CHRNA1
Template:Short description Template:Cs1 config An Error has occurred retrieving Wikidata item for infobox 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, delta and epsilon subunits. The gamma sub-unit being only present in embryonic nAChR.[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.[3][4]
See also
References
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- ^ a b Page Module:Citation/CS1/styles.css has no content."Entrez Gene: CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)".
- ^ Page Module:Citation/CS1/styles.css has no content.Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, et al. (August 2006). "Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome". American Journal of Human Genetics. 79 (2): 390–395. doi:10.1086/506256. PMC 1559492. PMID 16826531.
- ^ Page Module:Citation/CS1/styles.css has no content.Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (March 1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–644. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
- ^ Page Module:Citation/CS1/styles.css has no content.Wang ZZ, Hardy SF, Hall ZW (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". The Journal of Biological Chemistry. 271 (44): 27575–27584. doi:10.1074/jbc.271.44.27575. PMID 8910344.
Further reading
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- Page Module:Citation/CS1/styles.css has no content.Bracci L, Lozzi L, Rustici M, Neri P (October 1992). "Binding of HIV-1 gp120 to the nicotinic receptor". FEBS Letters. 311 (2): 115–118. Bibcode:1992FEBSL.311..115B. doi:10.1016/0014-5793(92)81380-5. PMID 1397297. S2CID 22571925.
- Page Module:Citation/CS1/styles.css has no content.Beeson D, Morris A, Vincent A, Newsom-Davis J (July 1990). "The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon". The EMBO Journal. 9 (7): 2101–2106. doi:10.1002/j.1460-2075.1990.tb07378.x. PMC 551929. PMID 1694127.
- Page Module:Citation/CS1/styles.css has no content.Yu XM, Hall ZW (July 1991). "Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor". Nature. 352 (6330): 64–67. Bibcode:1991Natur.352...64Y. doi:10.1038/352064a0. PMID 1712080. S2CID 4245374.
- Page Module:Citation/CS1/styles.css has no content.Beeson D, Jeremiah S, West LF, Povey S, Newsom-Davis J (July 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". Annals of Human Genetics. 54 (3): 199–208. doi:10.1111/j.1469-1809.1990.tb00378.x. PMID 2221824. S2CID 151624.
- Page Module:Citation/CS1/styles.css has no content.Hohlfeld R, Toyka KV, Miner LL, Walgrave SL, Conti-Tronconi BM (March 1988). "Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravis". The Journal of Clinical Investigation. 81 (3): 657–660. doi:10.1172/JCI113369. PMC 442511. PMID 2449458.
- Page Module:Citation/CS1/styles.css has no content.Schoepfer R, Luther M, Lindstrom J (January 1988). "The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA". FEBS Letters. 226 (2): 235–240. Bibcode:1988FEBSL.226..235S. doi:10.1016/0014-5793(88)81430-3. PMID 3338555. S2CID 32444215.
- Page Module:Citation/CS1/styles.css has no content.Oosterhuis HJ, Newsom-Davis J, Wokke JH, Molenaar PC, Weerden TV, Oen BS, et al. (August 1987). "The slow channel syndrome. Two new cases". Brain. 110 ( Pt 4) (4): 1061–1079. doi:10.1093/brain/110.4.1061. PMID 3651795.
- Page Module:Citation/CS1/styles.css has no content.Noda M, Furutani Y, Takahashi H, Toyosato M, Tanabe T, Shimizu S, 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): 818–823. Bibcode:1983Natur.305..818N. doi:10.1038/305818a0. PMID 6688857. S2CID 4356354.
- Page Module:Citation/CS1/styles.css has no content.Vincent A, Cull-Candy SG, Newsom-Davis J, Trautmann A, Molenaar PC, Polak RL (1981). "Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases". Muscle & Nerve. 4 (4): 306–318. doi:10.1002/mus.880040407. PMID 7254233. S2CID 31016642.
- Page Module:Citation/CS1/styles.css has no content.Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, et al. (July 1995). "Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity". Neuron. 15 (1): 229–239. doi:10.1016/0896-6273(95)90080-2. PMID 7619526. S2CID 1959504.
- Page Module:Citation/CS1/styles.css has no content.Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (March 1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–644. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
- Page Module:Citation/CS1/styles.css has no content.Gattenlöhner S, Brabletz T, Schultz A, Marx A, Müller-Hermelink HK, Kirchner T (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): 103–113. PMID 7725386.
- Page Module:Citation/CS1/styles.css has no content.Chauplannaz G, Bady B (1995). "[Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests]". Revue Neurologique. 150 (2): 142–148. PMID 7863154.
- Page Module:Citation/CS1/styles.css has no content.Lobos EA (September 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): 642–650. doi:10.1006/geno.1993.1384. PMID 7902325.
- Page Module:Citation/CS1/styles.css has no content.Green WN, Claudio T (July 1993). "Acetylcholine receptor assembly: subunit folding and oligomerization occur sequentially". Cell. 74 (1): 57–69. doi:10.1016/0092-8674(93)90294-Z. PMID 8334706. S2CID 41385871.
- Page Module:Citation/CS1/styles.css has no content.Talib S, Okarma TB, Lebkowski JS (January 1993). "Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues". Nucleic Acids Research. 21 (2): 233–237. doi:10.1093/nar/21.2.233. PMC 309097. PMID 8441631.
- Page Module:Citation/CS1/styles.css has no content.Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, et al. (September 1996). "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome". Human Molecular Genetics. 5 (9): 1217–1227. doi:10.1093/hmg/5.9.1217. PMID 8872460.
- Page Module:Citation/CS1/styles.css has no content.Wang ZZ, Hardy SF, Hall ZW (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". The Journal of Biological Chemistry. 271 (44): 27575–27584. doi:10.1074/jbc.271.44.27575. PMID 8910344.
- Page Module:Citation/CS1/styles.css has no content.Croxen R, Newland C, Beeson D, Oosterhuis H, Chauplannaz G, Vincent A, et al. (May 1997). "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): 767–774. doi:10.1093/hmg/6.5.767. PMID 9158151.
- Page Module:Citation/CS1/styles.css has no content.Milone M, Wang HL, Ohno K, Fukudome T, Pruitt JN, Bren N, et al. (August 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". The Journal of Neuroscience. 17 (15): 5651–5665. doi:10.1523/JNEUROSCI.17-15-05651.1997. PMC 6573201. PMID 9221765.
External links
- CHRNA1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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