COX6A1
entrez
1337
canonical
uniprot
P12074
canonical
ensembl
ENSG00000111775
resolver
ensp
ENSP00000229379
resolver
enst
ENST00000229379
resolver
genesymbol
COX6A1
resolver
genesymbol_syn
COX6AL
resolver
hgnc
HGNC:2277
resolver
uniprot
B2R500
resolver
uniprot
H6SG15
resolver
uniprot
O43714
resolver
uniprot
Q32Q37
resolver
uniprot_entry
CX6A1_HUMAN
resolver
uniprot_entry
H6SG15_HUMAN
resolver
uniprot_sec
B2R500
resolver
uniprot_sec
O43714
resolver
uniprot_sec
Q32Q37
resolver
amino_acid_sequence
MAVVGVSSVSRLLGRSRPQLGRPMSSGAHGEEGSARMWKTLTFFVALPGVAVSMLNVYLKSHHGEHERPEFIAYPHLRIRTKPFPWGDGNHTLFHNPHVNPLPTGYEDE
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, recessive intermediate D (CMTRID) [MIM:616039]: A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Recessive intermediate forms of Charcot-Marie-Tooth disease are characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. {ECO:0000269|PubMed:25152455}. 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 unsing 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix. {ECO:0000250|UniProtKB:P32799}.
uniprot
proteins
mass_dalton
12155
uniprot
proteins
pathway_participation
PATHWAY: Energy metabolism; oxidative phosphorylation. {ECO:0000250|UniProtKB:P32799}.
uniprot
proteins
protein_family
Cytochrome c oxidase subunit 6A family
uniprot
proteins
pubmed
1286669
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
25152455
uniprot
proteins
pubmed
2549515
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28844695
uniprot
proteins
pubmed
30030519
uniprot
proteins
sequence_length
109
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 35..59; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P07471
uniprot
proteins