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UniProtKB/Swiss-Prot entry P42768

[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name WASP_HUMAN
Primary accession number P42768
Secondary accession numbers Q9BU11 Q9UNJ9
Integrated into Swiss-Prot on November 1, 1995
Sequence was last modified on January 23, 2007 (Sequence version 4)
Annotations were last modified on    June 16, 2009 (Entry version 115)
Name and origin of the protein
Protein name Wiskott-Aldrich syndrome protein
Synonym WASp
Gene name
Name: WAS
Synonyms: IMD2
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
 NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND TISSUE SPECIFICITY.
TISSUE=T-cell;
DOI=10.1016/0092-8674(94)90528-2; PubMed=8069912 [NCBI, ExPASy, EBI, Israel, Japan]
Derry J.M.J., Ochs H.D., Francke U.;
"Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.";
Cell 78:635-644(1994).
[2]
 ERRATUM.
PubMed=8001129 [NCBI, ExPASy, EBI, Israel, Japan]
Derry J.M.J., Ochs H.D., Francke U.;
Cell 79:923-923(1994).
[3]
 NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS WAS TRP-43; MET-45; LEU-58; LYS-133 AND THR-134.
DOI=10.1073/pnas.92.10.4706; PubMed=7753869 [NCBI, ExPASy, EBI, Israel, Japan]
Kwan S.-P., Hagemann T.L., Radtke B.E., Blaese R.M., Rosen F.S.;
"Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.";
Proc. Natl. Acad. Sci. U.S.A. 92:4706-4710(1995).
[4]
 NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1006/bbrc.1999.0292; PubMed=10066431 [NCBI, ExPASy, EBI, Israel, Japan]
Hagemann T.L., Kwan S.-P.;
"The identification and characterization of two promoters and the complete genomic sequence for the Wiskott-Aldrich syndrome gene.";
Biochem. Biophys. Res. Commun. 256:104-109(1999).
[5]
 NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature03440; PubMed=15772651 [NCBI, ExPASy, EBI, Israel, Japan]
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
[6]
 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Lymph;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
 PROTEIN SEQUENCE OF 2-13.
TISSUE=Platelet;
DOI=10.1038/nbt810; PubMed=12665801 [NCBI, ExPASy, EBI, Israel, Japan]
Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R., Vandekerckhove J.;
"Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.";
Nat. Biotechnol. 21:566-569(2003).
[8]
 INTERACTION WITH CDC42.
DOI=10.1073/pnas.93.11.5615; PubMed=8643625 [NCBI, ExPASy, EBI, Israel, Japan]
Kolluri R., Tolias K.F., Carpenter C.L., Rosen F.S., Kirchhausen T.;
"Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42.";
Proc. Natl. Acad. Sci. U.S.A. 93:5615-5618(1996).
[9]
 INTERACTION WITH WIP.
DOI=10.1073/pnas.94.26.14671; PubMed=9405671 [NCBI, ExPASy, EBI, Israel, Japan]
Ramesh N., Anton I.M., Hartwig J.H., Geha R.S.;
"WIP, a protein associated with Wiskott-Aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells.";
Proc. Natl. Acad. Sci. U.S.A. 94:14671-14676(1997).
[10]
 PHOSPHORYLATION AT TYR-291.
DOI=10.1074/jbc.M203346200; PubMed=12235133 [NCBI, ExPASy, EBI, Israel, Japan]
Cory G.O., Garg R., Cramer R., Ridley A.J.;
"Phosphorylation of tyrosine 291 enhances the ability of WASp to stimulate actin polymerization and filopodium formation. Wiskott-Aldrich Syndrome protein.";
J. Biol. Chem. 277:45115-45121(2002).
[11]
 PHOSPHORYLATION AT SER-483 AND SER-484, AND INTERACTION WITH THE ARP2/3 COMPLEX.
