ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable 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 be located in endoplasmic reticulum membrane. Predicted to be active in Golgi apparatus. Is expressed in several structures, including brain; forebrain neural keel; neural plate; optic vesicle; and tail bud. Human ortholog(s) of this gene implicated in chondrosarcoma and hereditary multiple exostoses. Orthologous to human EXT1 (exostosin glycosyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 2 publications
- 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 | Additional Resources | Length | Exostosin, GT47 domain | Exostosin-like | Glycosyl transferase 64 domain | Nucleotide-diphospho-sugar transferases |
|---|---|---|---|---|---|---|
| UniProtKB:Q5IGR8 | InterPro | 730 | ||||
| UniProtKB:A3KMS6 | InterPro | 730 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers