C1GALT1

C1GALT1

core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1
Identifiers
Symbol C1GALT1
Entrez 56913
HUGO 24337
OMIM 610555
RefSeq NM_020156
UniProt Q9NS00
Other data
EC number 2.4.1.122
Locus Chr. 7 p21.3

Core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 also known as C1GALT1 is an enzyme which in humans is encoded by the C1GALT1 gene.[1][2]

Contents

  • Function 1
  • Clinical significance 2
  • See also 3
  • References 4

Function

The common core 1 O-glycan structure Gal-beta-1-3GalNAc-R is a precursor for many extended mucin-type O-glycan structures in animal cell surface and secreted glycoproteins. Core 1 is synthesized by the transfer of Gal from UDP-Gal to GalNAc-alpha-1-R by core 1 beta-3-galactosyltransferase (C1GALT1).[2]

C1GALT1 is associated with the T-Tn antigen system.[3]

Clinical significance

There is some evidence that mutations in the C1GALT1 gene may be associated with kidney disease.[4]

See also

References

  1. ^ Amado M, Almeida R, Schwientek T, Clausen H (December 1999). "Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions". Biochim. Biophys. Acta 1473 (1): 35–53.  
  2. ^ a b Ju T, Brewer K, D'Souza A, Cummings RD, Canfield WM (January 2002). "Cloning and expression of human core 1 beta1,3-galactosyltransferase". J. Biol. Chem. 277 (1): 178–86.  
  3. ^ "BGMUT Blood Group Antigen Gene Mutation Database". Retrieved 2011-07-16. 
  4. ^ Alexander WS, Viney EM, Zhang JG, et al. (October 2006). "Thrombocytopenia and kidney disease in mice with a mutation in the C1galt1 gene". Proc. Natl. Acad. Sci. U.S.A. 103 (44): 16442–7.  

This article incorporates text from the United States National Library of Medicine, which is in the public domain.