POP4: A Key Component of RNase MRP and RNase P Complexes
Essential for pre-rRNA processing and mitochondrial DNA replication
Gene Information Card
| Symbol | POP4 |
|---|---|
| Full Name | POP4 homolog, ribonuclease P/MRP subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 10767 ncbi.nlm.nih.gov/gene/10767 |
| Ensembl ID | ENSG00000105329 |
| UniProt ID | O95707 |
| OMIM ID | 606113 |
| HGNC ID | 17658 |
| Aliases | RPP29, POP4 (S. cerevisiae homolog) |
Description
The POP4 gene encodes a protein component of both RNase MRP (mitochondrial RNA processing) and RNase P (ribonuclease P) complexes. RNase MRP is involved in pre-rRNA processing and mitochondrial DNA replication, while RNase P is essential for tRNA 5' end maturation. POP4 is critical for the structural integrity and catalytic activity of these ribonucleoprotein complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Anauxetic dysplasia | Loss-of-function mutations in POP4 impair RNase MRP activity, disrupting rRNA processing and mitochondrial function, leading to skeletal dysplasia and growth retardation. | OMIM #607095; PMID: 23643382 |
| Cartilage-hair hypoplasia-like phenotype | Defects in POP4 may contribute to phenotypes overlapping with cartilage-hair hypoplasia due to shared RNase MRP dysfunction. | PMID: 23643382 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 18.2 | Medium |
| Lymph node | 15.1 | Medium |
| Bone marrow | 14.8 | Medium |
| Brain | 12.5 | Medium |
| Heart | 11.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 20.5 | High expression |
| HeLa | 18.3 | High expression |
| K562 | 15.7 | Medium expression |
| HepG2 | 14.2 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; associated with anauxetic dysplasia |
| c.544G>A (p.Gly182Arg) | Missense | Rare | Likely damaging; disrupts protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations reduce POP4 protein levels or disrupt complex assembly, impairing RNase MRP and RNase P activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported; mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • ribonuclease P activity (GO:0004526) | • rRNA processing (GO:0006364) |
| • tRNA processing (GO:0008033) | • nucleolar ribonuclease P complex (GO:0030681) |
| • nucleolar ribonuclease MRP complex (GO:0005655) |
Pathways
• Ribosome biogenesis (Reactome: R-HSA-6791226)
• tRNA processing (Reactome: R-HSA-72306)
• Mitochondrial RNA processing (Reactome: R-HSA-6790901)
Protein Summary
POP4 is a 220-amino-acid protein (25 kDa) that localizes to the nucleolus and mitochondria. It contains a conserved RNA-binding domain and interacts with other RNase P/MRP subunits (e.g., POP1, RPP30). The protein is essential for pre-rRNA cleavage at site A3 and for mitochondrial DNA replication primer processing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
