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FLASH GENE
Symbol JUP contributors: mct - updated : 05-04-2016
HGNC name junction plakoglobin
HGNC id 6207
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'