The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface signals to the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms.[2]
Clinical significance
FNBP1Lpolymorphisms, specifically the SNP rs236330 has been associated with normally varying intelligence differences in adults[3] and in children.[4]
References
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Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
Ho HY, Rohatgi R, Lebensohn AM, et al. (2004). "Toca-1 mediates Cdc42-dependent actin nucleation by activating the N-WASP-WIP complex". Cell. 118 (2): 203–16. doi:10.1016/j.cell.2004.06.027. PMID15260990.
Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID16169070.
Itoh T, Erdmann KS, Roux A, et al. (2006). "Dynamin and the actin cytoskeleton cooperatively regulate plasma membrane invagination by BAR and F-BAR proteins". Dev. Cell. 9 (6): 791–804. doi:10.1016/j.devcel.2005.11.005. PMID16326391.
Aspenström P, Richnau N, Johansson AS (2006). "The diaphanous-related formin DAAM1 collaborates with the Rho GTPases RhoA and Cdc42, CIP4 and Src in regulating cell morphogenesis and actin dynamics". Exp. Cell Res. 312 (12): 2180–94. doi:10.1016/j.yexcr.2006.03.013. PMID16630611.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. doi:10.1038/nature04727. PMID16710414.
Kakimoto T, Katoh H, Negishi M (2006). "Regulation of neuronal morphology by Toca-1, an F-BAR/EFC protein that induces plasma membrane invagination". J. Biol. Chem. 281 (39): 29042–53. doi:10.1074/jbc.M604025200. PMID16885158.