Beta1,3-N-Acetylgalactosaminyltransferase 1 (B3GALNT1)

  • Koichi Honke
Reference work entry


Globoside (globotetraosylceramide, Gb4, GalNAcβl-3Galαl-4Galβ1-4G1c-Cer), a globo-series glycosphingolipid member, is also known as the P antigen in the P histo-blood group system and synthesized by the addition of GalNAc in β-l,3-linkage to the terminal Gal residue of globotriaosylceramide (Gb3). This reaction is catalyzed by UDP-GalNAc: β-1,3-N-acetylgalactosaminyltransferase 1 (B3GALNT1). This enzyme is also called globoside synthase. This gene was first isolated as a β-1,3-galactosyltransferase by using sequence homology from human (Amado et al. 1998) and mouse (Hennet et al. 1998) and termed B3GALT3. Subsequently the genuine β-1,3-N-acetylgalactosaminyltransferase activity was identified by using expression cloning (Okajima et al. 2000), and thereby the gene was renamed as B3GALNT1. This gene was also isolated as a homologue of the Drosophila brainiac gene (Vollrath et al. 2001). Disruption of the B3galnt3 gene in mouse showed embryonic lethality (Vollrath et al. 2001), in which finding suggests that B3GALNT1 has a dual function considering that the Gb3 synthase (A4GALT) knockout mouse that systemically lacks all the globo-series glycosphingolipids is normally born (Okuda et al. 2006).


