RPP25L
Ribonuclease P/MRP Subunit p25-Like Protein
Gene Information Card
| Symbol | RPP25L |
|---|---|
| Full Name | Ribonuclease P/MRP Subunit p25-Like |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 115416 ncbi.nlm.nih.gov/gene/115416 |
| Ensembl ID | ENSG00000185736 |
| UniProt ID | Q6PML9 |
| OMIM ID | 618731 |
| HGNC ID | 28387 |
| Aliases | bA37E16.3, MGC26694 |
Description
RPP25L encodes a protein that is a component of both RNase P and RNase MRP complexes, which are involved in tRNA processing and rRNA maturation, respectively. The protein is similar to RPP25 and is essential for the assembly and catalytic activity of these ribonucleoprotein complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered expression may affect ribosome biogenesis and cell proliferation | COSMIC, TCGA |
| Primary ciliary dyskinesia (potential) | Defects in RNase MRP can impair ciliary function | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Low |
| Adrenal gland | 6.1 | Low |
| Lung | 5.4 | Low |
| Breast | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 6.2 | Low expression |
| HepG2 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • ribonuclease P activity | • ribonuclease MRP activity |
| • nucleus | • nucleolus |
| • tRNA processing | • rRNA processing |
Pathways
• tRNA processing
• rRNA processing
• Ribosome biogenesis
Protein Summary
RPP25L is a 25 kDa protein that localizes to the nucleus and nucleolus. It is a structural and functional component of RNase P and RNase MRP, contributing to the cleavage of precursor tRNAs and the maturation of rRNA. The protein interacts with other subunits such as RPP30 and POP1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
