RPS15
Ribosomal Protein S15: A Component of the Small Ribosomal Subunit Implicated in Diamond-Blackfan Anemia and Cancer
Gene Information Card
| Symbol | RPS15 |
|---|---|
| Full Name | Ribosomal Protein S15 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 6209 ncbi.nlm.nih.gov/gene/6209 |
| Ensembl ID | ENSG00000115268 |
| UniProt ID | P62841 |
| OMIM ID | 180535 |
| HGNC ID | 10388 |
| Aliases | S15, RIG, RPS15A |
Description
RPS15 encodes ribosomal protein S15, a component of the 40S small ribosomal subunit. This protein is essential for ribosome biogenesis and translation initiation. Mutations in RPS15 are associated with Diamond-Blackfan anemia (DBA), a rare congenital bone marrow failure syndrome, and have been implicated in various cancers, including chronic lymphocytic leukemia (CLL) and colorectal cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations in RPS15 impair ribosome assembly, leading to defective erythropoiesis and bone marrow failure. | PMID: 24476667, ClinVar |
| Chronic lymphocytic leukemia | Somatic mutations in RPS15 (e.g., p.Ser34Phe) are recurrent in CLL and may alter ribosome function, contributing to leukemogenesis. | PMID: 25207793, COSMIC |
| Colorectal cancer | RPS15 overexpression and copy number gains are observed in colorectal tumors, potentially promoting protein synthesis and cell proliferation. | PMID: 26980704 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 25.3 | High |
| Lymph node | 22.1 | High |
| Bone marrow | 20.8 | High |
| Liver | 18.5 | Medium |
| Heart | 15.2 | Medium |
| Skeletal muscle | 12.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 28.5 | Embryonic kidney cell line |
| K562 | 26.1 | Chronic myeloid leukemia cell line |
| HeLa | 24.3 | Cervical cancer cell line |
| HepG2 | 22.7 | Hepatocellular carcinoma cell line |
| MCF7 | 20.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Ser34Phe) | Missense | Recurrent in CLL (2-5%) | Alters ribosome function; potential gain-of-function |
| c.202G>A (p.Glu68Lys) | Missense | Rare in DBA | Loss of function; impairs ribosome assembly |
| c.1A>G (p.Met1Val) | Start loss | Rare in DBA | Loss of function; prevents translation initiation |
| c.304_305del (p.Lys102Glufs*3) | Frameshift | Rare in DBA | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
DBA-associated mutations (e.g., p.Met1Val, p.Lys102Glufs*3) impair ribosome biogenesis and reduce functional ribosome levels.
Gain of Function (GOF)
CLL-associated p.Ser34Phe may alter ribosome selectivity for specific mRNAs, promoting oncogenic translation.
Dominant Negative (DN)
Not clearly established; some DBA mutations may exert dominant-negative effects by incorporating mutant protein into ribosomes.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome (GO:0003735) | • translation (GO:0006412) |
| • cytosolic small ribosomal subunit (GO:0022627) | • ribosome biogenesis (GO:0042254) |
| • cytoplasmic translation (GO:0002181) |
Pathways
• Ribosome (KEGG: hsa03010)
• Eukaryotic translation initiation (Reactome: R-HSA-72649)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-8868773)
Protein Summary
Ribosomal protein S15 (RPS15) is a 145-amino-acid protein that forms part of the 40S ribosomal subunit. It is highly conserved across eukaryotes and plays a critical role in ribosome assembly, mRNA binding, and translation initiation. The protein contains a conserved S15 domain and is localized to the cytoplasm and nucleolus. Post-translational modifications include phosphorylation, which may regulate its function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS15 Knockout HEK293 Cell Line | EDJ-KQ50591 | Human | 6209 | Details Get a Quote |
| RPS15 Knockout HeLa Cell Line | EDJ-KQ54360 | Human | 6209 | Details Get a Quote |
| RPS15 Knockout A-549 Cell Line | EDJ-KQ62856 | Human | 6209 | Details Get a Quote |
| RPS15 Knockout HCT 116 Cell Line | EDJ-KQ71321 | Human | 6209 | Details Get a Quote |
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