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Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_144573 Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA. ORF Sequence $588.12
Peptide Services
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RefSeq Version NM_144573.3, 148839338
Length 3405 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.
Product nexilin isoform 1
Comment

Summary: This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010].


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


##Evidence-Data-START## Transcript exon combination :: DQ464902.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_653174.3
CDS 298..2325
Misc Feature(1)145..147
Misc Feature(2)145..147
Misc Feature(3)535..537
Misc Feature(4)535..537
Misc Feature(5)1018..1020
Misc Feature(6)1366..1368
Misc Feature(7)1390..1392
Misc Feature(8)1405..1407
Misc Feature(9)2041..2310
Misc Feature(10)2092..2295
Exon (1)1..245
Gene:NEXN
Gene Synonym:CMH20; NELIN
Exon (2)246..324
Gene:NEXN
Gene Synonym:CMH20; NELIN
Exon (3)325..516
Gene:NEXN
Gene Synonym:CMH20; NELIN
Exon (4)517..595
Gene:NEXN
Gene Synonym:CMH20; NELIN
Exon (5)596..744
Gene:NEXN
Gene Synonym:CMH20; NELIN
Exon (6)745..786
Gene:NEXN
Gene Synonym:CMH20; NELIN
Exon (7)787..984
Gene:NEXN
Gene Synonym:CMH20; NELIN
Exon (8)985..1161
Gene:NEXN
Gene Synonym:CMH20; NELIN
Exon (9)1162..1350
Gene:NEXN
Gene Synonym:CMH20; NELIN
Exon (10)1351..1548
Gene:NEXN
Gene Synonym:CMH20; NELIN
Exon (11)1549..1770
Gene:NEXN
Gene Synonym:CMH20; NELIN
Exon (12)1771..1956
Gene:NEXN
Gene Synonym:CMH20; NELIN
Exon (13)1957..3391
Gene:NEXN
Gene Synonym:CMH20; NELIN
Translation MNDISQKAEILLSSSKPVPKTYVPKLGKGDVKDKFEAMQRAREERNQRRSRDEKQRRKEQ YIREREWNRRKQEIKEMLASDDEEDVSSKVEKAYVPKLTGTVKGRFAEMEKQRQEEQRKR TEEERKRRIEQDMLEKRKIQRELAKRAEQIEDINNTGTESASEEGDDSLLITVVPVKSYK TSGKMKKNFEDLEKEREEKERIKYEEDKRIRYEEQRPSLKEAKCLSLVMDDEIESEAKKE SLSPGKLKLTFEELERQRQENRKKQAEEEARKRLEEEKRAFEEARRQMVNEDEENQDTAK IFKGYRPGKLKLSFEEMERQRREDEKRKAEEEARRRIEEEKKAFAEARRNMVVDDDSPEM YKTISQEFLTPGKLEINFEELLKQKMEEEKRRTEEERKHKLEMEKQEFEQLRQEMGEEEE ENETFGLSREYEELIKLKRSGSIQAKNLKSKFEKIGQLSEKEIQKKIEEERARRRAIDLE IKEREAENFHEEDDVDVRPARKSEAPFTHKVNMKARFEQMAKAREEEEQRRIEEQKLLRM QFEQREIDAALQKKREEEEEEEGSIMNGSTAEDEEQTRSGAPWFKKPLKNTSVVDSEPVR FTVKVTGEPKPEITWWFEGEILQDGEDYQYIERGETYCLYLPETFPEDGGEYMCKAVNNK GSAASTCILTIESKN
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Position Chain Variation Link
147+a, gdbSNP:143719925
352+dbSNP:
352+c, tdbSNP:199981645
403+a, gdbSNP:200345240
474+a, cdbSNP:35330151
541+dbSNP:
541+c, gdbSNP:199720912
632+dbSNP:
632+a, cdbSNP:2764942
660+c, tdbSNP:35117963
765+dbSNP:
765+a, gdbSNP:199988442
910+dbSNP:
910+a, gdbSNP:201447781
1029+dbSNP:
1029+a, cdbSNP:201171783
1030+a, gdbSNP:1166698
1132+c, tdbSNP:146245480
1153+c, tdbSNP:199917913
1190+dbSNP:
1190+c, gdbSNP:200753280
1208+g, tdbSNP:41305640
1257+a, cdbSNP:74869315
1292+a, cdbSNP:201763096
1301+a, gdbSNP:9660322
1368..1369+dbSNP:
1368..1369+, tttdbSNP:201565436
1409+c, tdbSNP:200067011
1468+c, tdbSNP:200106758
1487+a, gdbSNP:201806320
1568+dbSNP:
1568+c, gdbSNP:200442502
1613+a, gdbSNP:200002561
