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FLASH GENE
Symbol PLEC contributors: mct - updated : 12-11-2014
HGNC name plectin
HGNC id 9069
Corresponding disease
EBS1 epidermolysis bullosa simplex, Ogna type
EBSMD epidermolysis bullosa simplex and limb-girdle muscular dystrophy
LGMD2Q limb girdle muscular dystrophy 2 Q
Location 8q24.3      Physical location : 144.989.320 - 145.050.913
Synonym name
  • hemidesmosomal protein 1
  • plectin 1, intermediate filament binding protein 500kDa
  • Synonym symbol(s) PCN, PLCT, PLTN, PLEC1, PLEC1b, HD1
    DNA
    TYPE functioning gene
    STRUCTURE 61.59 kb     32 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text exons 232 are constant exons, but has eight alternative first exons that are spliced into a common exon 2 (PMID: 21109228)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    32 splicing 14798 - 4574 - 2007 17389230
    also called variant 1/isoform 1c
    32 splicing 14720 - 4547 substantially expressed in muscle tissue 2008 18541706
  • also called variant 8/isoform 1b
  • colocalizes with mitochondria, which plays a role for organelle shaping and forms a network between mitochondria and the cytoskeleton
  • inserted into the outer mitochondrial membrane with the exon 1b-encoded N-terminal sequence serving as a mitochondrial targeting and anchoring signal
  • 32 splicing 15249 - 4684 substantially expressed in muscle tissue 2007 17389230
    also called variant 6/isoform 1
    32 splicing 14646 - 4515 substantially expressed in muscle tissue 2007 17389230
  • also called variant 7/isoform d
  • associated with Z-disks
  • 32 splicing 14751 - 4525 - 2007 17389230
    also called variant 3/isoform e
    32 splicing 14683 - 4533 concentrated in vinculin-positive structure at actin stress fiber ends 2010 21109228
  • also called variant 2/isoform 1f
  • plays a key role in skeletal muscle function
  • 32 - 14689 - 4551 - 2007 17389230
    also called variant 10/isoform g
    32 splicing 14797 - 4547 - 2010 21109228
  • also called variant 11/isoform a
  • associates with keratin intermediate filaments in basal keratinocytes, which supports the association of plectin deficiencies with skin disorders
  • disruption of the plectin 1f can cause the LGMD2 phenotype without any dermatologic component
  • sarcolemma-associated isoform localized at costameres
  • EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Nervousbrain    
     spinal cord    
    Skin/Tegumentskin   highly Homo sapiens
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmooth   
    Muscularstriatumskeletal lowly Homo sapiens
    Nervousperipherous    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductiveepithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    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