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Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_001039523 Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA. ORF Sequence $420.21
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RefSeq Version NM_001039523.2, 189571658
Length 2094 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.
Product acetylcholine receptor subunit alpha isoform a precursor
Comment

Summary: The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012].


Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).

RefSeq NP_001034612.1
CDS 79..1527
Misc Feature(1)73..75
Misc Feature(2)139..1494
Misc Feature(3)148..846
Misc Feature(4)844..918
Misc Feature(5)865..1491
Misc Feature(6)940..996
Misc Feature(7)1042..1101
Misc Feature(8)1438..1494
Exon (1)1..121
Gene:CHRNA1
Gene Synonym:ACHRA; ACHRD; CHRNA; CMS2A; FCCMS; SCCMS
Exon (2)122..267
Gene:CHRNA1
Gene Synonym:ACHRA; ACHRD; CHRNA; CMS2A; FCCMS; SCCMS
Exon (3)268..312
Gene:CHRNA1
Gene Synonym:ACHRA; ACHRD; CHRNA; CMS2A; FCCMS; SCCMS
Exon (4)313..387
Gene:CHRNA1
Gene Synonym:ACHRA; ACHRD; CHRNA; CMS2A; FCCMS; SCCMS
Exon (5)388..497
Gene:CHRNA1
Gene Synonym:ACHRA; ACHRD; CHRNA; CMS2A; FCCMS; SCCMS
Exon (6)498..693
Gene:CHRNA1
Gene Synonym:ACHRA; ACHRD; CHRNA; CMS2A; FCCMS; SCCMS
Exon (7)694..931
Gene:CHRNA1
Gene Synonym:ACHRA; ACHRD; CHRNA; CMS2A; FCCMS; SCCMS
Exon (8)932..1155
Gene:CHRNA1
Gene Synonym:ACHRA; ACHRD; CHRNA; CMS2A; FCCMS; SCCMS
Exon (9)1156..1395
Gene:CHRNA1
Gene Synonym:ACHRA; ACHRD; CHRNA; CMS2A; FCCMS; SCCMS
Exon (10)1396..2059
Gene:CHRNA1
Gene Synonym:ACHRA; ACHRD; CHRNA; CMS2A; FCCMS; SCCMS
Translation MEPWPLLLLFSLCSAGLVLGSEHETRLVAKLFKDYSSVVRPVEDHRQVVEVTVGLQLIQL INVDEVNQIVTTNVRLKQGDMVDLPRPSCVTLGVPLFSHLQNEQWVDYNLKWNPDDYGGV KKIHIPSEKIWRPDLVLYNNADGDFAIVKFTKVLLQYTGHITWTPPAIFKSYCEIIVTHF PFDEQNCSMKLGTWTYDGSVVAINPESDQPDLSNFMESGEWVIKESRGWKHSVTYSCCPD TPYLDITYHFVMQRLPLYFIVNVIIPCLLFSFLTGLVFYLPTDSGEKMTLSISVLLSLTV FLLVIVELIPSTSSAVPLIGKYMLFTMVFVIASIIITVIVINTHHRSPSTHVMPNWVRKV FIDTIPNIMFFSTMKRPSREKQDKKIFTEDIDISDISGKPGPPPMGFHSPLIKHPEVKSA IEGIKYIAETMKSDQESNNAAAEWKYVAMVMDHILLGVFMLVCIIGTLAVFAGRLIELNQ QG
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Position Chain Variation Link
complement(42)-dbSNP:
complement(42)-t, cdbSNP:182459320
complement(62)-t, gdbSNP:190007991
complement(71)-t, cdbSNP:138563328
complement(79)-t, cdbSNP:146464862
complement(92)-g, cdbSNP:185544602
complement(110)-t, cdbSNP:144897150
complement(130)-dbSNP:
complement(130)-g, cdbSNP:202221890
complement(207)-t, gdbSNP:140247604
complement(215)-t, cdbSNP:149851833
complement(255)-g, cdbSNP:199899006
complement(296)-dbSNP:
complement(296)-t, cdbSNP:141121555
complement(298)-t, cdbSNP:140059448
complement(302)-t, cdbSNP:147488907
complement(334)-dbSNP:
complement(334)-g, adbSNP:75536736
complement(355)-t, cdbSNP:146743352
complement(384)-t, adbSNP:150585253
complement(435..436)-dbSNP:
complement(435..436)-, ccdbSNP:144488904
complement(472)-g, adbSNP:140268343
complement(477)-t, gdbSNP:199555685
complement(525)-dbSNP:
complement(525)-t, cdbSNP:143047599
complement(603)-g, cdbSNP:200163630
complement(607)-g, cdbSNP:137852807
complement(670)-g, adbSNP:137852801
complement(678)-g, adbSNP:186421442
complement(679)-g, adbSNP:137852799
complement(694)-dbSNP:
complement(694)-, cdbSNP:141198900
complement(700)-t, cdbSNP:145421881
complement(733)-t, cdbSNP:201147926
complement(749)-t, cdbSNP:76911424
complement(774)-g, adbSNP:74533173
complement(796)-t, cdbSNP:148304857
complement(808)-g, adbSNP:150638770
complement(829)-t, cdbSNP:200102479
complement(832)-t, cdbSNP:111856577
complement(839)-t, gdbSNP:137852809
complement(858)-t, gdbSNP:143252724
complement(864)-g, cdbSNP:137852798
complement(876)-g, adbSNP:189442556
complement(903)-g, adbSNP:186607397
