ribosomal protein L5, the group of L ribosomal proteins|Protein phosphatase 1 regulatory subunits|Small nucleolar RNA protein coding host genes

Basic information

Region (hg38): 1:92832012-92841924





Source: genCC

  • Diamond-Blackfan anemia 6 (Strong), mode of inheritance: AD
  • Diamond-Blackfan anemia (Supportive), mode of inheritance: AD
  • Diamond-Blackfan anemia 6 (Definitive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Diamond-Blackfan anemia 6ADCardiovascular; Hematologic; OncologicSpecific treatment of anemia (eg, steroids, regular transfusions) can be effective; Surveillance for and early treatment of malignancy may allow early detection and management; Individuals with DBA may manifest a variety of congenital malformations (eg, cardiac anomalies), and awareness may allow prompt detection and managementCardiovascular; Craniofacial; Hematologic; Musculoskeletal; Oncologic; Renal16317735; 5764780; 19061985; 20301769; 23718193; 23812780


This is a list of variants' phenotypes submitted to ClinVar and linked to the RPL5 gene.

  • Diamond-Blackfan anemia (161 variants)
  • Diamond-Blackfan anemia 6 (81 variants)
  • not provided (31 variants)
  • not specified (19 variants)
  • - (4 variants)
  • Diamond-Blackfan anemia 1 (3 variants)
  • Inborn genetic diseases (2 variants)
  • 17 conditions (1 variants)
  • See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPL5 gene is commonly pathogenic or not.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 1 23 2 26
missense 1 61 6 68
nonsense 17 17
start loss 0
frameshift 27 8 1 36
inframe indel 1 1
splice variant 5 7 6 9 27
non coding 1 4 23 11 39
Total 49 17 74 61 13

Variants in RPL5

This is a list of pathogenic ClinVar variants found in the RPL5 region.

Position Type Phenotype Significance ClinVar
1-92832041-C-A Diamond-Blackfan anemia 6 Uncertain significance (Jan 13, 2018)link
1-92832045-T-A Diamond-Blackfan anemia 6 Uncertain significance (Jan 12, 2018)link
1-92832051-C-G Diamond-Blackfan anemia 6 Uncertain significance (Jan 13, 2018)link
1-92832053-C-G Diamond-Blackfan anemia 6 Likely benign (Jan 12, 2018)link
1-92832057-G-T Diamond-Blackfan anemia 6 Benign (Sep 01, 2022)link
1-92832060-C-G Diamond-Blackfan anemia 6 Benign (Jan 13, 2018)link
1-92832063-C-G Diamond-Blackfan anemia 6 Benign (Jan 13, 2018)link
1-92832067-G-A Diamond-Blackfan anemia 6 Benign (Jan 12, 2018)link
1-92832069-C-A not provided (-)link
1-92832069-C-G Diamond-Blackfan anemia 6 Uncertain significance (Jan 12, 2018)link
1-92832073-A-C Diamond-Blackfan anemia 6 Benign (Jan 12, 2018)link
1-92832077-C-T Diamond-Blackfan anemia 6 Likely benign (Jan 13, 2018)link
1-92832097-C-A Diamond-Blackfan anemia 6 Benign (Jan 13, 2018)link
1-92832109-C-T Diamond-Blackfan anemia 6 • not specified Likely benign (May 09, 2022)link
1-92832113-G-A Diamond-Blackfan anemia 6 Uncertain significance (Jan 13, 2018)link
1-92832115-A-C Congenital hypoplastic anemia Pathogenic (Aug 31, 2021)link
1-92832115-A-G Pathogenic (Feb 04, 2022)link
1-92832116-T-G Congenital hypoplastic anemia Pathogenic (Aug 22, 2022)link
1-92832117-G-A Congenital hypoplastic anemia Pathogenic (Jul 09, 2015)link
1-92832118-G-A Diamond-Blackfan anemia 6 Likely pathogenic (May 26, 2021)link
1-92832120-G-A Congenital hypoplastic anemia Uncertain significance (Aug 18, 2022)link
1-92832120-G-C not specified • Congenital hypoplastic anemia • Diamond-Blackfan anemia 6 • Diamond-Blackfan anemia 1 Benign/Likely benign (Jul 01, 2023)link
1-92832120-G-T Congenital hypoplastic anemia Uncertain significance (Nov 10, 2020)link
1-92832122-G-A Congenital hypoplastic anemia Uncertain significance (May 29, 2022)link
1-92832128-G-A not specified • Diamond-Blackfan anemia 6 • Congenital hypoplastic anemia Benign/Likely benign (Oct 30, 2022)link


Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RPL5protein_codingprotein_codingENST00000370321 89900
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense in Polyphen2955.4280.5232679
Loss of Function3.92017.90.000.00000111208

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00


Source: dbNSFP

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- transfer RNA (tRNA) molecules. The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain. The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel. As part of the 5S RNP/5S ribonucleoprotein particle it is an essential component of the LSU, required for its formation and the maturation of rRNAs (PubMed:12962325, PubMed:19061985, PubMed:24120868, PubMed:23636399). It also couples ribosome biogenesis to p53/TP53 activation. As part of the 5S RNP it accumulates in the nucleoplasm and inhibits MDM2, when ribosome biogenesis is perturbed, mediating the stabilization and the activation of TP53 (PubMed:24120868). {ECO:0000269|PubMed:12962325, ECO:0000269|PubMed:19061985, ECO:0000269|PubMed:23636399, ECO:0000269|PubMed:24120868}.;
DISEASE: Diamond-Blackfan anemia 6 (DBA6) [MIM:612561]: A form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. {ECO:0000269|PubMed:19061985, ECO:0000269|PubMed:19191325}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Ribosome - Homo sapiens (human);Cytoplasmic Ribosomal Proteins;SRP-dependent cotranslational protein targeting to membrane;Eukaryotic Translation Initiation;Eukaryotic Translation Termination;Translation;Selenocysteine synthesis;Metabolism of proteins;Metabolism of amino acids and derivatives;Metabolism of RNA;Formation of a pool of free 40S subunits;Metabolism;Nonsense-Mediated Decay (NMD);Selenoamino acid metabolism;Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC);Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);L13a-mediated translational silencing of Ceruloplasmin expression;Peptide chain elongation;Eukaryotic Translation Elongation;GTP hydrolysis and joining of the 60S ribosomal subunit;Cap-dependent Translation Initiation;p53 pathway (Consensus)

Recessive Scores


Intolerance Scores


Haploinsufficiency Scores




Gene Damage Prediction

Primary ImmunodeficiencyMediumMediumMedium

Mouse Genome Informatics

Gene name

Zebrafish Information Network

Gene name
Affected structure
nucleate erythrocyte
Phenotype tag
Phenotype quality
decreased amount

Gene ontology

Biological process
ribosomal large subunit assembly;nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;rRNA processing;translation;translational initiation;SRP-dependent cotranslational protein targeting to membrane;positive regulation of gene expression;ribosomal large subunit biogenesis;positive regulation of translation;protein stabilization;regulation of signal transduction by p53 class mediator;negative regulation of ubiquitin protein ligase activity;negative regulation of ubiquitin-dependent protein catabolic process;negative regulation of protein neddylation
Cellular component
nucleus;nucleoplasm;nucleolus;cytoplasm;endoplasmic reticulum;cytosol;focal adhesion;membrane;cytosolic large ribosomal subunit;protein-containing complex;extracellular exosome;ribonucleoprotein complex
Molecular function
RNA binding;mRNA 3'-UTR binding;structural constituent of ribosome;protein binding;5S rRNA binding;ubiquitin protein ligase binding;mRNA 5'-UTR binding;ubiquitin ligase inhibitor activity