COX14
entrez
84987
canonical
uniprot
Q96I36
canonical
ensembl
ENSG00000178449
resolver
ensp
ENSP00000326052
resolver
ensp
ENSP00000446524
resolver
ensp
ENSP00000447776
resolver
ensp
ENSP00000450331
resolver
ensp
ENSP00000632576
resolver
ensp
ENSP00000632577
resolver
enst
ENST00000317943
resolver
enst
ENST00000548985
resolver
enst
ENST00000550487
resolver
enst
ENST00000550654
resolver
enst
ENST00000962517
resolver
enst
ENST00000962518
resolver
genesymbol
COX14
resolver
genesymbol_syn
C12orf62
resolver
hgnc
HGNC:28216
resolver
uniprot
B2R5G6
resolver
uniprot_entry
COX14_HUMAN
resolver
uniprot_sec
B2R5G6
resolver
amino_acid_sequence
MPTGKQLADIGYKTFSTSMMLLTVYGGYLCSVRVYHYFQWRRAQRQAAEEQKTSGIM
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 10 (MC4DN10) [MIM:619053]: An autosomal recessive mitochondrial disorder that manifests with neonatal neurological and respiratory distress. Clinical features include facial dysmorphism, hypotelorism, microphthalmia, an ogival palate, and severe metabolic acidosis. Death occurs in early infancy. Autoptic examination reveals brain hypertrophy, diffuse alteration of white matter myelination, numerous cavities in the parieto-occipital region, brainstem and cerebellum, as well as hepatomegaly, hypertrophic cardiomyopathy, renal hypoplasia, and adrenal hyperplasia. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:22243966}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. Requires for coordination of the early steps of cytochrome c oxidase assembly with the synthesis of MT-CO1. {ECO:0000269|PubMed:22243966, ECO:0000269|PubMed:22356826}.
uniprot
proteins
mass_dalton
6600
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
22243966
uniprot
proteins
pubmed
22356826
uniprot
proteins
pubmed
23260140
uniprot
proteins
pubmed
27184847
uniprot
proteins
sequence_length
57
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:22243966, ECO:0000269|PubMed:22356826, ECO:0000269|PubMed:27184847}; Single-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 15..37; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins