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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
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