40S ribosomal protein S19 is a
protein that in humans is encoded by the ''RPS19''
gene.
Function
Ribosome
Ribosomes ( ) are macromolecular machines, found within all cells, that perform biological protein synthesis (mRNA translation). Ribosomes link amino acids together in the order specified by the codons of messenger RNA (mRNA) molecules to ...
s, the
organelle
In cell biology, an organelle is a specialized subunit, usually within a cell, that has a specific function. The name ''organelle'' comes from the idea that these structures are parts of cells, as organs are to the body, hence ''organelle,'' the ...
s that
catalyze protein synthesis
Protein biosynthesis (or protein synthesis) is a core biological process, occurring inside Cell (biology), cells, homeostasis, balancing the loss of cellular proteins (via Proteolysis, degradation or Protein targeting, export) through the product ...
, consist of a
small 40S subunit and a
large 60S subunit. Together these subunits are composed of 4
RNA
Ribonucleic acid (RNA) is a polymeric molecule essential in various biological roles in coding, decoding, regulation and expression of genes. RNA and deoxyribonucleic acid ( DNA) are nucleic acids. Along with lipids, proteins, and carbohydra ...
species and approximately 80 structurally distinct proteins. This gene encodes a
ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family of ribosomal proteins. It is located in the
cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed
pseudogene
Pseudogenes are nonfunctional segments of DNA that resemble functional genes. Most arise as superfluous copies of functional genes, either directly by DNA duplication or indirectly by Reverse transcriptase, reverse transcription of an mRNA trans ...
s of this gene dispersed through the genome.
Clinical significance
Mutations in this gene cause
Diamond–Blackfan anemia (DBA), a constitutional
erythroblastopenia characterized by absent or decreased
erythroid precursors, in a subset of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic
differentiation and
proliferation
Proliferation may refer to:
Weapons
*Nuclear proliferation, the spread of nuclear weapons, material, and technology
*Chemical weapon proliferation, the spread of chemical weapons, material, and technology
* Small arms proliferation, the spread of ...
, in addition to its ribosomal function. Higher expression levels of this gene in some primary
colon carcinomas compared to matched normal colon tissues has been observed.
Interactions
Ribosomal protein S19 has been shown to
interact with
basic fibroblast growth factor.
RPS19 is also secreted extracellularly and its extracellular oligomers (crosslinked by the
transglutaminase Coagulation factor XIII) is also known to bind and probably inhibit
Macrophage migration inhibitory factor; though S19 oligomers themselves share MCIP's function as another very strong macrophage chemoattractant and bind to anaphylotoxin C5 receptor
[Molecular Basis of Cell and Developmental Biology: Ana-Maria Filip, Jörg Klug, Sevil Cayli, Suada Fröhlich, Tamara Henke, Philipp Lacher, Regina Eickhoff, Patrick Bulau, Monika Linder, Christine Carlsson-Skwirut, Lin Leng, Richard Bucala, Sandra Kraemer, Jürgen Bernhagen, and Andreas Meinhardt. "Ribosomal Protein S19 Interacts with Macrophage Migration Inhibitory Factor and Attenuates Its Pro-inflammatory Function"' ''J. Biol. Chem.'' 2009 284: 7977–7985. First Published on January 20, 2009, doi:10.1074/jbc.M808620200]
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
External links
GeneReviews/NCBI/NIH/UW entry on Diamond–Blackfan Anemia OMIM entries on Diamond–Blackfan Anemia
{{Ribosome subunits
Ribosomal proteins