| Structural highlights
Disease
[EPCAM_HUMAN] Intestinal epithelial dysplasia;Hereditary nonpolyposis colon cancer. The disease is caused by mutations affecting the gene represented in this entry.[1] The disease is caused by mutations affecting the gene represented in this entry. HNPCC8 results from heterozygous deletion of 3-prime exons of EPCAM and intergenic regions directly upstream of MSH2, resulting in transcriptional read-through and epigenetic silencing of MSH2 in tissues expressing EPCAM.[2]
Function
[EPCAM_HUMAN] May act as a physical homophilic interaction molecule between intestinal epithelial cells (IECs) and intraepithelial lymphocytes (IELs) at the mucosal epithelium for providing immunological barrier as a first line of defense against mucosal infection. Plays a role in embryonic stem cells proliferation and differentiation. Up-regulates the expression of FABP5, MYC and cyclins A and E.[3] [4] [5] [6]
References
- ↑ Sivagnanam M, Mueller JL, Lee H, Chen Z, Nelson SF, Turner D, Zlotkin SH, Pencharz PB, Ngan BY, Libiger O, Schork NJ, Lavine JE, Taylor S, Newbury RO, Kolodner RD, Hoffman HM. Identification of EpCAM as the gene for congenital tufting enteropathy. Gastroenterology. 2008 Aug;135(2):429-37. doi: 10.1053/j.gastro.2008.05.036. Epub, 2008 May 15. PMID:18572020 doi:http://dx.doi.org/10.1053/j.gastro.2008.05.036
- ↑ Ligtenberg MJ, Kuiper RP, Chan TL, Goossens M, Hebeda KM, Voorendt M, Lee TY, Bodmer D, Hoenselaar E, Hendriks-Cornelissen SJ, Tsui WY, Kong CK, Brunner HG, van Kessel AG, Yuen ST, van Krieken JH, Leung SY, Hoogerbrugge N. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. Nat Genet. 2009 Jan;41(1):112-7. doi: 10.1038/ng.283. Epub 2008 Dec 21. PMID:19098912 doi:http://dx.doi.org/10.1038/ng.283
- ↑ Munz M, Kieu C, Mack B, Schmitt B, Zeidler R, Gires O. The carcinoma-associated antigen EpCAM upregulates c-myc and induces cell proliferation. Oncogene. 2004 Jul 29;23(34):5748-58. PMID:15195135 doi:http://dx.doi.org/10.1038/sj.onc.1207610
- ↑ Munz M, Zeidler R, Gires O. The tumour-associated antigen EpCAM upregulates the fatty acid binding protein E-FABP. Cancer Lett. 2005 Jul 8;225(1):151-7. Epub 2004 Dec 28. PMID:15922867 doi:http://dx.doi.org/10.1016/j.canlet.2004.11.048
- ↑ Lu TY, Lu RM, Liao MY, Yu J, Chung CH, Kao CF, Wu HC. Epithelial cell adhesion molecule regulation is associated with the maintenance of the undifferentiated phenotype of human embryonic stem cells. J Biol Chem. 2010 Mar 19;285(12):8719-32. doi: 10.1074/jbc.M109.077081. Epub 2010, Jan 11. PMID:20064925 doi:http://dx.doi.org/10.1074/jbc.M109.077081
- ↑ Ng VY, Ang SN, Chan JX, Choo AB. Characterization of epithelial cell adhesion molecule as a surface marker on undifferentiated human embryonic stem cells. Stem Cells. 2010 Jan;28(1):29-35. doi: 10.1002/stem.221. PMID:19785009 doi:http://dx.doi.org/10.1002/stem.221
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