Reviewed, UniProtKB/Swiss-Prot P42768 (WASP_HUMAN)

Names and origin

Protein names

Recommended name:
    Wiskott-Aldrich syndrome protein
      Short name=WASp

Gene names

Name:	WAS
Synonyms:	IMD2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	502 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Effector protein for Rho-type GTPases, providing a link with the Arp2/3 complex that regulates the structure and dynamics of the actin cytoskeleton. Important for efficient actin polymerization. Possible regulator of lymphocyte and platelet function.
Subunit structure	Binds to CDC42, RAC, NCK, FYN, SRC kinase FGR, BTK, ABL, PSTPIP1, WIP, and to the p85 subunit of PLC-gamma. Binds the Arp2/3 complex. Ref.8 Ref.9 Ref.11
Subcellular location	Cytoplasm › cytoskeleton.
Tissue specificity	Expressed predominantly in the thymus. Also found, to a much lesser extent, in the spleen. Ref.1
Domain	The WH1 (Wasp homology 1) domain may bind a Pro-rich ligand. The CRIB (Cdc42/Rac-interactive-binding) region binds to the C-terminal WH2 domain in the autoinhibited state of the protein. Binding of Rho-type GTPases to the CRIB induces a conformation change and leads to activation.
Involvement in disease	Defects in WAS are the cause of Wiskott-Aldrich syndrome (WAS) [MIM:301000]; also known as eczema-thrombocytopenia-immunodeficiency syndrome. WAS is an X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10. Ref.3 Ref.19 Ref.20 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.30 Ref.32 Defects in WAS are the cause of thrombocytopenia type 1 (THC1) [MIM:313900]. Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. Defects in WAS are a cause of X-linked severe congenital neutropenia (XLN) [MIM:300299]. XLN is an X-linked immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. Ref.29
Sequence similarities	Contains 1 CRIB domain. Contains 1 WH1 domain. Contains 1 WH2 domain.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton
Disease	Disease mutation
Domain	Repeat
PTM	Phosphoprotein
Technical term	3D-structure Direct protein sequencing
Gene Ontology (GO)
Biological process	blood coagulation Ref.1 Traceable author statement. Source: ProtInc defense response Ref.1 Traceable author statement. Source: ProtInc epidermis development Ref.1 Traceable author statement. Source: ProtInc immune response Ref.1 Inferred from mutant phenotype. Source: HGNC
Cellular component	actin cytoskeleton Traceable author statement. Source: ProtInc cytoplasm Inferred from direct assay. Source: HPA nucleus Inferred from direct assay. Source: HPA
Molecular function	identical protein binding Ref.11 Inferred from physical interaction. Source: IntAct small GTPase regulator activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
itself		3	EBI-346375,EBI-346375
CDC42	P60953	6	EBI-346375,EBI-81752
Cdc42	P60766	1	EBI-346375,EBI-81763	From a different organism.
HCK	P08631	2	EBI-346375,EBI-346340
PTPN12	Q05209	1	EBI-346375,EBI-2266035
PTPN22	Q9Y2R2	1	EBI-346375,EBI-1211241
PTPRB	P23467	1	EBI-346375,EBI-1265766
PTPRC	P08575	1	EBI-346375,EBI-1341
PTPRG	P23470	1	EBI-346375,EBI-2258115
PTPRJ	Q12913	1	EBI-346375,EBI-2264500
PTPRO	Q16827	1	EBI-346375,EBI-723739
PTPRZ1	P23471	1	EBI-346375,EBI-2263175
WIPF1	O43516	6	EBI-346375,EBI-346356

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

1

1

Removed Ref.7

Chain

2 – 502

501

Wiskott-Aldrich syndrome protein

PRO_0000188990

Regions

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

Compositional bias

160 – 165

6

Poly-Pro

Compositional bias

312 – 319

8

Poly-Pro

Compositional bias

351 – 356

6

Poly-Pro

Compositional bias

359 – 362

4

Poly-Pro

Compositional bias

367 – 373

7

Poly-Pro

Compositional bias

380 – 386

7

Poly-Pro

Compositional bias

391 – 404

14

Poly-Pro

Compositional bias

485 – 502

18

Asp/Glu-rich (acidic)

Amino acid modifications

Modified residue

291

1

Phosphotyrosine Ref.10 Ref.12 Ref.13 Ref.14

Modified residue

483

1

Phosphoserine; by CK2 Ref.11 Ref.14

Modified residue

484

1

Phosphoserine; by CK2 Ref.11 Ref.14

Natural variations

Natural variant

27

1

L → F in XLT. Ref.20

VAR_005823

Natural variant

30

1

Missing in XLT.

