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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
    Physical map
    DERP6 17p13.2 S-phase 2 protein CLDN7 17p13.1 claudin 7 SLC2A4 17p13.1 solute carrier family 2 (facilitated glucose transporter), member 4 YBX2 17p11.2-p13.1 germ cell specific Y-box binding protein EIF5A 17p13-p12 eukaryotic translation initiation factor 5A GPS2 17p13 G protein pathway suppressor 2 LOC390760 17 similar to RIKEN cDNA 2810408A11 CENTB1 17p13.2 centaurin, beta 1 KCTD11 17p13.2 potassium channel tetramerisation domain containing 11 LOC339168 17p13.2 hypothetical protein LOC339168 TNK1 17p13.1 tyrosine kinase, non-receptor, 1 PLSCR3 17p13.2 phospholipid scramblase 3 MGC40107 17p13.2 hypothetical protein MGC40107 NLGN2 17p13 neuroligin 2 LOC374768 17p13.2 hypothetical protein LOC374768 LOC201243 17p13.2 hypothetical protein LOC201243 LOC388329 17 similar to ENSANGP00000015193 FLJ36878 17p13.2 hypothetical protein FLJ36878 LOC388330 17 LOC388330 FGF11 17p13.1 fibroblast growth factor 11 CHRNB1 17p13.1 cholinergic receptor, nicotinic, beta polypeptide 1 (muscle) ZBTB4 17p13.2 zinc finger and BTB domain containing 4 POLR2A 17p13.1 polymerase (RNA) II (DNA directed) polypeptide A, 220kDa
    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