RPS19

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]

Full Name

Ribosomal Protein S19

Function

Required for pre-rRNA processing and maturation of 40S ribosomal subunits.

Biological Process

Biological Process antimicrobial humoral immune response mediated by antimicrobial peptideManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process cytoplasmic translation1 PublicationIC:FlyBase
Biological Process defense response to Gram-negative bacteriumManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process erythrocyte differentiationManual Assertion Based On ExperimentIMP:HGNC-UCL
Biological Process killing of cells of another organismManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process maturation of SSU-rRNAManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)Manual Assertion Based On ExperimentIMP:UniProtKB
Biological Process monocyte chemotaxisManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process negative regulation of respiratory burst involved in inflammatory responseManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process nucleolus organizationManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process positive regulation of respiratory burst involved in inflammatory responseManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process response to extracellular stimulusManual Assertion Based On ExperimentTAS:HGNC-UCL
Biological Process ribosomal small subunit assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process ribosomal small subunit biogenesisManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process rRNA processingManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process translation1 PublicationIC:UniProtKB

Cellular Location

Nucleus
Located more specifically in the nucleoli.

Involvement in disease

Diamond-Blackfan anemia 1 (DBA1):
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 developing leukemia. 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.