RPL13A
Ribosomal Protein L13a: A Component of the 60S Ribosomal Subunit with Extraribosomal Functions in Inflammation and Cancer
Gene Information Card
| Symbol | RPL13A |
|---|---|
| Full Name | Ribosomal Protein L13a |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 23521 ncbi.nlm.nih.gov/gene/23521 |
| Ensembl ID | ENSG00000142541 |
| UniProt ID | P40429 |
| OMIM ID | 113720 |
| HGNC ID | 10303 |
| Aliases | L13A, TSTA1, RPL13AP, RPL13A_3_1043 |
Description
RPL13A encodes ribosomal protein L13a, a component of the 60S large ribosomal subunit. Beyond its canonical role in protein synthesis, RPL13A has extraribosomal functions, including regulation of inflammatory gene expression via the IFN-gamma-activated inhibitor of translation (GAIT) complex. It is involved in cellular processes such as proliferation, apoptosis, and stress responses. Dysregulation of RPL13A expression and mutations have been implicated in various cancers and Diamond-Blackfan anemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations in RPL13A impair ribosome biogenesis, leading to erythroid progenitor cell apoptosis. | ClinVar, OMIM |
| Colorectal cancer | Overexpression of RPL13A promotes cell proliferation and invasion; acts as an oncogene. | COSMIC, PubMed |
| Breast cancer | Altered RPL13A expression correlates with poor prognosis and may influence translation of specific mRNAs. | COSMIC, PubMed |
| Hepatocellular carcinoma | Upregulation of RPL13A associated with tumor progression and metastasis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 45.2 | Medium |
| Brain | 38.1 | Medium |
| Colon | 52.3 | Medium |
| Heart | 41.5 | Medium |
| Kidney | 48.7 | Medium |
| Liver | 55.0 | Medium |
| Lung | 50.4 | Medium |
| Pancreas | 44.8 | Medium |
| Skeletal muscle | 36.9 | Medium |
| Spleen | 53.1 | Medium |
| Testis | 62.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 58.2 | High expression |
| HeLa | 55.0 | High expression |
| K562 | 49.3 | Medium expression |
| A549 | 51.7 | Medium expression |
| MCF7 | 47.8 | Medium expression |
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.284A>G (p.Asn95Ser) | Missense | Rare | Unknown significance; reported in COSMIC |
| c.403G>A (p.Glu135Lys) | Missense | Rare | Unknown significance; reported in COSMIC |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with Diamond-Blackfan anemia |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, causing Diamond-Blackfan anemia.
Gain of Function (GOF)
Not well characterized; overexpression in cancers suggests potential oncogenic gain-of-function.
Dominant Negative (DN)
Not reported for RPL13A.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • RNA binding |
| • translation | • cytoplasmic translation |
| • ribosome biogenesis | • negative regulation of translation in response to interferon-gamma |
| • GAIT complex |
Pathways
• Eukaryotic translation initiation
• Ribosome (KEGG: hsa03010)
• IFN-gamma-mediated signaling pathway
• GAIT pathway
Protein Summary
Ribosomal protein L13a (UniProt P40429) is a 203-amino-acid protein that forms part of the 60S ribosomal subunit. It contains a conserved ribosomal protein L13e domain. In addition to its role in translation, RPL13a is a component of the interferon-gamma-activated inhibitor of translation (GAIT) complex, which binds to 3' UTR elements of specific inflammatory mRNAs to repress their translation. The protein is localized to the cytoplasm and nucleolus. Post-translational modifications include phosphorylation and acetylation, which may regulate its extraribosomal functions.
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 |
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