VAR_005824

Natural variant

31

1

E → K in WAS. Ref.19 Ref.24

VAR_005825

Natural variant

43

1

C → W in WAS; moderate form. Ref.3 Ref.23

VAR_008105

Natural variant

45

1

T → M in WAS and XLT.

VAR_008106

Natural variant

48

1

T → I in XLT. Ref.20

VAR_005826

Natural variant

52

1

Q → H in WAS. Ref.32

VAR_012710

Natural variant

56

1

A → V in XLT. Ref.21

VAR_005827

Natural variant

58

1

P → L in WAS. Ref.3

VAR_022806

Natural variant

58

1

P → R in XLT. Ref.31

VAR_033255

Natural variant

70

1

G → W in WAS. Ref.32

VAR_012711

Natural variant

73

1

C → R in WAS; severe form. Ref.30

VAR_008107

Natural variant

75

1

V → M in XLT. Ref.30

VAR_005828

Natural variant

82

1

S → P in WAS; attenuated form. Ref.19

VAR_005829

Natural variant

83

1

Y → C in XLT. Ref.30

VAR_008108

Natural variant

84

1

F → L in WAS; severe form. Ref.25

VAR_008109

Natural variant

86

1

R → C in WAS. Ref.19 Ref.20 Ref.22 Ref.23 Ref.30

VAR_005832

Natural variant

86

1

R → H in WAS. Ref.19 Ref.20 Ref.22 Ref.23 Ref.30

VAR_005830

Natural variant

86

1

R → L in WAS. Ref.19 Ref.20 Ref.22 Ref.23 Ref.30

VAR_005831

Natural variant

89

1

G → D in WAS; mild form. Ref.25

VAR_008110

Natural variant

97

1

W → C in WAS; attenuated form. Ref.19

VAR_005833

Natural variant

131

1

E → K in WAS. Ref.20

VAR_005834

Natural variant

133

1

E → K in WAS; severe form. Ref.3 Ref.19 Ref.25 Ref.27 Ref.30

VAR_005835

Natural variant

134

1

A → T in WAS. Ref.3

VAR_022807

Natural variant

187

1

G → C in WAS. Ref.20

VAR_005836

Natural variant

236

1

A → E in XLT. Ref.21

VAR_005837

Natural variant

270

1

L → P in XLN; a constitutively activating mutation. Ref.29

VAR_033256

Natural variant

476

1

K → E in WAS. Ref.19

VAR_005838

Natural variant

477

1

R → K in XLT. Ref.20

VAR_005839

Natural variant

481

1

I → N in XLT. Ref.31

VAR_033257

Experimental info

Sequence conflict

332

1

V → A in AAD26691. Ref.4

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

502

Helix Strand Turn

Details...

Turn

235 – 237

3

Beta strand

245 – 250

6

Turn

254 – 256

3

Helix

265 – 271

7

Turn

272 – 275

4

Helix

289 – 296

8

Helix

300 – 307

8

Beta strand

315 – 317

3

Helix

432 – 440

9

Sequences

	Sequence		Length	Mass (Da)
	P42768-1 [UniParc]. Last modified January 23, 2007. Version 4. Checksum: 7228428672B7CB78	FASTA	502	52,913
	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

