CHRNA1

Neuronal acetylcholine receptor subunit alpha-1, also known as nAChRα1, 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).

CHRNA1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4ZJS
Identifiers
Aliases	CHRNA1, ACHRA, ACHRD, CHRNA, CMS2A, FCCMS, SCCMS, CMS1A, CMS1B, Cholinergic receptor, nicotinic, alpha 1, cholinergic receptor nicotinic alpha 1 subunit
External IDs	OMIM: 100690 MGI: 87885 HomoloGene: 59 GeneCards: CHRNA1
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q31.1 Start 174,747,592 bp[1] End 174,787,935 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 C3|2 43.76 cM Start 73,563,215 bp[2] End 73,580,338 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • extracellular 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 potential Cellular component • integral component of membrane • membrane • synapse • cell junction • cell membrane • neuromuscular junction • cell surface • postsynaptic membrane • acetylcholine-gated channel complex • integral component of postsynaptic specialization membrane • integral component of plasma membrane • neuron projection Biological process • muscle 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 • postsynaptic potential • excitatory postsynaptic potential • ion transmembrane transport • chemical synaptic transmission • nervous system process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	1134	11435
Ensembl	ENSG00000138435	ENSMUSG00000027107
UniProt	P02708	P04756
RefSeq (mRNA)	NM_001039523 NM_000079	NM_007389
RefSeq (protein)	NP_000070 NP_001034612	NP_031415
Location (UCSC)	Chr 2: 174.75 – 174.79 Mb	Chr 2: 73.56 – 73.58 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Interactions

Cholinergic receptor, nicotinic, alpha 1 has been shown to interact with CHRND.[6][7]

See also

• Nicotinic acetylcholine receptor

References

1. GRCh38: Ensembl release 89: ENSG00000138435 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000027107 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)".
6. 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.
7. 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

• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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.
• 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

• 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.