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MGP001345

UniProt Annotations

Entry Information
Gene Namegelsolin
Protein EntryGELS_HUMAN
UniProt IDP06396
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing, Alternative initiation; Named isoforms=4; Name=1; Synonyms=Secreted, Plasma; IsoId=P06396-1; Sequence=Displayed; Name=2; Synonyms=Cytoplasmic; IsoId=P06396-2; Sequence=VSP_018959; Name=3; IsoId=P06396-3; Sequence=VSP_042879; Name=4; IsoId=P06396-4; Sequence=VSP_054791; Note=No experimental confirmation available.;
DiseaseAmyloidosis 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:0000269|PubMed:1338910, ECO:0000269|PubMed:2176481}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCalcium-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:0000269|PubMed:20393563}.
InteractionP49407:ARRB1; NbExp=3; IntAct=EBI-351506, EBI-743313; P32121:ARRB2; NbExp=3; IntAct=EBI-351506, EBI-714559;
PtmPhosphorylation on Tyr-86, Tyr-409, Tyr-465, Tyr-603 and Tyr- 651 in vitro is induced in presence of phospholipids. {ECO:0000269|PubMed:10210201}.
SimilarityBelongs to the villin/gelsolin family. {ECO:0000305}.
SimilarityContains 6 gelsolin-like repeats. {ECO:0000305}.
Subcellular LocationIsoform 1: Secreted.
Subcellular LocationIsoform 2: Cytoplasm, cytoskeleton.
SubunitBinds to actin and to fibronectin. Identified in a complex composed of ACTA1, COBL, GSN AND TMSB4X. Interacts with the inactive form of EIF2AK2/PKR (By similarity). {ECO:0000250}.
Tissue SpecificityPhagocytic cells, platelets, fibroblasts, nonmuscle cells, smooth and skeletal muscle cells.
Web ResourceName=Wikipedia; Note=Gelsolin entry; URL="http://en.wikipedia.org/wiki/Gelsolin";
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