DOI=10.1016/S1097-2765(03)00172-2; PubMed=12769847 [NCBI, ExPASy, EBI, Israel, Japan]
Cory G.O.C., Cramer R., Blanchoin L., Ridley A.J.;
"Phosphorylation of the WASP-VCA domain increases its affinity for the Arp2/3 complex and enhances actin polymerization by WASP.";
Mol. Cell 11:1229-1239(2003).
[12]
 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-291, AND MASS SPECTROMETRY.
DOI=10.1038/nbt1046; PubMed=15592455 [NCBI, ExPASy, EBI, Israel, Japan]
Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H., Zha X.-M., Polakiewicz R.D., Comb M.J.;
"Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.";
Nat. Biotechnol. 23:94-101(2005).
[13]
 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-291, AND MASS SPECTROMETRY.
DOI=10.1016/j.cell.2007.11.025; PubMed=18083107 [NCBI, ExPASy, EBI, Israel, Japan]
Rikova K., Guo A., Zeng Q., Possemato A., Yu J., Haack H., Nardone J., Lee K., Reeves C., Li Y., Hu Y., Tan Z., Stokes M., Sullivan L., Mitchell J., Wetzel R., Macneill J., Ren J.M., Yuan J., Bakalarski C.E., Villen J., Kornhauser J.M., Smith B., Li D., Zhou X., Gygi S.P., Gu T.-L., Polakiewicz R.D., Rush J., Comb M.J.;
"Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.";
Cell 131:1190-1203(2007).
[14]
 PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-291; SER-483 AND SER-484, AND MASS SPECTROMETRY.
TISSUE=Platelet;
DOI=10.1021/pr0704130; PubMed=18088087 [NCBI, ExPASy, EBI, Israel, Japan]
Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A.;
"Phosphoproteome of resting human platelets.";
J. Proteome Res. 7:526-534(2008).
[15]
 IDENTIFICATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
Colinge J., Superti-Furga G., Bennett K.L.;
Submitted (OCT-2008) to UniProtKB.
[16]
 STRUCTURE BY NMR OF 230-288 IN COMPLEX WITH CDC42.
DOI=10.1038/20726; PubMed=10360578 [NCBI, ExPASy, EBI, Israel, Japan]
Abdul-Manan N., Aghazadeh B., Liu G.A., Majumdar A., Ouerfelli O., Siminovitch K.A., Rosen M.K.;
"Structure of Cdc42 in complex with the GTPase-binding domain of the 'Wiskott-Aldrich syndrome' protein.";
Nature 399:379-383(1999).
[17]
 STRUCTURE BY NMR OF 242-492, AND CONFORMATION CHANGE.
DOI=10.1038/35004513; PubMed=10724160 [NCBI, ExPASy, EBI, Israel, Japan]
Kim A.S., Kakalis L.T., Abdul-Manan N., Liu G.A., Rosen M.K.;
"Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein.";
Nature 404:151-158(2000).
[18]
 STRUCTURE BY NMR OF 242-310 IN COMPLEX WITH WISKOSTATIN.
DOI=10.1038/nsmb796; PubMed=15235593 [NCBI, ExPASy, EBI, Israel, Japan]
Peterson J.R., Bickford L.C., Morgan D., Kim A.S., Ouerfelli O., Kirschner M.W., Rosen M.K.;
"Chemical inhibition of N-WASP by stabilization of a native autoinhibited conformation.";
Nat. Struct. Mol. Biol. 11:747-755(2004).
[19]
 VARIANTS WAS HIS-30 DEL; LYS-31; MET-75; PRO-82; CYS-86; HIS-86; CYS-97; LYS-133 AND GLU-476.
DOI=10.1093/hmg/4.7.1119; PubMed=8528198 [NCBI, ExPASy, EBI, Israel, Japan]
Kolluri R., Shehabeldin A., Peacocke M., Lamhonwah A.-M., Teichert-Kuliszewska K., Weissman S.M., Siminovitch K.A.;
"Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.";
Hum. Mol. Genet. 4:1119-1126(1995).
[20]
 VARIANTS XLT PHE-27; ILE-48 AND LYS-477, AND VARIANTS WAS MET-75; LEU-86; HIS-86; LYS-131 AND CYS-187.
