SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

P42768

- WASP_HUMAN

UniProt

P42768 - WASP_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Wiskott-Aldrich syndrome protein

Gene
WAS, IMD2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.11 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.5 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.3 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).6 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.

Miscellaneous databases

EvolutionaryTraceiP42768.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini39 – 148110WH1Add
BLAST
Domaini238 – 25114CRIBAdd
BLAST
Repeati337 – 34610GRSGPLPPXP motif 1
Repeati376 – 38510GRSGPLPPXP motif 2
Domaini430 – 44718WH2Add
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.
Contains 1 WH1 domain.
Contains 1 WH2 domain.

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.

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 conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti332 – 3321V → A in AAD26691. 1 Publication

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.
ENST00000599235; ENSP00000469374; ENSG00000267912.
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 .
ENST00000599235 ; ENSP00000469374 ; ENSG00000267912 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 174 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

Similar proteinsi