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Gene Review

B3GALNT1  -  beta-1,3-N-acetylgalactosaminyltransferase...

Homo sapiens

Synonyms: B3GALT3, Beta-1,3-GalNAc-T1, Beta-1,3-GalTase 3, Beta-1,3-galactosyltransferase 3, Beta-3-Gx-T3, ...
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Disease relevance of B3GALNT1

  • All bacteria obtained from gallstones agglutinated human O P1 erythrocytes, which reflects the presence of P1-specific fimbriae [1].
  • The transcription of the gal operon of Escherichia coli from two overlapping promoters P1 and P2 is negatively regulated via Gal repressosome assembly [2].
  • A major determinant of neurovirulence for the GDVII strain of Theiler's virus, a murine picornavirus, was mapped to the P1 capsid protein region [3].
  • The P1 glycolipid and hydatid cyst glycoprotein inhibited the agglutination of P1K erythrocytes by anti-P1 and unabsorbed anti-P1PPK sera, but neither antigen inhibited a specific anti-PK serum [4].
  • Immunogenicity of synthetic peptides of Haemophilus influenzae type b outer membrane protein P1 [5].

Psychiatry related information on B3GALNT1

  • 1. The aim of this study was to define the P1 purinergic receptors that regulate spontaneous or adenosine-induced duodenal motor activity [6].

High impact information on B3GALNT1

  • In addition, toxin bound to P1 antigen present in group B human erythrocyte glycolipid extracts [7].
  • The presence of P1 fimbriae and alpha-galactosyl residues and the absence of mannose-specific fimbriae distinguish these organisms from gut flora [1].
  • In support of earlier studies using P1 purinergic antagonists, the application of the knockout technique has shown that adenosine 1 receptors are absolutely required for eliciting TGF responses [8].
  • However, in the presence of GlcNAc, the glmU proximal promoter, P1, is inactive while the upstream promoter, P2, is subject to weak induction [9].
  • Two binding sites for the NagC repressor are located at -200 and -47 bp upstream of P1 [9].

Chemical compound and disease context of B3GALNT1


Biological context of B3GALNT1

  • We conclude that crucial mutations in the globoside synthase gene cause the P(k) phenotype [15].
  • Surprisingly, the cDNA clones turned out to be identical with previously reported beta3Gal-T3, which had been cloned by sequence homology with other galactosyltransferases [16].
  • The biochemistry and molecular genetics underlying the related carbohydrate blood group antigens P, P(k), and LKE in the GLOB collection and P1 in the P blood group system are complex and not fully understood [15].
  • Substitution of adenine by 2-amino purine (2-AP) at the invariable A small middle dotT base pair at the -11 position of P1 and P3 prevented unpairing not only at that position but also at the other downstream positions, suggesting a "master" role of the adenine base at -11 of the template strand in overall base unpairing [17].
  • After potassium permanganate sensitivity of unpaired thymine residues, we studied base unpairing at the -10 region during isomerization upon RNA polymerase binding at the P1 and P3 promoters of the gal operon [17].

Anatomical context of B3GALNT1

  • The globoside synthase gene was expressed in many tissues, such as heart, brain, testis, etc [16].
  • It appears that in adipocytes, P1 3-kinase prevents activation of GAP [18].
  • Preincubation of human granules with calcium, a treatment which totally inactivates the hemolytic and cytotoxic activity of murine lymphocyte granules [perforin 1 (P1)] had no effect on human LAK granule cytotoxicity for nucleated cells [19].
  • In addition, Northern blot analysis of polyadenylated RNA isolated from human LAK cells using a murine P1 complementary DNA probe showed a cross-hybridizing 2.8- to 3.0-kilobase mRNA species identical in size to murine P1 mRNA [19].
  • A series of new azapeptide p-nitrophenyl esters containing a variety of P1 aza-amino acid residues have been synthesized, and the reaction of these azapeptides with chymotrypsin A alpha, subtilisin BPN', subtilisin Carlsberg, and human leukocyte cathepsin G at pH 4-7 has been studied [20].

Associations of B3GALNT1 with chemical compounds

  • Hydrophobic DNA adducts were evident only in smokers, and chromatographic profiles of the adducts were similar using either the butanol extraction or nuclease P1 enhancement method, which suggested that the adducts may be derived from polycyclic aromatic hydrocarbons but not aromatic amines [21].
  • No promoter hypermethylation was observed at the glutathione S-transferase P1 gene promoter [22].
  • Erythrocytes from P1 individuals are shown to contain more globotriaosylceramide and less lactosylceramide than do erythrocytes from P2 individuals [23].
  • In addition, the P1 carbonyl of the ketone inhibitor is pointing into the oxyanion hole and forms a hydrogen bond with the peptidic nitrogen of Gly-122, resulting in a different state compared with the tetrahedral intermediate observed in the structure of ICE and CPP32 in complex with an aldehyde inhibitor [24].
  • Sequence data showed that the cDNAs contained identical 3' ends (1469 base pairs in length) to each other and to that of the human phenol transferase cDNA, HLUG P1 (Harding, D., Fournel-Gigleux, S., Jackson, M. R., and Burchell, B. (1988) Proc. Natl. Acad. Sci. U.S.A. 85, 8381-8385) [25].

