PLS3

PLS3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1AOA, 1WJO
Identifiers
Aliases	PLS3 , BMND18, T-plastin, plastin 3
External IDs	OMIM: 300131 MGI: 104807 HomoloGene: 128200 GeneCards: PLS3
Gene location (Human) Chr. X chromosome (human) [1] Band Xq23 Start 115,561,174 bp [1] End 115,650,861 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X|X A7.3 Start 74,829,260 bp [2] End 74,918,788 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon visceral pleura parietal pleura amniotic fluid ascending aorta right coronary artery cavity of mouth popliteal artery human penis synovial joint Top expressed in subiculum ascending aorta conjunctival fornix pontine nuclei belly cord carotid body molar mammillary body aortic valve habenula More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding actin binding metal ion binding actin filament binding Cellular component cytoplasm cytosol actin filament plasma membrane actin filament bundle Biological process bone development actin filament bundle assembly actin filament network formation actin crosslink formation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5358 102866 Ensembl ENSG00000102024 ENSMUSG00000016382 UniProt P13797 Q99K51 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 Mb Chr X: 74.83 – 74.92 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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

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

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

References

1. GRCh38: Ensembl release 89: ENSG00000102024 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000016382 - Ensembl, 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. "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

• Lin CS, Aebersold RH, Leavitt J (1990). "Correction of the N-terminal sequences of the human plastin isoforms by using anchored polymerase chain reaction: identification of a potential calcium-binding domain". Mol. Cell. Biol. 10 (4): 1818–21. doi:10.1128/MCB.10.4.1818. PMC   362293 . PMID   2378651.
• Lin CS, Aebersold RH, Kent SB, et al. (1988). "Molecular cloning and characterization of plastin, a human leukocyte protein expressed in transformed human fibroblasts". Mol. Cell. Biol. 8 (11): 4659–68. doi:10.1128/MCB.8.11.4659. PMC   365555 . PMID   3211125.
• Goldstein D, Djeu J, Latter G, et al. (1985). "Abundant synthesis of the transformation-induced protein of neoplastic human fibroblasts, plastin, in normal lymphocytes". Cancer Res. 45 (11 Pt 2): 5643–7. PMID   4053036.
• Arpin M, Friederich E, Algrain M, et al. (1995). "Functional differences between L- and T-plastin isoforms". J. Cell Biol. 127 (6 Pt 2): 1995–2008. doi:10.1083/jcb.127.6.1995. PMC   2120298 . PMID   7806577.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Lin CS, Shen W, Chen ZP, et al. (1994). "Identification of I-plastin, a human fimbrin isoform expressed in intestine and kidney". Mol. Cell. Biol. 14 (4): 2457–67. doi:10.1128/mcb.14.4.2457. PMC   358613 . PMID   8139549.
• Goldsmith SC, Pokala N, Shen W, et al. (1997). "The structure of an actin-crosslinking domain from human fimbrin". Nat. Struct. Biol. 4 (9): 708–12. doi:10.1038/nsb0997-708. PMID   9302997. S2CID   9506514.
• Shoeman RL, Hartig R, Hauses C, Traub P (2003). "Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease". Cell Biol. Int. 26 (6): 529–39. doi:10.1006/cbir.2002.0895. PMID   12119179. S2CID   39778155.
• Rao RM, Rama S, Rao AJ (2004). "Changes in T-plastin expression with human trophoblast differentiation". Reprod. Biomed. Online. 7 (2): 235–42. doi: 10.1016/S1472-6483(10)61758-0 . PMID   14567899.
• Su MW, Dorocicz I, Dragowska WH, et al. (2004). "Aberrant expression of T-plastin in Sezary cells". Cancer Res. 63 (21): 7122–7. PMID   14612505.
• Giganti A, Plastino J, Janji B, et al. (2005). "Actin-filament cross-linking protein T-plastin increases Arp2/3-mediated actin-based movement". J. Cell Sci. 118 (Pt 6): 1255–65. doi: 10.1242/jcs.01698 . PMID   15741236.
• Ralser M, Nonhoff U, Albrecht M, et al. (2005). "Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways". Hum. Mol. Genet. 14 (19): 2893–909. doi: 10.1093/hmg/ddi321 . PMID   16115810.
• Ikeda H, Sasaki Y, Kobayashi T, et al. (2006). "The role of T-fimbrin in the response to DNA damage: silencing of T-fimbrin by small interfering RNA sensitizes human liver cancer cells to DNA-damaging agents". Int. J. Oncol. 27 (4): 933–40. doi:10.3892/ijo.27.4.933. PMID   16142308.