POP5
POP5 Homolog, Ribonuclease P/MRP Subunit
Gene Information Card
| Symbol | POP5 |
|---|---|
| Full Name | POP5 Homolog, Ribonuclease P/MRP Subunit |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 51367 ncbi.nlm.nih.gov/gene/51367 |
| Ensembl ID | ENSG00000111247 |
| UniProt ID | Q969H8 |
| OMIM ID | 609882 |
| HGNC ID | 17625 |
| Aliases | RPP2, HSPC004, bA397G5.3 |
Description
POP5 (POP5 Homolog, Ribonuclease P/MRP Subunit) encodes a protein component of both ribonuclease P (RNase P) and ribonuclease MRP (RNase MRP). RNase P is involved in tRNA processing, while RNase MRP functions in rRNA processing and cell cycle regulation. The POP5 protein is essential for the catalytic activity and structural integrity of these ribonucleoprotein complexes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Anauxetic dysplasia 2 | Defects in RNase MRP complex due to POP5 mutations impair rRNA processing and cell cycle control, leading to skeletal dysplasia. | OMIM #618908 |
| Cartilage-hair hypoplasia-like phenotype | Biallelic POP5 variants cause a disorder resembling cartilage-hair hypoplasia, with short stature and immune dysfunction. | ClinVar; PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Thyroid | 12.8 | Medium |
| Adrenal gland | 11.5 | Medium |
| Lymph node | 10.9 | Medium |
| Bone marrow | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | Embryonic kidney cell line |
| HeLa | 13.2 | Cervical cancer cell line |
| K-562 | 11.0 | Leukemia cell line |
| A549 | 10.3 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.94C>T (p.Arg32Trp) | Missense | Rare | Loss of protein stability; associated with anauxetic dysplasia 2 |
| c.197G>A (p.Arg66Gln) | Missense | Rare | Impaired RNase MRP activity; reported in cartilage-hair hypoplasia-like phenotype |
| c.1A>G (p.Met1Val) | Start loss | Rare | Complete loss of translation; pathogenic in compound heterozygosity |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations reduce or abolish POP5 protein function, disrupting RNase P/MRP complex assembly and catalytic activity.
Gain of Function (GOF)
No gain-of-function mutations reported for POP5.
Dominant Negative (DN)
No dominant-negative mutations reported; all pathogenic variants are recessive.
View complete mutation data：
Gene Ontology (GO)
| • ribonuclease P activity (GO:0004526) | • ribonuclease MRP activity (GO:0000172) |
| • tRNA 5'-leader removal (GO:0001682) | • rRNA processing (GO:0006364) |
| • nucleus (GO:0005634) | • nucleolus (GO:0005730) |
Pathways
• tRNA processing (Reactome: R-HSA-72306)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-8868773)
• RNase MRP pathway (KEGG: hsa03018)
Protein Summary
POP5 is a 164-amino-acid protein that forms part of the RNase P and RNase MRP ribonucleoprotein complexes. It interacts with other protein subunits and the RNA component to facilitate substrate recognition and catalysis. The protein is localized to the nucleus and nucleolus, consistent with its roles in tRNA and rRNA maturation. Structural studies indicate that POP5 contributes to the active site architecture of RNase P.
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