Property Summary

NCBI Gene PubMed Count 42
PubMed Score 57.36
PubTator Score 45.96

Knowledge Summary

Patent

No data available

Expression

Protein-protein Interaction (13)

Gene RIF (34)

PMID Text
26125729 Polymorphisms in the C1GALT1 gene were associated with genetic susceptibility to Uyghur Immunoglobulin A (IgA) nephropathy.
26063800 Cosmc and T-synthase are transcriptionally regulated at a basal level by the specificity protein/Kruppel-like transcription factor family of members.
25762620 Overexpression of C1GALT1 enhanced breast cancer cell growth, migration, and invasion in vitro as well as tumor growth in vivo.
25089569 C1GALT1 promotes invasive phenotypes of hepatocellular carcinoma cells by modulating integrin beta1 glycosylation and activity.
24840470 Using qRT-PCR, sialyl-Tn expression was found to be associated with an increase in alpha2,6-sialyltransferase gene (ST6GALNAC1) and a decrease in core 1 synthase gene (C1GALT1) in LS174T cells.
24758762 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.
24462875 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.
24398680 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
23832667 High C1GALT1 enhances proliferation of hepatocellular carcinoma cells via modulating MET glycosylation and dimerization.
23624553 Variations in the C1GALT1 gene were found to be associated with Henoch-Schonlein purpura risk.
23536887 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.
23190752 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.
22988244 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.
22574202 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
22544166 our study suggested that the 1365 G/A polymorphism of the C1GALT1 gene may contribute to Henoch-Schonlein purpura nephritis development
22534569 Down-regulation of C1GalT1 is correlated with breast cancer
22416136 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.
22131235 C1GALT1 polymorphisms influence the risk to develop IgA nephropathy and proteinuria.
21496458 Results indicate that Cosmc mediates the co-translational activation of C1GalT and that it may prevent the unfavorable aggregation of C1GalT.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19923218 The chaperone activity of Cosmc is specific, does not require ATP in vitro, and is effective toward T-synthase but not another beta-galactosyltransferase
19556244 knockdown of T-synthase resulted in decreased cell surface O-glycosylation, reduced cell surface galectin-3, and increased epithelial permeability.
19524017 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.
19357720 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
19357720 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19229831 The 1365G allele and 1365G/G genotype of C1GalT1 seem to confer susceptibility to IgA nephropathy.
19229831 Observational study of gene-disease association. (HuGE Navigator)
19073881 Systematic determination of the peptide acceptor preferences for the human UDP-Gal:glycoprotein-alpha-GalNac beta 3-galactosyltransferase (T synthase) are reported.
18985719 Lectin staining and blotting experiments confirmed that C1GalTA contributes to the synthesis of Gal-beta1,3-GalNAc in vivo
18840896 Observational study of gene-disease association. (HuGE Navigator)
18061573 These results suggest that the intracellular dynamics of C1GalT is controlled by its specific molecular chaperon, Cosmc, in association with core 1 synthase activity.
17228361 Observational study of gene-disease association. (HuGE Navigator)
17228361 The present study suggested that the polymorphisms of C1GALT1 gene were associated with the genetic susceptibility to IgAN in Chinese population.
16251947 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

AA Sequence

MASKSWLNFLTFLCGSAIGFLLCSQLFSILLGEKVDTQPNVLHNDPHARHSDDNGQNHLEGQMNFNADSS      1 - 70
QHKDENTDIAENLYQKVRILCWVMTGPQNLEKKAKHVKATWAQRCNKVLFMSSEENKDFPAVGLKTKEGR     71 - 140
DQLYWKTIKAFQYVHEHYLEDADWFLKADDDTYVILDNLRWLLSKYDPEEPIYFGRRFKPYVKQGYMSGG    141 - 210
AGYVLSKEALKRFVDAFKTDKCTHSSSIEDLALGRCMEIMNVEAGDSRDTIGKETFHPFVPEHHLIKGYL    211 - 280
PRTFWYWNYNYYPPVEGPGCCSDLAVSFHYVDSTTMYELEYLVYHLRPYGYLYRYQPTLPERILKEISQA    281 - 350
NKNEDTKVKLGNP                                                             351 - 363
//

