Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



FBLIM1 Gene

protein-coding   GIFtS: 59
GCID: GC01P016083

Filamin Binding LIM Protein 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Filamin Binding LIM Protein 11 2     Filamin-Binding LIM Protein 12
FBLP12 3 5     Filamin-Binding LIM Protein-12
Mitogen-Inducible 2-Interacting Protein2 3     migfilin2
FBLP-12 3     Mitogen-Inducible 2 Interacting Protein2
MIG2-Interacting Protein2 3     Migfilin3
CAL2     MIGFILIN5
CSX-Associated LIM2     

External Ids:    HGNC: 246861   Entrez Gene: 547512   Ensembl: ENSG000001624587   OMIM: 6077475   UniProtKB: Q8WUP23   

Export aliases for FBLIM1 gene to outside databases

Previous GC identifers: GC01P015829 GC01P015955 GC01P014604


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for FBLIM1 Gene:
This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and,
multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures
to the actin cytoskeleton. This protein may be involved in the assembly and stabilization of actin-filaments and
likely plays a role in modulating cell adhesion, cell morphology and cell motility. This protein also localizes
to the nucleus and may affect cardiomyocyte differentiation after binding with the CSX/NKX2-5 transcription
factor. Alternative splicing results in multiple transcript variants encoding different isoforms. (provided by
RefSeq, Jul 2008)

GeneCards Summary for FBLIM1 Gene:
FBLIM1 (filamin binding LIM protein 1) is a protein-coding gene. Diseases associated with FBLIM1 include skin atrophy, and kindler syndrome. GO annotations related to this gene include filamin binding. An important paralog of this gene is LPP.

UniProtKB/Swiss-Prot: FBLI1_HUMAN, Q8WUP2
Function: Serves as an anchoring site for cell-ECM adhesion proteins and filamin-containing actin filaments. Is
implicated in cell shape modulation (spreading) and motility. May participate in the regulation of
filamin-mediated cross-linking and stabilization of actin filaments. May also regulate the assembly of
filamin-containing signaling complexes that control actin assembly. Promotes dissociation of FLNA from ITGB3 and
ITGB7. Promotes activation of integrins and regulates integrin-mediated cell-cell adhesion

Gene Wiki entry for FBLIM1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the FBLIM1 gene promoter:
         Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBLIM1 promoter sequence
   Search Chromatin IP Primers for FBLIM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBLIM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.21   Ensembl cytogenetic band:  1p36.21   HGNC cytogenetic band: 1p36.13

FBLIM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBLIM1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P016083:  view genomic region     (about GC identifiers)

Start:
16,083,102 bp from pter      End:
16,113,089 bp from pter
Size:
29,988 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: FBLI1_HUMAN, Q8WUP2 (See protein sequence)
Recommended Name: Filamin-binding LIM protein 1  
Size: 373 amino acids; 40670 Da
Subunit: Interacts with NKX2-5 (By similarity). Isoform 1 and isoform 3 interact with FERMT2, FLNA, FLNB and FLNC.
Isoform 2 interacts with FLNB
2 PDB 3D structures from and Proteopedia for FBLIM1:
2K9U (3D)        2W0P (3D)    
Secondary accessions: B3KNY0 Q5VVE0 Q5VVE1 Q8IX23 Q96T00 Q9UFD6
Alternative splicing: 3 isoforms:  Q8WUP2-1   Q8WUP2-2   Q8WUP2-3   (May be due to exon skipping)

Explore the universe of human proteins at neXtProt for FBLIM1: NX_Q8WUP2

Explore proteomics data for FBLIM1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See FBLIM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001019386.1  NP_001019387.1  NP_060026.2  

    ENSEMBL proteins: 
     ENSP00000422862   ENSP00000423471   ENSP00000421885   ENSP00000387595   ENSP00000364926  
     ENSP00000421764   ENSP00000422075   ENSP00000364921   ENSP00000427052   ENSP00000424920  
     ENSP00000402401   ENSP00000416387   ENSP00000364920   ENSP00000383584  
    Reactome Protein details: Q8WUP2

