TRDMT1 (tRNA aspartic acid methyltransferase 1)
A conserved RNA methyltransferase implicated in epigenetic regulation and cancer
Gene Information Card
| Symbol | TRDMT1 |
|---|---|
| Full Name | tRNA aspartic acid methyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10p15.1 |
| NCBI Gene ID | 1787 ncbi.nlm.nih.gov/gene/1787 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | O14717 |
| OMIM ID | 602478 |
| HGNC ID | 3029 |
| Aliases | DNMT2, M.HsaIIP, PUMET, RNMT1 |
Description
TRDMT1 (tRNA aspartic acid methyltransferase 1), historically known as DNMT2, encodes a methyltransferase that primarily methylates cytosine 38 in the anticodon loop of tRNA(Asp). Despite its sequence similarity to DNA methyltransferases, TRDMT1 exhibits robust RNA methyltransferase activity and minimal DNA methylation activity. It is highly conserved across eukaryotes and plays roles in tRNA stability, stress response, and translational regulation. TRDMT1 has been implicated in various cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations in TRDMT1 may affect tRNA methylation, leading to dysregulated translation and tumorigenesis. | COSMIC, ClinVar |
| Primary microcephaly | Homozygous missense variants in TRDMT1 have been reported in patients with microcephaly, suggesting a role in neurodevelopment. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 5.3 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 9.3 | Moderate expression |
| HepG2 | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.419C>T (p.Ala140Val) | Missense | <0.01% | Reported in primary microcephaly; may reduce methyltransferase activity |
| c.1066G>A (p.Gly356Arg) | Missense | <0.01% | Found in cancer samples; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Ala140Val are predicted to impair catalytic activity, leading to reduced tRNA methylation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TRDMT1.
Dominant Negative (DN)
No dominant-negative mutations have been described for TRDMT1.
View complete mutation data：
Gene Ontology (GO)
| • tRNA methyltransferase activity | • RNA methylation |
| • cytosine C-5 methylation | • tRNA processing |
| • nucleus | • cytoplasm |
Pathways
• tRNA modification in the nucleus and cytoplasm
Protein Summary
TRDMT1 is a 391-amino-acid protein that contains a methyltransferase domain. It specifically methylates cytosine 38 in the anticodon loop of tRNA(Asp), using S-adenosyl-L-methionine as a methyl donor. The protein localizes to both the nucleus and cytoplasm. Its activity is important for tRNA stability and efficient translation. TRDMT1 is also implicated in stress-induced translational reprogramming.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRDMT1 Knockout HEK293 Cell Line | EDJ-KQ4474 | Human | 1787 | Details Get a Quote |
| TRDMT1 Knockout A-549 Cell Line | EDJ-KQ27035 | Human | 1787 | Details Get a Quote |
| TRDMT1 Knockout HCT 116 Cell Line | EDJ-KQ27036 | Human | 1787 | Details Get a Quote |
| TRDMT1 Knockout HeLa Cell Line | EDJ-KQ27037 | Human | 1787 | Details Get a Quote |
| TRDMT1 Knockout HAP1 Cell Line | EDC08030 | Human | 1787 | Details Get a Quote |
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