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    FLNA filamin A, alpha [ Homo sapiens ]

    Gene ID: 2316, updated on 19-May-2012
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    Summary

    Official Symbol
    FLNAprovided by HGNC
    Official Full Name
    filamin A, alphaprovided by HGNC
    Primary source
    HGNC:3754
    Locus tag
    XX-FW83128A1.1
    See related
    Ensembl:ENSG00000196924; HPRD:02060; MIM:300017; Vega:OTTHUMG00000022712
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FLN; FMD; MNS; OPD; ABPX; CVD1; FLN1; NHBP; OPD1; OPD2; XLVD; XMVD; FLN-A; ABP-280; FLJ43642; DKFZp434P031
    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.[provided by RefSeq, Mar 2009]
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    Genomic context

    Location :
    Xq28
    Sequence :
    Chromosome: X; NC_000023.10 (153576900..153603006, complement)
    See FLNA in Epigenomics, MapViewer

    Chromosome X - NC_000023.10Genomic Context describing neighboring genes Neighboring gene testis expressed 28 Neighboring gene transketolase-like 1 Neighboring gene emerin Neighboring gene small nucleolar RNA, H/ACA box 70 Neighboring gene ribosomal protein L10

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Cytoskeletal protein filamin A is a nucleolar protein that suppresses ribosomal RNA gene transcription. Deng W, et al. Proc Natl Acad Sci U S A, 2012 Jan 31. PMID 22307607.
    2. FLNA genomic rearrangements cause periventricular nodular heterotopia. Clapham KR, et al. Neurology, 2012 Jan 24. PMID 22238415.
    3. GPIbα regulates platelet size by controlling the subcellular localization of filamin. Kanaji T, et al. Blood, 2012 Mar 22. PMID 22174152.
    4. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    5. Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. Nurden P, et al. Blood, 2011 Nov 24. PMID 21960593.

    See all (226) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. filamin A is involved in the distinct step of the Gag trafficking pathway.
      Title: Filamin A protein interacts with human immunodeficiency virus type 1 Gag protein and contributes to productive particle assembly.
    2. these data demonstrate that coordinated expression of GPIbalpha and filamin is required for efficient trafficking of either protein to the cell surface, and for production of normal-sized platelets.
      Title: GPIbα regulates platelet size by controlling the subcellular localization of filamin.
    3. findings reveal an additional role for FLNA as a regulator of rRNA gene expression and have important implications for our understanding of the role of FLNA in human disease
      Title: Cytoskeletal protein filamin A is a nucleolar protein that suppresses ribosomal RNA gene transcription.
    4. Review: describe the genetic, echocardiographic and functional aspects of the filamin-A-related myxomatous mitral valve dystrophy.
      Title: Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects.
    5. These results demonstrate that FLNA is prone to pathogenic rearrangements
      Title: FLNA genomic rearrangements cause periventricular nodular heterotopia.
    6. mutations in FLNA may represent an unrecognized cause of macrothrombocytopenia with an altered platelet production and a modified platelet-vessel wall interaction
      Title: Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
    7. study reports on two brothers with X-linked cardiac valvular dystrophy and a hemizygous FLNA mutation and review previously described cases from the literature
      Title: Familial cardiac valvulopathy due to filamin A mutation.
    8. Consistent with structural predictions, strain increases beta-integrin binding to FLNA, whereas it causes FilGAP to dissociate from FLNA, providing a direct and specific molecular basis for cellular mechanotransduction
      Title: Mechanical strain in actin networks regulates FilGAP and integrin binding to filamin A.
    9. Hepatitis C virus nonstructural (NS) 3 and NS5A proteins were associated with filamin A, while core protein partially with filamin A and vimentin.
      Title: Association of filamin A and vimentin with hepatitis C virus proteins in infected human hepatocytes.
    10. regulates actin-linked caveolae dynamics following loss of cell adhesion
      Title: Phosphorylated filamin A regulates actin-linked caveolae dynamics.
    Submit: New GeneRIF Correction See all (112)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Cardiac valvular dysplasia, X-linked

