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    WASF1 WASP family member 1 [ Homo sapiens (human) ]

    Gene ID: 8936, updated on 17-Feb-2019

    Summary

    Official Symbol
    WASF1provided by HGNC
    Official Full Name
    WASP family member 1provided by HGNC
    Primary source
    HGNC:HGNC:12732
    See related
    Ensembl:ENSG00000112290 MIM:605035
    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
    WAVE; SCAR1; WAVE1
    Summary
    The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in brain (RPKM 38.3), testis (RPKM 35.2) and 8 other tissues See more
    Orthologs

    Genomic context

    See WASF1 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (110099819..110180004, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (110421022..110501219, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986631 Neighboring gene G protein-coupled receptor 6 Neighboring gene cell division cycle 40 Neighboring gene uncharacterized LOC105377937 Neighboring gene methyltransferase like 24

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef HIV-1-mediated effects on podosomes and migration involve Nef-HCK interaction, and HCK-mediated phosphorylation of WASP at podosomes 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....
    • 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...
    • 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...
    • E2F transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      E2F transcription factor network, organism-specific biosystem
      E2F transcription factor network
    • 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...
    • 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
    • RAC1 signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      RAC1 signaling pathway, organism-specific biosystem
      RAC1 signaling pathway
    • 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 WikiPathways)
      Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
    • 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 by VEGF, organism-specific biosystem (from REACTOME)
      Signaling by VEGF, organism-specific biosystemIn normal development vascular endothelial growth factors (VEGFs) are crucial regulators of vascular development during embryogenesis (vasculogenesis) and blood-vessel formation in the adult (angioge...
    • VEGFA-VEGFR2 Pathway, organism-specific biosystem (from REACTOME)
      VEGFA-VEGFR2 Pathway, organism-specific biosystemAngiogenesis is the formation of new blood vessels from preexisting vasculature. One of the most important proangiogenic factors is vascular endothelial growth factor (VEGF). VEGF exerts its biologic...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ31482, KIAA0269

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to Rac GTPase binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase A binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    Rac protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    actin filament polymerization TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to brain-derived neurotrophic factor stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    dendrite extension IEA
    Inferred from Electronic Annotation
    more info
     
    dendritic transport of mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    lamellipodium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    modification of postsynaptic actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of Arp2/3 complex-mediated actin nucleation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of neurotrophin TRK receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    protein-containing complex assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    receptor-mediated endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    SCAR complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    actin cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    dendrite cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    focal adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    lamellipodium IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrial outer membrane IEA
    Inferred from Electronic Annotation
    more info
     
    postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    wiskott-Aldrich syndrome protein family member 1
    Names
    WAS protein family member 1
    WASP family protein member 1
    homology of dictyostelium scar 1
    protein WAVE-1
    verprolin homology domain-containing protein 1

    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_001024934.1NP_001020105.1  wiskott-Aldrich syndrome protein family member 1

      See identical proteins and their annotated locations for NP_001020105.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same protein.
      Source sequence(s)
      AI928895, BC044591, BC068546, BG719023, BI461486
      Consensus CDS
      CCDS5080.1
      UniProtKB/Swiss-Prot
      Q92558
      Related
      ENSP00000376367.1, ENST00000392588.5
      Conserved Domains (2) summary
      pfam02205
      Location:494521
      WH2; WH2 motif
      cl25764
      Location:395489
      PAT1; Topoisomerase II-associated protein PAT1
    2. NM_001024935.1NP_001020106.1  wiskott-Aldrich syndrome protein family member 1

      See identical proteins and their annotated locations for NP_001020106.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same protein.
      Source sequence(s)
      AI928895, BC044591, BG719023
      Consensus CDS
      CCDS5080.1
      UniProtKB/Swiss-Prot
      Q92558
      Related
      ENSP00000352425.2, ENST00000359451.6
      Conserved Domains (2) summary
      pfam02205
      Location:494521
      WH2; WH2 motif
      cl25764
      Location:395489
      PAT1; Topoisomerase II-associated protein PAT1
    3. NM_001024936.1NP_001020107.1  wiskott-Aldrich syndrome protein family member 1

      See identical proteins and their annotated locations for NP_001020107.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two exons in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same protein.
      Source sequence(s)
      AI928895, BC044591, BC068546, BG719023
      Consensus CDS
      CCDS5080.1
      UniProtKB/Swiss-Prot
      Q92558
      Related
      ENSP00000376366.2, ENST00000392587.6
      Conserved Domains (2) summary
      pfam02205
      Location:494521
      WH2; WH2 motif
      cl25764
      Location:395489
      PAT1; Topoisomerase II-associated protein PAT1
    4. NM_003931.3NP_003922.1  wiskott-Aldrich syndrome protein family member 1

      See identical proteins and their annotated locations for NP_003922.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AI928895, BG719023, BI461486, D87459
      Consensus CDS
      CCDS5080.1
      UniProtKB/Swiss-Prot
      Q92558
      Related
      ENSP00000376368.1, ENST00000392589.5
      Conserved Domains (2) summary
      pfam02205
      Location:494521
      WH2; WH2 motif
      cl25764
      Location:395489
      PAT1; Topoisomerase II-associated protein PAT1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      110099819..110180004 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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