKLGIMELAVGLTSCFVTFLLPAGWILSHLETYRRPE
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 15 (MC4DN15) [MIM:619059]: An autosomal recessive mitochondrial disorder with onset in infancy. MC4DN15 is characterized by global developmental delay, poor feeding, metabolic acidosis, short stature, microcephaly, proximal muscle weakness, and distal spasticity. Additional manifestations include scoliosis, primary pulmonary hypertension, refractory seizures, and inability to walk. Serum and CSF lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:26685157}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix. {ECO:0000250|UniProtKB:P10175}.
uniprot
proteins
mass_dalton
7579
uniprot
proteins
pathway_participation
PATHWAY: Energy metabolism; oxidative phosphorylation. {ECO:0000250|UniProtKB:P10175}.
uniprot
proteins
post_translational_modification
PTM: In response to mitochondrial stress, the precursor protein is ubiquitinated by the SIFI complex in the cytoplasm before mitochondrial import, leading to its degradation (PubMed:38297121). Within the SIFI complex, UBR4 initiates ubiquitin chain that are further elongated or branched by KCMF1 (PubMed:38297121). {ECO:0000269|PubMed:38297121}.
uniprot
proteins
protein_family
Cytochrome c oxidase VIII family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
2543673
uniprot
proteins
pubmed
26685157
uniprot
proteins
pubmed
2847943
uniprot
proteins
pubmed
28844695
uniprot
proteins
pubmed
30030519
uniprot
proteins
pubmed
38297121
uniprot
proteins
sequence_length
69
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:30030519}; Single-pass membrane protein {ECO:0000269|PubMed:30030519}.
uniprot
proteins
transmembrane_region
TRANSMEM 37..60; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P10175
uniprot
proteins