RBCC Red Blood Cell Collection

GELS_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: GSN
Protein names and data: GELS_HUMAN , Gelsolin , AGEL; Actin-depolymerizing factor; ADF; Brevin; Flags: Precursor Lenght: 782 a.a.
Mass: 85698 Da
fasta formatted sequence
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.
Disease: ( OMIM: 105120 137350 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Isoform 2: Cytoplasm, cytoskeleton. Isoform 1: Secreted.
Tissue specificity: Phagocytic cells, platelets, fibroblasts, nonmuscle cells, smooth and skeletal muscle cells.

Genetic variants

22 - 22 S -> L (in a breast cancer sample; somatic mutation). VAR_036337
129 - 129 A -> T (in dbSNP:rs2230287). VAR_024690 2230287
201 - 201 T -> I (in a breast cancer sample; somatic mutation). VAR_036338
214 - 214 D -> N (in AMYL5). VAR_007718
214 - 214 D -> Y (in AMYL5). VAR_007719
231 - 231 N -> D (in dbSNP:rs11550199). VAR_061982 11550199
611 - 611 S -> N (in a breast cancer sample; somatic mutation). VAR_036339
668 - 668 R -> L (in dbSNP:rs9696578). VAR_033958 9696578

Database cross-references

UniProt: P06396
Ensembl: ENST00000341272
Ensembl: ENST00000373808
Ensembl: ENST00000373818
Ensembl: ENST00000373823
Ensembl: ENST00000394353
Ensembl: ENST00000412819
Ensembl: ENST00000436847
Ensembl: ENST00000449733
MIM: 105120
MIM: 137350
neXtProt: NX_P06396
Antibodypedia: P06396 (may not find the protein thus also not any antibody)
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