Gene Gene information from NCBI Gene database.
Entrez ID 6125
Gene name Ribosomal protein L5
Gene symbol RPL5
Synonyms (NCBI Gene)
L5MSTP030PPP1R135uL18
Chromosome 1
Chromosome location 1p22.1
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 four RNA species and approximately 80 structurally distinct proteins. This gene encodes a member of
miRNA miRNA information provided by mirtarbase database.
59
miRTarBase ID miRNA Experiments Reference
MIRT031631 hsa-miR-16-5p Proteomics 18668040
MIRT048387 hsa-miR-100-5p CLASH 23622248
MIRT047180 hsa-miR-182-5p CLASH 23622248
MIRT045009 hsa-miR-186-5p CLASH 23622248
MIRT045009 hsa-miR-186-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
61
GO ID Ontology Definition Evidence Reference
GO:0000027 Process Ribosomal large subunit assembly IBA
GO:0000027 Process Ribosomal large subunit assembly IMP 24120868
GO:0002181 Process Cytoplasmic translation IC 23636399
GO:0002181 Process Cytoplasmic translation NAS 25901680
GO:0003723 Function RNA binding HDA 22658674, 22681889
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603634 10360 ENSG00000122406
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P46777
Protein name Large ribosomal subunit protein uL18 (60S ribosomal protein L5)
Protein function Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell. The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-
PDB 4UG0 , 4V6X , 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 , 8BGU , 8FL0 , 8FL2 , 8FL3 , 8FL4 , 8FL6 , 8FL7 , 8FL9 , 8FLA , 8FLB , 8FLC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17144 Ribosomal_L5e 14 176 Ribosomal large subunit proteins 60S L5, and 50S L18 Family
PF14204 Ribosomal_L18_c 192 283 Ribosomal L18 C-terminal region Domain
Sequence
Sequence length 297
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
419
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Diamond-Blackfan anemia Likely pathogenic; Pathogenic rs1686989669, rs2100672432, rs2100677043, rs587777117, rs2100685111, rs2100685034, rs2100676852, rs2100688383, rs2524457676, rs138710531, rs1190811369, rs148673599, rs2524462266, rs2524447751, rs2524448276
View all (31 more)
RCV001377843
RCV001380814
RCV001387662
RCV002444558
RCV001971307
RCV002035339
RCV002045961
RCV001924534
RCV002355543
RCV002375646
RCV002333052
RCV002340604
RCV002353824
RCV002360149
RCV002434901
RCV002371533
RCV002385015
RCV002404073
RCV002428225
RCV002428991
RCV002428467
RCV005098433
RCV003072754
RCV002648164
RCV002664165
RCV002871157
RCV002885333
RCV001217229
RCV000229721
RCV003508732
RCV003507822
RCV003616280
RCV003615722
RCV005090723
RCV000466439
RCV000543851
RCV000691755
RCV000694413
RCV000702906
RCV000691705
RCV000822654
RCV000805012
RCV000819548
RCV001044815
RCV001056294
RCV005093454
RCV001239349
Diamond-Blackfan anemia 1 Pathogenic rs1558284033 RCV000761557
Diamond-Blackfan anemia 6 Pathogenic; Likely pathogenic rs1687123286, rs587777117, rs587777118, rs2100677045, rs2100685111, rs2100688414, rs2100676969, rs1394064043, rs2524458087, rs2524448581, rs2524440268, rs121434405, rs1571026775, rs142156224, rs2524452489
View all (6 more)
RCV001332618
RCV000087038
RCV000087039
RCV001783692
RCV004594615
RCV002052118
RCV002053872
RCV002283677
RCV002283945
RCV003134434
RCV002466790
RCV000006556
RCV000006559
RCV000006561
RCV003486402
RCV005631229
RCV002249419
RCV000006558
RCV000853337
RCV001265621
RCV001267892
Glioma susceptibility 1 Likely pathogenic rs1394064043 RCV005930266
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs558220259, rs576892621, rs182018447, rs559377519 -
Acute myeloid leukemia Benign; Likely benign; Conflicting classifications of pathogenicity rs200628272, rs145058455 RCV005895548
RCV005891743
Cervical cancer Benign; Likely benign rs200628272 RCV005895551
Cholangiocarcinoma Benign; Likely benign rs200628272 RCV005895561
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 39252332
Anemia Diamond Blackfan Associate 19061985, 19765279, 19773262, 20116044, 20378560, 20960466, 22262766, 22431104, 22689679, 23744582, 24675553, 25946618, 26258650, 27258031, 28376382
View all (1 more)
Anhedonia Associate 19061985, 20378560
Appendicitis Associate 39252332
Breast Neoplasms Associate 27926932
Budd Chiari Syndrome Associate 34470834
Capillary Malformation Arteriovenous Malformation Associate 19773262, 20960466
Carcinoma Hepatocellular Associate 32316188, 35318110
Chromosome Deletion Inhibit 27909306
Cleft Lip Associate 34032749