POP1: Processing of Precursor 1, Ribonuclease P/MRP Subunit
A key component of RNase P and RNase MRP complexes involved in tRNA and rRNA processing
Gene Information Card
| Symbol | POP1 |
|---|---|
| Full Name | POP1 homolog, ribonuclease P/MRP subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 8q22.2 |
| NCBI Gene ID | 10940 ncbi.nlm.nih.gov/gene/10940 |
| Ensembl ID | ENSG00000104356 |
| UniProt ID | Q99575 |
| OMIM ID | 602486 |
| HGNC ID | 9243 |
| Aliases | RPP1, RPP40, POP1 (yeast homolog) |
Description
The POP1 gene encodes a protein component of both ribonuclease P (RNase P) and ribonuclease MRP (RNase MRP) complexes. RNase P is responsible for the 5' maturation of transfer RNAs (tRNAs), while RNase MRP is involved in ribosomal RNA (rRNA) processing and cell cycle regulation. POP1 is essential for the structural integrity and catalytic activity of these ribonucleoprotein complexes. Mutations in POP1 are associated with anauxetic dysplasia and other skeletal disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Anauxetic dysplasia | Loss-of-function mutations in POP1 impair RNase MRP activity, disrupting rRNA processing and cartilage development | OMIM #607095; PMID: 22962437 |
| Spondyloepimetaphyseal dysplasia (SEMD) | Compound heterozygous POP1 variants lead to reduced RNase P/MRP function, affecting skeletal growth | ClinVar; PMID: 22962437 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Thyroid | 12.8 | Medium |
| Adrenal gland | 11.5 | Medium |
| Liver | 10.1 | Medium |
| Brain | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical carcinoma |
| HEK 293 | 13.2 | Embryonic kidney |
| K562 | 11.8 | Leukemia |
| HepG2 | 10.9 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1573C>T (p.Arg525*) | Nonsense | Rare | Premature truncation, loss of function |
| c.1246G>A (p.Gly416Arg) | Missense | Rare | Impaired complex assembly |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most POP1 mutations are loss-of-function, leading to reduced RNase P/MRP activity and impaired RNA processing.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; disease is recessive.
View complete mutation data：
Gene Ontology (GO)
| • ribonuclease P activity (GO:0004526) | • rRNA processing (GO:0006364) |
| • tRNA processing (GO:0008033) | • nucleoplasm (GO:0005654) |
| • nucleolus (GO:0005730) |
Pathways
• Ribonuclease P complex (Reactome: R-HSA-5696852)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-8868773)
• tRNA processing (Reactome: R-HSA-72306)
Protein Summary
POP1 is a 921-amino acid protein that serves as a core structural scaffold for RNase P and RNase MRP complexes. It localizes to the nucleolus and nucleoplasm, interacting with both RNA and protein subunits. The protein contains a conserved POP1 domain and is essential for the stability of the complexes. Defects in POP1 disrupt the processing of tRNA and rRNA, leading to cellular dysfunction and skeletal dysplasias.
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