TRMT10A
tRNA methyltransferase 10A
Gene Information Card
| Symbol | TRMT10A |
|---|---|
| Full Name | tRNA methyltransferase 10A |
| Gene Type | protein-coding |
| Chromosomal Location | 4q23 |
| NCBI Gene ID | 93587 ncbi.nlm.nih.gov/gene/93587 |
| Ensembl ID | ENSG00000138614 |
| UniProt ID | Q8IZP6 |
| OMIM ID | 616033 |
| HGNC ID | 26082 |
| Aliases | RG9MTD2, TRM10, TRMT10, c14orf172 |
Description
TRMT10A encodes a tRNA methyltransferase that catalyzes the N1-methylation of guanine at position 9 (m1G9) in tRNA. This modification is essential for proper tRNA folding, stability, and translation fidelity. Mutations in TRMT10A cause autosomal recessive intellectual disability, microcephaly, and early-onset diabetes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Microcephaly, intellectual disability, and diabetes mellitus type 2 | Loss-of-function mutations impair tRNA methylation, leading to defective protein translation and cellular stress in brain and pancreatic beta cells | OMIM #616033; PMID: 25223754 |
| Non-insulin-dependent diabetes mellitus | Impaired tRNA modification disrupts insulin secretion and beta-cell survival | ClinVar; PMID: 25223754 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Pancreas | 8.7 | Medium |
| Liver | 6.5 | Low |
| Kidney | 5.9 | Low |
| Testis | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.1 | High expression |
| HeLa | 11.4 | Medium expression |
| SH-SY5Y | 9.8 | Medium expression |
| HepG2 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.239G>A (p.Arg80Gln) | Missense | Rare | Loss of methyltransferase activity |
| c.472C>T (p.Arg158*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic mutations are loss-of-function, reducing or abolishing tRNA methylation activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative effects described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • tRNA methyltransferase activity | • tRNA (guanine-N1-)-methyltransferase activity |
| • tRNA processing | • methylation |
| • cytoplasm |
Pathways
• tRNA modification in the nucleus and cytoplasm
Protein Summary
TRMT10A is a 338-amino acid protein localized to the cytoplasm. It contains a conserved TRM10 domain responsible for catalyzing m1G9 modification on tRNA. The protein is highly expressed in brain and pancreas, consistent with the disease phenotype.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRMT10A Knockout HEK293 Cell Line | EDJ-KQ11240 | Human | 93587 | Details Get a Quote |
| TRMT10A Knockout HeLa Cell Line | EDJ-KQ38004 | Human | 93587 | Details Get a Quote |
| TRMT10A Knockout A-549 Cell Line | EDJ-KQ39326 | Human | 93587 | Details Get a Quote |
| TRMT10A Knockout HCT 116 Cell Line | EDJ-KQ39327 | Human | 93587 | Details Get a Quote |
