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WIPF1 Gene

protein-coding   GIFtS: 61
GCID: GC02M175424

WAS/WASL Interacting Protein Family, Member 1

(Previous name: Wiskott-Aldrich syndrome protein interacting protein)
(Previous symbol: WASPIP)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
WAS/WASL Interacting Protein Family, Member 11 2     WASP-Interacting Protein2 3
WASPIP1 2 3 5     PRPL-22
WIP2 3 5     WAS/WASL-Interacting Protein Family Member 12
Wiskott-Aldrich Syndrome Protein Interacting Protein1 2     Wiskott-Aldrich Syndrome Protein-Interacting Protein3
Protein PRPL-22 3     

External Ids:    HGNC: 127361   Entrez Gene: 74562   Ensembl: ENSG000001159357   OMIM: 6023575   UniProtKB: O435163   

Export aliases for WIPF1 gene to outside databases

Previous GC identifers: GC02M175133 GC02M167305


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for WIPF1 Gene:
This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The
encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in
Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two
proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified
for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for WIPF1 Gene:
WIPF1 (WAS/WASL interacting protein family, member 1) is a protein-coding gene. Diseases associated with WIPF1 include wiskott-aldrich syndrome 2, and wiskott-aldrich syndrome. GO annotations related to this gene include actin binding and profilin binding. An important paralog of this gene is WIPF2.

UniProtKB/Swiss-Prot: WIPF1_HUMAN, O43516
Function: Plays a role in the reorganization of the actin cytoskeleton. Contributes with NCK1 and GRB2 in the
recruitment and activation of WASL. May participate in regulating the subcellular localization of WASL, resulting
in the disassembly of stress fibers in favor of filopodia formation. Plays a role in the formation of cell
ruffles (By similarity). Plays an important role in the intracellular motility of vaccinia virus by functioning
as an adapter for recruiting WASL to vaccinia virus

Gene Wiki entry for WIPF1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the WIPF1 gene promoter:
         POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   POU2F2   POU2F2C   AREB6   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidWIPF1 promoter sequence
   Search Chromatin IP Primers for WIPF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WIPF1


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

Entrez Gene cytogenetic band: 2q31.1   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31.2

WIPF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WIPF1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M175424:  view genomic region     (about GC identifiers)

Start:
175,424,300 bp from pter      End:
175,547,644 bp from pter
Size:
123,345 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: WIPF1_HUMAN, O43516 (See protein sequence)
Recommended Name: WAS/WASL-interacting protein family member 1  
Size: 503 amino acids; 51258 Da
Subunit: Binds to WAS, profilin and actin. Binds to WASL (By similarity). Interacts with DBNL
Miscellaneous: Recruited to PIP5K-induced vesicle surfaces in the absence of functional WASL (By similarity)
Sequence caution: Sequence=AAC03767.1; Type=Frameshift; Positions=302, 310; Sequence=CAA60014.1; Type=Frameshift;
Positions=302, 310;
1 PDB 3D structure from and Proteopedia for WIPF1:
2A41 (3D)    
Secondary accessions: B8ZZM1 D3DPE4 Q15220 Q53TA9 Q6MZU9 Q9BU37 Q9UNP1
Alternative splicing: 4 isoforms:  O43516-1   O43516-2   O43516-3   O43516-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for WIPF1: NX_O43516

Explore proteomics data for WIPF1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See WIPF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001070737.1  NP_003378.3  

    ENSEMBL proteins: 
     ENSP00000376330   ENSP00000272746   ENSP00000352802   ENSP00000376329   ENSP00000386431  
     ENSP00000387150   ENSP00000391785   ENSP00000386757   ENSP00000388454  
    Reactome Protein details: O43516

    WIPF1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR028295 WIP
     IPR003124 WH2_dom

    Graphical View of Domain Structure for InterPro Entry O43516

    ProtoNet protein and cluster: O43516

    1 Blocks protein domain: IPB003124 Actin-binding WH2

    UniProtKB/Swiss-Prot: WIPF1_HUMAN, O43516
    Domain: Binds to WAS within the N-terminal region 170, at a site distinct from the CDC42-binding site
    Similarity: Belongs to the verprolin family
    Similarity: Contains 1 WH2 domain


    WIPF1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: WIPF1_HUMAN, O43516
    Function: Plays a role in the reorganization of the actin cytoskeleton. Contributes with NCK1 and GRB2 in the
    recruitment and activation of WASL. May participate in regulating the subcellular localization of WASL, resulting
    in the disassembly of stress fibers in favor of filopodia formation. Plays a role in the formation of cell
    ruffles (By similarity). Plays an important role in the intracellular motility of vaccinia virus by functioning
    as an adapter for recruiting WASL to vaccinia virus

