COX6B1
entrez
1340
canonical
uniprot
P14854
canonical
ensembl
ENSG00000126267
resolver
ensp
ENSP00000376037
resolver
ensp
ENSP00000466818
resolver
ensp
ENSP00000497926
resolver
ensp
ENSP00000528060
resolver
ensp
ENSP00000528061
resolver
ensp
ENSP00000608427
resolver
ensp
ENSP00000608428
resolver
ensp
ENSP00000608429
resolver
ensp
ENSP00000608431
resolver
ensp
ENSP00000608432
resolver
enst
ENST00000392201
resolver
enst
ENST00000592141
resolver
enst
ENST00000649813
resolver
enst
ENST00000858001
resolver
enst
ENST00000858002
resolver
enst
ENST00000938368
resolver
enst
ENST00000938369
resolver
enst
ENST00000938370
resolver
enst
ENST00000938372
resolver
enst
ENST00000938373
resolver
genesymbol
COX6B1
resolver
genesymbol_syn
COX6B
resolver
hgnc
HGNC:2280
resolver
uniprot
B2R5C9
resolver
uniprot
Q6IBL4
resolver
uniprot_entry
CX6B1_HUMAN
resolver
uniprot_sec
B2R5C9
resolver
uniprot_sec
Q6IBL4
resolver
amino_acid_sequence
MAEDMETKIKNYKTAPFDSRFPNQNQTRNCWQNYLDFHRCQKAMTAKGGDISVCEWYQRVYQSLCPTSWVTDWDEQRAEGTFPGKI
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 7 (MC4DN7) [MIM:619051]: An autosomal recessive mitochondrial disorder characterized by encephalomyopathy resulting in variable clinical manifestations. Features include muscle weakness, gait disturbances, neurodegeneration, cognitive decline, metabolic acidosis, feeding difficulties, poor overall growth, cortical visual impairment, and hypertrophic cardiomyopathy. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:18499082, ECO:0000269|PubMed:24781756}. 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:Q01519}.
uniprot
proteins
mass_dalton
10192
uniprot
proteins
pathway_participation
PATHWAY: Energy metabolism; oxidative phosphorylation. {ECO:0000250|UniProtKB:Q01519}.
uniprot
proteins
protein_family
Cytochrome c oxidase subunit 6B family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1647217
uniprot
proteins
pubmed
1651883
uniprot
proteins
pubmed
18499082
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2172092
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24781756
uniprot
proteins
pubmed
2537962
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28844695
uniprot
proteins
pubmed
30030519
uniprot
proteins
sequence_length
86
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:30030519}; Peripheral membrane protein {ECO:0000269|PubMed:30030519}; Intermembrane side {ECO:0000269|PubMed:30030519}.
uniprot
proteins