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

Gene ID: 10810, updated on 2-Nov-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
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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)

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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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

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