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FLASH GENE
Symbol DTNA contributors: mct - updated : 10-09-2013
HGNC name dystrobrevin, alpha
HGNC id 3057
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