RPSA (Ribosomal Protein SA): Gene, Function, and Clinical Significance
A comprehensive overview of the RPSA gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | RPSA |
|---|---|
| Full Name | Ribosomal Protein SA |
| Gene Type | protein coding |
| Chromosomal Location | 3p22.1 |
| NCBI Gene ID | 3921 ncbi.nlm.nih.gov/gene/3921 |
| Ensembl ID | ENSG00000168028 |
| UniProt ID | P08865 |
| OMIM ID | 150370 |
| HGNC ID | HGNC:6502 |
| Aliases | LAMBR, LAMR1, 37/67 kDa laminin receptor, SA, p40 |
Description
The RPSA gene encodes the ribosomal protein SA, a component of the 40S ribosomal subunit. This protein is also known as the 37/67 kDa laminin receptor (LAMR1) due to its dual function as a cell surface receptor for laminin, a major component of the extracellular matrix. RPSA is involved in protein synthesis and also plays roles in cell adhesion, migration, and tumor metastasis. It has been implicated in various cancers and infectious diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Overexpression of RPSA promotes tumor invasion and metastasis via laminin binding and activation of signaling pathways. | COSMIC, PubMed |
| Prion diseases | RPSA acts as a receptor for prion proteins, facilitating cellular uptake and propagation. | PubMed |
| Viral infections | Serves as a receptor for several viruses, including Dengue virus and Sindbis virus, mediating entry into host cells. | PubMed |
| Developmental disorders | RPSA mutations have been linked to a rare syndrome with intellectual disability and skeletal abnormalities. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | High |
| Liver | High | High |
| Kidney | High | High |
| Heart | Medium | Medium |
| Lung | Medium | Medium |
| Skeletal muscle | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | High | Cervical cancer cell line |
| MCF7 | High | Breast cancer cell line |
| A549 | Medium | Lung cancer cell line |
| HepG2 | High | Liver cancer cell line |
| K562 | Medium | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.187C>T (p.Arg63Trp) | Missense | Rare | Associated with intellectual disability and skeletal anomalies |
| c.446G>A (p.Arg149His) | Missense | Rare | Potential impact on protein function |
| c.739C>T (p.Arg247Trp) | Missense | Rare | Reported in ClinVar with uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in RPSA are rare and may lead to haploinsufficiency, affecting ribosomal function and cellular processes.
Gain of Function (GOF)
Gain-of-function mutations are not well characterized; overexpression is more common in cancer.
Dominant Negative (DN)
Dominant-negative effects have not been clearly established for RPSA mutations.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • laminin receptor activity |
| • RNA binding | • protein binding |
| • ribosome biogenesis | • cell adhesion |
| • cell migration | • signal transduction |
Pathways
• Cytoplasmic ribosomal proteins
• Laminin signaling
• Extracellular matrix organization
• Prion diseases
Protein Summary
The RPSA protein is synthesized as a 295-amino acid precursor (37 kDa) that undergoes post-translational modification to form the mature 67 kDa laminin receptor. It is localized to the cytoplasm as part of the 40S ribosomal subunit, but also exists on the cell surface where it binds laminin and other ligands. The protein is involved in protein synthesis, cell adhesion, and migration. Its overexpression is associated with tumor progression and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPSA2 Knockout HEK293 Cell Line | EDJ-KQ15127 | Human | 388524 | Details Get a Quote |
| RPSA2 Knockout A-549 Cell Line | EDJ-KQ45720 | Human | 388524 | Details Get a Quote |
| RPSA2 Knockout HCT 116 Cell Line | EDJ-KQ45721 | Human | 388524 | Details Get a Quote |
| RPSA2 Knockout HeLa Cell Line | EDJ-KQ45722 | Human | 388524 | Details Get a Quote |
| RPSA Knockout HEK293 Cell Line | EDJ-KQ50415 | Human | 3921 | Details Get a Quote |
| RPSA Knockout HeLa Cell Line | EDJ-KQ53776 | Human | 3921 | Details Get a Quote |
| RPSA Knockout A-549 Cell Line | EDJ-KQ62255 | Human | 3921 | Details Get a Quote |
| RPSA Knockout HCT 116 Cell Line | EDJ-KQ70740 | Human | 3921 | Details Get a Quote |
