Aliases for B3GAT1 Gene
External Ids for B3GAT1 Gene
Previous HGNC Symbols for B3GAT1 Gene
Previous GeneCards Identifiers for B3GAT1 Gene
The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
GeneCards Summary for B3GAT1 Gene
B3GAT1 (Beta-1,3-Glucuronyltransferase 1) is a Protein Coding gene. Diseases associated with B3GAT1 include Renal Adenoma and Natural Killer Cell Leukemia. Among its related pathways are Defective B4GALT7 causes EDS, progeroid type and heparan sulfate biosynthesis. GO annotations related to this gene include UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity and galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity. An important paralog of this gene is B3GAT2.
UniProtKB/Swiss-Prot for B3GAT1 Gene
Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR), asialo-fetuin, and asialo-neural cell adhesion molecule. Requires sphingomyelin for activity: stearoyl-sphingomyelin was the most effective, followed by palmitoyl-sphingomyelin and lignoceroyl-sphingomyelin. Activity was demonstrated only for sphingomyelin with a saturated fatty acid and not for that with an unsaturated fatty acid, regardless of the length of the acyl group (By similarity).