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

Gene ID: 1145, updated on 18-Aug-2020

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
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

Genomic context

See CHRNE in Genome Data Viewer
Location:
17p13.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (4897771..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 subunit alpha Neighboring gene solute carrier family 25 member 11 Neighboring gene ring finger protein 167

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

Homology

Gene Ontology Provided by GOA

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
PubMed 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of membrane potential IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic transmission, cholinergic TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
acetylcholine-gated channel complex TAS
Traceable Author Statement
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
neuromuscular junction IDA
Inferred from Direct Assay
more info
PubMed 
neuromuscular junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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

NCBI Reference Sequences (RefSeq)

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
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    4897771..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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