RPL3: Ribosomal Protein L3
A core component of the large ribosomal subunit involved in translation and implicated in cancer and Diamond-Blackfan anemia
Gene Information Card
| Symbol | RPL3 |
|---|---|
| Full Name | Ribosomal Protein L3 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 6122 ncbi.nlm.nih.gov/gene/6122 |
| Ensembl ID | ENSG00000100316 |
| UniProt ID | P39023 |
| OMIM ID | 180466 |
| HGNC ID | 10332 |
| Aliases | L3, MGC88693, uL3 |
Description
RPL3 encodes a ribosomal protein that is a component of the 60S large ribosomal subunit. The protein belongs to the L3P family of ribosomal proteins and is located in the cytoplasm. RPL3 is involved in the initiation of translation and has been implicated in ribosome biogenesis and cellular stress responses. Mutations in RPL3 are associated with Diamond-Blackfan anemia and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations impair ribosome assembly, leading to erythroid hypoplasia | ClinVar, OMIM |
| Colorectal cancer | RPL3 overexpression promotes translation of oncogenic mRNAs | COSMIC, PubMed |
| Hepatocellular carcinoma | RPL3 upregulation correlates with poor prognosis and increased proliferation | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 48.2 | High |
| Kidney | 35.1 | Medium |
| Heart | 30.5 | Medium |
| Brain | 22.8 | Medium |
| Lung | 18.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 52.3 | High expression |
| HeLa | 45.6 | High expression |
| HepG2 | 50.1 | High expression |
| K562 | 38.9 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.95A>G (p.Gln32Arg) | Missense | <0.01% | Impaired ribosome assembly; associated with Diamond-Blackfan anemia |
| c.220C>T (p.Arg74Trp) | Missense | <0.01% | Reduced translational activity; linked to cancer |
| c.358G>A (p.Gly120Ser) | Missense | <0.01% | Altered protein stability; reported in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Gln32Arg) reduce ribosome assembly and translation efficiency, leading to Diamond-Blackfan anemia.
Gain of Function (GOF)
Not well characterized; overexpression in cancer may enhance translation of oncogenes.
Dominant Negative (DN)
Not reported for RPL3.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • translation |
| • rRNA binding | • cytoplasmic translation |
| • ribosome biogenesis |
Pathways
• Eukaryotic translation initiation
• Ribosome (KEGG: hsa03010)
• rRNA processing
Protein Summary
Ribosomal protein L3 (uL3) is a 403-amino-acid protein that forms part of the 60S ribosomal subunit. It binds directly to 28S rRNA and is essential for the peptidyltransferase center activity. The protein also has extraribosomal functions, including regulation of cell cycle and apoptosis. Post-translational modifications include phosphorylation and acetylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL3L Knockout HEK293 Cell Line | EDJ-KQ5688 | Human | 6123 | Details Get a Quote |
| MRPL3 Knockout HEK293 Cell Line | EDJ-KQ6700 | Human | 11222 | Details Get a Quote |
| RPL39L Knockout HEK293 Cell Line | EDJ-KQ6917 | Human | 116832 | Details Get a Quote |
| MRPL36 Knockout HEK293 Cell Line | EDJ-KQ14305 | Human | 64979 | Details Get a Quote |
| MRPL36 Knockout HCT 116 Cell Line | EDJ-KQ44377 | Human | 64979 | Details Get a Quote |
| MRPL36 Knockout HeLa Cell Line | EDJ-KQ44378 | Human | 64979 | Details Get a Quote |
| MRPL3 Knockout HCT 116 Cell Line | EDJ-KQ32432 | Human | 11222 | Details Get a Quote |
| MRPL3 Knockout HeLa Cell Line | EDJ-KQ32433 | Human | 11222 | Details Get a Quote |
| RPL39L Knockout A-549 Cell Line | EDJ-KQ32896 | Human | 116832 | Details Get a Quote |
| RPL39L Knockout HeLa Cell Line | EDJ-KQ32898 | Human | 116832 | Details Get a Quote |
| RPL32 Knockout HEK293 Cell Line | EDJ-KQ50582 | Human | 6161 | Details Get a Quote |
| RPL34 Knockout HEK293 Cell Line | EDJ-KQ50583 | Human | 6164 | Details Get a Quote |
| RPL36AL Knockout HEK293 Cell Line | EDJ-KQ50584 | Human | 6166 | Details Get a Quote |
| RPL37 Knockout HEK293 Cell Line | EDJ-KQ50585 | Human | 6167 | Details Get a Quote |
| RPL39 Knockout HEK293 Cell Line | EDJ-KQ50586 | Human | 6170 | Details Get a Quote |
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