Human Gene WIPF1 (ENST00000392547.6) Description and Page Index
  Description: Homo sapiens WAS/WASL interacting protein family member 1 (WIPF1), transcript variant 1, mRNA. (from RefSeq NM_003387)
RefSeq Summary (NM_003387): 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].
Gencode Transcript: ENST00000392547.6
Gencode Gene: ENSG00000115935.17
Transcript (Including UTRs)
   Position: hg38 chr2:174,559,572-174,634,579 Size: 75,008 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr2:174,562,547-174,585,573 Size: 23,027 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr2:174,559,572-174,634,579)mRNA (may differ from genome)Protein (503 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=WAS/WASL-interacting protein family member 1; AltName: Full=Protein PRPL-2; AltName: Full=Wiskott-Aldrich syndrome protein-interacting protein; Short=WASP-interacting protein;
FUNCTION: May have direct activity on the actin cytoskeleton. Induces actin polymerization and redistribution. 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 (By similarity). Plays an important role in the intracellular motility of vaccinia virus by functioning as an adapter for recruiting WASL to vaccinia virus.
SUBUNIT: Binds to WAS, profilin and actin. Binds to WASL (By similarity).
INTERACTION: Q60598:Cttn (xeno); NbExp=3; IntAct=EBI-346356, EBI-397955; P62993:GRB2; NbExp=3; IntAct=EBI-346356, EBI-401755; P08631:HCK; NbExp=3; IntAct=EBI-346356, EBI-346340; P16333:NCK1; NbExp=2; IntAct=EBI-346356, EBI-389883; P42768:WAS; NbExp=11; IntAct=EBI-346356, EBI-346375; O00401:WASL; NbExp=3; IntAct=EBI-346356, EBI-957615;
SUBCELLULAR LOCATION: Cytoplasmic vesicle (By similarity). Cytoplasm, cytoskeleton (By similarity). Note=Vesicle surfaces and along actin tails. Co-localized with actin stress fibers. When co- expressed with WASL, no longer associated with actin filaments but accumulated in perinuclear and cortical areas like WASL (By similarity).
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.
DOMAIN: Binds to WAS within the N-terminal region 170, at a site distinct from the CDC42-binding site.
DISEASE: Defects in WIPF1 are the cause of Wiskott-Aldrich syndrome type 2 (WAS2) [MIM:614493]. WAS2 is an immunodeficiency disorder characterized by eczema, thrombocytopenia, recurrent infections, defective T-cell proliferation, and impaired natural killer cell function.
MISCELLANEOUS: Recruited to PIP5K-induced vesicle surfaces in the absence of functional WASL (By similarity).
SIMILARITY: Belongs to the verprolin family.
SIMILARITY: Contains 1 WH2 domain.
SEQUENCE CAUTION: Sequence=AAC03767.1; Type=Frameshift; Positions=302, 310; Sequence=CAA60014.1; Type=Frameshift; Positions=302, 310;

-  MalaCards Disease Associations
  MalaCards Gene Search: WIPF1
Diseases sorted by gene-association score: wiskott-aldrich syndrome 2* (1069), wiskott-aldrich syndrome* (298), chronic purulent otitis media (9), suppurative otitis media (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.89 RPKM in Whole Blood
Total median expression: 397.43 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.60100-0.186 Picture PostScript Text
3' UTR -744.102975-0.250 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003124 - WH2_dom

Pfam Domains:
PF02205 - WH2 motif

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray

ModBase Predicted Comparative 3D Structure on O43516
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding
GO:0005522 profilin binding
GO:0017124 SH3 domain binding

Biological Process:
GO:0008154 actin polymerization or depolymerization
GO:0030048 actin filament-based movement
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0051707 response to other organism
GO:0065003 macromolecular complex assembly

Cellular Component:
GO:0001726 ruffle
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005884 actin filament
GO:0015629 actin cytoskeleton
GO:0031410 cytoplasmic vesicle
GO:0042995 cell projection

