RPS7 Antibody – Mouse Monoclonal

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 S7E 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. [provided by RefSeq, Jul 2008]

RPS7: Required for rRNA maturation. Defects in RPS7 are the cause of Diamond-Blackfan anemia type 8 (DBA8). DBA8 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 S7e family.

Protein type: Translation; Ribosomal

Chromosomal Location of Human Ortholog: 2p25

Cellular Component: small subunit processome; focal adhesion; membrane; cytoplasm; nucleolus; ribosome; microtubule organizing center; cytosol; nucleus; ribonucleoprotein complex

Molecular Function: protein binding; structural constituent of ribosome; RNA binding

Biological Process: SRP-dependent cotranslational protein targeting to membrane; viral reproduction; translation; viral infectious cycle; translational termination; ribosomal small subunit biogenesis and assembly; cellular protein metabolic process; translational elongation; mRNA catabolic process, nonsense-mediated decay; translational initiation; gene expression; viral transcription; rRNA processing

Disease: Diamond-blackfan Anemia 8