RPL17 (ribosomal protein L17)

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Gene Gene information from NCBI Gene database.
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Entrez ID 6139
Gene name Ribosomal protein L17
Gene symbol RPL17
Synonyms (NCBI Gene)
DBA22L17PD-1RPL23uL22
Chromosome 18
Chromosome location 18q21.1
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 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal pro
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT439744 hsa-miR-106b-5p HITS-CLIP 22473208
MIRT439742 hsa-miR-20a-5p HITS-CLIP 22473208
MIRT439744 hsa-miR-106b-5p HITS-CLIP 22473208
MIRT726689 hsa-miR-17-5p HITS-CLIP 22473208
MIRT726687 hsa-miR-20b-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0002181 Process Cytoplasmic translation IBA
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 IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
603661 10307 ENSG00000265681
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P18621
Protein name Large ribosomal subunit protein uL22 (60S ribosomal protein L17) (60S ribosomal protein L23) (PD-1)
Protein function Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:32669547). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636399, PubMed:32669
PDB 4UG0 , 4V6X , 5A8L , 5AJ0 , 5LKS , 5T2C , 6IP5 , 6IP6 , 6IP8 , 6LQM , 6LSR , 6LSS , 6LU8 , 6OLE , 6OLF , 6OLG , 6OLI , 6OLZ , 6OM0 , 6OM7 , 6QZP , 6W6L , 6XA1 , 6Y0G , 6Y2L , 6Y57 , 6Y6X , 6Z6L , 6Z6M , 6Z6N , 6ZM7 , 6ZME , 6ZMI , 6ZMO , 7BHP , 7F5S , 7OW7 , 7QVP , 7XNX , 7XNY , 8A3D , 8FKP , 8FKQ , 8FKR , 8FKS , 8FKT , 8FKU , 8FKV , 8FKW , 8FKX , 8FKY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00237 Ribosomal_L22 17 → 151 Ribosomal protein L22p/L17e Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in pancreas, lung, colon, cystic duct, gall bladder, kidney and liver. Expressed at high levels in the well differentiated pancreatic tumor cell lines HPAF, COLO 357 and Capan-1, the moderately differentiated pancreatic tumor
Sequence 
MVRYSLDPENPTKSCKSRGSNLRVHFKNTRETAQAIKGMHIRKATKYLKDVTLQKQCVPF
RRYNGGVGRCAQAKQWGWTQGRWPKKSAEFLLHMLKNAESNAELKGLDVDSLVIEHIQVN
KAPKMRRRTYRAHGRINPYMSSPCHIEMILTEKEQIVPKPEEEVAQKKKISQKKLKKQKL
MARE
Sequence length 184
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Ribosome L13a-mediated translational silencing of Ceruloplasmin expression
Coronavirus disease - COVID-19 SRP-dependent cotranslational protein targeting to membrane
  Viral mRNA Translation
  Major pathway of rRNA processing in the nucleolus and cytosol
  Formation of a pool of free 40S subunits
  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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (7)
Phenotype Name Clinical Significance Source Reference Evidence Score
ANEMIA, MACROCYTIC — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL EPICANTHUS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diamond-Blackfan anemia Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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RPL17-C18orf32 3 shared diseasesMacrocytic anemia, Congenital epicanthus, Pancytopenia 2 shared pathwaysRibosome, Coronavirus disease - COVID-19 4 shared evidence sourcesDisgenet (Macrocytic anemia), Disgenet (Attention deficit hyperactivity disorder), Disgenet (Congenital epicanthus), Disgenet (Pancytopenia) Related via 3 shared diseases including Macrocytic anemia, Congenital epicanthus — evidence mostly Disgenet. RPL11 1 shared diseaseDiamond-blackfan anemia 10 shared pathwaysRibosome, Coronavirus disease - COVID-19, Major pathway of rRNA processing in the nucleolus and cytosol, L13a-mediated translational silencing of Ceruloplasmin expression, Formation of a pool of free 40S subunits, GTP hydrolysis and joining of the 60S ribosomal subunit, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC), SRP-dependent cotranslational protein targeting to membrane, Viral mRNA Translation, Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) 1 shared evidence sourceClinVar (Diamond-blackfan anemia) Related via 10 shared pathways including Ribosome, Coronavirus disease - COVID-19 — evidence mostly ClinVar. RPL15 1 shared diseaseDiamond-blackfan anemia 10 shared pathwaysRibosome, Coronavirus disease - COVID-19, Major pathway of rRNA processing in the nucleolus and cytosol, L13a-mediated translational silencing of Ceruloplasmin expression, Formation of a pool of free 40S subunits, GTP hydrolysis and joining of the 60S ribosomal subunit, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC), SRP-dependent cotranslational protein targeting to membrane, Viral mRNA Translation, Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) 1 shared evidence sourceClinVar (Diamond-blackfan anemia) Related via 10 shared pathways including Ribosome, Coronavirus disease - COVID-19 — evidence mostly ClinVar. RPL18 1 shared diseaseDiamond-blackfan anemia 10 shared pathwaysRibosome, Coronavirus disease - COVID-19, Major pathway of rRNA processing in the nucleolus and cytosol, L13a-mediated translational silencing of Ceruloplasmin expression, Formation of a pool of free 40S subunits, GTP hydrolysis and joining of the 60S ribosomal subunit, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC), SRP-dependent cotranslational protein targeting to membrane, Viral mRNA Translation, Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) 1 shared evidence sourceClinVar (Diamond-blackfan anemia) Related via 10 shared pathways including Ribosome, Coronavirus disease - COVID-19 — evidence mostly ClinVar. RPL26 1 shared diseaseDiamond-blackfan anemia 10 shared pathwaysRibosome, Coronavirus disease - COVID-19, Major pathway of rRNA processing in the nucleolus and cytosol, L13a-mediated translational silencing of Ceruloplasmin expression, Formation of a pool of free 40S subunits, GTP hydrolysis and joining of the 60S ribosomal subunit, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC), SRP-dependent cotranslational protein targeting to membrane, Viral mRNA Translation, Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) 1 shared evidence sourceClinVar (Diamond-blackfan anemia) Related via 10 shared pathways including Ribosome, Coronavirus disease - COVID-19 — evidence mostly ClinVar.
Stomach neoplasms Linked via 2 of 5 related genesRPL15, RPL18 Glycosylphosphatidylinositol biosynthesis defect Linked via 1 of 5 related genesRPL17-C18orf32 Anemia Linked via 1 of 5 related genesRPL11 Prostatic neoplasms Linked via 1 of 5 related genesRPL11