nicotinic acetylcholine receptor δ subunit | Nicotinic acetylcholine receptors | IUPHAR/BPS Guide to PHARMACOLOGY

nicotinic acetylcholine receptor δ subunit

Target id: 476

Nomenclature: nicotinic acetylcholine receptor δ subunit

Family: Nicotinic acetylcholine receptors

Annotation status:  image of a green circle Annotated and expert reviewed. Please contact us if you can help with updates.  » Email us

   GtoImmuPdb view: OFF :     Currently no data for nicotinic acetylcholine receptor δ subunit in GtoImmuPdb

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 4 517 2q33-q34 CHRND cholinergic receptor nicotinic delta subunit 7
Mouse 4 520 1 D Chrnd cholinergic receptor, nicotinic, delta polypeptide 6
Rat 4 517 9q35 Chrnd cholinergic receptor nicotinic delta subunit 13
Previous and Unofficial Names
ACHRD | Achr-4 | Acrd | cholinergic receptor, nicotinic, delta (muscle) | cholinergic receptor, nicotinic delta | cholinergic receptor
Database Links
CATH/Gene3D
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Orphanet
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Natural/Endogenous Ligands
acetylcholine

Download all structure-activity data for this target as a CSV file

Antagonists
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Affinity Units Reference
PhTX-11 Hs Antagonist 6.2 – 6.3 pIC50 12
pIC50 6.2 – 6.3 (IC50 5.8x10-7 – 4.6x10-7 M) [12]
Tissue Distribution Comments
The δ subunit mRNA us expressed in vertebrate skeletal muscle.
Clinically-Relevant Mutations and Pathophysiology
Disease:  Multiple pterygium syndrome, lethal type; LMPS
Description: A fetal akinesia deformation sequence (FADS) disorder
Synonyms: Lethal multiple pterygium syndrome [Orphanet: ORPHA33108]
OMIM: 253290
Orphanet: ORPHA33108
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Missense Human F74L This mutation was seen in compound heterozygosity with R464X 8
Nonsense Human W57X 8
Nonsense Human R464X 1390C-T This mutation was seen in compound heterozygosity with F74L 8
Disease:  Myasthenic syndrome, congenital, 3A, slow-channel; CMS3A
Synonyms: Congenital myasthenic syndrome [Disease Ontology: DOID:3635] [Orphanet: ORPHA590]
Postsynaptic congenital myasthenic syndromes [Orphanet: ORPHA98913]
Disease Ontology: DOID:3635
OMIM: 616321
Orphanet: ORPHA590, ORPHA98913
References:  2-3
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Missense Human S268F C>T Exon 8. Transmembrane region. 5
Disease:  Myasthenic syndrome, congenital, 3B, fast-channel; CMS3B
Synonyms: Congenital myasthenic syndrome [Orphanet: ORPHA590] [Disease Ontology: DOID:3635]
Postsynaptic congenital myasthenic syndromes [Orphanet: ORPHA98913]
Disease Ontology: DOID:3635
OMIM: 616322
Orphanet: ORPHA590, ORPHA98913
References:  2-3
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Deletion Human 756delAG Exon 7/intron 7 boundary; null allele. 1
Missense Human L42P 10
Missense Human I58K 10
Missense Human E59K 175G-A 1
Missense Human P250Q c.749C>A Exon 7. Extracellular 11
Disease:  Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency; CMS3C
Synonyms: Congenital myasthenic syndrome [Disease Ontology: DOID:3635] [Orphanet: ORPHA590]
Postsynaptic congenital myasthenic syndromes [Orphanet: ORPHA98913]
Disease Ontology: DOID:3635
OMIM: 616323
Orphanet: ORPHA590, ORPHA98913
Comments: 
References:  2-4
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Deletion Human - - 2.2-kb deletion- resulting in the loss of half on exon 8 and all of exon 9. 9
Missense Human E381K c.1141G>A Exon 10. Intracellular 9

References

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1. Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D. (2001) Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. J. Clin. Invest., 108 (1): 125-30. [PMID:11435464]

2. Engel AG, Ohno K, Sine SM. (2003) Congenital myasthenic syndromes: A diverse array of molecular targets. J. Neurocytol., 32 (5-8): 1017-37. [PMID:15034283]

3. Engel AG, Shen XM, Selcen D, Sine SM. (2010) What have we learned from the congenital myasthenic syndromes. J. Mol. Neurosci., 40 (1-2): 143-53. [PMID:19688192]

4. Engel AG, Sine SM. (2005) Current understanding of congenital myasthenic syndromes. Curr Opin Pharmacol, 5 (3): 308-21. [PMID:15907919]

5. Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A et al.. (2002) Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms. Ann. Neurol., 51 (1): 102-12. [PMID:11782989]

6. LaPolla RJ, Mayne KM, Davidson N. (1984) Isolation and characterization of a cDNA clone for the complete protein coding region of the delta subunit of the mouse acetylcholine receptor. Proc. Natl. Acad. Sci. U.S.A., 81 (24): 7970-4. [PMID:6096870]

7. Luther MA, Schoepfer R, Whiting P, Casey B, Blatt Y, Montal MS, Montal M, Linstrom J. (1989) A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671. J. Neurosci., 9 (3): 1082-96. [PMID:2564429]

8. Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N et al.. (2008) Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am. J. Hum. Genet., 82 (2): 464-76. [PMID:18252226]

9. Müller JS, Baumeister SK, Schara U, Cossins J, Krause S, von der Hagen M, Huebner A, Webster R, Beeson D, Lochmüller H et al.. (2006) CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn. Brain, 129 (Pt 10): 2784-93. [PMID:16916845]

10. Shen XM, Fukuda T, Ohno K, Sine SM, Engel AG. (2008) Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating. J. Clin. Invest., 118 (5): 1867-76. [PMID:18398509]

11. Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG. (2002) Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation. Neurology, 59 (12): 1881-8. [PMID:12499478]

12. Strømgaard K, Mellor IR, Andersen K, Neagoe I, Pluteanu F, Usherwood PN, Krogsgaard-Larsen P, Jaroszewski JW. (2002) Solid-phase synthesis and pharmacological evaluation of analogues of PhTX-12-A potent and selective nicotinic acetylcholine receptor antagonist. Bioorg. Med. Chem. Lett., 12 (8): 1159-62. [PMID:11934578]

13. Witzemann V, Stein E, Barg B, Konno T, Koenen M, Kues W, Criado M, Hofmann M, Sakmann B. (1990) Primary structure and functional expression of the alpha-, beta-, gamma-, delta- and epsilon-subunits of the acetylcholine receptor from rat muscle. Eur. J. Biochem., 194 (2): 437-48. [PMID:1702709]

Contributors

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How to cite this page

Cecilia Gotti, Michael. J. Marks, Neil S. Millar, Susan Wonnacott.
Nicotinic acetylcholine receptors: nicotinic acetylcholine receptor δ subunit. Last modified on 19/10/2015. Accessed on 15/11/2018. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=476.