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Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.


RefSeq Accession Definition Sequence Price Select
NM_004960 Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA. Full Lenth $2303.55
ORF Sequence $458.49


RefSeq Version NM_004960.3, 270265814
Length 5119 bp
Structure linear
Update Date 01-MAY-2011
Organism Homo sapiens (human)
Definition Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.
Product RNA-binding protein FUS isoform 1
Comment

Summary: This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in amyotrophic lateral sclerosis type 6. [provided by RefSeq].


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


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_004951.1
CDS 106..1686
Exon (1)1..118
Exon (2)1..118
Exon (3)119..143
Exon (4)144..295
Exon (5)296..440
Exon (6)441..628
Exon (7)629..869
Exon (8)870..904
Exon (9)905..937
Exon (10)938..1041
Exon (11)1042..1171
Exon (12)1172..1273
Exon (13)1274..1397
Exon (14)1398..1498
Exon (15)1499..1646
Exon (16)1647..5119
Translation MASNDYTQQATQSYGAYPTQPGQGYSQQSSQPYGQQSYSGYSQSTDTSGYGQSSYSSYGQ SQNTGYGTQSTPQGYGSTGGYGSSQSSQSSYGQQSSYPGYGQQPAPSSTSGSYGSSSQSS SYGQPQSGSYSQQPSYGGQQQSYGQQQSYNPPQGYGQQNQYNSSSGGGGGGGGGGNYGQD QSSMSSGGGSGGGYGNQDQSGGGGSGGYGQQDRGGRGRGGSGGGGGGGGGGYNRSSGGYE PRGRGGGRGGRGGMGGSDRGGFNKFGGPRDQGSRHDSEQDNSDNNTIFVQGLGENVTIES VADYFKQIGIIKTNKKTGQPMINLYTDRETGKLKGEATVSFDDPPSAKAAIDWFDGKEFS GNPIKVSFATRRADFNRGGGNGRGGRGRGGPMGRGGYGGGGSGGGGRGGFPSGGGGGGGQ QRAGDWKCPNPTCENMNFSWRNECNQCKAPKPDGPGGGPGGSHMGGNYGDDRRGGRGGYD RGGYRGRGGDRGGFRGGRGGGDRGGFGPGKMDSRGEHRQDRRERPY
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Position Chain Variation Link
complement(52)-t, cdbSNP:929867
59+a, gdbSNP:72550864
67+a, gdbSNP:67676356
202+c, tdbSNP:17852338
237+c, tdbSNP:72550883
249+a, gdbSNP:80060438
252+a, cdbSNP:741810
258+c, tdbSNP:61733962
275+c, tdbSNP:12446646
378+c, tdbSNP:73530286
396+c, tdbSNP:1052352
509+a, gdbSNP:61732970
606+g, tdbSNP:78117286
609+a, gdbSNP:77121930
635+a, gdbSNP:113216743
complement(681)-g, adbSNP:3764325
750+a, cdbSNP:113554011
771+c, tdbSNP:61732969
775..777+(ggc)5, 6, 7dbSNP:72550890
777+c, gdbSNP:117433567
complement(1076..1077)-, adbSNP:34752278
1172..1174+, largedeletiondbSNP:71704929
1261+a, cdbSNP:61733965
1293+c, gdbSNP:41292384
1300+g, tdbSNP:41292386
1302+g, tdbSNP:76570520
1359+a, gdbSNP:115712500
complement(1502)-, cdbSNP:35711706
1547+a, gdbSNP:111705357
1551+c, tdbSNP:112061837
complement(1589)-t, cdbSNP:11557276
1613+a, gdbSNP:10684
1635+a, gdbSNP:1132415
1647+, largedeletiondbSNP:67666919
1656+c, gdbSNP:121909667
1658+a, gdbSNP:121909669
1666+c, gdbSNP:121909668
1666+c, tdbSNP:121909670
1667+a, gdbSNP:121909671
complement(1727)-t, g, cdbSNP:80301724
2100+a, tdbSNP:80269012
2177+g, tdbSNP:73530293
2312+a, gdbSNP:115626460
2456+c, gdbSNP:4889537
complement(2497)-, adbSNP:35061472
2596+c, tdbSNP:118018900
2675+c, tdbSNP:114772555
2827+g, tdbSNP:78142460
3106+c, tdbSNP:73530295
3162+c, tdbSNP:11860134
3489+c, tdbSNP:16956408
