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    Flna filamin, alpha [ Mus musculus (house mouse) ]

    Gene ID: 192176, updated on 20-Apr-2019

    Summary

    Official Symbol
    Flnaprovided by MGI
    Official Full Name
    filamin, alphaprovided by MGI
    Primary source
    MGI:MGI:95556
    See related
    Ensembl:ENSMUSG00000031328
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Fln1; Dilp2; ABP-280; GENA 379; filamin-1; F730004A14Rik
    Expression
    Broad expression in bladder adult (RPKM 809.2), ovary adult (RPKM 279.4) and 17 other tissues See more
    Orthologs

    Genomic context

    See Flna in Genome Data Viewer
    Location:
    X A7.3; X 37.89 cM
    Exon count:
    49
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) X NC_000086.7 (74223461..74249852, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (71468800..71491873, complement)

    Chromosome X - NC_000086.7Genomic Context describing neighboring genes Neighboring gene ribosomal protein L3, pseudogene 2 Neighboring gene transketolase-like 1 Neighboring gene eukaryotic translation initiation factor 1 pseudogene Neighboring gene emerin Neighboring gene small nucleolar RNA, H/ACA box 70 Neighboring gene ribosomal protein L10

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    Fc-gamma receptor I complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    G protein-coupled receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Rac GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Ral GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Rho GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    SMAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    actin binding TAS
    Traceable Author Statement
    more info
    PubMed 
    actin filament binding ISO
    Inferred from Sequence Orthology
    more info
     
    ion channel binding ISO
    Inferred from Sequence Orthology
    more info
     
    kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    mu-type opioid receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    potassium channel regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    potassium channel regulator activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein kinase C binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    actin crosslink formation ISO
    Inferred from Sequence Orthology
    more info
     
    actin cytoskeleton organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    actin cytoskeleton reorganization ISO
    Inferred from Sequence Orthology
    more info
     
    adenylate cyclase-inhibiting dopamine receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    blood vessel remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    cell-cell junction organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasmic sequestering of protein ISO
    Inferred from Sequence Orthology
    more info
     
    early endosome to late endosome transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epithelial to mesenchymal transition IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    establishment of Sertoli cell barrier ISO
    Inferred from Sequence Orthology
    more info
     
    establishment of protein localization ISO
    Inferred from Sequence Orthology
    more info
     
    formation of radial glial scaffolds ISO
    Inferred from Sequence Orthology
    more info
     
    heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mRNA transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    mitotic spindle assembly ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    negative regulation of DNA-binding transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of neuron projection development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of protein catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of transcription by RNA polymerase I ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of actin filament bundle assembly ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of integrin-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of neural precursor cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of neuron migration ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of potassium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of potassium ion transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of protein import into nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of substrate adhesion-dependent cell spreading ISO
    Inferred from Sequence Orthology
    more info
     
    protein localization to bicellular tight junction ISO
    Inferred from Sequence Orthology
    more info
     
    protein localization to cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    protein stabilization ISO
    Inferred from Sequence Orthology
    more info
     
    receptor clustering ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of actin filament bundle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of membrane repolarization during atrial cardiac muscle cell action potential IC
    Inferred by Curator
    more info
    PubMed 
    regulation of membrane repolarization during cardiac muscle cell action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    semaphorin-plexin signaling pathway IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    semaphorin-plexin signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    semaphorin-plexin signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    synapse organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synapse organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    wound healing, spreading of cells ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    Myb complex ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    Z disc IDA
    Inferred from Direct Assay
    more info
    PubMed 
    actin cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    actin filament ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with actin filament ISO
    Inferred from Sequence Orthology
    more info
     
    actin filament bundle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    brush border IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell cortex ISO
    Inferred from Sequence Orthology
    more info
     
    cell-cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    cortical cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    dendritic shaft ISO
    Inferred from Sequence Orthology
    more info
     
    colocalizes_with filamentous actin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with filamentous actin ISO
    Inferred from Sequence Orthology
    more info
     
    glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    growth cone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    postsynapse ISO
    Inferred from Sequence Orthology
    more info
     
    trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    filamin-A
    Names
    actin-binding protein 280
    dilated pupils 2
    endothelial actin-binding protein
    non-muscle filamin

    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.

    mRNA and Protein(s)

    1. NM_001290421.1NP_001277350.1  filamin-A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains multiple differences compared to variant 1, including initiation of translation at a downstream in-frame start codon. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AL807376
      Conserved Domains (2) summary
      smart00557
      Location:13881477
      IG_FLMN; Filamin-type immunoglobulin domains
      pfam00630
      Location:12071290
      Filamin; Filamin/ABP280 repeat
    2. NM_010227.3NP_034357.2  filamin-A isoform 1

      See identical proteins and their annotated locations for NP_034357.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL807376
      Consensus CDS
      CCDS41018.1
      UniProtKB/TrEMBL
      B7FAU9
      Related
      ENSMUSP00000098997.2, ENSMUST00000101454.8
      Conserved Domains (4) summary
      smart00033
      Location:172264
      CH; Calponin homology domain
      smart00557
      Location:20392128
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:44148
      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 ...
      pfam00630
      Location:18581941
      Filamin; Filamin/ABP280 repeat

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000086.7 Reference GRCm38.p4 C57BL/6J

      Range
      74223461..74249852 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011247549.2XP_011245851.1  filamin-A isoform X2

      See identical proteins and their annotated locations for XP_011245851.1

      UniProtKB/TrEMBL
      B7FAU9
      Related
      ENSMUSP00000109938.1, ENSMUST00000114299.7
      Conserved Domains (4) summary
      smart00033
      Location:172264
      CH; Calponin homology domain
      smart00557
      Location:20392128
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:44148
      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 ...
      pfam00630
      Location:18581941
      Filamin; Filamin/ABP280 repeat
    2. XM_006527911.3XP_006527974.1  filamin-A isoform X1

      See identical proteins and their annotated locations for XP_006527974.1

      UniProtKB/Swiss-Prot
      Q8BTM8
      Related
      ENSMUSP00000033699.6, ENSMUST00000033699.12
      Conserved Domains (4) summary
      smart00033
      Location:172264
      CH; Calponin homology domain
      smart00557
      Location:20472136
      IG_FLMN; Filamin-type immunoglobulin domains
      cd00014
      Location:44148
      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 ...
      pfam00630
      Location:18661949
      Filamin; Filamin/ABP280 repeat
    3. XM_017318433.1XP_017173922.1  filamin-A isoform X3

      Conserved Domains (2) summary
      smart00557
      Location:13881477
      IG_FLMN; Filamin-type immunoglobulin domains
      pfam00630
      Location:12071290
      Filamin; Filamin/ABP280 repeat

    RNA

    1. XR_001782741.1 RNA Sequence

      Related
      ENSMUST00000144429.7
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