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Aliases for WASF3 Gene

Aliases for WASF3 Gene

  • WAS Protein Family Member 3 2 3 5
  • Verprolin Homology Domain-Containing Protein 3 3 4
  • Protein WAVE-3 3 4
  • SCAR3 3 4
  • WAVE3 3 4
  • Wiskott-Aldrich Syndrome Protein Family Member 3 3
  • WASP Family Verprolin-Homologous Protein 3 3
  • WAS Protein Family, Member 3 2
  • WASP Family Protein Member 3 4
  • KIAA0900 4
  • Brush-1 3

External Ids for WASF3 Gene

Previous GeneCards Identifiers for WASF3 Gene

  • GC13P025111
  • GC13P021111
  • GC13P026061
  • GC13P024929
  • GC13P026029
  • GC13P027132
  • GC13P008010

Summaries for WASF3 Gene

Entrez Gene Summary for WASF3 Gene

  • 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]

GeneCards Summary for WASF3 Gene

WASF3 (WAS Protein Family Member 3) is a Protein Coding gene. Diseases associated with WASF3 include Wiskott-Aldrich Syndrome and Ganglioneuroblastoma. Among its related pathways are Innate Immune System and RET signaling. Gene Ontology (GO) annotations related to this gene include actin binding. An important paralog of this gene is WASF1.

UniProtKB/Swiss-Prot for WASF3 Gene

  • Downstream effector molecules involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.

Gene Wiki entry for WASF3 Gene

Additional gene information for WASF3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WASF3 Gene

Genomics for WASF3 Gene

GeneHancer (GH) Regulatory Elements for WASF3 Gene

Promoters and enhancers for WASF3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I026557 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 561.1 +0.4 398 1.8 ELF3 PKNOX1 ATF1 ARNT SIN3A ZNF335 GLIS2 EGR1 FOS CREM WASF3 RPS3AP44
GH13I026603 Promoter 0.5 EPDnew 561.5 +45.5 45465 0.1 WASF3 WASF3-AS1 RPS3AP44
GH13I027250 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 13.8 +694.6 694575 4.1 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B ZNF766 LINC02340 RPL21 GC13M027245 USP12 WASF3 PAN3 SNORA27 MTIF3 PIR55933
GH13I026583 Enhancer 0.8 Ensembl ENCODE 20.1 +26.9 26914 2 JUN BACH1 FOXA1 OSR2 ZNF335 JUND POLR2A GLIS1 PRDM10 WASF3 RPS3AP44 WASF3-AS1
GH13I026560 Enhancer 0.9 Ensembl ENCODE 12.7 +4.3 4341 2.2 SOX13 KLF17 MZF1 ZIC2 ZNF335 GLIS2 SCRT2 RCOR1 ATF7 ZNF600 WASF3 RPS3AP44
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around WASF3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for WASF3 Gene

Genomic Locations for WASF3 Gene
chr13:26,557,703-26,688,948
(GRCh38/hg38)
Size:
131,246 bases
Orientation:
Plus strand
chr13:27,131,840-27,263,085
(GRCh37/hg19)

Genomic View for WASF3 Gene

Genes around WASF3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WASF3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WASF3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WASF3 Gene

Proteins for WASF3 Gene

  • Protein details for WASF3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UPY6-WASF3_HUMAN
    Recommended name:
    Wiskott-Aldrich syndrome protein family member 3
    Protein Accession:
    Q9UPY6
    Secondary Accessions:
    • O94974
    • Q86VQ2

    Protein attributes for WASF3 Gene

    Size:
    502 amino acids
    Molecular mass:
    55293 Da
    Quaternary structure:
    • Binds actin and the Arp2/3 complex.
    SequenceCaution:
    • Sequence=BAA74923.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for WASF3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WASF3 Gene

Post-translational modifications for WASF3 Gene

  • Phosphorylation by ABL1 promotes lamellipodia formation and cell migration.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for WASF3 Gene

No data available for DME Specific Peptides for WASF3 Gene

Domains & Families for WASF3 Gene

Gene Families for WASF3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for WASF3 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9UPY6

UniProtKB/Swiss-Prot:

WASF3_HUMAN :
  • Binds the Arp2/3 complex through the C-terminal region and actin through verprolin homology (VPH) domain.
  • Belongs to the SCAR/WAVE family.
Domain:
  • Binds the Arp2/3 complex through the C-terminal region and actin through verprolin homology (VPH) domain.
Family:
  • Belongs to the SCAR/WAVE family.
genes like me logo Genes that share domains with WASF3: view

Function for WASF3 Gene

Molecular function for WASF3 Gene

GENATLAS Biochemistry:
WAS protein family,member 3,widely expressed,strongly in brain,associating with the Arp2/3 complex a nucleating core for actin polymerization in vitro
UniProtKB/Swiss-Prot Function:
Downstream effector molecules involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape.

