RPS19 Gene - Ribosomal Protein S19
Essential component of the small ribosomal subunit, implicated in Diamond-Blackfan anemia and cancer
Gene Information Card
| Symbol | RPS19 |
|---|---|
| Full Name | Ribosomal Protein S19 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 6223 ncbi.nlm.nih.gov/gene/6223 |
| Ensembl ID | ENSG00000105372 |
| UniProt ID | P39019 |
| OMIM ID | 603474 |
| HGNC ID | 10402 |
| Aliases | DBA, S19, eS19 |
Description
The RPS19 gene encodes ribosomal protein S19, a component of the 40S small ribosomal subunit. This protein is essential for ribosome biogenesis and protein synthesis. Mutations in RPS19 are the most common cause of Diamond-Blackfan anemia (DBA), a rare congenital bone marrow failure syndrome characterized by red cell aplasia and increased cancer risk. RPS19 also has extraribosomal functions, including roles in apoptosis and inflammation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations impair ribosome assembly, leading to defective erythropoiesis and p53-mediated apoptosis | ClinVar, OMIM |
| Acute myeloid leukemia | Somatic mutations and reduced expression contribute to leukemogenesis via ribosomal stress | COSMIC, PubMed |
| Colorectal cancer | RPS19 overexpression linked to tumor progression and poor prognosis | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 25.3 | High |
| Lymph node | 18.7 | Medium |
| Spleen | 16.2 | Medium |
| Liver | 12.1 | Medium |
| Brain | 8.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 32.4 | High expression |
| HeLa (cervical) | 28.1 | High expression |
| HEK293 (embryonic kidney) | 22.6 | Medium expression |
| HepG2 (liver) | 15.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3G>A (p.Met1?) | Missense | ~25% of DBA cases | Loss of start codon, no protein produced |
| c.184A>T (p.Lys62*) | Nonsense | ~10% of DBA cases | Premature truncation, loss of function |
| c.71G>A (p.Arg24Gln) | Missense | ~5% of DBA cases | Impaired ribosome assembly |
Mutation functional classification
Loss of Function (LOF)
Most DBA-associated mutations are loss-of-function, leading to haploinsufficiency and ribosomal stress.
Gain of Function (GOF)
Not reported for RPS19.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with ribosome assembly.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • rRNA binding |
| • translation | • ribosome biogenesis |
| • cytoplasmic translation | • apoptotic process |
Pathways
• Eukaryotic translation initiation
• Ribosome biogenesis in eukaryotes
• p53 signaling pathway (via ribosomal stress)
Protein Summary
Ribosomal protein S19 (RPS19) is a 16 kDa protein that forms part of the 40S ribosomal subunit. It is involved in mRNA binding and translation initiation. Beyond its ribosomal role, RPS19 participates in extraribosomal functions such as regulation of apoptosis and immune response. Mutations cause Diamond-Blackfan anemia, and altered expression is observed in various cancers.
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