    FBLIM1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for FBLIM1
    OriGene Protein Over-expression Lysate for FBLIM1
    OriGene MassSpec for FBLIM1
    OriGene Custom Protein Services for FBLIM1
    GenScript Custom Purified and Recombinant Proteins Services for FBLIM1
    Novus Biologicals FBLIM1 Proteins
    Novus Biologicals FBLIM1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for FBLIM1
    Cloud-Clone Corp. Proteins for FBLIM1

    FBLIM1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of FBLIM1
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for FBLIM1
    Novus Biologicals FBLIM1 Antibodies
    Abcam antibodies for FBLIM1
    Cloud-Clone Corp. Antibodies for FBLIM1
    ThermoFisher Antibodies for FBLIM1
    LSBio Antibodies in human, mouse, rat for FBLIM1

    FBLIM1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for FBLIM1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for FBLIM1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for FBLIM1
    Cloud-Clone Corp. CLIAs for FBLIM1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    1 InterPro protein domain:
     IPR001781 Znf_LIM

    Graphical View of Domain Structure for InterPro Entry Q8WUP2

    ProtoNet protein and cluster: Q8WUP2

    1 Blocks protein domain: IPB001781 Zn-binding protein

    UniProtKB/Swiss-Prot: FBLI1_HUMAN, Q8WUP2
    Domain: The N-terminal region is intrinsically disordered
    Similarity: Contains 3 LIM zinc-binding domains


    FBLIM1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FBLI1_HUMAN, Q8WUP2
    Function: Serves as an anchoring site for cell-ECM adhesion proteins and filamin-containing actin filaments. Is
    implicated in cell shape modulation (spreading) and motility. May participate in the regulation of
    filamin-mediated cross-linking and stabilization of actin filaments. May also regulate the assembly of
    filamin-containing signaling complexes that control actin assembly. Promotes dissociation of FLNA from ITGB3 and
    ITGB7. Promotes activation of integrins and regulates integrin-mediated cell-cell adhesion

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008270zinc ion binding IEA--
    GO:0031005filamin binding IDA19074766
         
    FBLIM1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for FBLIM1:
     Increased G2M DNA content  Increased gamma-H2AX phosphory 

         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Fblim1):
     cellular  hematopoietic system  immune system  no phenotypic analysis  normal 
     skeleton 

    FBLIM1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for FBLIM1: Fblim1tm1.1Chen Fblim1tm1.2Ref

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FBLIM1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FBLIM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FBLIM1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FBLIM1

    miRNA
    Products:
        
    miRTarBase miRNAs that target FBLIM1:
    hsa-mir-124-3p (MIRT022980), hsa-mir-335-5p (MIRT018620)

    Block miRNA regulation of human, mouse, rat FBLIM1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate FBLIM1:
    hsa-miR-595 hsa-miR-3614-3p hsa-miR-3202 hsa-miR-2278
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): FBLIM1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for FBLIM1
    Predesigned siRNA for gene silencing in human, mouse, rat FBLIM1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for FBLIM1

    Clone
    Products:
         
    OriGene clones in human, mouse for FBLIM1 (see all 16)
    OriGene ORF clones in mouse, rat for FBLIM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): FBLIM1 (NM_001024215)
    Sino Biological Human cDNA Clone for FBLIM1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FBLIM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBLIM1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for FBLIM1
    Browse ESI BIO Cell Lines and PureStem Progenitors for FBLIM1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBLIM1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    FBLI1_HUMAN, Q8WUP2: Cytoplasm, cell cortex. Cell junction, focal adhesion. Cytoplasm, cytoskeleton.
    Note=Associated with actin stress fiber at cell-ECM focal adhesion sites. Isoform 1 and isoform 3 are recruited
    and localized at actin stress fibers and clustered at cell-EMC adhesion sites through interaction with FERMT2.
    Isoform 2 is localized at actin stress fibers
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus3
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IDA18829455
    GO:0005829cytosol TAS--
    GO:0005925focal adhesion IEA--
    GO:0005938cell cortex IEA--
    GO:0030054cell junction ----

    FBLIM1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for FBLIM1 About    
    See pathways by source

    SuperPathContained pathways About
    1Cell junction organization
    Cell junction organization0.70
    Cell-extracellular matrix interactions0.00
    Cell-Cell communication0.64

