RPS17 (ribosomal protein S17)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6218
Gene name Ribosomal protein S17
Gene symbol RPS17
Synonyms (NCBI Gene)
DBA4RPS17LRPS17L1RPS17L2S17eS17
Chromosome 15
Chromosome location 15q25.2
Summary Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of four RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs6991 A>C,G Pathogenic, uncertain-significance Stop gained, non coding transcript variant, coding sequence variant, synonymous variant
rs116840811 A>C Pathogenic Initiator codon variant, non coding transcript variant, missense variant
rs116840812 CT>- Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
73
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT051166 hsa-miR-16-5p CLASH 23622248
MIRT049945 hsa-miR-30a-5p CLASH 23622248
MIRT048036 hsa-miR-148a-3p CLASH 23622248
MIRT047810 hsa-miR-30d-5p CLASH 23622248
MIRT046624 hsa-miR-222-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0002181 Process Cytoplasmic translation IC 23636399
GO:0002181 Process Cytoplasmic translation NAS 25901680
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003735 Function Structural constituent of ribosome HDA 15883184
GO:0003735 Function Structural constituent of ribosome IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
180472 10397 ENSG00000182774
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08708
Protein name Small ribosomal subunit protein eS17 (40S ribosomal protein S17)
Protein function Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Part of the small subunit (SSU) processome, first precursor of
PDB 4UG0 , 4V6X , 5A2Q , 5AJ0 , 5FLX , 5LKS , 5OA3 , 5T2C , 5VYC , 6FEC , 6G18 , 6G4S , 6G4W , 6G51 , 6G53 , 6G5H , 6G5I , 6IP5 , 6IP6 , 6IP8 , 6OLE , 6OLF , 6OLG , 6OLI , 6OLZ , 6OM0 , 6OM7 , 6QZP , 6XA1 , 6Y0G , 6Y2L , 6Y57 , 6YBD , 6YBS , 6YBW , 6Z6L , 6Z6M , 6Z6N , 6ZLW , 6ZM7 , 6ZME , 6ZMI , 6ZMO , 6ZMT , 6ZMW , 6ZN5 , 6ZOJ , 6ZOK , 6ZOL , 6ZON , 6ZP4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00833 Ribosomal_S17e 1 → 122 Ribosomal S17 Family
Sequence
Sequence length 135
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Ribosome
Coronavirus disease - COVID-19 		  L13a-mediated translational silencing of Ceruloplasmin expression
SRP-dependent cotranslational protein targeting to membrane
Viral mRNA Translation
Major pathway of rRNA processing in the nucleolus and cytosol
Translation initiation complex formation
Formation of a pool of free 40S subunits
Formation of the ternary complex, and subsequently, the 43S complex
Ribosomal scanning and start codon recognition
GTP hydrolysis and joining of the 60S ribosomal subunit
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Diamond-Blackfan anemia Pathogenic; Likely pathogenic rs2548306430, rs2548306778, rs116840811 RCV002360148
RCV002417107
RCV002433453
Diamond-Blackfan anemia 4 Pathogenic; Likely pathogenic rs6991, rs2548306778, rs2548305568, rs116840811, rs116840812 RCV000087020
RCV005869826
RCV003111527
RCV000013873
RCV000013874
Show/Hide Text Mining Associations (18)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 34225819
Amyotrophic Lateral Sclerosis Associate 28328930
Anemia Associate 25853866
Anemia Diamond Blackfan Associate 18535205, 19061985, 19765279, 19773262, 20116044, 20378560, 20921022, 22045982, 22262766, 22689679, 23812780, 24675553, 25853866, 25946618
Bone Marrow Diseases Associate 25853866
Colonic Neoplasms Associate 35712285
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 19773262
COVID 19 Associate 35558576
Growth Disorders Associate 22262766
Hematologic Neoplasms Associate 8387429