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FLASH GENE
Symbol DTNA contributors: mct - updated : 10-09-2013
HGNC name dystrobrevin, alpha
HGNC id 3057
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Digestiveliver   lowly
Endocrinepancreas   lowly
 thyroid   highly
Nervousbrain   highly Homo sapiens
Reproductivefemale systembreastmammary gland highly
Respiratorylung   lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousastrocyte
Nervousglia Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • zinc binding domain
  • CREB binding domain
  • coiled coil domain
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to the Torpedo Californica post-synaptic 87kDa phosphoprotein
    intraspecies homolog to dystrophin,to DTNB
    Homologene
    FAMILY
  • dystrophin family
  • dystrobrevin subfamily
  • CATEGORY motor/contractile , signaling neurotransmitter
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text
  • sarcolemma
  • specifically associated with the tight junctions during their reorganization
  • basic FUNCTION
  • maintenance of muscles integrity during the mechanical stresses of contraction and relaxation
  • involved in the formation and stability of the synapses
  • may be involved in signal transduction in myeloid cells during induction of granulocytic differentiation at the commitment stage of the phagocytic cells. required for anchorage of the syntrophin-dystrobrevin subcomplex and suggest that expression of the syntrophin-dystrobrevin complex may be independently regulated through neuromuscular transmission
  • possibility that effects on DTNA splicing may influence signaling in DM1 muscle cells
  • plays a role in a structure or regulation mechanism unique to melanin-concentrating hormone-expressing neurons
  • protein contributing to dystrophin-associated protein scaffolds in astrocytic endfeet, essential for the formation and functioning of blood-brain barrier
  • central organizer of dystrophin-associated protein in glial endfeet and a rare example of a glial protein with a role in maintaining blood-brain barrier
  • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS locomotion
    text muscle action
    PATHWAY
    metabolism
    signaling neurotransmission , signal transduction
    a component
  • component of the dystrophin glycoprotein complex with dystrophin, syntrophins and DTNBP1 (expression of the syntrophin-dystrobrevin complex may be independently regulated through neuromuscular transmission)
  • interacting directly by its N terminus to sarcoglycan-sarcospan complex and so linking SGC-SNP complex to NOS via SNTA1 (alpha syntrophin)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to dystrophin, utrophin, syntrophin, dysbindin (in the brain)
  • bind directly to dystrophin and are components of a transmembrane dystrophin-glycoprotein complex (DGC) that links the cytoskeleton to extracellular proteins in many tissues
  • recruits alpha-catulin (CTNNAL1) to the ADRA1D/dystrophin-associated protein complex signalosome
  • NRG/ERBB signaling maintains high efficacy of synaptic transmission by stabilizing the postsynaptic apparatus via phosphorylation of DTNA
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BTHS2 , LVNC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • synaptic and behavioral abnormalities are minimal in mice lacking either Dtna or Dtnb