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

Gene ID: 1145, updated on 9-Jul-2017
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]
Orthologs
Location:
17p13.2
Exon count:
13
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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
 
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 
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
 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
neuromuscular synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
 
response to nicotine IBA
Inferred from Biological aspect of Ancestor
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
synaptic transmission, cholinergic TAS
Traceable Author Statement
more info
PubMed 
transport TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
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 TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
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 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p7 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

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 Alternate CHM1_1.1

    Range
    4810338..4815646 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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