NameAcetylcholine receptor subunit alpha
Synonyms
  • ACHRA
  • CHNRA
Gene NameCHRNA1
OrganismHuman
Amino acid sequence
>lcl|BSEQ0009580|Acetylcholine receptor subunit alpha
MEPWPLLLLFSLCSAGLVLGSEHETRLVAKLFKDYSSVVRPVEDHRQVVEVTVGLQLIQL
INVDEVNQIVTTNVRLKQGDMVDLPRPSCVTLGVPLFSHLQNEQWVDYNLKWNPDDYGGV
KKIHIPSEKIWRPDLVLYNNADGDFAIVKFTKVLLQYTGHITWTPPAIFKSYCEIIVTHF
PFDEQNCSMKLGTWTYDGSVVAINPESDQPDLSNFMESGEWVIKESRGWKHSVTYSCCPD
TPYLDITYHFVMQRLPLYFIVNVIIPCLLFSFLTGLVFYLPTDSGEKMTLSISVLLSLTV
FLLVIVELIPSTSSAVPLIGKYMLFTMVFVIASIIITVIVINTHHRSPSTHVMPNWVRKV
FIDTIPNIMFFSTMKRPSREKQDKKIFTEDIDISDISGKPGPPPMGFHSPLIKHPEVKSA
IEGIKYIAETMKSDQESNNAAAEWKYVAMVMDHILLGVFMLVCIIGTLAVFAGRLIELNQ
QG
Number of residues482
Molecular Weight54545.235
Theoretical pINot Available
GO Classification
Functions
  • ion channel activity
  • acetylcholine-activated cation-selective channel activity
  • acetylcholine receptor activity
  • acetylcholine binding
Processes
  • cation transmembrane transport
  • signal transduction
  • synaptic transmission
  • muscle cell cellular homeostasis
  • skeletal muscle contraction
  • neuron cellular homeostasis
  • ion transmembrane transport
  • musculoskeletal movement
  • synaptic transmission, cholinergic
  • neuromuscular process
  • skeletal muscle tissue growth
  • neuromuscular synaptic transmission
  • neuromuscular junction development
  • neuronal action potential
  • response to nicotine
  • regulation of membrane potential
  • transport
Components
  • acetylcholine-gated channel complex
  • postsynaptic membrane
  • neuromuscular junction
  • plasma membrane
  • cell surface
  • cell junction
  • neuron projection
General FunctionIon channel activity
Specific FunctionAfter binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.
Pfam Domain Function
Transmembrane Regions256-280 288-306 322-341 454-472
GenBank Protein IDNot Available
UniProtKB IDP02708
UniProtKB Entry NameACHA_HUMAN
Cellular LocationCell junction
Gene sequence
>lcl|BSEQ0013245|Acetylcholine receptor subunit alpha (CHRNA1)
ATGGAGCCCTGGCCTCTCCTCCTGCTCTTTAGCCTTTGCTCAGCTGGCCTCGTCCTGGGC
TCCGAACATGAGACCCGTCTGGTGGCAAAGCTATTTAAAGACTACAGCAGCGTGGTGCGG
CCAGTGGAAGACCACCGCCAGGTCGTGGAGGTCACCGTGGGCCTGCAGCTGATACAGCTC
ATCAATGTGGATGAAGTAAATCAGATCGTGACAACCAATGTGCGTCTGAAACAGCAATGG
GTGGATTACAACCTAAAATGGAATCCAGATGACTATGGCGGTGTGAAAAAAATTCACATT
CCTTCAGAAAAGATCTGGCGCCCAGACCTTGTTCTCTATAACAATGCAGATGGTGACTTT
GCTATTGTCAAGTTCACCAAAGTGCTCCTGCAGTACACTGGCCACATCACGTGGACACCT
CCAGCCATCTTTAAAAGCTACTGTGAGATCATCGTCACCCACTTTCCCTTTGATGAACAG
AACTGCAGCATGAAGCTGGGCACCTGGACCTACGACGGCTCTGTCGTGGCCATCAACCCG
GAAAGCGACCAGCCAGACCTGAGCAACTTCATGGAGAGCGGGGAGTGGGTGATCAAGGAG
TCCCGGGGCTGGAAGCACTCCGTGACCTATTCCTGCTGCCCCGACACCCCCTACCTGGAC
ATCACCTACCACTTCGTCATGCAGCGCCTGCCCCTCTACTTCATCGTCAACGTCATCATC
CCCTGCCTGCTCTTCTCCTTCTTAACTGGCCTGGTATTCTACCTGCCCACAGACTCAGGG
GAGAAGATGACTCTGAGCATCTCTGTCTTACTGTCTTTGACTGTGTTCCTTCTGGTCATC
GTGGAGCTGATCCCCTCCACGTCCAGTGCTGTGCCCTTGATTGGAAAATACATGCTGTTC
ACCATGGTGTTCGTCATTGCCTCCATCATCATCACTGTCATCGTCATCAACACACACCAC
CGCTCACCCAGCACCCATGTCATGCCCAACTGGGTGCGGAAGGTTTTTATCGACACTATC
