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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

WASF1 Gene

protein-coding   GIFtS: 64
GCID: GC06M110421

WAS Protein Family, Member 1

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
WAS Protein Family, Member 11 2     WASP Family Protein Member 12 3
SCAR12 3 5     WAVE2 5
WAVE12 3 5     Homology Of Dictyostelium Scar 12
Protein WAVE-12 3     Wiskott-Aldrich Syndrome Protein Family Member 12
Verprolin Homology Domain-Containing Protein 12 3     KIAA02693

External Ids:    HGNC: 127321   Entrez Gene: 89362   Ensembl: ENSG000001122907   OMIM: 6050355   UniProtKB: Q925583   

Export aliases for WASF1 gene to outside databases

Previous GC identifers: GC06M110256 GC06M110443 GC06M110466 GC06M110527 GC06M107987


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 acute lymphocytic leukemia, and among its related super-pathways are Regulation of actin cytoskeleton and Regulation of actin dynamics for phagocytic cup formation. GO annotations related to this gene include protein binding and actin binding. An important paralog of this gene is WASF2.

UniProtKB/Swiss-Prot: WASF1_HUMAN, Q92558
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 Wiki entry for WASF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the WASF1 gene promoter:
         HFH-3   AML1a   Nkx2-5   Egr-4   Evi-1   FOXI1   AREB6   S8   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWASF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for WASF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WASF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q21   Ensembl cytogenetic band:  6q21   HGNC cytogenetic band: 6q21

WASF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WASF1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M110421:  view genomic region     (about GC identifiers)

Start:
110,421,022 bp from pter      End:
110,501,207 bp from pter
Size:
80,186 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: WASF1_HUMAN, Q92558 (See protein sequence)
Recommended Name: Wiskott-Aldrich syndrome protein family member 1  
Size: 559 amino acids; 61652 Da
Subunit: 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 (By similarity). Binds actin and the Arp2/3 complex. Interacts with BAIAP2
Subcellular location: Cytoplasm, cytoskeleton. Note=Dot-like pattern in the cytoplasm. Concentrated in
Rac-regulated membrane-ruffling areas
Sequence caution: Sequence=BAA13399.2; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for WASF1:
3P8C (3D)    
Secondary accessions: E1P5F2 Q5SZK7

Explore the universe of human proteins at neXtProt for WASF1: NX_Q92558

Explore proteomics data for WASF1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92558

  • WASF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    WASF1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001020105.1  NP_001020106.1  NP_001020107.1  NP_003922.1  

    ENSEMBL proteins: 
     ENSP00000376366   ENSP00000376365   ENSP00000407041   ENSP00000265601   ENSP00000357934  
     ENSP00000402663   ENSP00000404142   ENSP00000376368   ENSP00000376367   ENSP00000352425  
    Reactome Protein details: Q92558
    Human Recombinant Protein Products for WASF1: 
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    Cloud-Clone Corp. Proteins for WASF1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005741mitochondrial outer membrane ----
    GO:0005856cytoskeleton TAS10970852
    GO:0015629actin cytoskeleton TAS9843499
    GO:0030027lamellipodium ----

    WASF1 for ontologies           About GeneDecksing



    WASF1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    AKAP: A-kinase anchor proteins

    1 InterPro protein domain:
     IPR003124 WH2_dom

    Graphical View of Domain Structure for InterPro Entry Q92558

    ProtoNet protein and cluster: Q92558

    1 Blocks protein domain: IPB003124 Actin-binding WH2

    UniProtKB/Swiss-Prot: WASF1_HUMAN, Q92558
    Domain: Binds the Arp2/3 complex through the C-terminal region and actin through verprolin homology (VPH) domain
    Similarity: Belongs to the SCAR/WAVE family
    Similarity: Contains 1 WH2 domain


    WASF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: WASF1_HUMAN, Q92558
    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

         Genatlas biochemistry entry for WASF1:
    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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI9843499
         