DOI=10.1093/hmg/4.7.1127; PubMed=8528199 [NCBI, ExPASy, EBI, Israel, Japan]
Derry J.M.J., Kerns J.A., Weinberg K.I., Ochs H.D., Volpini V., Estivill X., Walker A.P., Francke U.;
"WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.";
Hum. Mol. Genet. 4:1127-1135(1995).
[21]
 VARIANTS XLT VAL-56 AND GLU-236.
DOI=10.1038/ng0495-414; PubMed=7795648 [NCBI, ExPASy, EBI, Israel, Japan]
Villa A., Notarangelo L., Macchi P., Mantuano E., Cavagni G., Brugnoni D., Strina D., Patrosso M.C., Ramenghi U., Sacco M.G., Ugazio A., Vezzoni P.;
"X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.";
Nat. Genet. 9:414-417(1995).
[22]
 VARIANT WAS HIS-86.
DOI=10.1007/s004390050162; PubMed=8682510 [NCBI, ExPASy, EBI, Israel, Japan]
Schindelhauer D., Weiss M., Hellebrand H., Golla A., Hergersberg M., Seger R., Belohradsky B.H., Meindl A.;
"Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.";
Hum. Genet. 98:68-76(1996).
[23]
 VARIANTS WAS TRP-43; MET-45; MET-75 AND CYS-86.
PubMed=9126958 [NCBI, ExPASy, EBI, Israel, Japan]
Remold-O'Donnell E., Cooley J., Shcherbina A., Hagemann T.L., Kwan S.-P., Kenney D.M., Rosen F.S.;
"Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients.";
J. Immunol. 158:4021-4025(1997).
[24]
 VARIANTS WAS LYS-31 AND MET-45.
DOI=10.1203/00006450-199704000-00013; PubMed=9098856 [NCBI, ExPASy, EBI, Israel, Japan]
Ariga T., Yamada M., Sakiyama Y.;
"Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members' carrier status using three different methods.";
Pediatr. Res. 41:535-540(1997).
[25]
 VARIANTS WAS MET-75; LEU-84; ASP-89 AND LYS-133.
DOI=10.1006/clin.1998.4557; PubMed=9683546 [NCBI, ExPASy, EBI, Israel, Japan]
MacCarthy-Morrogh L., Gaspar H.B., Wang Y.-C., Katz F., Thompson L., Layton M., Jones A.M., Kinnon C.;
"Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients.";
Clin. Immunol. Immunopathol. 88:22-27(1998).
[26]
 VARIANT WAS VAL-56.
DOI=10.1002/(SICI)1096-9896(199805)185:1<99::AID-PATH48>3.0.CO;2-L; PubMed=9713366 [NCBI, ExPASy, EBI, Israel, Japan]
Facchetti F., Blanzuoli L., Vermi W., Notarangelo L.D., Giliani S., Fiorini M., Fasth A., Stewart D.M., Nelson D.L.;
"Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome.";
J. Pathol. 185:99-107(1998).
[27]
 VARIANT WAS LYS-133.
DOI=10.1056/NEJM199801293380504; PubMed=9445409 [NCBI, ExPASy, EBI, Israel, Japan]
Parolini O., Ressmann G., Haas O.A., Pawlowsky J., Gadner H., Knapp W., Holter W.;
"X-linked Wiskott-Aldrich syndrome in a girl.";
N. Engl. J. Med. 338:291-295(1998).
[28]
 VARIANT XLT MET-45.
DOI=10.1046/j.1365-2141.2001.02465.x; PubMed=11167787 [NCBI, ExPASy, EBI, Israel, Japan]
Ho L.L., Ayling J., Prosser I., Kronenberg H., Iland H., Joshua D.;
"Missense C168T in the Wiskott-Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.";
Br. J. Haematol. 112:76-80(2001).
[29]
 VARIANT XLN PRO-270, AND CHARACTERIZATION OF VARIANT XLN PRO-270.
