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
ID:WIPF1_HUMAN 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;
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.
ModBase Predicted Comparative 3D Structure on O43516
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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.