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FLASH GENE
Symbol ADCY6 contributors: mct - updated : 14-10-2014
HGNC name adenylate cyclase 6
HGNC id 237
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six N-terminal transmembrane fragments
  • one guanylate cyclase domain
  • a DUF1053 domain
  • six C-terminal transmembrane fragments
  • one guanylate cyclase domain
    • secondary structure
    conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • adenyl cyclase class 4/guanylyl cyclase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text integral membrane protein
    basic FUNCTION
  • adenylyl cyclase, type VI, catalyzing the formation of the secondary messenger cyclic adenosine monophosphate (cAMP)
  • critical regulator of metabolic and cardiovascular function
  • essential and so far unknown role of ADCY6 in PNS myelination likely through the cAMP pathway
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling signal transduction
    a component
  • ADCY5 and ADCY6 interact with-A-kinase anchoring frotein AKAP5 in a complex which associates with PRKA
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • stimulated byG protein betagamma
  • ADCY6 was physically associated with PHLPP2, which prevents PHLPP2-mediated AKT1 dephosphorylation
  • interacting with SNAPIN (interaction domains of ADCY6 and snapin were located within amino acids 1 to 86 of ADCY6 approximately and 33-51 of SNAPIN)
  • ADCY6, an enzyme which catalyzes cAMP synthesis, regulates neurite outgrowth by direct interaction with a binding protein (SNAPIN) of SNAP25 at the N terminus of ADCY6 (AC6-N)
  • the overexpression of SNAP25 completely reversed the action of ADCY6
  • repression of ADCY6 by BICC1 might explain why cysts in ADPKD patients preferentially arise from distal tubules
    • cell & other
    REGULATION
    inhibited by calcium in the submicromolar concentration range
    repressed by BICC1
    ASSOCIATED DISORDERS
    corresponding disease(s) LCCS8
    Susceptibility to greater vascular sensitivity to the beta-adrenergic agonist isoproterenol
    Variant & Polymorphism other
  • ADCY6 polymorphisms may influence sickle cell disease severity through the mechanism of sickle red cell adhesion
  • genetic variant ADCY6 S674 had significantly greater vascular sensitivity to the beta-adrenergic agonist isoproterenol
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS