Chrne cholinergic receptor, nicotinic, epsilon polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Chrneprovided by MGI
Official Full Name: cholinergic receptor, nicotinic, epsilon polypeptideprovided by MGI
Primary source: MGI:MGI:87894
See related: Ensembl:ENSMUSG00000014609 AllianceGenome:MGI:87894
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: Acre; nAChRE; AChrepsilon
Summary: This gene encodes the epsilon subunit of the muscle-derived nicotinic acetylcholine receptor, a pentameric neurotransmitter receptor and member of the ligand-gated ion channel superfamily. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. In mice, deficiency of this gene can lead to a decline in the number of nicotinic acetylcholine receptors at neuromuscular junctions and causes progressive muscle weakness, atrophy and premature death. Mutations in this gene serve as a pathophysiological model for human congenital myasthenia. Several alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Nov 2012]
Expression: Restricted expression toward testis adult (RPKM 26.9) See more
Orthologs: human all
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Genomic context

Location:: 11 B3; 11 43.14 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (70505709..70510074, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (70614883..70619213, 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?

a pattern of histone modifications associated with transcriptional activation is targeted to the AChR epsilon subunit locus in myotubes prior to stimulation
Title: Chromatin modifications that support acetylcholine receptor gene activation are established during muscle cell determination and differentiation.
analysis of symmetry at the extracellular domain-transmembrane domain interface in acetylcholine receptor channel gating
Title: Subunit symmetry at the extracellular domain-transmembrane domain interface in acetylcholine receptor channel gating.
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 L221F, T264P, L269F mutants 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.
CDK2 is an intermediate molecule that integrates neuregulin-activated signals from both the MAPK and PI3K pathways to AChRepsilon expression
Title: Novel role for cyclin-dependent kinase 2 in neuregulin-induced acetylcholine receptor epsilon subunit expression in differentiated myotubes.

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Variation

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Alleles

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

Targeted (5) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (2)

General gene information

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Markers

Chrne (e-PCR), detects polymorphism
- UniSTS:531497

NoName (e-PCR)
- UniSTS:489113

J04698 (e-PCR)
- UniSTS:124855

D11Mit210 (e-PCR), detects polymorphism
- UniSTS:126413

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables acetylcholine receptor 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	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 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 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
acts_upstream_of_or_within regulation of membrane potential	IGI Inferred from Genetic Interaction more info	PubMed
involved_in skeletal muscle contraction	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	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 postsynaptic membrane	IDA Inferred from Direct Assay more info	PubMed
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 epsilon

Names: AchR epsilon subunit; nicotinic acetylcholine receptor epsilon subunit

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_009603.1 → NP_033733.1 acetylcholine receptor subunit epsilon precursor

See identical proteins and their annotated locations for NP_033733.1

Status: REVIEWED

Source sequence(s)

X55718

Consensus CDS

CCDS24956.1

UniProtKB/Swiss-Prot

P20782

Related

ENSMUSP00000099616.4, ENSMUST00000102556.10

Conserved Domains (3) summary

TIGR00860
Location:17 → 475

LIC; Cation transporter family protein

pfam02931
Location:24 → 240

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:247 → 474

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

70505709..70510074 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036156232.1 → XP_036012125.1 acetylcholine receptor subunit epsilon isoform X3

Conserved Domains (2) summary

cl28912
Location:49 → 187

LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))

pfam02932
Location:195 → 423

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
XM_006532007.5 → XP_006532070.1 acetylcholine receptor subunit epsilon isoform X2

See identical proteins and their annotated locations for XP_006532070.1

Conserved Domains (2) summary

cd19030
Location:49 → 239

LGIC_ECD_nAChR_E; extracellular domain of nicotinic acetylcholine receptor subunit epsilon (CHRNE)

pfam02932
Location:247 → 420

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
XM_006532006.5 → XP_006532069.1 acetylcholine receptor subunit epsilon isoform X1

See identical proteins and their annotated locations for XP_006532069.1

UniProtKB/TrEMBL

Q5SXG9

Related

ENSMUSP00000014753.9, ENSMUST00000014753.9

Conserved Domains (2) summary

cd19030
Location:49 → 239

LGIC_ECD_nAChR_E; extracellular domain of nicotinic acetylcholine receptor subunit epsilon (CHRNE)

pfam02932
Location:247 → 474

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
XM_036156233.1 → XP_036012126.1 acetylcholine receptor subunit epsilon isoform X4

Conserved Domains (4) summary

cd03558
Location:148 → 162

LGIC_ECD; Cys-loop [structural motif]

cd03559
Location:241 → 265

LGIC_TM; TM1 helix [structural motif]

cl28912
Location:49 → 239

LGIC_ECD; extracellular domain (ECD) of Cys-loop neurotransmitter-gated ion channels (also known as ligand-gated ion channel (LGIC))

cl38911
Location:241 → 268

LGIC_TM; transmembrane domain of Cys-loop neurotransmitter-gated ion channels