    WASF1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for WASF1:
     Increased G1 DNA content 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Wasf1):
     behavior/neurological  digestive/alimentary  growth/size  liver/biliary system  mortality/aging 
     muscle  nervous system 

    WASF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Wasf1tm1Jsco for WASF1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for WASF1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for WASF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for WASF1 
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    SwitchGear 3'UTR luciferase reporter plasmidWASF1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for WASF1 About   (see all 20)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of Actin Cytoskeleton
    Regulation of Actin Cytoskeleton0.57
    Regulation of actin cytoskeleton0.57
    2Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation0.80
    Fcgamma receptor (FCGR) dependent phagocytosis0.80
    3Actin Nucleation by ARP-WASP Complex
    Actin Nucleation by ARP-WASP Complex0.66
    RhoA Pathway0.35
    4Apoptotic Pathways in Synovial Fibroblasts
    Rac1 Pathway0.65
    Actin-Based Motility by Rho Family GTPases0.62
    5Immune System
    Immune System0.56
    Innate Immune System0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for WASF1
        G-protein signaling RAC1 in cellular process
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    Signal transduction PKA signaling

    5/9 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for WASF1 (see all 9)
        RhoA Pathway
    Actin-Based Motility by Rho Family GTPases
    Internalin Pathway
    Transendothelial Migration of Leukocytes
    Actin Nucleation by ARP-WASP Complex

    3 GeneGo (Thomson Reuters) Pathways for WASF1
        Signal transduction PKA signaling
    Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
    G-protein signaling RAC1 in cellular process

    3 BioSystems Pathways for WASF1
        Regulation of Actin Cytoskeleton
    E2F transcription factor network
    RAC1 signaling pathway

    4        Reactome Pathways for WASF1
        Regulation of actin dynamics for phagocytic cup formation
    Fcgamma receptor (FCGR) dependent phagocytosis
    Immune System
    Innate Immune System


    5/6         Kegg Pathways  (Kegg details for WASF1) (see all 6):
        Adherens junction
    Fc gamma R-mediated phagocytosis
    Regulation of actin cytoskeleton
    Bacterial invasion of epithelial cells
    Shigellosis


    WASF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for WASF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/61 Interacting proteins for WASF1 (Q925581, 2, 3 ENSP000003524254) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-16419 MINT-16418 MINT-16420 I2D: score=3 STRING: ENSP00000361423
    PFN1P077371, 3, ENSP000002256554EBI-1548747,EBI-713780 I2D: score=3 STRING: ENSP00000225655
    BRK1Q8WUW12, 3MINT-17058 I2D: score=2 
    NCKAP1Q9Y2A72, 3, ENSP000003542514MINT-8307391 MINT-15828 I2D: score=3 STRING: ENSP00000354251
    CYFIP2Q96F072, 3, ENSP000003909484MINT-14901 I2D: score=3 STRING: ENSP00000390948
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly NAS10381382
    GO:0006928cellular component movement TAS2775266
    GO:0030041actin filament polymerization TAS9843499

    WASF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for WASF1

    Search CenterWatch for drugs/clinical trials and news about WASF1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for WASF1 gene (4 alternative transcripts): 
    NM_001024934.1  NM_001024935.1  NM_001024936.1  NM_003931.2  

    Unigene Cluster for WASF1:

    WAS protein family, member 1
    Hs.75850  [show with all ESTs]
    Unigene Representative Sequence: NM_003931
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392587 ENST00000392586 ENST00000444391 ENST00000265601 ENST00000368938
    ENST00000447287 ENST00000419252 ENST00000392589(uc003ptv.1) ENST00000392588(uc003ptw.1)
    ENST00000359451(uc003ptx.1 uc003pty.1 uc003ptz.1)

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    Additional mRNA sequence: 

