EMS1
MIM.164765 11q13
Function
The formation of cadherin-mediated cell-cell junctions is accompanied by a profound remodeling of the actin cytoskeleton.
The Arp2/3 complex and its activator cortactin (EMS1) drive the assembly of branching actin-filament arrays, and formin (FMN) promotes the nucleation of non-branching actin filaments.
Recruitment of these actin nucleators to nascent adhesions, formation of the links between them and the cytoplasmic cadherin domain, and triggering of their actin-polymerizing functions are vital steps in the development of cell-cell junctions.
Pathology
Amplification of the 11q13 region is frequently found in breast cancer and in squamous cell carcinomas of the head and neck. The known oncogenes within the amplified 11q13 region, INT2 (MIM.164950) and FGF4 (MIM.164980), are rarely expressed in these tumors, indicating that another, hitherto unidentified gene or genes are involved in the unfavorable clinical course of disease associated with such amplification. EMS1 could be a target gene of this amplification.
11q13 amplifiation
- breast cancer
- squamous cell carcinomas of the head and neck
- esophageal squamous cell carcinoma
References
Luo ML, Shen XM, Zhang Y, Wei F, Xu X, Cai Y, Zhang X, Sun YT, Zhan QM, Wu M, Wang MR. Amplification and overexpression of CTTN (EMS1) contribute to the metastasis of esophageal squamous cell carcinoma by promoting cell migration and anoikis resistance. Cancer Res. 2006 Dec 15;66(24):11690-9. PMID: 17178864
Schuuring, E.; Verhoeven, E.; Mooi, W. J.; Michalides, R. J. A. M. Identification and cloning of two overexpressed genes, U21B31/PRAD1 and EMS1, within the amplified chromosome 11q13 region in human carcinomas. Oncogene 7: 355-361, 1992. PubMed ID : 1532244
van Damme, H.; Brok, H.; Schuuring-Scholtes, E.; Schuuring, E. : The redistribution of cortactin into cell-matrix contact sites in human carcinoma cells with 11q13 amplification is associated with both overexpression and post-translational modification. J. Biol. Chem. 272: 7374-7380, 1997. PubMed ID : 9054437