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 Diseases associated with O-glycosylation of proteins and Transport to the Golgi and subsequent modification. GO annotations related to this gene include polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is C1GALT1C1L.
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).