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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
  • acetylcholine binding
  • ion channel activity
  • acetylcholine-activated cation-selective channel activity
  • acetylcholine receptor activity
Processes
  • neuron cellular homeostasis
  • ion transmembrane transport
  • musculoskeletal movement
  • neuromuscular process
  • synaptic transmission, cholinergic
  • skeletal muscle tissue growth
  • neuromuscular synaptic transmission
  • neuromuscular junction development
  • neuronal action potential
  • response to nicotine
  • transport
  • regulation of membrane potential
  • cation transmembrane transport
  • signal transduction
  • synaptic transmission
  • muscle cell cellular homeostasis
  • skeletal muscle contraction
Components
  • neuron projection
  • acetylcholine-gated channel complex
  • postsynaptic membrane
  • neuromuscular junction
  • plasma membrane
  • cell surface
  • cell junction
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
  1. Noda M, Furutani Y, Takahashi H, Toyosato M, Tanabe T, Shimizu S, Kikyotani S, Kayano T, Hirose T, Inayama S, et al.: Cloning and sequence analysis of calf cDNA and human genomic DNA encoding alpha-subunit precursor of muscle acetylcholine receptor. Nature. 1983 Oct 27-Nov 2;305(5937):818-23. 6688857
  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
  5. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. 14702039
  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
  15. Webster R, Brydson M, Croxen R, Newsom-Davis J, Vincent A, Beeson D: Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome. Neurology. 2004 Apr 13;62(7):1090-6. 15079006
  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
  17. Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Korber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K: Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet. 2008 Feb;82(2):464-76. doi: 10.1016/j.ajhg.2007.11.006. 18252226