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation of a novel gene mutated in Wiskott-Aldrich syndrome." Derry J.M.J., Ochs H.D., Francke U. Cell 78:635-644(1994) [PubMed: 8069912] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY. Tissue: T-cell.
[2]	Erratum Derry J.M.J., Ochs H.D., Francke U. Cell 79:923-923(1994) [PubMed: 8001129] [Abstract]
[3]	"Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene." Kwan S.-P., Hagemann T.L., Radtke B.E., Blaese R.M., Rosen F.S. Proc. Natl. Acad. Sci. U.S.A. 92:4706-4710(1995) [PubMed: 7753869] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS WAS TRP-43; MET-45; LEU-58; LYS-133 AND THR-134.
[4]	"The identification and characterization of two promoters and the complete genomic sequence for the Wiskott-Aldrich syndrome gene." Hagemann T.L., Kwan S.-P. Biochem. Biophys. Res. Commun. 256:104-109(1999) [PubMed: 10066431] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]	"The DNA sequence of the human X chromosome." 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. Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Lymph.
[7]	"Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides." Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R., Vandekerckhove J. Nat. Biotechnol. 21:566-569(2003) [PubMed: 12665801] [Abstract] Cited for: PROTEIN SEQUENCE OF 2-13. Tissue: Platelet.
[8]	"Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42." Kolluri R., Tolias K.F., Carpenter C.L., Rosen F.S., Kirchhausen T. Proc. Natl. Acad. Sci. U.S.A. 93:5615-5618(1996) [PubMed: 8643625] [Abstract] Cited for: INTERACTION WITH CDC42.
[9]	"WIP, a protein associated with Wiskott-Aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells." Ramesh N., Anton I.M., Hartwig J.H., Geha R.S. Proc. Natl. Acad. Sci. U.S.A. 94:14671-14676(1997) [PubMed: 9405671] [Abstract] Cited for: INTERACTION WITH WIP.
[10]	"Phosphorylation of tyrosine 291 enhances the ability of WASp to stimulate actin polymerization and filopodium formation. Wiskott-Aldrich Syndrome protein." Cory G.O., Garg R., Cramer R., Ridley A.J. J. Biol. Chem. 277:45115-45121(2002) [PubMed: 12235133] [Abstract] Cited for: PHOSPHORYLATION AT TYR-291.
[11]	"Phosphorylation of the WASP-VCA domain increases its affinity for the Arp2/3 complex and enhances actin polymerization by WASP." Cory G.O.C., Cramer R., Blanchoin L., Ridley A.J. Mol. Cell 11:1229-1239(2003) [PubMed: 12769847] [Abstract] Cited for: PHOSPHORYLATION AT SER-483 AND SER-484, INTERACTION WITH THE ARP2/3 COMPLEX.
[12]	"Immunoaffinity profiling of tyrosine phosphorylation in cancer cells." 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. Nat. Biotechnol. 23:94-101(2005) [PubMed: 15592455] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-291, MASS SPECTROMETRY.
[13]	"Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer." 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. Cell 131:1190-1203(2007) [PubMed: 18083107] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-291, MASS SPECTROMETRY.
[14]	"Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed: 18088087] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-291; SER-483 AND SER-484, MASS SPECTROMETRY. Tissue: Platelet.
[15]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[16]	"Structure of Cdc42 in complex with the GTPase-binding domain of the 'Wiskott-Aldrich syndrome' protein." Abdul-Manan N., Aghazadeh B., Liu G.A., Majumdar A., Ouerfelli O., Siminovitch K.A., Rosen M.K. Nature 399:379-383(1999) [PubMed: 10360578] [Abstract] Cited for: STRUCTURE BY NMR OF 230-288 IN COMPLEX WITH CDC42.
[17]	"Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein." Kim A.S., Kakalis L.T., Abdul-Manan N., Liu G.A., Rosen M.K. Nature 404:151-158(2000) [PubMed: 10724160] [Abstract] Cited for: STRUCTURE BY NMR OF 242-492, CONFORMATION CHANGE.