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for FBLIM1
        ILK Signaling


    1 Reactome Pathway for FBLIM1
        Cell-extracellular matrix interactions



    FBLIM1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FBLIM1
    Interactions:

        Search GeneGlobe Interaction Network for FBLIM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for FBLIM1 (Q8WUP23 ENSP000004163874) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FLNBO753693, ENSP000002959564I2D: score=2 STRING: ENSP00000295956
    FERMT2Q96AC13, ENSP000003428584I2D: score=2 STRING: ENSP00000342858
    FLNAP213333, ENSP000003588664I2D: score=2 STRING: ENSP00000358866
    PXNP490233I2D: score=1 
    FLNCENSP000003271454STRING: ENSP00000327145
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008360regulation of cell shape IEA--
    GO:0016337cell-cell adhesion IMP19074766
    GO:0033623regulation of integrin activation IMP19074766
    GO:0034329cell junction assembly TAS--

    FBLIM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for FBLIM1 (FBLI1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for FBLIM1 gene (3 alternative transcripts): 
    NM_001024215.1  NM_001024216.1  NM_017556.2  

    Unigene Cluster for FBLIM1:

    Filamin binding LIM protein 1
    Hs.530101  [show with all ESTs]
    Unigene Representative Sequence: NM_017556
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000496928 ENST00000508310 ENST00000510393 ENST00000430076 ENST00000375771(uc001axd.1)
    ENST00000510929 ENST00000502638 ENST00000375766(uc001axe.1) ENST00000483633
    ENST00000502739 ENST00000431771 ENST00000441801(uc001axg.1) ENST00000332305
    ENST00000514156 ENST00000509138 ENST00000400773(uc001axh.1 uc001axi.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat FBLIM1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate FBLIM1:
    hsa-miR-595 hsa-miR-3614-3p hsa-miR-3202 hsa-miR-2278
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): FBLIM1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for FBLIM1
    Predesigned siRNA for gene silencing in human, mouse, rat FBLIM1
    Clone
    Products:
         
    OriGene clones in human, mouse for FBLIM1 (see all 16)
    OriGene ORF clones in mouse, rat for FBLIM1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): FBLIM1 (NM_001024215)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for FBLIM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBLIM1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for FBLIM1
    OriGene qSTAR qPCR primer pairs in human, mouse for FBLIM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FBLIM1
      QuantiTect SYBR Green Assays in human, mouse, rat FBLIM1
      QuantiFast Probe-based Assays in human, mouse, rat FBLIM1

    Additional mRNA sequence: 

    AF459643.1 AK027444.1 AK055259.1 AK130732.1 AL133035.1 AY180161.1 BC019895.1 

    14 DOTS entries:

    DT.97838125  DT.436153  DT.100839005  DT.101981007  DT.121450044  DT.97848825  DT.121450051  DT.100787720 
    DT.95372266  DT.102831127  DT.102831129  DT.121450060  DT.121450041  DT.91741673 

    Selected AceView cDNA sequences (see all 165):

    BU191604 BQ671070 AI972796 BM713018 BF438298 BQ674645 BM721201 BI334171 
    BQ082420 BG747555 AW614039 AW179068 AI638392 AW083637 BM822883 BX096040 
    CB141474 BM719927 CR604326 BU633652 BM726731 BM837809 AW243569 CB215706 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for FBLIM1 (see all 17)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a ·
    SP1:                                                                                                                                                        -   
    SP2:              -     -           -     -     -     -                                                                                                         
    SP3:              -     -                 -     -     -                                                                                                         
    SP4:              -     -                 -     -     -                                                                                                         
    SP5:              -     -                 -     -     -           -                                                                                             

    ExUns: 12b ^ 13a · 13b
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for FBLIM1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    FBLIM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    FBLIM1 Expression
    About this image


    FBLIM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Bone (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Cartilage (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Colon (Gastrointestinal Tract)
     
     Larynx (Respiratory System)
    FBLIM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    FBLIM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.530101

