RPL5 Gene - Ribosomal Protein L5
A key component of the large ribosomal subunit involved in ribosome biogenesis and translation, associated with Diamond-Blackfan anemia and cancer.
Gene Information Card
| Symbol | RPL5 |
|---|---|
| Full Name | Ribosomal Protein L5 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p22.1 |
| NCBI Gene ID | 6125 ncbi.nlm.nih.gov/gene/6125 |
| Ensembl ID | ENSG00000122406 |
| UniProt ID | P46777 |
| OMIM ID | 603634 |
| HGNC ID | 10360 |
| Aliases | MSTP030, L5 |
Description
RPL5 encodes ribosomal protein L5, a component of the 60S large ribosomal subunit. This protein binds 5S rRNA and is essential for ribosome assembly and translation. Mutations in RPL5 are associated with Diamond-Blackfan anemia (DBA), a congenital bone marrow failure syndrome, and are implicated in various cancers due to dysregulated ribosome biogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations in RPL5 impair ribosome biogenesis, leading to defective erythropoiesis and bone marrow failure. | ClinVar, OMIM #603634 |
| Colorectal cancer | Somatic mutations and copy number alterations in RPL5 contribute to ribosomal stress and p53 pathway activation, promoting tumorigenesis. | COSMIC, NCBI |
| Breast cancer | RPL5 overexpression and mutations are linked to altered translation and cell proliferation. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 34.2 | High |
| Heart | 28.5 | High |
| Liver | 26.1 | High |
| Kidney | 22.8 | High |
| Lung | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 35.0 | Cervical cancer cell line |
| HEK293 | 32.5 | Embryonic kidney cell line |
| K562 | 30.1 | Leukemia cell line |
| MCF7 | 28.9 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.173G>A (p.Arg58Gln) | Missense | Rare | Loss of function; associated with Diamond-Blackfan anemia |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; associated with Diamond-Blackfan anemia |
| c.94C>T (p.Arg32Ter) | Nonsense | Rare | Loss of function; associated with Diamond-Blackfan anemia |
Mutation functional classification
Loss of Function (LOF)
Most RPL5 mutations in Diamond-Blackfan anemia are loss-of-function, leading to haploinsufficiency and impaired ribosome assembly.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting ribosome assembly, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • translation (GO:0006412) |
| • cytosolic large ribosomal subunit (GO:0022625) | • 5S rRNA binding (GO:0008097) |
| • ribosome biogenesis (GO:0042254) |
Pathways
• Ribosome (KEGG hsa03010)
• Eukaryotic Translation Initiation (Reactome R-HSA-72689)
• rRNA processing in the nucleus and cytosol (Reactome R-HSA-8868773)
Protein Summary
Ribosomal protein L5 (RPL5) is a 297-amino-acid protein that localizes to the nucleolus and cytoplasm. It binds 5S rRNA and is incorporated into the 60S ribosomal subunit. RPL5 plays a critical role in ribosome biogenesis and translational fidelity. Mutations cause Diamond-Blackfan anemia and are linked to cancer through ribosomal stress and p53 activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MRPL50 Knockout HEK293 Cell Line | EDJ-KQ2878 | Human | 54534 | Details Get a Quote |
| MRPL58 Knockout HEK293 Cell Line | EDJ-KQ4958 | Human | 3396 | Details Get a Quote |
| MRPL54 Knockout HEK293 Cell Line | EDJ-KQ7579 | Human | 116541 | Details Get a Quote |
| MRPL55 Knockout HEK293 Cell Line | EDJ-KQ9157 | Human | 128308 | Details Get a Quote |
| MRPL57 Knockout HEK293 Cell Line | EDJ-KQ14306 | Human | 78988 | Details Get a Quote |
| MRPL50 Knockout A-549 Cell Line | EDJ-KQ23924 | Human | 54534 | Details Get a Quote |
| MRPL50 Knockout HCT 116 Cell Line | EDJ-KQ23925 | Human | 54534 | Details Get a Quote |
| MRPL50 Knockout HeLa Cell Line | EDJ-KQ23926 | Human | 54534 | Details Get a Quote |
| MRPL57 Knockout A-549 Cell Line | EDJ-KQ44382 | Human | 78988 | Details Get a Quote |
| MRPL57 Knockout HCT 116 Cell Line | EDJ-KQ44383 | Human | 78988 | Details Get a Quote |
| MRPL57 Knockout HeLa Cell Line | EDJ-KQ44384 | Human | 78988 | Details Get a Quote |
| MRPL58 Knockout A-549 Cell Line | EDJ-KQ27826 | Human | 3396 | Details Get a Quote |
| MRPL58 Knockout HCT 116 Cell Line | EDJ-KQ27827 | Human | 3396 | Details Get a Quote |
| MRPL58 Knockout HeLa Cell Line | EDJ-KQ27828 | Human | 3396 | Details Get a Quote |
| MRPL54 Knockout HCT 116 Cell Line | EDJ-KQ32893 | Human | 116541 | Details Get a Quote |
Displaying Records 1 To 15 Of 28 Records
