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Homo sapiens Wilms tumor 1 (WT1), transcript variant A, mRNA.


RefSeq Accession Definition Services Price Order
NM_000378 Homo sapiens Wilms tumor 1 (WT1), transcript variant A, mRNA. ORF Sequence $433.26
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RefSeq Version NM_000378.4, 309951094
Length 2977 bp
Structure linear
Update Date 29-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens Wilms tumor 1 (WT1), transcript variant A, mRNA.
Product Wilms tumor protein isoform A
Comment

Summary: This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is mutated in a small subset of patients with Wilm's tumors. This gene exhibits complex tissue-specific and polymorphic imprinting pattern, with biallelic, and monoallelic expression from the maternal and paternal alleles in different tissues. Multiple transcript variants have been described. In several variants, there is evidence for the use of a non-AUG (CUG) translation initiation site upstream of and in-frame with the first AUG. Authors of PMID:7926762 also provide evidence that WT1 mRNA undergoes RNA editing in human and rat, and that this process is tissue-restricted and developmentally regulated. [provided by RefSeq, Oct 2010].


Transcript Variant: This variant (A) lacks an alternate in-frame exon and uses an alternate, in-frame splice site in the 3' coding region, compared to variant D. This results in a shorter protein (isoform A), compared to isoform D. It initiates translation from a non-AUG (CUG) site, and also from a downstream, in-frame AUG.

