Neuronal acetylcholine receptor subunit alpha-1, also known as nAChRα1, is a protein that in humans is encoded by the CHRNA1gene.[5] 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.[5]
^Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (March 1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–44. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
^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): 27575–84. doi:10.1074/jbc.271.44.27575. PMID 8910344.
Further readingEdit
Bracci L, Lozzi L, Rustici M, Neri P (October 1992). "Binding of HIV-1 gp120 to the nicotinic receptor". FEBS Letters. 311 (2): 115–8. doi:10.1016/0014-5793(92)81380-5. PMID 1397297. S2CID 22571925.
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): 2101–6. doi:10.1002/j.1460-2075.1990.tb07378.x. PMC551929. PMID 1694127.
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.
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): 657–60. doi:10.1172/JCI113369. PMC442511. PMID 2449458.
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): 235–40. doi:10.1016/0014-5793(88)81430-3. PMID 3338555. S2CID 32444215.
Oosterhuis HJ, Newsom-Davis J, Wokke JH, Molenaar PC, Weerden TV, Oen BS, Jennekens FG, Veldman H, Vincent A, Wray DW (August 1987). "The slow channel syndrome. Two new cases". Brain. 110 ( Pt 4) (4): 1061–79. doi:10.1093/brain/110.4.1061. PMID 3651795.
Noda M, Furutani Y, Takahashi H, Toyosato M, Tanabe T, Shimizu S, Kikyotani S, Kayano T, Hirose T, Inayama S (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. PMID 6688857. S2CID 4356354.
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): 306–18. doi:10.1002/mus.880040407. PMID 7254233. S2CID 31016642.
Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG (July 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. PMID 7619526. S2CID 1959504.
Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (March 1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–44. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
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): 103–13. PMID 7725386.
Chauplannaz G, Bady B (1995). "[Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests]". Revue Neurologique. 150 (2): 142–8. PMID 7863154.
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): 642–50. doi:10.1006/geno.1993.1384. PMID 7902325.
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.
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): 233–7. doi:10.1093/nar/21.2.233. PMC309097. PMID 8441631.
Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM (September 1996). "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome". Human Molecular Genetics. 5 (9): 1217–27. doi:10.1093/hmg/5.9.1217. PMID 8872460.
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): 27575–84. doi:10.1074/jbc.271.44.27575. PMID 8910344.
Croxen R, Newland C, Beeson D, Oosterhuis H, Chauplannaz G, Vincent A, Newsom-Davis J (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): 767–74. doi:10.1093/hmg/6.5.767. PMID 9158151.
Milone M, Wang HL, Ohno K, Fukudome T, Pruitt JN, Bren N, Sine SM, Engel AG (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): 5651–65. doi:10.1523/JNEUROSCI.17-15-05651.1997. PMC6573201. PMID 9221765.
chrna1, neuronal, acetylcholine, receptor, subunit, alpha, also, known, nachrα1, protein, that, humans, encoded, gene, protein, encoded, this, gene, subunit, certain, nicotinic, acetylcholine, receptors, nachr, available, structurespdbortholog, search, pdbe, r. Neuronal acetylcholine receptor subunit alpha 1 also known as nAChRa1 is a protein that in humans is encoded by the CHRNA1 gene 5 The protein encoded by this gene is a subunit of certain nicotinic acetylcholine receptors nAchR CHRNA1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes4ZJSIdentifiersAliasesCHRNA1 ACHRA ACHRD CHRNA CMS2A FCCMS SCCMS CMS1A CMS1B Cholinergic receptor nicotinic alpha 1 cholinergic receptor nicotinic alpha 1 subunitExternal IDsOMIM 100690 MGI 87885 HomoloGene 59 GeneCards CHRNA1Gene location Human Chr Chromosome 2 human 1 Band2q31 1Start174 747 592 bp 1 End174 787 935 bp 1 Gene location Mouse Chr Chromosome 2 mouse 2 Band2 C3 2 43 76 cMStart73 393 559 bp 2 End73 410 682 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed ingastrocnemius muscletibialis anterior muscledeltoid muscletriceps brachii musclequadriceps femoris musclevastus lateralis muscleanterior pituitaryrectumhippocampus properlymph nodeTop expressed inankleextraocular muscleankle jointinternal carotid arterysoleus musclevastus lateralis muscletemporal muscletriceps brachii musclethoracic diaphragmsternocleidomastoid muscleMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionextracellular ligand gated ion channel activity acetylcholine receptor activity ligand gated ion channel activity ion channel activity acetylcholine binding acetylcholine gated cation selective channel activity transmembrane signaling receptor activity transmitter gated ion channel activity involved in regulation of postsynaptic membrane potentialCellular componentintegral component of membrane membrane synapse