B3GALNT1

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)
Identifiers
Symbols B3GALNT1 ; B3GALT3; GLCT3; GLOB; Gb4Cer; P; P1; beta3Gal-T3; galT3
External IDs OMIM603094 MGI1349405 HomoloGene32457 GeneCards: B3GALNT1 Gene
EC number 2.4.1.79
RNA expression pattern
PBB GE B3GALNT1 211812 s at tn.png
PBB GE B3GALNT1 211379 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8706 26879
Ensembl ENSG00000169255 ENSMUSG00000043300
UniProt O75752 Q920V1
RefSeq (mRNA) NM_001038628 NM_020026
RefSeq (protein) NP_001033717 NP_064410
Location (UCSC) Chr 3:
160.8 – 160.82 Mb
Chr 3:
69.57 – 69.6 Mb
PubMed search [1] [2]

UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 is an enzyme that in humans is encoded by the B3GALNT1 gene.[1][2][3]

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.[3]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)". 

Further reading[edit]