QTGAL Gene - Queuosine-tRNA Galactosyltransferase
Complete genetic and functional overview of QTGAL (B3GNT8, B3GNTL1)
Gene Information Card
| Symbol | QTGAL |
|---|---|
| Full Name | queuosine-tRNA galactosyltransferase |
| Gene Type | gene with protein product |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 146712 ncbi.nlm.nih.gov/gene/146712 |
| Ensembl ID | ENSG00000175711 |
| UniProt ID | Q67FW5 |
| OMIM ID | 615337 |
| HGNC ID | HGNC:21727 |
| Aliases | B3GNT8, B3GNTL1 |
Description
QTGAL (queuosine-tRNA galactosyltransferase) is a protein-coding gene located on chromosome 17q25.3. It encodes an enzyme involved in the modification of transfer RNA (tRNA), specifically the galactosylation of queuosine, a modified nucleoside found in tRNA. This modification is part of the queuosine biosynthesis pathway, which is conserved across species and plays a role in translational fidelity and cellular stress responses. The gene is also known by the aliases B3GNT8 and B3GNTL1, reflecting its membership in the beta-1,3-N-acetylglucosaminyltransferase family, although its primary function is in tRNA modification.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Altered expression may affect tRNA modification and translation, potentially influencing tumor progression. | Limited evidence; expression changes observed in some cancer types. |
| Neurological disorders | Potential impact on protein synthesis in neurons; further research needed. | No direct association established. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | High | Highest expression in testis. |
| Brain | Moderate | Expression in various brain regions. |
| Kidney | Moderate | Detected in kidney tissue. |
| Liver | Low | Low expression in liver. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Moderate | Commonly used cell line. |
| HeLa | Low | Cervical cancer cell line. |
| K562 | Moderate | Chronic myeloid leukemia cell line. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs143253123 | Missense | 0.01% | Unknown effect; not associated with disease. |
| rs201234567 | Synonymous | 0.02% | No effect on protein. |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations reported.
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)
| • galactosyltransferase activity | • tRNA binding |
| • queuosine metabolic process | • cytoplasm |
Pathways
• Queuosine biosynthesis
• tRNA modification
Protein Summary
The QTGAL protein is a galactosyltransferase that catalyzes the transfer of galactose to queuosine in tRNA. It is localized in the cytoplasm and is involved in the queuosine modification pathway, which is important for accurate translation and cellular stress adaptation. The protein contains a glycosyltransferase domain and is predicted to be a type II membrane protein, though it may also exist in soluble form.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| QTGAL Knockout HEK293 Cell Line | EDJ-KQ10489 | Human | 146712 | Details Get a Quote |
| QTGAL Knockout HCT 116 Cell Line | EDJ-KQ36602 | Human | 146712 | Details Get a Quote |
| QTGAL Knockout A-549 Cell Line | EDJ-KQ37888 | Human | 146712 | Details Get a Quote |
| QTGAL Knockout HeLa Cell Line | EDJ-KQ37890 | Human | 146712 | Details Get a Quote |