Text Mined References (45)

PMID Year Title
26125729 2015 Association between C1GALT1 variants and genetic susceptibility to IgA nephropathy in Uygur.
26063800 2015 Promoters of Human Cosmc and T-synthase Genes Are Similar in Structure, Yet Different in Epigenetic Regulation.
25762620 2015 Up-regulation of C1GALT1 promotes breast cancer cell growth through MUC1-C signaling pathway.
25089569 2014 C1GALT1 promotes invasive phenotypes of hepatocellular carcinoma cells by modulating integrin ?1 glycosylation and activity.
24840470 2014 Comprehensive glycomics comparison between colon cancer cell cultures and tumours: implications for biomarker studies.
24758762 2014 C1GALT1 overexpression promotes the invasive behavior of colon cancer cells through modifying O-glycosylation of FGFR2.
24556642 2014 Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries.
24462875 2014 CagA, a major virulence factor of Helicobacter pylori, promotes the production and underglycosylation of IgA1 in DAKIKI cells.
24398680 2014 Cytokines alter IgA1 O-glycosylation by dysregulating C1GalT1 and ST6GalNAc-II enzymes.
24159190 2014 Genome-wide association study on dimethylarginines reveals novel AGXT2 variants associated with heart rate variability but not with overall mortality.
23832667 2013 C1GALT1 enhances proliferation of hepatocellular carcinoma cells via modulating MET glycosylation and dimerization.
23624553 2013 A study on the association between C1GALT1 polymorphisms and the risk of Henoch-Schönlein purpura in a Chinese population.
23536887 2013 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.
23190752 2013 Interaction of C1GALT1-IL5RA on the susceptibility to IgA nephropathy in Southern Han Chinese.
22988244 2012 Glycosyltransferase-specific Golgi-targeting mechanisms.
22589738 2012 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
22574202 2012 Targeted disruption of core 1 ?1,3-galactosyltransferase (C1galt1) induces apical endocytic trafficking in human corneal keratinocytes.
22544166 2012 C1GALT1 polymorphisms are associated with Henoch-Schönlein purpura nephritis.
22534569 2012 MUC1 in human and murine mammary carcinoma cells decreases the expression of core 2 ?1,6-N-acetylglucosaminyltransferase and ?-galactoside ?2,3-sialyltransferase.
22416136 2012 Tight complex formation between Cosmc chaperone and its specific client non-native T-synthase leads to enzyme activity and client-driven dissociation.
22131235 2012 Search for genetic association between IgA nephropathy and candidate genes selected by function or by gene mapping at loci IGAN2 and IGAN3.
21496458 2011 Co-translational function of Cosmc, core 1 synthase specific molecular chaperone, revealed by a cell-free translation system.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19923218 2010 The endoplasmic reticulum chaperone Cosmc directly promotes in vitro folding of T-synthase.
19556244 2009 Association of cell surface mucins with galectin-3 contributes to the ocular surface epithelial barrier.
19524017 2009 Site directed processing: role of amino acid sequences and glycosylation of acceptor glycopeptides in the assembly of extended mucin type O-glycan core 2.
19357720 2009 Interaction between variants of two glycosyltransferase genes in IgA nephropathy.
19229831 Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy.
19073881 2009 Systematic determination of the peptide acceptor preferences for the human UDP-Gal:glycoprotein-alpha-GalNAc beta 3 galactosyltransferase (T-synthase).
19010793 2009 Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
18985719 2008 Requirement for a core 1 galactosyltransferase in the Drosophila nervous system.
18840896 2009 No evidence for a role of cosmc-chaperone mutations in European IgA nephropathy patients.
18061573 2008 Immunocytochemical analysis for intracellular dynamics of C1GalT associated with molecular chaperone, Cosmc.
17228361 2007 Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16251947 2005 Protein glycosylation: chaperone mutation in Tn syndrome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12853948 2003 The DNA sequence of human chromosome 7.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12464682 2002 A unique molecular chaperone Cosmc required for activity of the mammalian core 1 beta 3-galactosyltransferase.
11677243 2002 Cloning and expression of human core 1 beta1,3-galactosyltransferase.
10580128 1999 Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions.