RPLP1
Ribosomal Protein Lateral Stalk Subunit P1
Gene Information Card
| Symbol | RPLP1 |
|---|---|
| Full Name | Ribosomal Protein Lateral Stalk Subunit P1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 6176 ncbi.nlm.nih.gov/gene/6176 |
| Ensembl ID | ENSG00000137818 |
| UniProt ID | P05386 |
| OMIM ID | 180520 |
| HGNC ID | 10376 |
| Aliases | LP1, P1, RPP1 |
Description
RPLP1 encodes a ribosomal protein that is a component of the 60S large ribosomal subunit. The protein belongs to the P1 family of ribosomal proteins and forms part of the lateral stalk structure, which is involved in the binding of translation elongation factors during protein synthesis. RPLP1 is ubiquitously expressed and plays a role in ribosome biogenesis and translational regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | RPLP1 mutations impair ribosome assembly, leading to reduced erythroid progenitor cell survival | ClinVar, OMIM |
| Colorectal cancer | Overexpression of RPLP1 promotes cell proliferation and metastasis | COSMIC, PubMed |
| Hepatocellular carcinoma | Upregulation of RPLP1 correlates with poor prognosis and increased tumor growth | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 28.5 | High |
| Kidney | 22.1 | High |
| Heart | 18.3 | Medium |
| Brain | 15.7 | Medium |
| Lung | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 32.1 | High expression |
| HeLa | 29.8 | High expression |
| HepG2 | 27.4 | High expression |
| K562 | 24.6 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.128A>G (p.Lys43Arg) | missense | <0.01% | Unknown functional impact |
| c.205C>T (p.Arg69Trp) | missense | <0.01% | Associated with Diamond-Blackfan anemia |
| c.1A>G (p.Met1Val) | start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Start loss and nonsense mutations reduce or abolish RPLP1 protein production, impairing ribosome function.
Gain of Function (GOF)
Missense mutations may alter protein stability or interactions, potentially enhancing translation in cancer cells.
Dominant Negative (DN)
Not reported for RPLP1.
View complete mutation data：
Gene Ontology (GO)
| • structural constituent of ribosome | • translation elongation factor binding |
| • large ribosomal subunit | • cytoplasm |
| • ribosome biogenesis |
Pathways
• Eukaryotic translation elongation
• Ribosome biogenesis in eukaryotes
• rRNA processing
Protein Summary
RPLP1 is a 115-amino-acid protein (11.5 kDa) that localizes to the cytoplasm and nucleolus. It forms a homodimer and interacts with RPLP0 and RPLP2 to assemble the ribosomal stalk. The protein undergoes phosphorylation at serine residues, which regulates its association with the ribosome and translation activity.
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