RPL21: Ribosomal Protein L21
A core component of the large ribosomal subunit involved in protein synthesis and implicated in Diamond-Blackfan anemia
Gene Information Card
| Symbol | RPL21 |
|---|---|
| Full Name | ribosomal protein L21 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q12.2 |
| NCBI Gene ID | 6144 ncbi.nlm.nih.gov/gene/6144 |
| Ensembl ID | ENSG00000122026 |
| UniProt ID | P46778 |
| OMIM ID | 180466 |
| HGNC ID | 10313 |
| Aliases | L21, MGC104284 |
Description
RPL21 encodes ribosomal protein L21, a component of the 60S large ribosomal subunit. This protein is involved in the initiation and elongation phases of protein synthesis by binding to the ribosome and facilitating mRNA translation. RPL21 is a member of the L21E family of ribosomal proteins and is highly conserved across eukaryotes. Mutations in RPL21 are associated with Diamond-Blackfan anemia (DBA), a rare congenital bone marrow failure syndrome characterized by red cell aplasia and physical anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations in RPL21 impair ribosome biogenesis, leading to defective erythropoiesis and bone marrow failure. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.1 | High |
| Lymph node | 18.3 | Medium |
| Spleen | 16.7 | Medium |
| Bone marrow | 15.9 | Medium |
| Brain | 12.4 | Medium |
| Liver | 10.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 22.5 | Leukemia cell line; high expression |
| HeLa | 19.8 | Cervical carcinoma; medium expression |
| HEK293 | 18.1 | Embryonic kidney; medium expression |
| HepG2 | 15.3 | Hepatocellular carcinoma; medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.95C>T (p.Pro32Leu) | Missense | Rare | Loss of function; associated with Diamond-Blackfan anemia |
| c.128_129del (p.Lys43Argfs*12) | Frameshift | Rare | Loss of function; associated with Diamond-Blackfan anemia |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with Diamond-Blackfan anemia |
Mutation functional classification
Loss of Function (LOF)
Missense, frameshift, and start-loss mutations in RPL21 reduce or abolish protein function, leading to haploinsufficiency and Diamond-Blackfan anemia.
Gain of Function (GOF)
No gain-of-function mutations reported for RPL21.
Dominant Negative (DN)
No dominant-negative mutations reported for RPL21.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • translation |
| • cytoplasmic translation | • ribosome biogenesis |
| • large ribosomal subunit | • cytosol |
Pathways
• Eukaryotic translation initiation
• Eukaryotic translation elongation
• Ribosome (KEGG hsa03010)
• SRP-dependent cotranslational protein targeting to membrane
Protein Summary
Ribosomal protein L21 is a 160-amino-acid protein (18.5 kDa) that localizes to the large ribosomal subunit. It contains a conserved L21 domain and is essential for ribosome assembly and translational fidelity. The protein interacts with rRNA and other ribosomal proteins to stabilize the 60S subunit structure. In Diamond-Blackfan anemia, RPL21 haploinsufficiency disrupts ribosome production, triggering p53-mediated apoptosis in erythroid progenitors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL21 Knockout HEK293 Cell Line | EDJ-KQ50577 | Human | 6144 | Details Get a Quote |
| RPL21 Knockout HeLa Cell Line | EDJ-KQ54345 | Human | 6144 | Details Get a Quote |
| RPL21 Knockout A-549 Cell Line | EDJ-KQ62841 | Human | 6144 | Details Get a Quote |
| RPL21 Knockout HCT 116 Cell Line | EDJ-KQ71307 | Human | 6144 | Details Get a Quote |
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