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Aliases for FBLIM1 Gene

Aliases for FBLIM1 Gene

  • Filamin Binding LIM Protein 1 2 3
  • Migfilin 3 4 6
  • FBLP1 3 4 6
  • Mitogen-Inducible 2-Interacting Protein 3 4
  • MIG2-Interacting Protein 3 4
  • FBLP-1 3 4
  • Mitogen-Inducible 2 Interacting Protein 3
  • Filamin-Binding LIM Protein 1 3
  • Filamin-Binding LIM Protein-1 3
  • CSX-Associated LIM 3
  • CAL 3

External Ids for FBLIM1 Gene

Previous GeneCards Identifiers for FBLIM1 Gene

  • GC01P015829
  • GC01P015955
  • GC01P016083
  • GC01P014604

Summaries for FBLIM1 Gene

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 ovarian serous carcinoma. Among its related pathways are ERK Signaling and Cell junction organization. GO annotations related to this gene include filamin binding. An important paralog of this gene is AJUBA.

UniProtKB/Swiss-Prot for FBLIM1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FBLIM1 Gene

Genomics for FBLIM1 Gene

Regulatory Elements for FBLIM1 Gene

Transcription factor binding sites by QIAGEN in the FBLIM1 gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FBLIM1 Gene

Start:
15,756,340 bp from pter
End:
15,786,594 bp from pter
Size:
30,255 bases
Orientation:
Plus strand

Genomic View for FBLIM1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FBLIM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FBLIM1 Gene

Proteins for FBLIM1 Gene

  • Protein details for FBLIM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUP2-FBLI1_HUMAN
    Recommended name:
    Filamin-binding LIM protein 1
    Protein Accession:
    Q8WUP2
    Secondary Accessions:
    • B3KNY0
    • Q5VVE0
    • Q5VVE1
    • Q8IX23
    • Q96T00
    • Q9UFD6

    Protein attributes for FBLIM1 Gene

    Size:
    373 amino acids
    Molecular mass:
    40670 Da
    Quaternary structure:
    • Interacts with NKX2-5 (By similarity). Isoform 1 and isoform 3 interact with FERMT2, FLNA, FLNB and FLNC. Isoform 2 interacts with FLNB.

    Three dimensional structures from OCA and Proteopedia for FBLIM1 Gene

    Alternative splice isoforms for FBLIM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FBLIM1 Gene

Proteomics data for FBLIM1 Gene at MOPED

Post-translational modifications for FBLIM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FBLIM1 Gene

Domains for FBLIM1 Gene

Protein Domains for FBLIM1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FBLIM1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WUP2

UniProtKB/Swiss-Prot:

FBLI1_HUMAN :
  • Q8WUP2
Domain:
  • The N-terminal region is intrinsically disordered.
  • Contains 3 LIM zinc-binding domains.
genes like me logo Genes that share domains with FBLIM1: view

No data available for Gene Families for FBLIM1 Gene

Function for FBLIM1 Gene

Molecular function for FBLIM1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for FBLIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008270 zinc ion binding IEA --
GO:0031005 filamin binding IDA 19074766
genes like me logo Genes that share ontologies with FBLIM1: view
genes like me logo Genes that share phenotypes with FBLIM1: view

Animal Models for FBLIM1 Gene

MGI Knock Outs for FBLIM1:

Animal Model Products

CRISPR Products

miRNA for FBLIM1 Gene

miRTarBase miRNAs that target FBLIM1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for FBLIM1 Gene

Localization for FBLIM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FBLIM1 Gene

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
Jensen Localization Image for FBLIM1 Gene COMPARTMENTS Subcellular localization image for FBLIM1 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for FBLIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IDA 18829455
GO:0005829 cytosol TAS --
GO:0005925 focal adhesion IDA 21423176
GO:0005938 cell cortex IEA --
genes like me logo Genes that share ontologies with FBLIM1: view

Pathways for FBLIM1 Gene

genes like me logo Genes that share pathways with FBLIM1: view

Pathways by source for FBLIM1 Gene

1 Qiagen pathway for FBLIM1 Gene

Gene Ontology (GO) - Biological Process for FBLIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008360 regulation of cell shape IEA --
GO:0016337 single organismal cell-cell adhesion IMP 19074766
GO:0033623 regulation of integrin activation IMP 19074766
GO:0034329 cell junction assembly TAS --
genes like me logo Genes that share ontologies with FBLIM1: view

Transcripts for FBLIM1 Gene

Unigene Clusters for FBLIM1 Gene

Filamin binding LIM protein 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FBLIM1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FBLIM1 Gene

