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    WASL Wiskott-Aldrich syndrome-like [ Homo sapiens ]

    Gene ID: 8976, updated on 19-May-2012
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    Summary

    Official Symbol
    WASLprovided by HGNC
    Official Full Name
    Wiskott-Aldrich syndrome-likeprovided by HGNC
    Primary source
    HGNC:12735
    See related
    Ensembl:ENSG00000106299; HPRD:05448; MIM:605056; Vega:OTTHUMG00000157346
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NWASP; N-WASP; MGC48327; DKFZp779G0847
    Summary
    The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. The WASL gene product is a homolog of WAS protein, however, unlike the latter, it is ubiquitously expressed and shows highest expression in neural tissues. It has been shown to bind Cdc42 directly, and induce formation of long actin microspikes. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    7q31.3
    Sequence :
    Chromosome: 7; NC_000007.13 (123321997..123389116, complement)
    See WASL in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and SOCS box containing 15 Neighboring gene leiomodin 2 (cardiac) Neighboring gene hyaluronoglucosaminidase pseudogene 1 Neighboring gene hyaluronoglucosaminidase 4

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. N-WASP regulates the epithelial junctional actin cytoskeleton through a non-canonical post-nucleation pathway. Kovacs EM, et al. Nat Cell Biol, 2011 Jul 24. PMID 21785420.
    2. WAVE2, N-WASP, and Mena facilitate cell invasion via phosphatidylinositol 3-kinase-dependent local accumulation of actin filaments. Takahashi K, et al. J Cell Biochem, 2011 Nov. PMID 21769917.
    3. Tuba and N-WASP function cooperatively to position the central lumen during epithelial cyst morphogenesis. Kovacs EM, et al. Cell Adh Migr, 2011 Jul 1. PMID 21677511.
    4. Interplay between N-WASP and CK2 optimizes clathrin-mediated endocytosis of EGFR. Galovic M, et al. J Cell Sci, 2011 Jun 15. PMID 21610097.
    5. Neural Wiskott-Aldrich syndrome protein is required for accurate chromosome congression and segregation. Park SJ, et al. Mol Cells, 2011 Jun. PMID 21533546.

