RPP21: Ribonuclease P/MRP Subunit p21
A key component of RNase P and RNase MRP complexes involved in tRNA processing and mitochondrial RNA metabolism.
Gene Information Card
| Symbol | RPP21 |
|---|---|
| Full Name | Ribonuclease P/MRP Subunit p21 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 79827 ncbi.nlm.nih.gov/gene/79827 |
| Ensembl ID | ENSG00000111897 |
| UniProt ID | Q9H633 |
| OMIM ID | 611776 |
| HGNC ID | 24022 |
| Aliases | POP4, RPP21, hPOP4 |
Description
RPP21 encodes a protein component of both ribonuclease P (RNase P) and ribonuclease MRP (RNase MRP). RNase P is responsible for 5' maturation of tRNA precursors, while RNase MRP is involved in mitochondrial RNA processing and rRNA cleavage. The p21 subunit is essential for complex assembly and catalytic activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Anemia, sideroblastic, and B-cell immunodeficiency, periodic fever, and developmental delay (SIFD) | Deficiency of RPP21 disrupts RNase MRP function, impairing mitochondrial RNA processing and leading to multisystem disorder. | OMIM #611776; ClinVar |
| Cancer (various) | Altered RPP21 expression may affect tRNA processing and cell proliferation; somatic mutations reported in COSMIC. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Medium |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical carcinoma |
| K562 | 9.5 | Leukemia |
| HEK293 | 8.8 | Embryonic kidney |
| HepG2 | 7.2 | Hepatocellular carcinoma |
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; reported in ClinVar |
| c.334C>T (p.Arg112Trp) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations causing premature truncation or start loss likely impair RNase P/MRP assembly and catalytic activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
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) |
| • mitochondrion (GO:0005739) | • ribonuclease MRP complex (GO:0030677) |
Pathways
• R-HSA-5696850 - tRNA processing
• R-HSA-6791226 - Major pathway of rRNA processing in the nucleolus and cytosol
• R-HSA-72312 - rRNA processing
Protein Summary
RPP21 is a 21 kDa protein that forms part of the catalytic core of RNase P and RNase MRP. It contains a conserved RNA-binding domain and interacts with other subunits to stabilize the ribonucleoprotein complex. The protein is localized to the nucleolus and mitochondria, reflecting its dual role in nuclear and mitochondrial RNA processing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRIM39-RPP21 Knockout HEK293 Cell Line | EDJ-KQ52138 | Human | 202658 | Details Get a Quote |
| TRIM39-RPP21 Knockout HeLa Cell Line | EDJ-KQ59036 | Human | 202658 | Details Get a Quote |
| TRIM39-RPP21 Knockout A-549 Cell Line | EDJ-KQ67515 | Human | 202658 | Details Get a Quote |
| TRIM39-RPP21 Knockout HCT 116 Cell Line | EDJ-KQ75913 | Human | 202658 | Details Get a Quote |
