CHRNA1

{{Short description|Protein-coding gene in humans}}

{{Infobox_gene}}

Neuronal acetylcholine receptor subunit alpha-1, also known as nAChRα1, is a protein that in humans is encoded by the CHRNA1 gene.{{cite web | title = Entrez Gene: CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1134}} 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.

Interactions

Cholinergic receptor, nicotinic, alpha 1 has been shown to interact with CHRND.{{cite journal | vauthors = Kreienkamp HJ, Maeda RK, Sine SM, Taylor P | title = Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor | journal = Neuron | volume = 14 | issue = 3 | pages = 635–44 | date = March 1995 | pmid = 7695910 | doi = 10.1016/0896-6273(95)90320-8 | doi-access = free }}{{cite journal | vauthors = Wang ZZ, Hardy SF, Hall ZW | title = Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo | journal = The Journal of Biological Chemistry | volume = 271 | issue = 44 | pages = 27575–84 | date = November 1996 | pmid = 8910344 | doi = 10.1074/jbc.271.44.27575 | doi-access = free }}

See also

References

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Further reading

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  • {{cite journal | vauthors = Bracci L, Lozzi L, Rustici M, Neri P | title = Binding of HIV-1 gp120 to the nicotinic receptor | journal = FEBS Letters | volume = 311 | issue = 2 | pages = 115–8 | date = October 1992 | pmid = 1397297 | doi = 10.1016/0014-5793(92)81380-5 | s2cid = 22571925 | doi-access = free | bibcode = 1992FEBSL.311..115B }}
  • {{cite journal | vauthors = Beeson D, Morris A, Vincent A, Newsom-Davis J | title = The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon | journal = The EMBO Journal | volume = 9 | issue = 7 | pages = 2101–6 | date = July 1990 | pmid = 1694127 | pmc = 551929 | doi = 10.1002/j.1460-2075.1990.tb07378.x }}
  • {{cite journal | vauthors = Yu XM, Hall ZW | title = Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor | journal = Nature | volume = 352 | issue = 6330 | pages = 64–7 | date = July 1991 | pmid = 1712080 | doi = 10.1038/352064a0 | bibcode = 1991Natur.352...64Y | s2cid = 4245374 }}
  • {{cite journal | vauthors = Beeson D, Jeremiah S, West LF, Povey S, Newsom-Davis J | title = 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 | journal = Annals of Human Genetics | volume = 54 | issue = 3 | pages = 199–208 | date = July 1990 | pmid = 2221824 | doi = 10.1111/j.1469-1809.1990.tb00378.x | s2cid = 151624 }}
  • {{cite journal | vauthors = Hohlfeld R, Toyka KV, Miner LL, Walgrave SL, Conti-Tronconi BM | title = Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravis | journal = The Journal of Clinical Investigation | volume = 81 | issue = 3 | pages = 657–60 | date = March 1988 | pmid = 2449458 | pmc = 442511 | doi = 10.1172/JCI113369 }}
  • {{cite journal | vauthors = Schoepfer R, Luther M, Lindstrom J | title = The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA | journal = FEBS Letters | volume = 226 | issue = 2 | pages = 235–40 | date = January 1988 | pmid = 3338555 | doi = 10.1016/0014-5793(88)81430-3 | bibcode = 1988FEBSL.226..235S | s2cid = 32444215 }}
  • {{cite journal | vauthors = Oosterhuis HJ, Newsom-Davis J, Wokke JH, Molenaar PC, Weerden TV, Oen BS, Jennekens FG, Veldman H, Vincent A, Wray DW | title = The slow channel syndrome. Two new cases | journal = Brain | volume = 110 ( Pt 4) | issue = 4 | pages = 1061–79 | date = August 1987 | pmid = 3651795 | doi = 10.1093/brain/110.4.1061 }}
  • {{cite journal | vauthors = Noda M, Furutani Y, Takahashi H, Toyosato M, Tanabe T, Shimizu S, Kikyotani S, Kayano T, Hirose T, Inayama S | title = Cloning and sequence analysis of calf cDNA and human genomic DNA encoding alpha-subunit precursor of muscle acetylcholine receptor | journal = Nature | volume = 305 | issue = 5937 | pages = 818–23 | year = 1983 | pmid = 6688857 | doi = 10.1038/305818a0 | bibcode = 1983Natur.305..818N | s2cid = 4356354 }}
