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Gene Review

XYLT1  -  xylosyltransferase I

Homo sapiens

Synonyms: DBQD2, PXYLT1, Peptide O-xylosyltransferase 1, XT-I, XT1, ...
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Disease relevance of XYLT1


High impact information on XYLT1


Chemical compound and disease context of XYLT1


Biological context of XYLT1

  • A new 3608 bp cDNA fragment encoding a protein of 865 amino acid residues was also isolated by PCR using degenerate primers based on the amino acid sequence of human XT-I [1].
  • The human XT-I gene was located on chromosome 16p13.1 using radiation hybrid mapping, and extracts from CHO-K1 cells transfected with the XT-I cDNA in an expression vector exhibited marked XT activity [1].
  • Our study demonstrates that over 80% of the nucleotide sequence of the XT-I-cDNA is necessary for expressing a recombinant enzyme with full catalytic activity [9].
  • Interestingly, deletion of the single 12 amino acid motif G261KEAISALSRAK272 leads to a loss-of-function XT-I mutant [9].
  • METHODS: We screened all XYLT exons in 65 German PXE patients using denaturing high performance liquid chromatography and analysed the influence of the variations on clinical characteristics [10].

Anatomical context of XYLT1


Associations of XYLT1 with chemical compounds


Other interactions of XYLT1


Analytical, diagnostic and therapeutic context of XYLT1


  1. Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II. Götting, C., Kuhn, J., Zahn, R., Brinkmann, T., Kleesiek, K. J. Mol. Biol. (2000) [Pubmed]
  2. Serum xylosyltransferase: a new biochemical marker of the sclerotic process in systemic sclerosis. Götting, C., Sollberg, S., Kuhn, J., Weilke, C., Huerkamp, C., Brinkmann, T., Krieg, T., Kleesiek, K. J. Invest. Dermatol. (1999) [Pubmed]
  3. Elevated xylosyltransferase I activities in pseudoxanthoma elasticum (PXE) patients as a marker of stimulated proteoglycan biosynthesis. Götting, C., Hendig, D., Adam, A., Schön, S., Schulz, V., Szliska, C., Kuhn, J., Kleesiek, K. J. Mol. Med. (2005) [Pubmed]
  4. Transforming growth factor beta1-regulated xylosyltransferase I activity in human cardiac fibroblasts and its impact for myocardial remodeling. Prante, C., Milting, H., Kassner, A., Farr, M., Ambrosius, M., Schön, S., Seidler, D.G., Banayosy, A.E., Körfer, R., Kuhn, J., Kleesiek, K., Götting, C. J. Biol. Chem. (2007) [Pubmed]
  5. Identification and synthesis of a recognition signal for the attachment of glycosaminoglycans to proteins. Bourdon, M.A., Krusius, T., Campbell, S., Schwartz, N.B., Ruoslahti, E. Proc. Natl. Acad. Sci. U.S.A. (1987) [Pubmed]
  6. Cloning and recombinant expression of active full-length xylosyltransferase I (XT-I) and characterization of subcellular localization of XT-I and XT-II. Schön, S., Prante, C., Bahr, C., Kuhn, J., Kleesiek, K., Götting, C. J. Biol. Chem. (2006) [Pubmed]
  7. Two xyloglucan xylosyltransferases catalyze the addition of multiple xylosyl residues to cellohexaose. Cavalier, D.M., Keegstra, K. J. Biol. Chem. (2006) [Pubmed]
  8. First isolation of human UDP-D-xylose: proteoglycan core protein beta-D-xylosyltransferase secreted from cultured JAR choriocarcinoma cells. Kuhn, J., Götting, C., Schnölzer, M., Kempf, T., Brinkmann, T., Kleesiek, K. J. Biol. Chem. (2001) [Pubmed]
