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    CHRNE cholinergic receptor nicotinic epsilon subunit [ Homo sapiens (human) ]

    Gene ID: 1145, updated on 17-Apr-2018
    Official Symbol
    CHRNEprovided by HGNC
    Official Full Name
    cholinergic receptor nicotinic epsilon subunitprovided by HGNC
    Primary source
    HGNC:HGNC:1966
    See related
    Ensembl:ENSG00000108556 MIM:100725; Vega:OTTHUMG00000090778
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACHRE; CMS1D; CMS1E; CMS2A; CMS4A; CMS4B; CMS4C; FCCMS; SCCMS
    Summary
    Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]
    Expression
    Broad expression in heart (RPKM 15.8), skin (RPKM 3.3) and 20 other tissues See more
    Orthologs
    Location:
    17p13.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (4897769..4905019, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4801064..4806369, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene misshapen like kinase 1 Neighboring gene ATPase H+ transporting V0 subunit c pseudogene 1 Neighboring gene RNA, 7SL, cytoplasmic 784, pseudogene Neighboring gene chromosome 17 open reading frame 107 Neighboring gene glycoprotein Ib platelet alpha subunit Neighboring gene solute carrier family 25 member 11 Neighboring gene ring finger protein 167

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to acetylcholine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    CONTRIBUTES_TO acetylcholine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    CONTRIBUTES_TO acetylcholine receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acetylcholine receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    contributes_to acetylcholine-gated cation-selective channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cation transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    CONTRIBUTES_TO extracellular ligand-gated ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    ligand-gated ion channel activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    nervous system process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    neuromuscular synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to nicotine IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    synaptic transmission, cholinergic IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    synaptic transmission, cholinergic TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    acetylcholine-gated channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acetylcholine-gated channel complex TAS
    Traceable Author Statement
    more info
    PubMed 
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    acetylcholine receptor subunit epsilon
    Names
    AchR epsilon subunit
    acetylcholine receptor, nicotinic, epsilon (muscle)
    cholinergic receptor, nicotinic epsilon
    cholinergic receptor, nicotinic, epsilon (muscle)
    cholinergic receptor, nicotinic, epsilon polypeptide

    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.

    Genomic

    1. NG_008029.2 RefSeqGene

      Range
      5002..10307
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000080.3NP_000071.1  acetylcholine receptor subunit epsilon precursor

      See identical proteins and their annotated locations for NP_000071.1

      Status: REVIEWED

      Source sequence(s)
      AC233723, X66403
      Consensus CDS
      CCDS11058.1
      UniProtKB/Swiss-Prot
      Q04844
      Related
      ENSP00000293780.4, OTTHUMP00000216307, ENST00000293780.4, OTTHUMT00000207560
      Conserved Domains (3) summary
      TIGR00860
      Location:21475
      LIC; Cation transporter family protein
      pfam02931
      Location:24240
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:247474
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      4897769..4905019 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024115.1XP_016879604.1  acetylcholine receptor subunit epsilon isoform X1

    RNA

    1. XR_001752421.1 RNA Sequence

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