RPL13: Ribosomal Protein L13
A core component of the 60S ribosomal subunit involved in protein synthesis and translational regulation.
Gene Information Card
| Symbol | RPL13 |
|---|---|
| Full Name | Ribosomal Protein L13 |
| Gene Type | Protein-coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 6137 ncbi.nlm.nih.gov/gene/6137 |
| Ensembl ID | ENSG00000167526 |
| UniProt ID | P26373 |
| OMIM ID | 113705 |
| HGNC ID | 10303 |
| Aliases | L13, DBA13, eL13 |
Description
RPL13 encodes a ribosomal protein that is a component of the 60S large ribosomal subunit. The protein belongs to the L13P family of ribosomal proteins and is involved in the initiation of translation and ribosome assembly. RPL13 also has extraribosomal functions, including roles in immune response and regulation of gene expression. Mutations in RPL13 are associated with Diamond-Blackfan anemia (DBA), a rare congenital bone marrow failure syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia (DBA) | Loss-of-function mutations in RPL13 impair ribosome biogenesis, leading to defective erythropoiesis and bone marrow failure. | ClinVar, OMIM (113705) |
| Colorectal cancer | Altered RPL13 expression may contribute to tumorigenesis through dysregulated protein synthesis. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 25.3 | High |
| Heart | 22.1 | High |
| Liver | 30.5 | High |
| Kidney | 28.7 | High |
| Lung | 20.4 | High |
| Pancreas | 18.9 | Medium |
| Spleen | 26.8 | High |
| Testis | 35.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 32.1 | Cervical cancer cell line |
| HEK293 | 29.8 | Embryonic kidney cell line |
| K562 | 27.5 | Leukemia cell line |
| MCF7 | 24.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.220C>T (p.Arg74Ter) | Nonsense | Rare | Loss of function; associated with Diamond-Blackfan anemia |
| c.307G>A (p.Gly103Ser) | Missense | Rare | Unknown; reported in COSMIC |
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of function; associated with DBA |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg74Ter, p.Met1Val) lead to haploinsufficiency, causing Diamond-Blackfan anemia.
Gain of Function (GOF)
No gain-of-function mutations reported in RPL13.
Dominant Negative (DN)
Not described for RPL13.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ribosome (KEGG: hsa03010)
• Eukaryotic translation initiation (Reactome: R-HSA-72649)
• Formation of the 60S ribosomal subunit (Reactome: R-HSA-6791226)
Protein Summary
Ribosomal protein L13 (RPL13) is a 211-amino-acid protein (molecular weight ~24 kDa) that localizes to the cytoplasm as part of the 60S ribosomal subunit. It contains a conserved RNA-binding domain and is essential for ribosome assembly and translation initiation. Beyond its ribosomal role, RPL13 participates in the regulation of interferon-gamma signaling and has been implicated in the pathogenesis of Diamond-Blackfan anemia. The protein is ubiquitously expressed, with highest levels in testis and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL13A Knockout HEK293 Cell Line | EDJ-KQ51114 | Human | 23521 | Details Get a Quote |
| RPL13A Knockout HeLa Cell Line | EDJ-KQ55758 | Human | 23521 | Details Get a Quote |
| RPL13A Knockout A-549 Cell Line | EDJ-KQ64256 | Human | 23521 | Details Get a Quote |
| RPL13A Knockout HCT 116 Cell Line | EDJ-KQ72702 | Human | 23521 | Details Get a Quote |
