Gene
ext1a
- ID
- ZDB-GENE-050211-3
- Name
- exostosin glycosyltransferase 1a
- Symbol
- ext1a Nomenclature History
- Previous Names
-
- fd07d06
- wu:fd07d06
- Type
- protein_coding_gene
- Location
- Chr: 16 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 brain; forebrain neural keel; neural plate; optic vesicle; and tail bud. Orthologous to human EXT1 (exostosin glycosyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from Siekmann et al., 2005
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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:Q5IGR8
|
730 | ||||
|
UniProtKB:A3KMS6
|
730 |
Interactions and Pathways
No data available
Plasmids
No data available