RPLP0
Ribosomal Protein Lateral Stalk Subunit P0
Gene Information Card
| Symbol | RPLP0 |
|---|---|
| Full Name | ribosomal protein lateral stalk subunit P0 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.23 |
| NCBI Gene ID | 6175 ncbi.nlm.nih.gov/gene/6175 |
| Ensembl ID | ENSG00000089157 |
| UniProt ID | P05388 |
| OMIM ID | 180510 |
| HGNC ID | 10371 |
| Aliases | L10E, P0, PRLP0, RPP0 |
Description
RPLP0 encodes the 60S acidic ribosomal protein P0, a component of the ribosomal stalk that is essential for translation elongation. It is a widely used housekeeping gene for normalization in gene expression studies due to its stable expression across tissues. The protein is part of the P1/P2 complex at the ribosome's large subunit, involved in GTPase activation during protein synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diamond-Blackfan anemia | RPLP0 mutations impair ribosome biogenesis, leading to erythroid hypoplasia | ClinVar: pathogenic variants reported |
| Cancer (various) | Altered RPLP0 expression linked to tumor progression and poor prognosis | COSMIC: somatic mutations in multiple cancer types |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 15.2 | Medium |
| Heart | 18.1 | Medium |
| Liver | 20.3 | High |
| Lung | 14.7 | Medium |
| Muscle | 16.8 | Medium |
| Pancreas | 13.9 | Medium |
| Spleen | 19.4 | High |
| Testis | 22.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 25.3 | Cervical cancer cell line |
| HEK293 | 23.8 | Embryonic kidney cell line |
| K562 | 21.5 | Leukemia cell line |
| MCF7 | 19.7 | Breast cancer cell line |
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.284C>T (p.Thr95Ile) | missense | 0.01% | Unknown functional impact |
| c.500_501del (p.Glu167Glyfs*3) | frameshift | Rare | Loss of function, associated with Diamond-Blackfan anemia |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss variants reduce or abolish protein function, linked to Diamond-Blackfan anemia.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Not established for RPLP0.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • structural constituent of ribosome |
| • translation elongation factor activity | • large ribosomal subunit rRNA binding |
| • cytoplasmic translation |
Pathways
• Eukaryotic translation elongation (Reactome: R-HSA-156842)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-8868773)
• GTP hydrolysis and joining of the 60S ribosomal subunit (Reactome: R-HSA-72706)
Protein Summary
RPLP0 encodes the 60S acidic ribosomal protein P0, a key component of the ribosomal stalk that interacts with translation elongation factors. It is highly conserved and expressed ubiquitously. The protein is involved in the GTPase activation step of translation elongation and is essential for ribosome function. Mutations in RPLP0 are associated with Diamond-Blackfan anemia, and altered expression is observed in various cancers.
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