PLS3

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Plastin 3

PDB rendering based on 1aoa.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
SymbolsPLS3; T-plastin
External IDsOMIM: 300131 MGI: 104807 HomoloGene: 128200 GeneCards: PLS3 Gene
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez5358102866
EnsemblENSG00000102024ENSMUSG00000016382
UniProtP13797Q99K51
RefSeq (mRNA)NM_001136025NM_001166453
RefSeq (protein)NP_001129497NP_001159925
Location (UCSC)Chr HG1462_PATCH:
114.8 – 114.89 Mb
Chr X:
75.79 – 75.88 Mb
PubMed search

Plastin-3 is a highly-conserved protein that in humans is encoded by the PLS3 gene on the X chromosome.[1][2]

Function

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.[2]

Clinical significance

Defects in PLS3 are associated with osteoporosis and bone fracture in humans and in knockout zebrafish.[3]

References

  1. Lin CS, Park T, Chen ZP, Leavitt J (Mar 1993). "Human plastin genes. Comparative gene structure, chromosome location, and differential expression in normal and neoplastic cells". J Biol Chem 268 (4): 2781–92. PMID 8428952. 
  2. 2.0 2.1 "Entrez Gene: PLS3 plastin 3 (T isoform)". 
  3. van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, et al. (October 2013). "PLS3 Mutations in X-Linked Osteoporosis with Fractures". N. Engl. J. Med. doi:10.1056/NEJMoa1308223. PMID 24088043. 

Further reading

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