JUP
Domain
The entire ARM repeats region mediates binding to CDH1/E-cadherin. The N-terminus and first three ARM repeats are sufficient for binding to DSG1. The N-terminus and first ARM repeat are sufficient for association with CTNNA1. DSC1 association requires both ends of the ARM repeat region.
Function
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).
Involvement in disease
Naxos disease
NXD
An autosomal recessive disorder characterized by the association of diffuse non-epidermolytic palmoplantar keratoderma with woolly hair and cardiac abnormalities such as dilated cardiomyopathy and arrhythmogenic right ventricular dysplasia.
None
The disease is caused by variants affecting the gene represented in this entry.
Arrhythmogenic right ventricular dysplasia, familial, 12
ARVD12
A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
May be phosphorylated by FER.
Sequence Similarities
Belongs to the beta-catenin family.
Tissue Specificity
Expressed in the heart (at protein level).
Cellular localization
- Cell junction
- Adherens junction
- Cell junction
- Desmosome
- Cytoplasm
- Cytoskeleton
- Cell membrane
- Peripheral membrane protein
- Cytoplasm
- Cell junction
- Nucleus
- Cytoplasmic in a soluble and membrane-associated form. Colocalizes with DSG4 at desmosomes (PubMed:21495994).
Alternative names
CTNNG, DP3, JUP, Junction plakoglobin, Catenin gamma, Desmoplakin III, Desmoplakin-3