RPP14: Ribonuclease P/MRP Subunit p14
A key component of RNase P and RNase MRP complexes involved in tRNA and rRNA processing
Gene Information Card
| Symbol | RPP14 |
|---|---|
| Full Name | Ribonuclease P/MRP Subunit p14 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3q13.2 |
| NCBI Gene ID | 11102 ncbi.nlm.nih.gov/gene/11102 |
| Ensembl ID | ENSG00000163631 |
| UniProt ID | O95059 |
| OMIM ID | 606112 |
| HGNC ID | 16849 |
| Aliases | hRpp14, RPP14P, RNaseP/MRP 14kDa subunit |
Description
RPP14 encodes the 14 kDa subunit of both ribonuclease P (RNase P) and ribonuclease MRP (RNase MRP) complexes. RNase P is responsible for 5' maturation of transfer RNA (tRNA) precursors, while RNase MRP processes precursor ribosomal RNA (pre-rRNA) and is involved in cell cycle regulation. The RPP14 protein is essential for the catalytic activity and structural integrity of these ribonucleoprotein complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cartilage-Hair Hypoplasia (CHH) | Deficiency in RNase MRP activity due to mutations in RMRP gene; RPP14 mutations may contribute to similar phenotypes | ClinVar, OMIM |
| Primary Immunodeficiency | Altered tRNA processing affecting immune cell function | ClinVar |
| Cancer (various) | Dysregulation of RNase P/MRP components linked to altered cell proliferation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.1 | Low |
| Liver | 6.4 | Low |
| Heart | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 12.8 | Medium expression |
| K562 | 10.1 | Medium expression |
| HepG2 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215G>A (p.Arg72His) | Missense | <0.01% | Unknown functional impact |
| c.328C>T (p.Arg110Trp) | Missense | <0.01% | Potential loss of RNase P binding |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting start codon or critical residues in the RNA-binding domain likely reduce RNase P/MRP activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• tRNA processing (RNase P pathway)
• rRNA processing (RNase MRP pathway)
• Cell cycle regulation (via RNase MRP)
Protein Summary
RPP14 is a 14 kDa protein component of the RNase P and RNase MRP complexes. It contains an RNA-binding domain and is essential for the endonucleolytic cleavage of precursor tRNAs and rRNAs. The protein localizes to the nucleolus and nucleoplasm, and its dysfunction is associated with developmental disorders and cancer.
Related Services
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|---|---|---|---|---|
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