CHRNA1 explained

Neuronal acetylcholine receptor subunit alpha-1, also known as nAChRα1, is a protein that in humans is encoded by the CHRNA1 gene.^[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 acetylcholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified.^[1]

Interactions

Cholinergic receptor, nicotinic, alpha 1 has been shown to interact with CHRND.^{[2] [3]}

See also

• Nicotinic acetylcholine receptor

Further reading

• Bracci L, Lozzi L, Rustici M, Neri P . Binding of HIV-1 gp120 to the nicotinic receptor . FEBS Letters . 311 . 2 . 115–8 . October 1992 . 1397297 . 10.1016/0014-5793(92)81380-5 . 22571925 . free . 1992FEBSL.311..115B .
• Beeson D, Morris A, Vincent A, Newsom-Davis J . The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon . The EMBO Journal . 9 . 7 . 2101–6 . July 1990 . 1694127 . 551929 . 10.1002/j.1460-2075.1990.tb07378.x .
• Yu XM, Hall ZW . Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor . Nature . 352 . 6330 . 64–7 . July 1991 . 1712080 . 10.1038/352064a0 . 1991Natur.352...64Y . 4245374 .
• Beeson D, Jeremiah S, West LF, Povey S, Newsom-Davis J . 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 . Annals of Human Genetics . 54 . 3 . 199–208 . July 1990 . 2221824 . 10.1111/j.1469-1809.1990.tb00378.x . 151624 .
• Hohlfeld R, Toyka KV, Miner LL, Walgrave SL, Conti-Tronconi BM . Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravis . The Journal of Clinical Investigation . 81 . 3 . 657–60 . March 1988 . 2449458 . 442511 . 10.1172/JCI113369 .
• Schoepfer R, Luther M, Lindstrom J . The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA . FEBS Letters . 226 . 2 . 235–40 . January 1988 . 3338555 . 10.1016/0014-5793(88)81430-3 . 1988FEBSL.226..235S . 32444215 .
• Oosterhuis HJ, Newsom-Davis J, Wokke JH, Molenaar PC, Weerden TV, Oen BS, Jennekens FG, Veldman H, Vincent A, Wray DW . The slow channel syndrome. Two new cases . Brain . 110 (Pt 4) . 4 . 1061–79 . August 1987 . 3651795 . 10.1093/brain/110.4.1061 .
• Noda M, Furutani Y, Takahashi H, Toyosato M, Tanabe T, Shimizu S, Kikyotani S, Kayano T, Hirose T, Inayama S . Cloning and sequence analysis of calf cDNA and human genomic DNA encoding alpha-subunit precursor of muscle acetylcholine receptor . Nature . 305 . 5937 . 818–23 . 1983 . 6688857 . 10.1038/305818a0 . 1983Natur.305..818N . 4356354 .
• Vincent A, Cull-Candy SG, Newsom-Davis J, Trautmann A, Molenaar PC, Polak RL . Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases . Muscle & Nerve . 4 . 4 . 306–18 . 1981 . 7254233 . 10.1002/mus.880040407 . 31016642 .
• Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG . Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity . Neuron . 15 . 1 . 229–39 . July 1995 . 7619526 . 10.1016/0896-6273(95)90080-2 . 1959504 . free .
• Kreienkamp HJ, Maeda RK, Sine SM, Taylor P . Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor . Neuron . 14 . 3 . 635–44 . March 1995 . 7695910 . 10.1016/0896-6273(95)90320-8 . free .
• Gattenlöhner S, Brabletz T, Schultz A, Marx A, Müller-Hermelink HK, Kirchner T . 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 . 1995 . 7725386 .
• Chauplannaz G, Bady B . [Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests] . Revue Neurologique . 150 . 2 . 142–8 . 1995 . 7863154 .
• Lobos EA . 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 . September 1993 . 7902325 . 10.1006/geno.1993.1384 .
• Green WN, Claudio T . Acetylcholine receptor assembly: subunit folding and oligomerization occur sequentially . Cell . 74 . 1 . 57–69 . July 1993 . 8334706 . 10.1016/0092-8674(93)90294-Z . 41385871 .
• Talib S, Okarma TB, Lebkowski JS . Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues . Nucleic Acids Research . 21 . 2 . 233–7 . January 1993 . 8441631 . 309097 . 10.1093/nar/21.2.233 .
• Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM . New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome . Human Molecular Genetics . 5 . 9 . 1217–27 . September 1996 . 8872460 . 10.1093/hmg/5.9.1217 . free .
• Wang ZZ, Hardy SF, Hall ZW . Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo . The Journal of Biological Chemistry . 271 . 44 . 27575–84 . November 1996 . 8910344 . 10.1074/jbc.271.44.27575 . free .
• Croxen R, Newland C, Beeson D, Oosterhuis H, Chauplannaz G, Vincent A, Newsom-Davis J . Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome . Human Molecular Genetics . 6 . 5 . 767–74 . May 1997 . 9158151 . 10.1093/hmg/6.5.767 . free .
• Milone M, Wang HL, Ohno K, Fukudome T, Pruitt JN, Bren N, Sine SM, Engel AG . 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 . The Journal of Neuroscience . 17 . 15 . 5651–65 . August 1997 . 9221765 . 6573201 . 10.1523/JNEUROSCI.17-15-05651.1997 .

Notes and References

1. Web site: Entrez Gene: CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle).
2. Kreienkamp HJ, Maeda RK, Sine SM, Taylor P . Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor . Neuron . 14 . 3 . 635–44 . March 1995 . 7695910 . 10.1016/0896-6273(95)90320-8 . free .
3. Wang ZZ, Hardy SF, Hall ZW . Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo . The Journal of Biological Chemistry . 271 . 44 . 27575–84 . November 1996 . 8910344 . 10.1074/jbc.271.44.27575 . free .