Acetylcholine receptor subunit epsilon
Also known as: ACHRE, CHRNE
Function
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
Classification
- Family (Pfam)
- PF02931 Neur_chan_LBD, PF02932 Neur_chan_memb
- InterPro
- Neur_chan_lig-bd, Neur_chan_lig-bd_sf, Neur_channel, Neuro-gated_channel_TM_sf, Neuro_actylchol_rec, Neurotrans-gated_channel_TM, Neurotransmitter_ion_chnl_CS, Nicotinic_acetylcholine_rcpt
- Functional cluster
- Archaeal Ribosomal & Replication Proteins
Experimental structures · PDB · 13
- 9DMG EM 2.05A
- 9DMH EM 2.06A
- 9DMJ EM 2.19A
- 9DMK EM 2.46A
- 9DML EM 2.24A
- 9DMQ EM 2.06A
- 9DMS EM 1.92A
- 9DMT EM 2.18A
- 9DMV EM 2.13A
- 9GU0 EM 2.96A
- 9GU1 EM 2.48A
- 9GU2 EM 2.73A
- … and 1 more
A predicted model is available from AlphaFold.
Gene Ontology · 18
- GO:0005892 acetylcholine-gated channel complex
- GO:0031594 neuromuscular junction
- GO:0043005 neuron projection
- GO:0005886 plasma membrane
- GO:0045211 postsynaptic membrane
- GO:0045202 synapse
- GO:0015464 acetylcholine receptor activity
- GO:0022848 acetylcholine-gated monoatomic cation-selective channel activity
- GO:0008324 monoatomic cation transmembrane transporter activity
- GO:1904315 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential
- GO:0095500 acetylcholine receptor signaling pathway
- GO:0007268 chemical synaptic transmission
- GO:0051899 membrane depolarization
- GO:0034220 monoatomic ion transmembrane transport
- GO:0006936 muscle contraction
- GO:0007165 signal transduction
- GO:0003009 skeletal muscle contraction
- GO:0007271 synaptic transmission, cholinergic
Disease associations
- myasthenia gravis MONDO:0009688
- congenital myasthenic syndrome 4A MONDO:0011600
- congenital myasthenic syndrome 4C MONDO:0012157
- congenital myasthenic syndrome 4B MONDO:0014586
Drugs targeting this protein · 14
- DECAMETHONIUM BROMIDE partial agonist
- ATRACURIUM BESYLATE antagonist
- RAPACURONIUM BROMIDE antagonist
- VECURONIUM BROMIDE antagonist
- CISATRACURIUM BESYLATE antagonist
- ROCURONIUM BROMIDE antagonist
- PIPECURONIUM BROMIDE antagonist
- PANCURONIUM BROMIDE antagonist
- GALLAMINE TRIETHIODIDE antagonist
- DOXACURIUM CHLORIDE antagonist
- METOCURINE IODIDE antagonist
- TUBOCURARINE CHLORIDE antagonist
- SUCCINYLCHOLINE CHLORIDE agonist
- MIVACURIUM CHLORIDE antagonist
Related proteins · sequence + function similarity
- Acetylcholine receptor subunit epsilon 0.99
- Acetylcholine receptor subunit epsilon 0.98
- Acetylcholine receptor subunit epsilon 0.98
- Acetylcholine receptor subunit gamma 0.88
- Acetylcholine receptor subunit beta 0.88
- Acetylcholine receptor subunit beta 0.88
- Acetylcholine receptor subunit beta 0.88
- Acetylcholine receptor subunit beta 0.87
- Acetylcholine receptor subunit gamma 0.87
- Acetylcholine receptor subunit gamma 0.87
- Acetylcholine receptor subunit gamma 0.86
- Acetylcholine receptor subunit gamma 0.85
Co-cited proteins · studied together in the literature
- Acetylcholine receptor subunit gamma 1 shared papers
- Acetylcholine receptor subunit beta 3 shared papers
- Acetylcholine receptor subunit delta 3 shared papers
- Acetylcholine receptor subunit alpha 3 shared papers
- Alpha-conotoxin ImII 1 shared papers
- Alpha-conotoxin ImI 1 shared papers
- Neuronal acetylcholine receptor subunit beta-2 1 shared papers
- Neuronal acetylcholine receptor subunit alpha-3 1 shared papers
- Neuronal acetylcholine receptor subunit beta-4 1 shared papers
- Neuronal acetylcholine receptor subunit alpha-3 1 shared papers
- Neuronal acetylcholine receptor subunit alpha-7 1 shared papers
- Neuronal acetylcholine receptor subunit beta-2 1 shared papers
Literature · 11 cited papers
- Mutations causing slow-channel myasthenia reveal that a valine ring in the channel pore of muscle AChR is optimized for stabilizing channel gating. Hum. Mutat. · 2016
- Highly fatal fast-channel syndrome caused by AChR epsilon subunit mutation at the agonist binding site. Neurology · 2012
- Alpha-conotoxins ImI and ImII target distinct regions of the human alpha7 nicotinic acetylcholine receptor and distinguish human nicotinic receptor subtypes. Biochemistry · 2004
- Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes. Neurology · 2002
- Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome. J. Gen. Physiol. · 2000
- Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations. Hum. Mol. Genet. · 1997
- New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum. Mol. Genet. · 1996
- Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit. Neuron · 1996
- Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits. Eur. J. Biochem. · 1993
- A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome. Neurology · 1995
- Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit. Proc. Natl. Acad. Sci. U.S.A. · 1995
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