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Database:

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Homo sapiens gelsolin (GSN), transcript variant 6, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu20043 Homo sapiens gelsolin (GSN), transcript variant 6, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu20043C Homo sapiens gelsolin (GSN), transcript variant 6, mRNA. Customized vector In-stock $149.00 5-7

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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_001127665.1, 189083777
Length 2196 bp
Structure linear
Update Date 04-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens gelsolin (GSN), transcript variant 6, mRNA.
Product gelsolin isoform b
Comment

Summary: The protein encoded by this gene binds to the 'plus' ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter N-terminus compared to isoform a. Variants 2, 3, 5, and 6 all encode isoform b.

RefSeq NP_001121137.1
CDS 295..2490
Misc Feature(1)70..72
Misc Feature(2)70..72
Misc Feature(3)316..654
Misc Feature(4)316..654
Misc Feature(5)order(367..372,487..489,505..510,514..522,526..534,
Misc Feature(6)order(418..420,511..513)
Misc Feature(7)547..549
Misc Feature(8)697..966
Misc Feature(9)order(781..783,847..849)
Misc Feature(10)1024..1326
Misc Feature(11)order(1129..1131,1201..1203)
Misc Feature(12)order(1309..1311,1324..1326)
Misc Feature(13)1456..1758
Misc Feature(14)order(1504..1509,1621..1623,1639..1644,1648..1656,
Misc Feature(15)order(1555..1557,1645..1647)
Misc Feature(16)1681..1683
Misc Feature(17)1729..1731
Misc Feature(18)1822..2088
Misc Feature(19)1846..1848
Misc Feature(20)order(1912..1917,1981..1983)
Misc Feature(21)2137..2433
Misc Feature(22)order(2230..2232,2296..2298)
Exon (1)1..118
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (2)119..211
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (3)212..285
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (4)286..490
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (5)491..645
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (6)646..807
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (7)808..957
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (8)958..1047
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (9)1048..1180
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (10)1181..1269
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (11)1270..1485
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (12)1486..1619
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (13)1620..1710
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (14)1711..1881
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (15)1882..2056
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (16)2057..2181
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (17)2182..2259
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (18)2260..2320
Gene:GSN
Gene Synonym:ADF; AGEL
Exon (19)2321..2729
Gene:GSN
Gene Synonym:ADF; AGEL
Translation MVVEHPEFLKAGKEPGLQIWRVEKFDLVPVPTNLYGDFFTGDAYVILKTVQLRNGNLQYD LHYWLGNECSQDESGAAAIFTVQLDDYLNGRAVQHREVQGFESATFLGYFKSGLKYKKGG VASGFKHVVPNEVVVQRLFQVKGRRVVRATEVPVSWESFNNGDCFILDLGNNIHQWCGSN SNRYERLKATQVSKGIRDNERSGRARVHVSEEGTEPEAMLQVLGPKPALPAGTEDTAKED AANRKLAKLYKVSNGAGTMSVSLVADENPFAQGALKSEDCFILDHGKDGKIFVWKGKQAN TEERKAALKTASDFITKMDYPKQTQVSVLPEGGETPLFKQFFKNWRDPDQTDGLGLSYLS SHIANVERVPFDAATLHTSTAMAAQHGMDDDGTGQKQIWRIEGSNKVPVDPATYGQFYGG DSYIILYNYRHGGRQGQIIYNWQGAQSTQDEVAASAILTAQLDEELGGTPVQSRVVQGKE PAHLMSLFGGKPMIIYKGGTSREGGQTAPASTRLFQVRANSAGATRAVEVLPKAGALNSN DAFVLKTPSAAYLWVGTGASEAEKTGAQELLRVLRAQPVQVAEGSEPDGFWEALGGKAAY RTSPRLKDKKMDAHPPRLFACSNKIGRFVIEEVPGELMQEDLATDDVMLLDTWDQVFVWV GKDSQEEEKTEALTSAKRYIETDPANRDRRTPITVVKQGFEPPSFVGWFLGWDDDYWSVD PLDRAMAELAA
