Gene
xylt1
- ID
- ZDB-GENE-111017-2
- Name
- xylosyltransferase I
- Symbol
- xylt1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to have protein xylosyltransferase activity. Involved in embryonic cranial skeleton morphogenesis and proteoglycan biosynthetic process. Predicted to localize to membrane. Human ortholog(s) of this gene implicated in Desbuquois dysplasia; pseudoxanthoma elasticum; and type 1 diabetes mellitus. Is expressed in cartilage element; forebrain; and opercle. Orthologous to human XYLT1 (xylosyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Eames et al., 2011
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Desbuquois dysplasia | Alliance | Desbuquois dysplasia 2 | 615777 |
| pseudoxanthoma elasticum | Alliance | {Pseudoxanthoma elasticum, modifier of severity of} | 264800 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Glycosyl transferase, family 14 | Xylosyltransferase | Xylosyltransferase, C-terminal |
|---|---|---|---|---|
|
UniProtKB:D3J0E7
|
919 |
Interactions and Pathways
No data available
Plasmids