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Homo sapiens Wiskott-Aldrich syndrome (WAS), mRNA.


RefSeq Accession Definition Services Price Order
NM_000377 Homo sapiens Wiskott-Aldrich syndrome (WAS), mRNA. ORF Sequence $437.61
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RefSeq Version NM_000377.2, 187608471
Length 1844 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens Wiskott-Aldrich syndrome (WAS), mRNA.
Product wiskott-Aldrich syndrome protein
Comment

Summary: The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008].

RefSeq NP_000368.1
CDS 58..1566
Misc Feature(1)175..492
Misc Feature(2)175..492
Misc Feature(3)order(217..219,223..225,241..249,301..303,352..357,
Misc Feature(4)763..891
Misc Feature(5)order(769..771,778..780,787..789,793..795,802..804,
Misc Feature(6)928..930
Misc Feature(7)928..930
Misc Feature(8)928..930
Misc Feature(9)928..930
Misc Feature(10)1066..1095
Misc Feature(11)1183..1212
Misc Feature(12)1504..1506
Misc Feature(13)1504..1506
Misc Feature(14)1504..1506
Misc Feature(15)1507..1509
Misc Feature(16)1507..1509
Misc Feature(17)1507..1509
Exon (1)1..189
Gene:WAS
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (2)190..330
Gene:WAS
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (3)331..417
Gene:WAS
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (4)418..520
Gene:WAS
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (5)521..562
Gene:WAS
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (6)563..616
Gene:WAS
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (7)617..791
Gene:WAS
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (8)792..834
Gene:WAS
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (9)835..988
Gene:WAS
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (10)989..1395
Gene:WAS
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (11)1396..1510
Gene:WAS
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Exon (12)1511..1831
Gene:WAS
Gene Synonym:IMD2; SCNX; THC; THC1; WASP
Translation MSGGPMGGRPGGRGAPAVQQNIPSTLLQDHENQRLFEMLGRKCLTLATAVVQLYLALPPG AEHWTKEHCGAVCFVKDNPQKSYFIRLYGLQAGRLLWEQELYSQLVYSTPTPFFHTFAGD DCQAGLNFADEDEAQAFRALVQEKIQKRNQRQSGDRRQLPPPPTPANEERRGGLPPLPLH PGGDQGGPPVGPLSLGLATVDIQNPDITSSRYRGLPAPGPSPADKKRSGKKKISKADIGA PSGFKHVSHVGWDPQNGFDVNNLDPDLRSLFSRAGISEAQLTDAETSKLIYDFIEDQGGL EAVRQEMRRQEPLPPPPPPSRGGNQLPRPPIVGGNKGRSGPLPPVPLGIAPPPPTPRGPP PPGRGGPPPPPPPATGRSGPLPPPPPGAGGPPMPPPPPPPPPPPSSGNGPAPPPLPPALV PAGGLAPGGGRGALLDQIRQGIQLNKTPGAPESSALQPPPQSSEGLVGALMHVMQKRSRA IHSSDEGEDQAGDEDEDDEWDD
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Position Chain Variation Link
27+dbSNP:
27+c, tdbSNP:200571645
87+a, cdbSNP:144372473
94+c, tdbSNP:193922415
147+c, tdbSNP:148800063
157+c, tdbSNP:132630271
178+c, tdbSNP:11545907
187+g, tdbSNP:200530781
191+dbSNP:
191+c, tdbSNP:132630273
224+c, tdbSNP:132630269
230+c, gdbSNP:132630275
241+c, gdbSNP:141605347
301+c, tdbSNP:132630272
314+a, g, tdbSNP:132630268
321+c, tdbSNP:150520117
323+a, gdbSNP:139857045
367+dbSNP:
367+c, tdbSNP:193922414
408+c, tdbSNP:143299151
448+dbSNP:
448+a, gdbSNP:146220228
470+a, gdbSNP:139265251
581+dbSNP:
581+c, tdbSNP:149932808
595+a, cdbSNP:145040665
650+dbSNP:
650+c, tdbSNP:200261212
