RPL15: Ribosomal Protein L15
A core component of the large ribosomal subunit involved in protein synthesis and linked to Diamond-Blackfan anemia and cancer
Gene Information Card
| Symbol | RPL15 |
|---|---|
| Full Name | Ribosomal Protein L15 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p24.2 |
| NCBI Gene ID | 6138 ncbi.nlm.nih.gov/gene/6138 |
| Ensembl ID | ENSG00000163840 |
| UniProt ID | P61313 |
| OMIM ID | 604174 |
| HGNC ID | 10306 |
| Aliases | L15, DBA12, RPL15A |
Description
RPL15 encodes a ribosomal protein that is a component of the 60S large ribosomal subunit. The protein belongs to the L15P family of ribosomal proteins and is involved in the initiation of protein synthesis. Mutations in RPL15 are associated with Diamond-Blackfan anemia type 12 (DBA12), a congenital bone marrow failure syndrome characterized by red cell aplasia and increased cancer risk. RPL15 also plays a role in ribosome biogenesis and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia 12 (DBA12) | Loss-of-function mutations in RPL15 impair ribosome assembly, leading to defective erythropoiesis and bone marrow failure. | ClinVar, OMIM |
| Colorectal cancer | RPL15 overexpression is observed in colorectal tumors and may promote cell proliferation through enhanced translation. | COSMIC, PubMed |
| Breast cancer | RPL15 upregulation correlates with poor prognosis and increased metastatic potential in breast cancer cell lines. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 28.5 | High |
| Lymph node | 22.3 | High |
| Spleen | 20.1 | High |
| Liver | 15.7 | Medium |
| Brain | 8.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 32.1 | High expression in embryonic kidney cells |
| HeLa | 29.8 | High expression in cervical cancer cells |
| K562 | 26.4 | High expression in leukemia cells |
| MCF7 | 18.5 | Medium expression in breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.202C>T (p.Arg68*) | Nonsense | Rare (DBA12) | Loss of function; premature termination leads to haploinsufficiency |
| c.284_285delAG (p.Glu95Valfs*12) | Frameshift | Rare (DBA12) | Loss of function; truncated protein |
| c.1A>G (p.Met1?) | Start loss | Rare (DBA12) | Loss of function; translation initiation failure |
Mutation functional classification
Loss of Function (LOF)
Haploinsufficiency due to nonsense, frameshift, or start-loss mutations is the primary mechanism in Diamond-Blackfan anemia.
Gain of Function (GOF)
Not reported for RPL15; overexpression in cancer is likely secondary to transcriptional dysregulation.
Dominant Negative (DN)
No evidence of dominant-negative effects; DBA12 follows autosomal dominant inheritance with incomplete penetrance.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • translation (GO:0006412) |
| • cytosolic large ribosomal subunit (GO:0022625) | • ribosome biogenesis (GO:0042254) |
| • cytoplasmic translation (GO:0002181) |
Pathways
• Ribosome (KEGG hsa03010)
• Eukaryotic translation initiation (Reactome R-HSA-72649)
• rRNA processing in the nucleus and cytosol (Reactome R-HSA-8868773)
Protein Summary
Ribosomal protein L15 (RPL15) is a 204-amino-acid protein (22.9 kDa) that forms part of the 60S ribosomal subunit. It is highly conserved across eukaryotes and is essential for ribosome assembly and translational fidelity. RPL15 interacts with rRNA and other ribosomal proteins to stabilize the large subunit structure. Mutations causing haploinsufficiency lead to Diamond-Blackfan anemia, while overexpression is observed in several cancers, suggesting a role in tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL15 Knockout HEK293 Cell Line | EDJ-KQ50575 | Human | 6138 | Details Get a Quote |
| RPL15 Knockout HeLa Cell Line | EDJ-KQ54343 | Human | 6138 | Details Get a Quote |
| RPL15 Knockout A-549 Cell Line | EDJ-KQ62839 | Human | 6138 | Details Get a Quote |
| RPL15 Knockout HCT 116 Cell Line | EDJ-KQ71305 | Human | 6138 | Details Get a Quote |
