FBLIM1
Description
The FBLIM1 (filamin binding LIM protein 1) is a protein-coding gene located on chromosome 1.
Filamin-binding LIM protein 1 (FBLIM1) is a protein encoded by the FBLIM1 gene in humans. The protein contains an N-terminal filamin-binding domain, a central proline-rich domain, and multiple C-terminal LIM domains. It localizes at cell junctions, potentially linking cell adhesion structures to the actin cytoskeleton. FBLIM1 might participate in the assembly and stabilization of actin filaments, influencing cell adhesion, morphology, and motility. Additionally, it localizes to the nucleus and may impact cardiomyocyte differentiation through interactions with the CSX/NKX2-5 transcription factor. Alternative splicing generates multiple transcript variants encoding different isoforms.
FBLIM1 serves as a crucial link between cell-ECM adhesion proteins and filamin-containing actin filaments, playing a key role in cell shape modulation and motility. It regulates filamin-mediated cross-linking and stabilization of actin filaments, potentially contributing to the assembly of signaling complexes that control actin assembly. Notably, FBLIM1 promotes the dissociation of FLNA from ITGB3 and ITGB7, leading to integrin activation and regulation of integrin-mediated cell-cell adhesion.
FBLIM1 is also known as CAL, FBLP-1, FBLP1.
Associated Diseases
- Gollop-Wolfgang complex
- chronic recurrent multifocal osteomyelitis
- acheiropody
- tibia, hypoplasia or aplasia of, with polydactyly
- Blount disease
- acromesomelic dysplasia 2C, Hunter-Thompson type
- acromesomelic dysplasia 2A
- osteomesopyknosis
- syndactyly type 4
- mesomelic dysplasia, Savarirayan type
- laurin-Sandrow syndrome
