TRIT1 Gene - tRNA Isopentenyltransferase 1
Essential for mitochondrial tRNA modification and linked to combined oxidative phosphorylation deficiency
Gene Information Card
| Symbol | TRIT1 |
|---|---|
| Full Name | tRNA isopentenyltransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 54802 ncbi.nlm.nih.gov/gene/54802 |
| Ensembl ID | ENSG00000143178 |
| UniProt ID | Q9H3H1 |
| OMIM ID | 617873 |
| HGNC ID | 20286 |
| Aliases | IPT, MOD5, TRIT1, IPPT |
Description
The TRIT1 gene encodes tRNA isopentenyltransferase 1, a mitochondrial enzyme that catalyzes the isopentenylation of adenine at position 37 (A37) in a subset of tRNAs. This modification is critical for proper tRNA folding, stability, and codon-anticodon interactions, particularly in mitochondrial translation. Mutations in TRIT1 cause combined oxidative phosphorylation deficiency 35 (COXPD35), a severe multisystem disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Combined oxidative phosphorylation deficiency 35 (COXPD35) | Loss-of-function mutations impair tRNA modification, leading to defective mitochondrial protein synthesis and reduced oxidative phosphorylation. | ClinVar, OMIM |
| Mitochondrial encephalopathy | Impaired mitochondrial translation due to TRIT1 deficiency affects energy production in neural tissues. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.2 | Medium |
| Heart | 6.5 | Medium |
| Brain | 5.1 | Low |
| Skeletal Muscle | 4.8 | Low |
| Kidney | 7.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.3 | Cervical cancer cell line |
| HEK293 | 8.7 | Embryonic kidney cells |
| SH-SY5Y | 6.2 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.259C>T (p.Arg87Trp) | Missense | Rare | Loss of enzymatic activity, associated with COXPD35 |
| c.494G>A (p.Arg165Gln) | Missense | Rare | Reduced tRNA isopentenylation, pathogenic |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most TRIT1 mutations are loss-of-function, reducing or abolishing tRNA isopentenyltransferase activity, leading to mitochondrial translation defects.
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 isopentenyltransferase activity | • tRNA modification |
| • mitochondrion | • mitochondrial translation |
| • ATP binding |
Pathways
• tRNA modification in mitochondria
• Mitochondrial translation
• Oxidative phosphorylation
Protein Summary
TRIT1 is a 366-amino acid mitochondrial protein that catalyzes the transfer of an isopentenyl group from dimethylallyl diphosphate to the N6 position of adenine 37 in tRNAs. This modification is essential for efficient mitochondrial translation and energy production. The protein contains a conserved IPP transferase domain and localizes to the mitochondrial matrix.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRIT1 Knockout HEK293 Cell Line | EDJ-KQ15939 | Human | 54802 | Details Get a Quote |
| TRIT1 Knockout A-549 Cell Line | EDJ-KQ46950 | Human | 54802 | Details Get a Quote |
| TRIT1 Knockout HCT 116 Cell Line | EDJ-KQ46951 | Human | 54802 | Details Get a Quote |
| TRIT1 Knockout HeLa Cell Line | EDJ-KQ46952 | Human | 54802 | Details Get a Quote |
