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

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: mouse all
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Genomic context

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_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Targeting the WASF3 complex to suppress metastasis.
Title: Targeting the WASF3 complex to suppress metastasis.
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.
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.
Targeting WASF3 Signaling in Metastatic Cancer.
Title: Targeting WASF3 Signaling in Metastatic Cancer.
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.
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.
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.
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

WI-22261 (e-PCR)
- UniSTS:45139

STS-Z40472 (e-PCR)
- UniSTS:22636

A008C17 (e-PCR)
- UniSTS:6016

D13S861E (e-PCR)
- UniSTS:151524

RH46898 (e-PCR)
- UniSTS:79595

G20666 (e-PCR)
- UniSTS:23037

A006B03 (e-PCR)
- UniSTS:23038

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 more info	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)

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)
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

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

26539139..26688948

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
XM_047430060.1 → XP_047286016.1 actin-binding protein WASF3 isoform X1

UniProtKB/Swiss-Prot

O94974, Q86VQ2, Q9UPY6

UniProtKB/TrEMBL

Q5T8P4
XM_047430064.1 → XP_047286020.1 actin-binding protein WASF3 isoform X2
XM_047430059.1 → XP_047286015.1 actin-binding protein WASF3 isoform X1

UniProtKB/Swiss-Prot

O94974, Q86VQ2, Q9UPY6

UniProtKB/TrEMBL

Q5T8P4
XM_047430063.1 → XP_047286019.1 actin-binding protein WASF3 isoform X2
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)
XM_047430062.1 → XP_047286018.1 actin-binding protein WASF3 isoform X2
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

NC_060937.1 Alternate T2T-CHM13v2.0

Range

25753035..25902898

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

O94974, Q86VQ2, Q9UPY6

UniProtKB/TrEMBL

Q5T8P4
XM_054374048.1 → XP_054230023.1 actin-binding protein WASF3 isoform X1

UniProtKB/Swiss-Prot

O94974, Q86VQ2, Q9UPY6

UniProtKB/TrEMBL

Q5T8P4
XM_054374051.1 → XP_054230026.1 actin-binding protein WASF3 isoform X2
XM_054374045.1 → XP_054230020.1 actin-binding protein WASF3 isoform X1

UniProtKB/Swiss-Prot

O94974, Q86VQ2, Q9UPY6

UniProtKB/TrEMBL

Q5T8P4
XM_054374050.1 → XP_054230025.1 actin-binding protein WASF3 isoform X2
XM_054374044.1 → XP_054230019.1 actin-binding protein WASF3 isoform X1

UniProtKB/Swiss-Prot

O94974, Q86VQ2, Q9UPY6

UniProtKB/TrEMBL

Q5T8P4
XM_054374049.1 → XP_054230024.1 actin-binding protein WASF3 isoform X2
XM_054374046.1 → XP_054230021.1 actin-binding protein WASF3 isoform X1

UniProtKB/Swiss-Prot

O94974, Q86VQ2, Q9UPY6

UniProtKB/TrEMBL

Q5T8P4