B3GALNT1

B3GALNT1
Identifiers
AliasesB3GALNT1, B3GALT3, GLCT3, GLOB, Gb4Cer, P1, beta3Gal-T3, galT3, beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
External IDsOMIM: 603094; MGI: 1349405; HomoloGene: 32457; GeneCards: B3GALNT1; OMA:B3GALNT1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

8706

26879

Ensembl

ENSG00000169255

ENSMUSG00000043300

UniProt

O75752

Q920V1

RefSeq (mRNA)

NM_001038628
NM_003781
NM_033167
NM_033168
NM_033169

NM_020026

RefSeq (protein)

NP_064410

Location (UCSC)n/aChr 3: 69.48 – 69.51 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 is an enzyme that in humans is encoded by the B3GALNT1 gene.

This 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-acetylgalactosamine) 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.