U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Nucleotide

    • Showing Current items.

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

    Gene ID: 11448, updated on 2-Nov-2024

    Summary

    Go to the top of the page Help
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See Chrne in Genome Data Viewer
    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_000077.7Genomic Context describing neighboring genes Neighboring gene phospholipase D2 Neighboring gene misshapen-like kinase 1 (zebrafish) Neighboring gene STARR-seq mESC enhancer starr_29877 Neighboring gene predicted gene, 51905 Neighboring gene RIKEN cDNA 4930544D05 gene Neighboring gene predicted gene 12315 Neighboring gene glycoprotein 1b, alpha polypeptide

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: Mouse ENCODE transcriptome data 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition. Cossins J, et al. Hum Mol Genet, 2004 Dec 1. PMID 15471888
    2. Selective expression of an acetylcholine receptor-lacZ transgene in synaptic nuclei of adult muscle fibers. Sanes JR, et al. Development, 1991 Dec. PMID 1811935
    3. Identification of two amino acid residues in the epsilon subunit that promote mammalian muscle acetylcholine receptor assembly in COS cells. Gu Y, et al. Neuron, 1991 Jun. PMID 2054186
    4. Nucleotide sequence of the epsilon-subunit of the mouse muscle nicotinic acetylcholine receptor. Gardner PD. Nucleic Acids Res, 1990 Nov 25. PMID 2251144, Free PMC Article
    5. Cell type- and differentiation-dependent expression from the mouse acetylcholine receptor epsilon-subunit promoter. Sunyer T, et al. J Neurosci Res, 1993 Oct 1. PMID 8263973

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    Submit: New GeneRIF Correction

    Variation

    Go to the top of the page Help

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (2) 
    • Targeted (5)  1 citation

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    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 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
    		  
    enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential ISS
    Inferred from Sequence or Structural Similarity
    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 excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    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
    		  
    involved_in monoatomic ion transmembrane 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
    		  
    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

    Go to the top of the page Help
    Preferred Names
    acetylcholine receptor subunit epsilon
    Names
    AchR epsilon subunit
    nicotinic acetylcholine receptor epsilon subunit

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_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

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      70505709..70510074 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    3. 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

    4. 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

    RNA

    1. XR_004936687.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P20782.1 GenPept UniProtKB/Swiss-Prot:P20782

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous