Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol JUP contributors: mct - updated : 05-04-2016
HGNC name junction plakoglobin
HGNC id 6207
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal head domain including a potential coiled-coil forming alpha-helix segment
  • 13 imperfect armadillo repeats flanked by N- and C-terminus
  • a C terminal tail domain
    • mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to Drosophila Armadillo segment polarity gene
    intraspecies homolog to catenin beta 1
    Homologene
    FAMILY
  • beta catenin family
    • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,adherens
    plasma membrane,junction,desmosome
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    text
  • component for both desmosomes and adherens junctions
    • basic FUNCTION
  • alpha cadherin and desmoglein, transducing wingless signals
  • regulating cell adhesion
  • signaling molecule with roles in desmosome assembly and development and in regulation of gene expression
  • acting as a potent modulator of epithelial homeostasis via its role as a key suppressor of c-Myc
  • also a structural constituent of desmosomes, where it binds to the cytoplasmic domains of the desmosomal cadherins, desmogleins and desmocollins
  • required for correct maintenance of skin integrity, but have distinct roles in the epidermis and heart
  • arterial intima-enriched (AIE) gene, with periplakin, SPRR3, envoplakin, galectin 7, and plakoglobin that are functionally related in that they contribute to the stress properties of stratified epithelium
  • structural component of desmosomes, but also participates in the constitution of another cell–cell junction—the adherens junction
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of desmosomal plaque
  • component of cell-cell adhesion complexes
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • E cadherin
  • interacts with the DPAGT1 promoter through a Wnt-dependent mechanism distinct from that of CTNNB1
  • LEF1 acts as a switch activating DSC2 and repressing DSC3 in the presence of JUP
  • SOX30 acts as a master switch of desmosomal genes (DSC3, DSP, JUP), inhibits lung adenocarcinoma cell proliferation, migration and invasion by activating the transcription of desmosomal genes
    • cell & other
    REGULATION
    Other regulated by prolonged cyclic stress in vascular smooth muscle cells, which may have important implications to vascular disease
    ASSOCIATED DISORDERS
    corresponding disease(s) ARVDPPK , ARVD12
    related resource Gene Connection for the Heart - Naxos disease database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    by somatic mutation in gastric tumors
    tumoral     --over  
    implicated in the promotion of genomic instability in cancer cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Jup mutant mice showed a biventricular cardiomyopathy with an early and severe hit on the RV, which seemingly contradicts the term ‘ARVC'