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    Chrne cholinergic receptor nicotinic epsilon subunit [ Rattus norvegicus (Norway rat) ]

    Gene ID: 29422, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Chrneprovided by RGD
    Official Full Name
    cholinergic receptor nicotinic epsilon subunitprovided by RGD
    Primary source
    RGD:2353
    See related
    EnsemblRapid:ENSRNOG00000003777 AllianceGenome:RGD:2353
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    nAChR
    Summary
    Enables acetylcholine-gated monoatomic cation-selective channel activity. Involved in monoatomic cation transport and skeletal muscle contraction. Part of acetylcholine-gated channel complex. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome; congenital myasthenic syndrome 4A; congenital myasthenic syndrome 4B; and congenital myasthenic syndrome 4C. Orthologous to human CHRNE (cholinergic receptor nicotinic epsilon subunit). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Testes (RPKM 217.3), Muscle (RPKM 38.9) and 5 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Chrne in Genome Data Viewer
    Location:
    10q24
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 10 NC_086028.1 (55829835..55838853, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 10 NC_051345.1 (55331211..55339923, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 10 NC_005109.4 (57238960..57246750, complement)

    Chromosome 10 - NC_086028.1Genomic Context describing neighboring genes Neighboring gene phospholipase D2 Neighboring gene uncharacterized LOC134480817 Neighboring gene misshapen-like kinase 1 Neighboring gene similar to human chromosome 17 open reading frame 107 Neighboring gene glycoprotein Ib platelet subunit alpha Neighboring gene ribosomal protein L36A, pseudogene 2 Neighboring gene solute carrier family 25 member 11

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Calcium-dependent regulation of rat and chick muscle nicotinic acetylcholine receptor (nAChR) gene expression. Walke W, et al. J Biol Chem, 1994 Jul 29. PMID 8034713
    2. Nucleotide sequence of the rat muscle acetylcholine receptor epsilon-subunit. Criado M, et al. Nucleic Acids Res, 1988 Nov 25. PMID 3205730, Free PMC Article
    3. Differential regulation of muscle acetylcholine receptor gamma- and epsilon-subunit mRNAs. Witzemann V, et al. FEBS Lett, 1987 Oct 19. PMID 3666131
    4. Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. Ohno K, et al. Proc Natl Acad Sci U S A, 1995 Jan 31. PMID 7531341, Free PMC Article
    5. A novel mode-of-action mediated by the fetal muscle nicotinic acetylcholine receptor resulting in developmental toxicity in rats. Rasoulpour RJ, et al. Toxicol Sci, 2012 Jun. PMID 22461452

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables acetylcholine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables acetylcholine-gated monoatomic cation-selective channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables acetylcholine-gated monoatomic cation-selective channel activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    contributes_to 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
    		  
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in skeletal muscle contraction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in synaptic transmission, cholinergic IEA
    Inferred from Electronic Annotation
    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 
    located_in neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in postsynaptic specialization membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    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
    acetylcholine receptor epsilon
    cholinergic receptor, nicotinic epsilon
    cholinergic receptor, nicotinic, epsilon (muscle)
    cholinergic receptor, nicotinic, epsilon polypeptide
    epsilon-subunit
    gene for 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)

    1. NM_017194.1 → NP_058890.1  acetylcholine receptor subunit epsilon precursor

      See identical proteins and their annotated locations for NP_058890.1

      Status: PROVISIONAL

      Source sequence(s)
      X74836
      UniProtKB/Swiss-Prot
      P09660, Q6LAD4
      Related
      ENSRNOP00000005050.2, ENSRNOT00000005050.6
      Conserved Domains (3) summary
      TIGR00860
      Location:15 → 476
      LIC; Cation transporter family protein
      pfam02931
      Location:24 → 240
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:247 → 475
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086028.1 Reference GRCr8

      Range
      55829835..55838853 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017597172.3 → XP_017452661.1  acetylcholine receptor subunit epsilon isoform X2

    2. XM_017597171.3 → XP_017452660.1  acetylcholine receptor subunit epsilon isoform X1

    3. XM_039085740.2 → XP_038941668.1  acetylcholine receptor subunit epsilon isoform X3

      UniProtKB/TrEMBL
      A6HG68, G3V6H4
      Conserved Domains (2) summary
      cd19030
      Location:49 → 239
      LGIC_ECD_nAChR_E; extracellular domain of nicotinic acetylcholine receptor subunit epsilon (CHRNE)
      pfam02932
      Location:247 → 475
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    4. XM_017597173.3 → XP_017452662.1  acetylcholine receptor subunit epsilon isoform X3

      UniProtKB/TrEMBL
      A6HG68, G3V6H4
      Conserved Domains (2) summary
      cd19030
      Location:49 → 239
      LGIC_ECD_nAChR_E; extracellular domain of nicotinic acetylcholine receptor subunit epsilon (CHRNE)
      pfam02932
      Location:247 → 475
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    5. XM_017597174.3 → XP_017452663.1  acetylcholine receptor subunit epsilon isoform X4

      Conserved Domains (3) summary
      TIGR00860
      Location:15 → 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

    6. XM_063268811.1 → XP_063124881.1  acetylcholine receptor subunit epsilon isoform X5

    7. XM_063268812.1 → XP_063124882.1  acetylcholine receptor subunit epsilon isoform X6

    RNA

    1. XR_010055162.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P09660.2 GenPept UniProtKB/Swiss-Prot:P09660

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