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Aliases for FBLIM1 Gene

Aliases for FBLIM1 Gene

  • Filamin Binding LIM Protein 1 2 3 5
  • MIG2-Interacting Protein 3 4
  • Migfilin 3 4
  • FBLP-1 3 4
  • FBLP1 3 4
  • Mitogen-Inducible 2 Interacting Protein 3
  • Mitogen-Inducible 2-Interacting Protein 4
  • 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 Kindler Syndrome and Ovarian Serous Carcinoma. Among its related pathways are Cell junction organization and ERK Signaling. GO annotations related to this gene include filamin binding. An important paralog of this gene is ZYX.

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

Additional gene information for FBLIM1 Gene

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

Genomics for FBLIM1 Gene

Regulatory Elements for FBLIM1 Gene

Enhancers for FBLIM1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H015791 2 FANTOM5 Ensembl ENCODE dbSUPER 20.5 +41.3 41332 11 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 MEF2D GLIS1 RCOR2 CLCNKA FAM231A HSPB7 FBLIM1 ENSG00000237938 RPS16P1 CD24P1 RNU1-1 SPEN ZBTB17
GH01H015777 1.2 ENCODE dbSUPER 19.4 +23.7 23714 4 PKNOX1 FOXA2 ARID4B SIN3A YY1 ZNF121 ZNF766 REST PPARG KAT8 FBLIM1 SLC25A34 ENSG00000237938 SRARP ARHGEF19 CLCNKB CASP9 RPL12P14
GH01H015755 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.8 +2.7 2711 6 PKNOX1 SIN3A FEZF1 DMAP1 TCF12 GLIS2 GATA2 SMARCA4 GLIS1 ETV4 CROCC FBLIM1 CROCCP2 SLC25A34 CROCCP3 SPEN PLEKHM2 CASP9 EPHA2 RPL12P14
GH01H015947 2 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +195.0 195008 7 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF766 FOS DEK SP3 JUNB HSPB7 CLCNKA PLEKHM2 ZBTB17 SPEN ENSG00000233078 CROCC RPL22P3 FBLIM1 ENSG00000237938
GH01H015596 0.8 ENCODE dbSUPER 24.1 -159.1 -159127 0 MEF2D MCM7 MCM3 SP7 FBLIM1 CASP9 SZRD1 RPL22P3 RPS16P1 ENSG00000237938 SCARNA21B ENSG00000224621 ARHGEF19 SPEN
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FBLIM1 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for FBLIM1 Gene

Chromosome:
1
Start:
15,756,171 bp from pter
End:
15,786,594 bp from pter
Size:
30,424 bases
Orientation:
Plus strand

Genomic View for FBLIM1 Gene

Genes around FBLIM1 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for FBLIM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for FBLIM1

No data available for DME Specific Peptides for FBLIM1 Gene

Domains & Families for FBLIM1 Gene

Gene Families for FBLIM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 :
  • The N-terminal region is intrinsically disordered.
Domain:
  • The N-terminal region is intrinsically disordered.
genes like me logo Genes that share domains with FBLIM1: view

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.

Phenotypes From GWAS Catalog for FBLIM1 Gene

Gene Ontology (GO) - Molecular Function for FBLIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19828450
GO:0031005 filamin binding IDA 19074766
GO:0046872 metal ion binding IEA --
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FBLIM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FBLIM1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 2
plasma membrane 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Focal adhesion sites (3)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FBLIM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0001725 stress fiber IDA 18829455
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with FBLIM1: view

Pathways & Interactions 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:0007155 cell adhesion IEA --
GO:0008360 regulation of cell shape IEA --
GO:0016337 single organismal cell-cell adhesion IMP --
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

No data available for SIGNOR curated interactions for FBLIM1 Gene

Drugs & Compounds for FBLIM1 Gene

No Compound Related Data Available

Transcripts for FBLIM1 Gene

Unigene Clusters for FBLIM1 Gene

Filamin binding LIM protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FBLIM1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x10.9), Artery - Coronary (x7.8), and Artery - Tibial (x5.9).

