COXFA4
entrez
4697
canonical
uniprot
O00483
canonical
ensembl
ENSG00000189043
resolver
ensp
ENSP00000339720
resolver
ensp
ENSP00000525733
resolver
ensp
ENSP00000593151
resolver
enst
ENST00000339600
resolver
enst
ENST00000855674
resolver
enst
ENST00000923092
resolver
genesymbol
COXFA4
resolver
genesymbol_syn
NDUFA4
resolver
hgnc
HGNC:7687
resolver
uniprot
A4D109
resolver
uniprot
Q6FHN5
resolver
uniprot_entry
CXFA4_HUMAN
resolver
uniprot_sec
A4D109
resolver
uniprot_sec
Q6FHN5
resolver
amino_acid_sequence
MLRQIIGQAKKHPSLIPLFVFIGTGATGATLYLLRLALFNPDVCWDRNNPEPWNKLGPNDQYKFYSVNVDYSKLKKERPDF
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 21 (MC4DN21) [MIM:619065]: An autosomal recessive mitochondrial disorder with onset in infancy. MC4DN21 is characterized by congenital lactic acidosis, encephalopathy, global developmental delay, delayed speech, motor dysfunction, dystonia, and spasticity. Ataxia, peripheral neuropathy, and seizures may also occur. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:23746447}. 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 unsing 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix (PubMed:22902835). COXFA4 is required for complex IV maintenance (PubMed:22902835). {ECO:0000269|PubMed:22902835}.
uniprot
proteins
mass_dalton
9370
uniprot
proteins
protein_family
Complex IV COXFA4 subunit family
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22902835
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23746447
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30030519
uniprot
proteins
pubmed
31536960
uniprot
proteins
pubmed
9352085
uniprot
proteins
sequence_length
81
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:23746447, ECO:0000269|PubMed:30030519}; Single-pass membrane protein {ECO:0000269|PubMed:30030519}.
uniprot
proteins
transmembrane_region
TRANSMEM 15..37; /note="Helical"; /evidence="ECO:0000269|PubMed:30030519
uniprot
proteins