RPS26: Ribosomal Protein S26 – A Key Player in Diamond-Blackfan Anemia and Ribosomopathies
Comprehensive genomic, transcriptomic, and proteomic overview of RPS26, a ribosomal protein gene linked to inherited bone marrow failure syndromes.
Gene Information Card
| Symbol | RPS26 |
|---|---|
| Full Name | Ribosomal Protein S26 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 6231 ncbi.nlm.nih.gov/gene/6231 |
| Ensembl ID | ENSG00000197728 |
| UniProt ID | P62854 |
| OMIM ID | 603701 |
| HGNC ID | 10414 |
| Aliases | S26, eS26, DBA10 |
Description
RPS26 encodes ribosomal protein S26, a component of the 40S small ribosomal subunit. This protein is essential for ribosome biogenesis and translation initiation. Mutations in RPS26 are a known cause of Diamond-Blackfan anemia type 10 (DBA10), a congenital bone marrow failure syndrome characterized by erythroid aplasia, growth retardation, and predisposition to cancer. RPS26 haploinsufficiency disrupts ribosome assembly and leads to p53-mediated apoptosis in erythroid progenitors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia 10 (DBA10) | Haploinsufficiency of RPS26 impairs 40S ribosomal subunit assembly, leading to nucleolar stress, p53 activation, and selective apoptosis of erythroid precursors. | OMIM #603701; ClinVar; PMID: 22267119 |
| Myelodysplastic syndrome (MDS) | Somatic mutations and deletions of RPS26 have been identified in MDS patients, suggesting a role in clonal hematopoiesis and disease progression. | COSMIC; PMID: 25426838 |
| Acute myeloid leukemia (AML) | RPS26 loss-of-function mutations are recurrent in AML, potentially contributing to leukemogenesis through ribosomal dysfunction and altered translation. | COSMIC; PMID: 25426838 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 58.2 | High |
| Lymph node | 42.1 | High |
| Spleen | 38.5 | High |
| Thyroid | 25.3 | Medium |
| Testis | 22.7 | Medium |
| Brain | 12.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 62.8 | High expression; relevant for erythroid biology |
| HEK293 (embryonic kidney) | 45.1 | High expression; common model for ribosome studies |
| HeLa (cervical carcinoma) | 38.2 | High expression |
| HepG2 (hepatocellular carcinoma) | 30.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation; DBA10 |
| c.2T>C (p.Met1?) | Start loss | Rare | Loss of translation initiation; DBA10 |
| c.95_96delAG (p.Glu32Valfs*5) | Frameshift | Rare | Premature truncation; DBA10 |
| c.143G>A (p.Trp48*) | Nonsense | Rare | Premature stop; DBA10 |
| c.223C>T (p.Arg75*) | Nonsense | Rare | Premature stop; DBA10 |
| c.1_? (whole gene deletion) | Deletion | Rare | Haploinsufficiency; DBA10 |
Mutation functional classification
Loss of Function (LOF)
Most RPS26 mutations in DBA10 are loss-of-function (nonsense, frameshift, start loss, deletions) leading to haploinsufficiency.
Gain of Function (GOF)
No gain-of-function mutations reported for RPS26.
Dominant Negative (DN)
No dominant-negative mutations reported; haploinsufficiency is the primary mechanism.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • rRNA binding |
| • translation | • ribosome biogenesis |
| • cytoplasmic translation | • small ribosomal subunit |
Pathways
• Eukaryotic translation initiation
• Ribosome biogenesis in eukaryotes
• p53 signaling pathway (via nucleolar stress)
Protein Summary
Ribosomal protein S26 (RPS26) is a 115-amino-acid component of the 40S small ribosomal subunit. It is highly conserved across eukaryotes and plays a critical role in ribosome assembly and translation initiation. RPS26 is located at the interface of the small subunit and is involved in mRNA binding and decoding. Loss of RPS26 function leads to nucleolar stress, p53 stabilization, and selective apoptosis of erythroid progenitors, underlying Diamond-Blackfan anemia. The protein is ubiquitously expressed, with highest levels in bone marrow and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS26 Knockout HEK293 Cell Line | EDJ-KQ50595 | Human | 6231 | Details Get a Quote |
| RPS26 Knockout HeLa Cell Line | EDJ-KQ54364 | Human | 6231 | Details Get a Quote |
| RPS26 Knockout A-549 Cell Line | EDJ-KQ62860 | Human | 6231 | Details Get a Quote |
| RPS26 Knockout HCT 116 Cell Line | EDJ-KQ71325 | Human | 6231 | Details Get a Quote |
