Gene
chsy1
- ID
- ZDB-GENE-030131-3127
- Name
- chondroitin sulfate synthase 1
- Symbol
- chsy1 Nomenclature History
- Previous Names
-
- chys1
- wu:fc27h05
- wu:fc27h06
- zgc:64191
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have acetylgalactosaminyltransferase activity. Involved in several processes, including animal organ morphogenesis; chondroitin sulfate proteoglycan biosynthetic process; and regulation of Notch signaling pathway. Predicted to localize to Golgi cisterna membrane and integral component of membrane. Human ortholog(s) of this gene implicated in temtamy preaxial brachydactyly syndrome. Is expressed in several structures, including cranium; forerunner cell group; inner ear; optic primordium; and pectoral fin bud. Orthologous to human CHSY1 (chondroitin sulfate synthase 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 11 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:64191 (10 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
temtamy preaxial brachydactyly syndrome | Alliance | Temtamy preaxial brachydactyly syndrome | 605282 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Chondroitin N-acetylgalactosaminyltransferase | Chondroitin sulfate glycosyltransferase | Nucleotide-diphospho-sugar transferases |
---|---|---|---|---|
UniProtKB:Q6P296
|
801 |
Interactions and Pathways
No data available
Plasmids
No data available