    AF134303.1 AK097838.1 BC044591.1 BC068546.1 D87459.1 

    20 DOTS entries:

    DT.97786672  DT.65284123  DT.95178572  DT.100736715  DT.95359203  DT.451630  DT.40116047  DT.100730920 
    DT.100792169  DT.121322679  DT.100047436  DT.121322706  DT.121322771  DT.121322718  DT.97781907  DT.100658902 
    DT.121322689  DT.121322726  DT.121322836  DT.75173015 

    24/122 AceView cDNA sequences (see all 122):

    F10585 CR601979 AK097838 AW590436 AF134303 BX477915 AU142666 CD171651 
    BC044591 CR622893 AI928895 AW612159 BX425187 NM_003931 CB215686 AI306688 
    BI461486 D87459 BM458302 AW664122 BE463994 AW071606 BG778594 BI462401 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for WASF1    About this scheme

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


    ECgene alternative splicing isoforms for WASF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    WASF1 expression in normal human tissues (normalized intensities)      WASF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAACTTACAT
    WASF1 Expression
    About this image


    WASF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Thalamus
             Olfactory Bulb   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Ventral Horn   

    See WASF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for WASF1

    SOURCE GeneReport for Unigene cluster: Hs.75850

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including WASF1: 
              Cytoskeleton Regulators in human mouse rat
              Adherens Junctions in human mouse rat
              Cell Motility in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WASF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for WASF1 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wasf11 , 5 WASP family 15
    WAS protein family, member 11
    91(n)1
    98.39(a)1
      10 (22.07 cM)5
    837671  NM_031877.31  NP_114083.11 
     408834755 
    chicken
    (Gallus gallus)
    Aves WASF11 WAS protein family, member 1 82.95(n)
    94.81(a)
      421761  XM_419791.3  XP_419791.1 
    lizard
    (Anolis carolinensis)
    Reptilia WASF16
    Uncharacterized protein
    91(a)
    1 ↔ 1
    1(191461288-191492470)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.241262 Xenopus laevis transcribed sequence with moderate similarity more 74.16(n)    BU901885.1 
    zebrafish
    (Danio rerio)
    Actinopterygii WASF16
    --
    (see all 3)
    --
    89(a)
    57(a)
    (see all 3)
    1 ↔ 1
    possible ortholog
    (see all 3)
    20(53656660-53671303)
    20(53459057-53460765)
    fruit fly
    (Drosophila melanogaster)
    Insecta SCAR3 actin binding 48(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea B0280.26
    B0280.136
    (see all 6)
    Protein B0280.13
    (see all 6)
    8(a)
    8(a)
    (see all 6)
    possible ortholog
    possible ortholog
    (see all 6)
    III(7124664-7128382)
    III(7128899-7132048)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LAS176
    Actin assembly factor, activates the Arp2/3 protei...
    12(a)
    1 → many
    XV(675939-677840)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for WASF1 gene
    WASF22  WASF32  
    2 SIMAP similar genes for WASF1 using alignment to 4 protein entries:     WASF1_HUMAN (see all proteins):
    WASF2    WASF3

    WASF1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for WASF1
    PGOHUM00000240837


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1393 SNPs in WASF1 are shown (see all 1393)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1132739341,2
    F--110420610(+) TTTTTG/ATAGAG 4 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1839956661,2
    --110420818(+) CCACAA/GGCAGT 4 -- ds50010--------
    rs1120091191,2
    F--110420920(+) ATTATG/ATAGCC 4 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs1500493891,2
    --110420986(+) AAATTA/GTGATA 4 -- ds50010--------
    rs1454120941,2
    --110420994(+) ATAAAC/TCATTT 4 -- ds50010--------
    rs1410881441,2
    --110421073(+) AGTTAG/TGTAAG 4 -- ut310--------
    rs1469367901,2
    C--110421128(+) TAACTC/TCTATA 4 -- ut310--------
    rs1452104381,2
    C--110421230(+) TAATG-/AAAAAA 4 -- ut310--------
    rs1379371451,2
    --110421277(+) CTAAAC/TGTACT 4 -- ut310--------
    rs1153223341,2
    C,F--110421286(+) CTTTCT/CGAGTG 4 -- ut311Minor allele frequency- C:0.03WA 118

