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C1GALT1C1  -  C1GALT1-specific chaperone 1

Homo sapiens

Synonyms: C1GALT2, C1Gal-T2, C1GalT2, C38H2-L1, C38H2-like protein 1, ...
 
 
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Disease relevance of C1GALT1C1

  • Statistical analysis also indicated that the level of Cosmc expression was negatively correlated with severe proteinuria (P<0.05) instead of gross haematuria (P>0.05) [1].
 

High impact information on C1GALT1C1

  • Expression of Cosmc cDNA in Jurkat cells restored C1beta3Gal-T activity and T antigen expression [2].
  • We report here that C1beta3Gal-T activity requires expression of a molecular chaperone designated Cosmc (core 1 beta3-Gal-T-specific molecular chaperone) [2].
  • Overexpression of active C1beta3Gal-T in mammalian cell lines also requires coexpression of Cosmc, indicating that endogenous Cosmc may be limiting [2].
  • The human lymphoblastoid T cell line Jurkat, which lacks C1beta3Gal-T activity and expresses the Tn antigen GalNAcalpha1-SerThr, contains a normal gene and mRNA encoding C1beta3Gal-T, but contains a mutated Cosmc with a deletion introducing a premature stop codon [2].
  • The deduced amino acid sequence of C1Gal-T2, having 26% homology to C1Gal-T1, showed a topology typical of a type II membrane protein [3].
 

Biological context of C1GALT1C1

  • We isolated a second candidate for core 1 synthase from a Colo205 cDNA library and named it C1Gal-T2 [3].
  • These data suggested that the aberrant IgA O-glycosylation in IgAN was resulted from a downregulation of beta1,3GT chaperone (Cosmc) expression in B lymphocyte, which is closely associated with clinical characteristics of the disease [1].
  • The current study was carried out to elucidate the expression level of beta1,3GT (C1GALT1) and its chaperone (Cosmc) in IgAN, and their relationships with clinical features as well as IgA glycosylation level [1].
  • B-lymphocyte Cosmc gene expression level was significantly lower in IgAN patients than that of normal control and non-IgAN patients (P<0.05), whilst no apparent disparity was observed in C1GALT1 expression level [1].
  • Here we show that Tn syndrome is associated with a somatic mutation in Cosmc, a gene on the X chromosome that encodes a molecular 'chaperone' that is required for the proper folding and hence full activity of T-synthase [4].
 

Anatomical context of C1GALT1C1

 

Other interactions of C1GALT1C1

  • Correlation analysis was performed between C1GALT1/Cosmc expression levels and clinical manifestations (severe proteinuria, renal dysfunction, gross haematuria) [1].
 

Analytical, diagnostic and therapeutic context of C1GALT1C1

References

  1. Peripheral B lymphocyte beta1,3-galactosyltransferase and chaperone expression in immunoglobulin A nephropathy. Qin, W., Zhou, Q., Yang, L.C., Li, Z., Su, B.H., Luo, H., Fan, J.M. J. Intern. Med. (2005) [Pubmed]
  2. 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]
  3. 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]
  4. Protein glycosylation: chaperone mutation in Tn syndrome. Ju, T., Cummings, R.D. Nature (2005) [Pubmed]
 
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