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Position Chain Variation Link
129+dbSNP:
129+c, tdbSNP:151083385
165+g, tdbSNP:11550200
288+dbSNP:
288+c, tdbSNP:150353588
301+g, tdbSNP:138068754
313+a, gdbSNP:143781307
323+a, gdbSNP:115224458
355+c, tdbSNP:373791435
369+c, gdbSNP:149415778
380+c, tdbSNP:149556868
382+a, gdbSNP:376961112
384+g, tdbSNP:201642174
393+c, tdbSNP:370368742
404+a, cdbSNP:144219139
411+c, tdbSNP:374052802
420+c, tdbSNP:200027070
421+g, tdbSNP:148748121
426+c, tdbSNP:368210196
427+a, gdbSNP:142305374
450+a, gdbSNP:201102347
452+, gdbSNP:368868605
456+c, tdbSNP:146365204
474+c, tdbSNP:139689268
480+c, tdbSNP:144551136
495+dbSNP:
495+c, tdbSNP:373229223
516+c, tdbSNP:376627635
517+a, gdbSNP:369305328
519+a, gdbSNP:371165744
521+c, tdbSNP:79630438
525+a, cdbSNP:140734150
526+a, gdbSNP:2230287
535+a, gdbSNP:145441439
537+c, tdbSNP:116956127
565+c, tdbSNP:146956976
566+g, tdbSNP:138153246
579+c, tdbSNP:142155964
581+a, gdbSNP:201920706
597+c, tdbSNP:373779982
616+a, gdbSNP:367933536
675+dbSNP:
675+c, tdbSNP:180689280
676+a, gdbSNP:41305623
687+c, tdbSNP:186654124
691+a, gdbSNP:368197143
714+a, gdbSNP:143628574
724+c, tdbSNP:138951454
725+a, gdbSNP:144099356
728+a, gdbSNP:141314418
737+a, gdbSNP:150617780
781+a, g, tdbSNP:121909715
832+dbSNP:
832+a, gdbSNP:11550199
841+c, tdbSNP:371175865
842+a, gdbSNP:375589943
891+c, tdbSNP:146329975
910+c, tdbSNP:376060588
925+c, gdbSNP:369788495
932+a, gdbSNP:371320840
953+g, tdbSNP:374011467
974+dbSNP:
974+c, tdbSNP:202067009
983+c, tdbSNP:139723535
1003+a, gdbSNP:376744130
1015+g, tdbSNP:150568054
1016+c, tdbSNP:144375242
1017+a, gdbSNP:377624593
1024+c, tdbSNP:188214536
1030+c, tdbSNP:146112795
1046+a, gdbSNP:148800857
1048+dbSNP:
1048+a, gdbSNP:113759985
1074+c, tdbSNP:201395524
1135+c, tdbSNP:142435036
1149+c, tdbSNP:374571846
1150+a, gdbSNP:151155909
1222..1223+dbSNP:
1222..1223+, ac, cdbSNP:148582809
1241+a, c, tdbSNP:139028645
1275+dbSNP:
1275+c, gdbSNP:145170518
1331+a, gdbSNP:372681751
1338+a, gdbSNP:377247829
1341+c, tdbSNP:367632035
1372+c, tdbSNP:75508371
1376+a, gdbSNP:370764119
1390+a, gdbSNP:375323203
1392+a, gdbSNP:201325199
1395+a, gdbSNP:371171301
1407+c, tdbSNP:200399610
1408+a, gdbSNP:200018246
1438+a, gdbSNP:376180600
1452+c, tdbSNP:201365952
1453+a, gdbSNP:372218880
1464+c, tdbSNP:147583697
1465+a, gdbSNP:142034230
1474+a, gdbSNP:376488491
1484+a, gdbSNP:368537807
1494+dbSNP:
1494+a, gdbSNP:371836872
1497+c, tdbSNP:202240818
1498+a, gdbSNP:368079865
1515+a, gdbSNP:111273576
1519+a, gdbSNP:140042418
1533+a, gdbSNP:149375418
1547+a, gdbSNP:375227932
1554+c, tdbSNP:2304393
1582+c, tdbSNP:116185403
1589+a, gdbSNP:148309276
1594+c, tdbSNP:368923816
1644+dbSNP:
1644+a, tdbSNP:141406100
1693+a, gdbSNP:145721476
1711+dbSNP:
1711+a, gdbSNP:370997492
1714+c, tdbSNP:138341672
1715+a, gdbSNP:142828669
1737+c, tdbSNP:200156774
1738+a, gdbSNP:375902120
1759+c, gdbSNP:146125870
1779+c, tdbSNP:374982895
1781+a, gdbSNP:139832048
1800+c, tdbSNP:199681748
1807+a, gdbSNP:58750568
1829+c, gdbSNP:77681311
1832+a, gdbSNP:148410442
1848+c, tdbSNP:145051977
1849+a, gdbSNP:147554026
1857+c, tdbSNP:140414249
1888+dbSNP:
1888+a, cdbSNP:371993530
1931+a, gdbSNP:184844415
1934+c, tdbSNP:376326631
1940+c, tdbSNP:201307081
1956+a, gdbSNP:144259173
1957+a, gdbSNP:151208452
1959+a, gdbSNP:374022157
1974+c, tdbSNP:73660439
