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PLS3

From Wikipedia, the free encyclopedia
(Redirected from PLS3 (gene))
PLS3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPLS3, BMND18, T-plastin, plastin 3
External IDsOMIM: 300131; MGI: 104807; HomoloGene: 128200; GeneCards: PLS3; OMA:PLS3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001136025
NM_001172335
NM_001282337
NM_001282338
NM_005032

NM_001166453
NM_001166454
NM_145629
NM_001346519
NM_001346520

RefSeq (protein)

NP_001129497
NP_001165806
NP_001269266
NP_001269267
NP_005023

NP_001159925
NP_001159926
NP_001333448
NP_001333449
NP_663604

Location (UCSC)Chr X: 115.56 – 115.65 MbChr X: 74.83 – 74.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Plastin-3 is a highly conserved protein that in humans is encoded by the PLS3 gene on the X chromosome.[5][6]

Function

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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.[6]

Clinical significance

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Defects in PLS3 are associated with osteoporosis and bone fracture in humans and in knockout zebrafish.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000102024Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000016382Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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. doi:10.1016/S0021-9258(18)53842-4. PMID 8428952.
  6. ^ a b "Entrez Gene: PLS3 plastin 3 (T isoform)".
  7. ^ 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. 369 (16): 1529–36. CiteSeerX 10.1.1.713.901. doi:10.1056/NEJMoa1308223. PMID 24088043.

Further reading

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