Gene
ext1b
- ID
- ZDB-GENE-050211-4
- Name
- exostosin glycosyltransferase 1b
- Symbol
- ext1b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Predicted to be involved in heparan sulfate proteoglycan biosynthetic process. Predicted to localize to Golgi apparatus and integral component of endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in chondrosarcoma; hereditary multiple exostoses; and trichorhinophalangeal syndrome type II. Is expressed in several structures, including axial mesoderm; brain; germ ring; pronephric duct; and tail bud. Orthologous to human EXT1 (exostosin glycosyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu2454 (10 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| chondrosarcoma | Alliance | Chondrosarcoma | 215300 |
| hereditary multiple exostoses | Alliance | Exostoses, multiple, type 1 | 133700 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Exostosin, GT47 domain | Exostosin-like | Glycosyl transferase 64 domain | Nucleotide-diphospho-sugar transferases |
|---|---|---|---|---|---|
|
UniProtKB:A0JMJ3
|
741 | ||||
|
UniProtKB:Q5IGR7
|
741 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available