Other interactions of B3GALNT1

  • 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 [26].
  • In addition, this assay was shown to be specific, because neither Stx1 nor Stx2 bound to GM3, but both bound weakly to Gb4Cer [27].

Analytical, diagnostic and therapeutic context of B3GALNT1

  • By partial sequence analysis, this protein was identified as the 60 kDa human heat-shock protein (hsp) that is the P1 mitochondrial protein, and which is 50% homologous to the mycobacterial 65 kDa hsp [28].
  • Human LAK granules appear to contain P1 detected as cross-reactive antigen detected by mouse anti-P1 and human anti-C9 in Western blot analysis [19].
  • Calorimetric and circular dichroism methods showed that none of the P1 substitutions, except the P1-Val mutant, lead to destabilisation of the binding loop conformation [29].
  • Rabbit antipeptide antisera were tested for their reactivities with the immunizing peptides and P1 protein by ELISA and immunoblots [5].
  • Treatment of the enzymatic and synthetic bisphosphate adduct with nuclease P1 yielded a product that eluted at the same time from the HPLC (32P-dpG-ABZ) [30].


  1. Differences in outer membrane characteristics between gallstone-associated bacteria and normal bacterial flora. Wetter, L.A., Hamadeh, R.M., Griffiss, J.M., Oesterle, A., Aagaard, B., Way, L.W. Lancet (1994) [Pubmed]
  2. "Antiparallel" DNA loop in gal repressosome visualized by atomic force microscopy. Virnik, K., Lyubchenko, Y.L., Karymov, M.A., Dahlgren, P., Tolstorukov, M.Y., Semsey, S., Zhurkin, V.B., Adhya, S. J. Mol. Biol. (2003) [Pubmed]
  3. Assembly of Theiler's virus recombinants used in mapping determinants of neurovirulence. Pritchard, A.E., Jensen, K., Lipton, H.L. J. Virol. (1993) [Pubmed]
  4. An immunochemical study of the human blood group P1, P, and PK glycosphingolipid antigens. Naiki, M., Marcus, D.M. Biochemistry (1975) [Pubmed]
  5. Immunogenicity of synthetic peptides of Haemophilus influenzae type b outer membrane protein P1. Chong, P., Yang, Y.P., Persaud, D., Haer, M., Tripet, B., Tam, E., Sia, C., Klein, M. Infect. Immun. (1995) [Pubmed]
  6. A2A and A3 receptors mediate the adenosine-induced relaxation in spontaneously active possum duodenum in vitro. Woods, C.M., Toouli, J., Saccone, G.T. Br. J. Pharmacol. (2003) [Pubmed]
  7. Pathogenesis of shigella diarrhea. XI. Isolation of a shigella toxin-binding glycolipid from rabbit jejunum and HeLa cells and its identification as globotriaosylceramide. Jacewicz, M., Clausen, H., Nudelman, E., Donohue-Rolfe, A., Keusch, G.T. J. Exp. Med. (1986) [Pubmed]
  8. Paracrine factors in tubuloglomerular feedback: adenosine, ATP, and nitric oxide. Schnermann, J., Levine, D.Z. Annu. Rev. Physiol. (2003) [Pubmed]
  9. Co-ordinated regulation of amino sugar biosynthesis and degradation: the NagC repressor acts as both an activator and a repressor for the transcription of the glmUS operon and requires two separated NagC binding sites. Plumbridge, J. EMBO J. (1995) [Pubmed]
  10. Tripeptide aldehyde inhibitors of human rhinovirus 3C protease: design, synthesis, biological evaluation, and cocrystal structure solution of P1 glutamine isosteric replacements. Webber, S.E., Okano, K., Little, T.L., Reich, S.H., Xin, Y., Fuhrman, S.A., Matthews, D.A., Love, R.A., Hendrickson, T.F., Patick, A.K., Meador, J.W., Ferre, R.A., Brown, E.L., Ford, C.E., Binford, S.L., Worland, S.T. J. Med. Chem. (1998) [Pubmed]
  11. Avian P1 antigens inhibit agglutination mediated by P fimbriae of uropathogenic Escherichia coli. Johnson, J.R., Swanson, J.L., Neill, M.A. Infect. Immun. (1992) [Pubmed]
  12. Peptidoglycan of Rhodopseudomonas viridis: partial lack of N-acetyl substitution of glucosamine. Schmelzer, E., Weckesser, J., Warth, R., Mayer, H. J. Bacteriol. (1982) [Pubmed]
