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

    Gene ID: 8936, updated on 7-Aug-2021

    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; NEDALVS
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See WASF1 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (110099819..110179670, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (110421022..110500873, 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 Functions

    What'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 PubChem

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

    NEW Try the new Transcript table

    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_001024934.2NP_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 (1) summary
      cd22071
      Location:485559
      WH2_WAVE-1; Wiskott Aldrich syndrome homology region 2 (WH2 motif) found in Wiskott-Aldrich Syndrome Protein Family Member 1 (WASP1 or WAVE1 or WASF1 or SCAR1)
    2. NM_001024935.2NP_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 (1) summary
      cd22071
      Location:485559
      WH2_WAVE-1; Wiskott Aldrich syndrome homology region 2 (WH2 motif) found in Wiskott-Aldrich Syndrome Protein Family Member 1 (WASP1 or WAVE1 or WASF1 or SCAR1)
    3. NM_001024936.2NP_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 (1) summary
      cd22071
      Location:485559
      WH2_WAVE-1; Wiskott Aldrich syndrome homology region 2 (WH2 motif) found in Wiskott-Aldrich Syndrome Protein Family Member 1 (WASP1 or WAVE1 or WASF1 or SCAR1)
    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, ENST00000392589.6
      Conserved Domains (1) summary
      cd22071
      Location:485559
      WH2_WAVE-1; Wiskott Aldrich syndrome homology region 2 (WH2 motif) found in Wiskott-Aldrich Syndrome Protein Family Member 1 (WASP1 or WAVE1 or WASF1 or SCAR1)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

      Range
      110099819..110179670 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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