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].
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Singh, Goldberg, Henson, Husain-Krautter, Nihrane, Blanc, Ellis, Lipton, Liu: "p53-Independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5." dans: PLoS ONE, Vol. 9, Issue 2, pp. e89098, (2014) (PubMed).
Aspesi, Pavesi, Robotti, Crescitelli, Boria, Avondo, Moniz, Da Costa, Mohandas, Roncaglia, Ramenghi, Ronchi, Gustincich, Merlin, Marengo, Ellis, Follenzi, Santoro, Dianzani: "Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia." dans: Gene, Vol. 545, Issue 2, pp. 282-9, (2014) (PubMed).
Caterino, Corbo, Imperlini, Armiraglio, Pavesi, Aspesi, Loreni, Dianzani, Ruoppolo: "Differential proteomic analysis in human cells subjected to ribosomal stress." dans: Proteomics, Vol. 13, Issue 7, pp. 1220-7, (2013) (PubMed).
Sezgin, Henson, Nihrane, Singh, Wattenberg, Alard, Ellis, Liu: "Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS." dans: Pediatric blood & cancer, Vol. 60, Issue 2, pp. 281-6, (2012) (PubMed).
Rey, Duffy, Brown, Kennedy, Dick, Dror, Tailor: "Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis." dans: Haematologica, Vol. 93, Issue 11, pp. 1617-26, (2008) (PubMed).
Léger-Silvestre, Caffrey, Dawaliby, Alvarez-Arias, Gas, Bertolone, Gleizes, Ellis: "Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis." dans: The Journal of biological chemistry, Vol. 280, Issue 46, pp. 38177-85, (2005) (PubMed).
Synonymes et noms alternatifs relatifs à RPS19
30S ribosomal protein S19 (rps19), 40S ribosomal protein S19 (rps-19), ribosomal protein S19 (RPS19), ribosomal protein S19 (Rps19), DBA, DBA1, Dsk3, S19