RPS3A
Ribosomal Protein S3A: A Component of the 40S Ribosomal Subunit with Extraribosomal Functions in Apoptosis and DNA Repair
Gene Information Card
| Symbol | RPS3A |
|---|---|
| Full Name | Ribosomal Protein S3A |
| Gene Type | protein-coding |
| Chromosomal Location | 4q31.3 |
| NCBI Gene ID | 6189 ncbi.nlm.nih.gov/gene/6189 |
| Ensembl ID | ENSG00000145425 |
| UniProt ID | P61247 |
| OMIM ID | 180468 |
| HGNC ID | 10421 |
| Aliases | S3A, MFTL, eS1 |
Description
RPS3A encodes ribosomal protein S3A, a component of the 40S small ribosomal subunit. Beyond its canonical role in protein synthesis, RPS3A exhibits extraribosomal functions including involvement in apoptosis, DNA repair, and cell cycle regulation. It is implicated in Diamond-Blackfan anemia and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | Loss-of-function mutations in RPS3A impair ribosome biogenesis, leading to erythroid hypoplasia | ClinVar; OMIM #180468 |
| Colorectal cancer | Overexpression of RPS3A promotes cell proliferation and inhibits apoptosis | COSMIC; PMID: 25605248 |
| Hepatocellular carcinoma | Upregulation of RPS3A correlates with poor prognosis and enhanced tumor growth | COSMIC; PMID: 27864367 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.3 | Medium |
| Heart | 8.7 | Low |
| Brain | 7.1 | Low |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.8 | Cervical cancer cell line |
| HEK293 | 13.2 | Embryonic kidney cell line |
| HepG2 | 16.1 | Hepatocellular carcinoma cell line |
| A549 | 11.5 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3G>A (p.Met1?) | Missense | <0.01% | Loss of start codon; associated with Diamond-Blackfan anemia |
| c.175C>T (p.Arg59Trp) | Missense | <0.01% | Impaired ribosome assembly; reported in Diamond-Blackfan anemia |
| c.482A>G (p.Lys161Arg) | Missense | 0.02% | Unknown significance; observed in cancer samples |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.Met1? and p.Arg59Trp reduce ribosomal protein S3A levels, impairing ribosome biogenesis and causing Diamond-Blackfan anemia.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established for RPS3A.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • mRNA binding |
| • DNA repair | • apoptotic process |
| • translation |
Pathways
• Eukaryotic translation initiation
• Ribosome biogenesis
• p53 signaling pathway
Protein Summary
Ribosomal protein S3A (eS1) is a 30 kDa protein that forms part of the 40S ribosomal subunit. It contains a conserved S3A domain and is involved in mRNA binding during translation. Extraribosomally, it participates in DNA damage response and apoptosis regulation through interactions with p53 and other factors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPS3A Knockout HEK293 Cell Line | EDJ-KQ50588 | Human | 6189 | Details Get a Quote |
| RPS3A Knockout HeLa Cell Line | EDJ-KQ54356 | Human | 6189 | Details Get a Quote |
| RPS3A Knockout A-549 Cell Line | EDJ-KQ62852 | Human | 6189 | Details Get a Quote |
| RPS3A Knockout HCT 116 Cell Line | EDJ-KQ71318 | Human | 6189 | Details Get a Quote |
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