    UniProtKB/Swiss-Prot: FBLI1_HUMAN, Q8WUP2
    Tissue specificity: Isoform 1 and isoform 3 are expressed in heart, kidney, lung, pancreas, placenta and
    platelets. Isoform 2 is expressed in brain, heart, kidney, lung, pancreas, placenta, skeletal muscle and
    platelets

        Custom PCR Arrays for FBLIM1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for FBLIM1
    OriGene qSTAR qPCR primer pairs in human, mouse for FBLIM1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FBLIM1
    QuantiTect SYBR Green Assays in human, mouse, rat FBLIM1
    QuantiFast Probe-based Assays in human, mouse, rat FBLIM1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBLIM1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for FBLIM1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fblim11 , 5 filamin binding LIM protein 11, 5 75.63(n)1
    74.18(a)1
      4 (74.64 cM)5
    742021  NM_001163256.11  NP_001156728.11 
     1415760625 
    chicken
    (Gallus gallus)
    Aves FBLIM11 filamin binding LIM protein 1 62.79(n)
    54.09(a)
      419458  XM_417617.4  XP_417617.3 
    zebrafish
    (Danio rerio)
    Actinopterygii fblim16
    filamin binding LIM protein 1
    33(a)
    1 ↔ 1
    22(136437-155404) ENSDARG00000071558
    worm
    (Caenorhabditis elegans)
    Secernentea zyx-16
    Protein ZYX-1, isoform e
    12(a)
    1 → many
    II(13056814-13071530) WBGene00006999


    ENSEMBL Gene Tree for FBLIM1 (if available)
    TreeFam Gene Tree for FBLIM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for FBLIM1 gene
    LPP2  TRIP62  ABLIM32  WTIP2  AJUBA2  DMTN2  ZYX2  ABLIM22  
    LIMD12  ABLIM12  
    5 SIMAP similar genes for FBLIM1 using alignment to 10 protein entries:     FBLI1_HUMAN (see all proteins):
    LHX4    LHx4    LHX8    CRIP1    ZYX

    FBLIM1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for FBLIM1
    PGOHUM00000242661 PGOHUM00000241531


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for FBLIM1 (see all 612)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1396079881,2
    --16083333(+) CCCCAA/CATCAA 1 -- us2k10--------
    rs767947571,2
    C,F--16083593(+) GTTTTG/CGGGGG 1 -- us2k13Minor allele frequency- C:0.05NA 124
    rs1448133801,2
    --16083594(+) TTTTGC/GGGGGC 1 -- us2k10--------
    rs1458330821,2
    --16083642(+) AGCAGA/GGACTC 1 -- us2k10--------
    rs1870708041,2
    --16083859(+) TTGACC/TGTGAA 1 -- us2k10--------
    rs1485807871,2
    --16083860(+) TGACCA/GTGAAC 1 -- us2k10--------
    rs716317501,2
    C,F--16083898(+) CTCTTG/CTGGGA 1 -- us2k17Minor allele frequency- C:0.17NA WA EA 366
    rs756448731,2
    C--16084213(+) AAGCC-/TCAGCC 1 -- us2k10--------
    rs1895196541,2
    --16084265(+) TCAGAC/TCCAGA 1 -- us2k10--------
    rs1429615711,2
    --16084304(+) TCCAGA/GGACCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FBLIM1 (16083102 - 16113089 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for FBLIM1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508925CNV Insertion20534489
    nsv524044CNV Loss19592680
    nsv460594CNV Loss19166990
    nsv871550CNV Loss21882294
    nsv870503CNV Loss21882294
    dgv173n71CNV Loss21882294
    nsv527046CNV Loss19592680
    dgv11n27CNV Gain19166990
    dgv171n71CNV Gain21882294
    nsv871462CNV Gain+Loss21882294

    Human Gene Mutation Database (HGMD): FBLIM1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing FBLIM1
    DNA2.0 Custom Variant and Variant Library Synthesis for FBLIM1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 607747    OMIM disorders: --

    12 diseases for FBLIM1:    
    About MalaCards
    skin atrophy    kindler syndrome    lipoma    leiomyosarcoma
    epidermolysis bullosa    chondrosarcoma    esophageal cancer    periodontitis
    esophagitis    endotheliitis    atherosclerosis    breast cancer