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI10202051
    GO:0005522profilin binding TAS9405671
         
    WIPF1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for WIPF1:
     Decreased viability of wild-ty 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Wipf1):
     hematopoietic system  immune system 

    WIPF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Wipf1tm1Geha for WIPF1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for WIPF1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for WIPF1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for WIPF1

    miRNA
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    miRTarBase miRNAs that target WIPF1:
    hsa-mir-16-5p (MIRT004366), hsa-mir-15a-5p (MIRT003872), hsa-mir-124-3p (MIRT022917)

    Block miRNA regulation of human, mouse, rat WIPF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate WIPF1 (see all 68):
    hsa-miR-548j hsa-miR-607 hsa-miR-200a hsa-miR-632 hsa-miR-30d hsa-miR-30a hsa-miR-149 hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidWIPF1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat WIPF1

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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WIPF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    WIPF1_HUMAN, O43516: Cytoplasmic vesicle (By similarity). Cytoplasm, cytoskeleton (By similarity). Cell
    projection, ruffle. Note=Vesicle surfaces and along actin tails. Colocalizes with actin stress fibers. When
    coexpressed with WASL, no longer associated with actin filaments but accumulated in perinuclear and cortical
    areas like WASL (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    nucleus3

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle IEA--
    GO:0005829cytosol TAS--
    GO:0005884actin filament IEA--
    GO:0015629actin cytoskeleton TAS9405671
    GO:0016023cytoplasmic membrane-bounded vesicle IEA--

    WIPF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for WIPF1 About    
    See pathways by source

    SuperPathContained pathways About
    1Fcgamma receptor (FCGR) dependent phagocytosis
    Regulation of actin dynamics for phagocytic cup formation0.77
    Fcgamma receptor (FCGR) dependent phagocytosis0.77
    2Immune response Role of DAP12 receptors in NK cells
    Immune response Role of DAP12 receptors in NK cells0.33
    Immune response CD16 signaling in NK cells0.33
    3Immune response Fc epsilon RI pathway
    Fc-epsilon receptor I signaling in mast cells0.34
    4EphB-EphrinB Signaling
    Cytoskeleton remodeling Reverse signaling by ephrin B0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for WIPF1
        CDC42 Pathway
    Rho Family GTPases
    Actin Nucleation by ARP-WASP Complex

    3 GeneGo (Thomson Reuters) Pathways for WIPF1
        Cytoskeleton remodeling Reverse signaling by ephrin B
    Immune response CD16 signaling in NK cells
    Immune response Role of DAP12 receptors in NK cells

    1 BioSystems Pathway for WIPF1
        Fc-epsilon receptor I signaling in mast cells

    1 Reactome Pathway for WIPF1
        Regulation of actin dynamics for phagocytic cup formation



    WIPF1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including WIPF1: 
              Cell Motility in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for WIPF1

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

    Selected Interacting proteins for WIPF1 (O435161, 2, 3 ENSP000003528024) via UniProtKB, MINT, STRING, and/or I2D (see all 153)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WASP427681, 3, ENSP000003658914EBI-346356,EBI-346375 I2D: score=5 STRING: ENSP00000365891
    HCKP086311, 3, ENSP000003650124EBI-346356,EBI-346340 I2D: score=4 STRING: ENSP00000365012
    GRB2P629931, 3, ENSP000003390074EBI-346356,EBI-401755 I2D: score=3 STRING: ENSP00000339007
    WASLO004011, 2, 3, ENSP000002230234EBI-346356,EBI-957615 MINT-2748661 I2D: score=4 STRING: ENSP00000223023
    NCK1P163331, 3, ENSP000002889864EBI-346356,EBI-389883 I2D: score=4 STRING: ENSP00000288986
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006461protein complex assembly TAS9405671
    GO:0008154actin polymerization or depolymerization TAS9405671
    GO:0030048actin filament-based movement IEA--
    GO:0038096Fc-gamma receptor signaling pathway involved in phagocytosis TAS--
    GO:0045087innate immune response TAS--

    WIPF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for WIPF1

    1 Novoseek inferred chemical compound relationship for WIPF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proline 28.6 3 17207458 (1), 17711847 (1)



    WIPF1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for WIPF1 gene (2 alternative transcripts): 
    NM_001077269.1  NM_003387.4  

    Unigene Cluster for WIPF1:

