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UniProt functional annotation for P06396 | ||
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| UniProt code: P06396. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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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:0000269|PubMed:20393563}. |
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| Subunit: | |
Binds 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}. |
| Subcellular location: | |
[Isoform 2]: Cytoplasm, cytoskeleton. |
| Subcellular location: | |
[Isoform 1]: Secreted. |
| Tissue specificity: | |
Phagocytic cells, platelets, fibroblasts, nonmuscle cells, smooth and skeletal muscle cells. |
| Ptm: | |
Phosphorylation on Tyr-86, Tyr-409, Tyr-465, Tyr-603 and Tyr-651 in vitro is induced in presence of phospholipids. {ECO:0000269|PubMed:10210201}. |
| Disease: | |
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:0000269|PubMed:1338910, ECO:0000269|PubMed:2176481}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the villin/gelsolin family. {ECO:0000305}. |
Annotations taken from UniProtKB at the EBI.