TRPT1: tRNA Phosphotransferase 1
A key enzyme in tRNA splicing and RNA repair, linked to neurological and cancer phenotypes.
Gene Information Card
| Symbol | TRPT1 |
|---|---|
| Full Name | tRNA phosphotransferase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 83707 ncbi.nlm.nih.gov/gene/83707 |
| Ensembl ID | ENSG00000149179 |
| UniProt ID | Q86TN4 |
| OMIM ID | 618710 |
| HGNC ID | 20325 |
| Aliases | TRPT1, hTRPT1, CGI-12, HSPC142 |
Description
TRPT1 encodes tRNA phosphotransferase 1, an enzyme that catalyzes the 2'-phosphotransferase step of tRNA splicing, transferring the 2'-phosphate from ligated tRNA to NAD+ to produce ADP-ribose 1'',2''-cyclic phosphate. It also participates in RNA repair pathways. The gene is located on chromosome 11q13.1 and is widely expressed. Mutations and altered expression have been associated with neurological disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and seizures | Loss of TRPT1 function impairs tRNA splicing and RNA repair, leading to neuronal dysfunction | ClinVar; OMIM #618710 |
| Glioblastoma | TRPT1 overexpression may support RNA repair in rapidly dividing tumor cells | COSMIC; NCBI Gene |
| Colorectal cancer | Somatic mutations in TRPT1 observed, potential role in RNA metabolism dysregulation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 15.3 | Medium |
| Liver | 8.2 | Low |
| Kidney | 9.1 | Low |
| Heart | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney, moderate expression |
| K562 | 6.8 | Leukemia cell line, low expression |
| HeLa | 9.5 | Cervical carcinoma, moderate expression |
| SH-SY5Y | 11.2 | Neuroblastoma, higher expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | <0.01% | Loss of function; associated with neurodevelopmental disorder |
| c.482G>A (p.Arg161Gln) | Missense | <0.01% | Reduced enzymatic activity; ClinVar pathogenic |
| c.625_626insA (p.Thr209Asnfs*12) | Frameshift | <0.01% | Loss of function; reported in glioblastoma (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg113*, p.Thr209Asnfs*12) lead to truncated or absent protein, impairing tRNA splicing and RNA repair.
Gain of Function (GOF)
No gain-of-function mutations currently reported in COSMIC or ClinVar.
Dominant Negative (DN)
No dominant-negative mutations currently described.
View complete mutation data：
Gene Ontology (GO)
| • tRNA 2'-phosphotransferase activity (GO:0000210) | • tRNA splicing (GO:0006388) |
| • cytoplasm (GO:0005737) | • nucleus (GO:0005634) |
| • RNA binding (GO:0003723) |
Pathways
• tRNA splicing pathway (R-HSA-6782311)
• RNA repair (R-HSA-6782312)
Protein Summary
TRPT1 is a 346-amino acid protein with a molecular weight of ~39 kDa. It contains a conserved 2'-phosphotransferase domain that catalyzes the transfer of a 2'-phosphate from ligated tRNA to NAD+. The protein is localized in both the cytoplasm and nucleus. Structural studies show it adopts a Rossmann-like fold. Post-translational modifications include phosphorylation at Ser/Thr residues, which may regulate activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRPT1 Knockout HEK293 Cell Line | EDJ-KQ51791 | Human | 83707 | Details Get a Quote |
| TRPT1 Knockout HeLa Cell Line | EDJ-KQ57471 | Human | 83707 | Details Get a Quote |
| TRPT1 Knockout A-549 Cell Line | EDJ-KQ65973 | Human | 83707 | Details Get a Quote |
| TRPT1 Knockout HCT 116 Cell Line | EDJ-KQ74397 | Human | 83707 | Details Get a Quote |
