GSN - gelsolin Gene
Also Known as ADF; AGEL
Species: Homo sapiens
About GSN
This gene has 16 transcripts (splice variants), 271 orthologues, 7 paralogues and is associated with 3 phenotypes. Broad expression in fat (RPKM 444.2), heart (RPKM 172.6) and 23 other tissues.
Summary
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]
GSN Products (36)
| mRNA | Protein | Name |
|---|---|---|
| NM_000177.5 | NP_000168.1 | gelsolin isoform a precursor |
| NM_001127662.2 | NP_001121134.1 | gelsolin isoform b |
| NM_001127663.2 | NP_001121135.2 | gelsolin isoform f |
| NM_001127664.2 | NP_001121136.1 | gelsolin isoform b |
| NM_001127665.2 | NP_001121137.1 | gelsolin isoform b |
| NM_001127666.2 | NP_001121138.1 | gelsolin isoform c |
| NM_001127667.2 | NP_001121139.1 | gelsolin isoform c |
| NM_001258029.2 | NP_001244958.1 | gelsolin isoform d |
| NM_001258030.2 | NP_001244959.1 | gelsolin isoform e |
| NM_001353053.1 | NP_001339982.1 | gelsolin isoform b |
| NM_001353054.1 | NP_001339983.1 | gelsolin isoform b |
| NM_001353055.2 | NP_001339984.1 | gelsolin isoform b |
| NM_001353056.2 | NP_001339985.1 | gelsolin isoform b |
| NM_001353057.2 | NP_001339986.1 | gelsolin isoform b |
| NM_001353058.2 | NP_001339987.1 | gelsolin isoform b |
| NM_001353059.2 | NP_001339988.1 | gelsolin isoform b |
| NM_001353060.2 | NP_001339989.1 | gelsolin isoform b |
| NM_001353061.2 | NP_001339990.1 | gelsolin isoform b |
| NM_001353062.1 | NP_001339991.1 | gelsolin isoform b |
| NM_001353063.2 | NP_001339992.1 | gelsolin isoform c |
| NM_001353064.2 | NP_001339993.1 | gelsolin isoform c |
| NM_001353065.2 | NP_001339994.1 | gelsolin isoform c |
| NM_001353066.2 | NP_001339995.1 | gelsolin isoform c |
| NM_001353067.2 | NP_001339996.1 | gelsolin isoform c |
| NM_001353068.2 | NP_001339997.1 | gelsolin isoform c |
| NM_001353069.2 | NP_001339998.1 | gelsolin isoform c |
| NM_001353070.2 | NP_001339999.1 | gelsolin isoform c |
| NM_001353071.2 | NP_001340000.1 | gelsolin isoform c |
| NM_001353072.2 | NP_001340001.1 | gelsolin isoform c |
| NM_001353073.2 | NP_001340002.1 | gelsolin isoform c |
| NM_001353074.2 | NP_001340003.1 | gelsolin isoform c |
| NM_001353075.1 | NP_001340004.1 | gelsolin isoform c |
| NM_001353076.2 | NP_001340005.1 | gelsolin isoform g |
| NM_001353077.1 | NP_001340006.1 | gelsolin isoform c |
| NM_001353078.2 | NP_001340007.1 | gelsolin isoform h |
| NM_198252.3 | NP_937895.1 | gelsolin isoform b |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables actin binding |
IDA
IDA: Inferred from direct assay
|
18266911 | GOA |
| enables calcium ion binding |
IMP
IMP: Inferred from mutant phenotype
|
14596804 | GOA |
| enables myosin II binding |
IPI
IPI: Inferred from physical interaction
|
23325791 | GOA |
| enables phosphatidylinositol 3-kinase catalytic subunit binding |
IPI
IPI: Inferred from physical interaction
|
30568254 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10793131 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in actin cap |
IDA
IDA: Inferred from direct assay
|
23575248 | GOA |
| colocalizes with cortical actin cytoskeleton |
IDA
IDA: Inferred from direct assay
|
23575248 | GOA |
| located in cortical actin cytoskeleton |
IDA
IDA: Inferred from direct assay
|
24236012 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
23575248 | GOA |
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
