TRMT1L
tRNA methyltransferase 1 like
Gene Information Card
| Symbol | TRMT1L |
|---|---|
| Full Name | tRNA methyltransferase 1 like |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 81627 ncbi.nlm.nih.gov/gene/81627 |
| Ensembl ID | ENSG00000134250 |
| UniProt ID | Q7Z2T5 |
| OMIM ID | 617002 |
| HGNC ID | 26960 |
| Aliases | MGC13170, TRM1L, FLJ22624 |
Description
TRMT1L (tRNA methyltransferase 1 like) encodes a protein that belongs to the methyltransferase superfamily. It is predicted to catalyze the methylation of guanosine at position 26 in tRNA, a modification important for tRNA stability and translation fidelity. The gene is broadly expressed in human tissues and is involved in RNA processing and modification.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Loss-of-function mutations in TRMT1L impair tRNA methylation, leading to defective protein synthesis and neuronal dysfunction. | ClinVar, OMIM |
| Autosomal recessive intellectual developmental disorder | Homozygous missense and frameshift variants in TRMT1L have been reported in patients with global developmental delay. | OMIM #617002 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.7 | Low |
| Liver | 6.2 | Low |
| Heart | 5.1 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.5 | Embryonic kidney cells |
| HeLa | 7.2 | Cervical carcinoma cells |
| K562 | 6.8 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1285C>T (p.Arg429*) | Nonsense | Rare | Loss of function; associated with intellectual disability |
| c.1043G>A (p.Arg348Gln) | Missense | Rare | Likely damaging; disrupts methyltransferase activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of tRNA methyltransferase 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)
| • tRNA methyltransferase activity | • tRNA binding |
| • methylation | • RNA processing |
| • cytoplasm |
Pathways
• tRNA modification in the nucleus and cytoplasm
Protein Summary
TRMT1L is a 659-amino acid protein that functions as a tRNA methyltransferase, specifically catalyzing the N2-methylation of guanosine at position 26 (m2G26) in tRNA. This modification is critical for proper tRNA folding, stability, and efficient translation. The protein localizes to the cytoplasm and is ubiquitously expressed, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRMT1L Knockout HEK293 Cell Line | EDJ-KQ9734 | Human | 81627 | Details Get a Quote |
| TRMT1L Knockout A-549 Cell Line | EDJ-KQ35327 | Human | 81627 | Details Get a Quote |
| TRMT1L Knockout HCT 116 Cell Line | EDJ-KQ36556 | Human | 81627 | Details Get a Quote |
| TRMT1L Knockout HeLa Cell Line | EDJ-KQ36557 | Human | 81627 | Details Get a Quote |