    WAS/WASL interacting protein family, member 1
    Hs.128067  [show with all ESTs]
    Unigene Representative Sequence: NM_001077269
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000392547(uc002uiz.3 uc002uja.3) ENST00000272746(uc010fqt.1)
    ENST00000359761 ENST00000392546 ENST00000409891(uc002ujb.2) ENST00000467149
    ENST00000409415(uc010zep.1 uc002ujc.1) ENST00000455428 ENST00000410117
    ENST00000436221 ENST00000480400 ENST00000470752 ENST00000474332 ENST00000488830
    ENST00000490887 ENST00000469002 ENST00000487291
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate WIPF1 (see all 68):
    hsa-miR-548j hsa-miR-607 hsa-miR-200a hsa-miR-632 hsa-miR-30d hsa-miR-30a hsa-miR-149 hsa-miR-29a*
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      QuantiTect SYBR Green Assays in human, mouse, rat WIPF1
      QuantiFast Probe-based Assays in human, mouse, rat WIPF1

    Additional mRNA sequence: 

    AF031588.1 AF106062.1 AK097901.1 AK301271.1 AK304194.1 AL832275.1 BC002914.2 BC045584.1 
    BC110288.1 BX640870.1 X86019.1 

    23 DOTS entries:

    DT.101954652  DT.91828690  DT.442605  DT.114796  DT.100732838  DT.91921572  DT.100807526  DT.95373991 
    DT.209121  DT.120933493  DT.100695642  DT.120933337  DT.91815916  DT.100716758  DT.100753872  DT.120933346 
    DT.120933439  DT.120933511  DT.120933518  DT.121639012  DT.95107131  DT.100644739  DT.120933489 

    Selected AceView cDNA sequences (see all 321):

    AA599214 AI569415 AW086445 AA419190 CR618785 CR621647 AI005043 BU177646 
    AA455802 AL599603 AW136073 AA767669 AL706234 CF528452 AA279159 AA810975 
    AA926898 BU153081 AA394043 AW574751 AA459777 H89086 AI889670 AA228140 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    WIPF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACTATGTAA
    WIPF1 Expression
    About this image


    WIPF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 20 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
     
     Somite (Muscoskeletal System)    fully expand to see all 16 entries
             Mononuclear Myocytes Cervical Primary Hypaxial Myotome
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hindlimb Dorsal Muscle
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             T Helper Cells Thymus
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             T Helper Cells Thymus
    WIPF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WIPF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.128067

    UniProtKB/Swiss-Prot: WIPF1_HUMAN, O43516
    Tissue specificity: Highly expressed in peripheral blood mononuclear cells, spleen, placenta, small intestine,
    colon and thymus. Lower expression in ovary, heart, brain, lung, liver, skeletal muscle, kidney, pancreas,
    prostate and testis

        Pathway & Disease-focused RT2 Profiler PCR Array including WIPF1: 
              Cell Motility in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WIPF1

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for WIPF1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wipf11 , 5 WAS/WASL interacting protein family, member 11, 5 84.36(n)1
    89.43(a)1
      2 (43.68 cM)5
    2152801  NM_153138.31  NP_694778.11 
     734296105 
    chicken
    (Gallus gallus)
    Aves WIPF11 WAS/WASL interacting protein family, member 1 67.34(n)
    71.14(a)
      424143  NM_001012917.1  NP_001012935.1 
    lizard
    (Anolis carolinensis)
    Reptilia WIPF16
    WAS/WASL interacting protein family, member 1
    67(a)
    1 ↔ 1
    GL343377.1(840762-871410)
    zebrafish
    (Danio rerio)
    Actinopterygii wipf16
    WIPF1 (1 of 2)6
    WAS/WASL interacting protein family, member 1
    56(a)
    42(a)
    1 ↔ many
    1 ↔ many
    6(10692093-10720493) ENSDARG00000071084
    9(2518413-2537534) ENSDARG00000038458


    ENSEMBL Gene Tree for WIPF1 (if available)
    TreeFam Gene Tree for WIPF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for WIPF1 gene
    WIPF22  
    2 SIMAP similar genes for WIPF1 using alignment to 6 protein entries:     WIPF1_HUMAN (see all proteins):
    WASPIP    WIPF2

    WIPF1 for paralogs           About GeneDecksing



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for WIPF1 (see all 2169)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1453927751,2
    C--167311549(+) TTTTT-/TGAGAT 2 -- int10--------
    rs714071311,2
    C--167337327(+) CACAC-/A/AC/ACAC
    AC
    /ACACACAC
    CACCC
    4 -- int1 cds11NA 2
    rs764340261,2
    --167346562(+) ATGTTC/TCTTTT 2 -- int11Minor allele frequency- T:0.50NA 2
    rs75802801,2
    C,A--167381189(+) TTTTTG/TTTTTT 2 -- int1 us2k1 trp33Minor allele frequency- T:0.17NA 6
    rs105593541,2
    C--167403488(+) aaaaaAAAAAA/-
            