    FG syndrome 2

    Frontometaphyseal dysplasia

    Heterotopia, periventricular nodular, with frontometaphyseal dysplasia

    Summary from GeneReviews: Go to GeneReviews

    Disease Characteristics
    X-linked periventricular heterotopia (PH), a neuronal migration disorder, is characterized by the presence of uncalcified nodules of neurons ectopically situated along the surface of the lateral ventricles. Affected individuals are predominantly heterozygous females; males show early lethality. Affected females present with seizures at an average age of 14-15 years; intelligence ranges from normal to borderline. The risk for stroke and other vascular/coagulation problems appears to be increased.
    Diagnosis Testing
    The diagnosis of X-linked PH is established by brain MRI or CT imaging. FLNA encoding filamin-A is the only gene currently known to be associated with X-linked PH. Molecular genetic testing is clinically available.
    Genetic Counseling
    X-linked PH is inherited in an X-linked dominant manner. The condition is prenatally or neonatally lethal in most males; therefore, the majority of affected individuals are female. About 50% of affected females inherit the gene mutation from their mother and at least 50% have a de novo mutation. For women with X-linked PH, the risk of passing the mutation to each child is 50%. Because of the high rate of prenatal lethality in males, most sons born to women with X-linked PH are unaffected. Prenatal diagnosis by molecular genetic testing is available if the disease-causing mutation has been identified in an affected relative. The periventricular nodules can be visualized by ultrasound examination as early as 24 weeks' gestation, but the sensitivity of this finding is not known.
    References

