RPS7: Ribosomal Protein S7
A core component of the small ribosomal subunit involved in translation and linked to Diamond-Blackfan anemia
Gene Information Card
| Symbol | RPS7 |
|---|---|
| Full Name | Ribosomal Protein S7 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p25.3 |
| NCBI Gene ID | 6201 ncbi.nlm.nih.gov/gene/6201 |
| Ensembl ID | ENSG00000171863 |
| UniProt ID | P62081 |
| OMIM ID | 603658 |
| HGNC ID | 10440 |
| Aliases | S7, eS7, DBA8 |
Description
RPS7 encodes ribosomal protein S7, a component of the 40S small ribosomal subunit. This protein is essential for ribosome assembly and translation initiation. Mutations in RPS7 are associated with Diamond-Blackfan anemia (DBA), a congenital bone marrow failure syndrome characterized by erythroid hypoplasia and increased cancer risk. RPS7 is also implicated in p53-dependent cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia 8 (DBA8) | Loss-of-function mutations impair ribosome biogenesis, leading to nucleolar stress and p53-mediated apoptosis of erythroid progenitors. | ClinVar, OMIM |
| Colorectal cancer | Somatic mutations and copy number alterations may contribute to tumorigenesis through dysregulated translation. | COSMIC |
| Acute myeloid leukemia | RPS7 haploinsufficiency has been reported in some AML cases, potentially via ribosomal stress. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Heart | 38.1 | High |
| Liver | 32.5 | Medium |
| Kidney | 29.8 | Medium |
| Lung | 27.4 | Medium |
| Spleen | 35.6 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 48.3 | Ubiquitous expression |
| HEK293 | 42.1 | High expression |
| K562 | 39.7 | Leukemia cell line |
| HepG2 | 36.4 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3G>A (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.70C>T (p.Arg24*) | Nonsense | Rare | Premature stop, loss of function |
| c.161_162delAG (p.Glu54fs) | Frameshift | Rare | Frameshift, loss of function |
| c.220A>G (p.Lys74Glu) | Missense | Rare | Impaired ribosome assembly |
Mutation functional classification
Loss of Function (LOF)
Most DBA-associated RPS7 mutations are loss-of-function (nonsense, frameshift, splice-site) leading to haploinsufficiency and ribosomal stress.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RPS7.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting ribosome assembly, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ribosome (KEGG: hsa03010)
• Eukaryotic translation initiation (Reactome: R-HSA-72649)
• Nonsense-mediated decay (Reactome: R-HSA-927802)
Protein Summary
Ribosomal protein S7 (RPS7) is a 194-amino-acid protein that forms part of the small ribosomal subunit. It binds to 18S rRNA and is critical for ribosome assembly and translational accuracy. RPS7 also has extraribosomal functions, including regulation of MDM2-mediated p53 degradation. Loss of RPS7 triggers nucleolar stress, p53 stabilization, and cell cycle arrest, underlying the pathogenesis of Diamond-Blackfan anemia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID |
|---|