[18]	"Chemical inhibition of N-WASP by stabilization of a native autoinhibited conformation." Peterson J.R., Bickford L.C., Morgan D., Kim A.S., Ouerfelli O., Kirschner M.W., Rosen M.K. Nat. Struct. Mol. Biol. 11:747-755(2004) [PubMed: 15235593] [Abstract] Cited for: STRUCTURE BY NMR OF 242-310 IN COMPLEX WITH WISKOSTATIN.
[19]	"Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus." Kolluri R., Shehabeldin A., Peacocke M., Lamhonwah A.-M., Teichert-Kuliszewska K., Weissman S.M., Siminovitch K.A. Hum. Mol. Genet. 4:1119-1126(1995) [PubMed: 8528198] [Abstract] Cited for: VARIANTS WAS HIS-30 DEL; LYS-31; MET-75; PRO-82; CYS-86; HIS-86; CYS-97; LYS-133 AND GLU-476.
[20]	"WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia." Derry J.M.J., Kerns J.A., Weinberg K.I., Ochs H.D., Volpini V., Estivill X., Walker A.P., Francke U. Hum. Mol. Genet. 4:1127-1135(1995) [PubMed: 8528199] [Abstract] Cited for: VARIANTS XLT PHE-27; ILE-48 AND LYS-477, VARIANTS WAS MET-75; LEU-86; HIS-86; LYS-131 AND CYS-187.
[21]	"X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene." 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. Nat. Genet. 9:414-417(1995) [PubMed: 7795648] [Abstract] Cited for: VARIANTS XLT VAL-56 AND GLU-236.
[22]	"Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product." Schindelhauer D., Weiss M., Hellebrand H., Golla A., Hergersberg M., Seger R., Belohradsky B.H., Meindl A. Hum. Genet. 98:68-76(1996) [PubMed: 8682510] [Abstract] Cited for: VARIANT WAS HIS-86.
[23]	"Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients." Remold-O'Donnell E., Cooley J., Shcherbina A., Hagemann T.L., Kwan S.-P., Kenney D.M., Rosen F.S. J. Immunol. 158:4021-4025(1997) [PubMed: 9126958] [Abstract] Cited for: VARIANTS WAS TRP-43; MET-45; MET-75 AND CYS-86.
[24]	"Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members' carrier status using three different methods." Ariga T., Yamada M., Sakiyama Y. Pediatr. Res. 41:535-540(1997) [PubMed: 9098856] [Abstract] Cited for: VARIANTS WAS LYS-31 AND MET-45.
[25]	"Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients." MacCarthy-Morrogh L., Gaspar H.B., Wang Y.-C., Katz F., Thompson L., Layton M., Jones A.M., Kinnon C. Clin. Immunol. Immunopathol. 88:22-27(1998) [PubMed: 9683546] [Abstract] Cited for: VARIANTS WAS MET-75; LEU-84; ASP-89 AND LYS-133.
[26]	"Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome." Facchetti F., Blanzuoli L., Vermi W., Notarangelo L.D., Giliani S., Fiorini M., Fasth A., Stewart D.M., Nelson D.L. J. Pathol. 185:99-107(1998) [PubMed: 9713366] [Abstract] Cited for: VARIANT WAS VAL-56.
[27]	"X-linked Wiskott-Aldrich syndrome in a girl." Parolini O., Ressmann G., Haas O.A., Pawlowsky J., Gadner H., Knapp W., Holter W. N. Engl. J. Med. 338:291-295(1998) [PubMed: 9445409] [Abstract] Cited for: VARIANT WAS LYS-133.
[28]	"Missense C168T in the Wiskott-Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia." Ho L.L., Ayling J., Prosser I., Kronenberg H., Iland H., Joshua D. Br. J. Haematol. 112:76-80(2001) [PubMed: 11167787] [Abstract] Cited for: VARIANT XLT MET-45.
[29]	"Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia." 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. Nat. Genet. 27:313-317(2001) [PubMed: 11242115] [Abstract] Cited for: VARIANT XLN PRO-270, CHARACTERIZATION OF VARIANT XLN PRO-270.
[30]	"Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes." Lemahieu V., Gastier J.M., Francke U. Hum. Mutat. 14:54-66(1999) [PubMed: 10447259] [Abstract] Cited for: VARIANTS WAS ARG-73; CYS-86 AND LYS-133, VARIANTS XLT MET-75 AND CYS-83.
[31]	"Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia." 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. Blood 99:2268-2269(2002) [PubMed: 11877312] [Abstract] Cited for: VARIANTS XLT ARG-58 AND ASN-481.
[32]	"Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations." El-Hakeh J., Rosenzweig S., Oleastro M., Basack N., Berozdnik L., Molina F., Rivas E.M., Zelazko M., Danielian S. Hum. Mutat. 19:186-187(2002) [PubMed: 11793485] [Abstract] Cited for: VARIANTS WAS HIS-52 AND TRP-70.
+	Additional computationally mapped references.

