Skip Header

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

Wiskott-Aldrich syndrome protein

Gene

WAS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • GTPase regulator activity Source: ProtInc
  • identical protein binding Source: IntAct
  • phospholipase binding Source: BHF-UCL
  • protein kinase binding Source: BHF-UCL
  • SH3 domain binding Source: BHF-UCL

GO - Biological processi

  • actin filament-based movement Source: Ensembl
  • actin filament polymerization Source: Ensembl
  • actin polymerization or depolymerization Source: ProtInc
  • blood coagulation Source: ProtInc
  • defense response Source: ProtInc
  • endosomal transport Source: Ensembl
  • epidermis development Source: ProtInc
  • Fc-gamma receptor signaling pathway involved in phagocytosis Source: Reactome
  • immune response Source: HGNC
  • negative regulation of cell motility Source: CACAO
  • positive regulation of Arp2/3 complex-mediated actin nucleation Source: InterPro
  • protein complex assembly Source: ProtInc
  • regulation of T cell antigen processing and presentation Source: CACAO
  • T cell activation Source: Ensembl
  • T cell receptor signaling pathway Source: Reactome
Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-202433. Generation of second messenger molecules.
R-HSA-2029482. Regulation of actin dynamics for phagocytic cup formation.
R-HSA-5663213. RHO GTPases Activate WASPs and WAVEs.
SIGNORiP42768.

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
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:12731. WAS.

Subcellular locationi

GO - Cellular componenti

  • actin cytoskeleton Source: ProtInc
  • cell-cell junction Source: Ensembl
  • cytosol Source: Reactome
  • extracellular exosome Source: UniProtKB
  • vesicle membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Wiskott-Aldrich syndrome (WAS)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10.
See also OMIM:301000
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
Corresponds to variant rs132630273 [ dbSNP | Ensembl ].
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
Corresponds to variant rs132630272 [ dbSNP | Ensembl ].
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
Corresponds to variant rs132630268 [ dbSNP | Ensembl ].
VAR_005830
Natural varianti86 – 861R → L in WAS. 1 Publication
Corresponds to variant rs132630268 [ dbSNP | Ensembl ].
VAR_005831
Natural varianti89 – 891G → D in WAS; mild form. 1 Publication
Corresponds to variant rs139857045 [ dbSNP | Ensembl ].
VAR_008110
Natural varianti97 – 971W → C in WAS; attenuated form. 1 Publication
VAR_005833
Natural varianti131 – 1311E → K in WAS; found in a patient with MRT52. 2 Publications
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)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThrombocytopenia 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.
See also OMIM:313900
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
Corresponds to variant rs132630273 [ dbSNP | Ensembl ].
VAR_008106
Natural varianti48 – 481T → I in THC1. 1 Publication
VAR_005826
Natural varianti56 – 561A → T Found in a patient with THC1; unknown pathological significance. 1 Publication
VAR_074020
Natural varianti56 – 561A → V in THC1. 2 Publications
Corresponds to variant rs132630269 [ dbSNP | Ensembl ].
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
Corresponds to variant rs782290433 [ dbSNP | Ensembl ].
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
Corresponds to variant rs132630276 [ dbSNP | Ensembl ].
VAR_033257
Neutropenia, severe congenital, X-linked (XLN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:300299
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

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

Polymorphism and mutation databases

BioMutaiWAS.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemoved1 Publication
Chaini2 – 502501Wiskott-Aldrich syndrome proteinPRO_0000188990Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei221 – 2211PhosphoserineCombined sources
Modified residuei291 – 2911Phosphotyrosine; by FYN and HCKCombined sources2 Publications
Modified residuei483 – 4831Phosphoserine; by CK2Combined sources1 Publication
Modified residuei484 – 4841Phosphoserine; by CK2Combined sources1 Publication

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

EPDiP42768.
MaxQBiP42768.
PaxDbiP42768.
PeptideAtlasiP42768.
PRIDEiP42768.

