TACO1
entrez
51204
canonical
uniprot
Q9BSH4
canonical
ensembl
ENSG00000136463
resolver
ensp
ENSP00000258975
resolver
enst
ENST00000258975
resolver
genesymbol
TACO1
resolver
genesymbol_syn
CCDC44
resolver
hgnc
HGNC:24316
resolver
uniprot
B2RD21
resolver
uniprot
Q8N3N6
resolver
uniprot
Q9UI60
resolver
uniprot_entry
TACO1_HUMAN
resolver
uniprot_sec
B2RD21
resolver
uniprot_sec
Q8N3N6
resolver
uniprot_sec
Q9UI60
resolver
amino_acid_sequence
MSAWAAASLSRAAARCLLARGPGVRAAPPRDPRPSHPEPRGCGAAPGRTLHFTAAVPAGHNKWSKVRHIKGPKDVERSRIFSKLCLNIRLAVKEGGPNPEHNSNLANILEVCRSKHMPKSTIETALKMEKSKDTYLLYEGRGPGGSSLLIEALSNSSHKCQADIRHILNKNGGVMAVGARHSFDKKGVIVVEVEDREKKAVNLERALEMAIEAGAEDVKETEDEEERNVFKFICDASSLHQVRKKLDSLGLCSVSCALEFIPNSKVQLAEPDLEQAAHLIQALSNHEDVIHVYDNIE
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex IV deficiency, nuclear type 8 (MC4DN8) [MIM:619052]: An autosomal recessive mitochondrial disorder characterized by slowly progressive cognitive dysfunction, dystonia or visual impairment that appear after an uneventful early childhood. Additional features include gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability. Brain imaging shows white matter abnormalities in the basal ganglia. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. {ECO:0000269|PubMed:19503089}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. {ECO:0000269|PubMed:19503089}.
uniprot
proteins
mass_dalton
32477
uniprot
proteins
protein_family
TACO1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19503089
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
sequence_length
297
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:19503089}.
uniprot
proteins