GSN Gene Summary [Human]
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]
Details
| Type | Processed Transcript |
| Official Symbol | GSN |
| Official Name | gelsolin [Source:HGNC Symbol;Acc:HGNC:4620] |
| Ensembl ID | ENSG00000148180 |
| Bio databases IDs | |
| Aliases | gelsolin, amyloidosis, Finnish type |
| Synonyms | ADF, AGEL, AMYLD4, Gelsolin, Gelsolin plasma isoform, LOC105376337 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GSN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phosphatidylinositol 4,5-biphosphate binding domain
- arginine-lysine rich domain
- Actin depolymerization factor/cofilin- and gelsolin-like domains
- phosphoinositide 3-kinase binding
- kinase binding
- Gelsolin repeat
- phosphoinositide binding domain
- actin binding
- calcium ion binding
- myosin II binding
- protein binding
Pathways
Biological processes and signaling networks where the GSN gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- diffuse large B-cell lymphoma
- schizophrenia
- epithelial cancer
- epithelial neoplasia
- thymoma
- lymphatic neoplasia
- survival
- lung adenocarcinoma
- lung adenocarcinoma formation
- non-small cell lung carcinoma
role in cell
- number
- migration
- expression in
- growth
- apoptosis
- phosphorylation in
- formation
- quantity
- deposition by
- binding in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- myelin enriched fraction
- mitochondrial fraction
- ruffle
- cortical actin cytoskeleton
- secretory granule lumen
- ficolin-1-rich granule lumen
- Cytoplasm
- cilia
- cell surface
- cell periphery
- perinuclear region
- cellular membrane
- focal adhesions
- podosomes
- actin cytoskeleton
- Nucleus
- Plasma Membrane
- vesicles
- Mitochondria
- intermediate filaments
- actin filaments
- intercellular junctions
- cytosol
- sarcoplasm
- growth cone
- neurites
- myelin sheath
- membrane processes
- cell membrane leading edge
- perikaryon
- phagosomes
- plasma
- basement membrane
- lamellipodia
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GSN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell projection assembly
- actin filament organization
- phagocytosis, engulfment
- positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway
- response to muscle stretch
- positive regulation of actin nucleation
- cardiac muscle cell contraction
- sequestering of actin monomers
- cilium morphogenesis
- striated muscle atrophy
- actin polymerization or depolymerization
- extracellular matrix disassembly
- actin filament depolymerization
- actin filament polymerization
- hepatocyte apoptotic process
- protein destabilization
- barbed-end actin filament capping
- central nervous system development
- actin filament severing
- actin filament capping
- negative regulation of viral entry into host cell
- positive regulation of gene expression
- renal protein absorption
- cellular response to interferon-gamma
- relaxation of cardiac muscle
- regulation of podosome assembly
Cellular Component
Where in the cell the gene product is active
- sarcoplasm
- phagocytic vesicle
- extracellular region
- plasma membrane
- podosome
- nucleus
- extracellular space
- extracellular vesicular exosome
- focal adhesion
- cytoplasm
- blood microparticle
- actin cytoskeleton
- cytosol
- secretory granule lumen
- cortical actin cytoskeleton
- actin cap
- lamellipodium
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- phosphatidylinositol-4,5-bisphosphate binding
- protein binding
- actin binding
- calcium ion binding
- myosin II binding