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FLASH GENE
Symbol PLEC contributors: mct - updated : 12-11-2014
HGNC name plectin
HGNC id 9069
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a globular N terminus, with a conserved region, the plakin domain, which is formed by an array of spectrin repeats (SR) and a Src-homology 3 (SH3), and harbors binding sites for junctional proteins
  • a central alpha helical coiled coil (rod) domain
  • a C-terminal tail consisiting of characteristic repeat sequences, and a linker region in the C-terminal end of plectin required for the association of the protein with intermediate filaments
    • mono polymer homomer , dimer , tetramer
    HOMOLOGY
    Homologene
    FAMILY
  • plakin or cytolinker family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,desmosome
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,intermed filament
    text hemidesmosomes at Z-lines of striated muscles, dense plaques of smooth muscles
    basic FUNCTION
  • involved in the structural organization of the blood-brain barrier and the leptomeninges
  • versatile intermediate filament (IF)-bound cytolinker protein with a variety of differentially spliced isoforms accounting for its multiple functions
  • plays an important role in CXCR4 signaling and trafficking and HIV-1 infection
  • important role for mechanical properties, stress propagation, and prestress of living cells, thereby influencing their biological functions
  • versatile cytoplasmic cross-linking protein that connects intermediate filaments to microfilaments, microtubules, and membrane adhesion sites
  • acts as a cytolinker for the three major components of the cyotoskeleton, namely actin microfilaments, microtubules and intermediate filaments
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS nervous system
    text tissue structural organization
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with integrin beta 4 in hemidesmosomes and with desmoplakin
  • BRCA2 interacts with plectin (interaction playing an important role in the regulation of centrosome localization and displacement of the centrosome may result in genomic instability and cancer development)
  • interact with CXCR4
  • interaction between the FUS N-terminal and the cytolinker plectin (PLEC is important for normal FUS localization and function)
  • SYNE3 is a nuclear envelope protein that connects the nucleus to intermediate filaments by interacting with PLEC
  • PLEC is a molecular partner of SH3GLB2 SH3 domain
    • cell & other
  • intermediate filament binding
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EBS1 , EBSMD , LGMD2Q
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS