Dec 25, 2024 · RPS19 (Ribosomal Protein S19) is a Protein Coding gene. Diseases associated with RPS19 include Diamond-Blackfan Anemia 1 and Diamond-Blackfan Anemia. Among its related pathways are Peptide chain elongation and Nervous system development. Gene Ontology (GO) annotations related to this gene include RNA binding and protein kinase binding.

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.

The RPS19 gene provides instructions for making one of approximately 80 different ribosomal proteins, which are components of cellular structures called ribosomes. Learn about this gene and related health conditions.

Oct 10, 2024 · Diamond Blackfan anemia (DBA) is caused by germline heterozygous loss-of-function pathogenic variants (PVs) in ribosomal protein (RP) genes, most commonly RPS19 and RPL5. In addition to red cell aplasia, individuals with DBA are at increased risk of various cancers.

Sep 21, 2006 · Diamond-Blackfan anemia (DBA) typically presents with red blood cell aplasia that usually manifests in the first year of life. The only gene currently known to be mutated in DBA encodes ribosomal protein S19 (RPS19). Previous studies have shown that the yeast RPS19 protein is required for a specific step in the maturation of 40S ribosomal subunits.

Oct 13, 2016 · We found that the depletion of RPS19 causes a reduction of 47S rRNA in a number of cell lines of different origins. The lower level of rRNA precursors reflects decreased recruitment of Pol I onto...

Commonly, mutated RPS19 is linked to dysregulation of deltaNp63 and p53 , defects in 18S ribosomal RNA synthesis, assembly of the small ribosomal subunit, ribosome maturation [106, 107, 108], and increased proteasome activity [109, 110]. Here, we describe our studies on the highly mutated gene RPS19 and its coded protein, eS19. We performed ...

RPS19 is a ribosomal protein linked to Diamond-Blackfan anemia; Diamond-Blackfan anemia missense mutations affect the assembly of ribosomal protein S19 into the ribosome; RPS19 silencing decreases the proliferative capacity of hematopoietic progenitors and leads to a defect in erythroid development

Jan 5, 2025 · Title: An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity. Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19.

RPS19 (ribosomal protein S19), a component of the 40S small ribosomal subunit, has recently been identified to bind the pro-inflammatory cytokine macrophage MIF (migration inhibitory factor). In vitro experiments identify RPS19 as the first endogenous MIF inhibitor by blocking the binding of …