Property Summary

NCBI Gene PubMed Count 33
PubMed Score 102.49
PubTator Score 56.16

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Expression

  Differential Expression (6)

Disease log2 FC p
hepatocellular carcinoma 1.100 8.2e-05
pancreatic cancer 1.100 1.5e-02
pilocytic astrocytoma 1.200 1.2e-07
pancreatic carcinoma 1.100 1.5e-02
ovarian cancer 1.500 1.5e-03
pituitary cancer -1.200 8.5e-07

Synonym

Accession Q96EU7 A8K246 Q8WWS3 Q9NZX1
Symbols TNPS
COSMC
MST143
C1GALT2
HSPC067
C38H2-L1

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (26)

PMID Text
26545495 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.
26063800 Cosmc and T-synthase are transcriptionally regulated at a basal level by the specificity protein/Kruppel-like transcription factor family of members.
26045765 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
26021314 the impact of COSMC mediated Tn antigen expression in two human pancreatic ductal adenocarcinoma cell lines on cellular oncogenic properties, were investigated.
25647400 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
24616093 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
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.
23424651 COSMC is a novel regulator for VEGFR2 signaling in endothelial cells and dysregulation of COSMC expression may contribute to the pathogenesis of hemangioma
23390052 overexpression of Cosmc is associated with colorectal 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.
22332537 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.
21496458 Results indicate that Cosmc mediates the co-translational activation of C1GalT and that it may prevent the unfavorable aggregation of C1GalT.
21262965 The transmembrane domain of the molecular chaperone Cosmc directs its localization to the endoplasmic reticulum
20144270 Study results suggest that C1GALT1C1 may play a key role in the regulation of IgA1 O-glycosylation.
19923218 Cosmc represents the first endoplasmic reticulum chaperone identified to be required for folding of a glycosyltransferase
19778426 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
19778426 Observational study of gene-disease association. (HuGE Navigator)
18840896 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.
18695044 Cosmc is an endoplasmic reticulum (ER)-localized adenosine triphosphate binding chaperone that binds directly to human T-synthase.
18537974 a novel inactivating mutations (Glu152Lys, Ser193Pro and Met1Ile) in the coding sequence of C1GALT1C1
18339842 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.
18321367 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.
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)
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
12361956 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

AA Sequence

MLSESSSFLKGVMLGSIFCALITMLGHIRIGHGNRMHHHEHHHLQAPNKEDILKISEDERMELSKSFRVY      1 - 70
CIILVKPKDVSLWAAVKETWTKHCDKAEFFSSENVKVFESINMDTNDMWLMMRKAYKYAFDKYRDQYNWF     71 - 140
FLARPTTFAIIENLKYFLLKKDPSQPFYLGHTIKSGDLEYVGMEGGIVLSVESMKRLNSLLNIPEKCPEQ    141 - 210
GGMIWKISEDKQLAVCLKYAGVFAENAEDADGKDVFNTKSVGLSIKEAMTYHPNQVVEGCCSDMAVTFNG    211 - 280
LTPNQMHVMMYGVYRLRAFGHIFNDALVFLPPNGSDND                                    281 - 318
//

Text Mined References (37)

PMID Year Title
26545495 2015 Increased miR-374b promotes cell proliferation and the production of aberrant glycosylated IgA1 in B cells of IgA nephropathy.
26063800 2015 Promoters of Human Cosmc and T-synthase Genes Are Similar in Structure, Yet Different in Epigenetic Regulation.
26045765 2015 Aberrant Cosmc genes result in Tn antigen expression in human colorectal carcinoma cell line HT-29.
26021314 2015 COSMC knockdown mediated aberrant O-glycosylation promotes oncogenic properties in pancreatic cancer.
25647400 2015 DNA methylation in Cosmc promoter region and aberrantly glycosylated IgA1 associated with pediatric IgA nephropathy.
24616093 2014 Identification of a novel protein binding motif within the T-synthase for the molecular chaperone Cosmc.
24462875 2014 CagA, a major virulence factor of Helicobacter pylori, promotes the production and underglycosylation of IgA1 in DAKIKI cells.
23424651 2013 COSMC is overexpressed in proliferating infantile hemangioma and enhances endothelial cell growth via VEGFR2.
23390052 2014 The molecular chaperone Cosmc enhances malignant behaviors of colon cancer cells via activation of Akt and ERK.
23035125 2012 Epigenetic silencing of the chaperone Cosmc in human leukocytes expressing tn antigen.
22416136 2012 Tight complex formation between Cosmc chaperone and its specific client non-native T-synthase leads to enzyme activity and client-driven dissociation.
22332537 2011 [Effect of methylation modification on the expression of Cosmc gene in peripheral B lymphocyte of IgA nephropathy patients].
21496458 2011 Co-translational function of Cosmc, core 1 synthase specific molecular chaperone, revealed by a cell-free translation system.
21383503 2011 Loss of intestinal core 1-derived O-glycans causes spontaneous colitis in mice.
21262965 2011 The transmembrane domain of the molecular chaperone Cosmc directs its localization to the endoplasmic reticulum.
20144270 2010 The role of C1GALT1C1 in lipopolysaccharide-induced IgA1 aberrant O-glycosylation in IgA nephropathy.
19923218 2010 The endoplasmic reticulum chaperone Cosmc directly promotes in vitro folding of T-synthase.
19778426 2009 Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy?
19199708 2009 Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT).
18840896 2009 No evidence for a role of cosmc-chaperone mutations in European IgA nephropathy patients.
18695044 2008 Regulation of protein O-glycosylation by the endoplasmic reticulum-localized molecular chaperone Cosmc.
18537974 2008 New mutations in C1GALT1C1 in individuals with Tn positive phenotype.
18339842 2008 Human tumor antigens Tn and sialyl Tn arise from mutations in Cosmc.
18321367 2008 Absence of COSMC gene mutations in breast and colorectal carcinomas.
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.
17038624 2006 A mutant chaperone converts a wild-type protein into a tumor-specific antigen.
16251947 2005 Protein glycosylation: chaperone mutation in Tn syndrome.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
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.
12361956 2002 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.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.