764+c, gdbSNP:132630270
820..821+dbSNP:
820..821+, cdbSNP:193922416
866+dbSNP:
866+c, tdbSNP:132630274
930+c, tdbSNP:149123892
1052+dbSNP:
1052+c, tdbSNP:2737799
1138+a, cdbSNP:201657175
1254..1262+, accgccaccdbSNP:193922412
1333+g, tdbSNP:201085962
1411+dbSNP:
1411+a, gdbSNP:57489208
1435+c, tdbSNP:143885622
1499+a, tdbSNP:132630276
1512+dbSNP:
1512+a, gdbSNP:35359501
1524+c, tdbSNP:141629445
1573+a, gdbSNP:190136544
Gene SymbolWAS
Gene SynonymIMD2; SCNX; THC; THC1; WASP
ChromosomeX
Locus MapXp11.4-p11.21
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000377 Homo sapiens Wiskott-Aldrich syndrome (WAS), mRNA. Full Length $534.76
ORF Sequence $437.61
Title A novel Wiskott-Aldrich syndrome protein mutation in an infant with thrombotic thrombocytopenic purpura .
Author Kawasaki,Y., Toyoda,H., Otsuki,S., Iwasa,T., Iwamoto,S., Azuma,E., Itoh-Habe,N., Wada,H., Fujimura,Y., Morio,T., Imai,K., Mitsuiki,N., Ohara,O. and Komada,Y.
Journal Eur. J. Haematol. 90 (2), 164-168 (2013)
Title Disease-associated missense mutations in the EVH1 domain disrupt intrinsic WASp function causing dysregulated actin dynamics and impaired dendritic cell migration .
Author Worth,A.J., Metelo,J., Bouma,G., Moulding,D., Fritzsche,M., Vernay,B., Charras,G., Cory,G.O., Thrasher,A.J. and Burns,S.O.
Journal Blood 121 (1), 72-84 (2013)
Title Detection of six novel mutations in WASP gene in fifteen Iranian Wiskott-Aldrich patients .
Author Safaei,S., Fazlollahi,M.R., Houshmand,M., Hamidieh,A.A., Bemanian,M.H., Alavi,S., Mousavi,F., Pourpak,Z. and Moin,M.
Journal Iran J Allergy Asthma Immunol 11 (4), 345-348 (2012)
Title Wiskott-Aldrich syndrome protein controls antigen-presenting cell-driven CD4+ T-cell motility by regulating adhesion to intercellular adhesion molecule-1 .
Author Lafouresse,F., Cotta-de-Almeida,V., Malet-Engra,G., Galy,A., Valitutti,S. and Dupre,L.
Journal Immunology 137 (2), 183-196 (2012)
Title Ubiquitylation-dependent negative regulation of WASp is essential for actin cytoskeleton dynamics .
Author Reicher,B., Joseph,N., David,A., Pauker,M.H., Perl,O. and Barda-Saad,M.
Journal Mol. Cell. Biol. 32 (15), 3153-3163 (2012)
Title Wiskott-Aldrich syndrome protein physically associates with Nck through Src homology 3 domains .
Author Rivero-Lezcano,O.M., Marcilla,A., Sameshima,J.H. and Robbins,K.C.
Journal Mol. Cell. Biol. 15 (10), 5725-5731 (1995)
Title Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene .
Author Kwan,S.P., Hagemann,T.L., Radtke,B.E., Blaese,R.M. and Rosen,F.S.
Journal Proc. Natl. Acad. Sci. U.S.A. 92 (10), 4706-4710 (1995)
Title X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene .
Author Villa,A., Notarangelo,L., Macchi,P., Mantuano,E., Cavagni,G., Brugnoni,D., Strina,D., Patrosso,M.C., Ramenghi,U., Sacco,M.G. et al.
Journal Nat. Genet. 9 (4), 414-417 (1995)
Title Hereditary X-linked thrombocytopenia maps to the same chromosomal region as the Wiskott-Aldrich syndrome .
Author Donner,M., Schwartz,M., Carlsson,K.U. and Holmberg,L.
Journal Blood 72 (6), 1849-1853 (1988)
Title Inherited thrombocytopenia .
Author Ata,M., Fisher,O.D. and Holman,C.A.
Journal Lancet 1 (7377), 119-123 (1965)

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