    1 disease from the University of Copenhagen DISEASES database for FBLIM1:
    Skin atrophy

    FBLIM1 for disorders           About GeneDecksing


    Export disorders for FBLIM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for FBLIM1 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with FBLIM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Migfilin and Mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation. (PubMed id 12679033)1, 2, 3, 9 Tu Y.... Wu C. (Cell 2003)
    2. A new member of the LIM protein family binds to filamin B and localizes at stress fibers. (PubMed id 12496242)1, 2, 3, 9 Takafuta T.... Shapiro S.S. (J. Biol. Chem. 2003)
    3. Structural basis of the migfilin-filamin interaction and competition with integrin beta tails. (PubMed id 18829455)1, 2, 9 Lad Y.... Calderwood D.A. (J. Biol. Chem. 2008)
    4. Migfilin, a molecular switch in regulation of integrin activation. (PubMed id 19074766)1, 2, 9 Ithychanda S.S.... Qin J. (J. Biol. Chem. 2009)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Physical and functional association of migfilin with cell-cell adhesions. (PubMed id 15671069)1, 9 Gkretsi V....Wu C. (J. Cell. Sci. 2005)
    9. Migfilin interacts with vasodilator-stimulated phosphoprotein (VASP) and regulates VASP localization to cell-matrix adhesions and migration. (PubMed id 16531412)1, 9 Zhang Y....Wu C. (J. Biol. Chem. 2006)
    10. Migfilin interacts with Src and contributes to cell-matrix adhesion-mediated survival signaling. (PubMed id 19833732)1, 9 Zhao J....Wu C. (J. Biol. Chem. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 54751 HGNC: 24686 AceView: FBLP-1 Ensembl:ENSG00000162458 euGenes: HUgn54751
    ECgene: FBLIM1 H-InvDB: FBLIM1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for FBLIM1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for FBLIM1 gene:
    Search GeneIP for patents involving FBLIM1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Small Molecules at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of FBLIM1
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for FBLIM1  
     OriGene qPCR primer pairs and template standards for FBLIM1   OriGene Protein Over-expression Lysate for FBLIM1  
     OriGene MassSpec something-or-other for FBLIM1   OriGene clones in human, mouse for FBLIM1  
     OriGene qSTAR qPCR primer pairs in human, mouse for FBLIM1   OriGene Purified Protein for FBLIM1  
     OriGene ORF clones in mouse, rat for FBLIM1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for FBLIM1   OriGene Custom Protein Services for FBLIM1  

     
     
     Block miRNA regulation of human, mouse, rat FBLIM1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing FBLIM1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FBLIM1 Predesigned siRNA for gene silencing in human, mouse, rat FBLIM1
     QuantiFast Probe-based Assays in human, mouse, rat FBLIM1 QuantiTect SYBR Green Assays in human, mouse, rat FBLIM1
     Custom PCR Arrays for FBLIM1 Search Chromatin IP Primers for FBLIM1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FBLIM1  Search GeneGlobe Interaction Network for FBLIM1
     Regulatory tfbs in FBLIM1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for FBLIM1 GenScript cDNA clones with any tag delivered in your preferred vector for FBLIM1
     GenScript Custom Assay Services for FBLIM1 GenScript Custom overexpressing Cell Line Services for FBLIM1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for FBLIM1 (FBLI1)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for FBLIM1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     FBLIM1 antibodies
     FBLIM1 proteins
     FBLIM1 lysates
     Antibodies for FBLIM1
     See all of Abcam's Antibodies, Kits and Proteins for FBLIM1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for FBLIM1
     Proteins for FBLIM1
     Antibodies for FBLIM1
     ELISAs for FBLIM1
     CLIAs for FBLIM1



     Browse ESI BIO Cell Lines and PureStem Progenitors for FBLIM1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBLIM1
     SwitchGear 3'UTR luciferase reporter plasmids for FBLIM1
     SwitchGear Promoter luciferase reporter plasmids for FBLIM1
     ThermoFisher Antibodies for FBLIM1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FBLIM1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FBLIM1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for FBLIM1
     LSBio Antibodies in human, mouse, rat for FBLIM1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      FBLIM1 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4