Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6137
Gene name Gene Name - the full gene name approved by the HGNC.
Ribosomal protein L13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RPL13
Synonyms (NCBI Gene) Gene synonyms aliases
BBC1, D16S444E, D16S44E, L13, SEMDIST, eL13
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q24.3|17p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1597675888 G>A,T Pathogenic Splice donor variant
rs1597675890 T>C Pathogenic Splice donor variant
rs1597676540 G>C,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT031830 hsa-miR-16-5p Proteomics 18668040
MIRT050197 hsa-miR-26a-5p CLASH 23622248
MIRT039784 hsa-miR-615-3p CLASH 23622248
MIRT039784 hsa-miR-615-3p CLASH 23622248
MIRT037675 hsa-miR-744-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001824 Process Blastocyst development IEA
GO:0002181 Process Cytoplasmic translation IC 23636399
GO:0002181 Process Cytoplasmic translation NAS 25901680
GO:0003723 Function RNA binding HDA 22658674
GO:0003723 Function RNA binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
113703 10303 ENSG00000167526
Protein
UniProt ID P26373
Protein name Large ribosomal subunit protein eL13 (60S ribosomal protein L13) (Breast basic conserved protein 1)
Protein function Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399, PubMed:31630789, PubMed:32669547). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates
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 , 8FKP , 8FKQ , 8FKR , 8FKS , 8FKT , 8FKU , 8FKV , 8FKW , 8FKX , 8FKY , 8FKZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01294 Ribosomal_L13e 8 187 Ribosomal protein L13e Family
Tissue specificity TISSUE SPECIFICITY: Higher levels of expression in benign breast lesions than in carcinomas. {ECO:0000269|PubMed:1301162}.
Sequence
Sequence length 211
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)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Spondyloenchondrodysplasia Spondyloepimetaphyseal dysplasia, Isidor-Toutain type rs1597675888, rs1597675890, rs934768094, rs2058757423 N/A
spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia rs1597675888, rs1597675890, rs1597676540 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 40725227
Alzheimer Disease Associate 25129075
Anemia Diamond Blackfan Associate 20116044
Atypical Hemolytic Uremic Syndrome Associate 37373158
Blount disease Associate 40725227
Carcinoma Hepatocellular Associate 28978646
Carcinoma Renal Cell Associate 25225161
Clear cell metastatic renal cell carcinoma Associate 25225161
Growth Disorders Associate 40725227
HEM dysplasia Associate 40725227