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Homo sapiens cholinergic receptor, nicotinic, epsilon (muscle) (CHRNE), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000080 Homo sapiens cholinergic receptor, nicotinic, epsilon (muscle) (CHRNE), mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_000080.3, 294862246
Length 2460 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens cholinergic receptor, nicotinic, epsilon (muscle) (CHRNE), mRNA.
Product acetylcholine receptor subunit epsilon precursor
Comment

Summary: Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009].


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_000071.1
CDS 12..1493
Misc Feature(1)81..731
Misc Feature(2)729..803
Misc Feature(3)750..1433
Misc Feature(4)828..884
Misc Feature(5)930..995
Misc Feature(6)1380..1451
Exon (1)58..200
Gene:CHRNE
Gene Synonym:ACHRE; CMS1D; CMS1E; CMS2A; FCCMS; SCCMS
Exon (2)201..245
Gene:CHRNE
Gene Synonym:ACHRE; CMS1D; CMS1E; CMS2A; FCCMS; SCCMS
Exon (3)246..355
Gene:CHRNE
Gene Synonym:ACHRE; CMS1D; CMS1E; CMS2A; FCCMS; SCCMS
Exon (4)356..511
Gene:CHRNE
Gene Synonym:ACHRE; CMS1D; CMS1E; CMS2A; FCCMS; SCCMS
Exon (5)512..612
Gene:CHRNE
Gene Synonym:ACHRE; CMS1D; CMS1E; CMS2A; FCCMS; SCCMS
Exon (6)613..813
Gene:CHRNE
Gene Synonym:ACHRE; CMS1D; CMS1E; CMS2A; FCCMS; SCCMS
Exon (7)814..928
Gene:CHRNE
Gene Synonym:ACHRE; CMS1D; CMS1E; CMS2A; FCCMS; SCCMS
Exon (8)929..1043
Gene:CHRNE
Gene Synonym:ACHRE; CMS1D; CMS1E; CMS2A; FCCMS; SCCMS
Exon (9)1044..1230
Gene:CHRNE
Gene Synonym:ACHRE; CMS1D; CMS1E; CMS2A; FCCMS; SCCMS
Exon (10)1231..1337
Gene:CHRNE
Gene Synonym:ACHRE; CMS1D; CMS1E; CMS2A; FCCMS; SCCMS
Exon (11)1338..2460
Gene:CHRNE
Gene Synonym:ACHRE; CMS1D; CMS1E; CMS2A; FCCMS; SCCMS
Translation MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVREPEDTVTISLKVTLTNL ISLNEKEETLTTSVWIGIDWQDYRLNYSKDDFGGIETLRVPSELVWLPEIVLENNIDGQF GVAYDANVLVYEGGSVTWLPPAIYRSVCAVEVTYFPFDWQNCSLIFRSQTYNAEEVEFTF AVDNDGKTINKIDIDTEAYTENGEWAIDFCPGVIRRHHGGATDGPGETDVIYSLIIRRKP LFYVINIIVPCVLISGLVLLAYFLPAQAGGQKCTVSINVLLAQTVFLFLIAQKIPETSLS VPLLGRFLIFVMVVATLIVMNCVIVLNVSQRTPTTHAMSPRLRHVLLELLPRLLGSPPPP EAPRAASPPRRASSVGLLLRAEELILKKPRSELVFEGQRHRQGTWTAAFCQSLGAAAPEV RCCVDAVNFVAESTRDQEATGEEVSDWVRMGNALDNICFWAALVLFSVGSSLIFLGAYFN RVPDLPYAPCIQP
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Position Chain Variation Link
complement(4)-dbSNP:
complement(4)-t, cdbSNP:77481135
complement(17)-t, cdbSNP:202198207
complement(18)-t, cdbSNP:201118080
complement(34)-g, adbSNP:199807050
complement(35)-g, cdbSNP:147811172
complement(56)-t, cdbSNP:34563587
complement(64)-dbSNP:
complement(64)-c, adbSNP:4790235
complement(77)-t, cdbSNP:55770091
complement(88)-t, cdbSNP:188661284
complement(114)-g, adbSNP:144169073
complement(213)-dbSNP:
complement(213)-g, cdbSNP:149766604
complement(261)-dbSNP:
complement(261)-t, cdbSNP:121909513
complement(304)-t, cdbSNP:28929768
