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Database:

Blast Method:

 
 


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


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu18213 Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $279.00 12-14
OHu18213C Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA. Customized vector On-demand $329.00 12-14

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_144573.3, 148839338
Length 2028 bp
Structure linear
Update Date 03-MAY-2014
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).

RefSeq NP_653174.3
CDS 298..2325
Misc Feature(1)145..147
Misc Feature(2)535..537
Misc Feature(3)535..537
Misc Feature(4)1018..1020
Misc Feature(5)1366..1368
Misc Feature(6)1390..1392
Misc Feature(7)1405..1407
Misc Feature(8)2041..2310
Misc Feature(9)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
3+dbSNP:
3+c, gdbSNP:368299868
147+a, gdbSNP:143719925
352+dbSNP:
352+c, tdbSNP:199981645
375+c, tdbSNP:376535223
403+a, gdbSNP:200345240
453+c, tdbSNP:371431782
454+a, gdbSNP:373778361
474+a, cdbSNP:35330151
524+dbSNP:
524+a, gdbSNP:368300372
539+a, tdbSNP:367871780
541+c, gdbSNP:199720912
546+a, c, gdbSNP:372532824
626+dbSNP:
626+a, gdbSNP:375653702
complement(632)-c, adbSNP:2764942
638..639+, aadbSNP:397517857
660+c, tdbSNP:35117963
667+a, gdbSNP:372745590
688+c, gdbSNP:387907079
689+a, gdbSNP:397517858
765+dbSNP:
765+a, gdbSNP:199988442
809+dbSNP:
809+c, tdbSNP:372065024
883+c, tdbSNP:369486891
884+a, gdbSNP:373982793
910+a, gdbSNP:201447781
913+a, gdbSNP:370428679
974+, cdbSNP:397517859
1029+dbSNP:
1029+a, cdbSNP:201171783
1030+a, gdbSNP:1166698
1074+a, gdbSNP:375544798
1080+c, gdbSNP:368545006
1082+a, gdbSNP:369941497
1113+a, gdbSNP:371923319
1132+c, tdbSNP:146245480
1145+a, tdbSNP:374691663
1153+c, tdbSNP:199917913
1161+g, tdbSNP:371666396
1171+dbSNP:
1171+a, gdbSNP:373377525
1189+a, gdbSNP:377374572
1190+c, gdbSNP:200753280
1199+a, tdbSNP:373878384
1208+g, tdbSNP:41305640
1257+a, cdbSNP:74869315
1265+a, gdbSNP:376358737
1292+a, cdbSNP:201763096
1301+a, gdbSNP:9660322
1326+a, gdbSNP:374260457
1362+dbSNP:
1362+c, tdbSNP:369897647
1368..1369+, tttdbSNP:201565436
1409+c, tdbSNP:200067011
1468+c, tdbSNP:200106758
1487+a, gdbSNP:201806320
1520+g, tdbSNP:367768452
1568+dbSNP:
1568+c, gdbSNP:200442502
1613+a, gdbSNP:200002561
1663+a, gdbSNP:397517844
1665+a, cdbSNP:397517845
1697+c, tdbSNP:370195451
1704..1706+, agadbSNP:397517846
1705+c, gdbSNP:35366555
1711+a, gdbSNP:373913251
1716+a, gdbSNP:140900323
1732+c, tdbSNP:181520023
1750+a, gdbSNP:368812830
1754+c, gdbSNP:397517847
1768+c, gdbSNP:373057251
1834+dbSNP:
1834+a, gdbSNP:376347342
1879+c, gdbSNP:200071700
1912+c, tdbSNP:373680705
1915+a, gdbSNP:201390657
1974..1979+dbSNP:
1974..1979+, ggaggadbSNP:397517848
1975+a, gdbSNP:377257742
1979..1980+, ggadbSNP:397517849
1994+c, tdbSNP:369894742
2001+c, tdbSNP:397517850
2028+c, gdbSNP:371743669
2030+c, gdbSNP:374878979
2053..2055+, aagdbSNP:397517851
2068+a, gdbSNP:369019618
2075+c, tdbSNP:372924196
2082+c, tdbSNP:182998780
2085+g, tdbSNP:199738750
2103+a, gdbSNP:373102543
2119+a, gdbSNP:201427461
2127+, adbSNP:34608314
2127+a, gdbSNP:376542213
2128+a, cdbSNP:137853198
2191+c, gdbSNP:370965740
2196+a, gdbSNP:374467054
2234+a, cdbSNP:397517852
2246..2248+, gagdbSNP:397517853
2252+a, gdbSNP:137853197
2273+a, gdbSNP:370310107
2293+a, gdbSNP:374000722
2315+c, gdbSNP:113360299
complement(2347)-g, cdbSNP:3767028
2362+c, tdbSNP:188638636
2465+c, gdbSNP:113440015
2604+a, gdbSNP:11558429
2632+c, tdbSNP:192381641
2639+a, cdbSNP:78105746
2671+a, gdbSNP:376549836
2702+a, gdbSNP:373462231
2727+a, cdbSNP:200863346
2727+a, cdbSNP:386439931
2734..2735+, adbSNP:368295679
complement(2739)-t, gdbSNP:1359518
2742..2743+, cdbSNP:201203673
2742+a, cdbSNP:35316069
2834..2835+, adbSNP:5775432
2841+c, tdbSNP:192491251
2894+c, tdbSNP:377468319
2903+a, tdbSNP:184159947
2952+a, cdbSNP:187285779
3032..3038+, agtgttgdbSNP:145017889
3054+a, tdbSNP:376331792
3073+c, tdbSNP:369818524
3084+a, tdbSNP:192101966
3100+a, gdbSNP:372632008
3106+c, tdbSNP:143374289
3170+c, tdbSNP:115256084
3171+a, gdbSNP:375332990
3328+a, tdbSNP:112846059
3342+a, gdbSNP:184606027
3345+a, tdbSNP:150511446
3345+a, tdbSNP:386467777
3358+a, gdbSNP:139483106
Gene SymbolNEXN
Gene SynonymCMH20; NELIN
Chromosome1
Locus Map1p31.1
Title Nexilin is a dynamic component of Listeria monocytogenes and enteropathogenic Escherichia coli actin-rich structures .
Author Law HT, Bonazzi M, Jackson J, Cossart P and Guttman JA.
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 SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC and Anand S.
Journal Diabetes Care 33 (10), 2250-2253 (2010)
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 HA 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 YJ, Cao HQ and Ding JF.
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)
Title Hypertrophic Cardiomyopathy Overview .
Author Cirino,A.L. and Ho,C.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
Title Dilated Cardiomyopathy Overview .
Author Hershberger,R.E. and Morales,A.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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