complement(910)-t, gdbSNP:137852805
complement(933)-dbSNP:
complement(933)-t, cdbSNP:148502695
complement(958)-t, gdbSNP:137852803
complement(974)-t, cdbSNP:137852800
complement(979)-t, cdbSNP:137852806
complement(1014)-t, cdbSNP:144020157
complement(1019)-t, gdbSNP:137852802
complement(1023)-g, adbSNP:142633480
complement(1045)-t, cdbSNP:201185358
complement(1066)-g, adbSNP:137852804
complement(1095)-g, adbSNP:200535960
complement(1101)-t, gdbSNP:141733086
complement(1108)-g, adbSNP:150110639
complement(1113)-t, g, c, adbSNP:2229957
complement(1217)-dbSNP:
complement(1217)-t, cdbSNP:144533405
complement(1220)-t, gdbSNP:146863119
complement(1226)-t, adbSNP:6739001
complement(1241)-g, adbSNP:146771663
complement(1292)-g, adbSNP:149292107
complement(1294)-t, cdbSNP:199594911
complement(1314)-t, gdbSNP:200969433
complement(1315)-t, gdbSNP:202090282
complement(1323)-g, cdbSNP:141280544
complement(1335)-t, adbSNP:148655771
complement(1352)-t, cdbSNP:137916282
complement(1386)-c, adbSNP:61737716
complement(1395)-c, adbSNP:199545638
complement(1397)-dbSNP:
complement(1397)-g, adbSNP:200394375
complement(1401)-g, adbSNP:17838545
complement(1408)-t, adbSNP:61731797
complement(1446)-g, adbSNP:146899588
complement(1447)-t, cdbSNP:151081792
complement(1467)-g, cdbSNP:137852808
complement(1502)-g, adbSNP:111396728
complement(1741)-c, adbSNP:190389610
complement(1745)-g, adbSNP:79539026
complement(1874..1875)-, adbSNP:72060221
complement(1912)-g, cdbSNP:4524097
complement(1949)-c, adbSNP:184095877
complement(1953)-t, gdbSNP:115375214
Gene SymbolCHRNA1
Gene SynonymACHRA; ACHRD; CHRNA; CMS2A; FCCMS; SCCMS
Chromosome2
Locus Map2q31.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000079 Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 2, mRNA. Full Length $585.51
ORF Sequence $398.46
NM_001039523 Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA. Full Length $607.26
ORF Sequence $420.21
Title Myasthenic syndrome AChRalpha C-loop mutant disrupts initiation of channel gating .
Author Shen,X.M., Brengman,J.M., Sine,S.M. and Engel,A.G.
Journal J. Clin. Invest. 122 (7), 2613-2621 (2012)
Title Nicotinic acetylcholine receptor alpha1 promotes calpain-1 activation and macrophage inflammation in hypercholesterolemic nephropathy .
Author Zhang,G., Thomas,A.L., Marshall,A.L., Kernan,K.A., Su,Y., Zheng,Y., Takano,J., Saido,T.C. and Eddy,A.A.
Journal Lab. Invest. 91 (1), 106-123 (2011)
Title Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study .
Author Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
Journal Diabetes Care 33 (10), 2250-2253 (2010)
Title Human variation in alcohol response is influenced by variation in neuronal signaling genes .
Author Joslyn,G., Ravindranathan,A., Brush,G., Schuckit,M. and White,R.L.
Journal Alcohol. Clin. Exp. Res. 34 (5), 800-812 (2010)
Title Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip .
Author Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
Journal Am. J. Hum. Genet. 85 (5), 628-642 (2009)
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)
Title 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 .
Author Beeson,D., Jeremiah,S., West,L.F., Povey,S. and Newsom-Davis,J.
Journal Ann. Hum. Genet. 54 (PT 3), 199-208 (1990)
Title The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon .
Author Beeson,D., Morris,A., Vincent,A. and Newsom-Davis,J.
Journal EMBO J. 9 (7), 2101-2106 (1990)
Title Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravis .
Author Hohlfeld,R., Toyka,K.V., Miner,L.L., Walgrave,S.L. and Conti-Tronconi,B.M.
Journal J. Clin. Invest. 81 (3), 657-660 (1988)
Title The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA .
Author Schoepfer,R., Luther,M. and Lindstrom,J.
Journal FEBS Lett. 226 (2), 235-240 (1988)

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