MTO1 (mitochondrial tRNA translation optimization 1)

2014-07-01 Affiliation

Identity

HGNC

MTO1

LOCATION

6q13

LOCUSID

25821

ALIAS

CGI-02,COXPD10

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000135297	ENST00000370300	Q9Y2Z2
ENSG00000135297	ENST00000370305	Q9Y2Z2
ENSG00000135297	ENST00000415228	E7EWI1
ENSG00000135297	ENST00000415954	Q9Y2Z2
ENSG00000135297	ENST00000442897	E9PHR8
ENSG00000135297	ENST00000445187	H7C2S9
ENSG00000135297	ENST00000498286	Q9Y2Z2
ENSG00000135297	ENST00000521032	E7EWX0
ENSG00000135297	ENST00000521156	H0YB81
ENSG00000135297	ENST00000522205	E5RFF7
ENSG00000135297	ENST00000523763	H0YBI9
ENSG00000135297	ENST00000524046	H0YC00

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Gene Expression	REACTOME	R-HSA-74160
tRNA processing	REACTOME	R-HSA-72306
tRNA modification in the mitochondrion	REACTOME	R-HSA-6787450

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
22608499	2012	Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.	69
12011058	2002	Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12 S rRNA A1555G mutation.	44
23929671	2013	MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.	26
15542390	2004	Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.	22
25149473	2015	The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome.	19
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
25552653	2015	MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.	15
29440775	2018	Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.	8
19209188	2009	Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.	4
19338775	2009	Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment.	4

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