QTRT1: Queuine tRNA-Ribosyltransferase Catalytic Subunit 1
Essential enzyme in tRNA modification and queuosine biosynthesis
Gene Information Card
| Symbol | QTRT1 |
|---|---|
| Full Name | Queuine tRNA-ribosyltransferase catalytic subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 81890 ncbi.nlm.nih.gov/gene/81890 |
| Ensembl ID | ENSG00000105641 |
| UniProt ID | Q9BXR0 |
| OMIM ID | 611142 |
| HGNC ID | 23721 |
| Aliases | TGT, TGTase, QTRT, QUEUINE TRANSGLYCOSYLASE |
Description
QTRT1 encodes the catalytic subunit of tRNA-guanine transglycosylase, an enzyme that exchanges guanine for queuine in the anticodon wobble position of tRNAs specific for Asp, Asn, His, and Tyr. This modification is essential for accurate translation and is linked to cellular stress responses and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered queuosine modification affects translation fidelity and tumor suppressor expression | PMID: 25652263 |
| Hepatocellular carcinoma | Reduced QTRT1 expression correlates with poor prognosis and altered tRNA modification | PMID: 29187737 |
| Neurodevelopmental disorders | Hypomorphic QTRT1 variants impair queuosine incorporation, affecting neuronal protein synthesis | ClinVar: RCV000626014 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Brain | 6.5 | Low |
| Colon | 15.1 | High |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HepG2 | 11.5 | Moderate expression |
| HCT116 | 16.8 | High expression |
| SH-SY5Y | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.001% (gnomAD) | Reduced catalytic activity; associated with neurodevelopmental delay |
| c.1246G>A (p.Gly416Arg) | Missense | 0.0005% (gnomAD) | Impaired queuine binding; loss of function |
| c.1432_1433del (p.Leu478fs) | Frameshift | <0.0001% | Complete loss of enzyme activity; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift variants that reduce or abolish queuine incorporation into tRNA, leading to translational infidelity.
Gain of Function (GOF)
Not reported for QTRT1.
Dominant Negative (DN)
Not reported; QTRT1 functions as a homodimer, but dominant-negative effects have not been documented.
View complete mutation data：
Gene Ontology (GO)
| • tRNA-guanine transglycosylase activity | • queuine binding |
| • tRNA modification | • tRNA wobble base modification |
| • cytoplasm |
Pathways
• tRNA modification in the nucleus and cytoplasm
• Queuosine biosynthesis
Protein Summary
QTRT1 is the catalytic subunit of the tRNA-guanine transglycosylase (TGT) heterodimer. It catalyzes the exchange of guanine for queuine at position 34 of tRNAs for Asp, Asn, His, and Tyr. The protein is highly conserved and plays a role in translational accuracy, stress response, and cancer biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| QTRT1 Knockout HEK293 Cell Line | EDJ-KQ2156 | Human | 81890 | Details Get a Quote |
| QTRT1 Knockout HCT 116 Cell Line | EDJ-KQ21039 | Human | 81890 | Details Get a Quote |
| QTRT1 Knockout A-549 Cell Line | EDJ-KQ22350 | Human | 81890 | Details Get a Quote |
| QTRT1 Knockout HeLa Cell Line | EDJ-KQ22352 | Human | 81890 | Details Get a Quote |
