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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000080 Homo sapiens cholinergic receptor, nicotinic, epsilon (muscle) (CHRNE), mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Gene Symbol CHRNE
Entrez Gene ID 1145
Full Name cholinergic receptor, nicotinic, epsilon (muscle)
Synonyms ACHRE, CMS1D, CMS1E, CMS2A, FCCMS, SCCMS
General protein information
Preferred Names
acetylcholine receptor subunit epsilon
Names
acetylcholine receptor subunit epsilon
AchR epsilon subunit
acetylcholine receptor, nicotinic, epsilon (muscle)
cholinergic receptor, nicotinic, epsilon polypeptide
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

17

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, Sep 2009].
Disorder

MIM: 100725

Myasthenic syndrome, slow-channel congenital, 601462 (3);

mRNA Protein Product Sequence Price Select
NM_000080, 294862246 NP_000071, 4557463 acetylcholine receptor subunit epsilon precursor ORF Sequence $550.00
KEGG
hsa04080Neuroactive ligand-receptor interaction
Pathway Interaction Database
erbb2erbb3pathwayErbB2/ErbB3 signaling events
Reactome
REACT_15370Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell
REACT_13477Transmission across Chemical Synapses
REACT_15461Acetylcholine Binding And Downstream Events
REACT_13685Neuronal System
REACT_22149Postsynaptic nicotinic acetylcholine receptors
REACT_22126Activation of Nicotinic Acetylcholine Receptors
REACT_22336Presynaptic nicotinic acetylcholine receptors
REACT_22223Highly sodium permeable acetylcholine nicotinic receptors
Homo sapiens (human)CHRNENP_000071.1
Pan troglodytes (chimpanzee)CHRNEXP_523556.4
Macaca mulatta (Rhesus monkey)CHRNEXP_001097094.1
Canis lupus familiaris (dog)CHRNEXP_536608.3
Bos taurus (cattle)CHRNENP_776697.1
Mus musculus (house mouse)ChrneNP_033733.1
Rattus norvegicus (Norway rat)ChrneNP_058890.1
Xenopus (Silurana) tropicalis (western clawed frog)chrneXP_002941867.2
Process
IDNameEvidence
GO:0006810transportTAS
GO:0006812cation transportIEA
GO:0006812cation transportTAS
GO:0006936muscle contractionTAS
GO:0007165signal transductionTAS
GO:0007268synaptic transmissionTAS
GO:0007271synaptic transmission, cholinergicTAS
GO:0034220ion transmembrane transportIEA
GO:0042391regulation of membrane potentialIEA
Component
IDNameEvidence
GO:0005886plasma membraneTAS
GO:0005887integral component of plasma membraneTAS
GO:0005892acetylcholine-gated channel complexTAS
GO:0030054cell junctionIEA
GO:0045211postsynaptic membraneIEA
Function
IDNameEvidence
GO:0004889acetylcholine-activated cation-selective channel activityIEA
GO:0008324cation transmembrane transporter activityTAS
GO:0015464acetylcholine receptor activityTAS
GeneCards CHRNE
PDB 2DF9
UniProt Q04844
Vega OTTHUMG00000090778
MIM 100725
Ensembl ENSG00000108556
HGNC 1966
HPRD 00008

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the CHRNE gene?

The CHRNE gene provides instructions for making the epsilon (ε) component (subunit) of the acetylcholine receptor (AChR) protein. The AChR protein is found in the membrane of skeletal muscle cells and plays a critical role in the neuromuscular junction, which is the area where signaling between nerve and muscle cells occurs. Signaling between nerve and muscle cells is necessary for movement. The AChR protein consists of five subunits, each of which is produced from a different gene. The subunits are assembled into the AChR protein in the endoplasmic reticulum, a cell structure involved in protein processing and transport, before being transported to the cell membrane. There are two major forms of the AChR protein, a fetal type that is present before birth and an adult type. The ε subunit is found only in the adult AChR protein. At about the 33rd week of pregnancy, the ε subunit replaces the gamma (γ) subunit (found only in fetal AChR) to form adult AChR protein.

Interactant

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