Reviewed,
UniProtKB/Swiss-Prot P42768 (WASP_HUMAN)
Last modified
June 16, 2009.
Version 115.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Wiskott-Aldrich syndrome protein Short name=WASp | ||||
| Gene names |
| ||||
| 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 | |
| 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.1Traceable author statement. Source: ProtInc epidermis development Ref.1Traceable author statement. Source: ProtInc immune response Ref.1Inferred from mutant phenotype. Source: HGNC |
| Cellular component | actin cytoskeleton Traceable author statement. Source: ProtInc cytoplasmInferred from direct assay. Source: HPA nucleusInferred from direct assay. Source: HPA |
| Molecular function | identical protein binding Ref.11 Inferred from physical interaction. Source: IntAct small GTPase regulator activityTraceable 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 | ||||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||||
| 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
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References
| « Hide '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. 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. 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 | |||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | |||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||
| 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 |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