    Heterotopia, periventricular, ED variant

    Intestinal pseudoobstruction, neuronal

    Melnick-Needles syndrome

    Otopalatodigital syndrome, type I

    Terminal osseous dysplasia

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol A number of focal adhesion plaque proteins are specifically cleaved by HIV-1 protease, including fimbrin, focal adhesion plaque kinase (FAK), talin, and, to a lesser extent, filamin, spectrin and fibronectin PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_001447.1 NP_000050.1 BRCA2    BIND  PubMed BRCA2 interacts with hsFLNa. 
    NP_001447.1 NP_000786.1 DRD2    BIND  PubMed Dopamine receptor D2 interacts with filamin A. This interaction was modeled on a demonstrated interaction between human FLN-A and D2 from unspecified source. 
    NP_001447.1 NP_057658.2 DRD2    BIND  PubMed Dopamine receptor D2 interacts with filamin A. This interaction was modeled on a demonstrated interaction between human FLN-A and D2 from unspecified source. 
    NP_001447.1 NP_000787.1 DRD3    BIND  PubMed Dopamine receptor D3 interacts with filamin A. This interaction was modeled on a demonstrated interaction between human FLN-A and D3 from unspecified source. 
    NP_001447.1 NP_387512.1 DRD3    BIND  PubMed Dopamine receptor D3 interacts with filamin A. This interaction was modeled on a demonstrated interaction between human FLN-A and D3 from unspecified source. 
    NP_001447.1 NP_000542.1 VHL    BIND  PubMed The von Hippel-Lindau tumor suppressor protein (pVHL) interacts with FLNA . 
    P21333 P10275 AR    HPRD  PubMed  
    P21333 Q8N264 ARHGAP24    HPRD  PubMed  
    P21333 P49407 ARRB1    HPRD  PubMed  
    P21333 P32121 ARRB2    HPRD  PubMed  
    P21333 P51587 BRCA2    HPRD  PubMed  
    P21333 P30988 CALCR    HPRD  PubMed  
    P21333 Q13555 CAMK2G    HPRD  PubMed  
    P21333 P41180 CASR    HPRD  PubMed  
    P21333 Q03135 CAV1    HPRD  PubMed  
    P21333 P14635 CCNB1    HPRD  PubMed  
    P21333 P60953 CDC42    HPRD  PubMed  
    P21333 P13688 CEACAM1    HPRD  PubMed  
    P21333 CMIP CMIP    HPRD  PubMed  
    P21333 P07585 DCN    HPRD  PubMed  
    P21333 P21728 DRD1    HPRD  PubMed  
    P21333 P14416 DRD2    HPRD  PubMed  
    P21333 P35462 DRD3    HPRD  PubMed  
    P21333 P21860 ERBB3    HPRD  PubMed  
    P21333 P13726 F3    HPRD  PubMed  
    P21333 Q8WUP2 FBLIM1    HPRD  PubMed  
    P21333 O75369 FLNB    HPRD  PubMed  
    P21333 P09958 FURIN    HPRD  PubMed  
    P21333 P07359 GP1BA    HPRD  PubMed  
    P21333 P39086 GRIK1    HPRD  PubMed  
    P21333 Q13003 GRIK3    HPRD  PubMed  
    P21333 Q14833 GRM4    HPRD  PubMed  
    P21333 P41594 GRM5    HPRD  PubMed  
    P21333 Q14831 GRM7    HPRD  PubMed  
    P21333 O00222 GRM8    HPRD  PubMed  
    P21333 P05556 ITGB1    HPRD  PubMed  
    P21333 P18084 ITGB5    HPRD  PubMed  
    P21333 P26010 ITGB7    HPRD  PubMed  
    P21333 P63252 KCNJ2    HPRD  PubMed  
    P21333 P02545 LMNA    HPRD  PubMed  
    P21333 P45985 MAP2K4    HPRD  PubMed  
    P21333 Q16539 MAPK14    HPRD  PubMed  
    P21333 P48039 MTNR1A    HPRD  PubMed  
    P21333 P49286 MTNR1B    HPRD  PubMed  
    P21333 Q9UBF9 MYOT    HPRD  PubMed  
    P21333 O15259 NPHP1    HPRD  PubMed  
    P21333 P35372 OPRM1    HPRD  PubMed  
    P21333 Q13153 PAK1    HPRD  PubMed  
    P21333 Q15366 PCBP2    HPRD  PubMed  
    P21333 P17252 PRKCA    HPRD  PubMed  
    P21333 P49768 PSEN1    HPRD  PubMed  
    P21333 P49810 PSEN2    HPRD  PubMed  
    P21333 P63000 RAC1    HPRD  PubMed  
    P21333 P11233 RALA    HPRD  PubMed  
    P21333 P61586 RHOA    HPRD  PubMed  
    P21333 P16581 SELE    HPRD  PubMed  
    P21333 Q9UQQ2 SH2B3    HPRD  PubMed  
    P21333 P04278 SHBG    HPRD  PubMed  
    P21333 Q96LC7 SIGLEC10    HPRD  PubMed  
    P21333 P84022 SMAD3    HPRD  PubMed  
    P21333 Q99717 SMAD5    HPRD  PubMed  
    P21333 Q9BXR5 TLR10    HPRD  PubMed  
    P21333 TNFAIP3 interacting protein 2 TNIP2    HPRD  PubMed  
    P21333 Q12933 TRAF2    HPRD  PubMed  
    P21333 O75962 TRIO    HPRD  PubMed  
    P21333 Q8WZ42 TTN    HPRD  PubMed  
    P21333 P40337 VHL    HPRD  PubMed  
    P21333 P61981 YWHAG    HPRD  PubMed  
    BioGRID:108605 BioGRID:106821 APC    BioGRID  PubMed Two-hybrid 
    BioGRID:108605 BioGRID:106862 AR    BioGRID  PubMed Two-hybrid 
    BioGRID:108605 BioGRID:114342 BANF1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108605 BioGRID:107142 BRCA2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108605 BioGRID:115889 CAMKK2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108605 BioGRID:107296 CASR    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108605 BioGRID:123313 CMIP    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108605 BioGRID:108002 DCN    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108605 BioGRID:108102 DMWD    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108605 BioGRID:108147 DRD2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108605 BioGRID:108148 DRD3    BioGRID  PubMed Two-hybrid 
    BioGRID:108605 BioGRID:128177 EIF2C3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108605 BioGRID:108451 F3    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108605 BioGRID:120128 FBLIM1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108605 BioGRID:118029 FILIP1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108605 BioGRID:108606 FLNB    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108605 BioGRID:115448 G3BP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108605 BioGRID:109073 GP1BA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108605 BioGRID:249569 Grm7    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108605 BioGRID:115331 HDAC5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108605 BioGRID:109894 ITGB1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex; Two-hybrid 
