COX4I2
entrez
84701
canonical
uniprot
Q96KJ9
canonical
ensembl
ENSG00000131055
resolver
ensp
ENSP00000365243
resolver
ensp
ENSP00000618212
resolver
enst
ENST00000376075
resolver
genesymbol
COX4I2
resolver
genesymbol_syn
COX4L2
resolver
hgnc
HGNC:16232
resolver
uniprot
H6SG14
resolver
uniprot
Q6GTF4
resolver
uniprot
Q9H0Z4
resolver
uniprot_entry
COX42_HUMAN
resolver
uniprot_entry
H6SG14_HUMAN
resolver
uniprot_sec
Q6GTF4
resolver
uniprot_sec
Q9H0Z4
resolver
amino_acid_sequence
MLPRAAWSLVLRKGGGGRRGMHSSEGTTRGGGKMSPYTNCYAQRYYPMPEEPFCTELNAEEQALKEKEKGSWTQLTHAEKVALYRLQFNETFAEMNRRSNEWKTVMGCVFFFIGFAALVIWWQRVYVFPPKPITLTDERKAQQLQRMLDMKVNPVQGLASRWDYEKKQWKK
uniprot
proteins
disease_involvement
DISEASE: Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714]: Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth. {ECO:0000269|PubMed:19268275}. Note=The disease is 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:P00424}.
uniprot
proteins
mass_dalton
20010
uniprot
proteins
pathway_participation
PATHWAY: Energy metabolism; oxidative phosphorylation. {ECO:0000250|UniProtKB:P00424}.
uniprot
proteins
protein_family
Cytochrome c oxidase IV family
uniprot
proteins
pubmed
11311561
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19268275
uniprot
proteins
sequence_length
171
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P00423}; Single-pass membrane protein {ECO:0000250|UniProtKB:P00423}.
uniprot
proteins
transmembrane_region
TRANSMEM 101..126; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P00423
uniprot
proteins