PLS3

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Plastin 3
Protein PLS3 PDB 1aoa.png
PDB rendering based on 1aoa.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PLS3 ; T-plastin
External IDs OMIM300131 MGI104807 HomoloGene128200 GeneCards: PLS3 Gene
RNA expression pattern
PBB GE PLS3 201215 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5358 102866
Ensembl ENSG00000102024 ENSMUSG00000016382
UniProt P13797 Q99K51
RefSeq (mRNA) NM_001136025 NM_001166453
RefSeq (protein) NP_001129497 NP_001159925
Location (UCSC) Chr HG1462_PATCH:
114.8 – 114.89 Mb
Chr X:
75.79 – 75.88 Mb
PubMed search [1] [2]

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

Function[edit]

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[edit]

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

References[edit]

  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. ^ a b "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[edit]