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 en... See more...

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 3 4
  • WASP-Interacting Protein 3 4
  • Protein PRPL-2 3 4
  • WASPIP 3 4
  • WIP 3 4
  • Wiskott-Aldrich Syndrome Protein-Interacting Protein 4
  • WAS/WASL Interacting Protein Family, Member 1 2
  • 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 Actin Nucleation by ARP-WASP Complex and ERK Signaling. Gene Ontology (GO) annotations related to this gene include actin binding and profilin binding. An important paralog of this gene is WIPF2.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for WIPF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for WIPF1 Gene

Genomics for WIPF1 Gene

GeneHancer (GH) Regulatory Elements for WIPF1 Gene

Promoters and enhancers for WIPF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WIPF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WIPF1 gene promoter:
  • AREB6
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C

Genomic Locations for WIPF1 Gene

Genomic Locations for WIPF1 Gene
chr2:174,559,572-174,682,916
(GRCh38/hg38)
Size:
123,345 bases
Orientation:
Minus strand
chr2:175,424,300-175,547,644
(GRCh37/hg19)
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. Interacts with FNBP1L (via the SH3 domain) (PubMed:19798448).
    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

Post-translational modifications for WIPF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for WIPF1

No data available for DME Specific Peptides for WIPF1 Gene

Domains & Families for WIPF1 Gene

Gene Families for WIPF1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for WIPF1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for WIPF1 Gene

GenScript: Design optimal peptide antigens:
  • Wiskott-Aldrich syndrome protein interacting protein, isoform CRA_a (D3DPE6_HUMAN)
  • WIPF1 protein (Q2YDC4_HUMAN)
  • Wiskott-Aldrich syndrome protein-interacting protein (WIPF1_HUMAN)

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.
Family:
  • Belongs to the verprolin family.
genes like me logo Genes that share domains with WIPF1: view

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.

Phenotypes From GWAS Catalog for WIPF1 Gene

Gene Ontology (GO) - Molecular Function for WIPF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA,TAS 9405671
GO:0005515 protein binding IPI 9405671
GO:0005522 profilin binding TAS 9405671
GO:0017124 SH3 domain binding IPI 19798448
GO:0051015 actin filament binding IBA 21873635
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

Clone Products

  • Addgene plasmids for WIPF1

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WIPF1 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
nucleus 3
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for WIPF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005884 actin filament IBA 21873635
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

Pathways by source for WIPF1 Gene

SIGNOR curated interactions for WIPF1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for WIPF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000147 actin cortical patch assembly IBA 21873635
GO:0006897 endocytosis IBA 21873635
GO:0008154 actin polymerization or depolymerization TAS 9405671
GO:0030048 actin filament-based movement IBA 21873635
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS --
genes like me logo Genes that share ontologies with WIPF1: view

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

mRNA/cDNA for WIPF1 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for WIPF1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for WIPF1 Gene



Protein tissue co-expression partners for WIPF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of WIPF1 Gene:

WIPF1

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.

Evidence on tissue expression from TISSUES for WIPF1 Gene

  • Blood(4.4)
  • Skin(4.3)
  • Liver(4.2)
  • Lymph node(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WIPF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • face
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • esophagus
  • lung
  • trachea
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • anus
  • ureter
  • urinary bladder
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with WIPF1: view

Orthologs for WIPF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for WIPF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia WIPF1 33 32
  • 99.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia WIPF1 33 32
  • 85.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia WIPF1 33 32
  • 84.37 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Wipf1 17 33 32
  • 84.36 (n)
rat
(Rattus norvegicus)
Mammalia Wipf1 32
  • 82.52 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 78 (a)
OneToMany
-- 33
  • 49 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia WIPF1 33
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves WIPF1 33 32
  • 67.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia WIPF1 33
  • 67 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii wipf1 33
  • 56 (a)
OneToMany
WIPF1 (1 of 2) 33
  • 42 (a)
OneToMany
Species where no ortholog for WIPF1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for WIPF1: view image

Paralogs for WIPF1 Gene

Paralogs for WIPF1 Gene

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

  • WIPF1_HUMAN
  • B8ZZ90_HUMAN
  • C9JB04_HUMAN
  • C9JTB9_HUMAN
  • E9PB87_HUMAN
  • Q2YDC4_HUMAN
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 Variation AA Info Type
rs1040586347 likely-benign, Wiskott-Aldrich syndrome 2 174,571,869(-) A/C/T coding_sequence_variant, synonymous_variant
rs111761533 benign, Wiskott-Aldrich syndrome 2 174,585,532(-) C/T coding_sequence_variant, synonymous_variant
rs116757787 likely-benign, benign, not specified, Wiskott-Aldrich syndrome 2 174,567,080(-) G/A coding_sequence_variant, synonymous_variant
rs147847123 uncertain-significance, Wiskott-Aldrich syndrome 2 174,571,721(-) T/C coding_sequence_variant, missense_variant
rs149092210 benign, Wiskott-Aldrich syndrome 2 174,567,113(-) C/A/T coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
esv2669521 CNV deletion 23128226
esv2676722 CNV deletion 23128226
esv27119 CNV loss 19812545
esv2721156 CNV deletion 23290073
esv2721157 CNV deletion 23290073
esv3560569 CNV deletion 23714750
esv3575313 CNV gain 25503493
esv3593411 CNV loss 21293372
nsv1138867 CNV deletion 24896259
nsv1153926 CNV deletion 26484159
nsv215436 CNV deletion 16902084
nsv3041 CNV insertion 18451855
nsv3042 CNV insertion 18451855
nsv954729 CNV deletion 24416366

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)

Additional Variant Information for WIPF1 Gene

Human Gene Mutation Database (HGMD)
WIPF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
WIPF1

SNP Genotyping and Copy Number Assay Products

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

Disorders for WIPF1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for WIPF1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
wiskott-aldrich syndrome 2
  • was2
wiskott-aldrich syndrome
  • was
chronic purulent otitis media
  • chronic suppurative otitis media
suppurative otitis media
  • otitis media with effusion - purulent
- 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.

Additional Disease Information for 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 RS (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 23 56
  2. Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein. (PMID: 10202051) Stewart DM … Nelson DL (Journal of immunology (Baltimore, Md. : 1950) 1999) 3 4 23 56
  3. A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. (PMID: 22231303) Lanzi G … Giliani S (The Journal of experimental medicine 2012) 3 4 56
  4. Actin-binding protein-1 interacts with WASp-interacting protein to regulate growth factor-induced dorsal ruffle formation. (PMID: 19910490) Cortesio CL … Huttenlocher A (Molecular biology of the cell 2010) 4 23 56
  5. Requirements for F-BAR proteins TOCA-1 and TOCA-2 in actin dynamics and membrane trafficking during Caenorhabditis elegans oocyte growth and embryonic epidermal morphogenesis. (PMID: 19798448) Giuliani C … Scita G (PLoS genetics 2009) 3 4 56

Products for WIPF1 Gene

Sources for WIPF1 Gene