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FLASH GENE
Symbol JUP contributors: mct - updated : 05-04-2016
HGNC name junction plakoglobin
HGNC id 6207
Corresponding disease
ARVD12 arrhythmogenic right ventricular dysplasia, familial, 12
ARVDPPK arrhythmogenic right ventricular dysplasia , with diffuse non epidermolytic palmoplantar keratoderma
Location 17q21.2      Physical location : 39.910.858 - 39.942.964
Synonym name
  • junction urea soluble protein DPIII)
  • plakoglobin, catenin gamma
  • desmoplakin III
    • Synonym symbol(s) PKGB, CTNNG1, DP3, PDGB, DPIII, CTNNG
    DNA
    TYPE functioning gene
    STRUCTURE 32.11 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box)
    Binding site   transcription factor
    text structure Sp1 and Ap2 binding site for transcription factor
    MAPPING cloned Y linked   status confirmed
    Map cen - D17S260 - THRA - KRT10 - [D17S800 - D17S846 -HSD17B1 - D17S855 - D17S858 - D17S78 - D17S579 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 3508 - 745 - 2001 11720882
    15 - 3211 - 745 - 2001 11720882
    EXPRESSION
    Rna function mRNAs were abundant in both dorsolateral prefrontal cortex and hippocampus, with a distinct neuronal localization^, without the distinct laminar patterns seen for CTNNA2 and CTNNB1 but distinctly localized in the granule cells of the dentate gyrus and pyramidal cells of Ammon horn
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Endocrinepancreas   highly
    Nervousbrainlimbic systemhippocampus   Homo sapiens
     brainforebraincerebral cortexfrontal cortexhighly Homo sapiens
    Reproductivemale systemprostate  highly
    Respiratoryrespiratory tractlarynx  highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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'