1705+c, gdbSNP:35366555
1716+a, gdbSNP:140900323
1732+c, tdbSNP:181520023
1879+dbSNP:
1879+c, gdbSNP:200071700
1915+a, gdbSNP:201390657
2082+dbSNP:
2082+c, tdbSNP:182998780
2085+g, tdbSNP:199738750
2119+a, gdbSNP:201427461
2125+, adbSNP:34608314
2128+a, cdbSNP:137853198
2252+a, gdbSNP:137853197
2315+c, gdbSNP:113360299
2347+c, gdbSNP:3767028
2362+c, tdbSNP:188638636
2465+c, gdbSNP:113440015
2604+a, gdbSNP:11558429
2632+c, tdbSNP:192381641
2639+a, cdbSNP:78105746
2727+a, cdbSNP:200863346
2734..2735+, adbSNP:71750846
2739+g, tdbSNP:1359518
2742..2743+, cdbSNP:201203673
2742+a, cdbSNP:35316069
2833..2834+, adbSNP:5775432
2841+c, tdbSNP:192491251
2903+a, tdbSNP:184159947
2952+a, cdbSNP:187285779
3032..3038+, agtgttgdbSNP:145017889
3084+a, tdbSNP:192101966
3106+c, tdbSNP:143374289
3170+c, tdbSNP:115256084
3328+a, tdbSNP:112846059
3342+a, gdbSNP:184606027
3345+a, tdbSNP:150511446
3358+a, gdbSNP:139483106
Gene SymbolNEXN
Gene SynonymCMH20; NELIN
Chromosome1
Locus Map1p31.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001172309 Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 2, mRNA. Full Length $1124.55
ORF Sequence $532.44
NM_144573 Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA. Full Length $1191.75
ORF Sequence $588.12
Title Nexilin is a dynamic component of Listeria monocytogenes and enteropathogenic Escherichia coli actin-rich structures .
Author Law,H.T., Bonazzi,M., Jackson,J., Cossart,P. and Guttman,J.A.
Journal Cell. Microbiol. 14 (7), 1097-1108 (2012)
Title Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy .
Author Wang,H., Li,Z., Wang,J., Sun,K., Cui,Q., Song,L., Zou,Y., Wang,X., Liu,X., Hui,R. and Fan,Y.
Journal Am. J. Hum. Genet. 87 (5), 687-693 (2010)
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 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 Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy .
Author Hassel,D., Dahme,T., Erdmann,J., Meder,B., Huge,A., Stoll,M., Just,S., Hess,A., Ehlermann,P., Weichenhan,D., Grimmler,M., Liptau,H., Hetzer,R., Regitz-Zagrosek,V., Fischer,C., Nurnberg,P., Schunkert,H., Katus,H.A. and Rottbauer,W.
Journal Nat. Med. 15 (11), 1281-1288 (2009)
Title NELIN, a new F-actin associated protein, stimulates HeLa cell migration and adhesion .
Author Wang,W., Zhang,W., Han,Y., Chen,J., Wang,Y., Zhang,Z. and Hui,R.
Journal Biochem. Biophys. Res. Commun. 330 (4), 1127-1131 (2005)
Title Molecular Cloning of NELIN, a Putative Human Cytoskeleton Regulation Gene .
Author Zhao,Y., Wei,Y.J., Cao,H.Q. and Ding,J.F.
Journal Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao 33 (1), 19-24 (2001)
Title Nexilin: a novel actin filament-binding protein localized at cell-matrix adherens junction .
Author Ohtsuka,T., Nakanishi,H., Ikeda,W., Satoh,A., Momose,Y., Nishioka,H. and Takai,Y.
Journal J. Cell Biol. 143 (5), 1227-1238 (1998)
Title Muscle autoantigens in thyroid associated ophthalmopathy: the limits of molecular genetics .
Author Elisei,R., Weightman,D., Kendall-Taylor,P., Vassart,G. and Ludgate,M.
Journal J. Endocrinol. Invest. 16 (7), 533-540 (1993)

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