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C1GALT1








C1GALT1


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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






  • 1 Function


  • 2 Clinical significance


  • 3 See also


  • 4 References





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]


  • Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase


References[edit]





  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. doi:10.1016/S0304-4165(99)00168-3. PMID 10580128..mw-parser-output cite.citation{font-style:inherit}.mw-parser-output q{quotes:"""""""'""'"}.mw-parser-output code.cs1-code{color:inherit;background:inherit;border:inherit;padding:inherit}.mw-parser-output .cs1-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/6/65/Lock-green.svg/9px-Lock-green.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-limited a,.mw-parser-output .cs1-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/d/d6/Lock-gray-alt-2.svg/9px-Lock-gray-alt-2.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/a/aa/Lock-red-alt-2.svg/9px-Lock-red-alt-2.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration{color:#555}.mw-parser-output .cs1-subscription span,.mw-parser-output .cs1-registration span{border-bottom:1px dotted;cursor:help}.mw-parser-output .cs1-hidden-error{display:none;font-size:100%}.mw-parser-output .cs1-visible-error{font-size:100%}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration,.mw-parser-output .cs1-format{font-size:95%}.mw-parser-output .cs1-kern-left,.mw-parser-output .cs1-kern-wl-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right,.mw-parser-output .cs1-kern-wl-right{padding-right:0.2em}


  2. ^ ab 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.


  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. 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.















Retrieved from "https://en.wikipedia.org/w/index.php?title=C1GALT1&oldid=797983917"





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