MTO1 (mitochondrial tRNA translation optimization 1)

2014-07-01  

Identity

HGNC
LOCATION
6q13
LOCUSID
ALIAS
CGI-02,COXPD10
FUSION GENES

Other Information

Locus ID:

NCBI: 25821
MIM: 614667
HGNC: 19261
Ensembl: ENSG00000135297

Variants:

dbSNP: 25821
ClinVar: 25821
TCGA: ENSG00000135297
COSMIC: MTO1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135297ENST00000370300Q9Y2Z2
ENSG00000135297ENST00000370305Q9Y2Z2
ENSG00000135297ENST00000415228E7EWI1
ENSG00000135297ENST00000415954Q9Y2Z2
ENSG00000135297ENST00000442897E9PHR8
ENSG00000135297ENST00000445187H7C2S9
ENSG00000135297ENST00000498286Q9Y2Z2
ENSG00000135297ENST00000521032E7EWX0
ENSG00000135297ENST00000521156H0YB81
ENSG00000135297ENST00000522205E5RFF7
ENSG00000135297ENST00000523763H0YBI9
ENSG00000135297ENST00000524046H0YC00

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
tRNA processingREACTOMER-HSA-72306
tRNA modification in the mitochondrionREACTOMER-HSA-6787450

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
349905972022Clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation.3
349905972022Clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation.3
342382062021CircMTO1 inhibits ox-LDL-stimulated vascular smooth muscle cell proliferation and migration via regulating the miR-182-5p/RASA1 axis.7
349309062021CircMTO1 suppresses hepatocellular carcinoma progression via the miR-541-5p/ZIC1 axis by regulating Wnt/β-catenin signaling pathway and epithelial-to-mesenchymal transition.21
342382062021CircMTO1 inhibits ox-LDL-stimulated vascular smooth muscle cell proliferation and migration via regulating the miR-182-5p/RASA1 axis.7
349309062021CircMTO1 suppresses hepatocellular carcinoma progression via the miR-541-5p/ZIC1 axis by regulating Wnt/β-catenin signaling pathway and epithelial-to-mesenchymal transition.21
318421462020Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy.2
327318162020Circular RNA MTO1 Inhibits the Proliferation and Invasion of Ovarian Cancer Cells Through the miR-182-5p/KLF15 Axis.13
318421462020Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy.2
327318162020Circular RNA MTO1 Inhibits the Proliferation and Invasion of Ovarian Cancer Cells Through the miR-182-5p/KLF15 Axis.13
311483652019CircMTO1 inhibits liver fibrosis via regulation of miR-17-5p and Smad7.28
311483652019CircMTO1 inhibits liver fibrosis via regulation of miR-17-5p and Smad7.28
293311712018The genotypic and phenotypic spectrum of MTO1 deficiency.9
293486862018Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis.14
294407752018Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.14

Citation

Dessen P

MTO1 (mitochondrial tRNA translation optimization 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-07-01

Online version: http://atlasgeneticsoncology.org/gene/54043/mto1-(mitochondrial-trna-translation-optimization-1)