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Protein

Wiskott-Aldrich syndrome protein

Gene

WAS

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Effector protein for Rho-type GTPases that regulates actin filament reorganization via its interaction with the Arp2/3 complex (PubMed:12235133, PubMed:12769847, PubMed:16275905). Important for efficient actin polymerization (PubMed:8625410, PubMed:12235133, PubMed:16275905). Possible regulator of lymphocyte and platelet function (PubMed:9405671). Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria (PubMed:18650809). In addition to its role in the cytoplasmic cytoskeleton, also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:20574068). Promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947).8 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • actin filament binding Source: GO_Central
  • GTPase regulator activity Source: ProtInc
  • identical protein binding Source: IntAct
  • phospholipase binding Source: BHF-UCL
  • protein kinase binding Source: BHF-UCL
  • Rac GTPase binding Source: CAFA
  • SH3 domain binding Source: UniProtKB
  • small GTPase binding Source: CAFA

GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-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

SIGNOR Signaling Network Open Resource

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SIGNORi
P42768

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Wiskott-Aldrich syndrome protein
Short name:
WASp
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:WAS
Synonyms:IMD2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000015285.10

Human Gene Nomenclature Database

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HGNCi
HGNC:12731 WAS

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300392 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P42768

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Wiskott-Aldrich syndrome (WAS)12 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)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00582531E → K in WAS. 2 Publications1
Natural variantiVAR_00810543C → W in WAS; moderate form. 2 Publications1
Natural variantiVAR_01271052Q → H in WAS. 1 Publication1
Natural variantiVAR_02280658P → L in WAS. 1 Publication1
Natural variantiVAR_01271170G → W in WAS. 1 Publication1
Natural variantiVAR_00810773C → R in WAS; severe form. 1 Publication1
Natural variantiVAR_00582982S → P in WAS; attenuated form. 1 PublicationCorresponds to variant dbSNP:rs132630272EnsemblClinVar.1
Natural variantiVAR_00810984F → L in WAS; severe form. 1 Publication1
Natural variantiVAR_00583286R → C in WAS. 3 Publications1
Natural variantiVAR_00583086R → H in WAS. 3 PublicationsCorresponds to variant dbSNP:rs132630268EnsemblClinVar.1
Natural variantiVAR_00583186R → L in WAS. 1 PublicationCorresponds to variant dbSNP:rs132630268EnsemblClinVar.1
Natural variantiVAR_00811089G → D in WAS; mild form. 1 PublicationCorresponds to variant dbSNP:rs139857045Ensembl.1
Natural variantiVAR_00583397W → C in WAS; attenuated form. 1 Publication1
Natural variantiVAR_005834131E → K in WAS; found in a patient with MRT52. 2 PublicationsCorresponds to variant dbSNP:rs146220228EnsemblClinVar.1
Natural variantiVAR_005835133E → K in WAS; severe form. 5 Publications1
Natural variantiVAR_022807134A → T in WAS. 1 Publication1
Natural variantiVAR_005836187G → C in WAS. 1 Publication1
Natural variantiVAR_005838476K → E in WAS. 1 Publication1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_00582327L → F in THC1. 1 Publication1
Natural variantiVAR_00582430Missing in THC1. 1 Publication1
Natural variantiVAR_00582648T → I in THC1. 1 Publication1
Natural variantiVAR_00582756A → V in THC1. 2 PublicationsCorresponds to variant dbSNP:rs132630269EnsemblClinVar.1
Natural variantiVAR_03325558P → R in THC1. 1 PublicationCorresponds to variant dbSNP:rs132630275EnsemblClinVar.1
Natural variantiVAR_00582875V → M in THC1. 5 PublicationsCorresponds to variant dbSNP:rs782290433EnsemblClinVar.1
Natural variantiVAR_00810883Y → C in THC1. 1 Publication1
Natural variantiVAR_005837236A → E in THC1. 1 Publication1
Natural variantiVAR_005839477R → K in THC1. 1 Publication1
Natural variantiVAR_033257481I → N in THC1. 1 PublicationCorresponds to variant dbSNP:rs132630276EnsemblClinVar.1
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)DescriptionActionsGraphical viewLength
Natural variantiVAR_033256270L → P in XLN; a constitutively activating mutation. 1 PublicationCorresponds to variant dbSNP:rs132630274EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
7454

