RPS27A (Ribosomal Protein S27a)
A dual-function gene encoding ubiquitin and ribosomal protein S27a, involved in protein degradation and translation, with implications in cancer and neurodegeneration.
Gene Information Card
| Symbol | RPS27A |
|---|---|
| Full Name | Ribosomal Protein S27a |
| Gene Type | protein-coding |
| Chromosomal Location | 2p16.1 |
| NCBI Gene ID | 6233 ncbi.nlm.nih.gov/gene/6233 |
| Ensembl ID | ENSG00000143947 |
| UniProt ID | P62979 |
| OMIM ID | 191170 |
| HGNC ID | 10417 |
| Aliases | UBA80, UBCEP1, CEP80, S27A |
Description
RPS27A encodes a fusion protein consisting of ubiquitin at the N-terminus and ribosomal protein S27a at the C-terminus. The ubiquitin moiety is cleaved to release free ubiquitin, which is essential for protein degradation via the ubiquitin-proteasome system. The S27a protein is a component of the 40S ribosomal subunit, playing a role in translation initiation and ribosome biogenesis. RPS27A is involved in cellular stress responses, DNA repair, and cell cycle regulation. Dysregulation of RPS27A has been linked to various cancers and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of RPS27A promotes tumor growth and metastasis by enhancing ribosome biogenesis and protein synthesis, and by modulating ubiquitin-dependent degradation of tumor suppressors. | COSMIC, PubMed |
| Neurodegenerative diseases (e.g., Alzheimer's, Parkinson's) | Altered RPS27A expression may impair ubiquitin-proteasome system, leading to accumulation of misfolded proteins and neuronal cell death. | PubMed |
| Ribosomopathies | Mutations in ribosomal proteins, including RPS27A, can cause ribosome dysfunction, leading to developmental disorders and increased cancer risk. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 18.5 | High |
| Kidney | 14.3 | Medium |
| Lung | 11.9 | Medium |
| Testis | 20.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.7 | Cervical cancer cell line |
| A549 | 15.3 | Lung carcinoma |
| MCF7 | 17.2 | Breast cancer |
| HepG2 | 19.8 | Liver cancer |
| SH-SY5Y | 13.4 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Disrupts translation initiation, reducing protein levels |
| c.157C>T (p.Arg53Ter) | Nonsense | Rare | Truncated protein, likely loss of function |
| c.214G>A (p.Gly72Ser) | Missense | Rare | Alters ubiquitin cleavage, affecting ubiquitin homeostasis |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce RPS27A protein levels or impair its function in ribosome biogenesis or ubiquitin signaling may lead to cellular dysfunction and disease.
Gain of Function (GOF)
Amplification or overexpression of RPS27A can enhance protein synthesis and promote oncogenic transformation.
Dominant Negative (DN)
Certain missense mutations may interfere with the function of the wild-type protein, exerting a dominant-negative effect on ribosome assembly or ubiquitin processing.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • ubiquitin protein ligase binding |
| • protein ubiquitination | • translation |
| • cytoplasmic translation | • ribosome biogenesis |
| • response to stress | • DNA repair |
Pathways
• Ubiquitin-mediated proteolysis
• Ribosome biogenesis
• Translation
• p53 signaling pathway
• Cell cycle
Protein Summary
The RPS27A gene produces a precursor protein that is cleaved into ubiquitin and ribosomal protein S27a. Ubiquitin is a small regulatory protein that tags proteins for degradation, while S27a is a component of the 40S ribosomal subunit. This dual function links protein synthesis and degradation, making RPS27A critical for cellular homeostasis. The protein is localized to the cytoplasm and nucleus, and its expression is ubiquitous but varies across tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS27A Knockout HEK293 Cell Line | EDJ-KQ50596 | Human | 6233 | Details Get a Quote |
| RPS27A Knockout HeLa Cell Line | EDJ-KQ54365 | Human | 6233 | Details Get a Quote |
| RPS27A Knockout A-549 Cell Line | EDJ-KQ62861 | Human | 6233 | Details Get a Quote |
| RPS27A Knockout HCT 116 Cell Line | EDJ-KQ71326 | Human | 6233 | Details Get a Quote |