  • {{cite journal | vauthors = Vincent A, Cull-Candy SG, Newsom-Davis J, Trautmann A, Molenaar PC, Polak RL | title = Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases | journal = Muscle & Nerve | volume = 4 | issue = 4 | pages = 306–18 | year = 1981 | pmid = 7254233 | doi = 10.1002/mus.880040407 | s2cid = 31016642 }}
  • {{cite journal | vauthors = Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG | title = Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity | journal = Neuron | volume = 15 | issue = 1 | pages = 229–39 | date = July 1995 | pmid = 7619526 | doi = 10.1016/0896-6273(95)90080-2 | s2cid = 1959504 | doi-access = free }}
  • {{cite journal | vauthors = Kreienkamp HJ, Maeda RK, Sine SM, Taylor P | title = Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor | journal = Neuron | volume = 14 | issue = 3 | pages = 635–44 | date = March 1995 | pmid = 7695910 | doi = 10.1016/0896-6273(95)90320-8 | doi-access = free }}
  • {{cite journal | vauthors = Gattenlöhner S, Brabletz T, Schultz A, Marx A, Müller-Hermelink HK, Kirchner T | title = Cloning of a cDNA coding for the acetylcholine receptor alpha-subunit from a thymoma associated with myasthenia [correction of myastenia] gravis | journal = Thymus | volume = 23 | issue = 2 | pages = 103–13 | year = 1995 | pmid = 7725386 }}
  • {{cite journal | vauthors = Chauplannaz G, Bady B | title = [Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests] | journal = Revue Neurologique | volume = 150 | issue = 2 | pages = 142–8 | year = 1995 | pmid = 7863154 }}
  • {{cite journal | vauthors = Lobos EA | title = Five subunit genes of the human muscle nicotinic acetylcholine receptor are mapped to two linkage groups on chromosomes 2 and 17 | journal = Genomics | volume = 17 | issue = 3 | pages = 642–50 | date = September 1993 | pmid = 7902325 | doi = 10.1006/geno.1993.1384 }}
  • {{cite journal | vauthors = Green WN, Claudio T | title = Acetylcholine receptor assembly: subunit folding and oligomerization occur sequentially | journal = Cell | volume = 74 | issue = 1 | pages = 57–69 | date = July 1993 | pmid = 8334706 | doi = 10.1016/0092-8674(93)90294-Z | s2cid = 41385871 }}
  • {{cite journal | vauthors = Talib S, Okarma TB, Lebkowski JS | title = Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues | journal = Nucleic Acids Research | volume = 21 | issue = 2 | pages = 233–7 | date = January 1993 | pmid = 8441631 | pmc = 309097 | doi = 10.1093/nar/21.2.233 }}
  • {{cite journal | vauthors = Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM | title = New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome | journal = Human Molecular Genetics | volume = 5 | issue = 9 | pages = 1217–27 | date = September 1996 | pmid = 8872460 | doi = 10.1093/hmg/5.9.1217 | doi-access = free }}
  • {{cite journal | vauthors = Wang ZZ, Hardy SF, Hall ZW | title = Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo | journal = The Journal of Biological Chemistry | volume = 271 | issue = 44 | pages = 27575–84 | date = November 1996 | pmid = 8910344 | doi = 10.1074/jbc.271.44.27575 | doi-access = free }}
  • {{cite journal | vauthors = Croxen R, Newland C, Beeson D, Oosterhuis H, Chauplannaz G, Vincent A, Newsom-Davis J | title = Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome | journal = Human Molecular Genetics | volume = 6 | issue = 5 | pages = 767–74 | date = May 1997 | pmid = 9158151 | doi = 10.1093/hmg/6.5.767 | doi-access = free }}
  • {{cite journal | vauthors = Milone M, Wang HL, Ohno K, Fukudome T, Pruitt JN, Bren N, Sine SM, Engel AG | title = 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 | journal = The Journal of Neuroscience | volume = 17 | issue = 15 | pages = 5651–65 | date = August 1997 | pmid = 9221765 | pmc = 6573201 | doi = 10.1523/JNEUROSCI.17-15-05651.1997 }}

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