DOI=10.1038/85886; PubMed=11242115 [NCBI, ExPASy, EBI, Israel, Japan]
Devriendt K., Kim A.S., Mathijs G., Frints S.G.M., Schwartz M., Van Den Oord J.J., Verhoef G.E.G., Boogaerts M.A., Fryns J.-P., You D., Rosen M.K., Vandenberghe P.;
"Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.";
Nat. Genet. 27:313-317(2001).
[30]
 VARIANTS WAS ARG-73; CYS-86 AND LYS-133, AND VARIANTS XLT MET-75 AND CYS-83.
DOI=10.1002/(SICI)1098-1004(1999)14:1<54::AID-HUMU7>3.3.CO;2-5; PubMed=10447259 [NCBI, ExPASy, EBI, Israel, Japan]
Lemahieu V., Gastier J.M., Francke U.;
"Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.";
Hum. Mutat. 14:54-66(1999).
[31]
 VARIANTS XLT ARG-58 AND ASN-481.
DOI=10.1182/blood.V99.6.2268; PubMed=11877312 [NCBI, ExPASy, EBI, Israel, Japan]
Notarangelo L.D., Mazza C., Giliani S., D'Aria C., Gandellini F., Ravelli C., Locatelli M.G., Nelson D.L., Ochs H.D., Notarangelo L.D.;
"Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.";
Blood 99:2268-2269(2002).
[32]
 VARIANTS WAS HIS-52 AND TRP-70.
DOI=10.1002/humu.9013; PubMed=11793485 [NCBI, ExPASy, EBI, Israel, Japan]
El-Hakeh J., Rosenzweig S., Oleastro M., Basack N., Berozdnik L., Molina F., Rivas E.M., Zelazko M., Danielian S.;
"Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.";
Hum. Mutat. 19:186-187(2002).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
U12707; AAA62663.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U18935; AAA60381.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U19927; AAC50140.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF115549; AAD26691.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF196970; -; NOT_ANNOTATED_CDS; Genomic_DNA.[EMBL / GenBank / DDBJ]
BC002961; AAH02961.1; ALT_INIT; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC012738; AAH12738.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00001545; -.
PIR A54747; A55197.
RefSeq NP_000368.1; -.
UniGene Hs.2157
3D structure databases
PDB
1CEE; NMR; -; B=230-288.[ExPASy / RCSB / EBI]
1EJ5; NMR; -; A=242-492.[ExPASy / RCSB / EBI]
1T84; NMR; -; A=242-492.[ExPASy / RCSB / EBI]
2A3Z; X-ray; 2.08 A; C=430-458.[ExPASy / RCSB / EBI]
2K42; NMR; -; A=242-310.[ExPASy / RCSB / EBI]
2OT0; X-ray; 2.05 A; E/F/G/H=488-502.[ExPASy / RCSB / EBI]
Detailed list of linked structures.
PDBsum 1CEE; -.
1EJ5; -.
1T84; -.
2A3Z; -.
2K42; -.
2OT0; -.
SMR P42768; 241-308.
DisProt DP00215; -.
ModBase P42768.
Protein-protein interaction databases
DIP DIP:431N; -.
IntAct P42768; 18.
PTM databases
PhosphoSite P42768; -.
Enzyme and pathway databases
Pathway_Interaction_DB tcrpathway; TCR signaling in naive CD4+ T cells.
Organism-specific databases
GeneCards GC0XP048427; -.
H-InvDB HIX0016780; -.
HIX0019981; -.
HGNC HGNC:12731; WAS.
GenAtlas WAS.
HPA CAB004290; -.
HPA002022; -.
MIM 300299; phenotype. [NCBI / EBI]
300392; gene. [NCBI / EBI]
301000; phenotype. [NCBI / EBI]
313900; phenotype. [NCBI / EBI]
Orphanet 852; Thrombocytopenia, X-linked.
906; Wiskott-Aldrich syndrome.
86788; X-linked severe congenital neutropenia.
PharmGKB PA37342; -.
Gene expression databases
ArrayExpress P42768; -.
