TRMT61B
tRNA methyltransferase 61B
Gene Information Card
| Symbol | TRMT61B |
|---|---|
| Full Name | tRNA methyltransferase 61B |
| Gene Type | protein-coding |
| Chromosomal Location | 2p23.1 |
| NCBI Gene ID | 55035 ncbi.nlm.nih.gov/gene/55035 |
| Ensembl ID | ENSG00000163002 |
| UniProt ID | Q9BVS5 |
| OMIM ID | 619053 |
| HGNC ID | 26020 |
| Aliases | MST103, TRM61B, FLJ20436 |
Description
TRMT61B is a nuclear-encoded mitochondrial tRNA methyltransferase that specifically catalyzes the formation of N1-methyladenosine (m1A) at position 58 of mitochondrial tRNAs. This modification is essential for proper tRNA folding, stability, and mitochondrial translation. The enzyme is localized to the mitochondria and plays a critical role in mitochondrial gene expression and energy metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease (general) | Defective m1A58 modification leads to impaired mitochondrial translation and respiratory chain dysfunction | PMID: 27667665 |
| Combined oxidative phosphorylation deficiency | Loss of TRMT61B function reduces mitochondrial protein synthesis | PMID: 27667665 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Heart | 8.5 | Medium |
| Skeletal Muscle | 7.2 | Medium |
| Liver | 5.1 | Low |
| Brain | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 8.9 | Moderate expression |
| K562 | 6.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Potential loss of function |
| c.287C>T | Missense | Rare | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Reduced m1A58 modification leads to mitochondrial translation defects
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • RNA methyltransferase activity (GO:0008173) |
| • mitochondrion (GO:0005739) | • tRNA methylation (GO:0030488) |
| • tRNA modification (GO:0006400) |
Pathways
• Mitochondrial tRNA modification
• Mitochondrial translation
Protein Summary
TRMT61B is a 45 kDa mitochondrial protein that forms a heterodimer with TRMT6 to catalyze m1A58 modification on mitochondrial tRNAs. It contains an N-terminal mitochondrial targeting sequence and a conserved methyltransferase domain. The enzyme is essential for maintaining mitochondrial tRNA stability and efficient mitochondrial protein synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRMT61B Knockout HEK293 Cell Line | EDJ-KQ15946 | Human | 55006 | Details Get a Quote |
| TRMT61B Knockout A-549 Cell Line | EDJ-KQ46968 | Human | 55006 | Details Get a Quote |
| TRMT61B Knockout HCT 116 Cell Line | EDJ-KQ46969 | Human | 55006 | Details Get a Quote |
| TRMT61B Knockout HeLa Cell Line | EDJ-KQ46970 | Human | 55006 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
