Aliases for RPS19 Gene
External Ids for RPS19 Gene
Previous GeneCards Identifiers for RPS19 Gene
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]
GeneCards Summary for RPS19 Gene
RPS19 (Ribosomal Protein S19) is a Protein Coding gene. Diseases associated with RPS19 include diamond-blackfan anemia 1 and rps19-related diamond-blackfan anemia. Among its related pathways are Disease and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include protein homodimerization activity and structural constituent of ribosome.
UniProtKB/Swiss-Prot for RPS19 Gene
Required for pre-rRNA processing and maturation of 40S ribosomal subunits.