RPS19 Human Recombinant Protein

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. 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. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

RPS19: Required for pre-rRNA processing and maturation of 40S ribosomal subunits. Defects in RPS19 are the cause of Diamond-Blackfan anemia type 1 (DBA1). DBA1 is a form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. Belongs to the ribosomal protein S19e family.

Protein type: Translation; Ribosomal

Chromosomal Location of Human Ortholog: 19q13.2

Cellular Component: focal adhesion; membrane; cytoplasm; nucleolus; ribosome; cytosol

Molecular Function: protein binding; protein homodimerization activity; fibroblast growth factor binding; structural constituent of ribosome; protein kinase binding

Biological Process: SRP-dependent cotranslational protein targeting to membrane; viral reproduction; translation; positive regulation of cell motility; viral infectious cycle; translational termination; nucleolus organization and biogenesis; maturation of SSU-rRNA; ribosomal small subunit biogenesis and assembly; monocyte chemotaxis; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); translational elongation; cellular protein metabolic process; response to extracellular stimulus; mRNA catabolic process, nonsense-mediated decay; translational initiation; erythrocyte differentiation; ribosomal small subunit assembly and maintenance; gene expression; viral transcription; protein tetramerization; rRNA processing

Disease: Diamond-blackfan Anemia 1