RPP40: Ribonuclease P/MRP Subunit p40
A key component of RNase P and RNase MRP complexes involved in tRNA processing and mitochondrial RNA metabolism
Gene Information Card
| Symbol | RPP40 |
|---|---|
| Full Name | Ribonuclease P/MRP Subunit p40 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 10799 ncbi.nlm.nih.gov/gene/10799 |
| Ensembl ID | ENSG00000124787 |
| UniProt ID | O75818 |
| OMIM ID | 606115 |
| HGNC ID | 16829 |
| Aliases | RNASEP1, RPP1, RPP40, p40 |
Description
RPP40 encodes the p40 subunit of the 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 p40 subunit is essential for the structural integrity and catalytic activity of these complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered RPP40 expression may disrupt tRNA processing and mitochondrial function, contributing to tumorigenesis. | COSMIC database reports somatic mutations in multiple cancer types. |
| Mitochondrial disorders | Defects in RNase MRP complex (including RPP40) can impair mitochondrial RNA processing, leading to respiratory chain dysfunction. | OMIM #606115; limited direct evidence, inferred from complex function. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 8.2 | Medium |
| Lymph node | 7.1 | Medium |
| Brain | 5.3 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cell line |
| HeLa | 9.5 | Cervical cancer cell line |
| K562 | 8.7 | Leukemia cell line |
| HepG2 | 7.3 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.1% | Potential loss of start codon, likely loss of function |
| c.200C>T (p.Pro67Leu) | Missense | <0.1% | Unknown effect; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Missense mutations affecting conserved residues may disrupt RNase P/MRP complex assembly or catalytic activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations in RPP40.
Dominant Negative (DN)
Not reported; heterozygous mutations may reduce complex activity but dominant-negative effects are unconfirmed.
View complete mutation data：
Gene Ontology (GO)
| • tRNA 5'-leader removal | • ribonuclease P activity |
| • mitochondrial RNA processing | • nucleic acid binding |
| • protein binding |
Pathways
• tRNA processing (RNase P pathway)
• Mitochondrial RNA metabolism (RNase MRP pathway)
Protein Summary
RPP40 is a 40 kDa protein that forms part of the RNase P and RNase MRP ribonucleoprotein complexes. It contains a conserved RNA-binding domain and is essential for the endonucleolytic cleavage of precursor tRNAs and mitochondrial RNAs. The protein localizes to the nucleus and mitochondria.
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