Target intelligence / Profile preview

40S ribosomal protein S19 (RPS19)

Target
RPS19
Molecular classification
Ribosomal protein, Ribosome small subunit component, Other
01

Overview

40S ribosomal protein S19 (RPS19) is a highly conserved ribosomal protein that forms part of the small (40S) subunit of the eukaryotic ribosome. RPS19 is essential for the assembly, structural stability, and function of the small ribosomal subunit, including facilitating pre-rRNA processing and export of the 40S subunit from the nucleus to the cytoplasm. It interacts mainly with 18S ribosomal RNA and other ribosomal proteins to form the ribosome. Mutations in the RPS19 gene are the most common cause of Diamond-Blackfan anemia, a congenital disorder of erythroid lineage bone marrow failure and various developmental abnormalities. Some evidence suggests RPS19 may also participate in cell cycle regulation, apoptosis, and is overexpressed in some cancers (e.g., colon carcinoma); additionally, it has been observed to interact with factors such as basic fibroblast growth factor and may play an extra-ribosomal role, including involvement in immune signaling.

Other names
Ribosomal protein S19Small ribosomal subunit protein eS19eS19S19DBA1Diamond-Blackfan anemia proteinLoss of heterozygosity on chromosome 19, region 1 (LOH19CR1)
02

Biological functions

Ribosome assemblyPre-rRNA processingProtein translation/protein synthesisRibosomal subunit export (nucleus to cytoplasm)Regulation of cell divisionApoptosis
03

Disease associations

Congenital anemia (Diamond-Blackfan anemia)Possible role in cancer (overexpressed in colon carcinoma)Other
04

Safety considerations

Mutations cause ribosomopathies (e.g., Diamond-Blackfan anemia), manifesting as bone marrow failure, developmental abnormalities, and anemiaLoss-of-function mutations are generally lethal when homozygous
05

Biomarkers

RPS19 gene mutation (for diagnosis of Diamond-Blackfan anemia)RPS19 protein expression level (potentially in some cancers)

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