40S ribosomal protein S19 is a protein that in humans is encoded by the RPS19 gene. [5] [6]
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA 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 pseudogenes of this gene dispersed through the genome. [6]
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, 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. [6]
Ribosomal protein S19 has been shown to interact with basic fibroblast growth factor. [7] 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 [8]
Diamond–Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. DBA causes low red blood cell counts (anemia), without substantially affecting the other blood components, which are usually normal. This is in contrast to Shwachman–Bodian–Diamond syndrome, in which the bone marrow defect results primarily in neutropenia, and Fanconi anemia, where all cell lines are affected resulting in pancytopenia.
GATA-binding factor 1 or GATA-1 is the founding member of the GATA family of transcription factors. This protein is widely expressed throughout vertebrate species. In humans and mice, it is encoded by the GATA1 and Gata1 genes, respectively. These genes are located on the X chromosome in both species.
60S ribosomal protein L5 is a protein that in humans is encoded by the RPL5 gene.
40S ribosomal protein S3a is a protein that in humans is encoded by the RPS3A gene.
40S ribosomal protein S4, X isoform is a protein that in humans is encoded by the RPS4X gene.
60S ribosomal protein L11 is a protein that in humans is encoded by the RPL11 gene.
40S ribosomal protein S13 is a protein that in humans is encoded by the RPS13 gene.
40S ribosomal protein S16' is a protein that in humans is encoded by the RPS16 gene.
40S ribosomal protein S4, Y isoform 1 is a protein that in humans is encoded by the RPS4Y1 gene.
40S ribosomal protein S14 is a protein that in humans is encoded by the RPS14 gene.
40S ribosomal protein S26 is a protein that in humans is encoded by the RPS26 gene.
40S ribosomal protein S10 is a protein that in humans is encoded by the RPS10 gene.
40S ribosomal protein S17 is a protein that in humans is encoded by the RPS17 gene.
60S ribosomal protein L35a is a protein that in humans is encoded by the RPL35A gene.
40S ribosomal protein S20 is a protein that in humans is encoded by the RPS20 gene.
40S ribosomal protein S18 is a protein that in humans is encoded by the RPS18 gene.
40S ribosomal protein S29 is a protein that in humans is encoded by the RPS29 gene.
40S ribosomal protein S12 is a protein that in humans is encoded by the RPS12 gene.
60S ribosomal protein L38 is a protein that in humans is encoded by the RPL38 gene.
Ribosomopathies are diseases caused by abnormalities in the structure or function of ribosomal component proteins or rRNA genes, or other genes whose products are involved in ribosome biogenesis.