GXYLT1: Glucoside Xylosyltransferase 1
Gene encoding a xylosyltransferase involved in Notch signaling and O-glycosylation
Gene Information Card
| Symbol | GXYLT1 |
|---|---|
| Full Name | Glucoside Xylosyltransferase 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 12q12 |
| NCBI Gene ID | 283464 ncbi.nlm.nih.gov/gene/283464 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8NBI6 |
| OMIM ID | 615642 |
| HGNC ID | 26677 |
| Aliases | C12orf2, XT-II, XylT2 |
Description
GXYLT1 encodes glucoside xylosyltransferase 1, an enzyme that catalyzes the transfer of xylose from UDP-xylose to a glucosyl residue on Notch receptors, initiating O-glucose glycan elongation. This modification regulates Notch signaling by modulating receptor trafficking and activation. GXYLT1 is expressed in various tissues and is implicated in developmental processes and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered Notch signaling due to GXYLT1 dysregulation may promote tumorigenesis | COSMIC database reports somatic mutations in multiple cancer types |
| Developmental disorders | Potential impact on Notch-mediated cell fate decisions | Inferred from gene function; limited direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Heart | 5.1 | Low |
| Liver | 3.4 | Low |
| Lung | 6.7 | Medium |
| Kidney | 4.9 | Low |
| Testis | 12.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.5 | Cervical cancer cells |
| K562 | 4.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.02% (gnomAD) | Unknown functional effect |
| c.1234G>A (p.Glu412Lys) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.789_790insA | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely cause loss of xylosyltransferase activity, impairing Notch O-glucosylation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • UDP-xylosyltransferase activity (GO:0035252) | • protein glycosylation (GO:0006486) |
| • Notch signaling pathway (GO:0007219) | • integral component of membrane (GO:0016021) |
Pathways
• Notch signaling (O-glucosylation)
• O-glycan biosynthesis
Protein Summary
Glucoside xylosyltransferase 1 is a type II transmembrane protein localized in the Golgi apparatus. It transfers xylose to O-glucose residues on Notch receptors, a key step in the elongation of O-linked glycans. This modification influences Notch receptor trafficking and signaling strength. The enzyme is encoded by GXYLT1, which is conserved across vertebrates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GXYLT1 Knockout HEK293 Cell Line | EDJ-KQ1032 | Human | 283464 | Details Get a Quote |
| GXYLT1 Knockout A-549 Cell Line | EDJ-KQ20135 | Human | 283464 | Details Get a Quote |
| GXYLT1 Knockout HCT 116 Cell Line | EDJ-KQ20136 | Human | 283464 | Details Get a Quote |
| GXYLT1 Knockout HeLa Cell Line | EDJ-KQ20137 | Human | 283464 | Details Get a Quote |
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