Web resources

WASbase

WAS mutation db

WASPbase

WAS mutation db

GeneReviews

Wikipedia

Wiskott-Aldrich syndrome protein entry

Cross-references

Sequence databases

EMBLGenBankDDBJ

U12707 mRNA. Translation: AAA62663.1.
U18935 Genomic DNA. Translation: AAA60381.1.
U19927 mRNA. Translation: AAC50140.1.
AF115549 Genomic DNA. Translation: AAD26691.1.
AF196970 Genomic DNA. No translation available.
BC002961 mRNA. Translation: AAH02961.1. Different initiation.
BC012738 mRNA. Translation: AAH12738.1.

IPI

IPI00001545.

PIR

A55197. A54747.

RefSeq

NP_000368.1.

UniGene

Hs.2157

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1CEE	NMR	-	B	230-288	[»]
1EJ5	NMR	-	A	242-492	[»]
1T84	NMR	-	A	242-492	[»]
2A3Z	X-ray	2.08	C	430-458	[»]
2K42	NMR	-	A	242-310	[»]
2OT0	X-ray	2.05	E/F/G/H	488-502	[»]

SMR

P42768. Positions 241-308.

DisProt

DP00215.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP:431N.

IntAct

P42768. 18 interactions.

PTM databases

PhosphoSite

P42768.

Proteomic databases

PRIDE

P42768.

Genome annotation databases

Ensembl

ENSG00000015285. Homo sapiens. [Contig view]

GeneID

7454.

KEGG

hsa:7454.

Organism-specific databases

GeneCards

GC0XP048427.

H-InvDB

HIX0016780.
HIX0019981.

HGNC

HGNC:12731. WAS.

HPA

CAB004290.
HPA002022.

MIM

300299. phenotype.
300392. gene.
301000. phenotype.
313900. phenotype.

Orphanet

852. Thrombocytopenia, X-linked.
906. Wiskott-Aldrich syndrome.
86788. X-linked severe congenital neutropenia.

PharmGKB

PA37342.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

P42768.

HOVERGEN

P42768.

OMA

P42768. MRRQEPL.

Enzyme and pathway databases

Pathway_Interaction_DB

tcrpathway. TCR signaling in naive CD4+ T cells.

Gene expression databases

ArrayExpress

P42768.

Bgee

P42768.

CleanEx

HS_WAS.

GermOnline

ENSG00000015285. Homo sapiens.

Family and domain databases

InterPro

IPR000697. EVH1.
IPR000095. PAK_box_Rho_bd.
IPR011993. PH_type.
IPR003124. WH2_actin_bd.
[Graphical view]

Gene3D

G3DSA:2.30.29.30. PH_type. 1 hit.

Pfam

PF00786. PBD. 1 hit.
PF00568. WH1. 1 hit.
PF02205. WH2. 1 hit.
[Graphical view]

SMART

SM00285. PBD. 1 hit.
SM00461. WH1. 1 hit.
SM00246. WH2. 1 hit.
[Graphical view]

PROSITE

PS50108. CRIB. 1 hit.
PS50229. WH1. 1 hit.
PS51082. WH2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

29188.

SOURCE

Search...

Entry information

Entry name

WASP_HUMAN

Accession

Primary (citable) accession number: P42768
Secondary accession number(s): Q9BU11, Q9UNJ9

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1995
Last sequence update:	January 23, 2007
Last modified:	June 16, 2009
This is version 115 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)