COX10
entrez
1352
canonical
uniprot
Q12887
canonical
ensembl
ENSG00000006695
resolver
ensp
ENSP00000261643
resolver
genesymbol
COX10
resolver
hgnc
HGNC:2260
resolver
uniprot
B2R6U5
resolver
uniprot
B4DJ50
resolver
uniprot
O15334
resolver
uniprot
Q969F7
resolver
uniprot_entry
COX10_HUMAN
resolver
uniprot_sec
B2R6U5
resolver
uniprot_sec
B4DJ50
resolver
uniprot_sec
O15334
resolver
uniprot_sec
Q969F7
resolver
amino_acid_sequence
MAASPHTLSSRLLTGCVGGSVWYLERRTIQDSPHKFLHLLRNVNKQWITFQHFSFLKRMYVTQLNRSHNQQVRPKPEPVASPFLEKTSSGQAKAEIYEMRPLSPPSLSLSRKPNEKELIELEPDSVIEDSIDVGKETKEEKRWKEMKLQVYDLPGILARLSKIKLTALVVSTTAAGFALAPGPFDWPCFLLTSVGTGLASCAANSINQFFEVPFDSNMNRTKNRPLVRGQISPLLAVSFATCCAVPGVAILTLGVNPLTGALGLFNIFLYTCCYTPLKRISIANTWVGAVVGAIPPVMGWTAATGSLDAGAFLLGGILYSWQFPHFNALSWGLREDYSRGGYCMMSVTHPGLCRRVALRHCLALLVLSAAAPVLDITTWTFPIMALPINAYISYLGFRFYVDADRRSSRRLFFCSLWHLPLLLLLMLTCKRPSGGGDAGPPPS
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 3 (MC4DN3) [MIM:619046]: An autosomal recessive mitochondrial disorder characterized by cytochrome c oxidase deficiency. Clinical features include muscle weakness, hypotonia, ataxia, ptosis, metabolic acidosis, poor feeding, delayed motor development, anemia, sensorineural hearing loss, and cardiomyopathy. {ECO:0000269|PubMed:10767350, ECO:0000269|PubMed:12928484, ECO:0000269|PubMed:26741492}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.5.1.141
uniprot
proteins
function
FUNCTION: Converts protoheme IX and farnesyl diphosphate to heme O. {ECO:0000250}.
uniprot
proteins
mass_dalton
48910
uniprot
proteins
protein_family
UbiA prenyltransferase family
uniprot
proteins
pubmed
10767350
uniprot
proteins
pubmed
12928484
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
21248752
uniprot
proteins
pubmed
26741492
uniprot
proteins
pubmed
8078902
uniprot
proteins
pubmed
9177788
uniprot
proteins
sequence_length
443
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion membrane; Multi-pass membrane protein.
uniprot
proteins
transmembrane_region
TRANSMEM 174..194; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 235..255; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 257..277; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 280..300; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 309..329; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 364..384; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 411..431; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins