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P42768

- WASP_HUMAN

UniProt

P42768 - WASP_HUMAN

Protein

Wiskott-Aldrich syndrome protein

Gene

WAS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 175 (01 Oct 2014)
      Sequence version 4 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Effector protein for Rho-type GTPases. Regulates actin filament reorganization via its interaction with the Arp2/3 complex. Important for efficient actin polymerization. Possible regulator of lymphocyte and platelet function. Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria.3 Publications

    GO - Molecular functioni

    1. identical protein binding Source: IntAct
    2. protein binding Source: IntAct
    3. small GTPase regulator activity Source: ProtInc

    GO - Biological processi

    1. actin filament-based movement Source: Ensembl
    2. actin filament polymerization Source: Ensembl
    3. actin polymerization or depolymerization Source: ProtInc
    4. blood coagulation Source: ProtInc
    5. defense response Source: ProtInc
    6. endosomal transport Source: Ensembl
    7. epidermis development Source: ProtInc
    8. Fc-gamma receptor signaling pathway involved in phagocytosis Source: Reactome
    9. immune response Source: HGNC
    10. innate immune response Source: Reactome
    11. positive regulation of Arp2/3 complex-mediated actin nucleation Source: InterPro
    12. protein complex assembly Source: ProtInc
    13. regulation of catalytic activity Source: GOC
    14. T cell activation Source: Ensembl
    15. T cell receptor signaling pathway Source: Reactome

    Enzyme and pathway databases

    ReactomeiREACT_12623. Generation of second messenger molecules.
    REACT_160086. Regulation of actin dynamics for phagocytic cup formation.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Wiskott-Aldrich syndrome protein
    Short name:
    WASp
    Gene namesi
    Name:WAS
    Synonyms:IMD2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:12731. WAS.

    Subcellular locationi

    GO - Cellular componenti

    1. actin cytoskeleton Source: ProtInc
    2. cytosol Source: Reactome
    3. extracellular vesicular exosome Source: UniProt
    4. vesicle membrane Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Wiskott-Aldrich syndrome (WAS) [MIM:301000]: An X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10.11 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti31 – 311E → K in WAS. 2 Publications
    VAR_005825
    Natural varianti43 – 431C → W in WAS; moderate form. 2 Publications
    VAR_008105
    Natural varianti45 – 451T → M in WAS and THC1. 4 Publications
    VAR_008106
    Natural varianti52 – 521Q → H in WAS. 1 Publication
    VAR_012710
    Natural varianti58 – 581P → L in WAS. 1 Publication
    VAR_022806
    Natural varianti70 – 701G → W in WAS. 1 Publication
    VAR_012711
    Natural varianti73 – 731C → R in WAS; severe form. 1 Publication
    VAR_008107
    Natural varianti82 – 821S → P in WAS; attenuated form. 1 Publication
    VAR_005829
    Natural varianti84 – 841F → L in WAS; severe form. 1 Publication
    VAR_008109
    Natural varianti86 – 861R → C in WAS. 3 Publications
    VAR_005832
    Natural varianti86 – 861R → H in WAS. 3 Publications
    VAR_005830
    Natural varianti86 – 861R → L in WAS. 1 Publication
    VAR_005831
    Natural varianti89 – 891G → D in WAS; mild form. 1 Publication
    VAR_008110
    Natural varianti97 – 971W → C in WAS; attenuated form. 1 Publication
    VAR_005833
    Natural varianti131 – 1311E → K in WAS. 1 Publication
    Corresponds to variant rs146220228 [ dbSNP | Ensembl ].
    VAR_005834
    Natural varianti133 – 1331E → K in WAS; severe form. 5 Publications
    VAR_005835
    Natural varianti134 – 1341A → T in WAS. 1 Publication
    VAR_022807
    Natural varianti187 – 1871G → C in WAS. 1 Publication
    VAR_005836
    Natural varianti476 – 4761K → E in WAS. 1 Publication
    VAR_005838
    Thrombocytopenia 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.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271L → F in THC1. 1 Publication
    VAR_005823
    Natural varianti30 – 301Missing in THC1. 1 Publication
    VAR_005824
    Natural varianti45 – 451T → M in WAS and THC1. 4 Publications
    VAR_008106
    Natural varianti48 – 481T → I in THC1. 1 Publication
    VAR_005826
    Natural varianti56 – 561A → V in THC1. 2 Publications
    VAR_005827
    Natural varianti58 – 581P → R in THC1. 1 Publication
    Corresponds to variant rs28935178 [ dbSNP | Ensembl ].
    VAR_033255
    Natural varianti75 – 751V → M in THC1. 5 Publications
    VAR_005828
    Natural varianti83 – 831Y → C in THC1. 1 Publication
    VAR_008108
    Natural varianti236 – 2361A → E in THC1. 1 Publication
    VAR_005837
    Natural varianti477 – 4771R → K in THC1. 1 Publication
    VAR_005839
    Natural varianti481 – 4811I → N in THC1. 1 Publication
    VAR_033257
    Neutropenia, severe congenital, X-linked (XLN) [MIM:300299]: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti270 – 2701L → P in XLN; a constitutively activating mutation. 1 Publication
    Corresponds to variant rs28936079 [ dbSNP | Ensembl ].
    VAR_033256

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi300299. phenotype.
    301000. phenotype.
    313900. phenotype.
    Orphaneti906. Wiskott-Aldrich syndrome.
    86788. X-linked severe congenital neutropenia.
    852. X-linked thrombocytopenia with normal platelets.
    PharmGKBiPA37342.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 502501Wiskott-Aldrich syndrome proteinPRO_0000188990Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei291 – 2911Phosphotyrosine; by FYN and HCK5 Publications
    Modified residuei483 – 4831Phosphoserine; by CK23 Publications
    Modified residuei484 – 4841Phosphoserine; by CK23 Publications

    Post-translational modificationi

    Phosphorylated at Tyr-291 by FYN and HCK, inducing WAS effector activity after TCR engagement. Phosphorylation at Tyr-291 enhances WAS activity in promoting actin polymerization and filopodia formation.6 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiP42768.
    PaxDbiP42768.
    PRIDEiP42768.

    PTM databases

    PhosphoSiteiP42768.

    Expressioni

    Tissue specificityi

    Expressed predominantly in the thymus. Also found, to a much lesser extent, in the spleen.1 Publication

    Gene expression databases

    ArrayExpressiP42768.
    BgeeiP42768.
    CleanExiHS_WAS.
    GenevestigatoriP42768.

    Organism-specific databases

    HPAiCAB004290.
    HPA002022.

    Interactioni

    Subunit structurei

    Interacts with NCK1 (via SH3 domains) By similarity. Interacts with CDC42, RAC, NCK, HCK, FYN, SRC kinase FGR, BTK, ABL1, PSTPIP1, WIP, and to the p85 subunit of PLC-gamma. Binds the Arp2/3 complex. Interacts (via C-terminus) with ALDOA. Interacts with E.coli effector protein EspF(U).By similarity9 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself3EBI-346375,EBI-346375
    CDC42P6095310EBI-346375,EBI-81752
    CTTNQ142473EBI-346375,EBI-351886
    HCKP086319EBI-346375,EBI-346340
    HckP081033EBI-346375,EBI-6248894From a different organism.
    SNX33Q8WV413EBI-346375,EBI-2481535
    WIPF1O4351611EBI-346375,EBI-346356

    Protein-protein interaction databases

    BioGridi113293. 54 interactions.
    DIPiDIP-431N.
    IntActiP42768. 37 interactions.
    MINTiMINT-94655.
    STRINGi9606.ENSP00000365891.

