Homo sapiens gelsolin (GSN), transcript variant 6, mRNA.
| RefSeq Version | NM_001127665.1, 189083777 |
| Length | 2759 bp |
| Structure | linear |
| Update Date | 11-MAR-2011 |
| 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]. 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, 4, 5, and 6 all encode isoform b. |
| RefSeq | NP_001121137.1 |
| CDS | 295..2490 | Exon (1) | 1..118 | Exon (2) | 1..118 | Exon (3) | 119..211 | Exon (4) | 212..285 | Exon (5) | 286..490 | Exon (6) | 491..645 | Exon (7) | 646..807 | Exon (8) | 808..957 | Exon (9) | 958..1047 | Exon (10) | 1048..1180 | Exon (11) | 1181..1269 | Exon (12) | 1270..1485 | Exon (13) | 1486..1619 | Exon (14) | 1620..1710 | Exon (15) | 1711..1881 | Exon (16) | 1882..2056 | Exon (17) | 2057..2181 | Exon (18) | 2182..2259 | Exon (19) | 2260..2320 | Exon (20) | 2321..2729 |
| Translation | MVVEHPEFLKAGKEPGLQIWRVEKFDLVPVPTNLYGDFFTGDAYVILKTVQLRNGNLQYD
LHYWLGNECSQDESGAAAIFTVQLDDYLNGRAVQHREVQGFESATFLGYFKSGLKYKKGG
VASGFKHVVPNEVVVQRLFQVKGRRVVRATEVPVSWESFNNGDCFILDLGNNIHQWCGSN
SNRYERLKATQVSKGIRDNERSGRARVHVSEEGTEPEAMLQVLGPKPALPAGTEDTAKED
AANRKLAKLYKVSNGAGTMSVSLVADENPFAQGALKSEDCFILDHGKDGKIFVWKGKQAN
TEERKAALKTASDFITKMDYPKQTQVSVLPEGGETPLFKQFFKNWRDPDQTDGLGLSYLS
SHIANVERVPFDAATLHTSTAMAAQHGMDDDGTGQKQIWRIEGSNKVPVDPATYGQFYGG
DSYIILYNYRHGGRQGQIIYNWQGAQSTQDEVAASAILTAQLDEELGGTPVQSRVVQGKE
PAHLMSLFGGKPMIIYKGGTSREGGQTAPASTRLFQVRANSAGATRAVEVLPKAGALNSN
DAFVLKTPSAAYLWVGTGASEAEKTGAQELLRVLRAQPVQVAEGSEPDGFWEALGGKAAY
RTSPRLKDKKMDAHPPRLFACSNKIGRFVIEEVPGELMQEDLATDDVMLLDTWDQVFVWV
GKDSQEEEKTEALTSAKRYIETDPANRDRRTPITVVKQGFEPPSFVGWFLGWDDDYWSVD
PLDRAMAELAA
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| Position | Chain | Variation | Link |
| 158 | + | c, g | dbSNP:79095564 |
| 165 | + | g, t | dbSNP:11550200 |
| 323 | + | a, g | dbSNP:115224458 |
| 521 | + | c, t | dbSNP:79630438 |
| 526 | + | a, g | dbSNP:2230287 |
| 537 | + | c, t | dbSNP:116956127 |
| 676 | + | a, g | dbSNP:41305623 |
| 781 | + | a, g | dbSNP:121909715 |
| 781 | + | g, t | dbSNP:121909716 |
| 832 | + | a, g | dbSNP:11550199 |
| 1048 | + | a, g | dbSNP:113759985 |
| 1372 | + | c, t | dbSNP:75508371 |
| 1515 | + | a, g | dbSNP:111273576 |
| 1554 | + | c, t | dbSNP:2304393 |
| 1582 | + | c, t | dbSNP:116185403 |
| 1807 | + | a, g | dbSNP:58750568 |
| 1829 | + | c, g | dbSNP:77681311 |
| 1974 | + | c, t | dbSNP:73660439 |
| 1988 | + | c, t | dbSNP:76463933 |
| 2144 | + | g, t | dbSNP:9696578 |
| 2409 | + | c, t | dbSNP:9102 |
| 2552 | + | a, g | dbSNP:1051142 |
| 2578 | + | c, t | dbSNP:1051174 |
| 2607..2608 | + | , gtgt | dbSNP:71694034 |
| 2608 | + | g, t | dbSNP:117065634 |
| complement(2612) | - | g, c | dbSNP:15034 |
| 2614 | + | , t, tt | dbSNP:66991108 |
| 2616 | + | , t | dbSNP:71811849 |
| 2617 | + | , t | dbSNP:71688305 |
| 2618..2619 | + | , ttt | dbSNP:71739017 |
| 2618 | + | , t | dbSNP:71663525 |
| 2619..2620 | + | , t | dbSNP:71732172 |
| 2626 | + | , t, tt | dbSNP:71680051 |
| 2627..2628 | + | , tttt | dbSNP:71659520 |
| 2630 | + | g, t | dbSNP:73660440 |
| complement(2632) | - | t, a | dbSNP:11550202 |
| 2658..2659 | + | , ag | dbSNP:71695753 |
| 2677 | + | c, t | dbSNP:1051286 |
| Gene Symbol | GSN |
| Gene Synonym | DKFZp313L0718 |
| Chromosome | 9 |
| Locus Map | 9q33 |
| All Transcripts | NM_001127665 , NM_001127663 , NM_001127666 , NM_001127662 , NM_001127664 , NM_001127667 , NM_198252 , NM_000177 |
| Title | Role and regulation of sperm gelsolin prior to fertilization . |
| Author | Finkelstein,M., Etkovitz,N. and Breitbart,H. |
| Journal | J. Biol. Chem. 285 (51), 39702-39709 (2010) |
| Title | Plasma gelsolin modulates cellular response to sphingosine 1-phosphate . |
| Author | Bucki,R., Kulakowska,A., Byfield,F.J., Zendzian-Piotrowska,M., Baranowski,M., Marzec,M., Winer,J.P., Ciccarelli,N.J., Gorski,J., Drozdowski,W., Bittman,R. and Janmey,P.A. |
| Journal | Am. J. Physiol., Cell Physiol. 299 (6), C1516-C1523 (2010) |
| Title | Mass spectrometric characterization of gelsolin isoforms . |
| Author | Pottiez,G., Haverland,N. and Ciborowski,P. |
| Journal | Rapid Commun. Mass Spectrom. 24 (17), 2620-2624 (2010) |
| Title | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score . |
| Author | Rose,J.E., Behm,F.M., Drgon,T., Johnson,C. and Uhl,G.R. |
| Journal | Mol. Med. 16 (7-8), 247-253 (2010) |
| Title | The potential role of plasma gelsolin in dialysis-related protein-energy wasting . |
| Author | Lee,P.S., Bhan,I. and Thadhani,R. |
| Journal | Blood Purif. 29 (2), 99-101 (2010) |
| 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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