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

Gene ID: 1145, updated on 12-Apr-2014
Official Symbol
CHRNEprovided by HGNC
Official Full Name
cholinergic receptor, nicotinic, epsilon (muscle)provided by HGNC
Primary source
HGNC:1966
See related
Ensembl:ENSG00000108556; HPRD:00008; 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; 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]
Location :
17p13.2
Sequence :
Chromosome: 17; NC_000017.11 (4897769..4903074, complement)
See CHRNE in Epigenomics, MapViewer

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene phospholipase D2 Neighboring gene misshapen-like kinase 1 Neighboring gene ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c pseudogene 1 Neighboring gene chromosome 17 open reading frame 107 Neighboring gene solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 Neighboring gene glycoprotein Ib (platelet), alpha polypeptide Neighboring gene ring finger protein 167

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
acetylcholine receptor activity TAS
Traceable Author Statement
more info
PubMed 
acetylcholine-activated cation-selective channel activity IEA
Inferred from Electronic Annotation
more info
 
cation transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cation transport TAS
Traceable Author Statement
more info
PubMed 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
regulation of membrane potential IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
synaptic transmission TAS
Traceable Author Statement
more info
 
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
acetylcholine receptor subunit epsilon
AchR epsilon subunit
acetylcholine 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 proteins identical to NP_000071.1

    Status: REVIEWED

    Source sequence(s)
    AC233723, X66403
    Consensus CDS
    CCDS11058.1
    UniProtKB/Swiss-Prot
    Q04844
    Related
    ENSP00000293780, OTTHUMP00000216307, ENST00000293780, OTTHUMT00000207560
    Conserved Domains (3) summary
    TIGR00860
    Location:21475
    Blast Score: 527
    LIC; Cation transporter family protein
    pfam02931
    Location:24240
    Blast Score: 677
    Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    pfam02932
    Location:247474
    Blast Score: 549
    Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38 Primary Assembly

    Range
    4897769..4903074, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000149.1 Alternate HuRef

    Range
    4689154..4694504, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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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