cell junction plasma membrane neuromuscular junction cell surface postsynaptic membrane acetylcholine gated channel complex integral component of postsynaptic specialization membrane integral component of plasma membrane neuron projectionBiological processmuscle cell cellular homeostasis neuron cellular homeostasis regulation of membrane potential skeletal muscle contraction response to nicotine cation transport synaptic transmission cholinergic ion transport skeletal muscle tissue growth neuromuscular synaptic transmission neuromuscular process neuromuscular junction development musculoskeletal movement signal transduction neuronal action potential regulation of postsynaptic membrane potential excitatory postsynaptic potential ion transmembrane transport chemical synaptic transmission nervous system processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez113411435EnsemblENSG00000138435ENSMUSG00000027107UniProtP02708P04756RefSeq mRNA NM 001039523NM 000079NM 007389RefSeq protein NP 000070NP 001034612NP 031415Location UCSC Chr 2 174 75 174 79 MbChr 2 73 39 73 41 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseThe 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 5 Contents 1 Interactions 2 See also 3 References 4 Further reading 5 External linksInteractions EditCholinergic receptor nicotinic alpha 1 has been shown to interact with CHRND 6 7 See also EditNicotinic acetylcholine receptorReferences Edit a b c GRCh38 Ensembl release 89 ENSG00000138435 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000027107 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b Entrez Gene CHRNA1 cholinergic receptor nicotinic alpha 1 muscle Kreienkamp HJ Maeda RK Sine SM Taylor P March 1995 Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor Neuron 14 3 635 44 doi 10 1016 0896 6273 95 90320 8 PMID 7695910 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 84 doi 10 1074 jbc 271 44 27575 PMID 8910344 Further reading EditBracci L Lozzi L Rustici M Neri P October 1992 Binding of HIV 1 gp120 to the nicotinic receptor FEBS Letters 311 2 115 8 doi 10 1016 0014 5793 92 81380 5 PMID 1397297 S2CID 22571925 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 6 doi 10 1002 j 1460 2075 1990 tb07378 x PMC 551929 PMID 1694127 Yu XM Hall ZW July 1991 Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor Nature 352 6330 64 7 Bibcode 1991Natur 352 64Y doi 10 1038 352064a0 PMID 1712080 S2CID 4245374 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 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 60 doi 10 1172 JCI113369 PMC 442511 PMID 2449458 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 40 doi 10 1016 0014 5793 88 81430 3 PMID 3338555 S2CID 32444215 Oosterhuis HJ Newsom Davis J Wokke JH Molenaar PC Weerden TV Oen BS Jennekens FG Veldman H Vincent A Wray DW August 1987 The slow channel syndrome Two new cases Brain 110 Pt 4 4 1061 79 doi 10 1093 brain 110 4 1061 PMID 3651795 Noda M Furutani Y Takahashi H Toyosato M Tanabe T Shimizu S Kikyotani S Kayano T Hirose T Inayama S 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 PMID 6688857 S2CID 4356354 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 amp Nerve 4 4 306 18 doi 10 1002 mus 880040407 PMID 7254233 S2CID 31016642 Sine SM Ohno K Bouzat C Auerbach A Milone M Pruitt JN Engel AG July 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 PMID 7619526 S2CID 1959504 Kreienkamp HJ Maeda RK Sine SM Taylor P March 1995 Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor Neuron 14 3 635 44 doi 10 1016 0896 6273 95 90320 8 PMID 7695910 Gattenlohner S Brabletz T Schultz A Marx A Muller 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 13 PMID 7725386 Chauplannaz G Bady B 1995 Hereditary myasthenic syndromes with late onset Value of electrophysiological tests Revue Neurologique 150 2 142 8 PMID 7863154 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 50 doi 10 1006 geno 1993 1384 PMID 7902325 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 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 7 doi 10 1093 nar 21 2 233 PMC 309097 PMID 8441631 Engel AG Ohno K Milone M Wang HL Nakano S Bouzat C Pruitt JN Hutchinson DO Brengman JM Bren N Sieb JP Sine SM September 1996 New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow channel congenital myasthenic syndrome Human Molecular Genetics 5 9 1217 27 doi 10 1093 hmg 5 9 1217 PMID 8872460 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 84 doi 10 1074 jbc 271 44 27575 PMID 8910344 Croxen R Newland C Beeson D Oosterhuis H Chauplannaz G Vincent A Newsom Davis J 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 74 doi 10 1093 hmg 6 5 767 PMID 9158151 Milone M Wang HL Ohno K Fukudome T Pruitt JN Bren N Sine SM Engel AG 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 65 doi 10 1523 JNEUROSCI 17 15 05651 1997 PMC 6573201 PMID 9221765 External links EditCHRNA1 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 This membrane protein related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title CHRNA1 amp oldid 1142685804, wikipedia, wiki, book, books, library,
