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Probable chaperone required for the generation of 1 O-glycan Gal-beta1-3GalNAc-alpha1-Ser/Thr (T antigen), which is a precursor for many extended O-glycans in glycoproteins. Probably acts as a specific molecular chaperone assisting the folding/stability of core 1 beta-3-galactosyltransferase (C1GALT1).
Gene References into Functions
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
elevated Tn levels in cancer and inflammation may be commonly regulated by the cytokine (TNFa and IL6)-Cosmc signaling axis PMID: 27542280
The data suggest that hypermethylation of the Cosmc promoter may induce the expression of Tn antigen in activated T cells. PMID: 28708980
results provide new structure-function insight to Cosmc, indicate that Cosmc behaves as a modular protein and suggests points of modulation or regulation of in vivo chaperone function PMID: 28665962
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
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
mutations c.393T>A and c.72A>G in the exon region of Cosmc gene in children with Henoch-Schonlein purpura (HSP) are not associated with the onset of Henoch-Schonlein purpura PMID: 27412546
Data suggest that patients with IgA nephropathy exhibit higher microRNA-374b in B cells compared to controls; microRNA-374b appears to target PTEN (phosphatase and tensin homolog) and Cosmc (C1GALT1 specific chaperone 1) proteins. PMID: 26545495
These results indicate that Tn antigens expression and T-synthase inactivity in HT-29-Tn+ cells can be related to the absence of the Cosmc gene coding sequence in Cosmc active alleles PMID: 26045765
the impact of COSMC mediated Tn antigen expression in two human pancreatic ductal adenocarcinoma cell lines on cellular oncogenic properties, were investigated. PMID: 26021314
hypermethylation of Cosmc promoter region could be a key mechanism for the reduction of Cosmc mRNA expression in IgAN lymphocytes with associated increase in aberrantly glycosylated IgA1 PMID: 25647400
Cosmc and T-synthase are transcriptionally regulated at a basal level by the specificity protein/Kruppel-like transcription factor family of members. PMID: 26063800
CBRT is a unique recognition motif for Cosmc to promote its regulation and formation of active T-synthase and represents the first sequence-specific chaperone recognition system in the ER/Golgi required for normal protein O-glycosylation PMID: 24616093
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
overexpression of Cosmc is associated with colorectal cancer. PMID: 23390052
COSMC is a novel regulator for VEGFR2 signaling in endothelial cells and dysregulation of COSMC expression may contribute to the pathogenesis of hemangioma PMID: 23424651
The mRNA expression level of Cosmc gene in IgA nephropathy patients was significantly lower than that of controls. De-methylation modification up regulated the Cosmc gene expression significantly. PMID: 22332537
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
Results indicate that Cosmc mediates the co-translational activation of C1GalT and that it may prevent the unfavorable aggregation of C1GalT. PMID: 21496458
The transmembrane domain of the molecular chaperone Cosmc directs its localization to the endoplasmic reticulum PMID: 21262965
Study results suggest that C1GALT1C1 may play a key role in the regulation of IgA1 O-glycosylation. PMID: 20144270
Cosmc represents the first endoplasmic reticulum chaperone identified to be required for folding of a glycosyltransferase PMID: 19923218
molecular cloning and characterization; C1Gal-T2 is the second candidate for core 1 synthase that plays an important role in synthesizing O-glycans in digestive organs PMID: 12361956
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
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
The tumor-specific antigen caused by mutant COSMC seems to be rare and is not potentially a therapeutic target candidate in breast and colon cancers. PMID: 18321367
Colon cancer and melanoma-derived cells lines expressed Tn and STn antigen due to loss-of-function mutations in Cosmc. Cervical cancer specimens that showed expression of the Tn/STn antigens were also found to have mutations in Cosmc. PMID: 18339842
a novel inactivating mutations (Glu152Lys, Ser193Pro and Met1Ile) in the coding sequence of C1GALT1C1 PMID: 18537974
Cosmc is an endoplasmic reticulum (ER)-localized adenosine triphosphate binding chaperone that binds directly to human T-synthase. PMID: 18695044
Although decreased C1GALT1 activity has been implicated in IgAN pathogenesis and cosmc chaperone mutations can cause autoimmune disease, our data provide no evidence for a role of cosmc gene mutations in European patients with sporadic or familial IgAN. PMID: 18840896
The c.-347-190G>A polymorphism and the somatic mutation of encoding region of C1GALT1C1 gene were not significantly related to the genetic susceptibility to IgAN in Northern Chinese population PMID: 19778426
Ubiquitously expressed. Abundantly expressed in salivary gland, stomach, small intestine, kidney, and testis and at intermediate levels in whole brain, cerebellum, spinal cord, thymus, spleen, trachea, lung, pancreas, ovary, and uterus.