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Filamin A Alpha (FLNa)

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ABP280; FLN-A; ABPX; FLN; FLN1; FMD; MNS; NHBP; OPD; OPD1; OPD2; Actin Binding Protein 280; Endothelial actin-binding protein; Filamin-1; Non-muscle filamin

Filamin A Alpha (FLNa)
CCC C214
HGNC 3754
MGI 95556
PubMed 22238415
UniProt P21333
Wiki Filamin_A
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. Filamin A 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC214Hu01 Recombinant Filamin A Alpha (FLNa) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC214Hu01 Polyclonal Antibody to Filamin A Alpha (FLNa) WB; IHC; ICC; IP.
MAC214Hu21 Monoclonal Antibody to Filamin A Alpha (FLNa) WB; IHC; ICC; IP.
Assay Kits SEC214Hu ELISA Kit for Filamin A Alpha (FLNa) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Filamin A Alpha (FLNa) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Filamin A Alpha (FLNa) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Filamin A Alpha (FLNa) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Filamin A Alpha (FLNa) CLIA Kit Customized Service Offer
n/a ELISA Kit for Filamin A Alpha (FLNa) ELISA Kit Customized Service Offer
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  8. , Submitted (NOV-2005) to UniProtKB
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  13. "Localization and enhanced current density of the Kv4.2 potassium channel by interaction with the actin-binding protein filamin."J. Neurosci. 20:8736-8744(2000) [PubMed] [Europe PMC] [Abstract]
  14. "The SH2-containing inositol polyphosphate 5-phosphatase, SHIP-2, binds filamin and regulates submembraneous actin."J. Cell Biol. 155:1065-1079(2001) [PubMed] [Europe PMC] [Abstract]
  15. "Filamin A and filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact."Hum. Mol. Genet. 11:2845-2854(2002) [PubMed] [Europe PMC] [Abstract]
  16. "The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins."J. Cell Sci. 118:3739-3749(2005) [PubMed] [Europe PMC] [Abstract]
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  23. "Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement."Am. J. Hum. Genet. 80:751-758(2007) [PubMed] [Europe PMC] [Abstract]
  24. "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra."J. Proteome Res. 6:4150-4162(2007) [PubMed] [Europe PMC] [Abstract]
  25. "ECSM2, an endothelial specific filamin a binding protein that mediates chemotaxis."Arterioscler. Thromb. Vasc. Biol. 28:1640-1646(2008) [PubMed] [Europe PMC] [Abstract]
  26. "Filamin A stabilizes FcgammaRI surface expression and prevents its lysosomal routing."J. Immunol. 180:3938-3945(2008) [PubMed] [Europe PMC] [Abstract]
  27. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
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  32. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
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  35. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  36. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  37. "Identification of novel nuclear protein interactions with the N-terminal part of filamin A."Biosci. Biotechnol. Biochem. 75:145-147(2011) [PubMed] [Europe PMC] [Abstract]
  38. "Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome."Blood 118:5928-5937(2011) [PubMed] [Europe PMC] [Abstract]
  39. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  40. "A meckelin-filamin A interaction mediates ciliogenesis."Hum. Mol. Genet. 21:1272-1286(2012) [PubMed] [Europe PMC] [Abstract]
  41. "Junctional Rab13-binding protein (JRAB) regulates cell spreading via filamins."Genes Cells 18:810-822(2013) [PubMed] [Europe PMC] [Abstract]
  42. "Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations."Genet. Med. 15:310-313(2013) [PubMed] [Europe PMC] [Abstract]
  43. "ASB2alpha, an E3 ubiquitin ligase specificity subunit, regulates cell spreading and triggers proteasomal degradation of filamins by targeting the filamin calponin homology 1 domain."J. Biol. Chem. 288:32093-32105(2013) [PubMed] [Europe PMC] [Abstract]
  44. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  45. "Structure of three tandem filamin domains reveals auto-inhibition of ligand binding."EMBO J. 26:3993-4004(2007) [PubMed] [Europe PMC] [Abstract]
  46. "Structure of the human filamin A actin-binding domain."Acta Crystallogr. D 65:1217-1221(2009) [PubMed] [Europe PMC] [Abstract]
  47. "Atomic structures of two novel immunoglobulin-like domain pairs in the actin cross-linking protein filamin."J. Biol. Chem. 284:25450-25458(2009) [PubMed] [Europe PMC] [Abstract]
  48. "Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females." Hum. Mol. Genet. 10:1775-1783(2001) [PubMed] [Europe PMC] [Abstract]
  49. "Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex."Acta Neuropathol. 104:649-657(2002) [PubMed] [Europe PMC] [Abstract]
  50. "Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene."Neurology 58:916-921(2002) [PubMed] [Europe PMC] [Abstract]
  51. "Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans."Nat. Genet. 33:487-491(2003) [PubMed] [Europe PMC] [Abstract]
  52. "Germline and mosaic mutations of FLN1 in men with periventricular heterotopia."Neurology 63:51-56(2004) [PubMed] [Europe PMC] [Abstract]
  53. "A novel 9 bp deletion in the filamin A gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype."Am. J. Med. Genet. A 132:386-390(2005) [PubMed] [Europe PMC] [Abstract]
  54. "A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation."Am. J. Med. Genet. A 136:190-193(2005) [PubMed] [Europe PMC] [Abstract]
  55. "Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome." Neurology 64:254-262(2005) [PubMed] [Europe PMC] [Abstract]
  56. "Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia."Am. J. Med. Genet. A 140:1069-1073(2006) [PubMed] [Europe PMC] [Abstract]
  57. "Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation."J. Med. Genet. 43:232-237(2006) [PubMed] [Europe PMC] [Abstract]
  58. "Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings."Am. J. Med. Genet. A 143:1120-1125(2007) [PubMed] [Europe PMC] [Abstract]
  59. "Filamin A mutation is one cause of FG syndrome."Am. J. Med. Genet. A 143:1876-1879(2007) [PubMed] [Europe PMC] [Abstract]
  60. "Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy."Circulation 115:40-49(2007) [PubMed] [Europe PMC] [Abstract]
  61. "Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene."Am. J. Hum. Genet. 87:146-153(2010) [PubMed] [Europe PMC] [Abstract]