3020431 | GOA |
| located in extracellular region |
IDA
IDA: Inferred from direct assay
|
3020431 | GOA |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
14596804 | GOA |
| colocalizes with nucleus |
IDA
IDA: Inferred from direct assay
|
23729654 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
23575248 | GOA |
| located in podosome |
IDA
IDA: Inferred from direct assay
|
24236012 | GOA |
| located in sarcoplasm |
IDA
IDA: Inferred from direct assay
|
19549824 | GOA |
GSN Protein Structure
Gelsolin: Gelsolin repeat (76 - 158)
Gelsolin: Gelsolin repeat (198 - 270)
Gelsolin: Gelsolin repeat (317 - 389)
Gelsolin: Gelsolin repeat (455 - 536)
Gelsolin: Gelsolin repeat (577 - 642)
Gelsolin: Gelsolin repeat (681 - 757)
- 0
- 200
- 400
- 600
- 782 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
gelsolin |
|
GSN Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
GSN | P06396 | DISC1 | Homo sapiens | Q9NRI5 | 29961565 | |
|
Cross
|
GSN | P06396 | ACTA1 | Oryctolagus cuniculus | P68135 | 19666512 | |
|
Cross
|
GSN | P06396 | ACTA1 | Oryctolagus cuniculus | P68135 | 19666512 | |
|
Cross
|
GSN | P06396 | ACTA1 | Oryctolagus cuniculus | P68135 | 19666512 | |
|
Cross
|
GSN | P06396 | ACTA1 | Oryctolagus cuniculus | P68135 | 16531231 | |
|
Cross
|
GSN | P06396 | ACTA1 | Oryctolagus cuniculus | P68135 | 19666512 |
GSN Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81825 | Gelsolin Antibody (YA1570) | WB, IHC-P, ICC/IF, FC | Human, Mouse |
| HY-P83971 | Gelsolin Antibody (YA3668) | IHC-P, FC, ELISA | Human |
| HY-P83971A | Gelsolin Antibody (YA3668)(PBS only) | IHC-P, FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Amyloidosis, Finnish Type |
|
|
| Amyloidosis |
|
|
| Lattice Corneal Dystrophy |
|
|
| Hereditary Amyloidosis |
|
|
| Amyloidosis, Hereditary, Transthyretin-Related |
|
|
| Polyneuropathy |
|
|
| Corneal Dystrophy, Gelatinous Drop-Like |
|
|
| Corneal Dystrophy |
|
|
| Amyloid Neuropathy |
|
|
| Corneal Dystrophy, Lattice Type I |
|
|
| Primary Cutaneous Amyloidosis |
|
|
| Amyloidosis, Familial Visceral |
|
|
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
|
| Corneal Disease |
|
|
| Cutis Laxa |
|
|
| Keratoconus |
|
|
| Radial Neuropathy |
|
|
| Immunoglobulin Heavy Chain Amyloidosis |
|
|
| Blepharochalasis |
|
|
| Nephrotic Syndrome |
|
|
| Bladder Cancer |
|
|
| Apolipoprotein A-Iv Associated Amyloidosis |
|
|
| Rheumatic Myocarditis |
|
|
| Tuberous Sclerosis |
|
|
| Epithelial-Stromal Tgfbi Dystrophy |
|
|
| Wild-Type Amyloidosis |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Cerebral Amyloid Angiopathy, App-Related |
|
|
| Immunoglobulin Light Chain Amyloidosis |
|
|
| Recurrent Corneal Erosion |
|
|
| Asymmetric Motor Neuropathy |
|
|
| Cerebral Amyloid Angiopathy, Itm2b-Related, 1 |
|
|
| Epithelial And Subepithelial Dystrophy |
|
|
| Cystic Fibrosis |
|
|
| Nerve Compression Syndrome |
|
|
| Lung Cancer |
|
|
| Colorectal Cancer |
|
|
| Retinitis Pigmentosa |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Myopathy |
|
|
| Interstitial Lung Disease 2 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | GSN | VGNC | VGNC:29680 |
| Rattus norvegicus | GSN | RGD | RGD:1303089 |
| Canis familiaris | GSN | VGNC | VGNC:41532 |
| Macaca mulatta | GSN | VGNC | VGNC:73299 |
| Mus musculus | GSN | MGD | MGI:95851 |
| Felis catus | GSN | VGNC | VGNC:67486 |
| Others | GSN | NCBI |