View source for C1GALT1

{{infobox protein
|Name=core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1
|caption=
|image=
|width=
|HGNCid=24337
|Symbol=C1GALT1
|AltSymbols=
|EntrezGene=56913
|OMIM=610555
|RefSeq=NM_020156
|UniProt= Q9NS00
|PDB=
|ECnumber=2.4.1.122
|Chromosome=7
|Arm=p
|Band=21.3
|LocusSupplementaryData=
}}
'''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]].<ref name="pmid10580128">{{cite journal | vauthors = Amado M, Almeida R, Schwientek T, Clausen H | title = Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions | journal = Biochim. Biophys. Acta | volume = 1473 | issue = 1 | pages = 35–53 |date=December 1999 | pmid = 10580128 | doi = 10.1016/S0304-4165(99)00168-3 | url =  | issn = }}</ref><ref name="pmid11677243">{{cite journal | vauthors = Ju T, Brewer K, D'Souza A, Cummings RD, Canfield WM | title = Cloning and expression of human core 1 beta1,3-galactosyltransferase | journal = J. Biol. Chem. | volume = 277 | issue = 1 | pages = 178–86 |date=January 2002 | pmid = 11677243 | doi = 10.1074/jbc.M109060200 | url = | issn = }}</ref>

==Function==
The common core 1 [[Glycans#O-Linked glycans|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 [[glycoprotein]]s. Core 1 is synthesized by the transfer of [[Galactose|Gal]] from [[Uridine diphosphate|UDP]]-Gal to GalNAc-alpha-1-R by core 1 beta-3-galactosyltransferase (C1GALT1).<ref name="pmid11677243"/>

C1GALT1 is associated with the [[Thomsen-Friedenreich antigen|T-Tn antigen]] system.<ref name="urldbRBC - Blood Group Antigen Gene Mutation Database">{{cite web |url=https://www.ncbi.nlm.nih.gov/projects/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system=t |title=BGMUT Blood Group Antigen Gene Mutation Database |format= |work= |accessdate=2011-07-16}}</ref>

==Clinical significance==
There is some evidence that mutations in the ''C1GALT1'' gene may be associated with [[kidney disease]].<ref name="pmid17062753">{{cite journal |vauthors=Alexander WS, Viney EM, Zhang JG |title=Thrombocytopenia and kidney disease in mice with a mutation in the C1galt1 gene |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue=44 |pages=16442–7 |date=October 2006 |pmid=17062753 |pmc=1637601 |doi=10.1073/pnas.0607872103 |url=http://www.pnas.org/cgi/pmidlookup?view=long&pmid=17062753|display-authors=etal}}</ref>

==See also==
* [[Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase]]

==References==
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{{Glycosyltransferases}}


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