1984+a, gdbSNP:368207411
1988+c, tdbSNP:76463933
1995+c, tdbSNP:369846947
2076+dbSNP:
2076+a, gdbSNP:139239940
2079+c, tdbSNP:145066574
2080+a, gdbSNP:141082919
2108+a, gdbSNP:200319453
2144+a, cdbSNP:386471307
2144+g, tdbSNP:9696578
2173+c, tdbSNP:371328761
2225+dbSNP:
2225+c, tdbSNP:144434647
2251+a, tdbSNP:186351262
2254+c, gdbSNP:377710586
2271+dbSNP:
2271+g, tdbSNP:201752493
2339+dbSNP:
2339+c, tdbSNP:142854368
2350+a, gdbSNP:375881478
2351+a, gdbSNP:143285592
2359+c, tdbSNP:148360076
2363+a, gdbSNP:141510612
2376+c, tdbSNP:368986042
2409+c, tdbSNP:9102
2410+a, gdbSNP:139420096
2517+c, tdbSNP:371549019
2518+a, gdbSNP:376801564
2552+a, gdbSNP:1051142
2563+a, gdbSNP:374518331
2564+c, tdbSNP:143181937
2578+c, tdbSNP:1051174
2586..2587+, gtgtdbSNP:147410423
2587..2588+, gtgtdbSNP:372955427
complement(2612)-g, cdbSNP:15034
2625..2626+, ttdbSNP:71680051
2626..2627+, tdbSNP:377469209
2630+g, tdbSNP:73660440
complement(2632)-t, adbSNP:11550202
2677+c, tdbSNP:1051286
Gene SymbolGSN
Gene SynonymADF; AGEL
Chromosome9
Locus Map9q33
Title Formation of gelsolin amyloid fibrils in the rough endoplasmic reticulum of skeletal muscle in the gelsolin mouse model of inclusion body myositis: comparative analysis to human sporadic inclusion body myositis .
Author Bannykh SI, Balch WE, Kelly JW, Page LJ and Shelton GD.
Journal Ultrastruct Pathol 37 (5), 304-311 (2013)
Title ATF3 suppresses metastasis of bladder cancer by regulating gelsolin-mediated remodeling of the actin cytoskeleton .
Author Yuan X, Yu L, Li J, Xie G, Rong T, Zhang L, Chen J, Meng Q, Irving AT, Wang D, Williams ED, Liu JP, Sadler AJ, Williams BR, Shen L and Xu D.
Journal Cancer Res. 73 (12), 3625-3637 (2013)
Title Gelsolin activity controls efficient early HIV-1 infection .
Author Garcia-Exposito L, Ziglio S, Barroso-Gonzalez J, de Armas-Rillo L, Valera MS, Zipeto D, Machado JD and Valenzuela-Fernandez A.
Journal Retrovirology 10, 39 (2013)
Title Identification of novel autoantigen in the synovial fluid of rheumatoid arthritis patients using an immunoproteomics approach .
Author Biswas S, Sharma S, Saroha A, Bhakuni DS, Malhotra R, Zahur M, Oellerich M, Das HR and Asif AR.
Journal PLoS ONE 8 (2), E56246 (2013)
Title Mutational spectrum of Gelsolin and its down regulation is associated with breast cancer .
Author Baig RM, Mahjabeen I, Sabir M, Masood N, Ali K, Malik FA and Kayani MA.
Journal Dis. Markers 34 (2), 71-80 (2013)
Title Gelsolin-derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187 .
Author de la Chapelle A, Tolvanen R, Boysen G, Santavy J, Bleeker-Wagemakers L, Maury CP and Kere J.
Journal Nat. Genet. 2 (2), 157-160 (1992)
Title Identification of a polyphosphoinositide-binding sequence in an actin monomer-binding domain of gelsolin .
Author Yu FX, Sun HQ, Janmey PA and Yin HL.
Journal J. Biol. Chem. 267 (21), 14616-14621 (1992)
Title Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family .
Author de la Chapelle A, Kere J, Sack GH Jr, Tolvanen R and Maury CP.
Journal Genomics 13 (3), 898-901 (1992)
Title Solid-phase minisequencing test reveals Asp187----Asn (G654----A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis .
Author Paunio T, Kiuru S, Hongell V, Mustonen E, Syvanen AC, Bengstrom M, Palo J and Peltonen L.
Journal Genomics 13 (1), 237-239 (1992)
Title Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay .
Author Haltia M, Levy E, Meretoja J, Fernandez-Madrid I, Koivunen O and Frangione B.
Journal Am. J. Med. Genet. 42 (3), 357-359 (1992)

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