InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-20043

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