    Structurei

    Secondary structure

    1
    502
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Turni235 – 2373
    Beta strandi245 – 2506
    Turni254 – 2563
    Turni260 – 2623
    Helixi265 – 2717
    Turni272 – 2754
    Helixi278 – 2814
    Helixi284 – 29613
    Helixi299 – 30911
    Helixi432 – 4409
    Turni462 – 4654
    Helixi466 – 4738
    Helixi474 – 4774

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1CEENMR-B230-288[»]
    1EJ5NMR-A242-310[»]
    A461-492[»]
    1T84NMR-A242-310[»]
    A461-492[»]
    2A3ZX-ray2.08C430-458[»]
    2K42NMR-A242-310[»]
    2OT0X-ray2.05E/F/G/H488-502[»]
    DisProtiDP00215.
    ProteinModelPortaliP42768.
    SMRiP42768. Positions 35-157, 242-309, 464-492.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP42768.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini39 – 148110WH1PROSITE-ProRule annotationAdd
    BLAST
    Domaini238 – 25114CRIBPROSITE-ProRule annotationAdd
    BLAST
    Repeati337 – 34610GRSGPLPPXP motif 1
    Repeati376 – 38510GRSGPLPPXP motif 2
    Domaini430 – 44718WH2PROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi160 – 1656Poly-Pro
    Compositional biasi312 – 3198Poly-Pro
    Compositional biasi351 – 3566Poly-Pro
    Compositional biasi359 – 3624Poly-Pro
    Compositional biasi367 – 3737Poly-Pro
    Compositional biasi380 – 3867Poly-Pro
    Compositional biasi391 – 40414Poly-ProAdd
    BLAST
    Compositional biasi485 – 50218Asp/Glu-rich (acidic)Add
    BLAST

    Domaini

    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.

    Sequence similaritiesi

    Contains 1 CRIB domain.PROSITE-ProRule annotation
    Contains 1 WH1 domain.PROSITE-ProRule annotation
    Contains 1 WH2 domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG270974.
    HOGENOMiHOG000143378.
    HOVERGENiHBG000222.
    InParanoidiP42768.
    KOiK05747.
    OMAiTPANEER.
    PhylomeDBiP42768.
    TreeFamiTF316736.

    Family and domain databases

    Gene3Di2.30.29.30. 1 hit.
    3.90.810.10. 2 hits.
    InterProiIPR000095. CRIB_dom.
    IPR011993. PH_like_dom.
    IPR027641. WASP.
    IPR011026. WASP_C.
    IPR000697. WH1/EVH1.
    IPR003124. WH2_dom.
    [Graphical view]
    PANTHERiPTHR12779:SF2. PTHR12779:SF2. 1 hit.
    PfamiPF00786. PBD. 1 hit.
    PF00568. WH1. 1 hit.
    PF02205. WH2. 1 hit.
    [Graphical view]
    SMARTiSM00285. PBD. 1 hit.
    SM00461. WH1. 1 hit.
    SM00246. WH2. 1 hit.
    [Graphical view]
    SUPFAMiSSF47912. SSF47912. 2 hits.
    PROSITEiPS50108. CRIB. 1 hit.
    PS50229. WH1. 1 hit.
    PS51082. WH2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P42768-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSGGPMGGRP GGRGAPAVQQ NIPSTLLQDH ENQRLFEMLG RKCLTLATAV    50
    VQLYLALPPG AEHWTKEHCG AVCFVKDNPQ KSYFIRLYGL QAGRLLWEQE 100
    LYSQLVYSTP TPFFHTFAGD DCQAGLNFAD EDEAQAFRAL VQEKIQKRNQ 150
    RQSGDRRQLP PPPTPANEER RGGLPPLPLH PGGDQGGPPV GPLSLGLATV 200
    DIQNPDITSS RYRGLPAPGP SPADKKRSGK KKISKADIGA PSGFKHVSHV 250
    GWDPQNGFDV NNLDPDLRSL FSRAGISEAQ LTDAETSKLI YDFIEDQGGL 300
    EAVRQEMRRQ EPLPPPPPPS RGGNQLPRPP IVGGNKGRSG PLPPVPLGIA 350
    PPPPTPRGPP PPGRGGPPPP PPPATGRSGP LPPPPPGAGG PPMPPPPPPP 400
    PPPPSSGNGP APPPLPPALV PAGGLAPGGG RGALLDQIRQ GIQLNKTPGA 450
    PESSALQPPP QSSEGLVGAL MHVMQKRSRA IHSSDEGEDQ AGDEDEDDEW 500
    DD 502
    Length:502
    Mass (Da):52,913
    Last modified:January 23, 2007 - v4
    Checksum:i7228428672B7CB78
    GO

