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FLASH GENE
Symbol CHRNA5 contributors: mct/npt - updated : 28-01-2020
HGNC name cholinergic receptor, nicotinic, alpha 5
HGNC id 1959
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a large N terminal extracellular domain
  • two agonist binding sites
  • four transmembrane (4TM) segments with the M2 domain comprising the cation-selective pore
    • HOMOLOGY
    Homologene
    FAMILY
  • cholinergic receptor family
  • ligand gated ion channel family
    • CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • after binding acetylcholine, responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane
  • involved in susceptibility to alcohol dependence (Joslyn 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • composed of two different type of subunits: alpha and non-alpha
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to lung cancer
  • to alcohol and nicotine use disorders
  • to nicotine dependence and lung cancer (Spitz 2008)
  • to chronic obstructive pulmonary disease (COPD)
    • Variant & Polymorphism SNP
  • rs8034191
  • variants were associated with higher risks of lung cancer in lower smoking-exposed strata, and in individuals with a strong family history of lung or smoking-related cancers (Spitz 2008)
    • Candidate gene for low penetrance, high-frequency lung cancer susceptiblity genes
    Marker
    Therapy target
    ANIMAL & CELL MODELS