RPS27: Ribosomal Protein S27
A component of the small ribosomal subunit involved in translation and implicated in Diamond-Blackfan anemia and cancer
Gene Information Card
| Symbol | RPS27 |
|---|---|
| Full Name | Ribosomal Protein S27 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 6232 ncbi.nlm.nih.gov/gene/6232 |
| Ensembl ID | ENSG00000143947 |
| UniProt ID | P42677 |
| OMIM ID | 603702 |
| HGNC ID | 10418 |
| Aliases | MPS-1, S27, eS27 |
Description
RPS27 encodes a ribosomal protein that is a component of the 40S small ribosomal subunit. This protein is involved in the initiation of protein synthesis and has additional extraribosomal functions, including regulation of cell proliferation and apoptosis. Mutations in RPS27 are associated with Diamond-Blackfan anemia, a congenital bone marrow failure syndrome. The gene is also implicated in various cancers due to altered expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations in RPS27 impair ribosome biogenesis, leading to defective erythropoiesis and bone marrow failure. | ClinVar, OMIM |
| Colorectal cancer | Overexpression of RPS27 promotes cell proliferation and tumor growth through enhanced translation of oncogenic mRNAs. | COSMIC, PubMed |
| Hepatocellular carcinoma | Upregulation of RPS27 correlates with poor prognosis and increased metastatic potential. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 18.5 | Medium |
| Bone marrow | 22.1 | Medium |
| Colon | 15.3 | Medium |
| Testis | 12.8 | Low |
| Brain | 8.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 20.4 | High expression |
| HeLa | 18.7 | High expression |
| HepG2 | 16.2 | Medium expression |
| K562 | 14.9 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.130C>T (p.Arg44Trp) | Missense | Rare | Impaired ribosome assembly, associated with Diamond-Blackfan anemia |
| c.202_203delAG (p.Ser68fs) | Frameshift | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations leading to haploinsufficiency (e.g., frameshift, nonsense) impair ribosome biogenesis and cause Diamond-Blackfan anemia.
Gain of Function (GOF)
Not reported; overexpression in cancers may act via increased translation but not due to activating mutations.
Dominant Negative (DN)
Not described for RPS27.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • RNA binding |
| • translation | • cytoplasmic translation |
| • ribosome biogenesis | • cell proliferation |
| • apoptotic process |
Pathways
• Eukaryotic translation initiation
• Ribosome (KEGG: hsa03010)
• p53 signaling pathway (via MDM2 interaction)
Protein Summary
Ribosomal protein S27 (eS27) is a small basic protein (84 amino acids) that localizes to the 40S ribosomal subunit. It contains a zinc finger-like domain and is involved in mRNA binding and translation initiation. Beyond its ribosomal role, RPS27 interacts with MDM2 to regulate p53 stability, linking it to cell cycle control and apoptosis. The protein is highly conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS27A Knockout HEK293 Cell Line | EDJ-KQ50596 | Human | 6233 | Details Get a Quote |
| RPS27L Knockout HEK293 Cell Line | EDJ-KQ51276 | Human | 51065 | Details Get a Quote |
| RPS27A Knockout HeLa Cell Line | EDJ-KQ54365 | Human | 6233 | Details Get a Quote |
| RPS27L Knockout HeLa Cell Line | EDJ-KQ56222 | Human | 51065 | Details Get a Quote |
| RPS27A Knockout A-549 Cell Line | EDJ-KQ62861 | Human | 6233 | Details Get a Quote |
| RPS27L Knockout A-549 Cell Line | EDJ-KQ64713 | Human | 51065 | Details Get a Quote |
| RPS27A Knockout HCT 116 Cell Line | EDJ-KQ71326 | Human | 6233 | Details Get a Quote |
| RPS27L Knockout HCT 116 Cell Line | EDJ-KQ73158 | Human | 51065 | Details Get a Quote |