complement(360)-dbSNP:
complement(360)-c, adbSNP:199708479
complement(371)-g, adbSNP:140042356
complement(387)-c, adbSNP:200515887
complement(411)-t, cdbSNP:183983159
complement(421)-t, gdbSNP:146089157
complement(433)-t, cdbSNP:121909512
complement(466)-t, adbSNP:142901746
complement(476)-g, adbSNP:139625105
complement(485)-g, adbSNP:150868720
complement(499)-t, g, cdbSNP:121909516
complement(511)-t, gdbSNP:121909514
complement(517)-dbSNP:
complement(517)-t, adbSNP:148370803
complement(527)-g, adbSNP:143410438
complement(530)-g, adbSNP:33970119
complement(566)-g, adbSNP:137952354
complement(592)-g, adbSNP:146931108
complement(682)-dbSNP:
complement(682)-t, cdbSNP:141183965
complement(717)-t, gdbSNP:145522662
complement(721)-c, adbSNP:201434993
complement(732)-t, cdbSNP:28999110
complement(737)-g, adbSNP:150133823
complement(780)-g, adbSNP:140846401
complement(808)-g, adbSNP:201463598
complement(832)-dbSNP:
complement(832)-g, adbSNP:201841042
complement(861)-c, adbSNP:121909510
complement(872)-c, adbSNP:151006465
complement(876)-t, cdbSNP:121909511
complement(894)-g, adbSNP:61735425
complement(907)-g, adbSNP:142735836
complement(912)-t, cdbSNP:140023380
complement(958)-dbSNP:
complement(958)-g, adbSNP:146533655
complement(959)-t, cdbSNP:144207552
complement(977)-t, cdbSNP:56377005
complement(1002)-t, cdbSNP:121909515
complement(1017)-t, gdbSNP:144747573
complement(1023)-t, gdbSNP:200035803
complement(1028)-g, cdbSNP:114454383
complement(1030)-t, gdbSNP:139922367
complement(1041)-g, cdbSNP:150691660
complement(1043)-g, adbSNP:144047383
complement(1087)-dbSNP:
complement(1087)-g, adbSNP:192195094
complement(1179)-g, adbSNP:140763858
complement(1183)-c, adbSNP:138546068
complement(1184)-g, adbSNP:146921234
complement(1256)-dbSNP:
complement(1256)-g, adbSNP:202051373
complement(1273)-t, cdbSNP:144952259
complement(1300)-g, adbSNP:200343520
complement(1302)-g, cdbSNP:121909517
complement(1304)-g, adbSNP:33978919
complement(1316)-g, adbSNP:55681486
complement(1355)-dbSNP:
complement(1355)-g, cdbSNP:143098859
complement(1356)-g, adbSNP:149083639
complement(1385)-g, adbSNP:201030784
complement(1413)-g, cdbSNP:139171143
complement(1427)-g, adbSNP:145456588
complement(1436)-g, adbSNP:151193377
complement(1499)-g, adbSNP:55806270
complement(1530)-g, adbSNP:2229199
complement(1536)-t, cdbSNP:2229200
complement(1554)-g, adbSNP:12940036
complement(1558)-t, cdbSNP:56067981
complement(1637)-g, adbSNP:12936083
complement(1762)-g, adbSNP:12950092
complement(1826)-, adbSNP:202016238
complement(1927)-g, adbSNP:77966333
complement(1930)-g, cdbSNP:3514
complement(2103)-g, adbSNP:144554248
complement(2236)-c, adbSNP:1053754
complement(2237)-t, gdbSNP:200249157
complement(2237)-c, adbSNP:116615992
complement(2238)-t, cdbSNP:1053751
complement(2248..2250)-, ctcdbSNP:145709975
complement(2248)-, cdbSNP:201114697
complement(2250..2251)-g, adbSNP:3087773