    Sequence cautioni

    The sequence AAH02961.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti332 – 3321V → A in AAD26691. (PubMed:10066431)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271L → F in THC1. 1 Publication
    VAR_005823
    Natural varianti30 – 301Missing in THC1. 1 Publication
    VAR_005824
    Natural varianti31 – 311E → K in WAS. 2 Publications
    VAR_005825
    Natural varianti43 – 431C → W in WAS; moderate form. 2 Publications
    VAR_008105
    Natural varianti45 – 451T → M in WAS and THC1. 4 Publications
    VAR_008106
    Natural varianti48 – 481T → I in THC1. 1 Publication
    VAR_005826
    Natural varianti52 – 521Q → H in WAS. 1 Publication
    VAR_012710
    Natural varianti56 – 561A → V in THC1. 2 Publications
    VAR_005827
    Natural varianti58 – 581P → L in WAS. 1 Publication
    VAR_022806
    Natural varianti58 – 581P → R in THC1. 1 Publication
    Corresponds to variant rs28935178 [ dbSNP | Ensembl ].
    VAR_033255
    Natural varianti70 – 701G → W in WAS. 1 Publication
    VAR_012711
    Natural varianti73 – 731C → R in WAS; severe form. 1 Publication
    VAR_008107
    Natural varianti75 – 751V → M in THC1. 5 Publications
    VAR_005828
    Natural varianti82 – 821S → P in WAS; attenuated form. 1 Publication
    VAR_005829
    Natural varianti83 – 831Y → C in THC1. 1 Publication
    VAR_008108
    Natural varianti84 – 841F → L in WAS; severe form. 1 Publication
    VAR_008109
    Natural varianti86 – 861R → C in WAS. 3 Publications
    VAR_005832
    Natural varianti86 – 861R → H in WAS. 3 Publications
    VAR_005830
    Natural varianti86 – 861R → L in WAS. 1 Publication
    VAR_005831
    Natural varianti89 – 891G → D in WAS; mild form. 1 Publication
    VAR_008110
    Natural varianti97 – 971W → C in WAS; attenuated form. 1 Publication
    VAR_005833
    Natural varianti131 – 1311E → K in WAS. 1 Publication
    Corresponds to variant rs146220228 [ dbSNP | Ensembl ].
    VAR_005834
    Natural varianti133 – 1331E → K in WAS; severe form. 5 Publications
    VAR_005835
    Natural varianti134 – 1341A → T in WAS. 1 Publication
    VAR_022807
    Natural varianti187 – 1871G → C in WAS. 1 Publication
    VAR_005836
    Natural varianti236 – 2361A → E in THC1. 1 Publication
    VAR_005837
    Natural varianti270 – 2701L → P in XLN; a constitutively activating mutation. 1 Publication
    Corresponds to variant rs28936079 [ dbSNP | Ensembl ].
    VAR_033256
    Natural varianti476 – 4761K → E in WAS. 1 Publication
    VAR_005838
    Natural varianti477 – 4771R → K in THC1. 1 Publication
    VAR_005839
    Natural varianti481 – 4811I → N in THC1. 1 Publication
    VAR_033257

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS14303.1.
    PIRiA54747. A55197.
    RefSeqiNP_000368.1. NM_000377.2.
    UniGeneiHs.2157.

    Genome annotation databases

    EnsembliENST00000376701; ENSP00000365891; ENSG00000015285.
    GeneIDi7454.
    KEGGihsa:7454.
    UCSCiuc004dkm.4. human.