complement(3492..3493)-, gdbSNP:35444115
3511+a, cdbSNP:12922585
3513+a, cdbSNP:12922587
3620+g, tdbSNP:75995175
4079+a, tdbSNP:76794525
4172+a, gdbSNP:73530298
4364+a, gdbSNP:116513340
4371+c, tdbSNP:71389498
4480+c, gdbSNP:17839571
4558+g, tdbSNP:77728373
4674+c, tdbSNP:73530301
4707+a, tdbSNP:78368537
4709+a, tdbSNP:75091214
complement(4860)-c, adbSNP:3764324
5073+a, cdbSNP:76212954
Gene SymbolFUS
Gene SynonymALS6; FUS1; HNRNPP2; POMP75; TLS
Chromosome16
Locus Map16p11.2
All Transcripts NM_004960 , NM_001170937 , NM_001170634
Title The spectrum and severity of FUS-immunoreactive inclusions in the frontal and temporal lobes of ten cases of neuronal intermediate filament inclusion disease .
Author Armstrong,R.A., Gearing,M., Bigio,E.H., Cruz-Sanchez,F.F., Duyckaerts,C., Mackenzie,I.R., Perry,R.H., Skullerud,K., Yokoo,H. and Cairns,N.J.
Journal Acta Neuropathol. 121 (2), 219-228 (2011)
Title TLS and PRMT1 synergistically coactivate transcription at the survivin promoter through TLS arginine methylation .
Author Du,K., Arai,S., Kawamura,T., Matsushita,A. and Kurokawa,R.
Journal Biochem. Biophys. Res. Commun. 404 (4), 991-996 (2011)
Title Amyotrophic lateral sclerosis-associated proteins TDP-43 and FUS/TLS function in a common biochemical complex to co-regulate HDAC6 mRNA .
Author Kim,S.H., Shanware,N.P., Bowler,M.J. and Tibbetts,R.S.
Journal J. Biol. Chem. 285 (44), 34097-34105 (2010)
Title TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia .
Author Mackenzie,I.R., Rademakers,R. and Neumann,M.
Journal Lancet Neurol 9 (10), 995-1007 (2010)
Title Kinome profiling of myxoid liposarcoma reveals NF-kappaB-pathway kinase activity and casein kinase II inhibition as a potential treatment option .
Author Willems,S.M., Schrage,Y.M., Bruijn,I.H., Szuhai,K., Hogendoorn,P.C. and Bovee,J.V.
Journal Mol. Cancer 9, 257 (2010)
Title Characterization of the CHOP breakpoints and fusion transcripts in myxoid liposarcomas with the 12;16 translocation .
Author Panagopoulos,I., Mandahl,N., Ron,D., Hoglund,M., Nilbert,M., Mertens,F., Mitelman,F. and Aman,P.
Journal Cancer Res. 54 (24), 6500-6503 (1994)
Title An RNA-binding protein gene, TLS/FUS, is fused to ERG in human myeloid leukemia with t(16;21) chromosomal translocation .
Author Ichikawa,H., Shimizu,K., Hayashi,Y. and Ohki,M.
Journal Cancer Res. 54 (11), 2865-2868 (1994)
Title Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma .
Author Crozat,A., Aman,P., Mandahl,N. and Ron,D.
Journal Nature 363 (6430), 640-644 (1993)
Title Fusion of the dominant negative transcription regulator CHOP with a novel gene FUS by translocation t(12;16) in malignant liposarcoma .
Author Rabbitts,T.H., Forster,A., Larson,R. and Nathan,P.
Journal Nat. Genet. 4 (2), 175-180 (1993)
Title Localization of the chromosomal breakpoints of the t(12;16) in liposarcoma to subbands 12q13.3 and 16p11.2 .
Author Eneroth,M., Mandahl,N., Heim,S., Willen,H., Rydholm,A., Alberts,K.A. and Mitelman,F.
Journal Cancer Genet. Cytogenet. 48 (1), 101-107 (1990)

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