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Chrnb1 cholinergic receptor nicotinic beta 1 subunit [ Mus musculus (house mouse) ]

Gene ID: 11443, updated on 18-Apr-2024

Summary

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Official Symbol
Chrnb1provided by MGI
Official Full Name
cholinergic receptor nicotinic beta 1 subunitprovided by MGI
Primary source
MGI:MGI:87890
See related
Ensembl:ENSMUSG00000041189 AllianceGenome:MGI:87890
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Acrb; Achr-2
Summary
Enables acetylcholine binding activity and acetylcholine-gated cation-selective channel activity. Acts upstream of or within regulation of membrane potential. Located in plasma membrane. Is integral component of postsynaptic specialization membrane. Part of acetylcholine-gated channel complex. Is active in neuromuscular junction. Is expressed in several structures, including forelimb bud; limb segment; lung; paraxial mesenchyme; and skeletal musculature. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 2A and congenital myasthenic syndrome 2C. Orthologous to human CHRNB1 (cholinergic receptor nicotinic beta 1 subunit). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in limb E14.5 (RPKM 18.2), lung adult (RPKM 13.4) and 21 other tissues See more
Orthologs
human all
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Genomic context

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Location:
11 B3; 11 42.87 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (69674862..69686742, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (69784036..69795966, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene solute carrier family 35, member G3 Neighboring gene zinc finger and BTB domain containing 4 Neighboring gene STARR-seq mESC enhancer starr_29866 Neighboring gene STARR-seq mESC enhancer starr_29867 Neighboring gene STARR-positive B cell enhancer ABC_E7006 Neighboring gene fibroblast growth factor 11 Neighboring gene RIKEN cDNA G630025P09 gene Neighboring gene transmembrane protein 102

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Energetic contributions to channel gating of residues in the muscle nicotinic receptor β1 subunit. Akk G, et al. PLoS One, 2013. PMID 24194945, Free PMC Article
  2. Synaptic differentiation is defective in mice lacking acetylcholine receptor beta-subunit tyrosine phosphorylation. Friese MB, et al. Development, 2007 Dec. PMID 17959719
  3. Loss of mitochondrial protein CHCHD10 in skeletal muscle causes neuromuscular junction impairment. Xiao Y, et al. Hum Mol Genet, 2020 Jul 21. PMID 31261376
  4. Regulation of muscle acetylcholine receptor turnover by β subunit tyrosine phosphorylation. Rudell JB, et al. Dev Neurobiol, 2013 May. PMID 23325468
  5. Acetylcholine receptor clustering is required for the accumulation and maintenance of scaffolding proteins. Bruneau EG, et al. Curr Biol, 2008 Jan 22. PMID 18207744

See all (75) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Loss of mitochondrial protein CHCHD10 in skeletal muscle causes neuromuscular junction impairment.
    Title: Loss of mitochondrial protein CHCHD10 in skeletal muscle causes neuromuscular junction impairment.
  2. Conformational changes involved in channel gating propagate from the binding-site to the channel in the ACh-binding subunits and subsequently spread to the non-binding subunit.
    Title: Energetic contributions to channel gating of residues in the muscle nicotinic receptor β1 subunit.
  3. These findings identify novel Golgi retention signals in the beta and delta subunit loops that regulate surface trafficking of assembled AChR and may help prevent surface expression of unassembled subunits.
    Title: Determinants in the β and δ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor.
  4. The metabolic stabilization of the AChR by agrin or pervanadate was mediated specifically by phosphorylation of betaY390.
    Title: Regulation of muscle acetylcholine receptor turnover by β subunit tyrosine phosphorylation.
  5. The local anaesthetics proadifen and adiphenine inhibit nicotinic receptors by different molecular mechanisms.
    Title: The local anaesthetics proadifen and adiphenine inhibit nicotinic receptors by different molecular mechanisms.
  6. In V266M mutant the peak-current amplitude decreases along trains of nearly saturating ACh pulses delivered at physiologically relevant frequencies, consistent with enhanced entry into desensitization in congenital myasthenic syndrome.
    Title: Decremental response to high-frequency trains of acetylcholine pulses but unaltered fractional Ca2+ currents in a panel of "slow-channel syndrome" nicotinic receptor mutants.
  7. Tyrosine phosphorylation of the acetylcholine receptor (AChR) beta-subunit is important in organizing AChRs and regulating synaptic differentiation.
    Title: Synaptic differentiation is defective in mice lacking acetylcholine receptor beta-subunit tyrosine phosphorylation.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (6) 
  • Targeted (1)  1 citation

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables acetylcholine binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables acetylcholine receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to acetylcholine receptor activity ISO
Inferred from Sequence Orthology
more info
  
enables acetylcholine-gated monoatomic cation-selective channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to acetylcholine-gated monoatomic cation-selective channel activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
enables acetylcholine-gated monoatomic cation-selective channel activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
enables acetylcholine-gated monoatomic cation-selective channel activity ISO
Inferred from Sequence Orthology
more info
  
enables channel activity ISO
Inferred from Sequence Orthology
more info
  
enables extracellular ligand-gated monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
  
enables ligand-gated monoatomic ion channel activity ISO
Inferred from Sequence Orthology
more info
  
enables monoatomic ion channel activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane signaling receptor activity IEA
Inferred from Electronic Annotation
more info
  
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in acetylcholine receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in behavioral response to nicotine ISO
Inferred from Sequence Orthology
more info
  
involved_in chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in membrane depolarization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in monoatomic cation transport ISO
Inferred from Sequence Orthology
more info
  
involved_in monoatomic ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in muscle cell development ISO
Inferred from Sequence Orthology
more info
  
involved_in muscle contraction ISO
Inferred from Sequence Orthology
more info
  
involved_in nervous system process ISO
Inferred from Sequence Orthology
more info
  
involved_in neuromuscular synaptic transmission ISO
Inferred from Sequence Orthology
more info
  
involved_in postsynaptic membrane organization ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of membrane potential IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in signal transduction ISO
Inferred from Sequence Orthology
more info
  
involved_in skeletal muscle contraction ISO
Inferred from Sequence Orthology
more info
  
involved_in synaptic transmission, cholinergic ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
part_of acetylcholine-gated channel complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of acetylcholine-gated channel complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of acetylcholine-gated channel complex ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in neuromuscular junction IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in neuromuscular junction ISO
Inferred from Sequence Orthology
more info
  
is_active_in neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in postsynaptic specialization membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in synapse IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in synapse ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
acetylcholine receptor subunit beta
Names
AChR beta
acetylcholine receptor beta
cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001417252.1 → NP_001404181.1  acetylcholine receptor subunit beta isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AL603707

  2. NM_001417253.1 → NP_001404182.1  acetylcholine receptor subunit beta isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL603707

  3. NM_009601.5 → NP_033731.3  acetylcholine receptor subunit beta isoform 1 precursor

    See identical proteins and their annotated locations for NP_033731.3

    Status: VALIDATED

    Source sequence(s)
    AL603707
    Consensus CDS
    CCDS24910.1
    UniProtKB/Swiss-Prot
    P09690, Q5F292
    UniProtKB/TrEMBL
    Q8CG00
    Related
    ENSMUSP00000047270.9, ENSMUST00000045971.9
    Conserved Domains (3) summary
    TIGR00860
    Location:24 → 488
    LIC; Cation transporter family protein
    pfam02931
    Location:27 → 245
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:252 → 487
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RNA

  1. NR_184437.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL603707

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    69674862..69686742 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P09690.1 GenPept UniProtKB/Swiss-Prot:P09690

Gene LinkOut

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