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FLASH GENE
Symbol CHRNB1 contributors: mct - updated : 12-01-2016
HGNC name cholinergic receptor, nicotinic, beta 1 (muscle)
HGNC id 1961
Corresponding disease
CMS2A congenital myasthenic syndrome, type IIB
CMS2C myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency
Location 17p13.1      Physical location : 7.348.405 - 7.360.931
Synonym name
  • acetylcholine receptor protein, beta chain precursor
  • cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)
  • Synonym symbol(s) CHRNB, ACHRB, SCCMS, CMS1D
    DNA
    TYPE functioning gene
    STRUCTURE 12.53 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map see CHRNE
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2437 - 501 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    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, and AAs in the extracellular domain show relatively weak changes in interactions with the local environment during channel gating
  • four transmembrane (4TM) segments with the M2 domain comprising the cation-selective pore
  • HOMOLOGY
    interspecies ortholog to murine Chrnb1
    Homologene
    FAMILY cholinergic receptor family
    CATEGORY receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
        intracellular
    basic FUNCTION
  • cholinergic receptor, nicotinic
  • ligand gated ion channel activity
  • involved in muscle contraction and in synaptic transmission
  • after binding acetylcholine, involved in opening of an ion-conducting channel across the plasma membrane (through an extensive change in conformation that affects all
  • subunits )
  • is passive in the transfer of the energy of binding from the extracellular domain (ECD) to the channel gate
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text cation transport
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • beta polypeptide component of the muscle acetylcholine receptor, composed of five subunits (two alpha, one beta, one gamma or epsilon, and one delta)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMS2A , CMS2C
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in benign and malignant mixed odontogenic tumours
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS