NameAcetylcholine receptor subunit gamma
Synonyms
  • ACHRG
Gene NameCHRNG
OrganismHuman
Amino acid sequence
>lcl|BSEQ0009583|Acetylcholine receptor subunit gamma
MHGGQGPLLLLLLLAVCLGAQGRNQEERLLADLMQNYDPNLRPAERDSDVVNVSLKLTLT
NLISLNEREEALTTNVWIEMQWCDYRLRWDPRDYEGLWVLRVPSTMVWRPDIVLENNVDG
VFEVALYCNVLVSPDGCIYWLPPAIFRSACSISVTYFPFDWQNCSLIFQSQTYSTNEIDL
QLSQEDGQTIEWIFIDPEAFTENGEWAIQHRPAKMLLDPAAPAQEAGHQKVVFYLLIQRK
PLFYVINIIAPCVLISSVAILIHFLPAKAGGQKCTVAINVLLAQTVFLFLVAKKVPETSQ
AVPLISKYLTFLLVVTILIVVNAVVVLNVSLRSPHTHSMARGVRKVFLRLLPQLLRMHVR
PLAPAAVQDTQSRLQNGSSGWSITTGEEVALCLPRSELLFQQWQRQGLVAAALEKLEKGP
ELGLSQFCGSLKQAAPAIQACVEACNLIACARHQQSHFDNGNEEWFLVGRVLDRVCFLAM
LSLFICGTAGIFLMAHYNRVPALPFPGDPRPYLPSPD
Number of residues517
Molecular Weight57882.8
Theoretical pINot Available
GO Classification
Functions
  • acetylcholine receptor activity
  • channel activity
  • acetylcholine-activated cation-selective channel activity
Processes
  • synaptic transmission
  • synaptic transmission, cholinergic
  • neuromuscular synaptic transmission
  • response to nicotine
  • regulation of membrane potential
  • muscle contraction
  • cation transmembrane transport
  • neurological system process
  • transport
  • signal transduction
Components
  • postsynaptic membrane
  • plasma membrane
  • cell junction
  • integral component of plasma membrane
  • synapse
  • neuron projection
  • acetylcholine-gated channel complex
General FunctionChannel 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 Regions241-265 275-293 309-330 475-495
GenBank Protein IDNot Available
UniProtKB IDP07510
UniProtKB Entry NameACHG_HUMAN
Cellular LocationCell junction
Gene sequence
>lcl|BSEQ0017504|Acetylcholine receptor subunit gamma (CHRNG)
ATGCATGGGGGCCAGGGGCCGCTGCTCCTCCTGCTGCTGCTGGCTGTCTGCCTGGGGGCC
CAGGGCCGGAACCAGGAGGAGCGCCTGCTCGCAGACCTGATGCAAAACTACGACCCCAAC
CTGCGGCCCGCGGAACGAGACTCGGATGTGGTCAATGTCAGCCTGAAGCTAACCCTCACC
AACCTCATCTCCCTGAACGAGCGAGAGGAAGCCCTCACCACCAATGTCTGGATAGAGATG
CAGTGGTGCGACTATCGCCTGCGCTGGGATCCGCGAGACTACGAAGGCCTGTGGGTGCTG
AGGGTGCCGTCCACCATGGTGTGGCGGCCGGATATCGTGCTGGAGAACAACGTGGACGGT
GTCTTCGAGGTGGCCCTCTACTGCAATGTGCTCGTGTCCCCTGACGGCTGTATCTACTGG
CTGCCGCCTGCCATCTTCCGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGAC
TGGCAGAACTGCTCCCTTATCTTCCAGTCCCAGACTTACAGCACCAATGAGATTGATCTG
CAGCTGAGTCAGGAAGATGGCCAGACCATCGAGTGGATTTTCATTGACCCTGAGGCCTTC
ACAGAGAATGGGGAGTGGGCCATCCAGCACCGACCAGCCAAGATGCTCCTGGACCCAGCG
GCGCCAGCCCAGGAAGCAGGCCACCAGAAGGTGGTGTTCTACCTGCTCATCCAGCGCAAG
CCCCTCTTCTACGTCATCAACATCATCGCCCCCTGTGTGCTCATCTCCTCTGTCGCCATC
CTCATCCACTTCCTTCCTGCCAAGGCTGGGGGCCAGAAGTGTACCGTCGCCATCAACGTG
CTCCTGGCCCAGACTGTCTTCCTCTTCCTTGTGGCCAAGAAGGTGCCTGAAACCTCCCAG
GCGGTGCCACTCATCAGCAAGTACCTGACCTTCCTCCTGGTGGTGACCATCCTCATTGTC
GTGAATGCTGTGGTTGTGCTCAATGTCTCCTTGCGGTCTCCACACACACACTCCATGGCC
CGAGGGGTCCGCAAGGTGTTCCTGAGGCTCTTGCCCCAGCTGCTGAGGATGCACGTTCGC
CCGCTGGCCCCGGCAGCTGTGCAGGACACCCAGTCCCGGCTACAGAATGGCTCCTCGGGA
TGGTCGATCACAACTGGGGAGGAGGTGGCCCTCTGCCTGCCTCGCAGTGAACTCCTCTTC
CAGCAGTGGCAGCGGCAAGGGCTGGTGGCGGCAGCGCTGGAGAAGCTAGAGAAAGGCCCG
GAGTTAGGGCTGAGCCAGTTCTGTGGCAGCCTGAAGCAGGCTGCCCCAGCCATCCAGGCC
TGTGTGGAAGCCTGCAACCTCATTGCCTGTGCCCGGCACCAGCAGAGTCACTTTGACAAT
GGGAATGAGGAGTGGTTCCTGGTGGGCCGAGTGCTGGACCGCGTCTGCTTCCTGGCCATG
CTCTCGCTCTTCATCTGTGGCACAGCTGGCATCTTCCTCATGGCCCACTACAACCGGGTG
CCGGCCCTGCCATTCCCTGGAGATCCACGCCCCTACCTGCCCTCACCAGACTGA
GenBank Gene IDNot Available
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:1967
Chromosome Location2
LocusNot Available
References
  1. Shibahara S, Kubo T, Perski HJ, Takahashi H, Noda M, Numa S: Cloning and sequence analysis of human genomic DNA encoding gamma subunit precursor of muscle acetylcholine receptor. Eur J Biochem. 1985 Jan 2;146(1):15-22. 3967651
  2. Beeson D, Brydson M, Betty M, Jeremiah S, Povey S, Vincent A, Newsom-Davis J: Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits. Eur J Biochem. 1993 Jul 15;215(2):229-38. 7688301
  3. 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
  4. Hillier LW, Graves TA, Fulton RS, Fulton LA, Pepin KH, Minx P, Wagner-McPherson C, Layman D, Wylie K, Sekhon M, Becker MC, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Kremitzki C, Oddy L, Du H, Sun H, Bradshaw-Cordum H, Ali J, Carter J, Cordes M, Harris A, Isak A, van Brunt A, Nguyen C, Du F, Courtney L, Kalicki J, Ozersky P, Abbott S, Armstrong J, Belter EA, Caruso L, Cedroni M, Cotton M, Davidson T, Desai A, Elliott G, Erb T, Fronick C, Gaige T, Haakenson W, Haglund K, Holmes A, Harkins R, Kim K, Kruchowski SS, Strong CM, Grewal N, Goyea E, Hou S, Levy A, Martinka S, Mead K, McLellan MD, Meyer R, Randall-Maher J, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Shah N, Swearengen-Shahid S, Snider J, Strong JT, Thompson J, Yoakum M, Leonard S, Pearman C, Trani L, Radionenko M, Waligorski JE, Wang C, Rock SM, Tin-Wollam AM, Maupin R, Latreille P, Wendl MC, Yang SP, Pohl C, Wallis JW, Spieth J, Bieri TA, Berkowicz N, Nelson JO, Osborne J, Ding L, Meyer R, Sabo A, Shotland Y, Sinha P, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Jones TA, She X, Ciccarelli FD, Izaurralde E, Taylor J, Schmutz J, Myers RM, Cox DR, Huang X, McPherson JD, Mardis ER, Clifton SW, Warren WC, Chinwalla AT, Eddy SR, Marra MA, Ovcharenko I, Furey TS, Miller W, Eichler EE, Bork P, Suyama M, Torrents D, Waterston RH, Wilson RK: Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. 15815621
  5. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334
  6. Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, Lochmuller H, Hubner C, Mundlos S: Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am J Hum Genet. 2006 Aug;79(2):303-12. Epub 2006 Jun 20. 16826520
  7. Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L, Morton JE, Oley C, Johnson CA, Trembath RC, Brunner HG, Maher ER: Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet. 2006 Aug;79(2):390-5. Epub 2006 Jun 20. 16826531