COA3
entrez
28958
canonical
uniprot
Q9Y2R0
canonical
ensembl
ENSG00000183978
resolver
ensp
ENSP00000354762
resolver
enst
ENST00000328434
resolver
genesymbol
COA3
resolver
genesymbol_syn
CCDC56
resolver
genesymbol_syn
MITRAC12
resolver
hgnc
HGNC:24990
resolver
uniprot
A8K498
resolver
uniprot_entry
COA3_HUMAN
resolver
uniprot_sec
A8K498
resolver
amino_acid_sequence
MASSGAGDPLDSKRGEAPFAQRIDPTREKLTPEQLHSMRQAELAQWQKVLPRRRTRNIVTGLGIGALVLAIYGYTFYSISQERFLDELEDEAKAARARALARASGS
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 14 (MC4DN14) [MIM:619058]: An autosomal recessive mitochondrial disorder with onset in early childhood. MC4DN14 is characterized by developmental delay, cognitive impairment, motor delay, abnormal gait, sensorimotor demyelinating polyneuropathy, exercise intolerance, obesity, and short stature. Serum lactate levels are marginally increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:25604084}. 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. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for efficient translation of MT-CO1 and mitochondrial respiratory chain complex IV assembly. {ECO:0000269|PubMed:23260140}.
uniprot
proteins
mass_dalton
11731
uniprot
proteins
protein_family
COA3 family
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23260140
uniprot
proteins
pubmed
25604084
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26321642
uniprot
proteins
sequence_length
106
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:23260140}; Single-pass membrane protein {ECO:0000269|PubMed:23260140}.
uniprot
proteins
transmembrane_region
TRANSMEM 58..78; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins