Aliases for C1GALT1C1 Gene
External Ids for C1GALT1C1 Gene
Previous GeneCards Identifiers for C1GALT1C1 Gene
This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]
GeneCards Summary for C1GALT1C1 Gene
C1GALT1C1 (C1GALT1-Specific Chaperone 1) is a Protein Coding gene. Diseases associated with C1GALT1C1 include tn polyagglutination syndrome, somatic and wound botulism. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism. GO annotations related to this gene include polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is C1GALT1.
UniProtKB/Swiss-Prot for C1GALT1C1 Gene
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).