Acetylcholine receptor subunit alpha

UniProt P02708 Organism Homo sapiens Gene ACHRA, CHNRA, CHRNA1

Also known as: ACHRA, CHNRA, CHRNA1

Function

Upon acetylcholine binding, 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: Cytochrome P450 & Heme Enzymes

Experimental structures · PDB · 15

4ZJS X-ray 2.23A
5HBT X-ray 2.61A
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
… and 3 more

A predicted model is available from AlphaFold.

Gene Ontology · 29

Disease associations

lethal multiple pterygium syndrome MONDO:0009668
myasthenia gravis MONDO:0009688
congenital myasthenic syndrome 1A MONDO:0011088
myasthenic syndrome, congenital, 1B, fast-channel MONDO:0012156

Drugs targeting this protein · 14

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Acetylcholine receptor subunit alpha 1 shared papers
Acetylcholine receptor subunit delta 4 shared papers
Acetylcholine receptor subunit beta 3 shared papers
Acetylcholine receptor subunit epsilon 3 shared papers
43 kDa receptor-associated protein of the synapse 1 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

Literature · 21 cited papers

Structural insights into the molecular mechanisms of myasthenia gravis and their therapeutic implications. Elife · 2017
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
Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci. Signal. · 2009
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am. J. Hum. Genet. · 2008
Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown. Ann. Neurol. · 2006
Alpha-conotoxins ImI and ImII target distinct regions of the human alpha7 nicotinic acetylcholine receptor and distinguish human nicotinic receptor subtypes. Biochemistry · 2004
Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. Neurology · 2004
Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. · 2004
Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. J. Clin. Invest. · 2003
Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. Nat. Neurosci. · 1999
Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. J. Neurosci. · 1997
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. Hum. Mol. Genet. · 1997
… and 9 more in the literature graph

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