Misplaced Pages

PLS3

Article snapshot taken from Wikipedia with creative commons attribution-sharealike license. Give it a read and then ask your questions in the chat. We can research this topic together.
Protein-coding gene in the species Homo sapiens
PLS3
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1AOA, 1WJO

Identifiers
AliasesPLS3, BMND18, T-plastin, plastin 3
External IDsOMIM: 300131; MGI: 104807; HomoloGene: 128200; GeneCards: PLS3; OMA:PLS3 - orthologs
Gene location (Human)
X chromosome (human)
Chr.X chromosome (human)
X chromosome (human)Genomic location for PLS3Genomic location for PLS3
BandXq23Start115,561,174 bp
End115,650,861 bp
Gene location (Mouse)
X chromosome (mouse)
Chr.X chromosome (mouse)
X chromosome (mouse)Genomic location for PLS3Genomic location for PLS3
BandX|X A7.3Start74,829,260 bp
End74,918,788 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Achilles tendon

  • visceral pleura

  • parietal pleura

  • skin of hip

  • amniotic fluid

  • Descending thoracic aorta

  • ascending aorta

  • right coronary artery

  • oral cavity

  • skin of thigh
Top expressed in
  • tunica media of zone of aorta

  • subiculum

  • ascending aorta

  • conjunctival fornix

  • efferent ductule

  • pontine nuclei

  • umbilical cord

  • carotid body

  • molar

  • mammillary body
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
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 MbChr X: 74.83 – 74.92 Mb
PubMed search
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.

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.

Clinical significance

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

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000102024Ensembl, May 2017
  2. ^ 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. ^ "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

PDB gallery
  • 1aoa: N-Terminal Actin-Crosslinking domain from human fimbrin 1aoa: N-Terminal Actin-Crosslinking domain from human fimbrin
  • 1wjo: Solution structure of the fourth CH domain from human plastin 3 T-isoform 1wjo: Solution structure of the fourth CH domain from human plastin 3 T-isoform


Stub icon

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Misplaced Pages by expanding it.

Categories: