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WASL Wiskott-Aldrich syndrome like [ Homo sapiens (human) ]

Gene ID: 8976, updated on 4-Nov-2018

Summary

Official Symbol
WASLprovided by HGNC
Official Full Name
Wiskott-Aldrich syndrome likeprovided by HGNC
Primary source
HGNC:HGNC:12735
See related
Ensembl:ENSG00000106299 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; WASPB; N-WASP
Summary
This gene encodes a member of the Wiskott-Aldrich syndrome (WAS) protein family. Wiskott-Aldrich syndrome proteins share similar domain structure, and associate with a variety of signaling molecules to alter the actin cytoskeleton. The encoded protein is highly expressed in neural tissues, and interacts with several proteins involved in cytoskeletal organization, including cell division control protein 42 (CDC42) and the actin-related protein-2/3 (ARP2/3) complex. The encoded protein may be involved in the formation of long actin microspikes, and in neurite extension. [provided by RefSeq, Jul 2013]
Expression
Ubiquitous expression in colon (RPKM 25.7), thyroid (RPKM 23.4) and 25 other tissues See more
Orthologs

Genomic context

See WASL in Genome Data Viewer
Location:
7q31.32
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (123681927..123749071, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (123321981..123389125, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and SOCS box containing 15 Neighboring gene uncharacterized LOC102724555 Neighboring gene leiomodin 2 Neighboring gene hyaluronidase 4 Neighboring gene RNA, U6 small nuclear 11, pseudogene Neighboring gene hyaluronidase 6, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog

HIV-1 interactions

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 Interaction Database

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...
  • Choline metabolism in cancer, organism-specific biosystem (from KEGG)
    Choline metabolism in cancer, organism-specific biosystemAbnormal choline metabolism is emerging as a metabolic hallmark that is associated with oncogenesis and tumour progression. Following transformation, oncogenic signalling via pathways such as the RAS...
  • Choline metabolism in cancer, conserved biosystem (from KEGG)
    Choline metabolism in cancer, conserved biosystemAbnormal choline metabolism is emerging as a metabolic hallmark that is associated with oncogenesis and tumour progression. Following transformation, oncogenic signalling via pathways such as the RAS...
  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • 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
  • EPH-Ephrin signaling, organism-specific biosystem (from REACTOME)
    EPH-Ephrin signaling, organism-specific biosystemDuring the development process cell migration and adhesion are the main forces involved in morphing the cells into critical anatomical structures. The ability of a cell to migrate to its correct dest...
  • EPHB forward signaling, organism-specific biosystem (from Pathway Interaction Database)
    EPHB forward signaling, organism-specific biosystem
    EPHB forward signaling
  • EPHB-mediated forward signaling, organism-specific biosystem (from REACTOME)
    EPHB-mediated forward signaling, organism-specific biosystemMultiple EPHB receptors contribute directly to dendritic spine development and morphogenesis. These are more broadly involved in post-synaptic development through activation of focal adhesion kinase ...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • ErbB1 downstream signaling, organism-specific biosystem (from Pathway Interaction Database)
    ErbB1 downstream signaling, organism-specific biosystem
    ErbB1 downstream signaling
  • Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling, organism-specific biosystem (from WikiPathways)
    Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling, organism-specific biosystemThe signaling pathway that involves insulin-like growth factor 1 (IGF1), and a variety of other components that affect the pathway, plays an important role in the regulation of skeletal muscle growth...
  • 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...
  • Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystem (from REACTOME)
    Fcgamma receptor (FCGR) dependent phagocytosis, organism-specific biosystemPhagocytosis is one of the important innate immune responses that function to eliminate invading infectious agents. Monocytes, macrophages, and neutrophils are the professional phagocytic cells. Phag...
  • 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...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • 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...
  • PDGF Pathway, organism-specific biosystem (from WikiPathways)
    PDGF Pathway, organism-specific biosystemPDGF belongs to the PDGF/VEGF (vascular endothelial growth factor) family, which is characterized by eight strictly conserved cysteine residues with similar spacing in between (Joukov et al., 1997; H...
  • 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...
  • Pathogenic Escherichia coli infection, organism-specific biosystem (from WikiPathways)
    Pathogenic Escherichia coli infection, organism-specific biosystemSources: [http://www.genome.jp/kegg/pathway/hsa/hsa05130.html KEGG]
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate WASPs and WAVEs, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate WASPs and WAVEs, organism-specific biosystemWASP and WAVE proteins belong to the Wiskott-Aldrich Syndrome protein family, with recessive mutations in the founding member WASP being responsible for the X-linked recessive immunodeficieny known a...
  • 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
  • Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystem (from REACTOME)
    Regulation of actin dynamics for phagocytic cup formation, organism-specific biosystemThe actin cytoskeleton is fundamental for phagocytosis and members of the Rho family GTPases RAC and CDC42 are involved in actin cytoskeletal regulation leading to pseudopod extension. Active RAC and...
  • 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...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
  • 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
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC48327, DKFZp779G0847

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase regulator activity TAS
Traceable Author Statement
more info
PubMed 
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Fc-gamma receptor signaling pathway involved in phagocytosis TAS
Traceable Author Statement
more info
 
actin cortical patch assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin cortical patch localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament polymerization IDA
Inferred from Direct Assay
more info
PubMed 
actin filament-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin polymerization or depolymerization TAS
Traceable Author Statement
more info
PubMed 
cell division IEA
Inferred from Electronic Annotation
more info
 
cellular protein-containing complex localization IEA
Inferred from Electronic Annotation
more info
 
dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
membrane organization TAS
Traceable Author Statement
more info
 
negative regulation of lymphocyte migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of membrane tubulation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of Arp2/3 complex-mediated actin nucleation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of actin nucleation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of clathrin-dependent endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
regulation of nitric-oxide synthase activity TAS
Traceable Author Statement
more info
 
regulation of protein localization IEA
Inferred from Electronic Annotation
more info
 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
spindle localization IEA
Inferred from Electronic Annotation
more info
 
vesicle budding from membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
vesicle organization ISS
Inferred from Sequence or Structural Similarity
more info
 
vesicle transport along actin filament ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
actin cap IEA
Inferred from Electronic Annotation
more info
 
actin cortical patch IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin cytoskeleton TAS
Traceable Author Statement
more info
PubMed 
actin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
lamellipodium IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
neural Wiskott-Aldrich syndrome protein

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_003941.3NP_003932.3  neural Wiskott-Aldrich syndrome protein

    See identical proteins and their annotated locations for NP_003932.3

    Status: REVIEWED

    Source sequence(s)
    BC028602, BC052955, CF593336, DB380642
    Consensus CDS
    CCDS34743.1
    UniProtKB/Swiss-Prot
    O00401
    Related
    ENSP00000223023.4, OTTHUMP00000211994, ENST00000223023.4, OTTHUMT00000348522
    Conserved Domains (4) summary
    smart00246
    Location:433450
    WH2; Wiskott Aldrich syndrome homology region 2
    cd01205
    Location:40138
    EVH1_WASP-like; WASP family proteins EVH1 domain
    pfam00786
    Location:202259
    PBD; P21-Rho-binding domain
    pfam02205
    Location:403425
    WH2; WH2 motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    123681927..123749071 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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