InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GSN

Summary

InnateDB Protein

IDBP-379496.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GSN

Protein Name

gelsolin

Synonyms

ADF; AGEL;

Species

Homo sapiens

Ensembl Protein

ENSP00000416586

InnateDB Gene

IDBG-83407 (GSN)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:20393563}.

Subcellular Localization

Isoform 2: Cytoplasm, cytoskeleton.Isoform 1: Secreted.

Disease Associations

Amyloidosis 5 (AMYL5) [MIM:105120]: 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. {ECO:0000269PubMed:1338910, ECO:0000269PubMed:2176481}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Phagocytic cells, platelets, fibroblasts, nonmuscle cells, smooth and skeletal muscle cells.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	43 [view]
Protein-Protein	43 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005509	calcium ion binding
GO:0005515	protein binding

Biological Process

GO:0006915	apoptotic process
GO:0006921	cellular component disassembly involved in execution phase of apoptosis
GO:0030041	actin filament polymerization
GO:0051014	actin filament severing
GO:0051016	barbed-end actin filament capping
GO:0060271	cilium morphogenesis