POP7: Processing of Precursor 7, Ribonuclease P/MRP Subunit
A key component of RNase P and RNase MRP complexes involved in tRNA and rRNA processing
Gene Information Card
| Symbol | POP7 |
|---|---|
| Full Name | POP7 homolog, ribonuclease P/MRP subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 10248 ncbi.nlm.nih.gov/gene/10248 |
| Ensembl ID | ENSG00000106336 |
| UniProt ID | O75817 |
| OMIM ID | 606113 |
| HGNC ID | 30149 |
| Aliases | RPP2, RPP20, RNase P protein subunit p20 |
Description
POP7 encodes a protein component of both ribonuclease P (RNase P) and ribonuclease MRP (RNase MRP). RNase P is involved in processing precursor tRNA molecules, while RNase MRP processes precursor rRNA. The POP7 protein is essential for the assembly and catalytic activity of these ribonucleoprotein complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cartilage-hair hypoplasia | Mutations in POP7 may disrupt RNase MRP function, affecting rRNA processing and cell proliferation | PMID: 16960809 |
| Anauxetic dysplasia | Defects in RNase MRP components, including POP7, impair skeletal development | PMID: 20513132 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Thyroid | 11.5 | Medium |
| Adrenal gland | 10.9 | Medium |
| Bone marrow | 10.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | High expression |
| HeLa | 12.1 | Medium expression |
| K-562 | 11.8 | Medium expression |
| MCF7 | 10.5 | Medium 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.2T>C | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in POP7 are predicted to impair RNase P and RNase MRP activity, leading to defects in tRNA and rRNA processing.
Gain of Function (GOF)
No gain-of-function mutations have been reported for POP7.
Dominant Negative (DN)
Dominant-negative effects have not been described for POP7 mutations.
View complete mutation data：
Gene Ontology (GO)
| • ribonuclease P activity | • ribonuclease MRP activity |
| • tRNA processing | • rRNA processing |
| • nucleus | • nucleolus |
Pathways
• tRNA processing
• rRNA processing in the nucleolus
Protein Summary
POP7 is a 20 kDa protein that forms part of the RNase P and RNase MRP complexes. It contains a conserved RNA-binding domain and is essential for the structural integrity and catalytic function of these complexes. The protein localizes to the nucleus and nucleolus.
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