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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
Corresponding disease
CMS1A congenital myasthenic syndrome, type I A
MPTLT3 multiple pterygium syndrome, lethal type 3
Location 2q31.1      Physical location : 175.612.322 - 175.629.200
Synonym name
  • nicotinic acetlycholine receptor
  • nicotinic acetylcholine receptor alpha subunit
    • Synonym symbol(s) CHRNA, ACHRA, ACHRD, FCCMS, SCCMS, nAChRA1
    DNA
    TYPE functioning gene
    STRUCTURE 16.88 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text
  • a second transcript produced by the insertion of a novel exon coding for 25 amino acids (Beeson 90)
  • in human muscle the CHRNA1 subunit is found in two isoforms, one being homologous to that expressed in other species, and the other containing an exon termed P3A (PMID: 19609914)
  • harbors an inframe exon P3A, and inclusion of exon P3A disables assembly of the acetylcholine receptor subunits (PMID: 24121633)
    • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2094 - 482 expressed in the normal and in nonneoplastic thymus glands of myasthenic patients, but is absent or rarely expressed14 in thymomas 2013 24121633
  • transcript with exon P3A, P3A(+), harboring 25 extra AAs and inserted between codons 58 and 59 in the extracellular domain of the alpha subunit
    • 9 - 2019 - 457 - 2013 24121633
  • transcript without exon P3A, P3A(&
    • 8722;), encoding a functional alpha subunit that incorporates into functional AChR at the endplate
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  specific
    Respiratoryrespiratory tractlarynx  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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