MTO1 Mitochondrial tRNA Translation 1
Mitochondrial tRNA Modification and Respiratory Chain Function
Gene Information Card
| Symbol | MTO1 |
|---|---|
| Full Name | Mitochondrial tRNA Translation 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q13 |
| NCBI Gene ID | 25821 ncbi.nlm.nih.gov/gene/25821 |
| Ensembl ID | ENSG00000112297 |
| UniProt ID | Q9Y2Z2 |
| OMIM ID | 614667 |
| HGNC ID | 25187 |
| Aliases | MTO1, COXPD10, MSTO1 |
Description
The MTO1 gene encodes a mitochondrial protein that is essential for the 5-carboxymethylaminomethyluridine (mcm5U) modification of mitochondrial tRNAs. This modification is critical for proper mitochondrial translation and oxidative phosphorylation. Mutations in MTO1 cause combined oxidative phosphorylation deficiency 10 (COXPD10), a mitochondrial disorder characterized by lactic acidosis, hypertrophic cardiomyopathy, and neurological impairment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 10 (COXPD10) | Loss-of-function mutations impair mitochondrial tRNA modification, leading to defective translation of mtDNA-encoded respiratory chain subunits. | PMID: 22985903, ClinVar |
| Mitochondrial hypertrophic cardiomyopathy | Defective mitochondrial translation reduces ATP production in cardiac muscle, causing hypertrophic cardiomyopathy. | PMID: 22985903 |
| Lactic acidosis | Impaired oxidative phosphorylation results in anaerobic metabolism and lactate accumulation. | PMID: 22985903 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Liver | 8.1 | Low |
| Brain | 6.4 | Low |
| Kidney | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High expression |
| HEK293 | 11.8 | Medium expression |
| HepG2 | 9.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.557C>T (p.Thr186Ile) | Missense | Rare | Reduced tRNA modification activity |
| c.671G>A (p.Arg224Gln) | Missense | Rare | Impaired mitochondrial translation |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most MTO1 mutations are loss-of-function, reducing or abolishing tRNA modification activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial tRNA modification | • tRNA 5-carboxymethylaminomethyluridine modification |
| • mitochondrial translation | • oxidative phosphorylation |
Pathways
• Mitochondrial tRNA modification
• Oxidative phosphorylation
Protein Summary
MTO1 is a mitochondrial protein that catalyzes the 5-carboxymethylaminomethyluridine (mcm5U) modification of mitochondrial tRNAs. This modification is essential for accurate codon-anticodon pairing during mitochondrial translation. The protein is localized in the mitochondrial matrix and interacts with other tRNA modification enzymes. Defects in MTO1 lead to impaired synthesis of mtDNA-encoded respiratory chain subunits, causing mitochondrial dysfunction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTO1 Knockout HEK293 Cell Line | EDJ-KQ8248 | Human | 25821 | Details Get a Quote |
| MTO1 Knockout A-549 Cell Line | EDJ-KQ34173 | Human | 25821 | Details Get a Quote |
| MTO1 Knockout HCT 116 Cell Line | EDJ-KQ34174 | Human | 25821 | Details Get a Quote |
| MTO1 Knockout HeLa Cell Line | EDJ-KQ34175 | Human | 25821 | Details Get a Quote |
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