RPS19 (ribosomal protein S19)

2003-06-01  

Identity

HGNC
LOCATION
19q13.2
LOCUSID
ALIAS
DBA,DBA1,LOH19CR1,S19,eS19
FUSION GENES

Other Information

Locus ID:

NCBI: 6223
MIM: 603474
HGNC: 10402
Ensembl: ENSG00000105372

Variants:

dbSNP: 6223
ClinVar: 6223
TCGA: ENSG00000105372
COSMIC: RPS19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105372ENST00000221975A0A075B6E2
ENSG00000105372ENST00000593863P39019
ENSG00000105372ENST00000593863B0ZBD0
ENSG00000105372ENST00000598261M0QYF7
ENSG00000105372ENST00000598399M0R2L9
ENSG00000105372ENST00000598742P39019
ENSG00000105372ENST00000598742B0ZBD0
ENSG00000105372ENST00000600467P39019
ENSG00000105372ENST00000600467B0ZBD0
ENSG00000105372ENST00000601492M0R140

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900
1000

Pathways

PathwaySourceExternal ID
RibosomeKEGGko03010
RibosomeKEGGhsa03010
Ribosome, eukaryotesKEGGhsa_M00177
Ribosome, eukaryotesKEGGM00177
Metabolism of proteinsREACTOMER-HSA-392499
TranslationREACTOMER-HSA-72766
Eukaryotic Translation InitiationREACTOMER-HSA-72613
Cap-dependent Translation InitiationREACTOMER-HSA-72737
Formation of a pool of free 40S subunitsREACTOMER-HSA-72689
Formation of the ternary complex, and subsequently, the 43S complexREACTOMER-HSA-72695
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43SREACTOMER-HSA-72662
Translation initiation complex formationREACTOMER-HSA-72649
Ribosomal scanning and start codon recognitionREACTOMER-HSA-72702
GTP hydrolysis and joining of the 60S ribosomal subunitREACTOMER-HSA-72706
L13a-mediated translational silencing of Ceruloplasmin expressionREACTOMER-HSA-156827
SRP-dependent cotranslational protein targeting to membraneREACTOMER-HSA-1799339
Eukaryotic Translation ElongationREACTOMER-HSA-156842
Peptide chain elongationREACTOMER-HSA-156902
Eukaryotic Translation TerminationREACTOMER-HSA-72764
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
Influenza InfectionREACTOMER-HSA-168254
Influenza Life CycleREACTOMER-HSA-168255
Influenza Viral RNA Transcription and ReplicationREACTOMER-HSA-168273
Viral mRNA TranslationREACTOMER-HSA-192823
Gene ExpressionREACTOMER-HSA-74160
Nonsense-Mediated Decay (NMD)REACTOMER-HSA-927802
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)REACTOMER-HSA-975957
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)REACTOMER-HSA-975956
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Selenoamino acid metabolismREACTOMER-HSA-2408522
Selenocysteine synthesisREACTOMER-HSA-2408557
rRNA processingREACTOMER-HSA-72312
Major pathway of rRNA processing in the nucleolus and cytosolREACTOMER-HSA-6791226
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

References

Pubmed IDYearTitleCitations
210684372011Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells.146
170530562007Impaired ribosome biogenesis in Diamond-Blackfan anemia.86
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
169905922007Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits.68
220459822011Ribosomal protein gene deletions in Diamond-Blackfan anemia.52
161598742005Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis.46
206061622010A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia.44
184122862008RPS19 mutations in patients with Diamond-Blackfan anemia.40
156267362005Deficiency of ribosomal protein S19 in CD34+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia.35
157559032005An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray.33

Citation

Dessen P

RPS19 (ribosomal protein S19)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/177/rps19