Bgee P42768; -.
CleanEx HS_WAS; -.
GermOnline ENSG00000015285; Homo sapiens.
Ontologies
GO
GO:0015629; Cellular component: actin cytoskeleton (traceable author statement from ProtInc).
GO:0005737; Cellular component: cytoplasm (inferred from direct assay from HPA).
GO:0005634; Cellular component: nucleus (inferred from direct assay from HPA).
GO:0042802; Molecular function: identical protein binding (inferred from physical interaction from IntAct).
GO:0005083; Molecular function: small GTPase regulator activity (traceable author statement from ProtInc).
GO:0007596; Biological process: blood coagulation (traceable author statement from ProtInc).
GO:0006952; Biological process: defense response (traceable author statement from ProtInc).
GO:0008544; Biological process: epidermis development (traceable author statement from ProtInc).
GO:0006955; Biological process: immune response (inferred from mutant phenotype from HGNC).
QuickGo view.
Family and domain databases
InterPro IPR000697; EVH1.
IPR000095; PAK_box_Rho_bd.
IPR011993; PH_type.
IPR003124; WH2_actin_bd.
Graphical view of domain structure.
Gene3D G3DSA:2.30.29.30; PH_type; 1.
Pfam PF00786; PBD; 1.
PF00568; WH1; 1.
PF02205; WH2; 1.
Pfam graphical view of domain structure.
SMART SM00285; PBD; 1.
SM00461; WH1; 1.
SM00246; WH2; 1.
SMART graphical view of domain structure.
PROSITE PS50108; CRIB; 1.
PS50229; WH1; 1.
PS51082; WH2; 1.
PROSITE graphical view of domain structure (profiles).
Proteomic databases
PRIDE P42768; -.
Genome annotation databases
Ensembl ENSG00000015285; Homo sapiens. [Contig view]
GeneID 7454; -.
KEGG hsa:7454; -.
Phylogenomic databases
HOGENOM P42768; -.
HOVERGEN P42768; -.
OMA P42768; MRRQEPL.
Other
NextBio 29188; -.
SOURCE WAS; Homo sapiens.
ProtoNet P42768.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Cytoplasm; Cytoskeleton; Direct protein sequencing; Disease mutation; Phosphoprotein; Repeat.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
INIT_MET   1     1        Removed. 
CHAIN   2   502  501     Wiskott-Aldrich syndrome protein. PRO_0000188990
DOMAIN   39   148  110     WH1. 
DOMAIN   238   251  14     CRIB. 
REPEAT   337   346  10     GRSGPLPPXP motif 1. 
REPEAT   376   385  10     GRSGPLPPXP motif 2. 
DOMAIN   430   447  18     WH2. 
COMPBIAS   160   165  6     Poly-Pro. 
COMPBIAS   312   319  8     Poly-Pro. 
COMPBIAS   351   356  6     Poly-Pro. 
COMPBIAS   359   362  4     Poly-Pro. 
COMPBIAS   367   373  7     Poly-Pro. 
COMPBIAS   380   386  7     Poly-Pro. 
COMPBIAS   391   404  14     Poly-Pro. 
COMPBIAS   485   502  18     Asp/Glu-rich (acidic). 
MOD_RES   291   291        Phosphotyrosine. 
MOD_RES   483   483        Phosphoserine; by CK2. 
MOD_RES   484   484        Phosphoserine; by CK2. 
