FLNA

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Protein-coding gene in humans

title: "FLNA" type: doc version: 1 created: 2026-02-28 author: "Wikipedia contributors" status: active scope: public description: "Protein-coding gene in humans" topic_path: "uncategorized" source: "https://en.wikipedia.org/wiki/FLNA" license: "CC BY-SA 4.0" wikipedia_page_id: 0 wikipedia_revision_id: 0

::summary Protein-coding gene in humans ::

Filamin A, alpha (FLNA) is a protein that in humans is encoded by the FLNA gene.

Structure

The structure of filamin A, alpha includes an actin binding N terminal domain, 24 internal repeats and 2 hinge regions.

Function

Actin-binding protein, or filamin, is a 280-kD protein that crosslinks actin filaments into orthogonal networks in cortical cytoplasm and participates in the anchoring of membrane proteins for the actin cytoskeleton. Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the FLNA gene, is a widely expressed filamin that regulates the reorganization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes, and secondary messengers. At least 31 disease-causing mutations in this gene have been discovered.

DNA repair

Interaction of FLNA with the BRCA1 protein is required for efficient regulation of early stages of DNA repair processes. FLNA is implicated in the control of the DNA repair process of homologous recombination and non-homologous end joining.

Interactions

Filamin has been shown to interact with:

References

References

  1. (October 1993). "Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28". Genomics.
  2. (March 2003). "Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans". Nature Genetics.
  3. (February 1976). "Relations between the electrical potential, pH gradient, proton flux and phosphorylation in the photosynthetic membrane". Biochimica et Biophysica Acta (BBA) - Bioenergetics.
  4. "P21333 (FLNA_HUMAN): Filamin-A". UniProt.
  5. "Entrez Gene: FLNA filamin A, alpha (actin binding protein 280)".
  6. (December 2019). "Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases". Scientific Reports.
  7. (April 2010). "Identification of Filamin A as a BRCA1-interacting protein required for efficient DNA repair". Cell Cycle.
  8. (December 2001). "Interaction with BRCA2 suggests a role for filamin-1 (hsFLNa) in DNA damage response". Journal of Biological Chemistry.
  9. (January 2002). "Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits". The Journal of Cell Biology.
  10. (September 1998). "Filamin binds to the cytoplasmic domain of the beta1-integrin. Identification of amino acids responsible for this interaction". Journal of Biological Chemistry.
  11. (September 2001). "Filamin-A binds to the carboxyl-terminal tail of the calcium-sensing receptor, an interaction that participates in CaR-mediated activation of mitogen-activated protein kinase". Journal of Biological Chemistry.
  12. (September 2001). "Interaction of the calcium-sensing receptor and filamin, a potential scaffolding protein". Journal of Biological Chemistry.
  13. (April 2003). "Migfilin and Mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation". Cell.
  14. (July 2002). "Filamin A-interacting protein (FILIP) regulates cortical cell migration out of the ventricular zone". Nature Cell Biology.
  15. (November 2002). "Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact". Human Molecular Genetics.
  16. (August 2002). "Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity". Journal of Biological Chemistry.
  17. (March 1999). "The small GTPase RalA targets filamin to induce filopodia". Proceedings of the National Academy of Sciences of the United States of America.
  18. (August 2000). "Identification of actin binding protein, ABP-280, as a binding partner of human Lnk adaptor protein". Molecular Immunology.
  19. (December 2000). "The Rac1- and RhoG-specific GEF domain of Trio targets filamin to remodel cytoskeletal actin". Nature Cell Biology.
  20. (July 1996). "Identification of a novel protein (VBP-1) binding to the von Hippel-Lindau (VHL) tumor suppressor gene product". Cancer Research.
  21. (October 2002). "The von Hippel-Lindau tumor suppressor stabilizes novel plant homeodomain protein Jade-1". Journal of Biological Chemistry.

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