PTM databases

iPTMnetiP42768.
PhosphoSiteiP42768.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000015285.
CleanExiHS_WAS.
ExpressionAtlasiP42768. baseline and differential.
GenevisibleiP42768. HS.

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
ABI3Q9P2A44EBI-346375,EBI-742038
APPBP2Q926243EBI-346375,EBI-743771
BTKQ061874EBI-346375,EBI-624835
CDC42P6095310EBI-346375,EBI-81752
CTTNQ142473EBI-346375,EBI-351886
HCKP086319EBI-346375,EBI-346340
HckP081033EBI-346375,EBI-6248894From a different organism.
NCK2O436393EBI-346375,EBI-713635
SNX33Q8WV413EBI-346375,EBI-2481535
SORBS2O948753EBI-346375,EBI-311323
WIPF1O4351616EBI-346375,EBI-346356

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • phospholipase binding Source: BHF-UCL
  • protein kinase binding Source: BHF-UCL
  • SH3 domain binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi113293. 63 interactions.
DIPiDIP-431N.
IntActiP42768. 46 interactions.
MINTiMINT-94655.
STRINGi9606.ENSP00000365891.

Structurei

Secondary structure

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

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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

eggNOGiKOG3671. Eukaryota.
ENOG4111M1J. LUCA.
GeneTreeiENSGT00730000110895.
HOGENOMiHOG000143378.
HOVERGENiHBG000222.
InParanoidiP42768.
KOiK05747.
OMAiGPGVQQN.
OrthoDBiEOG091G0VCD.
PhylomeDBiP42768.
TreeFamiTF316736.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
3.90.810.10. 2 hits.
InterProiIPR000095. CRIB_dom.
IPR011993. PH_dom-like.
IPR027641. WASP.
IPR011026. WASP_C.
IPR000697. WH1/EVH1_dom.
IPR003124. WH2_dom.
[Graphical view]
PANTHERiPTHR23202:SF35. PTHR23202:SF35. 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.
SSF50729. SSF50729. 1 hit.
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

        10         20         30         40         50
MSGGPMGGRP GGRGAPAVQQ NIPSTLLQDH ENQRLFEMLG RKCLTLATAV
60 70 80 90 100
VQLYLALPPG AEHWTKEHCG AVCFVKDNPQ KSYFIRLYGL QAGRLLWEQE
110 120 130 140 150
LYSQLVYSTP TPFFHTFAGD DCQAGLNFAD EDEAQAFRAL VQEKIQKRNQ
160 170 180 190 200
RQSGDRRQLP PPPTPANEER RGGLPPLPLH PGGDQGGPPV GPLSLGLATV
210 220 230 240 250
DIQNPDITSS RYRGLPAPGP SPADKKRSGK KKISKADIGA PSGFKHVSHV
260 270 280 290 300
GWDPQNGFDV NNLDPDLRSL FSRAGISEAQ LTDAETSKLI YDFIEDQGGL
310 320 330 340 350
EAVRQEMRRQ EPLPPPPPPS RGGNQLPRPP IVGGNKGRSG PLPPVPLGIA
360 370 380 390 400
PPPPTPRGPP PPGRGGPPPP PPPATGRSGP LPPPPPGAGG PPMPPPPPPP
410 420 430 440 450
PPPPSSGNGP APPPLPPALV PAGGLAPGGG RGALLDQIRQ GIQLNKTPGA
460 470 480 490 500
PESSALQPPP QSSEGLVGAL MHVMQKRSRA IHSSDEGEDQ AGDEDEDDEW

DD
Length:502
Mass (Da):52,913
Last modified:January 23, 2007 - v4
Checksum:i7228428672B7CB78
GO

Sequence cautioni

The sequence AAH02961 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAH02961 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