CCAAATATCATGTTTTTCTCCACAATGAAAAGACCATCCAGAGAAAAGCAAGACAAAAAG
ATTTTTACAGAAGACATTGATATCTCTGACATTTCTGGAAAGCCAGGGCCTCCACCCATG
GGCTTCCACTCTCCCCTGATCAAACACCCCGAGGTGAAAAGTGCCATCGAGGGCATCAAG
TACATCGCAGAGACCATGAAGTCAGACCAGGAGTCTAACAATGCGGCGGCAGAGTGGAAG
TACGTTGCAATGGTGATGGACCACATACTCCTCGGAGTCTTCATGCTTGTTTGCATCATC
GGAACCCTAGCCGTGTTTGCAGGTCGACTCATTGAATTAAATCAGCAAGGATGA
GenBank Gene IDNot Available
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:1955
Chromosome Location2
LocusNot Available
References
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  2. Schoepfer R, Luther M, Lindstrom J: The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA. FEBS Lett. 1988 Jan 4;226(2):235-40. 3338555
  3. Beeson D, Morris A, Vincent A, Newsom-Davis J: The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon. EMBO J. 1990 Jul;9(7):2101-6. 1694127
  4. Gattenlohner S, Brabletz T, Schultz A, Marx A, Muller-Hermelink HK, Kirchner T: Cloning of a cDNA coding for the acetylcholine receptor alpha-subunit from a thymoma associated with myasthenia [correction of myastenia] gravis. Thymus. 1994;23(2):103-13. 7725386
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  6. Hohlfeld R, Toyka KV, Miner LL, Walgrave SL, Conti-Tronconi BM: Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravis. J Clin Invest. 1988 Mar;81(3):657-60. 2449458
  7. Talib S, Okarma TB, Lebkowski JS: Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues. Nucleic Acids Res. 1993 Jan 25;21(2):233-7. 8441631
  8. Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. Sci Signal. 2009 Aug 18;2(84):ra46. doi: 10.1126/scisignal.2000007. 19690332
  9. Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG: Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. Neuron. 1995 Jul;15(1):229-39. 7619526
  10. Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM: New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum Mol Genet. 1996 Sep;5(9):1217-27. 8872460
  11. Croxen R, Newland C, Beeson D, Oosterhuis H, Chauplannaz G, Vincent A, Newsom-Davis J: Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. Hum Mol Genet. 1997 May;6(5):767-74. 9158151
  12. Milone M, Wang HL, Ohno K, Fukudome T, Pruitt JN, Bren N, Sine SM, Engel AG: 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. J Neurosci. 1997 Aug 1;17(15):5651-65. 9221765
  13. Wang HL, Milone M, Ohno K, Shen XM, Tsujino A, Batocchi AP, Tonali P, Brengman J, Engel AG, Sine SM: Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating. Nat Neurosci. 1999 Mar;2(3):226-33. 10195214
  14. Shen XM, Ohno K, Tsujino A, Brengman JM, Gingold M, Sine SM, Engel AG: Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating. J Clin Invest. 2003 Feb;111(4):497-505. 12588888
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  16. Shen XM, Deymeer F, Sine SM, Engel AG: Slow-channel mutation in acetylcholine receptor alphaM4 domain and its efficient knockdown. Ann Neurol. 2006 Jul;60(1):128-36. 16685696
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