GSN

The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Full Name

Gelsolin

Function

Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed. Plays a role in ciliogenesis.

Biological Process

Actin filament capping Source: UniProtKB
Actin filament depolymerization Source: BHF-UCL
Actin filament polymerization Source: UniProtKB
Actin filament reorganization Source: UniProtKB
Actin filament severing Source: UniProtKB
Actin nucleation Source: InterPro
Actin polymerization or depolymerization Source: GO_Central
Amyloid fibril formation Source: UniProtKB
Barbed-end actin filament capping Source: GO_Central
Cardiac muscle cell contraction Source: BHF-UCL
Cell projection assembly Source: GO_Central
Cellular response to interferon-gamma Source: Ensembl
Central nervous system development Source: GO_Central
Cilium assembly Source: UniProtKB
Hepatocyte apoptotic process Source: UniProtKB
Negative regulation of viral entry into host cell Source: UniProtKB
Phagocytosis, engulfment Source: UniProtKB
Positive regulation of actin nucleation Source: UniProtKB
Positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway Source: UniProtKB
Positive regulation of gene expression Source: UniProtKB
Positive regulation of keratinocyte apoptotic process Source: UniProtKB
Positive regulation of protein processing in phagocytic vesicle Source: UniProtKB
Protein destabilization Source: UniProtKB
Regulation of establishment of T cell polarity Source: UniProtKB
Regulation of plasma membrane raft polarization Source: UniProtKB
Regulation of podosome assembly Source: UniProtKB
Regulation of receptor clustering Source: UniProtKB
Relaxation of cardiac muscle Source: BHF-UCL
Renal protein absorption Source: UniProtKB
Response to muscle stretch Source: BHF-UCL
Sequestering of actin monomers Source: UniProtKB
Striated muscle atrophy Source: UniProtKB

Cellular Location

Isoform 2: Cytoskeleton
Isoform 1: Secreted

Involvement in disease

Amyloidosis 5 (AMYL5):
A hereditary generalized amyloidosis due to gelsolin amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure.

PTM

Phosphorylation on Tyr-86, Tyr-409, Tyr-465, Tyr-603 and Tyr-651 in vitro is induced in presence of phospholipids.