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

Gene Symbol	CHRNE
Entrez Gene ID	1145
Full Name	cholinergic receptor, nicotinic, epsilon
Synonyms	ACHRE, CMS1D, CMS1E, CMS2A, FCCMS, SCCMS
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:17 Map Location:17p13.2
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].
Disorder	MIM: 100725 Myasthenic syndrome, slow-channel congenital, 601462 (3);

mRNA	NM_000080, 294862246
Protein	NP_000071, 4557463
Product	acetylcholine receptor subunit epsilon precursor
RefSeq Status	REVIEWED

KEGG

hsa04080

Neuroactive ligand-receptor interaction

Pathway Interaction Database

erbb2erbb3pathway

ErbB2/ErbB3 signaling events

Reactome

REACT_22336	Presynaptic nicotinic acetylcholine receptors
REACT_13477	Transmission across Chemical Synapses
REACT_22126	Activation of Nicotinic Acetylcholine Receptors
REACT_15461	Acetylcholine Binding And Downstream Events
REACT_22149	Postsynaptic nicotinic acetylcholine receptors
REACT_13685	Synaptic Transmission
REACT_22223	Highly sodium permeable acetylcholine nicotinic receptors
REACT_15370	Neuroransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell

Homo sapiens (human)	CHRNE	NP_000071.1
Pan troglodytes (chimpanzee)	CHRNE	XP_523556.2
Canis lupus familiaris (dog)	CHRNE	XP_536608.2
Bos taurus (cattle)	CHRNE	NP_776697.1
Mus musculus (house mouse)	Chrne	NP_033733.1
Rattus norvegicus (Norway rat)	Chrne	NP_058890.1

Process

ID	Name	Evidence
GO:0006810	transport	TAS
GO:0006812	cation transport	TAS
GO:0006936	muscle contraction	TAS
GO:0007165	signal transduction	TAS
GO:0007268	synaptic transmission	TAS
GO:0007271	synaptic transmission, cholinergic	TAS
GO:0042391	regulation of membrane potential	IEA

Component

ID	Name	Evidence
GO:0005886	plasma membrane	EXP
GO:0005887	integral to plasma membrane	TAS
GO:0005892	nicotinic acetylcholine-gated receptor-channel complex	IEA
GO:0030054	cell junction	IEA
GO:0045202	synapse	IEA
GO:0045211	postsynaptic membrane	IEA

Function

ID	Name	Evidence
GO:0004872	receptor activity	IEA
GO:0004889	nicotinic acetylcholine-activated cation-selective channel activity	IEA
GO:0005216	ion channel activity	IEA
GO:0005230	extracellular ligand-gated ion channel activity	IEA
GO:0008324	cation transmembrane transporter activity	TAS
GO:0015464	acetylcholine receptor activity	TAS

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RefSeq Accession	Definition	Sequence	Price	Select
NM_000080	Homo sapiens cholinergic receptor, nicotinic, epsilon (CHRNE), mRNA.	Full Length	$713.40
NM_000080		ORF Sequence	$429.78