COX16
entrez
51241
canonical
uniprot
Q9P0S2
canonical
ensembl
ENSG00000133983
resolver
ensp
ENSP00000374562
resolver
ensp
ENSP00000751471
resolver
enst
ENST00000389912
resolver
genesymbol
COX16
resolver
genesymbol_syn
C14orf112
resolver
hgnc
HGNC:20213
resolver
uniprot
A6NDT5
resolver
uniprot
A8K3X8
resolver
uniprot
B8XYC5
resolver
uniprot_entry
COX16_HUMAN
resolver
uniprot_sec
A6NDT5
resolver
uniprot_sec
A8K3X8
resolver
uniprot_sec
B8XYC5
resolver
amino_acid_sequence
MFAPAVMRAFRKNKTLGYGVPMLLLIVGGSFGLREFSQIRYDAVKSKMDPELEKKLKENKISLESEYEKIKDSKFDDWKNIRGPRPWEDPDLLQGRNPESLKTKTT
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 22 (MC4DN22) [MIM:619355]: An autosomal recessive mitochondrial disorder characterized by hypertrophic cardiomyopathy, encephalopathy, fatal lactic acidosis, and isolated complex IV deficiency. {ECO:0000269|PubMed:33169484}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase (PubMed:29355485, PubMed:29381136, PubMed:33169484). Promotes the insertion of copper into the active site of cytochrome c oxidase subunit II (MT-CO2/COX2) (PubMed:29355485, PubMed:29381136). Interacts specifically with newly synthesized MT-CO2/COX and its copper center-forming metallochaperones SCO1, SCO2 and COA6 (PubMed:29381136). Probably facilitates MT-CO2/COX2 association with the MITRAC assembly intermediate containing MT-CO1/COX1, thereby participating in merging the MT-CO1/COX1 and MT-CO2/COX2 assembly lines (PubMed:29381136). {ECO:0000269|PubMed:29355485, ECO:0000269|PubMed:29381136, ECO:0000269|PubMed:33169484}.
uniprot
proteins
mass_dalton
12293
uniprot
proteins
protein_family
COX16 family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
12446688
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15596615
uniprot
proteins
pubmed
29355485
uniprot
proteins
pubmed
29381136
uniprot
proteins
pubmed
33169484
uniprot
proteins
sequence_length
106
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:29355485, ECO:0000269|PubMed:29381136}; Single-pass membrane protein {ECO:0000305|PubMed:29381136}.
uniprot
proteins
transmembrane_region
TRANSMEM 15..37; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins