Neuronal acetylcholine receptor subunit alpha-1, also known as nAChRα1, is a protein that in humans is encoded by the CHRNA1gene.[1] The protein encoded by this gene is a subunit of certain nicotinic acetylcholine receptors (nAchR).
The muscle acetylcholine receptor consists of 5 subunits of 4 different types: 2 alpha isoforms and 1 each of beta, gamma, and delta subunits.2 This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified.[1]
↑Kreienkamp, H J; Maeda R K; Sine S M; Taylor P (March 1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. UNITED STATES. 14 (3): 635–44. doi:10.1016/0896-6273(95)90320-8. ISSN0896-6273. PMID7695910.
↑Wang, Z Z; Hardy S F; Hall Z W (November 1996). "Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo". J. Biol. Chem. UNITED STATES. 271 (44): 27575–84. doi:10.1074/jbc.271.44.27575. ISSN0021-9258. PMID8910344.
Further reading
Bracci L, Lozzi L, Rustici M, Neri P (1992). "Binding of HIV-1 gp120 to the nicotinic receptor". FEBS Lett. 311 (2): 115–8. doi:10.1016/0014-5793(92)81380-5. PMID1397297.
Beeson D, Jeremiah S, West LF, et al. (1990). "Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17". Ann. Hum. Genet. 54 (Pt 3): 199–208. doi:10.1111/j.1469-1809.1990.tb00378.x. PMID2221824.
Schoepfer R, Luther M, Lindstrom J (1988). "The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA". FEBS Lett. 226 (2): 235–40. doi:10.1016/0014-5793(88)81430-3. PMID3338555.
Oosterhuis HJ, Newsom-Davis J, Wokke JH, et al. (1987). "The slow channel syndrome. Two new cases". Brain. 110 (4): 1061–79. doi:10.1093/brain/110.4.1061. PMID3651795.
Noda M, Furutani Y, Takahashi H, et al. (1983). "Cloning and sequence analysis of calf cDNA and human genomic DNA encoding alpha-subunit precursor of muscle acetylcholine receptor". Nature. 305 (5937): 818–23. Bibcode:1983Natur.305..818N. doi:10.1038/305818a0. PMID6688857.
Vincent A, Cull-Candy SG, Newsom-Davis J, et al. (1981). "Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases". Muscle Nerve. 4 (4): 306–18. doi:10.1002/mus.880040407. PMID7254233.
Sine SM, Ohno K, Bouzat C, et al. (1995). "Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity". Neuron. 15 (1): 229–39. doi:10.1016/0896-6273(95)90080-2. PMID7619526.
Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–44. doi:10.1016/0896-6273(95)90320-8. PMID7695910.
Gattenlöhner S, Brabletz T, Schultz A, et al. (1995). "Cloning of a cDNA coding for the acetylcholine receptor alpha-subunit from a thymoma associated with myasthenia [correction of myastenia] gravis". Thymus. 23 (2): 103–13. PMID7725386.
Chauplannaz G, Bady B (1995). "[Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests]". Rev. Neurol. (Paris). 150 (2): 142–8. PMID7863154.
Lobos EA (1993). "Five subunit genes of the human muscle nicotinic acetylcholine receptor are mapped to two linkage groups on chromosomes 2 and 17". Genomics. 17 (3): 642–50. doi:10.1006/geno.1993.1384. PMID7902325.
Green WN, Claudio T (1993). "Acetylcholine receptor assembly: subunit folding and oligomerization occur sequentially". Cell. 74 (1): 57–69. doi:10.1016/0092-8674(93)90294-Z. PMID8334706.
Engel AG, Ohno K, Milone M, et al. (1997). "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome". Hum. Mol. Genet. 5 (9): 1217–27. doi:10.1093/hmg/5.9.1217. PMID8872460.
Wang ZZ, Hardy SF, Hall ZW (1996). "Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo". J. Biol. Chem. 271 (44): 27575–84. doi:10.1074/jbc.271.44.27575. PMID8910344.
Croxen R, Newland C, Beeson D, et al. (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. 6 (5): 767–74. doi:10.1093/hmg/6.5.767. PMID9158151.
Milone M, Wang HL, Ohno K, et al. (1997). "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. 17 (15): 5651–65. PMID9221765.