WASF1

WAS protein family, member 1
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 3P8C​, 4N78​
Identifiers
Symbols	WASF1 ; SCAR1; WAVE; WAVE1
External IDs	OMIM: 605035 MGI: 1890563 HomoloGene: 2920 GeneCards: WASF1 Gene
Gene ontology Molecular function • actin binding • protein binding • protein complex binding • Rac GTPase binding Cellular component • mitochondrial outer membrane • cytoskeleton • actin cytoskeleton • lamellipodium • cell junction • SCAR complex • synapse Biological process • protein complex assembly • movement of cell or subcellular component • Rac protein signal transduction • actin filament polymerization • lamellipodium morphogenesis • positive regulation of Arp2/3 complex-mediated actin nucleation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8936	83767
Ensembl	ENSG00000112290	ENSMUSG00000019831
UniProt	Q92558	Q8R5H6
RefSeq (mRNA)	NM_001024934	NM_031877
RefSeq (protein)	NP_001020105	NP_114083
Location (UCSC)	Chr 6: 110.1 – 110.18 Mb	Chr 10: 40.88 – 40.94 Mb
PubMed search

Wiskott-Aldrich syndrome protein family member 1 is a protein that in humans is encoded by the WASF1 gene.^[1][2][3]

Function

The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP) family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro.

Clinical significance

Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton.^[3]

Interactions

WASF1 has been shown to interact with BAIAP2^[4] and Profilin 1.^[1]

References

1. Miki H, Suetsugu S, Takenawa T (February 1999). "WAVE, a novel WASP-family protein involved in actin reorganization induced by Rac". EMBO J 17 (23): 6932–41. doi:10.1093/emboj/17.23.6932. PMC 1171041. PMID 9843499.
2. Machesky LM, Insall RH (March 1999). "Scar1 and the related Wiskott-Aldrich syndrome protein, WASP, regulate the actin cytoskeleton through the Arp2/3 complex". Curr Biol 8 (25): 1347–56. doi:10.1016/S0960-9822(98)00015-3. PMID 9889097.
3. "Entrez Gene: WASF1 WAS protein family, member 1".
4. Miki H, Yamaguchi H, Suetsugu S, Takenawa T (December 2000). "IRSp53 is an essential intermediate between Rac and WAVE in the regulation of membrane ruffling". Nature 408 (6813): 732–5. doi:10.1038/35047107. PMID 11130076.

Further reading

• Sloane JA, Vartanian TK (2007). "WAVE1 and regulation of actin nucleation in myelination.". The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry 13 (5): 486–91. doi:10.1177/1073858407299423. PMID 17901257.
• Whitebread S, Mele M, Kamber B, de Gasparo M (1989). "Preliminary biochemical characterization of two angiotensin II receptor subtypes.". Biochem. Biophys. Res. Commun. 163 (1): 284–91. doi:10.1016/0006-291X(89)92133-5. PMID 2775266.
• Kitamura T, Kitamura Y, Yonezawa K, et al. (1996). "Molecular cloning of p125Nap1, a protein that associates with an SH3 domain of Nck.". Biochem. Biophys. Res. Commun. 219 (2): 509–14. doi:10.1006/bbrc.1996.0264. PMID 8605018.
• Nagase T, Seki N, Ishikawa K, et al. (1997). "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain.". DNA Res. 3 (5): 321–9, 341–54. doi:10.1093/dnares/3.5.321. PMID 9039502.
• She HY, Rockow S, Tang J, et al. (1997). "Wiskott-Aldrich syndrome protein is associated with the adapter protein Grb2 and the epidermal growth factor receptor in living cells.". Mol. Biol. Cell 8 (9): 1709–21. doi:10.1091/mbc.8.9.1709. PMC 305731. PMID 9307968.
• Witke W, Podtelejnikov AV, Di Nardo A, et al. (1998). "In mouse brain profilin I and profilin II associate with regulators of the endocytic pathway and actin assembly.". EMBO J. 17 (4): 967–76. doi:10.1093/emboj/17.4.967. PMC 1170446. PMID 9463375.
• Bear JE, Rawls JF, Saxe CL (1998). "SCAR, a WASP-related protein, isolated as a suppressor of receptor defects in late Dictyostelium development.". J. Cell Biol. 142 (5): 1325–35. doi:10.1083/jcb.142.5.1325. PMC 2149354. PMID 9732292.
• Wu Y, Dowbenko D, Lasky LA (1998). "PSTPIP 2, a second tyrosine phosphorylated, cytoskeletal-associated protein that binds a PEST-type protein-tyrosine phosphatase.". J. Biol. Chem. 273 (46): 30487–96. doi:10.1074/jbc.273.46.30487. PMID 9804817.
• Suetsugu S, Miki H, Takenawa T (1999). "Identification of two human WAVE/SCAR homologues as general actin regulatory molecules which associate with the Arp2/3 complex.". Biochem. Biophys. Res. Commun. 260 (1): 296–302. doi:10.1006/bbrc.1999.0894. PMID 10381382.
• Banin S, Gout I, Brickell P (1999). "Interaction between Wiskott-Aldrich Syndrome protein (WASP) and the Fyn protein-tyrosine kinase.". Mol. Biol. Rep. 26 (3): 173–7. doi:10.1023/A:1006954206151. PMID 10532312.
• Higgs HN, Blanchoin L, Pollard TD (1999). "Influence of the C terminus of Wiskott-Aldrich syndrome protein (WASp) and the Arp2/3 complex on actin polymerization.". Biochemistry 38 (46): 15212–22. doi:10.1021/bi991843. PMID 10563804.
• Westphal RS, Soderling SH, Alto NM, et al. (2000). "Scar/WAVE-1, a Wiskott-Aldrich syndrome protein, assembles an actin-associated multi-kinase scaffold.". EMBO J. 19 (17): 4589–600. doi:10.1093/emboj/19.17.4589. PMC 302050. PMID 10970852.
• Prehoda KE, Scott JA, Mullins RD, Lim WA (2000). "Integration of multiple signals through cooperative regulation of the N-WASP-Arp2/3 complex.". Science 290 (5492): 801–6. doi:10.1126/science.290.5492.801. PMID 11052943.
• Miki H, Yamaguchi H, Suetsugu S, Takenawa T (2001). "IRSp53 is an essential intermediate between Rac and WAVE in the regulation of membrane ruffling.". Nature 408 (6813): 732–5. doi:10.1038/35047107. PMID 11130076.
• Marchand JB, Kaiser DA, Pollard TD, Higgs HN (2001). "Interaction of WASP/Scar proteins with actin and vertebrate Arp2/3 complex.". Nat. Cell Biol. 3 (1): 76–82. doi:10.1038/35050590. PMID 11146629.
• Eden S, Rohatgi R, Podtelejnikov AV, et al. (2002). "Mechanism of regulation of WAVE1-induced actin nucleation by Rac1 and Nck.". Nature 418 (6899): 790–3. doi:10.1038/nature00859. PMID 12181570.
• Yarar D, D'Alessio JA, Jeng RL, Welch MD (2003). "Motility determinants in WASP family proteins.". Mol. Biol. Cell 13 (11): 4045–59. doi:10.1091/mbc.E02-05-0294. PMC 133613. PMID 12429845.
• Soderling SH, Binns KL, Wayman GA, et al. (2003). "The WRP component of the WAVE-1 complex attenuates Rac-mediated signalling.". Nat. Cell Biol. 4 (12): 970–5. doi:10.1038/ncb886. PMID 12447388.