Phenotypes From GWAS Catalog for WASF3 Gene

Gene Ontology (GO) - Molecular Function for WASF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with WASF3: view
genes like me logo Genes that share phenotypes with WASF3: view

Animal Models for WASF3 Gene

MGI Knock Outs for WASF3:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for WASF3 Gene

Localization for WASF3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WASF3 Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WASF3 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for WASF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0030027 lamellipodium IEA --
GO:0070062 extracellular exosome HDA,IDA 23533145
genes like me logo Genes that share ontologies with WASF3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for WASF3 Gene

Pathways & Interactions for WASF3 Gene

genes like me logo Genes that share pathways with WASF3: view

Pathways by source for WASF3 Gene

Gene Ontology (GO) - Biological Process for WASF3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly TAS 10381382
GO:0007010 cytoskeleton organization IMP 21834987
GO:0008360 regulation of cell shape IMP 21834987
GO:0014003 oligodendrocyte development IEA --
GO:0030032 lamellipodium assembly IEA --
genes like me logo Genes that share ontologies with WASF3: view

No data available for SIGNOR curated interactions for WASF3 Gene

Drugs & Compounds for WASF3 Gene

No Compound Related Data Available

Transcripts for WASF3 Gene

Unigene Clusters for WASF3 Gene

WAS protein family, member 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for WASF3 Gene

No ASD Table

Relevant External Links for WASF3 Gene

GeneLoc Exon Structure for
WASF3
ECgene alternative splicing isoforms for
WASF3

Expression for WASF3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WASF3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WASF3 Gene

This gene is overexpressed in Brain (27.8), Frontal cortex (18.6), and Hair follicle (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for WASF3 Gene



Protein tissue co-expression partners for WASF3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WASF3 Gene:

WASF3

SOURCE GeneReport for Unigene cluster for WASF3 Gene:

Hs.618732

mRNA Expression by UniProt/SwissProt for WASF3 Gene:

Q9UPY6-WASF3_HUMAN
Tissue specificity: Expressed in ovary and brain.

Evidence on tissue expression from TISSUES for WASF3 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with WASF3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for WASF3 Gene

Orthologs for WASF3 Gene

This gene was present in the common ancestor of animals.

Orthologs for WASF3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WASF3 33 34
  • 99.47 (n)
dog
(Canis familiaris)
Mammalia WASF3 33 34
  • 89.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia WASF3 34
  • 88 (a)
OneToOne
cow
(Bos Taurus)
Mammalia WASF3 33 34
  • 86.09 (n)
mouse
(Mus musculus)
Mammalia Wasf3 33 16 34
  • 85.36 (n)
oppossum
(Monodelphis domestica)
Mammalia WASF3 34
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wasf3 33
  • 79.84 (n)
chicken
(Gallus gallus)
Aves WASF3 34
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WASF3 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wasf3 33
  • 72.19 (n)
zebrafish
(Danio rerio)
Actinopterygii wasf3 33 34
  • 65.52 (n)
WASF3 (1 of 2) 34
  • 62 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta SCAR 35 34
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea wve-1 34
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2335 34
  • 42 (a)
OneToMany
Species where no ortholog for WASF3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for WASF3 Gene

ENSEMBL:
Gene Tree for WASF3 (if available)
TreeFam:
Gene Tree for WASF3 (if available)

Paralogs for WASF3 Gene

Paralogs for WASF3 Gene

(2) SIMAP similar genes for WASF3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with WASF3: view

Variants for WASF3 Gene

Sequence variations from dbSNP and Humsavar for WASF3 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1000024335 -- 26,572,546(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000034396 -- 26,650,823(+) A/C intron_variant
rs1000039124 -- 26,561,035(+) G/C genic_upstream_transcript_variant, intron_variant
rs1000064673 -- 26,616,531(+) A/T genic_upstream_transcript_variant, intron_variant
rs1000071280 -- 26,574,041(+) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for WASF3 Gene

Variant ID Type Subtype PubMed ID
esv2759928 CNV gain 17122850
esv3631609 CNV loss 21293372
esv3892322 CNV gain 25118596
nsv1143586 CNV deletion 24896259
nsv826597 CNV gain 20364138
nsv969 CNV insertion 18451855
nsv974070 CNV duplication 23825009

Variation tolerance for WASF3 Gene

Residual Variation Intolerance Score: 50.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.61; 65.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WASF3 Gene

Human Gene Mutation Database (HGMD)
WASF3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WASF3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WASF3 Gene

Disorders for WASF3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for WASF3 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wiskott-aldrich syndrome
  • was
ganglioneuroblastoma
trichomoniasis
  • trichomonas infection
- elite association - COSMIC cancer census association via MalaCards
Search WASF3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for WASF3

genes like me logo Genes that share disorders with WASF3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WASF3 Gene

Publications for WASF3 Gene

  1. Identification of two human WAVE/SCAR homologues as general actin regulatory molecules which associate with the Arp2/3 complex. (PMID: 10381382) Suetsugu S … Takenawa T (Biochemical and biophysical research communications 1999) 2 3 4 22 58
  2. Genomic organization and expression profile of the human and mouse WAVE gene family. (PMID: 12856283) Sossey-Alaoui K … Cowell JK (Mammalian genome : official journal of the International Mammalian Genome Society 2003) 3 4 22 58
  3. Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration. (PMID: 21834987) Bai SW … Ridley AJ (BMC biology 2011) 3 4 58
  4. WAVE3 is associated with invasiveness in prostate cancer cells. (PMID: 19395286) Fernando HS … Jiang WG (Urologic oncology 2010) 3 22 58
  5. c-Abl-mediated phosphorylation of WAVE3 is required for lamellipodia formation and cell migration. (PMID: 17623672) Sossey-Alaoui K … Cowell JK (The Journal of biological chemistry 2007) 3 4 58

Products for WASF3 Gene

Sources for WASF3 Gene

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