RPS19 Antibody – Rabbit Polyclonal

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

Biological Process: SRP-dependent cotranslational protein targeting to membrane; translation; viral reproduction; viral infectious cycle; translational termination; positive regulation of cell motility; nucleolus organization and biogenesis; maturation of SSU-rRNA; monocyte chemotaxis; ribosomal small subunit biogenesis and assembly; 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; translational initiation; mRNA catabolic process, nonsense-mediated decay; erythrocyte differentiation; ribosomal small subunit assembly and maintenance; gene expression; viral transcription; rRNA processing; protein tetramerization

Disease: Diamond-blackfan Anemia 1