    Cross-referencesi

    Web resourcesi

    WASbase

    WAS mutation db

    WASPbase

    WAS mutation db

    Wikipedia

    Wiskott-Aldrich syndrome protein entry

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS14303.1.
    PIRi A54747. A55197.
    RefSeqi NP_000368.1. NM_000377.2.
    UniGenei Hs.2157.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1CEE NMR - B 230-288 [» ]
    1EJ5 NMR - A 242-310 [» ]
    A 461-492 [» ]
    1T84 NMR - A 242-310 [» ]
    A 461-492 [» ]
    2A3Z X-ray 2.08 C 430-458 [» ]
    2K42 NMR - A 242-310 [» ]
    2OT0 X-ray 2.05 E/F/G/H 488-502 [» ]
    DisProti DP00215.
    ProteinModelPortali P42768.
    SMRi P42768. Positions 35-157, 242-309, 464-492.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113293. 54 interactions.
    DIPi DIP-431N.
    IntActi P42768. 37 interactions.
    MINTi MINT-94655.
    STRINGi 9606.ENSP00000365891.

    PTM databases

    PhosphoSitei P42768.

    Proteomic databases

    MaxQBi P42768.
    PaxDbi P42768.
    PRIDEi P42768.

    Protocols and materials databases

    DNASUi 7454.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000376701 ; ENSP00000365891 ; ENSG00000015285 .
    GeneIDi 7454.
    KEGGi hsa:7454.
    UCSCi uc004dkm.4. human.

    Organism-specific databases

    CTDi 7454.
    GeneCardsi GC0XP048534.
    GeneReviewsi WAS.
    HGNCi HGNC:12731. WAS.
    HPAi CAB004290.
    HPA002022.
    MIMi 300299. phenotype.
    300392. gene.
    301000. phenotype.
    313900. phenotype.
    neXtProti NX_P42768.
    Orphaneti 906. Wiskott-Aldrich syndrome.
    86788. X-linked severe congenital neutropenia.
    852. X-linked thrombocytopenia with normal platelets.
    PharmGKBi PA37342.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG270974.
    HOGENOMi HOG000143378.
    HOVERGENi HBG000222.
    InParanoidi P42768.
    KOi K05747.
    OMAi TPANEER.
    PhylomeDBi P42768.
    TreeFami TF316736.

    Enzyme and pathway databases

    Reactomei REACT_12623. Generation of second messenger molecules.
    REACT_160086. Regulation of actin dynamics for phagocytic cup formation.

    Miscellaneous databases

    ChiTaRSi WAS. human.
    EvolutionaryTracei P42768.
    GeneWikii Wiskott%E2%80%93Aldrich_syndrome_protein.
    GenomeRNAii 7454.
    NextBioi 29188.
    PROi P42768.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P42768.
    Bgeei P42768.
    CleanExi HS_WAS.
    Genevestigatori P42768.

