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Target not currently curated in GtoImmuPdb
Target id: 476
Nomenclature: nicotinic acetylcholine receptor δ subunit
Gene and Protein Information  |
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| Species | TM | AA | Chromosomal Location | Gene Symbol | Gene Name | Reference |
| Human | 4 | 517 | 2q37.1 | CHRND | cholinergic receptor nicotinic delta subunit | 7 |
| Mouse | 4 | 520 | 1 44.07 cM | 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 |
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| Alphafold | Q07001 (Hs), P02716 (Mm), P25110 (Rn) |
| CATH/Gene3D | 2.70.170.10 |
| ChEMBL Target | CHEMBL3011 (Hs), CHEMBL3137264 (Mm), CHEMBL3038460 (Mm), CHEMBL3885509 (Rn), CHEMBL4523658 (Rn) |
| Ensembl Gene | ENSG00000135902 (Hs), ENSMUSG00000026251 (Mm), ENSRNOG00000019527 (Rn) |
| Entrez Gene | 1144 (Hs), 11447 (Mm), 54240 (Rn) |
| Human Protein Atlas | ENSG00000135902 (Hs) |
| KEGG Gene | hsa:1144 (Hs), mmu:11447 (Mm), rno:54240 (Rn) |
| OMIM | 100720 (Hs) |
| Orphanet | ORPHA119422 (Hs) |
| Pharos | Q07001 (Hs) |
| RefSeq Nucleotide | NM_000751 (Hs), NM_021600 (Mm), NM_019298 (Rn) |
| RefSeq Protein | NP_000742 (Hs), NP_067611 (Mm), NP_062171 (Rn) |
| UniProtKB | Q07001 (Hs), P02716 (Mm), P25110 (Rn) |
| Wikipedia | CHRND (Hs) |
| 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 | |||||||||||||||||||||||||||||||||||||||||||||||||
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| Tissue Distribution Comments | |
| The δ subunit mRNA us expressed in vertebrate skeletal muscle. |
| Clinically-Relevant Mutations and Pathophysiology
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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 USA, 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]