-  Descriptions from all associated GenBank mRNAs
  BX640870 - Homo sapiens mRNA; cDNA DKFZp686C0672 (from clone DKFZp686C0672); complete cds.
AK301271 - Homo sapiens cDNA FLJ56555 complete cds, highly similar to Wiskott-Aldrich syndrome protein-interacting protein.
BC002914 - Homo sapiens WAS/WASL interacting protein family, member 1, mRNA (cDNA clone MGC:10429 IMAGE:3954968), complete cds.
AF031588 - Homo sapiens WASP interacting protein (WIP) mRNA, partial cds.
HM005539 - Homo sapiens clone HTL-T-226 testicular tissue protein Li 226 mRNA, complete cds.
X86019 - H.sapiens mRNA for PRPL-2 protein.
BC110288 - Homo sapiens WAS/WASL interacting protein family, member 1, mRNA (cDNA clone MGC:111041 IMAGE:5184105), complete cds.
AK304194 - Homo sapiens cDNA FLJ61061 complete cds, highly similar to Wiskott-Aldrich syndrome protein-interactingprotein.
BC045584 - Homo sapiens Wiskott-Aldrich syndrome protein interacting protein, mRNA (cDNA clone IMAGE:5264268).
AK097901 - Homo sapiens cDNA FLJ40582 fis, clone THYMU2007886.
AL832275 - Homo sapiens mRNA; cDNA DKFZp667A0918 (from clone DKFZp667A0918).
EU832147 - Synthetic construct Homo sapiens clone HAIB:100067176; DKFZo008F0125 WAS/WASL interacting protein family, member 1 protein (WIPF1) gene, encodes complete protein.
EU832240 - Synthetic construct Homo sapiens clone HAIB:100067269; DKFZo004F0126 WAS/WASL interacting protein family, member 1 protein (WIPF1) gene, encodes complete protein.
AF106062 - Homo sapiens Wiskott-Aldrich syndrome protein interacting protein (WASPIP) mRNA, partial cds.
JD257394 - Sequence 238418 from Patent EP1572962.
JD371796 - Sequence 352820 from Patent EP1572962.
JD273419 - Sequence 254443 from Patent EP1572962.
JD201655 - Sequence 182679 from Patent EP1572962.
JD147311 - Sequence 128335 from Patent EP1572962.
JD281091 - Sequence 262115 from Patent EP1572962.
JD112643 - Sequence 93667 from Patent EP1572962.
JD483314 - Sequence 464338 from Patent EP1572962.
JD150479 - Sequence 131503 from Patent EP1572962.
JD528183 - Sequence 509207 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O43516 (Reactome details) participates in the following event(s):

R-HSA-2197691 Activation of WASP/N-WASP by WIP family and SH3 domain proteins
R-HSA-2197698 Phosphorylation of WASP/N-WASP
R-HSA-442592 WASPs or WAVEs activate the ARP2/3 complex
R-HSA-2197690 Detachment of WASP/WAVE
R-HSA-2029466 Attachment of preexisting mother filament and initiation of branching
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation
R-HSA-5663213 RHO GTPases Activate WASPs and WAVEs
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosis
R-HSA-195258 RHO GTPase Effectors
R-HSA-168249 Innate Immune System
R-HSA-194315 Signaling by Rho GTPases
R-HSA-168256 Immune System
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B8ZZM1, D3DPE4, NM_003387, O43516, Q15220, Q53TA9, Q6MZU9, Q9BU37, Q9UNP1, uc002uiz.1, uc002uiz.2, uc002uiz.3, uc002uiz.4, WASPIP, WIP, WIPF1_HUMAN
UCSC ID: uc002uiz.4
RefSeq Accession: NM_003387
Protein: O43516 (aka WIPF1_HUMAN)
CCDS: CCDS2260.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.