Aliases for FBLIM1 Gene
Aliases for FBLIM1 Gene
External Ids for FBLIM1 Gene
- HGNC: 24686
- Entrez Gene: 54751
- Ensembl: ENSG00000162458
- OMIM: 607747
- UniProtKB: Q8WUP2
Previous GeneCards Identifiers for FBLIM1 Gene
- GC01P015829
- GC01P015955
- GC01P016083
- GC01P014604
Summaries 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.
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
- 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:
Regulatory Element Products
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:
-
- 1p36.21 by Ensembl
- 1p36.21 by Entrez Gene
- 1p36.21 by HGNC
FBLIM1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for FBLIM1 Gene
Post-translational modifications for FBLIM1 Gene
Other Protein References for FBLIM1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- NP_001019386.1
- NP_001019387.1
- NP_001337080.1
- NP_060026.2
- XP_005245957.1
- XP_005245958.1
- XP_005245959.1
- XP_005245960.1
- XP_005245966.1
- XP_006710767.1
- XP_006710768.1
- XP_011539918.1
- XP_011539919.1
- XP_011539920.1
- XP_016857008.1
- XP_016857009.1
- XP_016857010.1
- XP_016857011.1
- XP_016857012.1
- XP_016857013.1
- XP_016857014.1
- XP_016857015.1
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for FBLIM1
-
Custom Antibody ServicesOriGene Antibodies for FBLIM1
- Novus Biologicals Antibodies for FBLIM1
- Invitrogen Antibodies for FBLIM1
- antibodies-online Antibodies for FBLIM1: See all 39
- GeneTex FBLIM1 antibody for FBLIM1
-
Santa Cruz Biotechnology (SCBT) Antibodies for FBLIM1
Protein Products
-
OriGene Purified Proteins for FBLIM1
- Search Origene for MassSpec and Protein Over-expression Lysates for FBLIM1
- Origene Custom Protein Services for FBLIM1
- ProSpec Recombinant Proteins for FBLIM1
- antibodies-online Proteins for FBLIM1: See all 7
- Search antibodies-online for peptides
- Search GeneTex for Proteins for FBLIM1
Assay Products
- antibodies-online Kits for FBLIM1: See all 7
No data available for DME Specific Peptides for FBLIM1 Gene
Domains & Families for FBLIM1 Gene
Gene Families for FBLIM1 Gene
Protein Domains for FBLIM1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FBLIM1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8WUP2- Domain:
-
- The N-terminal region is intrinsically disordered.
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 19828450 |
| GO:0008270 | zinc ion binding | IEA | -- |
| GO:0031005 | filamin binding | IDA | 19074766 |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for FBLIM1 Gene
- MGI mutant phenotypes for FBLIM1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for FBLIM1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for FBLIM1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FBLIM1 gene
- Search ViGene Biosciences for FBLIM1
CRISPR Products
-
OriGene CRISPR knockouts for FBLIM1
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBLIM1
- GenScript: Design CRISPR guide RNA sequences for FBLIM1
miRNA for FBLIM1 Gene
- miRTarBase miRNAs that target FBLIM1
-
- hsa-mir-335-5p (MIRT018620)
- hsa-mir-124-3p (MIRT022980)
- hsa-mir-4443 (MIRT476913)
- hsa-mir-19b-3p (MIRT476914)
- hsa-mir-19a-3p (MIRT476915)
- hsa-mir-24-3p (MIRT476916)
- hsa-mir-650 (MIRT476917)
- hsa-mir-3612 (MIRT476918)
- hsa-mir-4696 (MIRT476919)
- hsa-mir-2467-5p (MIRT476920)
- hsa-mir-1252-5p (MIRT476921)
- hsa-mir-136-5p (MIRT476922)
- hsa-mir-4802-5p (MIRT476923)
- hsa-mir-648 (MIRT476924)
- hsa-mir-2278 (MIRT476925)
- hsa-mir-595 (MIRT476926)
- hsa-mir-651-3p (MIRT476927)
- hsa-mir-4446-5p (MIRT645383)
- hsa-mir-5006-3p (MIRT645384)
- hsa-mir-4755-5p (MIRT645385)
- hsa-mir-670-5p (MIRT645386)
- hsa-mir-615-5p (MIRT645387)
- hsa-mir-6738-5p (MIRT645388)
- hsa-mir-5194 (MIRT645389)
- hsa-mir-1914-3p (MIRT645390)
- hsa-mir-6791-5p (MIRT645391)