  9. Human xylosyltransferase I and N-terminal truncated forms: functional characterization of the core enzyme. Müller, S., Disse, J., Schöttler, M., Schön, S., Prante, C., Brinkmann, T., Kuhn, J., Kleesiek, K., Götting, C. Biochem. J. (2006) [Pubmed]
  10. Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. Schön, S., Schulz, V., Prante, C., Hendig, D., Szliska, C., Kuhn, J., Kleesiek, K., Götting, C. J. Med. Genet. (2006) [Pubmed]
  11. Xylosyltransferase activity in seminal plasma of infertile men. Götting, C., Kuhn, J., Brinkmann, T., Kleesiek, K. Clin. Chim. Acta (2002) [Pubmed]
  12. Primers of glycosaminoglycan biosynthesis from Peruvian rain forest plants. Taylor, W.H., Sinha, A., Khan, I.A., McDaniel, S.T., Esko, J.D. J. Biol. Chem. (1998) [Pubmed]
  13. Topography of glycosylation and UDP-xylose production. Kearns, A.E., Vertel, B.M., Schwartz, N.B. J. Biol. Chem. (1993) [Pubmed]
  14. Analysis of the DXD motifs in human xylosyltransferase I required for enzyme activity. Götting, C., Müller, S., Schöttler, M., Schön, S., Prante, C., Brinkmann, T., Kuhn, J., Kleesiek, K. J. Biol. Chem. (2004) [Pubmed]
  15. Human xylosyltransferase I: functional and biochemical characterization of cysteine residues required for enzymic activity. Müller, S., Schöttler, M., Schön, S., Prante, C., Brinkmann, T., Kuhn, J., Götting, C., Kleesiek, K. Biochem. J. (2005) [Pubmed]
  16. Decorin core protein secretion is regulated by N-linked oligosaccharide and glycosaminoglycan additions. Seo, N.S., Hocking, A.M., Höök, M., McQuillan, D.J. J. Biol. Chem. (2005) [Pubmed]
  17. Identification of the predominant glycosaminoglycan-attachment site in soluble recombinant human thrombomodulin: potential regulation of functionality by glycosyltransferase competition for serine474. Gerlitz, B., Hassell, T., Vlahos, C.J., Parkinson, J.F., Bang, N.U., Grinnell, B.W. Biochem. J. (1993) [Pubmed]
  18. Effects of covalently attached chondroitin sulfate on aggrecan cleavage by ADAMTS-4 and MMP-13. Miwa, H.E., Gerken, T.A., Hering, T.M. Matrix Biol. (2006) [Pubmed]
  19. Novel sequence variants in the human xylosyltransferase I gene and their role in diabetic nephropathy. Bahr, C., Schön, S., Kuhn, J., Groop, P.H., Parkkonen, M., Wessman, M., Kleesiek, K., Götting, C. Diabet. Med. (2006) [Pubmed]
  20. Golgi-specific localization of transglycosylases engaged in glycoprotein biosynthesis in suspension-cultured cells of sycamore (Acer pseudoplatanus L.). Ali, M.S., Mitsui, T., Akazawa, T. Arch. Biochem. Biophys. (1986) [Pubmed]
  21. Measurement of fibrosis marker xylosyltransferase I activity by HPLC electrospray ionization tandem mass spectrometry. Kuhn, J., Prante, C., Sch??n, S., G??tting, C., Kleesiek, K. Clin. Chem. (2006) [Pubmed]
  22. Partial purification of Golgi-bound arabinosyltransferase and two isoforms of xylosyltransferase from French bean (Phaseolus vulgaris L.). Rodgers, M.W., Bolwell, G.P. Biochem. J. (1992) [Pubmed]
  23. Molecular cloning and functional expression of beta1, 2-xylosyltransferase cDNA from Arabidopsis thaliana. Strasser, R., Mucha, J., Mach, L., Altmann, F., Wilson, I.B., Glössl, J., Steinkellner, H. FEBS Lett. (2000) [Pubmed]
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