RPP30: Ribonuclease P/MRP Subunit p30
A key component of RNase P and RNase MRP complexes involved in tRNA processing and mitochondrial RNA metabolism
Gene Information Card
| Symbol | RPP30 |
|---|---|
| Full Name | Ribonuclease P/MRP Subunit p30 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q23.31 |
| NCBI Gene ID | 10556 ncbi.nlm.nih.gov/gene/10556 |
| Ensembl ID | ENSG00000148795 |
| UniProt ID | P78346 |
| OMIM ID | 606115 |
| HGNC ID | 10421 |
| Aliases | RNASEP1, RPP30, RPP30_HUMAN |
Description
RPP30 encodes the 30 kDa subunit of ribonuclease P (RNase P) and ribonuclease MRP (RNase MRP). RNase P is responsible for 5' maturation of precursor tRNAs, while RNase MRP processes mitochondrial RNA and is involved in cell cycle regulation. The RPP30 protein is essential for the catalytic activity of both complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Anauxetic dysplasia 2 | Defects in RPP30 impair RNase MRP function, disrupting mitochondrial RNA processing and cartilage development | OMIM #618194 |
| Cartilage-hair hypoplasia-like syndrome | RPP30 mutations cause reduced RNase P/MRP activity, leading to skeletal dysplasia and immune defects | ClinVar |
| Primary microcephaly | Biallelic RPP30 variants associated with reduced brain growth, possibly due to altered cell cycle regulation | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.9 | Medium |
| Liver | 7.1 | Low |
| Heart | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | High expression |
| HeLa | 11.7 | Moderate expression |
| K562 | 9.5 | Moderate expression |
| HepG2 | 7.2 | 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.205C>T (p.Arg69Trp) | Missense | Rare | Impaired RNase P/MRP assembly |
| c.404G>A (p.Arg135Gln) | Missense | Rare | Reduced catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations in RPP30 cause anauxetic dysplasia 2 and cartilage-hair hypoplasia-like syndrome.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Heterozygous missense variants may exert dominant-negative effects on RNase P/MRP complex 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
• R-HSA-72312 - rRNA processing
• R-HSA-72306 - tRNA processing
• R-HSA-6790901 - RNase MRP pathway
Protein Summary
RPP30 is a 30 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 RNA. The protein localizes to the nucleolus and mitochondria.
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