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Gene Review

B3GALT1  -  UDP-Gal:betaGlcNAc beta 1,3...

Homo sapiens

Synonyms: Beta-1,3-GalTase 1, Beta-1,3-galactosyltransferase 1, Beta3Gal-T1, Beta3GalT1, UDP-galactose:beta-N-acetyl-glucosamine-beta-1,3-galactosyltransferase 1, ...
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Disease relevance of B3GALT1

  • beta 1,3-Galactosyltransferase beta 3Gal-T5 acts on the GlcNAcbeta 1-->3Galbeta 1-->4GlcNAcbeta 1-->R sugar chains of carcinoembryonic antigen and other N-linked glycoproteins and is down-regulated in colon adenocarcinomas [1].
  • These results indicate that non-mammary apomucin expression could be responsible, at least in part, for Tn antigen expression in MCF-7 breast cancer cells due to a combined action on glycosyltransferases: an increase of ppGalNAc-T activity and a decrease of core 1 beta3Gal-T activity [2].
  • Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hematologic disorder that resembles in several aspects the Tn-syndrome, in which bone marrow-derived cells are deficient in mucin-type beta 1,3 galactosyltransferase (beta 1,3Gal-T) due to the persistent repression of an intact allele [3].
  • Our results indicate that measuring GM1 synthase (beta-1,3 galactosyltransferase) mRNA may provide a useful method for segregating GBMs from other types of gliomas [4].
  • The purpose of this study was to investigate which beta3Gal-T is related to the synthesis of CA 19-9 in human pancreatic cancer tissues [5].

High impact information on B3GALT1

  • In addition, a sialylated epitope on CD43 (leukosialin), which is present on normal but not on beta 3Gal-T-deficient T cells, was also reexpressed [6].
  • A human hematopoietic disorder designated as Tn syndrome or permanent mixed-field polyagglutinability has been ascribed to a stem cell mutation leading to a specific deficiency of UDP-Gal:GalNAc alpha 1-O-Ser/Thr beta 1-3 galactosyltransferase (beta 3 Gal-T) activity in affected cells [6].
  • Flow cytometry revealed that a single treatment induced de novo expression of the Thomsen-Friedenreich antigen (Gal beta 1-3GalNAc-R), the product of beta 3Gal-T activity [6].
  • To test for the possibility that an allele of the beta 3Gal-T gene might be repressed instead of mutated, we have investigated whether 5-azacytidine or sodium n-butyrate, both inducers of gene expression, would reactivate expression of beta 3Gal-T in cloned enzyme-deficient T cells derived from a patient affected by the Tn syndrome [6].
  • We report here that C1beta3Gal-T activity requires expression of a molecular chaperone designated Cosmc (core 1 beta3-Gal-T-specific molecular chaperone) [7].

Biological context of B3GALT1


Anatomical context of B3GALT1


Associations of B3GALT1 with chemical compounds

  • In the clone expressing Fuc-TIII and beta3Gal-T5 (CHO-FT-T5), sialyl-Lewis a synthesis is strongly inhibited by swainsonine but not by benzyl-alpha-GalNAc, and sialyl-Lewis x is absent, although it is detected in the clones expressing Fuc-TIII and beta3Gal-T1 (CHO-FT-T1) or Fuc-TIII and beta3Gal-T2 (CHO-FT-T2) [1].
  • Two beta1,3galactosyltransferases are detected in human colon cells: one corresponds to beta3GalT1, the other (beta3GalTx) is found to be different from any cloned beta3GalT since in vitro it utilizes GlcNAc very efficiently under specific reaction conditions [14].
  • In addition, the MUC6-Tn glycopeptide was a poor acceptor substrate for core 1 beta3Gal-T, the next enzyme involved in the saccharide chain biosynthesis, yielding only 5% conversion of MUC6-Tn into MUC6-TF [2].
  • Three glycosyltransferase activities were determined in lysates from these clones: all Tn+ clones were deficient in UDP-Gal: GalNAc alpha 1-O-Ser/Thr beta 1----3 galactosyltransferase (beta 3Gal-T) activity; by contrast this activity was present in all lysates from TF-expressing clones [15].
  • Substantial increases (2.7-2.9-fold) in the activity of GD1b/GM1a synthase (beta-1,3-galactosyltransferase), which initiates the synthesis of CbG and CaG, accompanied the all-trans retinoic acid (ATRA)-induced ganglioside changes [16].

Other interactions of B3GALT1

  • Expression of two of these genes in the Baculo virus system showed that one represented a UDP-galactose:beta-N-acetyl-glucosamine beta-1, 3-galactosyltransferase (beta3Gal-T2) with similar kinetic properties as beta3Gal-T1 [8].
  • Northern analysis of mRNA from human organs with the four homologous cDNA revealed different expression patterns. beta3Gal-T1 mRNA was expressed in brain, beta3Gal-T2 was expressed in brain and heart, and beta3Gal-T3 and -T4 were more widely expressed [8].
  • The common O-glycan core structure in animal glycoproteins is the core 1 disaccharide Galbeta1-3GalNAcalpha1-Ser/Thr, which is generated by the addition of Gal to GalNAcalpha1-Ser/Thr by core 1 UDP-alpha-galactose (UDP-Gal):GalNAcalpha1-Ser/Thr beta1,3-galactosyltransferase (core 1 beta3-Gal-T or T-synthase, EC2.4.1.122) [17].
  • Leucocyte beta 1,3 galactosyltransferase activity in IgA nephropathy [11].
  • The largest differences in expression were observed for vimentin (94-fold increase), meningioma-expressed antigen 6 (48-fold increase), serine/threonine protein phosphatase 2A (40-fold increase), and beta-1,3-galactosyltransferase (15-fold increase) [18].

