TRMT13: tRNA Methyltransferase 13 Homolog
A gene encoding a tRNA methyltransferase involved in RNA modification and potential links to cancer and developmental disorders.
Gene Information Card
| Symbol | TRMT13 |
|---|---|
| Full Name | tRNA methyltransferase 13 homolog |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 54482 ncbi.nlm.nih.gov/gene/54482 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q9BV73 |
| OMIM ID | 616147 |
| HGNC ID | 25979 |
| Aliases | C1orf25, HSPC279, MSTP028 |
Description
TRMT13 (tRNA methyltransferase 13 homolog) encodes a protein that catalyzes the methylation of tRNA, specifically the 2'-O-methylation of guanosine at position 18 (Gm18) in the D-loop of tRNAs. This modification is critical for tRNA stability, folding, and translational fidelity. The gene is located on chromosome 1p34.1 and is expressed in multiple tissues. Mutations and altered expression of TRMT13 have been implicated in cancer and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered TRMT13 expression may affect tRNA modification, impacting translation of oncogenes or tumor suppressors. | COSMIC database reports somatic mutations in multiple cancer types. |
| Neurodevelopmental disorders | Loss-of-function variants may impair tRNA methylation, leading to defective protein synthesis in neurons. | ClinVar lists pathogenic/likely pathogenic variants associated with intellectual disability. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 6.9 | Low expression |
| HepG2 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | <0.01% | Unknown functional impact; reported in ClinVar as VUS |
| c.421C>T (p.Arg141Trp) | Missense | <0.01% | Likely pathogenic; associated with neurodevelopmental disorder |
| c.544_545del (p.Lys182Glufs*3) | Frameshift | <0.01% | Loss-of-function; reported in ClinVar as pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of tRNA methyltransferase activity, leading to impaired tRNA modification and translational defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TRMT13.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for TRMT13.
View complete mutation data：
Gene Ontology (GO)
| • tRNA methyltransferase activity (GO:0008175) | • tRNA methylation (GO:0030488) |
| • tRNA processing (GO:0008033) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Pathways
• tRNA modification in the nucleus and cytoplasm
Protein Summary
The TRMT13 protein is a tRNA methyltransferase that specifically catalyzes the 2'-O-methylation of guanosine at position 18 (Gm18) in the D-loop of tRNAs. This modification is essential for proper tRNA folding, stability, and efficient translation. The protein localizes to both the nucleus and cytoplasm. Structural studies indicate it contains a methyltransferase domain and requires S-adenosylmethionine (SAM) as a cofactor. TRMT13 is evolutionarily conserved and expressed across tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRMT13 Knockout HEK293 Cell Line | EDJ-KQ11433 | Human | 54482 | Details Get a Quote |
| TRMT13 Knockout A-549 Cell Line | EDJ-KQ39692 | Human | 54482 | Details Get a Quote |
| TRMT13 Knockout HCT 116 Cell Line | EDJ-KQ39693 | Human | 54482 | Details Get a Quote |
| TRMT13 Knockout HeLa Cell Line | EDJ-KQ39694 | Human | 54482 | Details Get a Quote |
