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    WASF3 WASP family member 3 [ Homo sapiens (human) ]

    Gene ID: 10810, updated on 9-Dec-2024

    Summary

    Official Symbol
    WASF3provided by HGNC
    Official Full Name
    WASP family member 3provided by HGNC
    Primary source
    HGNC:HGNC:12734
    See related
    Ensembl:ENSG00000132970 MIM:605068; AllianceGenome:HGNC:12734
    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
    SCAR3; WAVE3; Brush-1
    Summary
    This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. A pseudogene of this gene have been defined on chromosome 6. Alternative splicing results in multiple transcript variants [provided by RefSeq, May 2014]
    Expression
    Broad expression in brain (RPKM 34.0), fat (RPKM 12.7) and 15 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See WASF3 in Genome Data Viewer
    Location:
    13q12.13
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (26539139..26688948)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (25753035..25902898)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (27131820..27263085)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5186 Neighboring gene THAP domain containing 12 pseudogene 6 Neighboring gene cyclin dependent kinase 8 Neighboring gene NANOG hESC enhancer GRCh37_chr13:26953049-26953564 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:26998629-26999154 Neighboring gene Sharpr-MPRA regulatory region 712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:27059649-27060160 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5187 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:27075157-27075657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5188 Neighboring gene RPS3A pseudogene 44 Neighboring gene NANOG hESC enhancer GRCh37_chr13:27232594-27233188 Neighboring gene uncharacterized LOC107984597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:27269807-27270328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:27316809-27317475 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:27359105-27359720 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5190 Neighboring gene G protein-coupled receptor 12 Neighboring gene FGFR1 oncogene partner 2 pseudogene 1

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0900

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables Arp2/3 complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 regulatory subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in actin filament polymerization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lamellipodium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in modification of postsynaptic actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in oligodendrocyte development 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
     
    involved_in positive regulation of myelination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of cell shape IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of SCAR complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in glial cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in lamellipodium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    actin-binding protein WASF3
    Names
    WAS protein family member 3
    WASP family Verprolin-homologous protein 3
    protein WAVE-3
    verprolin homology domain-containing protein 3
    wiskott-Aldrich syndrome protein family member 3

    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_001291965.1NP_001278894.1  actin-binding protein WASF3 isoform 2

      See identical proteins and their annotated locations for NP_001278894.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks one exon and includes one alternate exon in the central coding region, compared to variant 1. The encoded isoform (2) has a shorter and distinct internal segment, compared to isoform 1.
      Source sequence(s)
      AF454702, AL133590, BC050283, BU736040
      Consensus CDS
      CCDS76626.1
      UniProtKB/Swiss-Prot
      Q9UPY6
      Related
      ENSP00000354325.4, ENST00000361042.8
      Conserved Domains (1) summary
      cd22073
      Location:434499
      WH2_WAVE-3; Wiskott Aldrich syndrome homology region 2 (WH2 motif) found in Wiskott-Aldrich Syndrome Protein Family Member 3 (WASP-3 or WAVE3)
    2. NM_006646.6NP_006637.2  actin-binding protein WASF3 isoform 1

      See identical proteins and their annotated locations for NP_006637.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB020707, AL133590, AL159978, AL353789, BC050283, BU736040
      Consensus CDS
      CCDS9318.1
      UniProtKB/Swiss-Prot
      O94974, Q86VQ2, Q9UPY6
      UniProtKB/TrEMBL
      Q5T8P4
      Related
      ENSP00000335055.5, ENST00000335327.6
      Conserved Domains (1) summary
      cd22073
      Location:437502
      WH2_WAVE-3; Wiskott Aldrich syndrome homology region 2 (WH2 motif) found in Wiskott-Aldrich Syndrome Protein Family Member 3 (WASP-3 or WAVE3)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      26539139..26688948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449315.2XP_024305083.1  actin-binding protein WASF3 isoform X1