    HapMap Linkage Disequilibrium report for WASF1 (110421022 - 110501207 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for WASF1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2676234CNV Deletion23128226
    esv2732567CNV Deletion23290073
    nsv436521CNV Deletion17901297
    esv267753CNV Insertion20981092
    esv33528CNV Loss17666407
    nsv886536CNV Loss21882294
    nsv348708CNV Loss16902084
    nsv886535CNV Loss21882294
    dgv2001e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605035    OMIM disorders: --

    14 diseases for WASF1:    About MalaCards
    wiskott-aldrich syndrome    acute lymphocytic leukemia    shigellosis    gout
    mental retardation    multiple sclerosis    tuberculosis    alzheimer's disease
    ovarian cancer    leukemia    endotheliitis    pancreatitis
    breast cancer    neuronitis


    WASF1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for WASF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    scar1 94.6 34 9889097 (8), 12601690 (6), 11747816 (6), 12429845 (4) (see all 5)
    wiskott-aldrich syndrome 91.9 16 12601690 (1), 12853106 (1), 18287015 (1), 9889097 (1) (see all 16)
    scar 54.5 5 11282031 (1), 17314411 (1), 14765121 (1), 12482910 (1) (see all 5)
    mental retardation 15.5 2 12578964 (1), 17215396 (1)

    Human Genome Epidemiology (HuGE) Navigator: WASF1 (1 document)

    Export disorders for WASF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for WASF1 gene, integrated from 9 sources (see all 97):
    (articles sorted by number of sources associating them with WASF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Scar1 and the related Wiskott-Aldrich syndrome protein, WASP, regulate the actin cytoskeleton through the Arp2/3 complex. (PubMed id 9889097)1, 2, 3, 9 Machesky L.M. and Insall R.H. (1998)
    2. WAVE, a novel WASP-family protein involved in actin reorganization induced by Rac. (PubMed id 9843499)1, 3, 9 Miki H....Takenawa T. (1998)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. IRSp53 is an essential intermediate between Rac and WAVE in the regulation of membrane ruffling. (PubMed id 11130076)1, 2 Miki H.... Takenawa T. (2000)
    5. SCAR, a WASP-related protein, isolated as a suppressor of receptor defects in late Dictyostelium development. (PubMed id 9732292)1, 2 Bear J.E.... Saxe C.L. III (1998)
    6. Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain. (PubMed id 9039502)1, 2 Nagase T....Nomura N. (1996)
    7. [Interaction of WAVE1 and genes involved in multiple drug resistance in children with acute myeloblastic leukemia] (PubMed id 20426950)1, 9 Yang M.H....Cao L.Z. (2010)
    8. [Expression of WAVE1 in childhood acute lymphocytic leukemia and in the apoptosis of Jurkat cells induced by adriamycin.] (PubMed id 18947485)1, 9 Wang Z....Xu W.Q. (2008)
    9. [Role of WAVE1 in K562 leukemia cells invasion and it s mechanism] (PubMed id 19731823)1, 9 He Y.L....Xu W.Q. (2009)
    10. Identification of two human WAVE/SCAR homologues as general actin regulatory molecules which associate with the Arp2/3 complex. (PubMed id 10381382)1, 9 Suetsugu S.... Takenawa T. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8936 HGNC: 12732 AceView: WASF1 Ensembl:ENSG00000112290 euGenes: HUgn8936
    ECgene: WASF1 Kegg: 8936 H-InvDB: WASF1

    (According to HUGE)
    About This Section
    HUGE: KIAA0269

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for WASF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for WASF1 gene:
    Search GeneIP for patents involving WASF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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