C1GALT1C1 gene

C1GALT1 specific chaperone 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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).

From NCBI Gene:

  • Polyagglutinable erythrocyte syndrome

From UniProt:

Tn polyagglutination syndrome (TNPS): A clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia. However, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. [MIM:300622]

Cytogenetic Location: Xq24, which is the long (q) arm of the X chromosome at position 24

Molecular Location: base pairs 120,625,674 to 120,630,150 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xq24, which is the long (q) arm of the X chromosome at position 24
  • C1GALT2
  • C38H2-L1
  • COSMC
  • HSPC067
  • MST143
  • TNPS