FBLIM1
Filamin Binding LIM Protein 1
Gene Information Card
| Symbol | FBLIM1 |
|---|---|
| Full Name | Filamin Binding LIM Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.21 |
| NCBI Gene ID | 54751 ncbi.nlm.nih.gov/gene/54751 |
| Ensembl ID | ENSG00000162458 |
| UniProt ID | Q8WUP2 |
| OMIM ID | 609677 |
| HGNC ID | 24686 |
| Aliases | FBLP-1, migfilin, CAL |
Description
FBLIM1 (Filamin Binding LIM Protein 1), also known as migfilin, encodes a protein that localizes to cell-matrix adhesions and links the integrin-associated protein migfilin to the actin cytoskeleton via filamin binding. It plays a critical role in cell shape modulation, migration, and adhesion signaling. FBLIM1 is involved in bone development and has been implicated in cancer progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoporosis | FBLIM1 variants affect bone mineral density through altered osteoblast adhesion and signaling | GWAS and association studies (PMID: 22504420) |
| Prostate cancer | Overexpression of FBLIM1 promotes cell migration and invasion via integrin/filamin pathway | Expression analysis and functional studies (PMID: 23251472) |
| Breast cancer | FBLIM1 upregulation correlates with poor prognosis and enhanced metastatic potential | Immunohistochemistry and survival analysis (PMID: 25636874) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Heart | 9.8 | Low |
| Skeletal muscle | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | Moderate expression |
| MCF7 | 11.2 | Moderate expression |
| A549 | 9.7 | Low expression |
| HEK293 | 8.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.457G>A (p.Gly153Ser) | Missense | 0.005% (gnomAD) | Predicted benign |
| c.832C>T (p.Arg278Trp) | Missense | 0.02% (gnomAD) | Possibly damaging (in silico) |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for FBLIM1.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role in migration and invasion.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • actin cytoskeleton organization |
| • integrin-mediated signaling pathway | • cell migration |
| • focal adhesion assembly |
Pathways
• Integrin signaling pathway (Reactome: R-HSA-354192)
• Focal adhesion (KEGG: hsa04510)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
The FBLIM1 protein (migfilin) is a 373-amino acid LIM domain-containing protein that interacts with filamin and migfilin-binding protein. It localizes to focal adhesions and regulates cell-matrix adhesion dynamics. Through its LIM domains, it mediates protein-protein interactions essential for cytoskeletal remodeling and cell motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBLIM1 Knockout HEK293 Cell Line | EDJ-KQ13452 | Human | 54751 | Details Get a Quote |
| FBLIM1 Knockout A-549 Cell Line | EDJ-KQ43014 | Human | 54751 | Details Get a Quote |
| FBLIM1 Knockout HCT 116 Cell Line | EDJ-KQ43015 | Human | 54751 | Details Get a Quote |
| FBLIM1 Knockout HeLa Cell Line | EDJ-KQ43016 | Human | 54751 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
