PRIMPOL
Primase and DNA Directed Polymerase
Gene Information Card
| Symbol | PRIMPOL |
|---|---|
| Full Name | Primase and DNA Directed Polymerase |
| Gene Type | Protein coding |
| Chromosomal Location | 4q35.1 |
| NCBI Gene ID | 201973 ncbi.nlm.nih.gov/gene/201973 |
| Ensembl ID | ENSG00000164330 |
| UniProt ID | Q96LW9 |
| OMIM ID | 615421 |
| HGNC ID | 26515 |
| Aliases | C4orf32, FLJ33167, MYP1, PRIMPOL1 |
Description
PRIMPOL encodes a primase and DNA-directed polymerase involved in nuclear and mitochondrial DNA replication. It possesses both primase and polymerase activities, enabling it to reprime stalled replication forks and facilitate translesion synthesis. The protein is critical for maintaining genome stability, particularly under replication stress, and is implicated in mitochondrial DNA maintenance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| High myopia (MYP1) | Loss-of-function variants in PRIMPOL impair mitochondrial DNA replication, leading to retinal degeneration and high myopia. | OMIM #615421 |
| Colorectal cancer | Somatic mutations in PRIMPOL may contribute to genomic instability and tumor progression. | COSMIC |
| Breast cancer | Altered PRIMPOL expression is associated with replication stress response in breast tumors. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 6.8 | Medium |
| Lymph node | 4.2 | Low |
| Brain | 3.1 | Low |
| Liver | 2.5 | Low |
| Heart | 1.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.4 | Embryonic kidney cells |
| HeLa | 4.1 | Cervical carcinoma cells |
| HCT116 | 3.8 | Colorectal carcinoma cells |
| MCF7 | 2.9 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1364C>T (p.Pro455Leu) | Missense | 0.01% | Reduced polymerase activity; associated with high myopia |
| c.1483G>A (p.Gly495Arg) | Missense | 0.005% | Impaired primase activity; linked to mitochondrial dysfunction |
| c.1742delC (p.Pro581Leufs*2) | Frameshift | <0.001% | Loss of function; reported in colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce or abolish primase/polymerase activity, leading to replication stress and mitochondrial defects.
Gain of Function (GOF)
Not documented in PRIMPOL.
Dominant Negative (DN)
Not documented in PRIMPOL.
View complete mutation data：
Gene Ontology (GO)
| • DNA primase activity (GO:0003896) | • DNA-directed DNA polymerase activity (GO:0003887) |
| • DNA replication (GO:0006260) | • Translesion synthesis (GO:0019985) |
| • Mitochondrial DNA replication (GO:0006264) | • Nucleus (GO:0005634) |
| • Mitochondrion (GO:0005739) |
Pathways
• Translesion synthesis (TLS) pathway
• Mitochondrial DNA replication
• Fanconi anemia pathway (related to replication stress)
Protein Summary
PRIMPOL is a 582-amino acid protein with an N-terminal primase domain and a C-terminal polymerase domain. It functions as a monomer, synthesizing short RNA primers and extending them with DNA. The protein localizes to both the nucleus and mitochondria, where it supports replication fork restart and bypasses DNA lesions. Its activity is regulated by post-translational modifications and interactions with replication factors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRIMPOL Knockout HEK293 Cell Line | EDJ-KQ5011 | Human | 201973 | Details Get a Quote |
| PRIMPOL Knockout A-549 Cell Line | EDJ-KQ27921 | Human | 201973 | Details Get a Quote |
| PRIMPOL Knockout HCT 116 Cell Line | EDJ-KQ27922 | Human | 201973 | Details Get a Quote |
| PRIMPOL Knockout HeLa Cell Line | EDJ-KQ27923 | Human | 201973 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
