RPS10: Ribosomal Protein S10 – A Key Component of the Small Ribosomal Subunit
Essential for protein synthesis and implicated in Diamond-Blackfan anemia and cancer
Gene Information Card
| Symbol | RPS10 |
|---|---|
| Full Name | Ribosomal Protein S10 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 6204 ncbi.nlm.nih.gov/gene/6204 |
| Ensembl ID | ENSG00000124614 |
| UniProt ID | P46783 |
| OMIM ID | 603632 |
| HGNC ID | 10401 |
| Aliases | S10, DBA9 |
Description
RPS10 encodes ribosomal protein S10, a component of the 40S small ribosomal subunit. This protein is essential for mRNA translation and ribosome biogenesis. Mutations in RPS10 are associated with Diamond-Blackfan anemia (DBA), a congenital bone marrow failure syndrome, and have been implicated in various cancers due to dysregulated protein synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia 9 (DBA9) | Loss-of-function mutations in RPS10 impair ribosome assembly, leading to defective erythropoiesis and bone marrow failure. | OMIM #613308; ClinVar |
| Colorectal cancer | RPS10 overexpression or mutation may contribute to increased protein synthesis and tumor growth. | COSMIC; PMID: 23542689 |
| Breast cancer | Altered RPS10 expression linked to ribosome biogenesis and poor prognosis. | COSMIC; PMID: 29158337 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Lymph node | 37.5 | High |
| Bone marrow | 32.1 | High |
| Brain | 15.4 | Medium |
| Liver | 12.8 | Medium |
| Heart | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 42.5 | Embryonic kidney; high expression |
| HeLa | 38.1 | Cervical cancer; high expression |
| K562 | 35.7 | Leukemia; high expression |
| HepG2 | 30.2 | Liver cancer; 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; associated with DBA |
| c.94C>T (p.Arg32*) | Nonsense | <0.01% | Premature stop; loss of function; DBA |
| c.164G>A (p.Arg55Gln) | Missense | <0.01% | Impaired ribosome assembly; DBA |
| c.307C>T (p.Arg103Trp) | Missense | <0.01% | Reduced protein stability; DBA |
Mutation functional classification
Loss of Function (LOF)
Most RPS10 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 in RPS10.
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)
| • structural constituent of ribosome (GO:0003735) | • translation (GO:0006412) |
| • cytosolic small ribosomal subunit (GO:0022627) | • ribosome biogenesis (GO:0042254) |
| • cytoplasmic translation (GO:0002181) |
Pathways
• Eukaryotic translation initiation (Reactome: R-HSA-72649)
• Formation of the small ribosomal subunit (Reactome: R-HSA-72689)
• Ribosome biogenesis (KEGG: hsa03008)
Protein Summary
Ribosomal protein S10 (RPS10) is a 165-amino-acid protein that forms part of the 40S small ribosomal subunit. It is highly conserved across eukaryotes and plays a critical role in mRNA binding and translation initiation. RPS10 interacts with ribosomal RNA and other ribosomal proteins to ensure proper ribosome assembly and function. Mutations in RPS10 cause Diamond-Blackfan anemia, and altered expression is observed in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS10 Knockout HEK293 Cell Line | EDJ-KQ50589 | Human | 6204 | Details Get a Quote |
| RPS10-NUDT3 Knockout HEK293 Cell Line | EDJ-KQ52495 | Human | 100529239 | Details Get a Quote |
| RPS10 Knockout HeLa Cell Line | EDJ-KQ54358 | Human | 6204 | Details Get a Quote |
| RPS10-NUDT3 Knockout HeLa Cell Line | EDJ-KQ60958 | Human | 100529239 | Details Get a Quote |
| RPS10 Knockout A-549 Cell Line | EDJ-KQ62854 | Human | 6204 | Details Get a Quote |
| RPS10-NUDT3 Knockout A-549 Cell Line | EDJ-KQ69433 | Human | 100529239 | Details Get a Quote |
| RPS10 Knockout HCT 116 Cell Line | EDJ-KQ71319 | Human | 6204 | Details Get a Quote |
| RPS10-NUDT3 Knockout HCT 116 Cell Line | EDJ-KQ77784 | Human | 100529239 | Details Get a Quote |
