Gene: RPS19

Alternate names for this Gene: DBA|DBA1|LOH19CR1|S19|eS19

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: ribosomal protein S19

Type of Gene: protein-coding

rs104894717 in RPS19 gene and Diamond-Blackfan Anemia 1 PMID 12750732 2003 Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene.

PMID 17517689 2007 Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.

PMID 11112378 2000 Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.

PMID 18412286 2008 RPS19 mutations in patients with Diamond-Blackfan anemia.

PMID 12586610 2003 Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.

PMID 10590074 1999 Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.

PMID 9988267 1999 The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

PMID 15384984 2004 RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.