JUP

This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions.

Full Name

junction plakoglobin

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).

Biological Process

Bundle of His cell-Purkinje myocyte adhesion involved in cell communicationManual Assertion Based On ExperimentIMP:BHF-UCL
Cell migrationManual Assertion Based On ExperimentIMP:BHF-UCL
Cell-cell adhesionManual Assertion Based On ExperimentIDA:BHF-UCL
Cellular response to indole-3-methanolManual Assertion Based On ExperimentIDA:UniProtKB
Desmosome assemblyManual Assertion Based On ExperimentIDA:BHF-UCL
Detection of mechanical stimulusManual Assertion Based On ExperimentIDA:BHF-UCL
Endothelial cell-cell adhesionISS:BHF-UCL
Negative regulation of blood vessel endothelial cell migrationManual Assertion Based On ExperimentIGI:BHF-UCL
Positive regulation of angiogenesisManual Assertion Based On ExperimentIGI:BHF-UCL
Positive regulation of canonical Wnt signaling pathway1 PublicationIC:BHF-UCL
Positive regulation of cell-matrix adhesionManual Assertion Based On ExperimentIGI:BHF-UCL
Positive regulation of DNA-binding transcription factor activityManual Assertion Based On ExperimentIDA:BHF-UCL
Positive regulation of protein import into nucleusManual Assertion Based On ExperimentIDA:BHF-UCL
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Protein localization to plasma membraneManual Assertion Based On ExperimentIMP:UniProtKB
Regulation of cell population proliferationManual Assertion Based On ExperimentIDA:BHF-UCL
Regulation of heart rate by cardiac conductionManual Assertion Based On ExperimentIMP:BHF-UCL
Regulation of ventricular cardiac muscle cell action potentialManual Assertion Based On ExperimentIMP:BHF-UCL
Skin developmentIEA:Ensembl

Cellular Location

Cell junction, adherens junction; Cell junction, desmosome; Cytoplasm, cytoskeleton; Membrane. Cytoplasmic in a soluble and membrane-associated form.

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.
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.

PTM

May be phosphorylated by FER.

JUP

Anti-JUP antibodies