Version: 8.0.0
Date: Tue Jan 28 2025
CHRNB1
Homo sapiensHGNC:1961
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

CHRNB1

Species
Homo sapiens
Symbol
CHRNB1
Name
cholinergic receptor nicotinic beta 1 subunit
Synonyms
  • acetylcholine receptor subunit beta
  • acetylcholine receptor, nicotinic, beta 1 (muscle)
Biotype
protein coding gene
Automated Description
Enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential. Contributes to acetylcholine receptor activity. Involved in several processes, including behavioral response to nicotine; chemical synaptic transmission; and postsynaptic membrane organization. Located in synapse. Part of acetylcholine-gated channel complex. Is active in neuromuscular junction. Implicated in congenital myasthenic syndrome 2A and congenital myasthenic syndrome 2C.
RGD Description
The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR18945
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

        Model name
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        Associated Human Diseases
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          CHRNB1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
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            Genetic Interactions

            CHRNB1 role
            CHRNB1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
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