Chrna1 cholinergic receptor nicotinic alpha 1 subunit [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Chrna1provided by MGI
Official Full Name: cholinergic receptor nicotinic alpha 1 subunitprovided by MGI
Primary source: MGI:MGI:87885
See related: Ensembl:ENSMUSG00000027107 AllianceGenome:MGI:87885
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Acra; Achr-1
Summary: This gene encodes an alpha subunit of the muscle-derived nicotinic acetylcholine receptor, a pentameric neurotransmitter receptor and member of the ligand-gated ion channel superfamily. The alpha subunit plays a role in substrate binding and channel gating. [provided by RefSeq, Nov 2012]
Expression: Biased expression in limb E14.5 (RPKM 3.2), testis adult (RPKM 1.0) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 C3; 2 43.76 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (73393625..73410682, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (73563281..73580338, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

PAI1 inhibits the pathogenesis of primary focal hyperhidrosis by targeting CHRNA1.
Title: PAI1 inhibits the pathogenesis of primary focal hyperhidrosis by targeting CHRNA1.
A triad of residues aligning to Thr-152, Glu-209, and Lys-211 in Htr3, appear to be involved in side-chain interactions near binding sites in Htr3a (subunit alpha) and muscle-type Chrna1. Data suggest that mutating Htr3a triad to that of Chrna1 increases binding affinity of nicotine to Htr3a. (Htr3 = 5-hydroxytryptamine/serotonin receptor; Chrna1 = cholinergic receptor nicotinic alpha polypeptide 1)
Title: A triad of residues is functionally transferrable between 5-HT(3) serotonin receptors and nicotinic acetylcholine receptors.
The results indicate that in the absence of the alpha1-nAChR subunit, clusters of nAChRs coupled to SK2 potassium channels as well as functional efferent synapses did form, showing that alpha1 is not necessary for these processes to take place.
Title: Assessment of the expression and role of the α1-nAChR subunit in efferent cholinergic function during the development of the mammalian cochlea.
Findings suggest the possible role of controlling localised inflammatory response by parasympathetic cholinergic nerves through a1nAChRs of inflammation sites.
Title: Neuronal control of localized inflammation through expressed nicotinic acetylcholine receptors: a study carried out in mice.
This study demonstrates that genes coding for CHRNA1 subunits may contain variants associated with statin-induced ADRs.
Title: Transgenic mouse model reveals an unsuspected role of the acetylcholine receptor in statin-induced neuromuscular adverse drug reactions.
Chrna1 was co-purified with nicotinic acetylcholine receptor (AChR) in C2C12 myotubes. In addition, Stau1 was found to interact with Chrna1 mRNA, and knocking down of Stau1 by RNAi resulted in defective AChR clustering.
Title: Agrin induces association of Chrna1 mRNA and nicotinic acetylcholine receptor in C2C12 myotubes.
These results suggest that in skeletal muscle cells, neural activity reduces the molar ratio of YB-1 relative to its binding AChR alpha mRNA, leading to an increase of ribosome binding to the mRNA, and thus activating translation.
Title: Translational level of acetylcholine receptor α mRNA in mouse skeletal muscle is regulated by YB-1 in response to neural activity.
Chrna1 could be the first transcriptional target of atonal homolog 1 in the inner ear
Title: The α1 subunit of nicotinic acetylcholine receptors in the inner ear: transcriptional regulation by ATOH1 and co-expression with the γ subunit in hair cells.
The nAChRalpha1 gene plays a significant role at the artery wall, and reducing its expression decreases aortic plaque development.
Title: In vivo knockdown of nicotinic acetylcholine receptor α1 diminishes aortic atherosclerosis.
These data identify caveolin-3 as a critical component of the signaling machinery that drives nicotinic acetylcholine receptor clustering and controls neuromuscular junction function.
Title: Caveolin-3 promotes nicotinic acetylcholine receptor clustering and regulates neuromuscular junction activity.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Chrna1 (e-PCR), detects polymorphism
- UniSTS:531496

AI608266 (e-PCR)
- UniSTS:165176

D9Mit34.1 (e-PCR), detects polymorphism
- UniSTS:131903

CHRNA1 (e-PCR), detects polymorphism
- UniSTS:510363

AI385656 (e-PCR)
- UniSTS:178641

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
contributes_to acetylcholine binding	IGI Inferred from Genetic Interaction more info	PubMed
contributes_to acetylcholine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to acetylcholine receptor activity	IDA Inferred from Direct Assay more info	PubMed
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	ISO Inferred from Sequence Orthology more info
enables excitatory extracellular ligand-gated monoatomic ion channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables extracellular ligand-gated monoatomic ion channel activity	IEA Inferred from Electronic Annotation 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	IBA Inferred from Biological aspect of Ancestor 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 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 cellular homeostasis	ISO Inferred from Sequence Orthology more info
involved_in musculoskeletal movement	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuromuscular junction development	ISO Inferred from Sequence Orthology more info
involved_in neuromuscular process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuromuscular synaptic transmission	ISO Inferred from Sequence Orthology more info
involved_in neuron cellular homeostasis	ISO Inferred from Sequence Orthology more info
involved_in neuronal action potential	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of membrane potential	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of membrane potential	ISO Inferred from Sequence Orthology more info
involved_in response to nicotine	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in skeletal muscle tissue growth	ISO Inferred from Sequence Orthology more info
involved_in synaptic transmission, cholinergic	IBA Inferred from Biological aspect of Ancestor 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	IPI Inferred from Physical Interaction more info	PubMed
part_of acetylcholine-gated channel complex	ISO Inferred from Sequence Orthology more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
located_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
located_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 plasma membrane	ISO Inferred from Sequence Orthology more info
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

General protein information

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Preferred Names: acetylcholine receptor subunit alpha

Names: cholinergic receptor, nicotinic, alpha 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_007389.5 → NP_031415.2 acetylcholine receptor subunit alpha precursor

See identical proteins and their annotated locations for NP_031415.2

Status: REVIEWED

Source sequence(s)

AK029177, AL928813, AL928889

Consensus CDS

CCDS16132.1

UniProtKB/Swiss-Prot

P04756

UniProtKB/TrEMBL

Q05A24, Q3V1A2

Related

ENSMUSP00000028515.4, ENSMUST00000028515.4

Conserved Domains (2) summary

pfam02931
Location:24 → 231

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:238 → 446

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region