RPP25: Ribonuclease P/MRP Subunit p25
A key component of RNase P and RNase MRP complexes involved in tRNA and rRNA processing
Gene Information Card
| Symbol | RPP25 |
|---|---|
| Full Name | Ribonuclease P/MRP Subunit p25 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q15.3 |
| NCBI Gene ID | 54913 ncbi.nlm.nih.gov/gene/54913 |
| Ensembl ID | ENSG00000137801 |
| UniProt ID | Q9BUL9 |
| OMIM ID | 610766 |
| HGNC ID | 30294 |
| Aliases | bA59I9.1, hPOP7, RPP25L |
Description
RPP25 encodes the 25 kDa 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 participates in pre-rRNA processing and cell cycle regulation. The p25 subunit is essential for the structural integrity and catalytic activity of these ribonucleoprotein complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Anemia, congenital dyserythropoietic, type III (CDAN3) | Defective RNase MRP complex leads to impaired rRNA processing and erythropoiesis | OMIM #610766; PMID: 22689602 |
| Cartilage-hair hypoplasia (CHH) | RPP25 mutations disrupt RNase MRP function, affecting cell proliferation and skeletal development | OMIM #250250; PMID: 11704926 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Spleen | 8.7 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.1 | High expression |
| HeLa | 12.4 | Medium expression |
| K562 | 11.0 | Medium expression |
| HepG2 | 9.2 | Low expression |
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.143G>A (p.Arg48His) | Missense | <0.01% | Reduced RNase P/MRP activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that abolish p25 expression or disrupt complex assembly lead to reduced RNase P/MRP activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • ribonuclease P activity (GO:0004526) | • rRNA processing (GO:0006364) |
| • tRNA processing (GO:0008033) | • nucleoplasm (GO:0005654) |
| • nucleolus (GO:0005730) |
Pathways
• R-HSA-72312 - rRNA processing in the nucleus and cytosol
• R-HSA-6781823 - Formation of RNase P complex
• R-HSA-6781827 - Formation of RNase MRP complex
Protein Summary
RPP25 is a 25 kDa protein component of RNase P and RNase MRP complexes. It contains a conserved RNA-binding domain and is required for the assembly and catalytic function of these ribonucleoprotein enzymes. The protein localizes to the nucleolus and nucleoplasm, participating in tRNA 5' leader removal and pre-rRNA cleavage. Defects in RPP25 are associated with congenital dyserythropoietic anemia type III and cartilage-hair hypoplasia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPP25 Knockout HEK293 Cell Line | EDJ-KQ15122 | Human | 54913 | Details Get a Quote |
| RPP25 Knockout A-549 Cell Line | EDJ-KQ45714 | Human | 54913 | Details Get a Quote |
| RPP25 Knockout HCT 116 Cell Line | EDJ-KQ45715 | Human | 54913 | Details Get a Quote |
| RPP25 Knockout HeLa Cell Line | EDJ-KQ45716 | Human | 54913 | Details Get a Quote |
