COX5A
entrez
9377
canonical
uniprot
P20674
canonical
ensembl
ENSG00000178741
resolver
ensp
ENSP00000317780
resolver
ensp
ENSP00000456386
resolver
ensp
ENSP00000543855
resolver
enst
ENST00000322347
resolver
enst
ENST00000564811
resolver
enst
ENST00000873796
resolver
genesymbol
COX5A
resolver
hgnc
HGNC:2267
resolver
uniprot
P30045
resolver
uniprot
Q8TB65
resolver
uniprot_entry
COX5A_HUMAN
resolver
uniprot_sec
P30045
resolver
uniprot_sec
Q8TB65
resolver
amino_acid_sequence
MLGAALRRCAVAATTRADPRGLLHSARTPGPAVAIQSVRCYSHGSQETDEEFDARWVTYFNKPDIDAWELRKGINTLVTYDMVPEPKIIDAALRACRRLNDFASTVRILEVVKDKAGPHKEIYPYVIQELRPTLNELGISTPEELGLDKV
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 20 (MC4DN20) [MIM:619064]: An autosomal recessive mitochondrial disorder with onset in early infancy. MC4DN20 is characterized by pulmonary arterial hypertension, poor feeding, failure to thrive, hypotonia, delayed development, increased serum lactate and metabolic acidosis. Death in infancy occurs due to cardiorespiratory failure. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:28247525}. 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:P00427}.
uniprot
proteins
mass_dalton
16762
uniprot
proteins
pathway_participation
PATHWAY: Energy metabolism; oxidative phosphorylation. {ECO:0000250|UniProtKB:P00427}.
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 subunit 5A family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
18197981
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26759378
uniprot
proteins
pubmed
28247525
uniprot
proteins
pubmed
2853101
uniprot
proteins
pubmed
28844695
uniprot
proteins
pubmed
30030519
uniprot
proteins
pubmed
31536960
uniprot
proteins
pubmed
38297121
uniprot
proteins
pubmed
7498159
uniprot
proteins
pubmed
8313870
uniprot
proteins
sequence_length
150
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:30030519}; Peripheral membrane protein {ECO:0000269|PubMed:30030519}; Matrix side {ECO:0000269|PubMed:30030519}.
uniprot
proteins