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
WAS

MalaCards human disease database

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MalaCardsi
WAS
MIMi300299 phenotype
301000 phenotype
313900 phenotype

Open Targets

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OpenTargetsi
ENSG00000015285

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
906 Wiskott-Aldrich syndrome
86788 X-linked severe congenital neutropenia
852 X-linked thrombocytopenia with normal platelets

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA37342

Chemistry databases

Drug and drug target database

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DrugBanki
DB01731 (S)-Wiskostatin

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
WAS

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001889902 – 502Wiskott-Aldrich syndrome proteinAdd BLAST501

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei221PhosphoserineCombined sources1
Modified residuei291Phosphotyrosine; by FYN and HCKCombined sources2 Publications1
Modified residuei483Phosphoserine; by CK2Combined sources1 Publication1
Modified residuei484Phosphoserine; by CK2Combined sources1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

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EPDi
P42768

MaxQB - The MaxQuant DataBase

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MaxQBi
P42768

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P42768

PeptideAtlas

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PeptideAtlasi
P42768

PRoteomics IDEntifications database

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PRIDEi
P42768

ProteomicsDB human proteome resource

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ProteomicsDBi
55550

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P42768

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P42768

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000015285 Expressed in 202 organ(s), highest expression level in blood

CleanEx database of gene expression profiles

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CleanExi
HS_WAS

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P42768 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P42768 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB004290
HPA002022

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Binds the Arp2/3 complex (PubMed:12769847). Interacts with CDC42, RAC, NCK, HCK, FYN, SRC kinase FGR, BTK, ABL1, PSTPIP1, WIP, and to the p85 subunit of PLC-gamma (PubMed:8643625, PubMed:9405671, PubMed:12235133, PubMed:10360578, PubMed:15235593). Interacts (via C-terminus) with ALDOA (PubMed:17329259). Interacts with NCK1 (via SH3 domains) (By similarity).By similarity7 Publications
(Microbial infection) Interacts with E.coli effector protein EspF(U).1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
113293, 63 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P42768

Database of interacting proteins

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DIPi
DIP-431N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
P42768

Protein interaction database and analysis system

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IntActi
P42768, 48 interactors

Molecular INTeraction database

More...
MINTi
P42768

STRING: functional protein association networks

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STRINGi
9606.ENSP00000365891

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1502
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P42768

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P42768

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P42768

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini39 – 148WH1PROSITE-ProRule annotationAdd BLAST110
Domaini238 – 251CRIBPROSITE-ProRule annotationAdd BLAST14
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati337 – 346GRSGPLPPXP motif 110
Repeati376 – 385GRSGPLPPXP motif 210
Domaini430 – 447WH2PROSITE-ProRule annotationAdd BLAST18

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi160 – 165Poly-Pro6
Compositional biasi312 – 319Poly-Pro8
Compositional biasi351 – 356Poly-Pro6
Compositional biasi359 – 362Poly-Pro4
Compositional biasi367 – 373Poly-Pro7
Compositional biasi380 – 386Poly-Pro7
Compositional biasi391 – 404Poly-ProAdd BLAST14
Compositional biasi485 – 502Asp/Glu-rich (acidic)Add BLAST18

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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.

