Acetylcholine receptor subunit delta

UniProt Q07001 Organism Homo sapiens Gene ACHRD, CHRND

Also known as: ACHRD, CHRND

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: Cytochrome P450 & Heme Enzymes

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 · 21

Disease associations

lethal multiple pterygium syndrome MONDO:0009668
congenital myasthenic syndrome 3A MONDO:0014583
congenital myasthenic syndrome 3B MONDO:0014584
congenital myasthenic syndrome 3C MONDO:0014585

Drugs targeting this protein · 14

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Acetylcholine receptor subunit alpha 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
Neuronal acetylcholine receptor subunit beta-2 1 shared papers

Literature · 14 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
Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. J. Clin. Invest. · 2008
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am. J. Hum. Genet. · 2008
The consensus coding sequences of human breast and colorectal cancers. Science · 2006
CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. Brain · 2006
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature · 2005
Alpha-conotoxins ImI and ImII target distinct regions of the human alpha7 nicotinic acetylcholine receptor and distinguish human nicotinic receptor subtypes. Biochemistry · 2004
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. · 2004
Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat. Genet. · 2004
Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. Neurology · 2002
Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Ann. Neurol. · 2002
Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. J. Clin. Invest. · 2001
… and 2 more in the literature graph

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