Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol DST contributors: mct - updated : 24-04-2012
HGNC name dystonin
HGNC id 1090
Corresponding disease
EBS6 Epidermolysis bullosa simplex on chromosome 6
Location 6p12.1      Physical location : 56.322.786 - 56.507.694
Synonym name
  • hemidesmosomal plaque protein
  • bullous pemphigoid antigen 1, 230/240kDa
  • dystonin, neural isoforms of the hemidesmosomal protein bullous antigen 1 (BPAG1), homolog of mouse
  • spectraplakin
  • Synonym symbol(s) BPA, BP240, CATX-15, D6S1101, BPAG1, FLJ13425, FLJ32235, FLJ30627, CATX-15, DKFZp564B2416, KIAA0465, KIAA1470, MACF2
    DNA
    TYPE functioning gene
    STRUCTURE 496.64 kb     86 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text 3' exons of the dystonin (see DMH) transcripts are identical to some of the 5' exons of the BPAG1 transcripts
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 splicing 9006 - 2649 - 2009 19403692
  • variant (1e)
  • is required for efficient regulation of keratinocyte polarity and migration by determining the activation of RAC1
  • 86 splicing 16652 590.9 5171 - 2002 11751855
  • isoform 1eA precursor
  • two EF-hand calcium-binding domains,a SH3 domain and 29 spectrin repeats
  • - splicing 9348 345 3062 - 2002 11751855
    94 splicing 18048 - 5497 neural tissues and muscles 2002 11751855
  • isoform 1 (BPAG1n1)
  • partial
  • see DMH
  • having an actin binding domain at the N-terminal
  • 97 splicing 18103 - 5675 neural tissues and muscles 2012 22190742
  • isoform 2 (BPAG1n2)
  • see DMH
  • having an actin binding domain at the N-terminal
  • role for dystonin-a2 as a mediator of normal ER structure and function
  • - splicing - - 2704 - 2002 11751855
    - splicing - - 2950 - 2002 11751855
    partial
    - splicing - - 2586 pancreas,epidermis 2002 11751855
    partial
    - splicing - - 5138 - 2002 11751855
    - splicing - - 1788 - 2002 11751855
    95 - 17774 - 5537 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   highly
    Endocrinepancreas    
    Nervousgangliasensory ganglia    Homo sapiens
    Reproductivemale systemprostate   
    Respiratorylung    
    Skin/Tegumentskin    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • globular N terminus with an acting binding domain
  • a central alpha helical coiled coil (rod) domain
  • a C-terminal tail consisiting of characteristic repeat sequences
  • eleven plectin repeats
  • a SH3 domain
  • four spectrin repeats
  • binding sites for both F-actin via its calponin homology (CH) domains and MTs via its GAS2-related (GAR) domain and/or GSR repeats
  • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to murine dystonia musculorum gene (Dst)
    ortholog to murine cytoskeletal linker Bpag1
    homolog to C.elegans C50C3.2
    Homologene
    FAMILY
  • plakin protein family of adhesion junction plaque proteins
  • cytolinker family
  • CATEGORY adhesion , antigen
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,desmosome
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,vesicle
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,cytoplasm,cytoskeleton,intermed filament
    intracellular,nuclear envelope
    text
  • hemidesmosomes
  • in sensory neurons localized in association with the ER and nuclear envelope (NE)
  • basic FUNCTION
  • acting as a cytoskeletal linker protein
  • cytoskeletal interacting proteins play important roles in maintaining cytoarchitecture integrity in skin and in the neuromuscular system
  • is a necessary endoplasmic reticulum/nuclear envelope protein in sensory neurons
  • large multidomain cytoskeletal-associated protein that plays an essential role in the nervous system
  • CELLULAR PROCESS cell cycle
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    text
  • cytoskeleton organization and biogenesis, cell cycle arrest
  • PATHWAY
    metabolism
    signaling
    a component
  • constituent of cutaneous basement membrane zone
  • component of hemidesmosome plaque
  • forming filaments or a two-dimensional meshwork by self-aggregation
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
    calcium Ca2+
    protein
  • binding to keratin intermediate filaments, actin
  • interacting with COL17A1 (may help to anchor elements of the rod photoreceptor cytomatrix to the extracellular matrix)
  • MAP1B, a microtubule stabilizing protein, and CLTC, the major component of the clathrin triskelion, are interaction partners for DST
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EBS6
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
             
    -
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • coding a glycoprotein that serves as an autoantigen in the blistering disease bullous pemphigoid
  • Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice defective for this protein have sensory neurodegeneration
  • protein level of BPAG1-b was reduced in muscle tissues from plectin-null mutant mice versus wild-type mice