RPS17 (ribosomal protein S17)

2014-11-01  

Identity

HGNC
LOCATION
15q25.2
LOCUSID
ALIAS
DBA4,RPS17L,RPS17L1,RPS17L2,S17
FUSION GENES

Other Information

Locus ID:

NCBI: 6218
MIM: 180472
HGNC: 10397
Ensembl: ENSG00000182774

Variants:

dbSNP: 6218
ClinVar: 6218
TCGA: ENSG00000182774
COSMIC: RPS17

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182774ENST00000558397A0A075B716
ENSG00000182774ENST00000561068H0YN73
ENSG00000182774ENST00000561157H0YN88
ENSG00000182774ENST00000647841P08708

Expression (GTEx)

0
500
1000
1500

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
176472922007Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.99
223982902012Adaptation of a genotype 3 hepatitis E virus to efficient growth in cell culture depends on an inserted human gene segment acquired by recombination.59
220459822011Ribosomal protein gene deletions in Diamond-Blackfan anemia.52
222627662012Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia.17
203785602010Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.16
258538662015Identification and fine mapping of nuclear and nucleolar localization signals within the human ribosomal protein S17.4

Citation

Dessen P

RPS17 (ribosomal protein S17)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72858/rps17