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. results indicate that by mediating intensive F-actin accumulation at the sites of cell infiltration, WAVE2, N-WASP, and Mena are crucial for PI3K-dependent cell invasion induced by PDGF
      Title: WAVE2, N-WASP, and Mena facilitate cell invasion via phosphatidylinositol 3-kinase-dependent local accumulation of actin filaments.
    2. N-WASP assists in the recruitment and localization of Tuba to the cell junction.
      Title: Tuba and N-WASP function cooperatively to position the central lumen during epithelial cyst morphogenesis.
    3. Perturbation of N-WASP-CK2 complex function showed that N-WASP controls the presence of F-actin at clathrin-coated structures. N-WASP-CK2 complex integrates in a single circuit different activities contributing to CME.
      Title: Interplay between N-WASP and CK2 optimizes clathrin-mediated endocytosis of EGFR.
    4. N-WASP plays a role in efficient assembly of kinetochores and attachment of microtubules to chromosomes, which is essential for accurate chromosome congression and segregation
      Title: Neural Wiskott-Aldrich syndrome protein is required for accurate chromosome congression and segregation.
    5. N-WASP-WIRE serves as an integrator that couples actin nucleation with the subsequent steps of filament stabilization and organization necessary for zonula adherens integrity.
      Title: N-WASP regulates the epithelial junctional actin cytoskeleton through a non-canonical post-nucleation pathway.
    6. Recruitment of FAK and N-WASP is necessary for cell migration and invasion induced by 17beta-estradiol in breast cancer cells.
      Title: Estrogen receptor-alpha promotes breast cancer cell motility and invasion via focal adhesion kinase and N-WASP.
    7. CFL1 and N-WASP may play an important role in the tumorigenesis of ESCC, and to be the candidate novel biomarkers for the diagnosis and prognosis of esophageal squamous cell carcinoma.
      Title: The expression of CFL1 and N-WASP in esophageal squamous cell carcinoma and its correlation with clinicopathological features.
    8. Cdc42 regulates the activity of IRSp53 by regulating the IRSp53-WIRE interaction as well as localization of the complex to plasma membrane to generate filopodia.
      Title: The mammalian verprolin, WIRE induces filopodia independent of N-WASP through IRSp53.
    9. Cdc42 may influence endocytic membrane trafficking by regulating the formation and activity of the Toca-1/N-WASP complex.
      Title: Cdc42 interaction with N-WASP and Toca-1 regulates membrane tubulation, vesicle formation and vesicle motility: implications for endocytosis.
    10. Arg promotes actin-based protrusions in response to extracellular stimuli through phosphorylation of and physical interactions with N-WASp.
      Title: Regulation of actin polymerization and adhesion-dependent cell edge protrusion by the Abl-related gene (Arg) tyrosine kinase and N-WASp.
    Submit: New GeneRIF Correction See all (28)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1 Nef inhibits the concomitant activation of the actin organizer N-Wasp by interfering with the translocation of N-Wasp to the cell periphery and blocks morphological changes induced by the known N-Wasp regulators Rac1 and Cdc42 PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_003932.2 NP_060207.2 FNBP1L    BIND  PubMed Toca-1 interacts with N-WASP. This interaction was modelled on a demonstrated interaction between Toca-1 from human and N-WASP from rat. 
    NP_003932.3 NP_005339.2 HSP90AA1    BIND  PubMed WASL (N-WASP) interacts with HSPCA (HSP90-alpha). 
    NP_003932.3 NP_031381.2 HSP90AB1    BIND  PubMed WASL (N-WASP) interacts with HSPCB (HSP90-beta). 
    NP_003932.3 NP_056888.1 src    BIND  PubMed WASL (N-WASP) is phosphorylated by v-Src. 
    O00401     BIND  PubMed N-WASP interacts with the Arp2/3 complex. 
    BioGRID:114466 BioGRID:106819 APBB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114466 BioGRID:107433 CDC42    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:114466 BioGRID:108332 CTTN    BioGRID  PubMed Affinity Capture-Western; Far Western 
    BioGRID:114466 BioGRID:116869 DNMBP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114466 BioGRID:109142 GRB2    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:114466 BioGRID:112351 ITSN1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114466 BioGRID:110770 NCK1    BioGRID  PubMed Far Western; Reconstituted Complex 
    BioGRID:114466 BioGRID:119018 PACSIN1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114466 BioGRID:116413 PACSIN2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114466 BioGRID:118896 PACSIN3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114466 BioGRID:111237 PFN1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:114466 BioGRID:120792 PRPF40A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:114466 BioGRID:117001 RHOQ    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:114466 BioGRID:113274 VIPR1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:114466 BioGRID:113295 WIPF1    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Adherens junction, organism-specific biosystem (from KEGG)
      Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
    • Adherens junction, conserved biosystem (from KEGG)
      Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
      Bacterial invasion of epithelial cells, organism-specific biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
    • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
      Bacterial invasion of epithelial cells, conserved biosystemMany pathogenic bacteria can invade phagocytic and non-phagocytic cells and colonize them intracellularly, then become disseminated to other cells. Invasive bacteria induce their own uptake by non-ph...
    • CDC42 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      CDC42 signaling events, organism-specific biosystem
      CDC42 signaling events
    • Cell-Cell communication, organism-specific biosystem (from REACTOME)
      Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
    • Chemokine signaling pathway, organism-specific biosystem (from KEGG)
      Chemokine signaling pathway, organism-specific biosystemInflammatory immune response requires the recruitment of leukocytes to the site of inflammation upon foreign insult. Chemokines are small chemoattractant peptides that provide directional cues for th...