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3671 Eukaryota
ENOG4111M1J LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00730000110895

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000143378

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG000222

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P42768

KEGG Orthology (KO)

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KOi
K05747

Identification of Orthologs from Complete Genome Data

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OMAi
FAADDCQ

Database of Orthologous Groups

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OrthoDBi
EOG091G0VCD

Database for complete collections of gene phylogenies

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PhylomeDBi
P42768

TreeFam database of animal gene trees

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TreeFami
TF316736

Family and domain databases

Conserved Domains Database

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CDDi
cd00132 CRIB, 1 hit
cd01205 EVH1_WASP-like, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.30.29.30, 1 hit
3.90.810.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000095 CRIB_dom
IPR036936 CRIB_dom_sf
IPR011993 PH-like_dom_sf
IPR027641 WASP
IPR011026 WASP_C
IPR033927 WASPfam_EVH1
IPR000697 WH1/EVH1_dom
IPR003124 WH2_dom

The PANTHER Classification System

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PANTHERi
PTHR23202:SF35 PTHR23202:SF35, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00786 PBD, 1 hit
PF00568 WH1, 1 hit
PF02205 WH2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00285 PBD, 1 hit
SM00461 WH1, 1 hit
SM00246 WH2, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47912 SSF47912, 2 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50108 CRIB, 1 hit
PS50229 WH1, 1 hit
PS51082 WH2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7228428672B7CB78
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J3B7C9J3B7_HUMAN
Wiskott-Aldrich syndrome protein
WAS
216Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti332V → A in AAD26691 (PubMed:10066431).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00582327L → F in THC1. 1 Publication1
Natural variantiVAR_00582430Missing in THC1. 1 Publication1
Natural variantiVAR_00582531E → K in WAS. 2 Publications1
Natural variantiVAR_00810543C → W in WAS; moderate form. 2 Publications1
Natural variantiVAR_00810645T → M in WAS and THC1. 4 PublicationsCorresponds to variant dbSNP:rs132630273EnsemblClinVar.1
Natural variantiVAR_00582648T → I in THC1. 1 Publication1
Natural variantiVAR_01271052Q → H in WAS. 1 Publication1
Natural variantiVAR_07402056A → T Found in a patient with THC1; unknown pathological significance. 1 Publication1
Natural variantiVAR_00582756A → V in THC1. 2 PublicationsCorresponds to variant dbSNP:rs132630269EnsemblClinVar.1
Natural variantiVAR_02280658P → L in WAS. 1 Publication1
Natural variantiVAR_03325558P → R in THC1. 1 PublicationCorresponds to variant dbSNP:rs132630275EnsemblClinVar.1
Natural variantiVAR_01271170G → W in WAS. 1 Publication1
Natural variantiVAR_00810773C → R in WAS; severe form. 1 Publication1
Natural variantiVAR_00582875V → M in THC1. 5 PublicationsCorresponds to variant dbSNP:rs782290433EnsemblClinVar.1
Natural variantiVAR_00582982S → P in WAS; attenuated form. 1 PublicationCorresponds to variant dbSNP:rs132630272EnsemblClinVar.1
Natural variantiVAR_00810883Y → C in THC1. 1 Publication1
Natural variantiVAR_00810984F → L in WAS; severe form. 1 Publication1
Natural variantiVAR_00583286R → C in WAS. 3 Publications1
Natural variantiVAR_00583086R → H in WAS. 3 PublicationsCorresponds to variant dbSNP:rs132630268EnsemblClinVar.1
Natural variantiVAR_00583186R → L in WAS. 1 PublicationCorresponds to variant dbSNP:rs132630268EnsemblClinVar.1
Natural variantiVAR_00811089G → D in WAS; mild form. 1 PublicationCorresponds to variant dbSNP:rs139857045Ensembl.1
Natural variantiVAR_00583397W → C in WAS; attenuated form. 1 Publication1
Natural variantiVAR_005834131E → K in WAS; found in a patient with MRT52. 2 PublicationsCorresponds to variant dbSNP:rs146220228EnsemblClinVar.1
Natural variantiVAR_005835133E → K in WAS; severe form. 5 Publications1
Natural variantiVAR_022807134A → T in WAS. 1 Publication1
Natural variantiVAR_005836187G → C in WAS. 1 Publication1
Natural variantiVAR_005837236A → E in THC1. 1 Publication1
Natural variantiVAR_033256270L → P in XLN; a constitutively activating mutation. 1 PublicationCorresponds to variant dbSNP:rs132630274EnsemblClinVar.1
Natural variantiVAR_005838476K → E in WAS. 1 Publication1
Natural variantiVAR_005839477R → K in THC1. 1 Publication1
Natural variantiVAR_033257481I → N in THC1. 1 PublicationCorresponds to variant dbSNP:rs132630276EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

