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    RPS19 ribosomal protein S19 [ Homo sapiens (human) ]

    Gene ID: 6223, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity.

    An RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity.
    Bhoopalan SV, Yen JS, Mayuranathan T, Mayberry KD, Yao Y, Lillo Osuna MA, Jang Y, Liyanage JS, Blanc L, Ellis SR, Wlodarski MW, Weiss MJ., Free PMC Article

    01/14/2023
    Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19.

    Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19.
    Takafuji S, Mori T, Nishimura N, Yamamoto N, Uemura S, Nozu K, Terui K, Toki T, Ito E, Muramatsu H, Takahashi Y, Matsuo M, Yamamura T, Iijima K.

    09/18/2021
    Dynamics of uS19 C-Terminal Tail during the Translation Elongation Cycle in Human Ribosomes.

    Dynamics of uS19 C-Terminal Tail during the Translation Elongation Cycle in Human Ribosomes.
    Bhaskar V, Graff-Meyer A, Schenk AD, Cavadini S, von Loeffelholz O, Natchiar SK, Artus-Revel CG, Hotz HR, Bretones G, Klaholz BP, Chao JA.

    05/1/2021
    Similar to the MIF-knockout mice, treatment with RPS19, but not the mutant RPS19, suppressed cisplatin-induced acute kidney injury (AKI). Mechanistically, we found that both genetic knockout and pharmacological inhibition of MIF protected against AKI by inactivating the CD74-nuclear factor kappaB (NF-kappaB) signaling.

    Blocking Macrophage Migration Inhibitory Factor Protects Against Cisplatin-Induced Acute Kidney Injury in Mice.
    Li J, Tang Y, Tang PMK, Lv J, Huang XR, Carlsson-Skwirut C, Da Costa L, Aspesi A, Fröhlich S, Szczęśniak P, Lacher P, Klug J, Meinhardt A, Fingerle-Rowson G, Gong R, Zheng Z, Xu A, Lan HY., Free PMC Article

    08/17/2019
    Patients with RPS19 mutations had the fewest number of defects, while patients with RPL5 had the greatest number of birth defects. This is the first study to show differences between Diamond-Blackfan anemia (DBA) genetic groups with regards to treatment.

    Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.
    Arbiv OA, Cuvelier G, Klaassen RJ, Fernandez CV, Robitaille N, Steele M, Breakey V, Abish S, Wu J, Sinha R, Silva M, Goodyear L, Jardine L, Lipton JH, Corriveau-Bourque C, Brossard J, Michon B, Ghemlas I, Waespe N, Zlateska B, Sung L, Cada M, Dror Y.

    08/3/2019
    Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations

    Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.
    Errichiello E, Vetro A, Mina T, Wischmeijer A, Berrino E, Carella M, Romagnoli M, Sacchini P, Venesio T, Zecca M, Zuffardi O., Free PMC Article

    08/18/2018
    Study shows that the depletion of RPS19 causes a reduction of 47S rRNA synthesis in a number of cell lines of different origins.

    Depletion of ribosomal protein S19 causes a reduction of rRNA synthesis.
    Juli G, Gismondi A, Monteleone V, Caldarola S, Iadevaia V, Aspesi A, Dianzani I, Proud CG, Loreni F., Free PMC Article

    04/21/2018
    The results show that RPS19, RPS21 or RPS24 are upregulated in malignant tissue and may serve as putative biomarkers for prostate cancer.

    Expression of ribosomal proteins in normal and cancerous human prostate tissue.
    Arthurs C, Murtaza BN, Thomson C, Dickens K, Henrique R, Patel HRH, Beltran M, Millar M, Thrasivoulou C, Ahmed A., Free PMC Article

    10/21/2017
    Study of genetic risk of prevalent hrHPV infections in Nigerian women found significant associations with SNPs on ribosomal protein gene S19 (RPS19) and Thymidylate Synthase gene (TYMS), in an allelic model. This risk remained significant, after adjusting for age, body mass index, smoking, age at menarche, age at sexual debut, lifetime total number of sexual partners and the total number of pregnancies.

    RPS19 and TYMS SNPs and Prevalent High Risk Human Papilloma Virus Infection in Nigerian Women.
    Famooto A, Almujtaba M, Dareng E, Akarolo-Anthony S, Ogbonna C, Offiong R, Olaniyan O, Wheeler CM, Doumatey A, Rotimi CN, Adeyemo A, Adebamowo CA., Free PMC Article

    10/14/2017
    Reducing RPS19 in tumor cells or blocking the C5a receptor 1-RPS19 interaction decreases RPS19-mediated immunosuppression, impairs tumor growth, and delays the development of tumors in a transgenic model of breast cancer

    The Ribosomal Protein S19 Suppresses Antitumor Immune Responses via the Complement C5a Receptor 1.
    Markiewski MM, Vadrevu SK, Sharma SK, Chintala NK, Ghouse S, Cho JH, Fairlie DP, Paterson Y, Astrinidis A, Karbowniczek M., Free PMC Article

    08/19/2017
    RPS19-downregulated erythroleukemia cells show reduced FLVCR1a and FLVCR1b mRNA levels associated with heme overload.

    Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia.
    Mercurio S, Aspesi A, Silengo L, Altruda F, Dianzani I, Chiabrando D.

    12/17/2016
    Loss of RPS19 expression is associated with Diamond-Blackfan anemia.

    Gene therapy cures the anemia and lethal bone marrow failure in a mouse model of RPS19-deficient Diamond-Blackfan anemia.
    Jaako P, Debnath S, Olsson K, Modlich U, Rothe M, Schambach A, Flygare J, Karlsson S., Free PMC Article

    10/17/2015
    Mutations R62W and R101H impair RPS19 ability to associate with the ribosome.

