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 enable glucuronosyltransferase activity. Acts upstream of or within muscle cell development and protein glycosylation. Predicted to be located in Golgi membrane. Predicted to be active in 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