title: The exon-intron organization of the human X-linked gene (FLN1) encoding actin-binding protein 280.
abstract: We have determined the exon-intron organization of the human X-linked gene (FLN1) encoding actin-binding protein 280 (filamin), a ubiquitous protein that plays an important role in the mechanochemical activities of cells through its association with actin filaments and membrane components. The gene is composed of 47 exons spanning approximately 26 kb. The first and part of the second exon are untranslated. The actin-binding domain at the N-terminus is encoded by exons 2 to 5. The 96-amino-acid repeats corresponding to the elongated rod backbone of the protein are encoded by the remaining 42 exons: size, location, and boundaries of the exons cannot be easily correlated with the repeated structure, while sequences interrupting the repeats (the two hinge segments preceding repeats 16 and 24 and the 8-amino-acid (aa) segment interrupting the 15th repeat) were encoded by separate exons, suggesting that they may be recent additions to the X-linked protein. The 8-aa segment is encoded by exon 29, which is alternatively spliced.
authors.affiliation: Istituto Tecnologie Biomediche Avanzate, CNR, Milan, Italy.
authors.forename: M C
authors.initials: MC
authors.lastname: Patrosso
authors.forename: M
authors.initials: M
authors.lastname: Repetto
authors.forename: A
authors.initials: A
authors.lastname: Villa
authors.forename: L
authors.initials: L
authors.lastname: Milanesi
authors.forename: A
authors.initials: A
authors.lastname: Frattini
authors.forename: S
authors.initials: S
authors.lastname: Faranda
authors.forename: M
authors.initials: M
authors.lastname: Mancini
authors.forename: E
authors.initials: E
authors.lastname: Maestrini
authors.forename: D
authors.initials: D
authors.lastname: Toniolo
authors.forename: P
authors.initials: P
authors.lastname: Vezzoni
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003285:Contractile Proteins / Q000737:chemistry / Q000235:genetics*; D005091:Exons; D064448:Filamins; D005796:Genes; D006801:Humans; D007438:Introns; D008840:Microfilament Proteins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D017434:Protein Structure, Tertiary; D012326:RNA Splicing; D012091:Repetitive Sequences, Nucleic Acid; D014960:X Chromosome
chemical_list: D003285:Contractile Proteins; C578663:FLNA protein, human; C578661:FLNC protein, human; D064448:Filamins; D008840:Microfilament Proteins