XXYLT1
Xyloside xylosyltransferase 1
Gene Information Card
| Symbol | XXYLT1 |
|---|---|
| Full Name | Xyloside xylosyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q29 |
| NCBI Gene ID | 152002 ncbi.nlm.nih.gov/gene/152002 |
| Ensembl ID | ENSG00000186847 |
| UniProt ID | Q8NBI6 |
| OMIM ID | 614552 |
| HGNC ID | 30615 |
| Aliases | C3orf21, FLJ38975, MGC26733 |
Description
XXYLT1 encodes a glycosyltransferase that catalyzes the transfer of xylose from UDP-xylose to a xylose acceptor, forming a xylose-xylose linkage. This enzyme is involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans, specifically adding the second xylose residue to the tetrasaccharide linker. The gene is located on chromosome 3q29 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 4.2 | Low |
| Heart | 3.1 | Low |
| Liver | 2.5 | Low |
| Kidney | 3.8 | Low |
| Testis | 5.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 6.1 | Moderate expression |
| HeLa | 4.5 | Low expression |
| K562 | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | 0.0004% (gnomAD) | Unknown functional effect |
| c.200G>A (p.Arg67His) | Missense | 0.0002% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • xylosyltransferase activity | • transferase activity |
| • glycosaminoglycan biosynthetic process | • proteoglycan biosynthetic process |
| • endoplasmic reticulum | • Golgi apparatus |
Pathways
• Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
• Glycosaminoglycan biosynthesis - heparan sulfate / heparin
Protein Summary
XXYLT1 is a 392-amino acid type II transmembrane protein localized to the Golgi apparatus. It functions as a xyloside xylosyltransferase, catalyzing the addition of a second xylose residue to the tetrasaccharide linker region of proteoglycans. This step is essential for the elongation of glycosaminoglycan chains. The protein contains a single transmembrane domain and a catalytic domain facing the Golgi lumen.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| XXYLT1 Knockout HEK293 Cell Line | EDJ-KQ11361 | Human | 152002 | Details Get a Quote |
| XXYLT1 Knockout A-549 Cell Line | EDJ-KQ39541 | Human | 152002 | Details Get a Quote |
| XXYLT1 Knockout HCT 116 Cell Line | EDJ-KQ39542 | Human | 152002 | Details Get a Quote |
| XXYLT1 Knockout HeLa Cell Line | EDJ-KQ39543 | Human | 152002 | Details Get a Quote |
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