C1GALT1
| core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | C1GALT1 | ||||||
| NCBI gene | 56913 | ||||||
| HGNC | 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]
Function
[edit]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
[edit]There is some evidence that mutations in the C1GALT1 gene may be associated with kidney disease.[4]
See also
[edit]References
[edit]- ^ 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. doi:10.1016/S0304-4165(99)00168-3. PMID 10580128.
- ^ 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. doi:10.1074/jbc.M109060200. PMID 11677243.
- ^ "BGMUT Blood Group Antigen Gene Mutation Database". Retrieved 2011-07-16.
- ^ 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. Bibcode:2006PNAS..10316442A. doi:10.1073/pnas.0607872103. PMC 1637601. PMID 17062753.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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