  13. Purification and partial characterization of the glycine decarboxylase multienzyme complex from Eubacterium acidaminophilum. Freudenberg, W., Andreesen, J.R. J. Bacteriol. (1989) [Pubmed]
  14. Nitrogen metabolism in the facultative methylotroph Arthrobacter P1 grown with various amines or ammonia as nitrogen sources. De Boer, L., Brouwer, J.W., Van Hassel, C.W., Levering, P.R., Dijkhuizen, L. Antonie Van Leeuwenhoek (1989) [Pubmed]
  15. Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene. Hellberg, A., Poole, J., Olsson, M.L. J. Biol. Chem. (2002) [Pubmed]
  16. Expression cloning of human globoside synthase cDNAs. Identification of beta 3Gal-T3 as UDP-N-acetylgalactosamine:globotriaosylceramide beta 1,3-N-acetylgalactosaminyltransferase. Okajima, T., Nakamura, Y., Uchikawa, M., Haslam, D.B., Numata, S.I., Furukawa, K., Urano, T., Furukawa, K. J. Biol. Chem. (2000) [Pubmed]
  17. A "master" in base unpairing during isomerization of a promoter upon RNA polymerase binding. Lim, H.M., Lee, H.J., Roy, S., Adhya, S. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  18. Functional interactions of phosphatidylinositol 3-kinase with GTPase-activating protein in 3T3-L1 adipocytes. DePaolo, D., Reusch, J.E., Carel, K., Bhuripanyo, P., Leitner, J.W., Draznin, B. Mol. Cell. Biol. (1996) [Pubmed]
  19. Isolation and characterization of cytotoxic granules from human lymphokine (interleukin 2) activated killer cells. Lowrey, D.M., Hameed, A., Lichtenheld, M., Podack, E.R. Cancer Res. (1988) [Pubmed]
  20. Reaction of azapeptides with chymotrypsin-like enzymes. New inhibitors and active site titrants for chymotrypsin A alpha, subtilisin BPN', subtilisin Carlsberg, and human leukocyte cathepsin G. Gupton, B.F., Carroll, D.L., Tuhy, P.M., Kam, C.M., Powers, J.C. J. Biol. Chem. (1984) [Pubmed]
  21. Metabolic activation and carcinogen-DNA adduct detection in human larynx. Degawa, M., Stern, S.J., Martin, M.V., Guengerich, F.P., Fu, P.P., Ilett, K.F., Kaderlik, R.K., Kadlubar, F.F. Cancer Res. (1994) [Pubmed]
  22. Gene promoter hypermethylation in tumors and serum of head and neck cancer patients. Sanchez-Cespedes, M., Esteller, M., Wu, L., Nawroz-Danish, H., Yoo, G.H., Koch, W.M., Jen, J., Herman, J.G., Sidransky, D. Cancer Res. (2000) [Pubmed]
  23. P blood group regulation of glycosphingolipid levels in human erythrocytes. Fletcher, K.S., Bremer, E.G., Schwarting, G.A. J. Biol. Chem. (1979) [Pubmed]
  24. Structure of recombinant human CPP32 in complex with the tetrapeptide acetyl-Asp-Val-Ala-Asp fluoromethyl ketone. Mittl, P.R., Di Marco, S., Krebs, J.F., Bai, X., Karanewsky, D.S., Priestle, J.P., Tomaselli, K.J., Grütter, M.G. J. Biol. Chem. (1997) [Pubmed]
  25. A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini. Ritter, J.K., Chen, F., Sheen, Y.Y., Tran, H.M., Kimura, S., Yeatman, M.T., Owens, I.S. J. Biol. Chem. (1992) [Pubmed]
  26. 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]
  27. Kinetic analysis of binding between Shiga toxin and receptor glycolipid Gb3Cer by surface plasmon resonance. Nakajima, H., Kiyokawa, N., Katagiri, Y.U., Taguchi, T., Suzuki, T., Sekino, T., Mimori, K., Ebata, T., Saito, M., Nakao, H., Takeda, T., Fujimoto, J. J. Biol. Chem. (2001) [Pubmed]
  28. Antibodies to the human 60 kDa heat-shock protein in patients with schizophrenia. Kilidireas, K., Latov, N., Strauss, D.H., Gorig, A.D., Hashim, G.A., Gorman, J.M., Sadiq, S.A. Lancet (1992) [Pubmed]
  29. Substitutions at the P(1) position in BPTI strongly affect the association energy with serine proteinases. Grzesiak, A., Helland, R., Smalås, A.O., Krowarsch, D., Dadlez, M., Otlewski, J. J. Mol. Biol. (2000) [Pubmed]
  30. N'-(3'-monophospho-deoxyguanosin-8-yl)-N-acetylbenzidine formation by peroxidative metabolism. Lakshmi, V.M., Zenser, T.V., Davis, B.B. Carcinogenesis (1998) [Pubmed]
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