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

    Gene ID: 1145, updated on 9-Dec-2024

    Summary

    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; AllianceGenome:HGNC:1966
    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
    MGI; FIM1; FIMG; ACHRE; CMS1D; CMS1E; CMS2A; CMS4A; CMS4B; CMS4C; FCCMS; FIMG1; SCCMS; CMS1A1
    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
    NEW
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    Genomic context

    See CHRNE in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4897771..4908677, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4788020..4798918, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4801066..4806393, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene misshapen like kinase 1 Neighboring gene Sharpr-MPRA regulatory region 481 Neighboring gene ATPase H+ transporting V0 subunit c pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11550 Neighboring gene RNA, 7SL, cytoplasmic 784, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11551 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4805105-4805746 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4805747-4806388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11552 Neighboring gene Sharpr-MPRA regulatory region 10924 Neighboring gene chromosome 17 open reading frame 107 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4811144-4811970 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4811971-4812796 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4812797-4813623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4841097-4841622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4841623-4842148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:4842149-4842674 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8051 Neighboring gene glycoprotein Ib platelet subunit alpha Neighboring gene solute carrier family 25 member 11

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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 transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in synaptic transmission, cholinergic TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of acetylcholine-gated channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in neuromuscular junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in neuromuscular junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    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
    myasthenia gravis, familial infantile, 1

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_008029.2 RefSeqGene

      Range
      4978..10305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1254

    mRNA and Protein(s)

    1. NM_000080.4NP_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
      D3DTK6, Q04844
      Related
      ENSP00000497829.1, ENST00000649488.2
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      4897771..4908677 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017024115.2XP_016879604.1  acetylcholine receptor subunit epsilon isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      4788020..4798918 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314933.1XP_054170908.1  acetylcholine receptor subunit epsilon isoform X1