C1GALT1 explained
| core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 |
| Hgncid: | 24337 |
| Symbol: | C1GALT1 |
| Entrezgene: | 56913 |
| Omim: | 610555 |
| Refseq: | NM_020156 |
| Uniprot: | Q9NS00 |
| Ecnumber: | 2.4.1.122 |
| Chromosome: | 7 |
| Arm: | p |
| Band: | 21.3 |
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]
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
Notes and References
- Amado M, Almeida R, Schwientek T, Clausen H . Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions . Biochim. Biophys. Acta . 1473 . 1 . 35–53 . December 1999 . 10580128 . 10.1016/S0304-4165(99)00168-3 .
- Ju T, Brewer K, D'Souza A, Cummings RD, Canfield WM . Cloning and expression of human core 1 beta1,3-galactosyltransferase . J. Biol. Chem. . 277 . 1 . 178–86 . January 2002 . 11677243 . 10.1074/jbc.M109060200 . free .
- Web site: BGMUT Blood Group Antigen Gene Mutation Database . 2011-07-16.
- Alexander WS, Viney EM, Zhang JG . Thrombocytopenia and kidney disease in mice with a mutation in the C1galt1 gene . Proc. Natl. Acad. Sci. U.S.A. . 103 . 44 . 16442–7 . October 2006 . 17062753 . 1637601 . 10.1073/pnas.0607872103 . 2006PNAS..10316442A . etal. free .
