C1GALT1C1

Last update 08 May 2025

Basic Info

Synonyms

C1Gal-T2, C1GALT1 specific chaperone 1, C1GALT1-specific chaperone 1

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Introduction

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).

100 Clinical Results associated with C1GALT1C1

100 Translational Medicine associated with C1GALT1C1

0 Patents (Medical) associated with C1GALT1C1

154

Literatures (Medical) associated with C1GALT1C1

01 May 2025·Immunobiology

Different doses of hydroxychloroquine regulate the structure of intestinal flora and glycosyltransferase activity in rats with IgA nephropathy

Article

Author: Bao, Sizeng ; Zhang, Aiwei ; Bao, Lingling ; Ren, Liling ; Bian, Xueyan

BACKGROUNDHydroxychloroquine (HCQ), by virtue of its ability to reduce proteinuria, is an alternative therapy for Immunoglobulin A nephropathy (IgAN). This study investigated the effects of different doses of HCQ on the structure of intestinal flora and glycosyltransferase activity in IgAN rats.METHODSIgAN model rats constructed by treatment of bovine serum albumin, castor oil and lipopolysaccharide were administered with HCQ (18 or 36 mg/kg) by gavage. Then the number of urine erythrocyte and the renal function of rats were evaluated. The levels of galactose-deficient IgA1 (Gd-IgA1), B cell activation factor (BAFF) and C-reactive protein (CRP) in serum and those of inflammatory factors in renal tissue were detected by ELISA. Renal tissue injury and IgA deposition were assessed by histological analysis. The expressions of Core 1 beta1,3-galactosyltransferase (C1GALT1), Core 1 synthase specific molecular chaperone (COSMC) and ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 (ST6GALNAC2) were quantified by qRT-PCR, Western blot or in vitro enzyme assays. 16 s rDNA sequencing was used to analyze the structure of intestinal flora in rats.RESULTSHCQ dose-dependently decreased the levels of serum creatinine, UREA, Gd-IgA1, BAFF, CRP and urine protein, waned the number of urine erythrocyte, inhibited the expressions of inflammatory factors and IgA deposition in renal tissue, and up-regulated the expressions of C1GALT1, COSMC and down-regulated ST6GALNAC2 expression in peripheral blood mononuclear cells (PBMCs).CONCLUSIONHCQ could reduce glomerular swelling in mesangial area and improve the imbalance of intestinal flora in IgAN rats.

01 Mar 2025·Animal Nutrition

Transcriptome analysis reveals modulations in glycosylation profiles of the mucosal barrier and their potential interaction with gut microbiota in weaned piglets

Article

Author: Wang, Jing ; Ma, Xiaokang ; Zhao, Yujie ; Yang, Kai ; Cheng, Hao ; Tan, Bie ; Li, Hao

The current study aims to investigate the potential interaction between glycosylation profiles of the Ningxiang breed (NX) and Western Duroc × Landrace × Yorkshire breed (DLY) weaned piglets, and their characteristic microbes, employing integrated analyses of transcriptomics and metagenomics. Twenty-four (12 NX and 12 DLY) at 28 days of age were transported into an experimental house and fed the same weaned piglet diet. The trail period was 7 days. Results revealed that the NX piglets had a higher growth-to-feed ratio, body weight gain scale, and lower pathological score of intestinal injury compared with the DLY piglets (P < 0.01). DLY piglets displayed elevated mRNA expression levels of MUC2 and MUC5AC in colonic mucosal tissue than NX piglets (P < 0.05). Within the O-linked glycosylated differentially expressed genes (DEGs), FNTA, GALNT18, POMGNT1, POMGNT2, and POMT1 were significantly upregulated in DLY piglets relative to NX piglets (P < 0.05). Conversely, C1GALT2, GALNT1, KMT2C, and OGT were significantly downregulated in DLY piglets compared to NX piglets (P < 0.05). The KMT2C gene was hardly expressed in the transcriptome of DLY piglets. At the phylum taxonomic level, NX piglets had a higher abundance of Firmicutes, while DLY piglets had a higher abundance of Proteobacteria. At the genus taxonomic level, NX piglets had a higher abundance of Lactobacillus, whereas DLY piglets had a higher abundance of Collinsella, Enterococcus and Escherichia. The results of the correlation between intestinal differential bacteria and O-chain glycosylated DEG showed that C1GALT2, GALNT1 and KMT2 were associated with Lactobacillus_pontis showed a positive correlation (R = 0.67). Through comparative analysis of differentially glycosylated genes and their associated functions, this study highlights the potential role of reduced expression of GALNT1 and KMT2C genes, involved in O-linked protein and glycan reactions, in impairing the intestinal barrier function of DLY piglets. Furthermore, members of the Lactobacillus and Prevotella genera may actively contribute to the regulation of piglet colon glycosylation profiles.

01 Mar 2025·Journal of Inherited Metabolic Disease

C1GALT1C1‐Associated Mosaic Disorder of Glycosylation in a Female

Article

Author: Ramanujan, Aditya ; Aryal, Rajindra P. ; Cummings, Sandra F. ; Heimburg‐Molinaro, Jamie ; Beck, Bodo B. ; Neckelmann, Christian ; Cummings, Richard D. ; Seaver, Laurie H. ; Erger, Florian ; Bucci, Camille

ABSTRACTCosmc, encoded by the X‐linked C1GALT1C1, is a molecular chaperone in the endoplasmic reticulum and a master regulator of O‐glycosylation of mammalian glycoproteins. Recently, we described a germline mutation in C1GALT1C1 in two male patients, giving rise to a congenital disorder of glycosylation—COSMC‐CDG. Here, we have identified a female patient with a de novo mosaic variant in C1GALT1C1 (c.202C>T, p.Arg68*), which results in a truncated and nonfunctional form of Cosmc (Cosmc‐R68). The patient is mosaic, as ~27% of her buccal cells carry the mutation. The patient is now a 5‐year old who presented with nonimmune hydrops fetalis. As Cosmc is essential for the generation of normal O‐glycans through regulating T‐synthase activity, thereby enabling the formation of the universal Core 1 O‐glycan Galβ1‐3GalNAcα1‐Ser/Thr (T‐antigen), the loss of Cosmc leads to the expression of the unusual precursor O‐glycan termed Tn‐antigen (CD175) (GalNAcα1‐Ser/Thr). Owing to the mutational mosaicism, only a significant minority of cells would exhibit abnormal O‐glycosylation. Analysis of red blood cells (RBCs), leukocytes, and serum from this patient indicated reduced expression of Cosmc and T‐synthase proteins and lower T‐synthase activity. Consistent with these findings, we observed reduced normal O‐glycans in serum glycoproteins and RBCs from the patient, along with elevated expression of the Tn‐antigen in serum glycoproteins compared to controls. This case represents the first description of a true mosaic loss‐of‐function variant in C1GALT1C1, that is, one that occurred postzygotically during embryogenesis, and raises interesting questions about the role of O‐glycosylation during fetal development and its consequences on the clinical presentation.

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C1GALT1C1

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