Analytical, diagnostic and therapeutic context of B3GALT1


  1. beta 1,3-Galactosyltransferase beta 3Gal-T5 acts on the GlcNAcbeta 1-->3Galbeta 1-->4GlcNAcbeta 1-->R sugar chains of carcinoembryonic antigen and other N-linked glycoproteins and is down-regulated in colon adenocarcinomas. Salvini, R., Bardoni, A., Valli, M., Trinchera, M. J. Biol. Chem. (2001) [Pubmed]
  2. Molecular basis of incomplete O-glycan synthesis in MCF-7 breast cancer cells: putative role of MUC6 in Tn antigen expression. Freire, T., Bay, S., von Mensdorff-Pouilly, S., Osinaga, E. Cancer Res. (2005) [Pubmed]
  3. Differences in the regulation of specific glycosylation in the pathogenesis of paroxysmal nocturnal hemoglobinuria and the Tn-syndrome. Thurnher, M., Fehr, J., Berger, E.G. Exp. Hematol. (1994) [Pubmed]
  4. Diagnostic and prognostic value of glycosyltransferase mRNA in glioblastoma multiforme patients. Oblinger, J.L., Pearl, D.K., Boardman, C.L., Saqr, H., Prior, T.W., Scheithauer, B.W., Jenkins, R.B., Burger, P.C., Yates, A.J. Neuropathol. Appl. Neurobiol. (2006) [Pubmed]
  5. Association between expression levels of CA 19-9 and N-acetylglucosamine-beta;1,3-galactosyltransferase 5 gene in human pancreatic cancer tissue. Hayashi, N., Nakamori, S., Okami, J., Nagano, H., Dono, K., Umeshita, K., Sakon, M., Narimatsu, H., Monden, M. Pathobiology (2004) [Pubmed]
  6. Persistent repression of a functional allele can be responsible for galactosyltransferase deficiency in Tn syndrome. Thurnher, M., Rusconi, S., Berger, E.G. J. Clin. Invest. (1993) [Pubmed]
  7. A unique molecular chaperone Cosmc required for activity of the mammalian core 1 beta 3-galactosyltransferase. Ju, T., Cummings, R.D. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  8. 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. Amado, M., Almeida, R., Carneiro, F., Levery, S.B., Holmes, E.H., Nomoto, M., Hollingsworth, M.A., Hassan, H., Schwientek, T., Nielsen, P.A., Bennett, E.P., Clausen, H. J. Biol. Chem. (1998) [Pubmed]
  9. Cloning, expression, and characterization of a novel UDP-galactose:beta-N-acetylglucosamine beta1,3-galactosyltransferase (beta3Gal-T5) responsible for synthesis of type 1 chain in colorectal and pancreatic epithelia and tumor cells derived therefrom. Isshiki, S., Togayachi, A., Kudo, T., Nishihara, S., Watanabe, M., Kubota, T., Kitajima, M., Shiraishi, N., Sasaki, K., Andoh, T., Narimatsu, H. J. Biol. Chem. (1999) [Pubmed]
  10. Mucin synthesis and secretion in relation to spontaneous differentiation of colon cancer cells in vitro. Niv, Y., Byrd, J.C., Ho, S.B., Dahiya, R., Kim, Y.S. Int. J. Cancer (1992) [Pubmed]
  11. Leucocyte beta 1,3 galactosyltransferase activity in IgA nephropathy. Allen, A.C., Topham, P.S., Harper, S.J., Feehally, J. Nephrol. Dial. Transplant. (1997) [Pubmed]
  12. Beta-1,3-galactosyltransferase and alpha-1,2-fucosyltransferase involved in the biosynthesis of type-1-chain carbohydrate antigens in human colon adenocarcinoma cell lines. Valli, M., Gallanti, A., Bozzaro, S., Trinchera, M. Eur. J. Biochem. (1998) [Pubmed]
  13. Pathogenesis of IgA nephropathy. Feehally, J., Allen, A.C. Annales de médecine interne. (1999) [Pubmed]
  14. Differential expression of beta1,3galactosyltransferases in human colon cells derived from adenocarcinomas or normal mucosa. Bardoni, A., Valli, M., Trinchera, M. FEBS Lett. (1999) [Pubmed]
  15. T cell clones with normal or defective O-galactosylation from a patient with permanent mixed-field polyagglutinability. Thurnher, M., Clausen, H., Fierz, W., Lanzavecchia, A., Berger, E.G. Eur. J. Immunol. (1992) [Pubmed]
  16. Alterations in neuroblastoma ganglioside synthesis by induction of GD1b synthase by retinoic acid. Hettmer, S., McCarter, R., Ladisch, S., Kaucic, K. Br. J. Cancer (2004) [Pubmed]
  17. Identification of core 1 O-glycan T-synthase from Caenorhabditis elegans. Ju, T., Zheng, Q., Cummings, R.D. Glycobiology (2006) [Pubmed]
  18. Proteome analysis of human monocytic THP-1 cells primed with oxidized low-density lipoproteins. Kang, J.H., Kim, H.T., Choi, M.S., Lee, W.H., Huh, T.L., Park, Y.B., Moon, B.J., Kwon, O.S. Proteomics (2006) [Pubmed]
  19. Molecular cloning and characterization of a novel UDP-Gal:GalNAc(alpha) peptide beta 1,3-galactosyltransferase (C1Gal-T2), an enzyme synthesizing a core 1 structure of O-glycan. Kudo, T., Iwai, T., Kubota, T., Iwasaki, H., Takayma, Y., Hiruma, T., Inaba, N., Zhang, Y., Gotoh, M., Togayachi, A., Narimatsu, H. J. Biol. Chem. (2002) [Pubmed]
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