Identity
HGNC
LOCATION
11q12.3
LOCUSID
ALIAS
GLCATI,JDSCD,glcUAT-I
FUSION GENES
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: 26229
MIM: 606374
HGNC: 923
Ensembl: ENSG00000149541
Variants:
dbSNP: 26229
ClinVar: 26229
TCGA: ENSG00000149541
COSMIC: B3GAT3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31988067 | 2020 | Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. | 7 |
| 31988067 | 2020 | Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. | 7 |
| 28771243 | 2018 | B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation. | 16 |
| 28771243 | 2018 | B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation. | 16 |
| 25893793 | 2015 | Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. | 14 |
| 25893793 | 2015 | Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3. | 14 |
| 21763480 | 2011 | Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. | 50 |
| 21763480 | 2011 | Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. | 50 |
| 18400750 | 2008 | 2-o-phosphorylation of xylose and 6-o-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis. | 30 |
| 18400750 | 2008 | 2-o-phosphorylation of xylose and 6-o-sulfation of galactose in the protein linkage region of glycosaminoglycans influence the glucuronyltransferase-I activity involved in the linkage region synthesis. | 30 |
| 17567734 | 2007 | Molecular basis for acceptor substrate specificity of the human beta1,3-glucuronosyltransferases GlcAT-I and GlcAT-P involved in glycosaminoglycan and HNK-1 carbohydrate epitope biosynthesis, respectively. | 3 |
| 17567734 | 2007 | Molecular basis for acceptor substrate specificity of the human beta1,3-glucuronosyltransferases GlcAT-I and GlcAT-P involved in glycosaminoglycan and HNK-1 carbohydrate epitope biosynthesis, respectively. | 3 |
| 15522873 | 2005 | Phosphorylation and sulfation of oligosaccharide substrates critically influence the activity of human beta1,4-galactosyltransferase 7 (GalT-I) and beta1,3-glucuronosyltransferase I (GlcAT-I) involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. | 28 |
| 15522873 | 2005 | Phosphorylation and sulfation of oligosaccharide substrates critically influence the activity of human beta1,4-galactosyltransferase 7 (GalT-I) and beta1,3-glucuronosyltransferase I (GlcAT-I) involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. | 28 |
| 15601778 | 2004 | Stimulation of proteoglycan synthesis by glucuronosyltransferase-I gene delivery: a strategy to promote cartilage repair. | 28 |
Citation
Dessen P
B3GAT3 (beta-1,3-glucuronyltransferase 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60681/b3gat3-(beta-1-3-glucuronyltransferase-3)