Embryonic Lethality Expression Cloning Human Erythrocyte Membrane Anomeric Configuration Glycolipid Fraction 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  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 (1998) A family of human β3-galactosyltransferases. Characterization of four members of a UDP-galactose: β-N-acetyl-glucosamine/β-N-acetyl-galactosamine β-1,3-galactosyltransferase family. J Biol Chem 273:12770–12778PubMedCrossRefGoogle Scholar
  2. Edén CS, Freter R, Hagberg L, Hull R, Hull S, Leffler H, Schoolnik G (1982) Inhibition of experimental ascending urinary tract infection by an epithelial cell-surface receptor analogue. Nature 298:560–562PubMedCrossRefGoogle Scholar
  3. Furukawa K, Iwamura K, Uchikawa M, Sojka BN, Wiels J, Okajima T, Urano T, Furukawa K (2000) Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the α1,4-galactosyltransferase gene in Swedish and Japanese individuals. J Biol Chem 275:37752–37756PubMedCrossRefGoogle Scholar
  4. Hakomori S, Siddiqui B, Li Y-T, Li S-C, Hellerqvist CG (1971) Anomeric structures of “globoside” and ceramide trihexoside of human erythrocytes and “BHK” fibroblasts. J Biol Chem 246:2271–2277PubMedGoogle Scholar
  5. Hellberg A, Poole J, Olsson ML (2002) Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-β-N-acetylgalactosaminyltransferase gene. J Biol Chem 277:29455–29459PubMedCrossRefGoogle Scholar
  6. Hennet T, Dinter A, Kuhnert P, Mattu TS, Rudd PM, Berger EG (1998) Genomic cloning and expression of three murine UDP-galactose: β-N-acetyl-glucosamine β-1,3-galactosyltransferase genes. J Biol Chem 273:58–65PubMedCrossRefGoogle Scholar
  7. Ishibashi T, Kijimoto S, Makita A (1974) Biosynthesis of globoside and Forssman hapten from trihexosylceramide and properties of β-N-acetylgalactosaminyltransferase of guinea pig kidney. Biochim Biophys Acta 337:92–106PubMedCrossRefGoogle Scholar
  8. Iwamura K, Furukawa K, Uchikawa M, Sojka BN, Kojima Y, Wiels J, Shiku H, Urano T, Furukawa K (2003) The blood group P1 synthase gene is identical to the Gb3/CD77 synthase gene. A clue to the solution of the P1/P2/p puzzle. J Biol Chem 278:44429–44438PubMedCrossRefGoogle Scholar
  9. Källenius G, Svenson S, Möllby R, Cedergren B, Hultberg H, Winberg J (1981) Structure of carbohydrate part of receptor on human uroepithelial cells for pyelonephritogenic Escherichia coli. Lancet 2:604–606PubMedCrossRefGoogle Scholar
  10. Kawanami J, Tsuji T (1971) Structure of the oligosaccharides from mammalian glycolipids. Chem Phys Lipids 7:49–60PubMedCrossRefGoogle Scholar
  11. Kijimoto-Ochiai S, Naiki M, Makita A (1977) Defects of glycosyltransferase activities in human fibroblasts of Pk and p blood group phenotypes. Proc Natl Acad Sci USA 74:5407–5410PubMedCrossRefGoogle Scholar
  12. Klenk E, Lauenstein K (1951) Uber die zucherhaltigen Lipoide der Formbestandteile des menschlichen Blutes. Hoppe-Seyler’s Z Physiol Chem 288:220–228PubMedGoogle Scholar
  13. Kondo Y, Ikeda K, Tokuda N, Nishitani C, Ohto U, Akashi-Takamura S, Ito Y, Uchikawa M, Kuroki Y, Taguchi R, Miyake K, Zhang Q, Furukawa K, Furukawa K (2013) TLR4-MD-2 complex is negatively regulated by an endogenous ligand, globotetraosylceramide. Proc Natl Acad Sci USA 110:4714–4719PubMedCrossRefGoogle Scholar
  14. Landsteiner K, Levine P (1927) Further observations on individual differences of human blood. Proc Soc Exp Biol NY 24:941–942CrossRefGoogle Scholar
  15. Matoson GA, Swanson J, Noades J, Sanger R, Race RR (1959) A “new” antigen and antibody belonging to the P blood group system. Am J Hum Genet 11:26–34Google Scholar
  16. Naiki M, Marcus DM (1974) Human erythrocyte P and Pk blood group antigens: identification as glycosphingolipids. Biochem Biophys Res Commun 60:1105–1111PubMedCrossRefGoogle Scholar
  17. Naiki M, Marcus DM (1975) An immunochemical study of the human blood group P1, P, and Pk glycosphingolipid antigens. Biochemistry 14:4837–4841PubMedCrossRefGoogle Scholar
  18. Okajima T, Nakamura Y, Uchikawa M, Haslam DB, Numata S, Furukawa K, Urano T, Furukawa K (2000) Expression cloning of human globoside synthase cDNAs. Identification of β3Gal-Ts as UDP-N-acetylgalactosamine:globotriaosylceramide β1,3-N-acetylgalactosaminyltransferase. J Biol Chem 275:40498–40503PubMedCrossRefGoogle Scholar
  19. Okuda T, Tokuda N, Numata S, Ito M, Ohta M, Kawamura K, Wiels J, Urano T, Tajima O, Furukawa K, Furukawa K (2006) Targeted disruption of Gb3/CD77 synthase gene resulted in the complete deletion of globo-series glycosphingolipids and loss of sensitivity to verotoxins. J Biol Chem 281:10230–10235PubMedCrossRefGoogle Scholar
  20. Steffensen R, Carlier K, Wiels J, Levery SB, Stroud M, Cedergren B, Nilsson Sojka B, Bennett EP, Jersild C, Clausen H (2000) Cloning and expression of the histo-blood group Pk UDP-galactose:Ga1β1-4G1cβ1-cer α1,4-galactosyltransferase. Molecular genetic basis of the p phenotype. J Biol Chem 275:16723–16729PubMedCrossRefGoogle Scholar
  21. Thuresson B, Westman JS, Olsson ML (2011) Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups. Blood 117:678–687PubMedCrossRefGoogle Scholar
  22. Vollrath B, Fitzgerald KJ, Leder P (2001) A murine homologue of the Drosophila brainiac gene shows homology to glycosyltransferases and is required for preimplantation development of the mouse. Mol Cell Biol 21:5688–5697PubMedCentralPubMedCrossRefGoogle Scholar
  23. Yamakawa T, Suzuki S (1952) The chemistry of the lipids of posthemolytic residue or stroma of erythrocytes: III. Globoside, the sugar-containing lipid of human blood stroma. J Biochem 39:393–402Google Scholar
  24. Yamakawa T, Yokoyam S, Kiso N (1962) Structure of main globoside of human erythrocytes. J Biochem 52:228–229PubMedGoogle Scholar
  25. Yamakawa T, Nishimura S, Kamimura M (1965) The chemistry of the lipids of posthemolytic residue or stroma of erythrocytes: VIII. Further studies on human red cell glycolipids. Jpn J Exp Med 35:201–207PubMedGoogle Scholar

Copyright information

© Springer Japan 2014

Authors and Affiliations

  1. 1.Department of BiochemistryKochi Universirty Medical SchoolNankokuJapan

Personalised recommendations