    BioGRID:108605 BioGRID:109896 ITGB3    BioGRID  PubMed Two-hybrid 
    BioGRID:108605 BioGRID:109900 ITGB6    BioGRID  PubMed Two-hybrid 
    BioGRID:108605 BioGRID:109901 ITGB7    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108605 BioGRID:107819 MAPK14    BioGRID  PubMed Two-hybrid 
    BioGRID:108605 BioGRID:114878 MYOT    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108605 BioGRID:110927 NPHP1    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108605 BioGRID:128638 OTUD1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108605 BioGRID:120738 OTUD5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108605 BioGRID:111834 RALA    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:108605 BioGRID:115336 SH2B3    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:108605 BioGRID:112592 SRC    BioGRID  PubMed Two-hybrid 
    BioGRID:108605 BioGRID:113188 SUMO1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108605 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108605 BioGRID:112707 SVIL    BioGRID  PubMed Two-hybrid 
    BioGRID:108605 BioGRID:112937 TJP1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108605 BioGRID:113038 TRAF2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108605 BioGRID:113055 TRIO    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:108605 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108605 BioGRID:124430 USP45    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108605 BioGRID:113269 VHL    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Androgen Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Androgen Receptor Signaling Pathway, organism-specific biosystemThe androgen receptor is a member of the nuclear receptor family of ligand activated transcription factors. These receptors bind to steroid hormones, thyroid hormone, retinoids and vitamin D among ot...
    • Cell junction organization, organism-specific biosystem (from REACTOME)
      Cell junction organization, organism-specific biosystem
      Cell junction organization
    • Cell-Cell communication, organism-specific biosystem (from REACTOME)
      Cell-Cell communication, organism-specific biosystemCell-to-Cell communication is crucial for multicellular organisms because it allows organisms to coordinate the activity of their cells. Some cell-to-cell communication requires direct cell-cell cont...
    • Cell-extracellular matrix interactions, organism-specific biosystem (from REACTOME)
      Cell-extracellular matrix interactions, organism-specific biosystemCellâ??extracellular matrix (ECM) interactions play a critical role in regulating a variety of cellular processes in multicellular organisms including motility, shape change, survival, proliferation ...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • GP1b-IX-V activation signalling, organism-specific biosystem (from REACTOME)
      GP1b-IX-V activation signalling, organism-specific biosystemThe platelet GPIb complex (GP1b-IX-V) together with GPVI are primarily responsible for regulating the initial adhesion of platelets to the damaged blood vessel and platelet activation. The importance...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • MAPK signaling pathway, organism-specific biosystem (from WikiPathways)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • Noncanonical Wnt signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Noncanonical Wnt signaling pathway, organism-specific biosystem
      Noncanonical Wnt signaling pathway
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
    • Salmonella infection, organism-specific biosystem (from KEGG)
      Salmonella infection, organism-specific biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
    • Salmonella infection, conserved biosystem (from KEGG)
      Salmonella infection, conserved biosystemSalmonella infection usually presents as a self-limiting gastroenteritis or the more severe typhoid fever and bacteremia. The common disease-causing Salmonella species in human is a single species, S...
    • TCR signaling in naive CD4+ T cells, organism-specific biosystem (from Pathway Interaction Database)
      TCR signaling in naive CD4+ T cells, organism-specific biosystem
      TCR signaling in naive CD4+ T cells
    • TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem"The Tumor Necrosis Factor alpha is a proinflammatory cytokine belonging to the TNF superfamily. It signals through 2 separate receptors - TNFRSF1A and TNFRSF1B, both members of the TNF receptor supe...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Fc-gamma receptor I complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Rac GTPase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Ral GTPase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Rho GTPase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    actin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    actin filament binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    glycoprotein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein kinase C binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    signal transducer activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    small GTPase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    actin crosslink formation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    actin cytoskeleton reorganization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    blood coagulation TAS
    Traceable Author Statement
    more info
    		  
