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Aliases for WIPF1 Gene

Aliases for WIPF1 Gene

  • WAS/WASL Interacting Protein Family Member 1 2 3 5
  • Wiskott-Aldrich Syndrome Protein Interacting Protein 2 3
  • WAS/WASL Interacting Protein Family, Member 1 2 3
  • WASP-Interacting Protein 3 4
  • Protein PRPL-2 3 4
  • WASPIP 3 4
  • WIP 3 4
  • Wiskott-Aldrich Syndrome Protein-Interacting Protein 4
  • Testicular Tissue Protein Li 226 3
  • PRPL-2 3
  • WAS2 3

External Ids for WIPF1 Gene

Previous HGNC Symbols for WIPF1 Gene

  • WASPIP

Previous GeneCards Identifiers for WIPF1 Gene

  • GC02M175133
  • GC02M175424
  • GC02M167305

Summaries for WIPF1 Gene

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. Among its related pathways are Signaling by GPCR and Signaling by Rho GTPases. GO annotations related to this gene include actin binding and profilin binding. An important paralog of this gene is WIPF2.

UniProtKB/Swiss-Prot for WIPF1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WIPF1 Gene

Genomics for WIPF1 Gene

Regulatory Elements for WIPF1 Gene

Promoters for WIPF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around WIPF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for WIPF1 Gene

Chromosome:
2
Start:
174,559,572 bp from pter
End:
174,682,916 bp from pter
Size:
123,345 bases
Orientation:
Minus strand

Genomic View for WIPF1 Gene

Genes around WIPF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WIPF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WIPF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WIPF1 Gene

Proteins for WIPF1 Gene

  • Protein details for WIPF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43516-WIPF1_HUMAN
    Recommended name:
    WAS/WASL-interacting protein family member 1
    Protein Accession:
    O43516
    Secondary Accessions:
    • B8ZZM1
    • D3DPE4
    • Q15220
    • Q53TA9
    • Q6MZU9
    • Q9BU37
    • Q9UNP1

    Protein attributes for WIPF1 Gene

    Size:
    503 amino acids
    Molecular mass:
    51258 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAC03767.1; Type=Frameshift; Positions=302, 310; Evidence={ECO:0000305}; Sequence=CAA60014.1; Type=Frameshift; Positions=302, 310; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for WIPF1 Gene

    Alternative splice isoforms for WIPF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for WIPF1 Gene

Proteomics data for WIPF1 Gene at MOPED

Post-translational modifications for WIPF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for WIPF1 Gene

Domains & Families for WIPF1 Gene

Protein Domains for WIPF1 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O43516

UniProtKB/Swiss-Prot:

WIPF1_HUMAN :
  • Binds to WAS within the N-terminal region 170, at a site distinct from the CDC42-binding site.
  • Belongs to the verprolin family.
Domain:
  • Binds to WAS within the N-terminal region 170, at a site distinct from the CDC42-binding site.
  • Contains 1 WH2 domain.
Family:
  • Belongs to the verprolin family.
genes like me logo Genes that share domains with WIPF1: view

No data available for Gene Families for WIPF1 Gene

Function for WIPF1 Gene

Molecular function for WIPF1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for WIPF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA,TAS 9405671
GO:0051015 actin filament binding IBA --
genes like me logo Genes that share ontologies with WIPF1: view
genes like me logo Genes that share phenotypes with WIPF1: view

Human Phenotype Ontology for WIPF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WIPF1 Gene

MGI Knock Outs for WIPF1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for WIPF1 Gene

Localization for WIPF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WIPF1 Gene

Cytoplasmic vesicle. Cytoplasm, cytoskeleton. 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). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for WIPF1 Gene COMPARTMENTS Subcellular localization image for WIPF1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
plasma membrane 1

Gene Ontology (GO) - Cellular Components for WIPF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0016023 cytoplasmic, membrane-bounded vesicle IEA --
genes like me logo Genes that share ontologies with WIPF1: view

Pathways & Interactions for WIPF1 Gene

genes like me logo Genes that share pathways with WIPF1: view

Gene Ontology (GO) - Biological Process for WIPF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000147 NOT actin cortical patch assembly IBA --
GO:0008154 actin polymerization or depolymerization IEA --
GO:0008360 regulation of cell shape IBA --
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS --
GO:0051127 positive regulation of actin nucleation IBA --
genes like me logo Genes that share ontologies with WIPF1: view

No data available for SIGNOR curated interactions for WIPF1 Gene

Drugs & Compounds for WIPF1 Gene

(1) Drugs for WIPF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with WIPF1: view

Transcripts for WIPF1 Gene

Unigene Clusters for WIPF1 Gene

WAS/WASL interacting protein family, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for WIPF1 Gene

No ASD Table

Relevant External Links for WIPF1 Gene

GeneLoc Exon Structure for
WIPF1
ECgene alternative splicing isoforms for
WIPF1

Expression for WIPF1 Gene

mRNA expression in normal human tissues for WIPF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for WIPF1 Gene

This gene is overexpressed in Whole Blood (x11.0).

