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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa34005 | Allele with one point mutation | Unknown | Premature Stop | ENU |
1 - 1 of 1
Show
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 |
1 - 1 of 1
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| Walker-Warburg syndrome | WT + MO1-b4gat1 | standard conditions | Buysse et al., 2013 |
1 - 1 of 1
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR043189 | Beta-1,4-glucuronyltransferase 1 |
1 - 1 of 1
Domain Details Per Protein
| Protein | Length | Beta-1,4-glucuronyltransferase 1 |
|---|---|---|
|
UniProtKB:L7YAI7
|
431 |
1 - 1 of 1
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
b4gat1-201
(1)
|
Ensembl | 5,080 nt |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-42C5 |
1 - 1 of 1
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001278828 (1) | 1643 nt | ||
| Genomic | GenBank:BX324230 (1) | 179902 nt | ||
| Polypeptide | UniProtKB:L7YAI7 (1) | 431 aa |
- Serafini, P.R., Feyder, M.J., Hightower, R.M., Garcia-Perez, D., Vieira, N.M., Lek, A., Gibbs, D.E., Moukha-Chafiq, O., Augelli-Szafran, C.E., Kawahara, G., Widrick, J.J., Kunkel, L.M., Alexander, M.S. (2018) A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. JCI insight. 3(18):
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Buysse, K., Riemersma, M., Powell, G., van Reeuwijk, J., Chitayat, D., Roscioli, T., Kamsteeg, E.J., van den Elzen, C., van Beusekomm, E., Blaser, S., Babul-Hirji, R., Halliday, W., Wright, G.J., Stemple, D.L., Lin, Y.Y., Lefeber, D.J., and van Bokhoven, H. (2013) Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Human molecular genetics. 22(9):1746-1754
1 - 3 of 3
Show