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Aliases for WASF1 Gene

Aliases for WASF1 Gene

  • WAS Protein Family Member 1 2 3 5
  • Verprolin Homology Domain-Containing Protein 1 3 4
  • WASP Family Protein Member 1 3 4
  • Protein WAVE-1 3 4
  • SCAR1 3 4
  • WAVE1 3 4
  • Wiskott-Aldrich Syndrome Protein Family Member 1 3
  • Homology Of Dictyostelium Scar 1 3
  • WAS Protein Family, Member 1 2
  • KIAA0269 4
  • WAVE 3

External Ids for WASF1 Gene

Previous GeneCards Identifiers for WASF1 Gene

  • GC06M110256
  • GC06M110443
  • GC06M110466
  • GC06M110527
  • GC06M107987
  • GC06M110421

Summaries for WASF1 Gene

Entrez Gene Summary for WASF1 Gene

  • The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for WASF1 Gene

WASF1 (WAS Protein Family Member 1) is a Protein Coding gene. Diseases associated with WASF1 include Wiskott-Aldrich Syndrome and Spinocerebellar Ataxia, Autosomal Recessive 1. Among its related pathways are PAK Pathway and Innate Immune System. Gene Ontology (GO) annotations related to this gene include actin binding and Rac GTPase binding. An important paralog of this gene is WASF2.

UniProtKB/Swiss-Prot for WASF1 Gene

  • Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex (By similarity). As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity).

Gene Wiki entry for WASF1 Gene

Additional gene information for WASF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WASF1 Gene

Genomics for WASF1 Gene

GeneHancer (GH) Regulatory Elements for WASF1 Gene

Promoters and enhancers for WASF1 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
GH06I110178 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 568.9 +9.4 9382 4.2 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 WASF1 CDC40 ZBTB24 CD164 SMPD2 CNN2P9 FIG4
GH06I110285 Enhancer 0.5 FANTOM5 15.3 -95.3 -95269 0.2 MXI1 POLR2A FOXP2 RCOR1 GC06M110279 CDC40 WASF1 LOC102724586 METTL24
GH06I110140 Enhancer 0.7 ENCODE 10.4 +48.9 48931 1.7 L3MBTL2 SOX6 CEBPB CEBPG EP300 ZNF395 FOSL1 ATF4 JUND ZNF766 PIR45173 WASF1 GC06P110094
GH06I110183 Enhancer 0.4 Ensembl 17.6 +6.4 6373 0.2 CEBPB HNF4A WASF1 CDC40
GH06I110135 Enhancer 0.3 FANTOM5 21.7 +54.3 54306 0.4 WASF1 METTL24 CDC40 PIR45173 GC06P110094
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around WASF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WASF1 gene promoter:

Genomic Locations for WASF1 Gene

Genomic Locations for WASF1 Gene
chr6:110,099,817-110,189,874
(GRCh38/hg38)
Size:
90,058 bases
Orientation:
Minus strand
chr6:110,421,022-110,501,207
(GRCh37/hg19)

Genomic View for WASF1 Gene

Genes around WASF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WASF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WASF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WASF1 Gene

Proteins for WASF1 Gene

  • Protein details for WASF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92558-WASF1_HUMAN
    Recommended name:
    Wiskott-Aldrich syndrome protein family member 1
    Protein Accession:
    Q92558
    Secondary Accessions:
    • E1P5F2
    • Q5SZK7

    Protein attributes for WASF1 Gene

    Size:
    559 amino acids
    Molecular mass:
    61652 Da
    Quaternary structure:
    • Component of the WAVE1 complex composed of ABI2, CYFIP1 or CYFIP2, BRK1, NCKAP1 and WASF1/WAVE1. Within the complex, a heterodimer containing NCKAP1 and CYFIP1 interacts with a heterotrimer formed by WAVE1, ABI2 and BRK1. CYFIP2 binds to activated RAC1 which causes the complex to dissociate, releasing activated WASF1. The complex can also be activated by NCK1. Binds actin and the Arp2/3 complex. Interacts with BAIAP2. Interacts with SHANK3; the interaction mediates the association of SHANK3 with the WAVE1 complex. Interacts with ABI1 (via N-terminus). Interacts with SORBS2; this interaction greatly enhances phosphorylation by ABL1 and dephosphorylation by PTPN12 and might mediate partial to focal adhesion sites.
    SequenceCaution:
    • Sequence=BAA13399.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for WASF1 Gene

neXtProt entry for WASF1 Gene

Post-translational modifications for WASF1 Gene

  • Phosphorylated on tyrosine residues by ABL1 and dephosphorylated by PTPN12.

