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PLS3

1AOA, 1WJO5358102866ENSG00000102024ENSMUSG00000016382P13797Q99K51NM_001136025NM_001172335NM_001282337NM_001282338NM_005032NM_001166453NM_001166454NM_145629NM_001346519NM_001346520NP_001129497NP_001165806NP_001269266NP_001269267NP_005023NP_001159925NP_001159926NP_001333448NP_001333449NP_663604Plastin-3 is a highly conserved protein that in humans is encoded by the PLS3 gene on the X chromosome.1aoa: N-Terminal Actin-Crosslinking domain from human fimbrin1wjo: Solution structure of the fourth CH domain from human plastin 3 T-isoform Plastin-3 is a highly conserved protein that in humans is encoded by the PLS3 gene on the X chromosome. Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). The C-terminal 570 amino acids of the T-plastin and L-plastin proteins are 83% identical. It contains a potential calcium-binding site near the N-terminus. Defects in PLS3 are associated with osteoporosis and bone fracture in humans and in knockout zebrafish.

[ "Phenotype", "Spinal muscular atrophy", "Mutation" ]
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