    Analysis of the interactome of ribosomal protein S19 mutants.
    Caterino M, Aspesi A, Pavesi E, Imperlini E, Pagnozzi D, Ingenito L, Santoro C, Dianzani I, Ruoppolo M.

    06/20/2015
    Data indicate that GATA1 transcription factor is downregulated in ribosomal protein S19 (RPS19)-deficient cells through upregulation of TNF-alpha and p38 MAPK.

    TNF-mediated inflammation represses GATA1 and activates p38 MAP kinase in RPS19-deficient hematopoietic progenitors.
    Bibikova E, Youn MY, Danilova N, Ono-Uruga Y, Konto-Ghiorghi Y, Ochoa R, Narla A, Glader B, Lin S, Sakamoto KM., Free PMC Article

    02/21/2015
    RPS19 mutation is associated with Diamond Blackfan Anemia.

    Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.
    Delaporta P, Sofocleous C, Stiakaki E, Polychronopoulou S, Economou M, Kossiva L, Kostaridou S, Kattamis A.

    02/7/2015
    A binding domain for RPS19 was identified and characterized in the N-terminus.

    Ribosomal protein S19-binding domain provides insights into hantavirus nucleocapsid protein-mediated translation initiation mechanism.
    Ganaie SS, Haque A, Cheng E, Bonny TS, Salim NN, Mir MA., Free PMC Article

    01/24/2015
    increase of autophagy in cells derived from DBA patients, in CD34+ erythrocyte progenitor cells with RPS19 knock down, in the red blood cells of zebrafish embryos with RP-deficiency, and in cells from patients with Shwachman-Diamond syndrome

    Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway.
    Heijnen HF, van Wijk R, Pereboom TC, Goos YJ, Seinen CW, van Oirschot BA, van Dooren R, Gastou M, Giles RH, van Solinge W, Kuijpers TW, Gazda HT, Bierings MB, Da Costa L, MacInnes AW., Free PMC Article

    12/20/2014
    levels of branched-chain aminotransferase-1 (BCAT1) transcripts are significantly decreased on the polysomes of both RPS19 and RPL11 cells and that translation of BCAT1 protein is especially impaired in cells with small RP gene mutations

    Translation of branched-chain aminotransferase-1 transcripts is impaired in cells haploinsufficient for ribosomal protein genes.
    Pereboom TC, Bondt A, Pallaki P, Klasson TD, Goos YJ, Essers PB, Groot Koerkamp MJ, Gazda HT, Holstege FC, Costa LD, MacInnes AW.

    07/12/2014
    High frequency of RPS19 gene deletion is associated with Italian Diamond-Blackfan anemia.

    High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.
    Quarello P, Garelli E, Brusco A, Carando A, Mancini C, Pappi P, Vinti L, Svahn J, Dianzani I, Ramenghi U., Free PMC Article

    12/14/2013
    RPS19 mutations induced a decrease in proliferation of progenitor cells, but the terminal erythroid differentiation was normal with little or no apoptosis.

    Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro.
    Moniz H, Gastou M, Leblanc T, Hurtaud C, Crétien A, Lécluse Y, Raslova H, Larghero J, Croisille L, Faubladier M, Bluteau O, Lordier L, Tchernia G, Vainchenker W, Mohandas N, Da Costa L, DBA Group of Société d'Hématologie et d'Immunologie Pédiatrique-SHIP., Free PMC Article

    11/17/2012
    Single nucleotide polymorphisms in the RPS19 and RPS19 is associated with HPV persistence and cervical precancer/cancer.

    Single nucleotide polymorphisms in the PRDX3 and RPS19 and risk of HPV persistence and cervical precancer/cancer.
    Safaeian M, Hildesheim A, Gonzalez P, Yu K, Porras C, Li Q, Rodriguez AC, Sherman ME, Schiffman M, Wacholder S, Burk R, Herrero R, Burdette L, Chanock SJ, Wang SS., Free PMC Article

    08/25/2012
    Data show 1 proband with an RPL5 deletion, 1 patient with an RPL35A deletion, 3 with RPS17 deletions, and 1 with an RPS19 deletion.

    Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia.
    Kuramitsu M, Sato-Otsubo A, Morio T, Takagi M, Toki T, Terui K, Wang R, Kanno H, Ohga S, Ohara A, Kojima S, Kitoh T, Goi K, Kudo K, Matsubayashi T, Mizue N, Ozeki M, Masumi A, Momose H, Takizawa K, Mizukami T, Yamaguchi K, Ogawa S, Ito E, Hamaguchi I.

    05/26/2012
    Studies identified deletions at known Diamond-Blackfan anemia (DBA)-related ribosomal protein gene loci in 17% (9 of 51) of patients without an identifiable mutation, including RPS19, RPS17, RPS26, and RPL35A.

    Ribosomal protein gene deletions in Diamond-Blackfan anemia.
    Farrar JE, Vlachos A, Atsidaftos E, Carlson-Donohoe H, Markello TC, Arceci RJ, Ellis SR, Lipton JM, Bodine DM., Free PMC Article

    03/24/2012
    the monocyte C5aR selectively activates the classical pathway with the binding of C5a and the alternative pathway with the binding of C5a/RP S19.

    The role of the ribosomal protein S19 C-terminus in altering the chemotaxis of leucocytes by causing functional differences in the C5a receptor response.
    Nishiura H, Zhao R, Yamamoto T.

    12/24/2011
    The RPS19 gene uses a broad range of transcriptional start sites and a short 5'UTR is associated with increased levels of RPS19.

    5'UTR variants of ribosomal protein S19 transcript determine translational efficiency: implications for Diamond-Blackfan anemia and tissue variability.
    Badhai J, Schuster J, Gidlöf O, Dahl N., Free PMC Article

    07/9/2011
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