Homo sapiens Gene: CHRNE
Summary
InnateDB Gene IDBG-20041.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CHRNE
Gene Name cholinergic receptor, nicotinic, epsilon (muscle)
Synonyms ACHRE; CMS1D; CMS1E; CMS2A; FCCMS; SCCMS;
Species Homo sapiens
Ensembl Gene ENSG00000108556
Encoded Proteins
cholinergic receptor, nicotinic, epsilon
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:4897774-4903074
Strand Reverse strand
Band p13.2
Transcripts
ENST00000293780 ENSP00000293780
ENST00000575637
ENST00000572438
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004889 acetylcholine-activated cation-selective channel activity
GO:0005230 extracellular ligand-gated ion channel activity
GO:0008324 cation transmembrane transporter activity
GO:0015464 acetylcholine receptor activity
Biological Process
GO:0006810 transport
GO:0006811 ion transport
GO:0006812 cation transport
GO:0006936 muscle contraction
GO:0007165 signal transduction
GO:0007268 synaptic transmission
GO:0007271 synaptic transmission, cholinergic
GO:0034220 ion transmembrane transport
GO:0042391 regulation of membrane potential
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005892 acetylcholine-gated channel complex
GO:0016020 membrane
GO:0030054 cell junction
GO:0045211 postsynaptic membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Neuronal System pathway
Postsynaptic nicotinic acetylcholine receptors pathway
Highly sodium permeable acetylcholine nicotinic receptors pathway
Activation of Nicotinic Acetylcholine Receptors pathway
Presynaptic nicotinic acetylcholine receptors pathway
Transmission across Chemical Synapses pathway
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway
Acetylcholine Binding And Downstream Events pathway
KEGG
Neuroactive ligand-receptor interaction pathway
INOH
PID BIOCARTA
PID NCI
ErbB2/ErbB3 signaling events
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.654535
RefSeq NM_000080
HUGO
OMIM
CCDS CCDS11058
HPRD 00008
IMGT
EMBL
GenPept
RNA Seq Atlas