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Description for Protein FLNA

filamin A, alpha
79 total interacting proteins; 38 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 15/3)
(cAMP/cGMP binding: 1; membrane: 2; phosphoproteome: 1; platelet: 13; secretome: 3; undefined: 2)
Summary:
The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene. (PubMed Links)
Domains and Motifs:
  • CH: Calponin homology domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04437
    KEGG - Pathway(s):
    hsa04010; hsa04510
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Nonmuscle filamin; Filamin alpha; Filamin 1; FLN1; FLN; Actin binding protein 280; ABP280; Alpha-filamin; Endothelial actin-binding protein; hsFLNa; FMD; MNS; OPD; ABPX; NHBP; OPD1; OPD2; ABP-280; Filamin A; DKFZp434P031
    Approved Symbol:
    FLNA
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 82
    Human (de-) phosphorylation sites: 82; Platelet phosphorylation sites: 4
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Frontometaphyseal dysplasia(Pd);
  • Frontometaphyseal dysplasia/otopalatodigital syndrome type 1(Pd);
  • Heterotopia, periventricular(Pd);
  • Heterotopia, periventricular, Ehlers-Danlos variant(Pd);
  • Heterotopia, periventricular, with frontometaphyseal dysplasia(Pd);
  • Heterotopia, periventricular/cerebrofrontofacial syndrome(Pd);
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked(Pd);
  • Melnick-needles syndrome(Pd);
  • Otopalatodigital syndrome, type I(Pd);
  • Otopalatodigital syndrome, type II(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02060 Entrez Gene ID: 2316 OMIM ID: 300017 Swissprot Accession: P21333; Q60FE5; Q6NXF2;