InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: JUP

Summary

InnateDB Protein

IDBP-49786.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

JUP

Protein Name

junction plakoglobin

Synonyms

ARVD12; CTNNG; DP3; DPIII; PDGB; PKGB;

Species

Homo sapiens

Ensembl Protein

ENSP00000311113

InnateDB Gene

IDBG-49784 (JUP)

Protein Structure

UniProt Annotation

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). {ECO:0000250}.

Subcellular Localization

Cell junction, adherens junction {ECO:0000269PubMed:22781308}. Cell junction, desmosome {ECO:0000269PubMed:22781308}. Cytoplasm, cytoskeleton {ECO:0000269PubMed:22781308}. Membrane {ECO:0000269PubMed:22781308}; Peripheral membrane protein {ECO:0000269PubMed:22781308}. Note=Cytoplasmic in a soluble and membrane-associated form.

Disease Associations

Naxos disease (NXD) [MIM:601214]: 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. {ECO:0000269PubMed:10902626}. Note=The disease is caused by mutations affecting the gene represented in this entry.Arrhythmogenic right ventricular dysplasia, familial, 12 (ARVD12) [MIM:611528]: 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. {ECO:0000269PubMed:17924338, ECO:0000269PubMed:20031617}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 129 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.

Experimentally validated
Total	129 [view]
Protein-Protein	128 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	11 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003713	transcription coactivator activity
GO:0005198	structural molecule activity
GO:0005199	structural constituent of cell wall
GO:0005488	binding
GO:0005515	protein binding
GO:0019901	protein kinase binding
GO:0019903	protein phosphatase binding
GO:0042803	protein homodimerization activity
GO:0045294	alpha-catenin binding
GO:0045296	cadherin binding

Biological Process

GO:0000902	cell morphogenesis
GO:0002159	desmosome assembly
GO:0003136	negative regulation of heart induction by canonical Wnt receptor signaling pathway
GO:0003181	atrioventricular valve morphogenesis
GO:0003308	negative regulation of Wnt receptor signaling pathway involved in heart development
GO:0007016	cytoskeletal anchoring at plasma membrane
GO:0007369	gastrulation
GO:0007398	ectoderm development
GO:0007399	nervous system development
GO:0016331	morphogenesis of embryonic epithelium
GO:0016337	single organismal cell-cell adhesion
GO:0016477	cell migration
GO:0034329	cell junction assembly
GO:0034332	adherens junction organization
GO:0042127	regulation of cell proliferation
GO:0042307	positive regulation of protein import into nucleus
GO:0043588	skin development
GO:0045216	cell-cell junction organization
GO:0048599	oocyte development
GO:0050982	detection of mechanical stimulus
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity
GO:0071603	endothelial cell-cell adhesion
GO:0071681	cellular response to indole-3-methanol
GO:0086005	ventricular cardiac muscle cell action potential
GO:0086069	bundle of His cell to Purkinje myocyte communication
GO:0086091	regulation of heart rate by cardiac conduction
GO:0090002	establishment of protein localization to plasma membrane
GO:0090263	positive regulation of canonical Wnt signaling pathway

Cellular Component

GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0005911	cell-cell junction
GO:0005913	cell-cell adherens junction
GO:0005915	zonula adherens
GO:0005916	fascia adherens
GO:0009898	cytoplasmic side of plasma membrane
GO:0014704	intercalated disc
GO:0015629	actin cytoskeleton
GO:0016323	basolateral plasma membrane
GO:0016342	catenin complex
GO:0030018	Z disc
GO:0030057	desmosome
GO:0032993	protein-DNA complex
GO:0070062	extracellular vesicular exosome
GO:0071665	gamma-catenin-TCF7L2 complex