COX3
entrez
4514
canonical
uniprot
P00414
canonical
ensembl
ENSG00000198938
resolver
ensp
ENSP00000354982
resolver
enst
ENST00000362079
resolver
genesymbol
COX3
resolver
genesymbol
MT-CO3
resolver
genesymbol_syn
CO3
resolver
genesymbol_syn
COIII
resolver
genesymbol_syn
COXIII
resolver
genesymbol_syn
MTCO3
resolver
hgnc
HGNC:7422
resolver
uniprot
A0A1X7RBF0
resolver
uniprot
Q14Y83
resolver
uniprot
Q7GIM7
resolver
uniprot_entry
COX3_HUMAN
resolver
uniprot_entry
Q7GIM7_HUMAN
resolver
uniprot_sec
A0A1X7RBF0
resolver
uniprot_sec
Q14Y83
resolver
amino_acid_sequence
MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWWRDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHWPPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFTLLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHHFGFEAAAWYWHFVDVVWLFLYVSIYWWGS
uniprot
proteins
disease_involvement
DISEASE: Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. {ECO:0000269|PubMed:8240356}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and intellectual disability. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome. {ECO:0000269|PubMed:8630495}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Recurrent myoglobinuria mitochondrial (RM-MT) [MIM:550500]: Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis (necrosis or disintegration of skeletal muscle) associated with muscle pain and weakness, and followed by excretion of myoglobin in the urine. {ECO:0000269|PubMed:8630495}. Note=The gene represented in this entry may be involved in disease pathogenesis.
uniprot
proteins
ec_number
7.1.1.9
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:P00420}.
uniprot
proteins
mass_dalton
29951
uniprot
proteins
protein_family
Cytochrome c oxidase subunit 3 family
uniprot
proteins
pubmed
16776823
uniprot
proteins
pubmed
1757091
uniprot
proteins
pubmed
18587274
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28844695
uniprot
proteins
pubmed
30030519
uniprot
proteins
pubmed
7219534
uniprot
proteins
pubmed
7496173
uniprot
proteins
pubmed
8240356
uniprot
proteins
pubmed
8630495
uniprot
proteins
pubmed
9461455
uniprot
proteins
sequence_length
261
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:30030519}; Multi-pass membrane protein {ECO:0000269|PubMed:30030519}.
uniprot
proteins
transmembrane_region
TRANSMEM 16..34; /note="Helical; Name=I"; /evidence="ECO:0000250|UniProtKB:P00415"; TRANSMEM 41..66; /note="Helical; Name=II"; /evidence="ECO:0000250|UniProtKB:P00415"; TRANSMEM 73..105; /note="Helical; Name=III"; /evidence="ECO:0000250|UniProtKB:P00415"; TRANSMEM 129..152; /note="Helical; Name=IV"; /evidence="ECO:0000250|UniProtKB:P00415"; TRANSMEM 156..183; /note="Helical; Name=V"; /evidence="ECO:0000250|UniProtKB:P00415"; TRANSMEM 191..223; /note="Helical; Name=VI"; /evidence="ECO:0000250|UniProtKB:P00415"; TRANSMEM 233..256; /note="Helical; Name=VII"; /evidence="ECO:0000250|UniProtKB:P00415
uniprot
proteins