COX11
entrez
1353
canonical
uniprot
Q9Y6N1
canonical
ensembl
ENSG00000166260
resolver
ensp
ENSP00000299335
resolver
ensp
ENSP00000459302
resolver
ensp
ENSP00000459901
resolver
ensp
ENSP00000460043
resolver
ensp
ENSP00000748356
resolver
ensp
ENSP00000760321
resolver
enst
ENST00000571584
resolver
genesymbol
COX11
resolver
hgnc
HGNC:2261
resolver
uniprot
B4DEY8
resolver
uniprot
B4DI26
resolver
uniprot
D3DTY5
resolver
uniprot
I3L220
resolver
uniprot
I3L2Z0
resolver
uniprot
Q6FHB7
resolver
uniprot
Q9BRX0
resolver
uniprot
Q9UME8
resolver
uniprot_entry
B4DEY8_HUMAN
resolver
uniprot_entry
B4DI26_HUMAN
resolver
uniprot_entry
COX11_HUMAN
resolver
uniprot_entry
I3L2Z0_HUMAN
resolver
uniprot_sec
D3DTY5
resolver
uniprot_sec
I3L220
resolver
uniprot_sec
Q6FHB7
resolver
uniprot_sec
Q9BRX0
resolver
uniprot_sec
Q9UME8
resolver
amino_acid_sequence
MGGLWRPGWRCVPFCGWRWIHPGSPTRAAERVEPFLRPEWSGTGGAERGLRWLGTWKRCSLRARHPALQPPRRPKSSNPFTRAQEEERRRQNKTTLTYVAAVAVGMLGASYAAVPLYRLYCQTTGLGGSAVAGHASDKIENMVPVKDRIIKISFNADVHASLQWNFRPQQTEIYVVPGETALAFYRAKNPTDKPVIGISTYNIVPFEAGQYFNKIQCFCFEEQRLNPQEEVDMPVFFYIDPEFAEDPRMIKVDLITLSYTFFEAKEGHKLPVPGYN
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 23 (MC4DN23) [MIM:620275]: A primary mitochondrial disease, a clinically heterogeneous group of disorders arising from dysfunction of the mitochondrial respiratory chain. MC4DN23 is an autosomal recessive form characterized by infantile-onset encephalopathy. Clinical features include brain atrophy, severe developmental delay, seizures, and dyskinetic movement abnormalities. {ECO:0000269|PubMed:36030551, ECO:0000269|PubMed:38068960}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Assembly factor for cytochrome c oxidase (respiratory chain complex IV, CIV) (PubMed:35750769). Probably acts as a metallochaperone that delivers copper to the copper B site of COX1 (PubMed:35750769). {ECO:0000269|PubMed:35750769}.
uniprot
proteins
mass_dalton
31430
uniprot
proteins
protein_family
COX11/CtaG family
uniprot
proteins
pubmed
15229189
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15840172
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
34400285
uniprot
proteins
pubmed
35750769
uniprot
proteins
pubmed
36030551
uniprot
proteins
pubmed
38068960
uniprot
proteins
pubmed
9110174
uniprot
proteins
pubmed
9878253
uniprot
proteins
sequence_length
276
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:15229189, ECO:0000269|PubMed:9878253, ECO:0000305|PubMed:35750769}; Single-pass membrane protein {ECO:0000269|PubMed:9878253}; Intermembrane side {ECO:0000269|PubMed:9878253}.
uniprot
proteins
transmembrane_region
TRANSMEM 98..120; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins