JUP

This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]JUP (Junction Plakoglobin) is a Protein Coding gene. Diseases associated with JUP include Naxos Disease and Arrhythmogenic Right Ventricular Dysplasia, Familial, 12. Among its related pathways are Cytoskeletal Signaling and E-cadherin signaling in the nascent adherens junction. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase binding. An important paralog of this gene is CTNNB1.Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-catenin in E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton (By similarity).