COX4I1
entrez
1327
canonical
uniprot
P13073
canonical
ensembl
ENSG00000131143
resolver
ensp
ENSP00000253452
resolver
ensp
ENSP00000455030
resolver
ensp
ENSP00000455301
resolver
ensp
ENSP00000456452
resolver
ensp
ENSP00000457015
resolver
ensp
ENSP00000457513
resolver
ensp
ENSP00000576795
resolver
ensp
ENSP00000576796
resolver
ensp
ENSP00000576797
resolver
ensp
ENSP00000576798
resolver
ensp
ENSP00000594905
resolver
ensp
ENSP00000594906
resolver
ensp
ENSP00000594908
resolver
ensp
ENSP00000594911
resolver
ensp
ENSP00000594912
resolver
ensp
ENSP00000638353
resolver
ensp
ENSP00000638354
resolver
ensp
ENSP00000769992
resolver
enst
ENST00000253452
resolver
enst
ENST00000561569
resolver
enst
ENST00000562336
resolver
enst
ENST00000564544
resolver
enst
ENST00000568794
resolver
enst
ENST00000906736
resolver
enst
ENST00000906737
resolver
enst
ENST00000906738
resolver
enst
ENST00000906739
resolver
enst
ENST00000924846
resolver
enst
ENST00000924847
resolver
enst
ENST00000924849
resolver
enst
ENST00000924852
resolver
enst
ENST00000924853
resolver
enst
ENST00000968294
resolver
enst
ENST00000968295
resolver
genesymbol
COX4I1
resolver
genesymbol_syn
COX4
resolver
hgnc
HGNC:2265
resolver
uniprot
B2R4J2
resolver
uniprot
D3DUM7
resolver
uniprot
H3BNV9
resolver
uniprot
H3BRX9
resolver
uniprot
Q6P666
resolver
uniprot
Q86WV2
resolver
uniprot_entry
COX41_HUMAN
resolver
uniprot_entry
H3BNV9_HUMAN
resolver
uniprot_entry
H3BRX9_HUMAN
resolver
uniprot_entry
Q86WV2_HUMAN
resolver
uniprot_sec
B2R4J2
resolver
uniprot_sec
D3DUM7
resolver
uniprot_sec
Q6P666
resolver
amino_acid_sequence
MLATRVFSLVGKRAISTSVCVRAHESVVKSEDFSLPAYMDRRDHPLPEVAHVKHLSASQKALKEKEKASWSSLSMDEKVELYRIKFKESFAEMNRGSNEWKTVVGGAMFFIGFTALVIMWQKHYVYGPLPQSFDKEWVAKQTKRMLDMKVNPIQGLASKWDYEKNEWKK
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 16 (MC4DN16) [MIM:619060]: An autosomal recessive mitochondrial disorder with onset in infancy and variable manifestations. MC4DN16 features include feeding difficulties, poor overall growth, short stature, microcephaly, developmental regression, severe hypotonia, and seizures. Cerebral and cerebellar atrophy, and abnormal lesions in the basal ganglia can be observed on brain imaging. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:28766551, ECO:0000269|PubMed:31290619}. 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
19577
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
10337626
uniprot
proteins
pubmed
1311608
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2157630
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2444497
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26759378
uniprot
proteins
pubmed
28766551
uniprot
proteins
pubmed
28844695
uniprot
proteins
pubmed
30030519
uniprot
proteins
pubmed
31290619
uniprot
proteins
sequence_length
169
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 99..124; /note="Helical"; /evidence="ECO:0000250|UniProtKB:P00423
uniprot
proteins