RPS27L
Ribosomal Protein S27 Like
Gene Information Card
| Symbol | RPS27L |
|---|---|
| Full Name | Ribosomal Protein S27 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 51065 ncbi.nlm.nih.gov/gene/51065 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q71UM5 |
| OMIM ID | 617573 |
| HGNC ID | 16758 |
| Aliases | S27L, MPS-1, DBA17 |
Description
RPS27L (Ribosomal Protein S27 Like) is a protein-coding gene that encodes a component of the 40S ribosomal subunit. It is involved in ribosome biogenesis, translation, and cellular stress responses. RPS27L is a direct transcriptional target of p53 and plays a role in p53-mediated apoptosis and cell cycle arrest. Mutations in RPS27L are associated with Diamond-Blackfan anemia (DBA) and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia 17 (DBA17) | Loss-of-function mutations impair ribosome assembly, leading to erythroid hypoplasia | OMIM #617573 |
| Colorectal cancer | Overexpression linked to p53 pathway dysregulation and poor prognosis | PubMed: 23431136 |
| Hepatocellular carcinoma | Upregulation associated with tumor progression and metastasis | PubMed: 25944712 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Lymph node | 15.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Liver | 8.1 | Low |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.3 | Embryonic kidney |
| HeLa | 18.7 | Cervical carcinoma |
| HepG2 | 14.5 | Hepatocellular carcinoma |
| K562 | 11.2 | Chronic myelogenous leukemia |
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.95C>T (p.Pro32Leu) | missense | 0.01% | Impaired ribosome assembly, associated with DBA |
| c.148G>A (p.Gly50Arg) | missense | 0.005% | Reduced protein stability, linked to cancer |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt start codon or protein stability reduce ribosomal function, leading to DBA.
Gain of Function (GOF)
Not well characterized; overexpression in tumors may promote cell survival.
Dominant Negative (DN)
Not reported for RPS27L.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • RNA binding |
| • translation | • ribosome biogenesis |
| • apoptotic process | • cellular response to DNA damage stimulus |
Pathways
• Ribosome (KEGG hsa03010)
• p53 signaling pathway (KEGG hsa04115)
• Apoptosis (Reactome R-HSA-109581)
Protein Summary
RPS27L is a 84-amino acid protein (9.5 kDa) that localizes to the cytoplasm and nucleolus. It contains a zinc finger domain and is essential for 40S ribosomal subunit assembly. The protein interacts with MDM2 and p53, modulating p53 stability and activity. RPS27L is upregulated in response to DNA damage and promotes apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS27L Knockout HEK293 Cell Line | EDJ-KQ51276 | Human | 51065 | Details Get a Quote |
| RPS27L Knockout HeLa Cell Line | EDJ-KQ56222 | Human | 51065 | Details Get a Quote |
| RPS27L Knockout A-549 Cell Line | EDJ-KQ64713 | Human | 51065 | Details Get a Quote |
| RPS27L Knockout HCT 116 Cell Line | EDJ-KQ73158 | Human | 51065 | Details Get a Quote |
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