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

    Gene ID: 10810, updated on 28-Oct-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. A candidate tumor suppressor gene in human breast cancers. Schott DR, et al. Cancer Res, 1994 Mar 15. PMID 8137235
    2. High WAVE3 expression correlates with proliferation, migration and invasion in human ovarian cancer. Lu J, et al. Oncotarget, 2017 Jun 20. PMID 28476025, Free PMC Article
    3. WAVE3 Induces EMT and Promotes Migration and Invasion in Intrahepatic Cholangiocarcinoma. Zhu Z, et al. Dig Dis Sci, 2016 Jul. PMID 26971088
    4. Inclusion of Scar/WAVE3 in a similar complex to Scar/WAVE1 and 2. Stovold CF, et al. BMC Cell Biol, 2005 Mar 7. PMID 15752430, Free PMC Article
    5. Overexpression of WAVE3 promotes tumor invasiveness and confers an unfavorable prognosis in human hepatocellular carcinoma. Ji Y, et al. Biomed Pharmacother, 2015 Feb. PMID 25661390

    See all (79) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. WAVE3 Facilitates the Tumorigenesis and Metastasis of Tongue Squamous Cell Carcinoma via EMT.
      Title: WAVE3 Facilitates the Tumorigenesis and Metastasis of Tongue Squamous Cell Carcinoma via EMT.
    2. The WAVE3/beta-catenin oncogenic signaling regulates chemoresistance in triple negative breast cancer.
      Title: The WAVE3/β-catenin oncogenic signaling regulates chemoresistance in triple negative breast cancer.
    3. Targeting the WASF3 complex to suppress metastasis.
      Title: Targeting the WASF3 complex to suppress metastasis.
    4. SHOX2 cooperates with STAT3 to promote breast cancer metastasis through the transcriptional activation of WASF3.
      Title: SHOX2 cooperates with STAT3 to promote breast cancer metastasis through the transcriptional activation of WASF3.
    5. Phosphorylation of the proline-rich domain of WAVE3 drives its oncogenic activity in breast cancer.
      Title: Phosphorylation of the proline-rich domain of WAVE3 drives its oncogenic activity in breast cancer.
    6. Targeting WASF3 Signaling in Metastatic Cancer.
      Title: Targeting WASF3 Signaling in Metastatic Cancer.
    7. WAVE3 upregulation in esophageal squamous cell carcinoma and its effect on the migration of human esophageal cancer cell lines in vitro.
      Title: WAVE3 upregulation in esophageal squamous cell carcinoma and its effect on the migration of human esophageal cancer cell lines in vitro.
    8. Asiatic Acid Interferes with Invasion and Proliferation of Breast Cancer Cells by Inhibiting WAVE3 Activation through PI3K/AKT Signaling Pathway.
      Title: Asiatic Acid Interferes with Invasion and Proliferation of Breast Cancer Cells by Inhibiting WAVE3 Activation through PI3K/AKT Signaling Pathway.
    9. WASF3 silencing promotes proliferation, migration and invasiveness of gastric cancer cells; its knockdown depended on the inhibition of Atg12-mediated autophagy
      Title: WASF3 Knockdown Sensitizes Gastric Cancer Cells to Oxaliplatin by Inhibiting ATG12-Mediated Autophagy.
    10. These findings suggest that miR-93 functions as a metastasis suppressor and WASF3 was identified as a functional target of miR-93
      Title: MicroRNA-93 targets WASF3 and functions as a metastasis suppressor in breast cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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    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_001291965.1 → NP_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:434 → 499
      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_006646.6 → NP_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:437 → 502
      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_024449315.2 → XP_024305083.1  actin-binding protein WASF3 isoform X1

      UniProtKB/Swiss-Prot
      O94974, Q86VQ2, Q9UPY6
      UniProtKB/TrEMBL
      Q5T8P4
      Conserved Domains (1) summary
      cd22073
      Location:437 → 502
      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_047430060.1 → XP_047286016.1  actin-binding protein WASF3 isoform X1

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

    3. XM_047430064.1 → XP_047286020.1  actin-binding protein WASF3 isoform X2

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

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

    5. XM_047430063.1 → XP_047286019.1  actin-binding protein WASF3 isoform X2

    6. XM_011534889.3 → XP_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:437 → 502
      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_047430062.1 → XP_047286018.1  actin-binding protein WASF3 isoform X2

    8. XM_011534890.2 → XP_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:437 → 502
      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_054374047.1 → XP_054230022.1  actin-binding protein WASF3 isoform X1

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

    2. XM_054374048.1 → XP_054230023.1  actin-binding protein WASF3 isoform X1

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

    3. XM_054374051.1 → XP_054230026.1  actin-binding protein WASF3 isoform X2

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

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

    5. XM_054374050.1 → XP_054230025.1  actin-binding protein WASF3 isoform X2

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

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

    7. XM_054374049.1 → XP_054230024.1  actin-binding protein WASF3 isoform X2

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

      UniProtKB/Swiss-Prot
      O94974, Q86VQ2, Q9UPY6
      UniProtKB/TrEMBL
      Q5T8P4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UPY6.2 GenPept UniProtKB/Swiss-Prot:Q9UPY6

    Gene LinkOut

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