TRMT1: tRNA Methyltransferase 1
A key enzyme in tRNA modification, linked to intellectual disability and cancer
Gene Information Card
| Symbol | TRMT1 |
|---|---|
| Full Name | tRNA methyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.13 |
| NCBI Gene ID | 55621 ncbi.nlm.nih.gov/gene/55621 |
| Ensembl ID | ENSG00000104915 |
| UniProt ID | Q9NXH9 |
| OMIM ID | 611674 |
| HGNC ID | 25980 |
| Aliases | TRM1, FLJ20420 |
Description
TRMT1 encodes a tRNA methyltransferase that catalyzes the formation of N2,N2-dimethylguanosine (m2,2G) at position 26 of tRNA. This modification is important for tRNA stability, folding, and translation efficiency. Mutations in TRMT1 cause autosomal recessive intellectual disability, and the gene is implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal recessive 68 (MRT68) | Loss-of-function mutations impair tRNA methylation, leading to defective protein synthesis in neurons | OMIM #618302 |
| Breast cancer | Altered TRMT1 expression may affect tRNA modification and translation of oncogenic proteins | COSMIC |
| Colorectal cancer | Somatic mutations and expression changes observed | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Medium |
| Testis | 8.5 | Medium |
| Liver | 6.1 | Low |
| Kidney | 5.8 | Low |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | High expression |
| HeLa | 9.5 | Medium expression |
| MCF7 | 7.8 | Medium expression |
| HepG2 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.106C>T (p.Arg36*) | Nonsense | Rare | Loss of function; associated with intellectual disability |
| c.458G>A (p.Arg153Gln) | Missense | Rare | Likely damaging; reported in MRT68 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; reported in MRT68 |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations cause complete loss of tRNA methyltransferase activity, leading to intellectual disability.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • tRNA methyltransferase activity | • tRNA modification |
| • N2 | • N2-dimethylguanosine tRNA methyltransferase activity |
| • cytoplasm | • nucleus |
| • tRNA processing |
Pathways
• tRNA modification in the nucleus and cytoplasm
Protein Summary
TRMT1 is a 659-amino acid protein that localizes to both the nucleus and cytoplasm. It contains a conserved methyltransferase domain and is responsible for the dimethylation of guanosine at position 26 of tRNA. This modification is critical for proper tRNA structure and function. Loss of TRMT1 activity disrupts protein synthesis, particularly in neurons, leading to intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRMT10C Knockout HEK293 Cell Line | EDJ-KQ2924 | Human | 54931 | Details Get a Quote |
| TRMT1L Knockout HEK293 Cell Line | EDJ-KQ9734 | Human | 81627 | Details Get a Quote |
| TRMT10A Knockout HEK293 Cell Line | EDJ-KQ11240 | Human | 93587 | Details Get a Quote |
| TRMT13 Knockout HEK293 Cell Line | EDJ-KQ11433 | Human | 54482 | Details Get a Quote |
| TRMT10B Knockout HEK293 Cell Line | EDJ-KQ15148 | Human | 158234 | Details Get a Quote |
| TRMT1 Knockout HEK293 Cell Line | EDJ-KQ15941 | Human | 55621 | Details Get a Quote |
| TRMT11 Knockout HEK293 Cell Line | EDJ-KQ15944 | Human | 60487 | Details Get a Quote |
| TRMT10C Knockout HCT 116 Cell Line | EDJ-KQ24023 | Human | 54931 | Details Get a Quote |
| TRMT10C Knockout HeLa Cell Line | EDJ-KQ24024 | Human | 54931 | Details Get a Quote |
| TRMT10A Knockout HeLa Cell Line | EDJ-KQ38004 | Human | 93587 | Details Get a Quote |
| TRMT1 Knockout HCT 116 Cell Line | EDJ-KQ46953 | Human | 55621 | Details Get a Quote |
| TRMT1 Knockout HeLa Cell Line | EDJ-KQ46954 | Human | 55621 | Details Get a Quote |
| TRMT10B Knockout A-549 Cell Line | EDJ-KQ46958 | Human | 158234 | Details Get a Quote |
| TRMT10B Knockout HCT 116 Cell Line | EDJ-KQ46960 | Human | 158234 | Details Get a Quote |
| TRMT10B Knockout HeLa Cell Line | EDJ-KQ46961 | Human | 158234 | Details Get a Quote |
