Biology:CHRNA1
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Short description: Protein-coding gene in humans
 Generic protein structure example |
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
- ↑ 1.0 1.1 "Entrez Gene: CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=1134.
- ↑ Morgan, Neil V.; Brueton, Louise A.; Cox, Phillip; Greally, Marie T.; Tolmie, John; Pasha, Shanaz; Aligianis, Irene A.; van Bokhoven, Hans et al. (2006-08-01). "Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome". The American Journal of Human Genetics 79 (2): 390–395. doi:10.1086/506256. ISSN 0002-9297. https://www.sciencedirect.com/science/article/pii/S0002929707631486.
- ↑ "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron 14 (3): 635–44. March 1995. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
- ↑ "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. doi:10.1074/jbc.271.44.27575. PMID 8910344.
Further reading
- "Binding of HIV-1 gp120 to the nicotinic receptor". FEBS Letters 311 (2): 115–8. October 1992. doi:10.1016/0014-5793(92)81380-5. PMID 1397297. Bibcode: 1992FEBSL.311..115B.
- "The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon". The EMBO Journal 9 (7): 2101–6. July 1990. doi:10.1002/j.1460-2075.1990.tb07378.x. PMID 1694127.
- "Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor". Nature 352 (6330): 64–7. July 1991. doi:10.1038/352064a0. PMID 1712080. Bibcode: 1991Natur.352...64Y.
- "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. doi:10.1111/j.1469-1809.1990.tb00378.x. PMID 2221824.
- "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. doi:10.1172/JCI113369. PMID 2449458.
- "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. doi:10.1016/0014-5793(88)81430-3. PMID 3338555. Bibcode: 1988FEBSL.226..235S.
- "The slow channel syndrome. Two new cases". Brain 110 ( Pt 4) (4): 1061–79. August 1987. doi:10.1093/brain/110.4.1061. PMID 3651795.
- "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. doi:10.1038/305818a0. PMID 6688857. Bibcode: 1983Natur.305..818N.
- "Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases". Muscle & Nerve 4 (4): 306–18. 1981. doi:10.1002/mus.880040407. PMID 7254233.
- "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. doi:10.1016/0896-6273(95)90080-2. PMID 7619526.
- "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron 14 (3): 635–44. March 1995. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
- "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. PMID 7725386.
- "[Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests]". Revue Neurologique 150 (2): 142–8. 1995. PMID 7863154.
- "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. doi:10.1006/geno.1993.1384. PMID 7902325.
- "Acetylcholine receptor assembly: subunit folding and oligomerization occur sequentially". Cell 74 (1): 57–69. July 1993. doi:10.1016/0092-8674(93)90294-Z. PMID 8334706.
- "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. doi:10.1093/nar/21.2.233. PMID 8441631.
- "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. doi:10.1093/hmg/5.9.1217. PMID 8872460.
- "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. doi:10.1074/jbc.271.44.27575. PMID 8910344.
- "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. doi:10.1093/hmg/6.5.767. PMID 9158151.
- "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. doi:10.1523/JNEUROSCI.17-15-05651.1997. PMID 9221765.
External links
- CHRNA1+protein,+human at the US 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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