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EXTL1  -  exostosin-like glycosyltransferase 1

Homo sapiens

Synonyms: EXTL, Exostosin-L, Exostosin-like 1, Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, MGC70794, ...
 
 
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Disease relevance of EXTL1

 

Psychiatry related information on EXTL1

  • Ninety-two female nursing students, 56 at entry (ENTL) to and 36 at exit (EXTL) from the baccalaureate program, participated in an investigation of the relationship between sex-role identity and image of nursing [3].
 

High impact information on EXTL1

  • Neither EXTL1 nor EXTL3 showed any glucuronyltransferase activity as examined with N-acetylheparosan oligosaccharides [4].
  • Three highly homologous EXT-like genes, EXTL1-EXTL3, have been cloned, and EXTL2 is an alpha1,4-GlcNAc transferase I, the key enzyme that initiates the HS/Hep synthesis [4].
  • In the present study, truncated forms of EXTL1 and EXTL3, lacking the putative NH2-terminal transmembrane and cytoplasmic domains, were transiently expressed in COS-1 cells and found to harbor alpha-GlcNAc transferase activity [4].
  • Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis [4].
  • Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family [5].
 

Biological context of EXTL1

  • Deletions of the chromosome region 1p36.1, including the EXTL1 gene, were detected in several neuroblastoma cell lines and primary tumours [1].
  • In addition, we determined the genomic structure of the EXTL1 gene, revealing that the EXTL1 coding sequence spans 11 exons within a 50-kb region [2].
  • This gene, EXTL (for EXT-like), is therefore a new member of the EXT gene family and is a potential candidate for several disease phenotypes [5].
 

Associations of EXTL1 with chemical compounds

  • UDP-N-acetylhexosamines bind to EXTL2 with a high affinity in both solutions, resulting in a relatively large increase of entropy, whereas the weak binding of UDP-galactose and -glucose, which occurred only in D2O solution, only slightly increased entropy [6].
 

Other interactions of EXTL1

  • No disease-related mutation has been found in either EXTL1 or EXTL2, although one polymorphism has been detected in EXTL1 [7].
  • However, in situ hybridization of sectioned embryos revealed remarkable differences in expression profiles of EXT1, EXT2, and EXTL1 [8].
  • In this study, we show that the EXTL1 gene is located between the genetic markers D1S511 and D1S234 within 200 kb of the LAP18 gene on chromosome 1p36 [2].

References

  1. Molecular analysis of the putative tumour-suppressor gene EXTL1 in neuroblastoma patients and cell lines. Mathysen, D., Van Roy, N., Van Hul, W., Laureys, G., Ambros, P., Speleman, F., Wuyts, W. Eur. J. Cancer (2004) [Pubmed]
  2. Refined physical mapping and genomic structure of the EXTL1 gene. Wuyts, W., Spieker, N., Van Roy, N., De Boulle, K., De Paepe, A., Willems, P.J., Van Hul, W., Versteeg, R., Speleman, F. Cytogenet. Cell Genet. (1999) [Pubmed]
  3. Sex-role identity and image of nursing of females at two levels of baccalaureate nursing education. Till, T.S. Nursing research. (1980) [Pubmed]
  4. Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis. Kim, B.T., Kitagawa, H., Tamura , J., Saito, T., Kusche-Gullberg, M., Lindahl, U., Sugahara, K. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  5. Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. Wise, C.A., Clines, G.A., Massa, H., Trask, B.J., Lovett, M. Genome Res. (1997) [Pubmed]
  6. Two-step mechanism that determines the donor binding specificity of human UDP-N-acetylhexosaminyltransferase. Sobhany, M., Dong, J., Negishi, M. J. Biol. Chem. (2005) [Pubmed]
  7. Mutation analysis of hereditary multiple exostoses in the Chinese. Xu, L., Xia, J., Jiang, H., Zhou, J., Li, H., Wang, D., Pan, Q., Long, Z., Fan, C., Deng, H.X. Hum. Genet. (1999) [Pubmed]
  8. EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis. Stickens, D., Brown, D., Evans, G.A. Dev. Dyn. (2000) [Pubmed]
 
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