    • Chemokine signaling pathway, conserved biosystem (from KEGG)
      Chemokine signaling pathway, conserved biosystemInflammatory immune response requires the recruitment of leukocytes to the site of inflammation upon foreign insult. Chemokines are small chemoattractant peptides that provide directional cues for th...
    • DCC mediated attractive signaling, organism-specific biosystem (from REACTOME)
      DCC mediated attractive signaling, organism-specific biosystemThe DCC family includes DCC and neogenin in vertebrates. DCC is required for netrin-induced axon attraction. DCC is a transmembrane protein lacking any identifiable catalytic activity. Protein tyrosi...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • EGF receptor (ErbB1) signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      EGF receptor (ErbB1) signaling pathway, organism-specific biosystem
      EGF receptor (ErbB1) signaling pathway
    • EGFR1 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      EGFR1 Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
    • EPHB forward signaling, organism-specific biosystem (from Pathway Interaction Database)
      EPHB forward signaling, organism-specific biosystem
      EPHB forward signaling
    • ErbB1 downstream signaling, organism-specific biosystem (from Pathway Interaction Database)
      ErbB1 downstream signaling, organism-specific biosystem
      ErbB1 downstream signaling
    • Fc gamma R-mediated phagocytosis, organism-specific biosystem (from KEGG)
      Fc gamma R-mediated phagocytosis, organism-specific biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
    • Fc gamma R-mediated phagocytosis, conserved biosystem (from KEGG)
      Fc gamma R-mediated phagocytosis, conserved biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
    • G13 Signaling Pathway, organism-specific biosystem (from WikiPathways)
      G13 Signaling Pathway, organism-specific biosystemThe G13 subunit is an alpha unit of heterotrimeric G proteins that regulates cell processes through the use of guanine nucleotide exchange factors. G13 regulates actin cytoskeletal remodeling in cell...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of nitric oxide, organism-specific biosystem (from REACTOME)
      Metabolism of nitric oxide, organism-specific biosystemNitric oxide (NO), a multifunctional second messenger, is implicated in physiological functions in mammals that range from immune response and potentiation of synaptic transmission to dilation of blo...
    • NOSTRIN mediated eNOS trafficking, organism-specific biosystem (from REACTOME)
      NOSTRIN mediated eNOS trafficking, organism-specific biosystemeNOS traffic inducer (NOSTRIN) is a novel 506-amino acid eNOS-interacting protein. Along with a decrease in eNOS activity, NOSTRIN causes translocation of eNOS from the plasma membrane to intracellu...
    • Nephrin interactions, organism-specific biosystem (from REACTOME)
      Nephrin interactions, organism-specific biosystemNephrin is a member of the Super-IgG-Molecule family and is most prominently expressed in kidney podocytes. It is a major if not the most important structural component of the slit diaphragm, a modif...
    • Nephrin/Neph1 signaling in the kidney podocyte, organism-specific biosystem (from Pathway Interaction Database)
      Nephrin/Neph1 signaling in the kidney podocyte, organism-specific biosystem
      Nephrin/Neph1 signaling in the kidney podocyte
    • Netrin-1 signaling, organism-specific biosystem (from REACTOME)
      Netrin-1 signaling, organism-specific biosystemNetrins are secreted proteins that play a crucial role in neuronal migration and in axon guidance during the development of the nervous system. To date, several Netrins have been described in mouse a...
    • Pathogenic Escherichia coli infection, organism-specific biosystem (from KEGG)
      Pathogenic Escherichia coli infection, organism-specific biosystemEnteropathogenic E. coli (EPEC) and enterohemorrhagic E. coli (EHEC) are closely related pathogenic strains of Escherichia coli. The hallmark of EPEC/EHEC infections [DS:H00278 H00277] is induction o...
    • Pathogenic Escherichia coli infection, conserved biosystem (from KEGG)
      Pathogenic Escherichia coli infection, conserved biosystemEnteropathogenic E. coli (EPEC) and enterohemorrhagic E. coli (EHEC) are closely related pathogenic strains of Escherichia coli. The hallmark of EPEC/EHEC infections [DS:H00278 H00277] is induction o...
    • Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
      Regulation of actin cytoskeleton, organism-specific biosystem
      Regulation of actin cytoskeleton
    • Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
      Regulation of actin cytoskeleton, conserved biosystem
      Regulation of actin cytoskeleton
    • Salmonella infection, organism-specific biosystem (from KEGG)
      Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
    • Salmonella infection, conserved biosystem (from KEGG)
      Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
    • Shigellosis, organism-specific biosystem (from KEGG)
      Shigellosis, organism-specific biosystemShigellosis, or bacillary dysentery, is an intestinal infection caused by Shigella, a genus of enterobacteria. Shigella are potential food-borne pathogens that are capable of colonizing the intestina...
    • Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met), organism-specific biosystem
      Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
    • Signaling events mediated by focal adhesion kinase, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by focal adhesion kinase, organism-specific biosystem
      Signaling events mediated by focal adhesion kinase
    • eNOS activation and regulation, organism-specific biosystem (from REACTOME)
      eNOS activation and regulation, organism-specific biosystemOriginally identified as endothelium-derived relaxing factor, eNOS derived NO is a critical signaling molecule in vascular homeostasis. It regulates blood pressure and vascular tone, and is involved...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    small GTPase regulator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    actin polymerization or depolymerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    axon guidance TAS
    Traceable Author Statement
    more info
    		  
