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FLASH GENE
Symbol CHRNA1 contributors: mct - updated : 12-01-2016
HGNC name cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)
HGNC id 1955
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a large N terminal extracellular domain including two agonist binding sites
  • four transmembrane segments (4TM) with the M2 domain comprising the cation-selective pore
    • conjugated GlycoP
    mono polymer heteromer , pentamer
    HOMOLOGY
    interspecies ortholog to rattus Chrna1
    ortholog to murine Chrna1
    Homologene
    FAMILY
  • cholinergic receptor family
  • ligand-gated ionic channel (TC 1.A.9) family
    • CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • postsynaptic membrane
  • integral to membrane
    • basic FUNCTION
  • ligand gated ion channel
  • involved in muscle contraction
  • target of pathogenic auto-antibodies in autoimmune myasthenia gravis
  • fibroblast CHRNA1 binds urokinase and promotes renal fibrosis
  • is an important regulator of calpain-1 activation and inflammation in the chronic hypercholesterolemic nephropathy
  • plays a significant role at the artery wall, and reducing its expression decreases aortic plaque development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • ion transport
    • PATHWAY
    metabolism
    signaling
    a component
  • pentamer of two alpha chains, and one each of the beta, delta, and gamma (in immature muscle) or epsilon (in mature muscle) chains
    • INTERACTION
    DNA
    RNA
    small molecule other,
  • acetylcholine (producing an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane)
    • protein
  • binding IRF8
  • caveolin-3 is a critical component of the signaling machinery that drives CHRNA1 clustering and controls neuromuscular junction function
  • AGRN induces association of CHRNA1 mRNA and nicotinic acetylcholine receptor in C2C12 myotubes
  • HNRNPL and HNRNPLL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMS1A , MPTLT3
    Susceptibility to autoimmune myasthenia
    Variant & Polymorphism other a functional bi-allelic variant in the promoter that is associated with early onset of autoimmune myasthenia (variant prevents binding of IRF8 and abrogates CHRNA1 promoter activity in thymic epithelial cells)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • AChR-alpha mRNA is over-expressed in muscle from mice with moderate to severe myasthenia gravis