Gene
b4gat1
- ID
- ZDB-GENE-121001-5
- Name
- beta-1,4-glucuronyltransferase 1
- Symbol
- b4gat1 Nomenclature History
- Previous Names
-
- b3gnt1
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have glucuronosyltransferase activity. Involved in muscle fiber development and protein glycosylation. Predicted to localize to Golgi apparatus. Used to study Walker-Warburg syndrome. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A13. Orthologous to human B4GAT1 (beta-1,4-glucuronyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Buysse et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital muscular dystrophy-dystroglycanopathy type A13 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 | 615287 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Walker-Warburg syndrome | WT + MO1-b4gat1 | standard conditions | Buysse et al., 2013 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR043189 | Beta-1,4-glucuronyltransferase 1 |
Domain Details Per Protein
| Protein | Length | Beta-1,4-glucuronyltransferase 1 |
|---|---|---|
|
UniProtKB:L7YAI7
|
431 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
b4gat1-201
(1)
|
Ensembl | 5,080 nt |
Interactions and Pathways
No data available
Plasmids
No data available