VARIANT   27    27  1     L -> F (in XLT). VAR_005823 
VARIANT   30    30  1     Missing (in XLT). VAR_005824
VARIANT   31    31  1     E -> K (in WAS). VAR_005825 
VARIANT   43    43  1     C -> W (in WAS; moderate form). VAR_008105 
VARIANT   45    45  1     T -> M (in WAS and XLT). VAR_008106 
VARIANT   48    48  1     T -> I (in XLT). VAR_005826 
VARIANT   52    52  1     Q -> H (in WAS). VAR_012710 
VARIANT   56    56  1     A -> V (in XLT). VAR_005827 
VARIANT   58    58  1     P -> L (in WAS). VAR_022806 
VARIANT   58    58  1     P -> R (in XLT). VAR_033255 
VARIANT   70    70  1     G -> W (in WAS). VAR_012711 
VARIANT   73    73  1     C -> R (in WAS; severe form). VAR_008107 
VARIANT   75    75  1     V -> M (in XLT). VAR_005828 
VARIANT   82    82  1     S -> P (in WAS; attenuated form). VAR_005829 
VARIANT   83    83  1     Y -> C (in XLT). VAR_008108 
VARIANT   84    84  1     F -> L (in WAS; severe form). VAR_008109 
VARIANT   86    86  1     R -> C (in WAS). VAR_005832 
VARIANT   86    86  1     R -> H (in WAS). VAR_005830 
VARIANT   86    86  1     R -> L (in WAS). VAR_005831 
VARIANT   89    89  1     G -> D (in WAS; mild form). VAR_008110 
VARIANT   97    97  1     W -> C (in WAS; attenuated form). VAR_005833 
VARIANT   131   131  1     E -> K (in WAS). VAR_005834 
VARIANT   133   133  1     E -> K (in WAS; severe form). VAR_005835 
VARIANT   134   134  1     A -> T (in WAS). VAR_022807 
VARIANT   187   187  1     G -> C (in WAS). VAR_005836 
VARIANT   236   236  1     A -> E (in XLT). VAR_005837 
VARIANT   270   270  1     L -> P (in XLN; a constitutively activating mutation). VAR_033256 
VARIANT   476   476  1     K -> E (in WAS). VAR_005838 
VARIANT   477   477  1     R -> K (in XLT). VAR_005839 
VARIANT   481   481  1     I -> N (in XLT). VAR_033257 
CONFLICT   332   332        V -> A (in Ref. 4; AAD26691). 
TURN   235   237  3      
STRAND   245   250  6      
TURN   254   256  3      
HELIX   265   271  7      
TURN   272   275  4      
HELIX   289   296  8      
HELIX   300   307  8      
STRAND   315   317  3      
HELIX   432   440  9      
Sequence information
Length: 502 AA [This is the length of the unprocessed precursor] Molecular weight: 52913 Da [This is the MW of the unprocessed precursor] CRC64: 7228428672B7CB78 [This is a checksum on the sequence] 
        10         20         30         40         50         60 
MSGGPMGGRP GGRGAPAVQQ NIPSTLLQDH ENQRLFEMLG RKCLTLATAV VQLYLALPPG 

        70         80         90        100        110        120 
AEHWTKEHCG AVCFVKDNPQ KSYFIRLYGL QAGRLLWEQE LYSQLVYSTP TPFFHTFAGD 

       130        140        150        160        170        180 
DCQAGLNFAD EDEAQAFRAL VQEKIQKRNQ RQSGDRRQLP PPPTPANEER RGGLPPLPLH 

       190        200        210        220        230        240 
PGGDQGGPPV GPLSLGLATV DIQNPDITSS RYRGLPAPGP SPADKKRSGK KKISKADIGA 

       250        260        270        280        290        300 
PSGFKHVSHV GWDPQNGFDV NNLDPDLRSL FSRAGISEAQ LTDAETSKLI YDFIEDQGGL 

       310        320        330        340        350        360 
EAVRQEMRRQ EPLPPPPPPS RGGNQLPRPP IVGGNKGRSG PLPPVPLGIA PPPPTPRGPP 

       370        380        390        400        410        420 
PPGRGGPPPP PPPATGRSGP LPPPPPGAGG PPMPPPPPPP PPPPSSGNGP APPPLPPALV 

       430        440        450        460        470        480 
PAGGLAPGGG RGALLDQIRQ GIQLNKTPGA PESSALQPPP QSSEGLVGAL MHVMQKRSRA 

       490        500 
IHSSDEGEDQ AGDEDEDDEW DD
P42768 in FASTA format

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