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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
  • WAS Protein Family, Member 1 2 3
  • WASP Family Protein Member 1 3 4
  • Protein WAVE-1 3 4
  • SCAR1 3 4
  • WAVE1 3 4
  • Homology Of Dictyostelium Scar 1 3
  • 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 dependent personality disorder. Among its related pathways are Adherens junction and Bacterial invasion of epithelial cells. GO annotations related to this gene include actin binding and Rac GTPase binding. An important paralog of this gene is WASF3.

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.

Gene Wiki entry for WASF1 Gene

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

Genomics for WASF1 Gene

Regulatory Elements for WASF1 Gene

Enhancers for WASF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around WASF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for WASF1 Gene

Chromosome:
6
Start:
110,099,817 bp from pter
End:
110,189,874 bp from pter
Size:
90,058 bases
Orientation:
Minus strand

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 heterdimer 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

Proteomics data for WASF1 Gene at MOPED

Post-translational modifications for WASF1 Gene

  • Phosphorylated on tyrosine residues by ABL1 and dephosphorylated by PTPN12.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for WASF1 Gene

Domains & 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.
  • Contains 1 WH2 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.

Gene Ontology (GO) - Molecular Function for WASF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0032403 protein complex binding IMP 21107423
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

  • Taconic Biosciences Mouse Models 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). {ECO:0000269 PubMed:18559503, ECO:0000269 PubMed:9889097}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WASF1 Gene 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:0005741 mitochondrial outer membrane IEA --
GO:0030027 lamellipodium IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with WASF1: view

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:0016601 Rac protein signal transduction IMP 21107423
GO:0030041 actin filament polymerization TAS 9843499
GO:0072673 lamellipodium morphogenesis 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:

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 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, MOPED, and MaxQB for WASF1 Gene



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.
genes like me logo Genes that share expression patterns with WASF1: view

Protein tissue co-expression partners for WASF1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
cow
(Bos Taurus)
Mammalia WASF1 35
  • 96.06 (n)
  • 99.46 (a)
WASF1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WASF1 35
  • 96.54 (n)
  • 99.46 (a)
WASF1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wasf1 35
  • 91 (n)
  • 98.39 (a)
Wasf1 16
Wasf1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia WASF1 35
  • 99.58 (n)
  • 100 (a)
WASF1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wasf1 35
  • 88.85 (n)
  • 97.5 (a)
oppossum
(Monodelphis domestica)
Mammalia WASF1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia WASF1 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves WASF1 35
  • 82.83 (n)
  • 94.63 (a)
WASF1 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WASF1 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11165 35
wasf1 35
  • 76.38 (n)
  • 84.52 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24126 35
zebrafish
(Danio rerio)
Actinopterygii si:dkeyp-88f5.5 35
  • 72.9 (n)
  • 91.81 (a)
WASF1 36
  • 87 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta SCAR 37
  • 48 (a)
SCAR 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea wve-1 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2335 36
  • 38 (a)
OneToMany
Species with no ortholog for WASF1:
  • 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 Sequence Context AA Info Type
rs1046916 -- 110,136,404(-) GACAT(A/C)CGTAG intron-variant
rs1130783 -- 110,100,010(-) TATTG(G/T)TTTTA utr-variant-3-prime
rs4947048 -- 110,149,992(+) TATTA(C/G)AGATG intron-variant
rs4947049 -- 110,150,251(+) AATAA(C/T)CAGGA intron-variant
rs4947051 -- 110,162,884(+) ACACC(A/G)AAAGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv886535 CNV Loss 21882294
dgv2001e1 CNV Complex 17122850
nsv886536 CNV Loss 21882294
esv267753 CNV Insertion 20981092
nsv348708 CNV Loss 16902084
nsv436521 CNV Deletion 17901297
esv33528 CNV Loss 17666407
esv2676234 CNV Deletion 23128226
esv2732567 CNV Deletion 23290073

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)

Relevant External Links for WASF1 Gene

HapMap Linkage Disequilibrium report
WASF1

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

Disorders for WASF1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
wiskott-aldrich syndrome
  • wiskott syndrome
dependent personality disorder
nicotine dependence, protection against
  • nicotine dependence
avoidant personality disorder
  • anxious personality disorder
disease of mental health
  • mental disorders
- elite association - COSMIC cancer census association via MalaCards
Search WASF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for WASF1

Human Genome Epidemiology (HuGE) Navigator
WASF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 L.M. … Insall R.H. (Curr. Biol. 1998) 2 3 4 23 67
  2. WAVE, a novel WASP-family protein involved in actin reorganization induced by Rac. (PMID: 9843499) Miki H. … Takenawa T. (EMBO J. 1998) 2 3 23
  3. [Interaction of WAVE1 and genes involved in multiple drug resistance in children with acute myeloblastic leukemia]. (PMID: 20426950) Yang M.H. … Cao L.Z. (Zhonghua Er Ke Za Zhi 2010) 3 23
  4. [Role of WAVE1 in K562 leukemia cells invasion and its mechanism]. (PMID: 19731823) He Y.L. … Xu W.Q. (Zhonghua Xue Ye Xue Za Zhi 2009) 3 23
  5. WAVE1 controls neuronal activity-induced mitochondrial distribution in dendritic spines. (PMID: 18287015) Sung J.Y. … Kim Y. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 23

Products for WASF1 Gene

Sources for WASF1 Gene

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