Protein differential expression in normal tissues from HIPED for WIPF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.5), Monocytes (8.9), CD8 Tcells (8.6), Lymph node (8.6), NK cells (6.2), and Cervix (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for WIPF1 Gene



SOURCE GeneReport for Unigene cluster for WIPF1 Gene Hs.128067

mRNA Expression by UniProt/SwissProt for WIPF1 Gene

O43516-WIPF1_HUMAN
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.
genes like me logo Genes that share expression patterns with WIPF1: view

Protein tissue co-expression partners for WIPF1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for WIPF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for WIPF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia WIPF1 35
  • 84.37 (n)
  • 86.53 (a)
WIPF1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia WIPF1 35
  • 85.42 (n)
  • 87 (a)
WIPF1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Wipf1 35
  • 84.36 (n)
  • 89.43 (a)
Wipf1 16
Wipf1 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia WIPF1 35
  • 99.4 (n)
  • 99.4 (a)
WIPF1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Wipf1 35
  • 82.52 (n)
  • 87.34 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 49 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia WIPF1 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves WIPF1 35
  • 67.34 (n)
  • 71.14 (a)
WIPF1 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WIPF1 36
  • 67 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii wipf1 36
  • 56 (a)
OneToMany
WIPF1 (1 of 2) 36
  • 42 (a)
OneToMany
Species with no ortholog for WIPF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for WIPF1 Gene

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

Paralogs for WIPF1 Gene

Paralogs for WIPF1 Gene

(2) SIMAP similar genes for WIPF1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with WIPF1: view

Variants for WIPF1 Gene

Sequence variations from dbSNP and Humsavar for WIPF1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_010295 -
rs4972450 - 174,572,212(+) TGTGC(A/G)GACTT reference, missense
rs7739 -- 174,559,701(-) TCATA(C/T)CATGC utr-variant-3-prime
rs11482 -- 174,559,727(-) ACCGT(A/C)GAGGA utr-variant-3-prime
rs15327 -- 174,560,914(+) AGTAA(C/T)ACATG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for WIPF1 Gene

Variant ID Type Subtype PubMed ID
nsv3041 CNV Insertion 18451855
nsv3042 CNV Insertion 18451855
esv2721156 CNV Deletion 23290073
esv2721157 CNV Deletion 23290073
esv2669521 CNV Deletion 23128226
nsv215436 CNV Loss 16902084
esv2676722 CNV Deletion 23128226
esv27119 CNV Loss 19812545

Variation tolerance for WIPF1 Gene

Residual Variation Intolerance Score: 27.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.97; 20.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for WIPF1 Gene

HapMap Linkage Disequilibrium report
WIPF1
Human Gene Mutation Database (HGMD)
WIPF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for WIPF1 Gene

Disorders for WIPF1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for WIPF1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wiskott-aldrich syndrome 2
  • wipf1 deficiency, was2
wiskott-aldrich syndrome
  • wiskott syndrome
chronic purulent otitis media
  • chronic suppurative otitis media
suppurative otitis media
  • otitis media with effusion - purulent
x-linked disease
- elite association - COSMIC cancer census association via MalaCards
Search WIPF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

WIPF1_HUMAN
  • 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. {ECO:0000269 PubMed:22231303}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for WIPF1

Genetic Association Database (GAD)
WIPF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
WIPF1
genes like me logo Genes that share disorders with WIPF1: view

No data available for Genatlas for WIPF1 Gene

Publications for WIPF1 Gene

  1. WIP, a protein associated with Wiskott-Aldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells. (PMID: 9405671) Ramesh N. … Geha R.S. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 23 67
  2. FBP17 Mediates a Common Molecular Step in the Formation of Podosomes and Phagocytic Cups in Macrophages. (PMID: 19155218) Tsuboi S. … Ochs H.D. (J. Biol. Chem. 2009) 3 23
  3. Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae. (PMID: 19817875) Rajmohan R. … Thanabalu T. (FEMS Yeast Res. 2009) 3 23
  4. WIP is essential for lytic granule polarization and NK cell cytotoxicity. (PMID: 18258743) Krzewski K. … Strominger J.L. (Proc. Natl. Acad. Sci. U.S.A. 2008) 3 23
  5. WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP). (PMID: 17213309) de la Fuente M.A. … Ramesh N. (Proc. Natl. Acad. Sci. U.S.A. 2007) 3 23

Products for WIPF1 Gene

Sources for WIPF1 Gene

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