TACO1 (translational activator of cytochrome c oxidase I)

2014-11-01  

Identity

HGNC
LOCATION
17q23.3
LOCUSID
ALIAS
CCDC44,MC4DN8
FUSION GENES

Other Information

Locus ID:

NCBI: 51204
MIM: 612958
HGNC: 24316
Ensembl: ENSG00000136463

Variants:

dbSNP: 51204
ClinVar: 51204
TCGA: ENSG00000136463
COSMIC: TACO1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136463ENST00000258975Q9BSH4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Metabolic GenesREACTOMER-HSA-5628897
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
195030892009Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.85
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
207277542010Clinical and neuropathological findings in patients with TACO1 mutations.5

Citation

Dessen P

TACO1 (translational activator of cytochrome c oxidase I)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74457/taco1