RefSeq NP_000369.3
CDS 191..1684
Misc Feature(1)395..1306
Misc Feature(2)395..1306
Misc Feature(3)1358..1441
Misc Feature(4)1436..1438
Misc Feature(5)1451..1525
Misc Feature(6)1484..>1660
Misc Feature(7)1520..1522
Misc Feature(8)1532..1615
Misc Feature(9)395..397
Misc Feature(10)1185
Exon (1)1..836
Gene:WT1
Gene Synonym:AWT1; EWS-WT1; GUD; NPHS4; WAGR; WIT-2; WT33
Exon (2)837..959
Gene:WT1
Gene Synonym:AWT1; EWS-WT1; GUD; NPHS4; WAGR; WIT-2; WT33
Exon (3)960..1062
Gene:WT1
Gene Synonym:AWT1; EWS-WT1; GUD; NPHS4; WAGR; WIT-2; WT33
Exon (4)1063..1140
Gene:WT1
Gene Synonym:AWT1; EWS-WT1; GUD; NPHS4; WAGR; WIT-2; WT33
Exon (5)1141..1237
Gene:WT1
Gene Synonym:AWT1; EWS-WT1; GUD; NPHS4; WAGR; WIT-2; WT33
Exon (6)1238..1388
Gene:WT1
Gene Synonym:AWT1; EWS-WT1; GUD; NPHS4; WAGR; WIT-2; WT33
Exon (7)1389..1478
Gene:WT1
Gene Synonym:AWT1; EWS-WT1; GUD; NPHS4; WAGR; WIT-2; WT33
Exon (8)1479..1562
Gene:WT1
Gene Synonym:AWT1; EWS-WT1; GUD; NPHS4; WAGR; WIT-2; WT33
Exon (9)1563..2967
Gene:WT1
Gene Synonym:AWT1; EWS-WT1; GUD; NPHS4; WAGR; WIT-2; WT33
Translation MQDPASTCVPEPASQHTLRSGPGCLQQPEQQGVRDPGGIWAKLGAAEASAERLQGRRSRG ASGSEPQQMGSDVRDLNALLPAVPSLGGGGGCALPVSGAAQWAPVLDFAPPGASAYGSLG GPAPPPAPPPPPPPPPHSFIKQEPSWGGAEPHEEQCLSAFTVHFSGQFTGTAGACRYGPF GPPPPSQASSGQARMFPNAPYLPSCLESQPAIRNQGYSTVTFDGTPSYGHTPSHHAAQFP NHSFKHEDPMGQQGSLGEQQYSVPPPVYGCHTPTDSCTGSQALLLRTPYSSDNLYQMTSQ LECMTWNQMNLGATLKGHSTGYESDNHTTPILCGAQYRIHTHGVFRGIQDVRRVPGVAPT LVRSASETSEKRPFMCAYPGCNKRYFKLSHLQMHSRKHTGEKPYQCDFKDCERRFSRSDQ LKRHQRRHTGVKPFQCKTCQRKFSRSDHLKTHTRTHTGEKPFSCRWPSCQKKFARSDELV RHHNMHQRNMTKLQLAL
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Position Chain Variation Link
complement(101)-t, cdbSNP:5030133
complement(356)-c, adbSNP:2234581
complement(388)-t, gdbSNP:2234582
complement(391)-t, gdbSNP:5030135
complement(520)-t, cdbSNP:1799925
complement(721)-c, adbSNP:121907911
complement(742)-c, adbSNP:141135091
complement(784)-t, cdbSNP:2234583
complement(785)-g, adbSNP:9332973
complement(871)-dbSNP:
complement(871)-t, cdbSNP:9332974
complement(886)-g, adbSNP:183263057
complement(935)-t, cdbSNP:2234584
complement(938)-t, cdbSNP:142653301
complement(1000)-dbSNP:
complement(1000)-g, cdbSNP:200222400
complement(1005)-g, adbSNP:138073760
complement(1024)-g, adbSNP:145425799
complement(1075)-dbSNP:
complement(1075)-g, adbSNP:190440703
complement(1160)-dbSNP:
complement(1160)-g, adbSNP:121907908
complement(1187)-g, adbSNP:142059681
complement(1198)-g, adbSNP:2234590
complement(1207)-t, cdbSNP:17855567
complement(1224)-c, adbSNP:150194429
complement(1246)-dbSNP:
complement(1246)-g, adbSNP:16754
complement(1255)-g, adbSNP:151034312
complement(1264)-t, gdbSNP:147126640
complement(1278)-t, cdbSNP:147241955
complement(1281)-g, cdbSNP:142937387
complement(1285)-t, cdbSNP:141834493
complement(1306)-g, adbSNP:147939483
complement(1312)-g, adbSNP:200539928
complement(1332)-g, adbSNP:121907904
complement(1421)-dbSNP:
complement(1421)-t, gdbSNP:121907905
complement(1427)-t, cdbSNP:121907906
complement(1428)-t, cdbSNP:144788858
complement(1430)-t, cdbSNP:77183751
complement(1439)-t, cdbSNP:121907910
complement(1440)-g, adbSNP:121907901
complement(1462)-g, cdbSNP:121907907
complement(1472)-t, cdbSNP:28942089
complement(1490)-dbSNP:
complement(1490)-t, cdbSNP:28941777
1511+c, tdbSNP:121907909
complement(1517)-t, cdbSNP:28941779
complement(1523)-t, cdbSNP:121907900
complement(1524)-g, cdbSNP:121907903
complement(1529)-g, adbSNP:28941778
complement(1530)-g, adbSNP:121907902
complement(1584)-t, cdbSNP:139893274
complement(1678)-t, cdbSNP:202118284
complement(1683)-t, cdbSNP:148856160
complement(1696)-g, adbSNP:77462662
complement(1700)-t, gdbSNP:2234594
complement(1772)-g, adbSNP:5030315
complement(1822)-t, cdbSNP:111351882
complement(1908)-g, adbSNP:5030316
complement(1951)-g, cdbSNP:5030317
complement(1964)-c, adbSNP:181881769
complement(2029)-g, adbSNP:5030318
