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Gene information for B3GALNT1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID8706
Official gene symbolB3GALNT1
Full namebeta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
Aliases,B3GALT3,GLCT3,GLOB,Gb4Cer,P,P1,beta3Gal-T3,galT3,
Gene summaryThis gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. Multiple transcript variants that are alternatively spliced in the 5' UTR have been described; they all encode the same protein. [provided by RefSeq]
LocationChromosome: 3   Locus: 3q25
Gene position160823160 - 160801671  Map Viewer
Gene orientationminus
Gene size21490 bp
Gene sequence
OMIM ID603094