RPP38: Ribonuclease P/MRP Subunit p38
A key component of RNase P and RNase MRP complexes involved in tRNA processing and mitochondrial RNA metabolism
Gene Information Card
| Symbol | RPP38 |
|---|---|
| Full Name | Ribonuclease P/MRP Subunit p38 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p13 |
| NCBI Gene ID | 10557 ncbi.nlm.nih.gov/gene/10557 |
| Ensembl ID | ENSG00000120049 |
| UniProt ID | P78345 |
| OMIM ID | 606115 |
| HGNC ID | 10401 |
| Aliases | RNaseP p38, RNase MRP p38, POP5 |
Description
RPP38 encodes the p38 subunit of both ribonuclease P (RNase P) and ribonuclease MRP (RNase MRP) complexes. RNase P is responsible for 5' maturation of precursor tRNAs, while RNase MRP processes mitochondrial RNA and is involved in cell cycle regulation. The p38 subunit is essential for the structural integrity and catalytic activity of these ribonucleoprotein complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cartilage-hair hypoplasia (CHH) | RPP38 mutations impair RNase MRP function, disrupting mitochondrial RNA processing and cell cycle progression, leading to skeletal dysplasia and immunodeficiency. | OMIM #250250; ClinVar |
| Hepatocellular carcinoma | Overexpression of RPP38 in liver tumors correlates with altered tRNA processing and increased proliferation. | COSMIC; PubMed studies |
| Breast cancer | RPP38 copy number gains and elevated expression observed in invasive ductal carcinoma, potentially affecting ribosome biogenesis. | COSMIC; TCGA data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Liver | 10.8 | Medium |
| Kidney | 9.5 | Medium |
| Heart | 7.3 | Low |
| Brain | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line |
| HepG2 | 11.7 | Hepatocellular carcinoma cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| A549 | 8.2 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215G>A (p.Arg72His) | Missense | <0.1% | Reduced RNase P activity; associated with CHH |
| c.328C>T (p.Arg110Trp) | Missense | <0.1% | Impaired RNase MRP function; reported in CHH |
| c.449_450insA (p.Asn150Lysfs*2) | Frameshift | <0.1% | Loss of function; truncation of p38 subunit |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations in RPP38 reduce or abolish RNase P/MRP catalytic activity, leading to defective tRNA and mitochondrial RNA processing.
Gain of Function (GOF)
No gain-of-function mutations reported for RPP38.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg72His) may exert dominant-negative effects by incorporating into the RNase P/MRP complex and disrupting assembly.
View complete mutation data：
Gene Ontology (GO)
| • ribonuclease P activity (GO:0004526) | • rRNA processing (GO:0006364) |
| • tRNA processing (GO:0008033) | • nucleoplasm (GO:0005654) |
| • mitochondrion (GO:0005739) |
Pathways
• Ribonuclease P pathway (Reactome: R-HSA-5696852)
• tRNA processing (Reactome: R-HSA-72306)
• Mitochondrial RNA processing (Reactome: R-HSA-6790901)
Protein Summary
The RPP38 protein (p38) is a 38 kDa subunit of the RNase P and RNase MRP ribonucleoprotein complexes. It contains a conserved RNA-binding domain and interacts with the RNA component (RPPH1) to stabilize the complex. p38 is essential for the endonucleolytic cleavage of precursor tRNAs and mitochondrial RNA. The protein is localized in the nucleolus and mitochondria.
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