Identity
HGNC
LOCATION
11q13.2
LOCUSID
ALIAS
B3GN-T1,B3GNT1,B3GNT6,BETA3GNTI,MDDGA13,iGAT,iGNT
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 11041
MIM: 605517
HGNC: 15685
Ensembl: ENSG00000174684
Variants:
dbSNP: 11041
ClinVar: 11041
TCGA: ENSG00000174684
COSMIC: B4GAT1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000174684 | ENST00000311181 | O43505 |
| ENSG00000174684 | ENST00000311181 | A0A024R5F9 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 25279697 | 2014 | B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan. | 50 |
| 25279697 | 2014 | B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan. | 50 |
| 23359570 | 2013 | Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. | 60 |
| 23877401 | 2013 | A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. | 9 |
| 23359570 | 2013 | Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. | 60 |
| 23877401 | 2013 | A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. | 9 |
| 19261593 | 2009 | Association of beta-1,3-N-acetylglucosaminyltransferase 1 and beta-1,4-galactosyltransferase 1, trans-Golgi enzymes involved in coupled poly-N-acetyllactosamine synthesis. | 17 |
| 19587235 | 2009 | Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase. | 51 |
| 19261593 | 2009 | Association of beta-1,3-N-acetylglucosaminyltransferase 1 and beta-1,4-galactosyltransferase 1, trans-Golgi enzymes involved in coupled poly-N-acetyllactosamine synthesis. | 17 |
| 19587235 | 2009 | Tumor suppressor function of laminin-binding alpha-dystroglycan requires a distinct beta3-N-acetylglucosaminyltransferase. | 51 |
Citation
Dessen P
B4GAT1 (beta-1,4-glucuronyltransferase 1)
Atlas Genet Cytogenet Oncol Haematol. 2009-09-01
Online version: http://atlasgeneticsoncology.org/gene/51124/b4gat1-(beta-1-4-glucuronyltransferase-1)