complement(2149)-t, gdbSNP:189407871
complement(2226)-t, cdbSNP:142726499
complement(2257..2258)-, cdbSNP:79335260
complement(2258)-, gdbSNP:5030319
complement(2286)-g, adbSNP:5030320
complement(2458)-t, gdbSNP:184847211
complement(2481)-t, cdbSNP:148478722
complement(2504)-g, cdbSNP:1042347
complement(2519)-g, adbSNP:5030322
complement(2548)-t, g, adbSNP:5030323
complement(2581)-g, cdbSNP:5030324
complement(2587)-g, adbSNP:5030325
complement(2661..2662)-, tdbSNP:72519751
complement(2662..2663)-, adbSNP:5030326
complement(2662)-, tdbSNP:77057105
complement(2733..2738)-, acacacdbSNP:147708114
complement(2733..2736)-, acacdbSNP:58549495
complement(2734..2737)-, cacadbSNP:72323763
complement(2735..2738)-, acacdbSNP:71678456
complement(2737..2738)-, acdbSNP:200382866
complement(2782)-t, cdbSNP:5030327
complement(2816)-t, adbSNP:5030328
complement(2893)-g, adbSNP:5030329
Gene SymbolWT1
Gene SynonymAWT1; EWS-WT1; GUD; NPHS4; WAGR; WIT-2; WT33
Chromosome11
Locus Map11p13
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000378 Homo sapiens Wilms tumor 1 (WT1), transcript variant A, mRNA. Full Length $863.33
ORF Sequence $433.26
NM_001198551 Homo sapiens Wilms tumor 1 (WT1), transcript variant E, mRNA. Full Length $719.20
ORF Sequence $263.61
NM_001198552 Homo sapiens Wilms tumor 1 (WT1), transcript variant F, mRNA. Full Length $707.02
ORF Sequence $251.43
NM_024424 Homo sapiens Wilms tumor 1 (WT1), transcript variant B, mRNA. Full Length $1059.80
ORF Sequence $448.05
NM_024426 Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA. Full Length $1062.95
ORF Sequence $450.66
Title Reduction in WT1 gene expression during early treatment predicts the outcome in patients with acute myeloid leukemia .
Author Andersson,C., Li,X., Lorenz,F., Golovleva,I., Wahlin,A. and Li,A.
Journal Diagn. Mol. Pathol. 21 (4), 225-233 (2012)
Title Analysis of SNP rs16754 of WT1 gene in a series of de novo acute myeloid leukemia patients .
Author Luna,I., Such,E., Cervera,J., Barragan,E., Jimenez-Velasco,A., Dolz,S., Ibanez,M., Gomez-Segui,I., Lopez-Pavia,M., Llop,M., Fuster,O., Oltra,S., Moscardo,F., Martinez-Cuadron,D., Senent,M.L., Gascon,A., Montesinos,P., Martin,G., Bolufer,P. and Sanz,M.A.
Journal Ann. Hematol. 91 (12), 1845-1853 (2012)
Title Repression of transcription by WT1-BASP1 requires the myristoylation of BASP1 and the PIP2-dependent recruitment of histone deacetylase .
Author Toska,E., Campbell,H.A., Shandilya,J., Goodfellow,S.J., Shore,P., Medler,K.F. and Roberts,S.G.
Journal Cell Rep 2 (3), 462-469 (2012)
Title The complex life of WT1 .
Author Wagner,K.D., Wagner,N. and Schedl,A.
Journal J. Cell. Sci. 116 (PT 9), 1653-1658 (2003)
Title Paternal expression of WT1 in human fibroblasts and lymphocytes .
Author Mitsuya,K., Sui,H., Meguro,M., Kugoh,H., Jinno,Y., Niikawa,N. and Oshimura,M.
Journal Hum. Mol. Genet. 6 (13), 2243-2246 (1997)
Title A non-AUG translational initiation event generates novel WT1 isoforms .
Author Bruening,W. and Pelletier,J.
Journal J. Biol. Chem. 271 (15), 8646-8654 (1996)
Title RNA editing in the Wilms' tumor susceptibility gene, WT1 .
Author Sharma,P.M., Bowman,M., Madden,S.L., Rauscher,F.J. III and Sukumar,S.
Journal Genes Dev. 8 (6), 720-731 (1994)
Title Mosaic and polymorphic imprinting of the WT1 gene in humans .
Author Jinno,Y., Yun,K., Nishiwaki,K., Kubota,T., Ogawa,O., Reeve,A.E. and Niikawa,N.
Journal Nat. Genet. 6 (3), 305-309 (1994)
Title Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development .
Author Bruening,W., Bardeesy,N., Silverman,B.L., Cohn,R.A., Machin,G.A., Aronson,A.J., Housman,D. and Pelletier,J.
Journal Nat. Genet. 1 (2), 144-148 (1992)
Title WT1: a novel tumor suppressor gene inactivated in Wilms' tumor .
Author Haber,D.A. and Buckler,A.J.
Journal New Biol. 4 (2), 97-106 (1992)

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