complement(2253)-g, cdbSNP:112548629
complement(2298)-c, adbSNP:113366718
complement(2330)-t, g, adbSNP:8834
complement(2361)-t, g, c, adbSNP:7774
complement(2369)-t, cdbSNP:192238331
complement(2399)-g, cdbSNP:9914357
complement(2423)-c, adbSNP:116802199
complement(2424)-c, adbSNP:186131152
Gene SymbolCHRNE
Gene SynonymACHRE; CMS1D; CMS1E; CMS2A; FCCMS; SCCMS
Chromosome17
Locus Map17p13.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000080 Homo sapiens cholinergic receptor, nicotinic, epsilon (muscle) (CHRNE), mRNA. On-demand TBD TBD
Title A new mouse model for the slow-channel congenital myasthenic syndrome induced by the AChR epsilonL221F mutation .
Author Chevessier,F., Peter,C., Mersdorf,U., Girard,E., Krejci,E., McArdle,J.J. and Witzemann,V.
Journal Neurobiol. Dis. 45 (3), 851-861 (2012)
Title Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE .
Author Maselli,R.A., Arredondo,J., Cagney,O., Mozaffar,T., Skinner,S., Yousif,S., Davis,R.R., Gregg,J.P., Sivak,M., Konia,T.H., Thomas,K. and Wollmann,R.L.
Journal Clin. Genet. 80 (5), 444-451 (2011)
Title Neurotoxicity induced by okadaic acid in the human neuroblastoma SH-SY5Y line can be differentially prevented by alpha7 and beta2* nicotinic stimulation .
Author Del Barrio,L., Martin-de-Saavedra,M.D., Romero,A., Parada,E., Egea,J., Avila,J., McIntosh,J.M., Wonnacott,S. and Lopez,M.G.
Journal Toxicol. Sci. 123 (1), 193-205 (2011)
Title Modulation of the Ca(2+) permeability of human endplate acetylcholine receptor-channel .
Author Piccari,V., Deflorio,C., Bigi,R., Grassi,F. and Fucile,S.
Journal Cell Calcium 49 (4), 272-278 (2011)
Title Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia .
Author Salih,M.A., Oystreck,D.T., Al-Faky,Y.H., Kabiraj,M., Omer,M.I., Subahi,E.M., Beeson,D., Abu-Amero,K.K. and Bosley,T.M.
Journal J Neuroophthalmol 31 (1), 42-47 (2011)
Title A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the slow-channel syndrome .
Author Gomez,C.M. and Gammack,J.T.
Journal Neurology 45 (5), 982-985 (1995)
Title Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit .
Author Ohno,K., Hutchinson,D.O., Milone,M., Brengman,J.M., Bouzat,C., Sine,S.M. and Engel,A.G.
Journal Proc. Natl. Acad. Sci. U.S.A. 92 (3), 758-762 (1995)
Title Five subunit genes of the human muscle nicotinic acetylcholine receptor are mapped to two linkage groups on chromosomes 2 and 17 .
Author Lobos,E.A.
Journal Genomics 17 (3), 642-650 (1993)
Title Primary structure of the human muscle acetylcholine receptor. cDNA cloning of the gamma and epsilon subunits .
Author Beeson,D., Brydson,M., Betty,M., Jeremiah,S., Povey,S., Vincent,A. and Newsom-Davis,J.
Journal Eur. J. Biochem. 215 (2), 229-238 (1993)
Title Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor .
Author Yu,X.M. and Hall,Z.W.
Journal Nature 352 (6330), 64-67 (1991)


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