- hsa-mir-4308 (MIRT645392)
- hsa-mir-4292 (MIRT645393)
- hsa-mir-361-3p (MIRT645394)
- hsa-mir-208b-5p (MIRT645395)
- hsa-mir-208a-5p (MIRT645396)
- hsa-mir-6878-3p (MIRT678314)
- hsa-mir-640 (MIRT678315)
- hsa-mir-203b-3p (MIRT678316)
- hsa-mir-7158-3p (MIRT678317)
- hsa-mir-378a-5p (MIRT678318)
- hsa-mir-6744-3p (MIRT678319)
- hsa-mir-4757-5p (MIRT678320)
- hsa-mir-6131 (MIRT678321)
- hsa-mir-6821-3p (MIRT678322)
- hsa-mir-6790-3p (MIRT678323)
- hsa-mir-4680-5p (MIRT678324)
- hsa-mir-4635 (MIRT678325)
- hsa-mir-3663-5p (MIRT678326)
- hsa-mir-3653-5p (MIRT678327)
- hsa-mir-212-5p (MIRT678328)
- hsa-mir-1224-3p (MIRT678329)
- hsa-mir-3934-5p (MIRT678330)
- hsa-mir-764 (MIRT678331)
- hsa-mir-125a-3p (MIRT678332)
- hsa-mir-6813-3p (MIRT678333)
- hsa-mir-6778-3p (MIRT679924)
- hsa-mir-186-3p (MIRT679925)
miRNA Products
- Search ViGene Biosciences for FBLIM1
- SwitchGear FBLIM1 3' UTR sequence
- SwitchGear FBLIM1 3' UTR sequence
- Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FBLIM1
- Browse OriGene Inhibitory RNA Products For FBLIM1
-
ViGene Biosciences ready-to-package AAV shRNAs for FBLIM1 gene
Clone Products
- Sino Biological Human cDNA Clone for FBLIM1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for FBLIM1
Cell Line Products
-
Horizon Cell Lines for FBLIM1
-
ViGene Biosciences adenoviral particle packaged cDNA for FBLIM1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FBLIM1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FBLIM1 gene
Flow Cytometry Products
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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| 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 | -- |
Pathways & Interactions for FBLIM1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cell junction organization | ||
| 2 | ERK Signaling |
.49
|
|
Pathways by source for FBLIM1 Gene
3 Reactome pathways for FBLIM1 Gene
1 Qiagen pathway for FBLIM1 Gene
Interacting Proteins for FBLIM1 Gene
Selected Interacting proteins:
Q8WUP2-FBLI1_HUMAN
ENSP00000416387
for FBLIM1 Gene via
IID
STRING
UniProtKB
| 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 | 19074766 |
| GO:0033623 | regulation of integrin activation | IMP | 19074766 |
| GO:0034329 | cell junction assembly | TAS | -- |
No data available for SIGNOR curated interactions for FBLIM1 Gene
Transcripts for FBLIM1 Gene
mRNA/cDNA for FBLIM1 Gene
- (22) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (165) Selected AceView cDNA sequences:
- (15) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FBLIM1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for FBLIM1
-
Santa Cruz Biotechnology (SCBT) CRISPR for FBLIM1
- GenScript: Design CRISPR guide RNA sequences for FBLIM1
miRNA Products
- Search ViGene Biosciences for FBLIM1
- SwitchGear FBLIM1 3' UTR sequence
- SwitchGear FBLIM1 3' UTR sequence
- Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FBLIM1
- Browse OriGene Inhibitory RNA Products For FBLIM1
-
ViGene Biosciences ready-to-package AAV shRNAs for FBLIM1 gene
Clone Products
- Sino Biological Human cDNA Clone for FBLIM1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for FBLIM1
Flow Cytometry Products
| 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: |
Expression for FBLIM1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Limb (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
-
Bone (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
-
Cartilage (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
- Intestine (Gastrointestinal Tract)
-
Colon (Gastrointestinal Tract)
-
Gall Bladder (Hepatobiliary System)
-
Larynx (Respiratory System)
-
Stomach (Gastrointestinal Tract)
-
Heart (Cardiovascular System)
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).