    aaaaa
    2 -- int1 cds11Minor allele frequency- -:0.50NA 2
    rs1123461661,2
    F--174818554(+) CTCACA/CTTATA 2 -- ds50011Minor allele frequency- C:0.00CSA 1
    rs1170174811,2
    F--174818749(+) TGTAAT/CTTCAT 2 -- ds50011Minor allele frequency- C:0.01EA 120
    rs1871604911,2
    --174818774(+) GCCATC/TCATCT 2 -- ds50010--------
    rs67489591,2
    C,F,A,H--174818840(+) ATTCTT/CGGAAA 2 -- ds500124Minor allele frequency- C:0.45NA NS EA WA 2456
    rs1915091821,2
    --174818916(+) TTTGTC/GTTTCT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for WIPF1 (175424300 - 175547644 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for WIPF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669521CNV Deletion23128226
    esv2721157CNV Deletion23290073
    esv2676722CNV Deletion23128226
    esv2721156CNV Deletion23290073
    nsv3041CNV Insertion18451855
    nsv3042CNV Insertion18451855
    esv27119CNV Loss19812545
    nsv215436CNV Loss16902084

    Human Gene Mutation Database (HGMD): WIPF1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing WIPF1
    DNA2.0 Custom Variant and Variant Library Synthesis for WIPF1

    (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.)
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    OMIM gene information: 602357   
    OMIM disorders: 614493  
    UniProtKB/Swiss-Prot: WIPF1_HUMAN, O43516
  • Wiskott-Aldrich syndrome 2 (WAS2) [MIM:614493]: An immunodeficiency disorder characterized by eczema,
    thrombocytopenia, recurrent infections, defective T-cell proliferation, and impaired natural killer cell
    function. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 11 diseases for WIPF1:    
    About MalaCards
    wiskott-aldrich syndrome 2    wiskott-aldrich syndrome    x-linked thrombocytopenia    thrombocytopenia
    vaccinia    cervicitis    tonsillitis    multiple myeloma
    myeloma    prostatitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for WIPF1:
    Wiskott-Aldrich syndrome

    WIPF1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for WIPF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    wiskott-aldrich syndrome 95.6 39 9694849 (2), 10706671 (2), 17205972 (2), 10358064 (2) (see all 23)
    immunodeficiency 31.8 1 10358064 (1)

    Genetic Association Database (GAD): WIPF1

    Export disorders for WIPF1 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)
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    PubMed articles for WIPF1 gene, integrated from 10 sources (see all 82):
    (articles sorted by number of sources associating them with WIPF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. WIP, a protein associated with Wiskott-Aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells. (PubMed id 9405671)1, 2, 3, 9 Ramesh N.... Geha R.S. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    2. Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein. (PubMed id 10202051)1, 2, 9 Stewart D.M.... Nelson D.L. (J. Immunol. 1999)
    3. A novel primary human immunodeficiency due to deficiency in the WASP- interacting protein WIP. (PubMed id 22231303)1, 2 Lanzi G.... Giliani S. (J. Exp. Med. 2012)
    4. 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. (Genome Res. 2004)
    5. A complex of N-WASP and WIP integrates signalling cascades that lead to actin polymerization. (PubMed id 10878810)1, 2 Moreau V.... Way M. (Nat. Cell Biol. 2000)
    6. The human WASP-interacting protein, WIP, activates the cell polarity pathway in yeast. (PubMed id 10358064)1, 9 Vaduva G....Ramesh N. (J. Biol. Chem. 1999)
    7. The rat homologue of Wiskott-Aldrich syndrome protein (WASP)-interacting protein (WIP) associates with actin filaments, recruits N-WASP from the nucleus, and mediates mobilization of actin from stress fibers in favor of filopodia formation. (PubMed id 11687573)1, 9 Vetterkind S....Preuss U. (J. Biol. Chem. 2002)
    8. WIP is essential for lytic granule polarization and NK cell cytotoxicity. (PubMed id 18258743)1, 9 Krzewski K....Strominger J.L. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    9. Structure-function analysis of the WIP role in T cell receptor-stimulated NFAT activation: evidence that WIP-WASP dissociation is not required and that the WIP NH2 terminus is inhibitory. (PubMed id 17711847)1, 9 Dong X....Shaw S. (J. Biol. Chem. 2007)
    10. WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP). (PubMed id 17213309)1, 9 de la Fuente M.A....Ramesh N. (Proc. Natl. Acad. Sci. U.S.A. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 7456 HGNC: 12736 AceView: WASPIP Ensembl:ENSG00000115935 euGenes: HUgn7456
    ECgene: WIPF1 H-InvDB: WIPF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for WIPF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for WIPF1 gene:
    Search GeneIP for patents involving WIPF1

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



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