    Family and domain databases

    Gene3Di 2.30.29.30. 1 hit.
    3.90.810.10. 2 hits.
    InterProi IPR000095. CRIB_dom.
    IPR011993. PH_like_dom.
    IPR027641. WASP.
    IPR011026. WASP_C.
    IPR000697. WH1/EVH1.
    IPR003124. WH2_dom.
    [Graphical view ]
    PANTHERi PTHR12779:SF2. PTHR12779:SF2. 1 hit.
    Pfami PF00786. PBD. 1 hit.
    PF00568. WH1. 1 hit.
    PF02205. WH2. 1 hit.
    [Graphical view ]
    SMARTi SM00285. PBD. 1 hit.
    SM00461. WH1. 1 hit.
    SM00246. WH2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47912. SSF47912. 2 hits.
    PROSITEi PS50108. CRIB. 1 hit.
    PS50229. WH1. 1 hit.
    PS51082. WH2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
      Cited for: FUNCTION, PHOSPHORYLATION AT TYR-291 BY HCK, IDENTIFICATION BY MASS SPECTROMETRY, INTERACTION WITH HCK.
    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] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT SER-483 AND SER-484, INTERACTION WITH THE ARP2/3 COMPLEX.
    12. "Fyn and PTP-PEST-mediated regulation of Wiskott-Aldrich syndrome protein (WASp) tyrosine phosphorylation is required for coupling T cell antigen receptor engagement to WASp effector function and T cell activation."
      Badour K., Zhang J., Shi F., Leng Y., Collins M., Siminovitch K.A.
      J. Exp. Med. 199:99-112(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT TYR-291 BY FYN.
    13. "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] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-291, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    14. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-291; SER-483 AND SER-484, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Platelet.
    15. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-291; SER-483 AND SER-484, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    16. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    17. "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] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 230-288 IN COMPLEX WITH CDC42.
    18. "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] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 242-492, CONFORMATION CHANGE.
    19. "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] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 242-310 IN COMPLEX WITH WISKOSTATIN.
    20. "Actin-bound structures of Wiskott-Aldrich syndrome protein (WASP)-homology domain 2 and the implications for filament assembly."
      Chereau D., Kerff F., Graceffa P., Grabarek Z., Langsetmo K., Dominguez R.
      Proc. Natl. Acad. Sci. U.S.A. 102:16644-16649(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.08 ANGSTROMS) OF 430-458 IN COMPLEX WITH ACTIN, FUNCTION, SUBUNIT.
    21. "A hydrophobic pocket in the active site of glycolytic aldolase mediates interactions with Wiskott-Aldrich syndrome protein."
      St-Jean M., Izard T., Sygusch J.
      J. Biol. Chem. 282:14309-14315(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.05 ANGSTROMS) OF 488-502 IN COMPLEX WITH ALDOA.
    22. "Structural mechanism of WASP activation by the enterohaemorrhagic E. coli effector EspF(U)."
      Cheng H.C., Skehan B.M., Campellone K.G., Leong J.M., Rosen M.K.
      Nature 454:1009-1013(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 242-310, FUNCTION, INTERACTION WITH E.COLI ESPF(U).
    23. "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] [Europe PMC] [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.
    24. "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] [Europe PMC] [Abstract]
      Cited for: VARIANTS THC1 PHE-27; ILE-48 AND LYS-477, VARIANTS WAS MET-75; LEU-86; HIS-86; LYS-131 AND CYS-187.
    25. "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] [Europe PMC] [Abstract]
      Cited for: VARIANTS THC1 VAL-56 AND GLU-236.
    26. "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] [Europe PMC] [Abstract]
      Cited for: VARIANT WAS HIS-86.
    27. "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] [Europe PMC] [Abstract]
      Cited for: VARIANTS WAS TRP-43; MET-45; MET-75 AND CYS-86.
    28. "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] [Europe PMC] [Abstract]
      Cited for: VARIANTS WAS LYS-31 AND MET-45.
    29. "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] [Europe PMC] [Abstract]
      Cited for: VARIANTS WAS MET-75; LEU-84; ASP-89 AND LYS-133.
    30. "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] [Europe PMC] [Abstract]
      Cited for: VARIANT WAS VAL-56.
    31. Cited for: VARIANT WAS LYS-133.
    32. "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] [Europe PMC] [Abstract]
      Cited for: VARIANT THC1 MET-45.
    33. Cited for: VARIANT XLN PRO-270, CHARACTERIZATION OF VARIANT XLN PRO-270.
    34. "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] [Europe PMC] [Abstract]
      Cited for: VARIANTS WAS ARG-73; CYS-86 AND LYS-133, VARIANTS THC1 MET-75 AND CYS-83.
    35. "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] [Europe PMC] [Abstract]
      Cited for: VARIANTS THC1 ARG-58 AND ASN-481.
    36. "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] [Europe PMC] [Abstract]
      Cited for: VARIANTS WAS HIS-52 AND TRP-70.

    Entry informationi

    Entry nameiWASP_HUMAN
    AccessioniPrimary (citable) accession number: P42768
    Secondary accession number(s): Q9BU11, Q9UNJ9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 175 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome X
      Human chromosome X: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3