    cell junction assembly TAS
    Traceable Author Statement
    more info
    		  
    cytoplasmic sequestering of protein IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    early endosome to late endosome transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    establishment of protein localization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    inhibition of adenylate cyclase activity by dopamine receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    negative regulation of protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    negative regulation of sequence-specific DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    platelet activation TAS
    Traceable Author Statement
    more info
    		  
    platelet degranulation TAS
    Traceable Author Statement
    more info
    		  
    positive regulation of I-kappaB kinase/NF-kappaB cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    positive regulation of transcription factor import into nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    protein localization at cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    receptor clustering IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    spindle assembly involved in mitosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    Myb complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    actin cytoskeleton IC
    Inferred by Curator
    more info
    		 PubMed 
    actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cell cortex IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    trans-Golgi network IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    filamin-A
    Names
    filamin-A
    filamin-1
    alpha-filamin
    non-muscle filamin
    actin binding protein 280
    endothelial actin-binding protein
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011506.1 RefSeqGene

      Range
      5001..31107
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001110556.1 → NP_001104026.1  filamin-A isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate in-frame exon and encodes a slightly longer protein isoform (2).
      Source sequence(s)
      AB191260, BC067111, BP235228, X53416
      Consensus CDS
      CCDS48194.1
      UniProtKB/TrEMBL
      E9KL45
      UniProtKB/Swiss-Prot
      P21333
      UniProtKB/TrEMBL
      Q60FE5
      UniProtKB/TrEMBL
      Q6NXF2
      Related
      ENSP00000358866, OTTHUMP00000024321, ENST00000369850, OTTHUMT00000058942
      Conserved Domains (3) summary
      cd00014
      Location:44 – 148
      Blast Score: 254
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      smart00557
      Location:1448 – 1542
      Blast Score: 303
      IG_FLMN; Filamin-type immunoglobulin domains
      pfam00630
      Location:1445 – 1536
      Blast Score: 258
      Filamin; Filamin/ABP280 repeat

    2. NM_001456.3 → NP_001447.2  filamin-A isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the predominant transcript and encodes a slightly shorter protein isoform (1).
      Source sequence(s)
      AB191260, BC067111, BP235228, X53416
      Consensus CDS
      CCDS44021.1
      UniProtKB/Swiss-Prot
      P21333
      UniProtKB/TrEMBL
      Q60FE5
      UniProtKB/TrEMBL
      Q6NXF2
      Related
      ENSP00000416926, ENST00000422373
      Conserved Domains (3) summary
      cd00014
      Location:44 – 148
      Blast Score: 254
      CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
      smart00557
      Location:1448 – 1542
      Blast Score: 303
      IG_FLMN; Filamin-type immunoglobulin domains
      pfam00630
      Location:1445 – 1536
      Blast Score: 258
      Filamin; Filamin/ABP280 repeat

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000023.10 Reference GRCh37.p5 Primary Assembly

      Range
      153576900..153603006, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000155.1 Alternate HuRef

      Range
      142154186..142180218, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic BX664723.2 (20677..33312) None
    genomic BX936346.4 (1999..15469) None
    genomic CH471172.2 EAW72744.1
      EAW72745.1
      EAW72746.1
      EAW72747.1
      EAW72748.1
    genomic JA780914.1 CCH22601.1
    genomic JA780916.1 CCH22602.1
    genomic L44140.1 AAA92644.1
    genomic X70082.1 CAA49687.1
    genomic X70085.1 CAA49690.1
    mRNA AB191259.1 BAD52435.1
    mRNA AB191260.1 BAD52436.1
    mRNA AB371574.1 BAG48303.1
    mRNA AB371575.1 BAG48304.1
    mRNA AB371576.1 BAG48305.1
    mRNA AB371577.1 BAG48306.1
    mRNA AB371578.1 BAG48307.1
    mRNA AB371579.1 BAG48308.1
    mRNA AB593010.1 BAJ83965.1
    mRNA AK074048.1 BAB84874.1
    mRNA AK090427.2 BAC03408.2
    mRNA AK125630.1 None
    mRNA AK300165.1 BAG61947.1
    mRNA AK304255.1 BAG65121.1
    mRNA AL050396.1 None
    mRNA AL157419.1 None
    mRNA BC014654.1 AAH14654.1
    mRNA BC028089.1 None
    mRNA BC041179.1 AAH41179.1
    mRNA BC067111.1 AAH67111.1
    mRNA BC109289.1 AAI09290.3
    mRNA BP235228.1 None
    mRNA GU727643.1 ADU87644.1
    mRNA X53416.1 CAA37495.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P21333.4 GenPept UniProtKB/Swiss-Prot:P21333
    Q2VP91 GenPept UniProtKB/TrEMBL:Q2VP91
    Q5HY54 GenPept UniProtKB/TrEMBL:Q5HY54
    Q60FE5 GenPept UniProtKB/TrEMBL:Q60FE5
    Q60FE6 GenPept UniProtKB/TrEMBL:Q60FE6
    Q6NXF2 GenPept UniProtKB/TrEMBL:Q6NXF2
    Q86TQ3 GenPept UniProtKB/TrEMBL:Q86TQ3
    Q8TES4 GenPept UniProtKB/TrEMBL:Q8TES4
    Q96C61 GenPept UniProtKB/TrEMBL:Q96C61
    Help top of page

    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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