Gene Section Review Atlas Genet Cytogenet Oncol Haematol. 2017; 21(5) 166 Atlas of Genetics and Cytogenetics in Oncology and Haematology INIST-CNRS OPEN ACCESS JOURNAL FMNL1 (formin like 1) methyltransferase) Matheus Rodrigues Lopes, Patricia Favaro Hematology and Hemotherapy Center, University of Campinas - UNICAMP, Instituto Nacional de Ciência e Tecnologia do Sangue, Campinas São Paulo (MRL, PF), MRL Presently at Federal University of Vale do São Francisco at Paulo Afonso, Bahia; Department of Biological Sciences, Federal University of São Paulo (PF), Diadema, São Paulo, Brazil. matheuslopesbio@gmail.com, favaropb@gmail.com Published in Atlas Database: October 2016 Online updated version : http://AtlasGeneticsOncology.org/Genes/FMNL1ID46313ch17q21.html Printable original version : http://documents.irevues.inist.fr/bitstream/handle/2042/68240/10-2016-FMNL1ID46313ch17q21.pdf DOI: 10.4267/2042/68240 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2017 Atlas of Genetics and Cytogenetics in Oncology and Haematology Abstract Formin-like 1 (FMNL1) is a member of the Formin protein family, which are regulators of actin and microtubule cytoskeletal dynamics. FMNL1 belongs to the subfamily of formins knows as Diaphanous- related formins (DRF) and is involved in processes such as phagocytosis, cell adhesion, podosome dynamics, cell migration, cytokinesis, and polarity control. It has been suggested that spatial and temporal regulation of FMNL1 is controlled by small Rho GTPases. The present review contains data on FMNL1 DNA/RNA, protein encoded and function. Identity Other names: FRL1, FRL alpha HGNC (Hugo): FMNL1 Location: 17q21.31 DNA/RNA Description FMNL1 full-length cDNA (Favaro et al., 2003) was obtained from the EST IL5-MT0208-210201-356- f01 (GenBank Accession No. BI028593), generated from the Human Cancer Genome Project (Dias Neto et al., 2000). The entire FMNL1 gene is located in chromosome 17 (17q21) and has a size of approximately 25.8 Kb (start: 45221444 and end: 45247320 bp; orientation: Plus strand) and contains 17 exons. The FMNL1 cDNA contains 3973 bp and is located in chromosome 17 (17q21). Protein Description Formin proteins are characterized by a unique and highly conserved C-terminal formin homology (FH) 2 domain, responsible for its interaction with actin (Wallar and Alberts, 2003; Higgs, 2005). Diaphanous-related formins (DRF) are characterized by regulatory domains at the N-terminus, including the GTPase binding domain (GBD), Diaphanous inhibitory domain (DID), and dimerization domain (DD), and a single C-terminal Diaphanous autoregulatory domain (DAD) (Figure 1). DRFs are regulated by an autoinhibitory interaction of DAD with DID (Li and Higgs, 2003). This autoinhibition is relieved through binding of an activated RhoGTPase to the GBD, resulting in activation of formin to polymerize actin filaments (Kuhn and Geyer, 2014)(Figure 2). Figure 1. Domain structure of FMNL1. Amino acid positions are identified. GBD; GTPase binding domain, DID; Diaphanous inhibitory domain; DD; dimerization domain. FH1 and FH2; Formin homology 1 and 2 domain. DAD; Diaphanous autoregulatory domain.