The Consensus CDS (CCDS) project

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CCDSi
CCDS14303.1

Protein sequence database of the Protein Information Resource

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PIRi
A54747 A55197

NCBI Reference Sequences

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RefSeqi
NP_000368.1, NM_000377.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.2157

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000376701; ENSP00000365891; ENSG00000015285

Database of genes from NCBI RefSeq genomes

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GeneIDi
7454

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:7454

UCSC genome browser

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UCSCi
uc004dkm.5 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB 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[»]
ProteinModelPortaliP42768
SMRiP42768
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113293, 63 interactors
CORUMiP42768
DIPiDIP-431N
ELMiP42768
IntActiP42768, 48 interactors
MINTiP42768
STRINGi9606.ENSP00000365891

Chemistry databases

DrugBankiDB01731 (S)-Wiskostatin

PTM databases

iPTMnetiP42768
PhosphoSitePlusiP42768

Polymorphism and mutation databases

BioMutaiWAS

Proteomic databases

EPDiP42768
MaxQBiP42768
PaxDbiP42768
PeptideAtlasiP42768
PRIDEiP42768
ProteomicsDBi55550

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
7454
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
7454
DisGeNETi7454
EuPathDBiHostDB:ENSG00000015285.10

GeneCards: human genes, protein and diseases

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GeneCardsi
WAS
GeneReviewsiWAS
HGNCiHGNC:12731 WAS
HPAiCAB004290
HPA002022
MalaCardsiWAS
MIMi300299 phenotype
300392 gene
301000 phenotype
313900 phenotype
neXtProtiNX_P42768
OpenTargetsiENSG00000015285
Orphaneti906 Wiskott-Aldrich syndrome
86788 X-linked severe congenital neutropenia
852 X-linked thrombocytopenia with normal platelets
PharmGKBiPA37342

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3671 Eukaryota
ENOG4111M1J LUCA
GeneTreeiENSGT00730000110895
HOGENOMiHOG000143378
HOVERGENiHBG000222
InParanoidiP42768
KOiK05747
OMAiFAADDCQ
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
WAS human
EvolutionaryTraceiP42768

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Wiskott%E2%80%93Aldrich_syndrome_protein

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
7454

Protein Ontology

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PROi
PR:P42768

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000015285 Expressed in 202 organ(s), highest expression level in blood
CleanExiHS_WAS
ExpressionAtlasiP42768 baseline and differential
GenevisibleiP42768 HS

Family and domain databases

CDDicd00132 CRIB, 1 hit
cd01205 EVH1_WASP-like, 1 hit
Gene3Di2.30.29.30, 1 hit
3.90.810.10, 2 hits
InterProiView protein in InterPro
IPR000095 CRIB_dom
IPR036936 CRIB_dom_sf
IPR011993 PH-like_dom_sf
IPR027641 WASP
IPR011026 WASP_C
IPR033927 WASPfam_EVH1
IPR000697 WH1/EVH1_dom
IPR003124 WH2_dom
PANTHERiPTHR23202:SF35 PTHR23202:SF35, 1 hit
PfamiView protein in Pfam
PF00786 PBD, 1 hit
PF00568 WH1, 1 hit
PF02205 WH2, 1 hit
SMARTiView protein in SMART
SM00285 PBD, 1 hit
SM00461 WH1, 1 hit
SM00246 WH2, 1 hit
SUPFAMiSSF47912 SSF47912, 2 hits
PROSITEiView protein in PROSITE
PS50108 CRIB, 1 hit
PS50229 WH1, 1 hit
PS51082 WH2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiWASP_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P42768
Secondary accession number(s): Q9BU11, Q9UNJ9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 219 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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