InnateDB Protein
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IDBP-83409.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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GSN
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Protein Name
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gelsolin
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Synonyms
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ADF; AGEL;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000340888
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InnateDB Gene
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IDBG-83407 (GSN)
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Protein Structure
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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}.
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Subcellular Localization |
Isoform 2: Cytoplasm, cytoskeleton.Isoform 1: Secreted.
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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.
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Tissue Specificity |
Phagocytic cells, platelets, fibroblasts, nonmuscle cells, smooth and skeletal muscle cells.
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Comments |
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Number of Interactions
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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]
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Protein-Protein |
43
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
5 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR007122
Villin/Gelsolin
IPR007123
Gelsolin-like domain
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PFAM |
PF00626
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PRINTS |
PR00597
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PIRSF |
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SMART |
SM00262
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TIGRFAMs |
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Modification |
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SwissProt |
P06396
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PhosphoSite |
PhosphoSite-P06396
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TrEMBL |
Q5T0I0
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UniProt Splice Variant |
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Entrez Gene |
2934
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UniGene |
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RefSeq |
NP_937895
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HUGO |
HGNC:4620
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OMIM |
137350
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CCDS |
CCDS6829
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HPRD |
00674
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IMGT |
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EMBL |
AK096280
AK125819
AK295572
AK299453
AK315494
AL137068
AL513122
BC017491
BC026033
CH471090
X04412
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GenPept |
AAH17491
AAH26033
BAG37878
BAG53247
BAG54252
BAH12109
BAH13037
CAA28000
CAI14413
CAM20459
EAW87489
EAW87490
EAW87491
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