FNBP1L

Formin-binding protein 1-like is a protein that in humans is encoded by the FNBP1L gene.[3][4]

FNBP1L
Identifiers
Aliases	FNBP1L, C1orf39, TOCA1, formin binding protein 1 like
External IDs	OMIM: 608848 HomoloGene: 133802 GeneCards: FNBP1L
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p22.1 Start 93,448,131 bp[1] End 93,554,661 bp[1]
Gene ontology Molecular function • GO:0001948 protein binding • lipid binding • GTPase binding • cadherin binding Cellular component • cytoplasm • membrane • cell membrane • cell cortex • cytoskeleton • cytoplasmic vesicle • cytosol Biological process • endocytosis • vesicle organization • membrane invagination • plasma membrane tubulation • autophagy • clathrin-dependent endocytosis • vesicle budding from membrane • vesicle transport along actin filament • positive regulation of filopodium assembly • cilium morphogenesis • membrane organization Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	54874	n/a
Ensembl	ENSG00000137942	n/a
UniProt	Q5T0N5	n/a
RefSeq (mRNA)	NM_001024948 NM_001164473 NM_017737	n/a
RefSeq (protein)	NP_001020119 NP_001157945 NP_060207	n/a
Location (UCSC)	Chr 1: 93.45 – 93.55 Mb	n/a
PubMed search	[2]	n/a
Wikidata
View/Edit Human

Function

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.[4]

Clinical significance

FNBP1L polymorphisms, specifically the SNP rs236330 has been associated with normally varying intelligence differences in adults[5] and in children.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000137942 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. Katoh M, Katoh M (Dec 2003). "Identification and characterization of human FNBP1L gene in silico". Int J Mol Med. 13 (1): 157–62. doi:10.3892/ijmm.13.1.157. PMID 14654988.
4. "Entrez Gene: FNBP1L formin binding protein 1-like".
5. Davies G, Tenesa A, Payton A, Yang J, Harris SE, Liewald D, Ke X, Le Hellard S, Christoforou A, Luciano M, McGhee K, Lopez L, Gow AJ, Corley J, Redmond P, Fox HC, Haggarty P, Whalley LJ, McNeill G, Goddard ME, Espeseth T, Lundervold AJ, Reinvang I, Pickles A, Steen VM, Ollier W, Porteous DJ, Horan M, Starr JM, Pendleton N, Visscher PM, Deary IJ (October 2011). "Genome-wide association studies establish that human intelligence is highly heritable and polygenic". Mol. Psychiatry. 16 (10): 996–1005. doi:10.1038/mp.2011.85. PMC 3182557. PMID 21826061.
6. Benyamin B, Pourcain B, Davis OS, Davies G, Hansell NK, Brion MJ, Kirkpatrick RM, Cents RA, Franić S, Miller MB, Haworth CM, Meaburn E, Price TS, Evans DM, Timpson N, Kemp J, Ring S, McArdle W, Medland SE, Yang J, Harris SE, Liewald DC, Scheet P, Xiao X, Hudziak JJ, de Geus EJ, Jaddoe VW, Starr JM, Verhulst FC, Pennell C, Tiemeier H, Iacono WG, Palmer LJ, Montgomery GW, Martin NG, Boomsma DI, Posthuma D, McGue M, Wright MJ, Davey Smith G, Deary IJ, Plomin R, Visscher PM (January 2013). "Childhood intelligence is heritable, highly polygenic and associated with FNBP1L". Mol. Psychiatry. 19 (2): 253–8. doi:10.1038/mp.2012.184. PMC 3935975. PMID 23358156.

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• 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. PMID 14702039.
• 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. PMID 15260990. S2CID 15516629.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• 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. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
• 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. PMID 16326391.
• Tsujita K, Suetsugu S, Sasaki N, et al. (2006). "Coordination between the actin cytoskeleton and membrane deformation by a novel membrane tubulation domain of PCH proteins is involved in endocytosis". J. Cell Biol. 172 (2): 269–79. doi:10.1083/jcb.200508091. PMC 2063556. PMID 16418535.
• 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. PMID 16630611.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi:10.1038/nature04727. PMID 16710414.
• Kovacs EM, Makar RS, Gertler FB (2006). "Tuba stimulates intracellular N-WASP-dependent actin assembly". J. Cell Sci. 119 (Pt 13): 2715–26. doi:10.1242/jcs.03005. PMID 16757518.
• 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. PMID 16885158.