No data available for DME Specific Peptides for WASF1 Gene

Domains & Families for WASF1 Gene

Gene Families for WASF1 Gene

Protein Domains for WASF1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q92558

UniProtKB/Swiss-Prot:

WASF1_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 WASF1: view

Function for WASF1 Gene

Molecular function for WASF1 Gene

GENATLAS Biochemistry:
WAS protein family,member1,widely expressed,strongly in brain,associating with the Arp2/3 complex a nucleating core for actin polymerization in vitro,potentially involved in the regulation of RAC induced of actin cytoskeleton required for membrane ruffling
UniProtKB/Swiss-Prot Function:
Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex (By similarity). As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity).

Phenotypes From GWAS Catalog for WASF1 Gene

Gene Ontology (GO) - Molecular Function for WASF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 9843499
GO:0032403 protein complex binding IMP 21107423
GO:0048365 contributes_to Rac GTPase binding IMP 21107423
GO:0051018 protein kinase A binding IPI 25097019
genes like me logo Genes that share ontologies with WASF1: view
genes like me logo Genes that share phenotypes with WASF1: view

Animal Models for WASF1 Gene

MGI Knock Outs for WASF1:

Animal Model Products

Clone Products

  • Addgene plasmids for WASF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for WASF1 Gene

Localization for WASF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WASF1 Gene

Cytoplasm, cytoskeleton. Cell junction, synapse. Cell junction, focal adhesion. Note=Dot-like pattern in the cytoplasm. Concentrated in Rac-regulated membrane-ruffling areas (PubMed:9889097). Partial translocation to focal adhesion sites might be mediated by interaction with SORBS2 (PubMed:18559503). In neurons, colocalizes with activated NTRK2 after BDNF addition in endocytic sites through the association with TMEM108 (By similarity). {ECO:0000250 UniProtKB:Q8R5H6, ECO:0000269 PubMed:18559503, ECO:0000269 PubMed:9889097}.

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 WASF1 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 3
nucleus 3
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for WASF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IEA --
GO:0005856 cytoskeleton TAS 10970852
GO:0005925 focal adhesion IEA --
genes like me logo Genes that share ontologies with WASF1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for WASF1 Gene

Pathways & Interactions for WASF1 Gene

genes like me logo Genes that share pathways with WASF1: view

SIGNOR curated interactions for WASF1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for WASF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly NAS 10381382
GO:0006898 receptor-mediated endocytosis ISS,IEA --
GO:0006928 movement of cell or subcellular component TAS 2775266
GO:0016601 Rac protein signal transduction IMP 21107423
GO:0030036 actin cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with WASF1: view

Drugs & Compounds for WASF1 Gene

No Compound Related Data Available

Transcripts for WASF1 Gene

Unigene Clusters for WASF1 Gene

WAS protein family, member 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for WASF1

Alternative Splicing Database (ASD) splice patterns (SP) for WASF1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b
SP1: - - - -
SP2: - - -
SP3: - -
SP4:

Relevant External Links for WASF1 Gene

GeneLoc Exon Structure for
WASF1
ECgene alternative splicing isoforms for
WASF1

Expression for WASF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WASF1 Gene

mRNA differential expression in normal tissues according to GTEx for WASF1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.0), Brain - Hippocampus (x4.4), Brain - Anterior cingulate cortex (BA24) (x4.4), and Brain - Nucleus accumbens (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for WASF1 Gene

This gene is overexpressed in Frontal cortex (30.6), Fetal Brain (22.2), and Brain (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for WASF1 Gene



Protein tissue co-expression partners for WASF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WASF1 Gene:

WASF1

SOURCE GeneReport for Unigene cluster for WASF1 Gene:

Hs.75850

mRNA Expression by UniProt/SwissProt for WASF1 Gene:

Q92558-WASF1_HUMAN
Tissue specificity: Highly expressed in brain. Lowly expressed in testis, ovary, colon, kidney, pancreas, thymus, small intestine and peripheral blood.

