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Database:

Blast Method:

 
 


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


RefSeq Accession Definition Services Price Order
NM_001127665 Homo sapiens gelsolin (GSN), transcript variant 6, mRNA. ORF Sequence $636.84
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RefSeq Version NM_001127665.1, 189083777
Length 2759 bp
Structure linear
Update Date 17-APR-2013
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
369+c, gdbSNP:149415778
380+c, tdbSNP:149556868
384+g, tdbSNP:201642174
404+a, cdbSNP:144219139
420+c, tdbSNP:200027070
421+g, tdbSNP:148748121
427+a, gdbSNP:142305374
450+a, gdbSNP:201102347
456+c, tdbSNP:146365204
474+c, tdbSNP:139689268
480+c, tdbSNP:144551136
521+dbSNP:
521+c, tdbSNP:79630438
525+c, tdbSNP: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
675+dbSNP:
675+c, tdbSNP:180689280
676+a, gdbSNP:41305623
687+c, tdbSNP:186654124
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
891+c, tdbSNP:146329975
974+dbSNP:
974+c, tdbSNP:202067009
983+c, tdbSNP:139723535
1015+g, tdbSNP:150568054
1016+c, tdbSNP:144375242
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
1150+a, gdbSNP:151155909
1222..1223+dbSNP:
1222..1223+, cdbSNP:148582809
1241+a, c, tdbSNP:139028645
1275+dbSNP:
1275+c, gdbSNP:145170518
1372+c, tdbSNP:75508371
1392+a, gdbSNP:201325199
1407+c, tdbSNP:200399610
1408+a, gdbSNP:200018246
1452+c, tdbSNP:201365952
1464+c, tdbSNP:147583697
1465+a, gdbSNP:142034230
1497+dbSNP:
1497+c, tdbSNP:202240818
1515+a, gdbSNP:111273576
1519+a, gdbSNP:140042418
1533+a, gdbSNP:149375418
1554+c, tdbSNP:2304393
1582+c, tdbSNP:116185403
1589+a, gdbSNP:148309276
1644+dbSNP:
1644+a, tdbSNP:141406100
1693+a, gdbSNP:145721476
1714+dbSNP:
1714+c, tdbSNP:138341672
1715+a, gdbSNP:142828669
1737+c, tdbSNP:200156774
1759+c, gdbSNP:146125870
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
1931+dbSNP:
1931+a, gdbSNP:184844415
1940+c, tdbSNP:201307081
1956+a, gdbSNP:144259173
1957+a, gdbSNP:151208452
1974+c, tdbSNP:73660439
1988+c, tdbSNP:76463933
2076+dbSNP:
2076+a, gdbSNP:139239940
2079+c, tdbSNP:145066574
2080+a, gdbSNP:141082919
2108+a, gdbSNP:200319453
2144+g, tdbSNP:9696578
2225+dbSNP:
2225+c, tdbSNP:144434647
2251+a, tdbSNP:186351262
2271+dbSNP:
2271+g, tdbSNP:201752493
2339+dbSNP:
2339+c, tdbSNP:142854368
2351+a, gdbSNP:143285592
2359+c, tdbSNP:148360076
2363+a, gdbSNP:141510612
2409+c, tdbSNP:9102
2410+a, gdbSNP:139420096
2552+a, gdbSNP:1051142
2564+c, tdbSNP:143181937
2578+c, tdbSNP:1051174
2586..2587+, gtgtdbSNP:147410423
2587..2588+, gtgtdbSNP:71694034
2612+c, gdbSNP:15034
2613..2614+, ttttdbSNP:71659520
2613+, tdbSNP:71663525
2614+, t, ttdbSNP:66991108
2626+, t, ttdbSNP:71680051
2630+g, tdbSNP:73660440
2632+a, tdbSNP:11550202
2658..2659+, agdbSNP:71695753
2677+c, tdbSNP:1051286
Gene SymbolGSN
Gene SynonymADF; AGEL
Chromosome9
Locus Map9q33
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000177 Homo sapiens gelsolin (GSN), transcript variant 1, mRNA. Full Length $788.51
ORF Sequence $681.21
NM_001127662 Homo sapiens gelsolin (GSN), transcript variant 3, mRNA. Full Length $751.68
ORF Sequence $636.84
NM_001127663 Homo sapiens gelsolin (GSN), transcript variant 4, mRNA. Full Length $811.13
ORF Sequence $668.16
NM_001127664 Homo sapiens gelsolin (GSN), transcript variant 5, mRNA. Full Length $801.56
ORF Sequence $636.84
NM_001127665 Homo sapiens gelsolin (GSN), transcript variant 6, mRNA. Full Length $800.11
ORF Sequence $636.84
NM_001127666 Homo sapiens gelsolin (GSN), transcript variant 7, mRNA. Full Length $799.24
ORF Sequence $646.41
NM_001127667 Homo sapiens gelsolin (GSN), transcript variant 8, mRNA. Full Length $796.63
ORF Sequence $646.41
NM_001258029 Homo sapiens gelsolin (GSN), transcript variant 9, mRNA. Full Length $747.91
ORF Sequence $651.63
NM_001258030 Homo sapiens gelsolin (GSN), transcript variant 10, mRNA. Full Length $770.24
ORF Sequence $643.80
NM_198252 Homo sapiens gelsolin (GSN), transcript variant 2, mRNA. Full Length $778.65
ORF Sequence $636.84
Title Plasma gelsolin levels in the diagnosis, prognosis, and treatment of lung complications of prematurity .
Author DiNubile,M.J.
Journal Am. J. Respir. Crit. Care Med. 186 (11), 1195-1196 (2012)
Title Overexpression of lumican affects the migration of human colon cancer cells through up-regulation of gelsolin and filamentous actin reorganization .
Author Radwanska,A., Litwin,M., Nowak,D., Baczynska,D., Wegrowski,Y., Maquart,F.X. and Malicka-Blaszkiewicz,M.
Journal Exp. Cell Res. 318 (18), 2312-2323 (2012)
Title Structural characterization and inhibitory profile of formyl peptide receptor 2 selective peptides descending from a PIP2-binding domain of gelsolin .
Author Forsman,H., Andreasson,E., Karlsson,J., Boulay,F., Rabiet,M.J. and Dahlgren,C.
Journal J. Immunol. 189 (2), 629-637 (2012)
Title N-terminal region of gelsolin induces apoptosis of activated hepatic stellate cells by a caspase-dependent mechanism .
Author Mazumdar,B., Meyer,K. and Ray,R.
Journal PLoS ONE 7 (8), E44461 (2012)
Title Gelsolin induces colorectal tumor cell invasion via modulation of the urokinase-type plasminogen activator cascade .
Author Zhuo,J., Tan,E.H., Yan,B., Tochhawng,L., Jayapal,M., Koh,S., Tay,H.K., Maciver,S.K., Hooi,S.C., Salto-Tellez,M., Kumar,A.P., Goh,Y.C., Lim,Y.C. and Yap,C.T.
Journal PLoS ONE 7 (8), E43594 (2012)
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,C.P. 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,F.X., Sun,H.Q., Janmey,P.A. and Yin,H.L.
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,G.H. Jr., Tolvanen,R. and Maury,C.P.
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,A.C., 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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