    cellular component movement TAS
    Traceable Author Statement
    more info
    		 PubMed 
    nitric oxide metabolic process TAS
    Traceable Author Statement
    more info
    		  
    protein complex assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of nitric-oxide synthase activity TAS
    Traceable Author Statement
    more info
    		  
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to bacterium IEA
    Inferred from Electronic Annotation
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
    		  
    lamellipodium IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    plasma membrane TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    neural Wiskott-Aldrich syndrome protein
    Names
    neural Wiskott-Aldrich syndrome protein
    Wiskott-Aldrich syndrome gene-like
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_003941.2 → NP_003932.3  neural Wiskott-Aldrich syndrome protein

      Status: REVIEWED

      Source sequence(s)
      BC052955, CB990698
      Consensus CDS
      CCDS34743.1
      UniProtKB/Swiss-Prot
      O00401
      Related
      ENSP00000223023, OTTHUMP00000211994, ENST00000223023, OTTHUMT00000348522
      Conserved Domains (3) summary
      cd00132
      Location:201 – 243
      Blast Score: 151
      CRIB; PAK (p21 activated kinase) Binding Domain (PBD), binds Cdc42p- and/or Rho-like small GTPases; also known as the Cdc42/Rac interactive binding (CRIB) motif; has been shown to inhibit transcriptional activation and cell transformation mediated by the ...
      smart00246
      Location:433 – 450
      Blast Score: 94
      WH2; Wiskott Aldrich syndrome homology region 2
      cd01205
      Location:35 – 136
      Blast Score: 468
      WASP; WASP-type EVH1 domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p5 Primary Assembly

      Range
      123321997..123389116, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      117685137..117752312, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      122710624..122777740, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic CH236947.1 EAL24333.1
    genomic CH471070.1 EAW83599.1
    genomic E15468.1 None
    mRNA AK023554.1 None
    mRNA AK131016.1 None
    mRNA AK289795.1 BAF82484.1
    mRNA AM295156.1 CAL26602.1
    mRNA BC013776.1 None
    mRNA BC028602.1 None
    mRNA BC052955.1 AAH52955.1
    mRNA CB990698.1 None
    mRNA CR749438.1 CAH18276.1
    mRNA D88460.1 BAA20128.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00401.2 GenPept UniProtKB/Swiss-Prot:O00401
    Q68DE4 GenPept UniProtKB/TrEMBL:Q68DE4
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

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