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 enable protein xylosyltransferase activity. Acts upstream of or within embryonic cranial skeleton morphogenesis and proteoglycan biosynthetic process. Predicted to be located in Golgi membrane. Is expressed in cartilage element; forebrain; and opercle. Human ortholog(s) of this gene implicated in Desbuquois dysplasia; pseudoxanthoma elasticum; and type 1 diabetes mellitus. 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