RPL22: Ribosomal Protein L22
A core component of the 60S ribosomal subunit with emerging roles in cancer and immune regulation
Gene Information Card
| Symbol | RPL22 |
|---|---|
| Full Name | Ribosomal Protein L22 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.31 |
| NCBI Gene ID | 6146 ncbi.nlm.nih.gov/gene/6146 |
| Ensembl ID | ENSG00000116251 |
| UniProt ID | P35268 |
| OMIM ID | 180474 |
| HGNC ID | 10316 |
| Aliases | EAP, L22, HBP15, L22/MGC88693 |
Description
RPL22 encodes a ribosomal protein that is a component of the 60S large ribosomal subunit. The protein belongs to the L22E family of ribosomal proteins and is involved in the assembly and function of the ribosome. RPL22 has been implicated in translational regulation and, beyond its canonical role, has been shown to participate in cellular processes including apoptosis and immune signaling. Mutations and altered expression of RPL22 are associated with several cancers, particularly T-cell acute lymphoblastic leukemia (T-ALL) and colorectal cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| T-cell acute lymphoblastic leukemia (T-ALL) | Loss-of-function mutations in RPL22 disrupt ribosome biogenesis and promote leukemogenesis through altered translation of key oncogenes and tumor suppressors. | COSMIC, ClinVar, PMID: 23242139 |
| Colorectal cancer | RPL22 frameshift mutations are common in microsatellite-unstable colorectal cancers, leading to loss of protein function and contributing to tumor progression. | COSMIC, PMID: 25263553 |
| Endometrial cancer | Recurrent RPL22 mutations (primarily frameshift) are observed in microsatellite-unstable endometrial tumors, suggesting a role in tumorigenesis. | COSMIC, PMID: 23770608 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 52.3 | High |
| Spleen | 48.7 | High |
| Bone marrow | 45.1 | High |
| Colon | 38.2 | Medium |
| Lung | 35.6 | Medium |
| Brain | 22.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 58.2 | High expression in embryonic kidney cells |
| K562 (leukemia) | 62.1 | High expression in chronic myeloid leukemia cell line |
| HCT 116 (colorectal) | 55.4 | High expression in colorectal carcinoma cell line |
| MCF7 (breast) | 41.3 | Medium expression in breast adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.131_132delAG | Frameshift deletion | Common in MSI-H colorectal and endometrial cancers | Loss of protein function |
| c.43C>T (p.Gln15*) | Nonsense | Rare in T-ALL | Premature truncation, loss of function |
| c.94_95insA | Frameshift insertion | Reported in T-ALL | Loss of function, altered ribosome assembly |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in RPL22 lead to loss of protein expression or production of truncated, non-functional protein, impairing ribosome biogenesis and promoting tumorigenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RPL22.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for RPL22.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • translation (GO:0006412) |
| • cytosolic large ribosomal subunit (GO:0022625) | • cytoplasmic translation (GO:0002181) |
| • ribosome biogenesis (GO:0042254) |
Pathways
• hsa03010: Ribosome (KEGG)
• R-HSA-156902: Peptide chain elongation (Reactome)
• R-HSA-72766: Translation (Reactome)
Protein Summary
Ribosomal protein L22 (RPL22) is a 128-amino-acid protein (14.8 kDa) that localizes to the 60S large ribosomal subunit. It contains a conserved RNA-binding domain and interacts with 28S rRNA. Beyond its structural role in the ribosome, RPL22 has been implicated in the regulation of apoptosis through interaction with the EAP (EBER-associated protein) complex and in the modulation of T-cell receptor signaling. Loss of RPL22 function due to frameshift mutations is a hallmark of microsatellite-unstable cancers and T-ALL, where it contributes to altered translation of specific mRNAs involved in cell growth and survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL22 Knockout HEK293 Cell Line | EDJ-KQ50578 | Human | 6146 | Details Get a Quote |
| RPL22 Knockout HeLa Cell Line | EDJ-KQ54346 | Human | 6146 | Details Get a Quote |
| RPL22 Knockout A-549 Cell Line | EDJ-KQ62842 | Human | 6146 | Details Get a Quote |
| RPL22 Knockout HCT 116 Cell Line | EDJ-KQ71308 | Human | 6146 | Details Get a Quote |
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