      UniProtKB/Swiss-Prot
      O94974, Q86VQ2, Q9UPY6
      UniProtKB/TrEMBL
      Q5T8P4
      Conserved Domains (1) summary
      cd22073
      Location:437502
      WH2_WAVE-3; Wiskott Aldrich syndrome homology region 2 (WH2 motif) found in Wiskott-Aldrich Syndrome Protein Family Member 3 (WASP-3 or WAVE3)
    2. XM_047430060.1XP_047286016.1  actin-binding protein WASF3 isoform X1

      UniProtKB/Swiss-Prot
      O94974, Q86VQ2, Q9UPY6
      UniProtKB/TrEMBL
      Q5T8P4
    3. XM_047430064.1XP_047286020.1  actin-binding protein WASF3 isoform X2

    4. XM_047430059.1XP_047286015.1  actin-binding protein WASF3 isoform X1

      UniProtKB/Swiss-Prot
      O94974, Q86VQ2, Q9UPY6
      UniProtKB/TrEMBL
      Q5T8P4
    5. XM_047430063.1XP_047286019.1  actin-binding protein WASF3 isoform X2

    6. XM_011534889.3XP_011533191.1  actin-binding protein WASF3 isoform X1

      See identical proteins and their annotated locations for XP_011533191.1

      UniProtKB/Swiss-Prot
      O94974, Q86VQ2, Q9UPY6
      UniProtKB/TrEMBL
      Q5T8P4
      Conserved Domains (1) summary
      cd22073
      Location:437502
      WH2_WAVE-3; Wiskott Aldrich syndrome homology region 2 (WH2 motif) found in Wiskott-Aldrich Syndrome Protein Family Member 3 (WASP-3 or WAVE3)
    7. XM_047430062.1XP_047286018.1  actin-binding protein WASF3 isoform X2

    8. XM_011534890.2XP_011533192.1  actin-binding protein WASF3 isoform X1

      See identical proteins and their annotated locations for XP_011533192.1

      UniProtKB/Swiss-Prot
      O94974, Q86VQ2, Q9UPY6
      UniProtKB/TrEMBL
      Q5T8P4
      Conserved Domains (1) summary
      cd22073
      Location:437502
      WH2_WAVE-3; Wiskott Aldrich syndrome homology region 2 (WH2 motif) found in Wiskott-Aldrich Syndrome Protein Family Member 3 (WASP-3 or WAVE3)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      25753035..25902898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374047.1XP_054230022.1  actin-binding protein WASF3 isoform X1

      UniProtKB/Swiss-Prot
      O94974, Q86VQ2, Q9UPY6
      UniProtKB/TrEMBL
      Q5T8P4
    2. XM_054374048.1XP_054230023.1  actin-binding protein WASF3 isoform X1

      UniProtKB/Swiss-Prot
      O94974, Q86VQ2, Q9UPY6
      UniProtKB/TrEMBL
      Q5T8P4
    3. XM_054374051.1XP_054230026.1  actin-binding protein WASF3 isoform X2

    4. XM_054374045.1XP_054230020.1  actin-binding protein WASF3 isoform X1

      UniProtKB/Swiss-Prot
      O94974, Q86VQ2, Q9UPY6
      UniProtKB/TrEMBL
      Q5T8P4
    5. XM_054374050.1XP_054230025.1  actin-binding protein WASF3 isoform X2

    6. XM_054374044.1XP_054230019.1  actin-binding protein WASF3 isoform X1

      UniProtKB/Swiss-Prot
      O94974, Q86VQ2, Q9UPY6
      UniProtKB/TrEMBL
      Q5T8P4
    7. XM_054374049.1XP_054230024.1  actin-binding protein WASF3 isoform X2

    8. XM_054374046.1XP_054230021.1  actin-binding protein WASF3 isoform X1

      UniProtKB/Swiss-Prot
      O94974, Q86VQ2, Q9UPY6
      UniProtKB/TrEMBL
      Q5T8P4