TRMT44 Gene - tRNA Methyltransferase 44 Homolog
Genetic and Functional Insights into TRMT44, a tRNA Modification Enzyme
Gene Information Card
| Symbol | TRMT44 |
|---|---|
| Full Name | tRNA methyltransferase 44 homolog |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.3 |
| NCBI Gene ID | 285753 ncbi.nlm.nih.gov/gene/285753 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q8IYT8 |
| OMIM ID | 617003 |
| HGNC ID | 28309 |
| Aliases | FLJ20489, MGC117215 |
Description
TRMT44 encodes a protein that is a homolog of tRNA methyltransferase 44, which is involved in the modification of transfer RNAs. This enzyme catalyzes the methylation of tRNA molecules, contributing to their stability and proper function in protein synthesis. The gene is located on the short arm of chromosome 4 and is expressed in various tissues, with potential roles in cellular metabolism and disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Altered expression may affect tRNA modification, impacting translation and cell proliferation. | COSMIC database shows mutations in various cancer types, but functional significance is not fully established. |
| Neurodevelopmental disorders | Potential involvement in tRNA modification pathways, which are critical for neuronal function. | Limited evidence; no direct clinical association reported in OMIM or ClinVar. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Thyroid | 8.5 | Low |
| Adrenal gland | 7.2 | Low |
| Brain | 5.1 | Low |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression in cervical cancer cell line |
| K562 | 10.8 | Moderate expression in leukemia cell line |
| A549 | 8.1 | Low expression in lung carcinoma cell line |
| MCF7 | 6.5 | Low expression in breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | 0.01% (gnomAD) | Unknown; predicted benign by in silico tools |
| c.456C>T (p.Ser152Leu) | Missense | 0.005% (gnomAD) | Unknown; may affect protein stability |
| c.789del (p.Gln263fs) | Frameshift | Rare | Likely loss of function; not reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations, such as frameshift or nonsense, are rare and may lead to reduced tRNA methylation, potentially affecting translation fidelity. No disease association has been established.
Gain of Function (GOF)
No evidence for gain-of-function mutations in TRMT44.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • tRNA methyltransferase activity | • tRNA binding |
| • methylation | • tRNA processing |
| • cytoplasm |
Pathways
• tRNA modification
• Protein synthesis
Protein Summary
The TRMT44 protein is a tRNA methyltransferase that catalyzes the methylation of tRNA molecules, specifically at the 2'-O-ribose of the wobble position, which is crucial for accurate translation. It is localized in the cytoplasm and is expressed in various tissues, with higher levels in testis and thyroid. The protein is involved in maintaining tRNA stability and function, and its dysregulation may contribute to disease, though detailed mechanisms remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRMT44 Knockout HEK293 Cell Line | EDJ-KQ10825 | Human | 152992 | Details Get a Quote |
| TRMT44 Knockout A-549 Cell Line | EDJ-KQ39815 | Human | 152992 | Details Get a Quote |
| TRMT44 Knockout HCT 116 Cell Line | EDJ-KQ39816 | Human | 152992 | Details Get a Quote |
| TRMT44 Knockout HeLa Cell Line | EDJ-KQ39817 | Human | 152992 | Details Get a Quote |