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
NURSA nuclear receptor signaling pathways regulating expression of FBLIM1 Gene:
FBLIM1SOURCE GeneReport for Unigene cluster for FBLIM1 Gene:
Hs.530101mRNA 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)
Primer Products
-
OriGene qPCR primer pairs and template standards for FBLIM1
-
OriGene qPCR primer pairs for FBLIM1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FBLIM1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FBLIM1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FBLIM1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fblim1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fblim1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FBLIM1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FBLIM1 34 35 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | fblim1 35 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | zyx-1 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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)
Paralogs for FBLIM1 Gene
Paralogs for FBLIM1 Gene
(5) SIMAP similar genes for FBLIM1 Gene using alignment to 10 proteins:
Pseudogenes.org Pseudogenes for FBLIM1 Gene
Variants 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 |
| 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 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FBLIM1 Gene
Disorders for FBLIM1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| kindler syndrome |
|
|
| ovarian serous carcinoma |
|
|
| skin atrophy |
|
|
Search FBLIM1 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for FBLIM1
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- FBLIM1
No data available for UniProtKB/Swiss-Prot and Genatlas for FBLIM1 Gene
Publications for FBLIM1 Gene
- 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 22 64
- 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 64
- Migfilin, a molecular switch in regulation of integrin activation. (PMID: 19074766) Ithychanda S.S. … Qin J. (J. Biol. Chem. 2009) 3 4 22 64
- 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 22 64
- Migfilin interacts with Src and contributes to cell-matrix adhesion-mediated survival signaling. (PMID: 19833732) Zhao J. … Wu C. (J. Biol. Chem. 2009) 3 22 64
Products for FBLIM1 Gene
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- Browse Proteome Profiler Antibody Arrays
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- Custom Antibody ServicesOriGene Antibodies for FBLIM1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for FBLIM1
- Search Origene for MassSpec and Protein Over-expression Lysates for FBLIM1
- Origene Custom Protein Services for FBLIM1
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FBLIM1
- Browse OriGene Inhibitory RNA Products For FBLIM1
- OriGene qPCR primer pairs and template standards for FBLIM1
- OriGene qPCR primer pairs for FBLIM1
- OriGene CRISPR knockouts for FBLIM1
- OriGene ORF clones in human for FBLIM1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For FBLIM1
- GenScript: Next-day shipping cDNA ORF clone for FBLIM1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for FBLIM1
- GenScript Custom Assay Services for FBLIM1
- GenScript Custom overexpressing Cell Line Services for FBLIM1
- GenScript: Design CRISPR guide RNA sequences for FBLIM1
- Design optimal peptide antigens
- 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
- GenScript Custom Peptide Services for FBLIM1
- Sino Biological Human cDNA Clone for FBLIM1
- Browse Sino Biological Cell Lysates
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- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
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- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for FBLIM1
- Novus Biologicals proteins and lysates for FBLIM1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- ProSpec Recombinant Proteins for FBLIM1
- Addgene plasmids for FBLIM1
- antibodies-online Antibodies for FBLIM1: See all 39
- antibodies-online Kits for FBLIM1: See all 7
- antibodies-online Proteins for FBLIM1: See all 7
- Search antibodies-online for peptides
- GeneTex FBLIM1 antibody for FBLIM1
- Search GeneTex for Proteins for FBLIM1
- ViGene Biosciences adenoviral particle packaged cDNA for FBLIM1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for FBLIM1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for FBLIM1 gene
- Search ViGene Biosciences for FBLIM1
- Santa Cruz Biotechnology (SCBT) Antibodies for FBLIM1
- Search Santa Cruz Biotechnology (SCBT) for FBLIM1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for FBLIM1
- Horizon Cell Lines for FBLIM1
- Cyagen custom Knockout/knockin (KOKI) mouse models for FBLIM1
- VectorBuilder custom plasmid, inducible vectors for FBLIM1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FBLIM1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FBLIM1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
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- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer