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

Summary

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

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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)

Targeted (1) 1 citation
Endonuclease-mediated (6)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D0M11Mit29 (e-PCR)
- UniSTS:126497

D11Mit29 (e-PCR), detects polymorphism
- UniSTS:126497

D11Mit30 (e-PCR), detects polymorphism
- UniSTS:126509

NoName (e-PCR)
- UniSTS:224870

Chrnb1 (e-PCR), detects polymorphism
- UniSTS:141006

Chrnb1 (e-PCR), detects polymorphism
- UniSTS:141007

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)

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

Status: VALIDATED

Source sequence(s)

AL603707
NM_001417253.1 → NP_001404182.1 acetylcholine receptor subunit beta isoform 3

Status: VALIDATED

Source sequence(s)

AL603707
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