RPL21 (ribosomal protein L21)

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Gene Gene information from NCBI Gene database.
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Entrez ID 6144
Gene name Ribosomal protein L21
Gene symbol RPL21
Synonyms (NCBI Gene)
HYPT12L21eL21
Chromosome 13
Chromosome location 13q12.2
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 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
MIRT031954 hsa-miR-16-5p Proteomics 18668040
MIRT050909 hsa-miR-17-5p CLASH 23622248
MIRT050593 hsa-miR-20a-5p CLASH 23622248
MIRT048563 hsa-miR-100-5p CLASH 23622248
MIRT046903 hsa-miR-221-3p CLASH 23622248
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 IC 23636399
GO:0002181 Process Cytoplasmic translation NAS 25901680
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding TAS 7772601
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
603636 10313 ENSG00000122026
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.
P46778
Protein name Large ribosomal subunit protein eL21 (60S ribosomal protein L21)
Protein function Component of the large ribosomal subunit (PubMed:12962325, PubMed:23636399, PubMed:25901680, PubMed:25957688). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:12962325, PubMed:23636
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
PF01157 Ribosomal_L21e 1 → 101 Ribosomal protein L21e Family
Sequence 
MTNTKGKRRGTRYMFSRPFRKHGVVPLATYMRIYKKGDIVDIKGMGTVQKGMPHKCYHGK
TGRVYNVTQHAVGIVVNKQVKGKILAKRINVRIEHIKHSKSRDSFLKRVKENDQKKKEAK
EKGTWVQLKRQPAPPREAHFVRTNGKEPELLEPIPYEFMA
Sequence length 160
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hypotrichosis 12 Pathogenic rs587777527 RCV000128579
★★★★★
★★★★☆
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.
Phenotype Name Clinical Significance Source Reference Evidence Score
HYPOTRICHOSIS — CTD, Disgenet
CTD, Disgenet 		—
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS SIMPLEX — CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet
CTD, Disgenet, Orphanet 		21412954, 21412954
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (16)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 37545529, 38176923 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cataract Cataract BEFREE 11773032
★★★★★
★☆☆☆☆
Found in Text Mining only
Cataract Cataract Pubtator 11773032 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 35732325 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 32888289 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypotrichosis Hypotrichosis CTD_human_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hypotrichosis Hypotrichosis HPO_DG
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTRICHOSIS 12 Hypotrichosis GENOMICS_ENGLAND_DG 21412954
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOTRICHOSIS 12 Hypotrichosis UNIPROT_DG 21412954
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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DSG4 2 shared diseasesHypotrichosis, Hypotrichosis simplex 5 shared evidence sourcesDisgenet (Hypotrichosis), ClinVar (Hypotrichosis), HPO (Hypotrichosis), Disgenet (Hypotrichosis simplex), Orphanet (Hypotrichosis simplex) Related via 2 shared diseases including Hypotrichosis, Hypotrichosis simplex — evidence mostly Disgenet. SNRPE 2 shared diseasesHypotrichosis, Hypotrichosis simplex 7 shared evidence sourcesDisgenet (Hypotrichosis), CTD (Hypotrichosis), ClinVar (Hypotrichosis), GWAS catalog (Hypotrichosis), HPO (Hypotrichosis), Disgenet (Hypotrichosis simplex), Orphanet (Hypotrichosis simplex) Related via 2 shared diseases including Hypotrichosis, Hypotrichosis simplex — evidence mostly Disgenet. LIPH 2 shared diseasesHypotrichosis, Hypotrichosis simplex 7 shared evidence sourcesDisgenet (Hypotrichosis), CTD (Hypotrichosis), ClinVar (Hypotrichosis), HPO (Hypotrichosis), CTD (Hypotrichosis simplex), Disgenet (Hypotrichosis simplex), Orphanet (Hypotrichosis simplex) Related via 2 shared diseases including Hypotrichosis, Hypotrichosis simplex — evidence mostly Disgenet. LPAR6 2 shared diseasesHypotrichosis, Hypotrichosis simplex 7 shared evidence sourcesDisgenet (Hypotrichosis), CTD (Hypotrichosis), ClinVar (Hypotrichosis), HPO (Hypotrichosis), CTD (Hypotrichosis simplex), Disgenet (Hypotrichosis simplex), Orphanet (Hypotrichosis simplex) Related via 2 shared diseases including Hypotrichosis, Hypotrichosis simplex — evidence mostly Disgenet. APCDD1 2 shared diseasesHypotrichosis, Hypotrichosis simplex 7 shared evidence sourcesDisgenet (Hypotrichosis), ClinVar (Hypotrichosis), GWAS catalog (Hypotrichosis), HPO (Hypotrichosis), CTD (Hypotrichosis simplex), Disgenet (Hypotrichosis simplex), Orphanet (Hypotrichosis simplex) Related via 2 shared diseases including Hypotrichosis, Hypotrichosis simplex — evidence mostly Disgenet.
Woolly hair Linked via 2 of 5 related genesLIPH, LPAR6 Lupus nephritis Linked via 1 of 5 related genesSNRPE Diabetes mellitus type 2 Linked via 1 of 5 related genesLIPH Major depressive disorder Linked via 1 of 5 related genesLPAR6 Alzheimer disease Linked via 1 of 5 related genesAPCDD1