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: - - - - - -
SP6: - - - - - -
SP7: - - - -
SP8: - - -
SP9: - - - -
SP10: -
SP11:
SP12:
SP13: - - - - -
SP14: - - - -
SP15: - -
SP16: -
SP17:

ExUns: 12b ^ 13a · 13b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for FBLIM1 Gene

GeneLoc Exon Structure for
FBLIM1
ECgene alternative splicing isoforms for
FBLIM1

Expression for FBLIM1 Gene

mRNA expression in normal human tissues for FBLIM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FBLIM1 Gene

This gene is overexpressed in Artery - Aorta (10.9), Artery - Coronary (7.8), and Artery - Tibial (5.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for FBLIM1 Gene

SOURCE GeneReport for Unigene cluster for FBLIM1 Gene Hs.530101

mRNA Expression by UniProt/SwissProt for FBLIM1 Gene

Q8WUP2-FBLI1_HUMAN
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.
genes like me logo Genes that share expressions with FBLIM1: view

In Situ Assay Products

Orthologs for FBLIM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FBLIM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FBLIM1 35
  • 99.02 (n)
  • 99.2 (a)
FBLIM1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FBLIM1 35
  • 81.63 (n)
  • 79.03 (a)
FBLIM1 36
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FBLIM1 35
  • 83.56 (n)
  • 82.29 (a)
FBLIM1 36
  • 67 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fblim1 35
  • 75.63 (n)
  • 74.18 (a)
Fblim1 16
Fblim1 36
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FBLIM1 36
  • 32 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fblim1 35
  • 75.02 (n)
  • 72.27 (a)
chicken
(Gallus gallus)
Aves FBLIM1 35
  • 62.79 (n)
  • 54.09 (a)
FBLIM1 36
  • 37 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii fblim1 36
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea zyx-1 36
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 20 (a)
OneToMany
Species with no ortholog for FBLIM1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for FBLIM1 Gene

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

Paralogs for FBLIM1 Gene

Paralogs for FBLIM1 Gene

Selected SIMAP similar genes for FBLIM1 Gene using alignment to 10 proteins:

Pseudogenes.org Pseudogenes for FBLIM1 Gene

genes like me logo Genes that share paralogs with FBLIM1: view

Variants for FBLIM1 Gene

Sequence variations from dbSNP and Humsavar for FBLIM1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs2546 -- 15,786,542(-) AAAAC(A/G)TAACT utr-variant-3-prime
rs7663 -- 15,786,300(+) CGTGC(A/G)CTGGG utr-variant-3-prime
rs867321 -- 15,760,669(-) CTTGG(A/G)GCAGA intron-variant
rs904912 -- 15,767,065(-) AAATT(A/T)AAAAA intron-variant
rs938295 -- 15,760,765(+) GTTCC(C/T)ACTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FBLIM1 Gene

Variant ID Type Subtype PubMed ID
dgv171n71 CNV Gain 21882294
nsv524044 CNV Loss 19592680
dgv11n27 CNV Gain 19166990
nsv508925 CNV Insertion 20534489
dgv173n71 CNV Loss 21882294
nsv871462 CNV Gain+Loss 21882294
nsv871550 CNV Loss 21882294
nsv870503 CNV Loss 21882294
nsv460594 CNV Loss 19166990
nsv527046 CNV Loss 19592680

Relevant External Links for FBLIM1 Gene

HapMap Linkage Disequilibrium report
FBLIM1
Human Gene Mutation Database (HGMD)
FBLIM1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBLIM1 Gene

Disorders for FBLIM1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for FBLIM1 Gene including...

Search for FBLIM1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for FBLIM1 Gene

genes like me logo Genes that share disorders with FBLIM1: view

No data available for UniProtKB/Swiss-Prot for FBLIM1 Gene

Publications for FBLIM1 Gene

  1. A new member of the LIM protein family binds to filamin B and localizes at stress fibers. (PMID: 12496242) Takafuta T. … Shapiro S.S. (J. Biol. Chem. 2003) 2 3 4 23
  2. Migfilin and Mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation. (PMID: 12679033) Tu Y. … Wu C. (Cell 2003) 2 3 4 23
  3. Migfilin, a molecular switch in regulation of integrin activation. (PMID: 19074766) Ithychanda S.S. … Qin J. (J. Biol. Chem. 2009) 3 4 23
  4. Structural basis of the migfilin-filamin interaction and competition with integrin beta tails. (PMID: 18829455) Lad Y. … Calderwood D.A. (J. Biol. Chem. 2008) 3 4 23
  5. Migfilin interacts with Src and contributes to cell-matrix adhesion-mediated survival signaling. (PMID: 19833732) Zhao J. … Wu C. (J. Biol. Chem. 2009) 3 23

Products for FBLIM1 Gene

Sources for FBLIM1 Gene

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