Evidence on tissue expression from TISSUES for WASF1 Gene

  • Nervous system(4.9)
  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with WASF1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for WASF1 Gene

Orthologs for WASF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for WASF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WASF1 33 34
  • 99.58 (n)
dog
(Canis familiaris)
Mammalia WASF1 33 34
  • 96.54 (n)
cow
(Bos Taurus)
Mammalia WASF1 33 34
  • 96.06 (n)
mouse
(Mus musculus)
Mammalia Wasf1 33 16 34
  • 91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia WASF1 34
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia WASF1 34
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wasf1 33
  • 88.85 (n)
chicken
(Gallus gallus)
Aves WASF1 33 34
  • 82.83 (n)
lizard
(Anolis carolinensis)
Reptilia WASF1 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia wasf1 33
  • 76.38 (n)
Str.11165 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24126 33
zebrafish
(Danio rerio)
Actinopterygii WASF1 34
  • 87 (a)
OneToOne
si:dkeyp-88f5.5 33
  • 72.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta SCAR 35 34
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea wve-1 34
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2335 34
  • 38 (a)
OneToMany
Species where no ortholog for WASF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 WASF1 Gene

ENSEMBL:
Gene Tree for WASF1 (if available)
TreeFam:
Gene Tree for WASF1 (if available)

Paralogs for WASF1 Gene

Paralogs for WASF1 Gene

(2) SIMAP similar genes for WASF1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for WASF1 Gene

genes like me logo Genes that share paralogs with WASF1: view

Variants for WASF1 Gene

Sequence variations from dbSNP and Humsavar for WASF1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000124871 -- 110,168,633(-) A/G intron_variant
rs1000154908 -- 110,147,944(-) G/A intron_variant
rs1000225595 -- 110,146,827(-) T/C intron_variant
rs1000235217 -- 110,147,616(-) T/C intron_variant
rs1000241176 -- 110,141,153(-) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for WASF1 Gene

Variant ID Type Subtype PubMed ID
nsv476214 CNV novel sequence insertion 20440878
nsv436521 CNV deletion 17901297
nsv348708 CNV deletion 16902084
esv3610349 CNV loss 21293372
esv3540305 CNV deletion 23714750
esv3445217 CNV insertion 20981092
esv33528 CNV loss 17666407
esv3303474 CNV mobile element insertion 20981092
esv2759462 CNV loss 17122850
esv2732567 CNV deletion 23290073
esv2676234 CNV deletion 23128226

Variation tolerance for WASF1 Gene

Residual Variation Intolerance Score: 12.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.97; 19.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WASF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
WASF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WASF1 Gene

Disorders for WASF1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for WASF1 Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search WASF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for WASF1

genes like me logo Genes that share disorders with WASF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for WASF1 Gene

Publications for WASF1 Gene

  1. Scar1 and the related Wiskott-Aldrich syndrome protein, WASP, regulate the actin cytoskeleton through the Arp2/3 complex. (PMID: 9889097) Machesky LM … Insall RH (Current biology : CB 1998) 2 3 4 22 58
  2. WAVE, a novel WASP-family protein involved in actin reorganization induced by Rac. (PMID: 9843499) Miki H … Takenawa T (The EMBO journal 1998) 2 3 22 58
  3. Structure and control of the actin regulatory WAVE complex. (PMID: 21107423) Chen Z … Rosen MK (Nature 2010) 3 4 58
  4. [Interaction of WAVE1 and genes involved in multiple drug resistance in children with acute myeloblastic leukemia]. (PMID: 20426950) Yang MH … Cao LZ (Zhonghua er ke za zhi = Chinese journal of pediatrics 2010) 3 22 58
  5. [Role of WAVE1 in K562 leukemia cells invasion and its mechanism]. (PMID: 19731823) He YL … Xu WQ (Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2009) 3 22 58

Products for WASF1 Gene

Sources for WASF1 Gene

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