B3GALNT1

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B3GALNT1
Identifiers
Aliases B3GALNT1, B3GALT3, GLCT3, GLOB, Gb4Cer, P, P1, beta3Gal-T3, galT3, beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
External IDs MGI: 1349405 HomoloGene: 32457 GeneCards: B3GALNT1
RNA expression pattern
PBB GE B3GALNT1 211812 s at fs.png

PBB GE B3GALNT1 211379 x at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001038628
NM_003781
NM_033167
NM_033168
NM_033169

NM_020026

RefSeq (protein)

NP_064410.1
NP_064410

Location (UCSC) Chr 3: 161.08 – 161.11 Mb Chr 3: 69.57 – 69.6 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 is an enzyme that in humans is encoded by the B3GALNT1 gene.[3][4][5]

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-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.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Amado M, Almeida R, Carneiro F, Levery SB, Holmes EH, Nomoto M, Hollingsworth MA, Hassan H, Schwientek T, Nielsen PA, Bennett EP, Clausen H (Jun 1998). "A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine beta-1,3-galactosyltransferase family". J Biol Chem. 273 (21): 12770–8. doi:10.1074/jbc.273.21.12770. PMID 9582303. 
  4. ^ Okajima T, Nakamura Y, Uchikawa M, Haslam DB, Numata SI, Furukawa K, Urano T, Furukawa K (Jan 2001). "Expression cloning of human globoside synthase cDNAs. Identification of beta 3Gal-T3 as UDP-N-acetylgalactosamine:globotriaosylceramide beta 1,3-N-acetylgalactosaminyltransferase". J Biol Chem. 275 (51): 40498–503. doi:10.1074/jbc.M006902200. PMID 10993897. 
  5. ^ a b "Entrez Gene: B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)". 

External links[edit]

Further reading[edit]