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Ribosomal protein S19

RPS19, ribosomal protein S19
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] (from NCBI)
Top mentioned proteins: S19, CAN, ACID, RPS17, ribosomal protein L11
Papers using RPS19 antibodies
Structural determinants of BRCA1 translational regulation.
Supplier
Ellis Steven, In PLoS ONE, 2001
... RPS19 mRNA including a 35 nt (SHORT), 382 nt (INTERMEDIATE) and 467 nt (LONG) 5′UTR, respectively, were introduced into the fluorescent reporter vector pAcGFP-N1 (Clontech) under the CMV promoter ...
Papers on RPS19
The evolutionary conservation of rps3 introns and rps19-rps3-rpl16 gene cluster in Adiantum capillus-veneris mitochondria.
New
Regina et al., Cosenza, Italy. In Curr Genet, Sep 2015
This study reports that the gene for the ribosomal protein S3 (rps3) is preserved and physically clustered to an upstream rps19 and a downstream overlapping rpl16 locus in the mitochondrial DNA of the true fern Adiantum capillus-veneris L. Sequence analysis also revealed that the rps3 gene is interrupted by two cis-splicing group II introns, like the counterpart in lycopod and gymnosperm representatives.
[Molecular mechanisms underlying the pathology of Diamond-Blackfan anemia].
New
Ito et al., Hirosaki, Japan. In Rinsho Ketsueki, Jul 2015
In DBA, mutations or large deletions in RP genes include RPS7, RPS10, RPS17, RPS19, RPS24, RPS26, RPL5, RPL11, RPL26 and RPL35A.
Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia.
Mason et al., Philadelphia, United States. In Plos One, 2014
We generated induced pluripotent stem cells from DBA patients carrying RPS19 or RPL5 mutations.
Reference genes for reverse transcription quantitative PCR in canine brain tissue.
Penning et al., Utrecht, Netherlands. In Bmc Res Notes, 2014
RESULTS: Following the minimum information for publication of quantitative real-time PCR experiments precise guidelines, the expression of ten frequently used reference genes, namely YWHAZ, HMBS, B2M, SDHA, GAPDH, HPRT, RPL13A, RPS5, RPS19 and GUSB was evaluated in seven brain regions (frontal lobe, parietal lobe, occipital lobe, temporal lobe, thalamus, hippocampus and cerebellum) and whole brain of healthy dogs.
Analysis of the Complete Chloroplast Genome of a Medicinal Plant, Dianthus superbus var. longicalyncinus, from a Comparative Genomics Perspective.
Park et al., Kyŏngsan, South Korea. In Plos One, 2014
The pseudogene ribosomal protein subunit S19 (rps19) was identified at the IRA/LSC junction, but was not present in the cp genome of other Caryophyllaceae family members.
GATA1 and PU.1 Bind to Ribosomal Protein Genes in Erythroid Cells: Implications for Ribosomopathies.
Vizirianakis et al., Thessaloníki, Greece. In Plos One, 2014
By applying EMSA and ChIP methodologies in mouse erythroleukemia cells we show that GATA1 and PU.1 bind in vitro and in vivo the proximal promoter region of the RPS19 gene which is frequently mutated in Diamond-Blackfan Anemia.
Altered translation of GATA1 in Diamond-Blackfan anemia.
Impact
Sankaran et al., Boston, United States. In Nat Med, 2014
In primary hematopoietic cells from patients with mutations in RPS19, encoding ribosomal protein S19, the amplitude of a transcriptional signature of GATA1 target genes was globally and specifically reduced, indicating that the activity, but not the mRNA level, of GATA1 is decreased in patients with DBA associated with mutations affecting ribosomal proteins.
Activation of the mTOR pathway by the amino acid (L)-leucine in the 5q- syndrome and other ribosomopathies.
Review
Wainscoat et al., Oxford, United Kingdom. In Adv Biol Regul, 2013
The 5q- syndrome and DBA are disorders of aberrant ribosome biogenesis (ribosomopathies) and haploinsufficiency of the ribosomal protein genes RPS14 and RPS19, respectively, underlies the anemia found in these disorders.
The alternative C5a receptor function.
Review
Nishiura, Kumamoto, Japan. In Adv Exp Med Biol, 2012
We have demonstrated that C5aR accepts not only C5a but also ribosomal protein S19 (RP S19) oligomers.
Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia.
GeneRIF
Hamaguchi et al., Tokyo, Japan. In Blood, 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.
Ribosomal protein gene deletions in Diamond-Blackfan anemia.
GeneRIF
Bodine et al., Baltimore, United States. In Blood, 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.
Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia.
GeneRIF
Karlsson et al., Lund, Sweden. In Blood, 2012
We report the generation of mouse models for RPS19-deficient Diamond Blackfan anemia using transgenic RNA interference that allows an inducible and graded down-regulation of Rps19.
Single nucleotide polymorphisms in the PRDX3 and RPS19 and risk of HPV persistence and cervical precancer/cancer.
GeneRIF
Wang et al., Bethesda, United States. In Plos One, 2011
Single nucleotide polymorphisms in the RPS19 and RPS19 is associated with HPV persistence and cervical precancer/cancer.
Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro.
GeneRIF
DBA Group of Société d'Hématologie et d'Immunologie Pédiatrique-SHIP et al., Villejuif, France. In Cell Death Dis, 2011
RPS19 mutations induced a decrease in proliferation of progenitor cells, but the terminal erythroid differentiation was normal with little or no apoptosis.
Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.
Review
Dahl et al., Baltimore, United States. In Semin Hematol, 2011
Recent advances in identifying the genetic abnormalities underlying DBA have demonstrated involvement of genes encoding both large (RPL) and small (RPS) ribosomal subunit proteins, including mutations of RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 in 50% to 60% of affected patients.
Diamond Blackfan anemia: ribosomal proteins going rogue.
Review
Gleizes et al., Louisville, United States. In Semin Hematol, 2011
Within the decade following the demonstration that mutations in the RPS19 gene can lead to Diamond-Blackfan anemia (DBA), this disease has become a paradigm for an emerging group of pathologies linked to defects in ribosome biogenesis.
[Diamond-Blackfan anemia confirmed by RPS19 gene mutation analysis: a case study and literature review of Korean patients].
Review
Kim et al., Seoul, South Korea. In Korean J Lab Med, 2010
Diamond-Blackfan anemia (DBA) is a rare congenital erythroid hypoplastic anemia that usually presents early in infancy and is inherited in up to 45% of cases.
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects.
Impact
GeneRIF
Barsh et al., Stanford, United States. In Nat Genet, 2008
Study reports two mouse dark skin (Dsk) loci caused by mutations in Rps19 (ribosomal protein S19) and Rps20 (ribosomal protein S20).
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.
Impact
Dahl et al., Uppsala, Sweden. In Nat Genet, 1999
Furthermore, we identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including nonsense, frameshift, splice site and missense mutations, as well as two intragenic deletions.
Ribosomal heterogeneity from chromatin diminution in Ascaris lumbricoides.
Impact
Müller et al., Fribourg, Switzerland. In Science, 1994
In oocytes, the germline RpS19 homolog (RpS19G) predominates.
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