RPL17: Ribosomal Protein L17
A core component of the large ribosomal subunit involved in protein synthesis and implicated in Diamond-Blackfan anemia and cancer
Gene Information Card
| Symbol | RPL17 |
|---|---|
| Full Name | Ribosomal Protein L17 |
| Gene Type | protein-coding |
| Chromosomal Location | 18q21.1 |
| NCBI Gene ID | 6139 ncbi.nlm.nih.gov/gene/6139 |
| Ensembl ID | ENSG00000141456 |
| UniProt ID | P18621 |
| OMIM ID | 180471 |
| HGNC ID | 10305 |
| Aliases | L17, uL22, RPL17P1, RPL17P2 |
Description
RPL17 encodes ribosomal protein L17, a component of the 60S large ribosomal subunit. This protein belongs to the L22P family of ribosomal proteins and is involved in the initiation and elongation phases of protein synthesis. RPL17 is also implicated in ribosome biogenesis and cellular stress responses. Mutations in RPL17 are associated with Diamond-Blackfan anemia (DBA), a rare bone marrow failure syndrome, and altered expression is observed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations in RPL17 impair ribosome assembly, leading to defective erythropoiesis and bone marrow failure. | ClinVar; PMID: 24675511 |
| Colorectal cancer | Overexpression of RPL17 is associated with tumor progression and poor prognosis. | COSMIC; PMID: 29348694 |
| Hepatocellular carcinoma | Upregulation of RPL17 promotes cell proliferation and metastasis. | COSMIC; PMID: 31065110 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Liver | 10.8 | Medium |
| Colon | 9.2 | Medium |
| Testis | 8.7 | Medium |
| Brain | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.1 | High expression |
| HeLa | 11.5 | Medium expression |
| HepG2 | 10.2 | Medium expression |
| K562 | 9.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.95C>T (p.Pro32Leu) | Missense | <0.01% | Associated with Diamond-Blackfan anemia |
| c.214_215del (p.Glu72fs) | Frameshift | <0.01% | Loss of function, DBA |
Mutation functional classification
Loss of Function (LOF)
Most RPL17 mutations in Diamond-Blackfan anemia are loss-of-function, leading to haploinsufficiency and impaired ribosome biogenesis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described for RPL17.
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) |
Pathways
• R-HSA-156902 (Peptide chain elongation)
• R-HSA-72766 (Translation)
• R-HSA-975957 (Nonsense Mediated Decay (NMD))
Protein Summary
Ribosomal protein L17 (uL22) is a 184-amino acid protein that localizes to the 60S ribosomal subunit. It is highly conserved across eukaryotes and plays a critical role in maintaining ribosome structure and function. The protein contains a ribosomal L22e domain and interacts with rRNA and other ribosomal proteins. Post-translational modifications include phosphorylation, which may regulate ribosome assembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPL17 Knockout HEK293 Cell Line | EDJ-KQ50576 | Human | 6139 | Details Get a Quote |
| RPL17-C18orf32 Knockout HEK293 Cell Line | EDJ-KQ52480 | Human | 100526842 | Details Get a Quote |
| RPL17 Knockout HeLa Cell Line | EDJ-KQ54344 | Human | 6139 | Details Get a Quote |
| RPL17-C18orf32 Knockout HeLa Cell Line | EDJ-KQ60943 | Human | 100526842 | Details Get a Quote |
| RPL17 Knockout A-549 Cell Line | EDJ-KQ62840 | Human | 6139 | Details Get a Quote |
| RPL17-C18orf32 Knockout A-549 Cell Line | EDJ-KQ69418 | Human | 100526842 | Details Get a Quote |
| RPL17 Knockout HCT 116 Cell Line | EDJ-KQ71306 | Human | 6139 | Details Get a Quote |
| RPL17-C18orf32 Knockout HCT 116 Cell Line | EDJ-KQ77769 | Human | 100526842 | Details Get a Quote |
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