PIF1 (PIF1 5'-to-3' DNA Helicase)
A key regulator of genome stability, telomere maintenance, and DNA replication.
Gene Information Card
| Symbol | PIF1 |
|---|---|
| Full Name | PIF1 5'-to-3' DNA helicase |
| Gene Type | Protein coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 80119 ncbi.nlm.nih.gov/gene/80119 |
| Ensembl ID | ENSG00000124212 |
| UniProt ID | Q9H611 |
| OMIM ID | 610353 |
| HGNC ID | 26220 |
| Aliases | C15orf20, PIF, PIF1 helicase |
Description
The PIF1 gene encodes a 5'-to-3' DNA helicase involved in multiple aspects of DNA metabolism, including DNA replication, repair, and telomere maintenance. It unwinds DNA/RNA hybrids (R-loops) and G-quadruplex structures, thereby preventing replication fork stalling and genomic instability. PIF1 is conserved from yeast to humans and plays a critical role in maintaining genome integrity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Burkitt lymphoma | PIF1 mutations may contribute to genomic instability and oncogenesis, though the exact mechanism is not fully defined. | COSMIC database lists PIF1 mutations in Burkitt lymphoma samples. |
| Breast cancer | Altered PIF1 expression or mutations may affect DNA repair pathways, potentially influencing tumor progression. | ClinVar and COSMIC report somatic variants in breast cancer. |
| Prostate cancer | Somatic mutations in PIF1 have been observed, possibly affecting DNA replication fidelity. | COSMIC database includes PIF1 variants in prostate cancer. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 7.1 | Low |
| Brain | 5.4 | Low |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 10.3 | Chronic myelogenous leukemia; moderate expression |
| HeLa | 8.9 | Cervical adenocarcinoma; moderate expression |
| A549 | 7.2 | Lung carcinoma; low expression |
| MCF7 | 6.5 | Breast adenocarcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.R223H | Missense | 0.01% (gnomAD) | Unknown; may affect helicase activity. |
| p.L392V | Missense | 0.005% (gnomAD) | Unknown; potential impact on protein stability. |
| p.S405L | Missense | 0.02% (COSMIC) | Somatic; observed in cancer, functional impact not characterized. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in PIF1 are rare and may lead to increased genomic instability, but no germline pathogenic variants have been established.
Gain of Function (GOF)
No evidence for gain-of-function mutations in PIF1.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA helicase activity | • ATP binding |
| • DNA binding | • RNA-DNA hybrid helicase activity |
| • G-quadruplex DNA binding | • DNA replication |
| • DNA repair | • telomere maintenance |
Pathways
• Telomere maintenance
• DNA replication
• Homologous recombination
• Fanconi anemia pathway
Protein Summary
The PIF1 protein is a 5'-to-3' DNA helicase that unwinds DNA duplexes, RNA-DNA hybrids, and G-quadruplex structures. It is involved in replication fork progression, resolution of replication barriers, and telomere length regulation. PIF1 interacts with proteins such as PCNA and RPA, and its activity is regulated by post-translational modifications. It is localized to the nucleus and mitochondria, where it contributes to mitochondrial DNA maintenance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIF1 Knockout HEK293 Cell Line | EDJ-KQ9451 | Human | 80119 | Details Get a Quote |
| PIF1 Knockout A-549 Cell Line | EDJ-KQ36142 | Human | 80119 | Details Get a Quote |
| PIF1 Knockout HCT 116 Cell Line | EDJ-KQ36143 | Human | 80119 | Details Get a Quote |
| PIF1 Knockout HeLa Cell Line | EDJ-KQ36144 | Human | 80119 | Details Get a Quote |
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