Protein differential expression in normal tissues from HIPED for FBLIM1 Gene

This gene is overexpressed in Amniocyte (14.4), Bone marrow stromal cell (13.1), Gallbladder (9.5), and Uterus (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FBLIM1 Gene



Protein tissue co-expression partners for FBLIM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FBLIM1 Gene:

FBLIM1

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.

Evidence on tissue expression from TISSUES for FBLIM1 Gene

  • Lung(4.2)
  • Nervous system(4.1)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with FBLIM1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FBLIM1 Gene

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 33 34
  • 99.02 (n)
dog
(Canis familiaris)
Mammalia FBLIM1 33 34
  • 83.56 (n)
cow
(Bos Taurus)
Mammalia FBLIM1 33 34
  • 81.63 (n)
mouse
(Mus musculus)
Mammalia Fblim1 33 16 34
  • 75.63 (n)
rat
(Rattus norvegicus)
Mammalia Fblim1 33
  • 75.02 (n)
oppossum
(Monodelphis domestica)
Mammalia FBLIM1 34
  • 32 (a)
OneToOne
chicken
(Gallus gallus)
Aves FBLIM1 33 34
  • 62.79 (n)
zebrafish
(Danio rerio)
Actinopterygii fblim1 34
  • 33 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea zyx-1 34
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
OneToMany
Species where no ortholog for FBLIM1 was found in the sources mined by GeneCards:
  • 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

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
rs1000044472 -- 15,771,240(+) GCCTG(G/T)TTTTT intron-variant
rs1000082719 -- 15,754,555(+) AATGA(C/T)CCGCC upstream-variant-2KB
rs1000203333 -- 15,759,175(+) GGAGT(C/T)CCGCA intron-variant
rs1000254160 -- 15,759,396(+) GGCGA(C/T)ACCCA intron-variant
rs1000269010 -- 15,755,147(+) TTGAC(-/TCTGGAGG)TCTGG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv11n27 CNV gain 19166990
dgv151n54 CNV gain 21841781
esv3577748 CNV loss 25503493
nsv1126182 CNV deletion 24896259
nsv460594 CNV loss 19166990
nsv508925 CNV insertion 20534489
nsv524044 CNV loss 19592680
nsv527046 CNV loss 19592680
nsv545617 CNV loss 21841781
nsv545618 CNV loss 21841781

Variation tolerance for FBLIM1 Gene

Residual Variation Intolerance Score: 45.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.04; 50.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FBLIM1 Gene

Human Gene Mutation Database (HGMD)
FBLIM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FBLIM1

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

Disorders for FBLIM1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for FBLIM1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
kindler syndrome
  • hereditary acrokeratotic poikiloderma of kindler-weary
ovarian serous carcinoma
  • ovarian serous adenocarcinoma
chronic recurrent multifocal osteomyelitis
  • chronic multifocal osteomyelitis
skin atrophy
  • atrophic condition of skin
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FBLIM1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FBLIM1
genes like me logo Genes that share disorders with FBLIM1: view

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

Publications for FBLIM1 Gene

  1. 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 22 60
  2. A new member of the LIM protein family binds to filamin B and localizes at stress fibers. (PMID: 12496242) Takafuta T … Shapiro SS (The Journal of biological chemistry 2003) 2 3 4 22 60
  3. Migfilin, a molecular switch in regulation of integrin activation. (PMID: 19074766) Ithychanda SS … Qin J (The Journal of biological chemistry 2009) 3 4 22 60
  4. Structural basis of the migfilin-filamin interaction and competition with integrin beta tails. (PMID: 18829455) Lad Y … Calderwood DA (The Journal of biological chemistry 2008) 3 4 22 60
  5. Migfilin interacts with Src and contributes to cell-matrix adhesion-mediated survival signaling. (PMID: 19833732) Zhao J … Wu C (The Journal of biological chemistry 2009) 3 22 60

Products for FBLIM1 Gene

Sources for FBLIM1 Gene

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