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
Corresponds to variant rs132630273 [ dbSNP | Ensembl ].
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 → T Found in a patient with THC1; unknown pathological significance. 1 Publication
VAR_074020
Natural varianti56 – 561A → V in THC1. 2 Publications
Corresponds to variant rs132630269 [ dbSNP | Ensembl ].
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
Corresponds to variant rs782290433 [ dbSNP | Ensembl ].
VAR_005828
Natural varianti82 – 821S → P in WAS; attenuated form. 1 Publication
Corresponds to variant rs132630272 [ dbSNP | Ensembl ].
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
Corresponds to variant rs132630268 [ dbSNP | Ensembl ].
VAR_005830
Natural varianti86 – 861R → L in WAS. 1 Publication
Corresponds to variant rs132630268 [ dbSNP | Ensembl ].
VAR_005831
Natural varianti89 – 891G → D in WAS; mild form. 1 Publication
Corresponds to variant rs139857045 [ dbSNP | Ensembl ].
VAR_008110
Natural varianti97 – 971W → C in WAS; attenuated form. 1 Publication
VAR_005833
Natural varianti131 – 1311E → K in WAS; found in a patient with MRT52. 2 Publications
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
Corresponds to variant rs132630276 [ dbSNP | Ensembl ].
VAR_033257

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.5. 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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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...

Protein-protein interaction databases

BioGridi113293. 63 interactions.
DIPiDIP-431N.
IntActiP42768. 46 interactions.
MINTiMINT-94655.
STRINGi9606.ENSP00000365891.

PTM databases

iPTMnetiP42768.
PhosphoSiteiP42768.

Polymorphism and mutation databases

BioMutaiWAS.

Proteomic databases

EPDiP42768.
MaxQBiP42768.
PaxDbiP42768.
PeptideAtlasiP42768.
PRIDEiP42768.

Protocols and materials databases

DNASUi7454.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000376701; ENSP00000365891; ENSG00000015285.
GeneIDi7454.
KEGGihsa:7454.
UCSCiuc004dkm.5. human.

Organism-specific databases

CTDi7454.
GeneCardsiWAS.
GeneReviewsiWAS.
HGNCiHGNC:12731. WAS.
HPAiCAB004290.
HPA002022.
MalaCardsiWAS.
MIMi300299. phenotype.
300392. gene.
301000. phenotype.
313900. phenotype.
neXtProtiNX_P42768.
Orphaneti906. Wiskott-Aldrich syndrome.
86788. X-linked severe congenital neutropenia.
852. X-linked thrombocytopenia with normal platelets.
PharmGKBiPA37342.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3671. Eukaryota.
ENOG4111M1J. LUCA.
GeneTreeiENSGT00730000110895.
HOGENOMiHOG000143378.
HOVERGENiHBG000222.
InParanoidiP42768.
KOiK05747.
OMAiGPGVQQN.
OrthoDBiEOG091G0VCD.
PhylomeDBiP42768.
TreeFamiTF316736.

Enzyme and pathway databases

ReactomeiR-HSA-202433. Generation of second messenger molecules.
R-HSA-2029482. Regulation of actin dynamics for phagocytic cup formation.
R-HSA-5663213. RHO GTPases Activate WASPs and WAVEs.
SIGNORiP42768.

Miscellaneous databases

ChiTaRSiWAS. human.
EvolutionaryTraceiP42768.
GeneWikiiWiskott%E2%80%93Aldrich_syndrome_protein.
GenomeRNAii7454.
PROiP42768.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000015285.
CleanExiHS_WAS.
ExpressionAtlasiP42768. baseline and differential.
GenevisibleiP42768. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
3.90.810.10. 2 hits.
InterProiIPR000095. CRIB_dom.
IPR011993. PH_dom-like.
IPR027641. WASP.
IPR011026. WASP_C.
IPR000697. WH1/EVH1_dom.
IPR003124. WH2_dom.
[Graphical view]
PANTHERiPTHR23202:SF35. PTHR23202:SF35. 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.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50108. CRIB. 1 hit.
PS50229. WH1. 1 hit.
PS51082. WH2. 1 hit.
[Graphical view]
ProtoNetiSearch...

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 7, 2016
This is version 196 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.