Recombinant Human Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (C1GALT1), partial

1. In addition, we found that Tn-expressing colorectal cancers (CRC) cell lines had either loss-of-function mutations in Cosmc or reversible Tn antigen expression, which was not caused by the deficiency of T-synthase activity PMID: 30115016
2. There was no relationship between rs1047763 and rs1008898 C1GALT1 polymorphisms and susceptibility to IgA nephropathy. (Meta-analysis) PMID: 28636500
3. C1GALT1 modifies O-glycan expression and enhances malignant behaviors in ovarian cancer cells, suggesting that C1GALT1 plays a role in the pathogenesis of ovarian cancer. PMID: 28498248
4. These findings demonstrate that common variation at C1GALT1 influences Gd-IgA1 level in the population, which independently associates with risk of progressive IgA nephropathy, and that the pathogenic importance of changes in IgA1 O-glycosylation may vary between white and Chinese patients with IgA nephropathy PMID: 28209808
5. Polymorphisms near C1galt1 (rs10486157) and its molecular chaperone, Cosmc (rs4825729), were associated with altered composition of the colonic mucosal microbiota in Crohn's disease patients. PMID: 27874308
6. Data indicate that mRNA levels of both core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1) and C1GALT1-specific chaperone 1 protein (C1GALT1C1) determine the rate of secretion of galactose-deficient IgA1 (Gd-IgA1) in IgA1-producing cells. PMID: 28187132
7. The terminal glycosylation of secreted IgA1 was altered in response to TGFbeta1. TGFbeta1 stimulation significantly decreased the mRNA levels of C1GalT1 and Cosmc. TGFbeta1 may be key in controlling the glycosylation of IgA1, in part via the downregulation of C1GalT1 and Cosmc. PMID: 28035353
8. There was no statistically significant difference between the two groups (P > 0.05). The rs1047763 SNP of the C1GALT1 gene probably has no correlation with genetic susceptibility to IgAN in Xinjiang Uyghur people. PMID: 26782518
9. Polymorphisms in the C1GALT1 gene were associated with genetic susceptibility to Uyghur Immunoglobulin A (IgA) nephropathy. PMID: 26125729
10. Overexpression of C1GALT1 enhanced breast cancer cell growth, migration, and invasion in vitro as well as tumor growth in vivo. PMID: 25762620
11. C1GALT1 promotes invasive phenotypes of hepatocellular carcinoma cells by modulating integrin beta1 glycosylation and activity. PMID: 25089569
12. Cosmc and T-synthase are transcriptionally regulated at a basal level by the specificity protein/Kruppel-like transcription factor family of members. PMID: 26063800
13. C1GALT1 overexpression modifies O-glycans on FGFR2 and enhances its phosphorylation to promote the invasive behavior and cancer stem-like property in colon cancer cells. PMID: 24758762
14. Variations in the C1GALT1 gene were found to be associated with Henoch-Schonlein purpura risk. PMID: 23624553
15. Data indicate that cytotoxin associated gene A protein (CagA) promoted the underglycosylation of IgA1, which at least partly attributed to the downregulation of beta1,3-galactosyltransferase (C1GALT1) and its chaperone Cosmc. PMID: 24462875
16. Il-6 and Il-4 reduced galactosylation of the O-glycan substrate directly via decreased expression of the galactosyltransferase C1GalT1 and, indirectly, via increased expression of the sialyltransferase ST6GalNAc-II PMID: 24398680
17. Suppression of core 1 Gal-transferase is associated with reduction of TF and reciprocal increase of Tn, sialyl-Tn and Core 3 glycans in human colon cancer cells. PMID: 23536887
18. High C1GALT1 enhances proliferation of hepatocellular carcinoma cells via modulating MET glycosylation and dimerization. PMID: 23832667
19. The MDR analysis showed a potential interaction of C1GALT1-330G/T (rs1008898) and IL5RA31+197A/G (rs340833) on the susceptibility of IgAN (P<0.001). Gene-gene interaction may have some influence on the susceptibility to IgA nephropathy. PMID: 23190752
20. Data show that the Golgi docking of vesicular complexes (VCs) use different golgins for docking: C2GnT-M-carrying VC (C2GnT-M-VC) utilizes Giantin, whereas C1GalT1-VC employs GM130-GRASP65 complex. PMID: 22988244
21. Down-regulation of C1GalT1 is correlated with breast cancer PMID: 22534569
22. our study suggested that the 1365 G/A polymorphism of the C1GALT1 gene may contribute to Henoch-Schonlein purpura nephritis development PMID: 22544166
23. C1GALT1 polymorphisms influence the risk to develop IgA nephropathy and proteinuria. PMID: 22131235
24. using RNA interfering system targeting the core 1 ss1,3-galactosyltransferase to explore the role of mucin-type carbohydrates in apical endocytic trafficking in human corneal keratinocytes PMID: 22574202
25. Results show that soluble Cosmc directly interacts in a specific manner with denatured, but not native, T-synthase to form a noncovalent and reversible complex that results in the acquisition of T-synthase catalytic activity. PMID: 22416136
26. Results indicate that Cosmc mediates the co-translational activation of C1GalT and that it may prevent the unfavorable aggregation of C1GalT. PMID: 21496458
27. The chaperone activity of Cosmc is specific, does not require ATP in vitro, and is effective toward T-synthase but not another beta-galactosyltransferase PMID: 19923218
28. 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 PMID: 16251947
29. The present study suggested that the polymorphisms of C1GALT1 gene were associated with the genetic susceptibility to IgAN in Chinese population. PMID: 17228361
30. These results suggest that the intracellular dynamics of C1GalT is controlled by its specific molecular chaperon, Cosmc, in association with core 1 synthase activity. PMID: 18061573
31. Lectin staining and blotting experiments confirmed that C1GalTA contributes to the synthesis of Gal-beta1,3-GalNAc in vivo PMID: 18985719
32. Systematic determination of the peptide acceptor preferences for the human UDP-Gal:glycoprotein-alpha-GalNac beta 3-galactosyltransferase (T synthase) are reported. PMID: 19073881
33. The 1365G allele and 1365G/G genotype of C1GalT1 seem to confer susceptibility to IgA nephropathy. PMID: 19229831
34. potential genetic interactions of C1GALT1 and ST6GALNAC2 variants influence IgA1 O-glycosylation, disease predisposition, and disease severity, and may contribute to the polygenic nature of IgA nephropathy PMID: 19357720
35. Data show that the sequences and O-glycosylation patterns direct the addition of the first and second sugar residues by ppGalNAc-T and C1GalT which act in a site directed fashion. PMID: 19524017
36. knockdown of T-synthase resulted in decreased cell surface O-glycosylation, reduced cell surface galectin-3, and increased epithelial permeability. PMID: 19556244

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HGNC: 24337

OMIM: 610555

KEGG: hsa:56913

STRING: 9606.ENSP00000223122

UniGene: Hs.239666