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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PIF1
PIF1 5'-to-3' DNA helicase
Chromosome 15 · 15q22.31
NCBI Gene: 80119Ensembl: ENSG00000140451.14HGNC: HGNC:26220UniProt: Q9H611
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
magnesium ion binding5'-3' DNA/RNA helicase activitytelomeric repeat DNA bindingprotein-DNA-RNA complex disassemblyneurodegenerative diseasebronchiectasisnonpapillary renal cell carcinomalung adenocarcinoma
✦AI Summary

PIF1 is a conserved 5'-to-3' DNA helicase essential for maintaining nuclear and mitochondrial genome stability 1. PIF1 functions primarily through ATP-dependent unwinding of DNA and RNA-DNA hybrid structures, with particular efficiency against G-quadruplex (G4) DNA structures 2. By resolving G4 structures at guanine-rich genomic regions, PIF1 prevents replication fork stalling and double-strand breaks that would otherwise compromise genomic stability 3. Beyond G4 resolution, PIF1 participates in R-loop metabolism, resolving RNA-DNA hybrids formed during transcription and other cellular processes 4. PIF1 plays a critical regulatory role in telomere maintenance by negatively regulating telomerase activity—it unwinds the RNA-DNA hybrid intermediate of the telomerase reaction, thereby inhibiting telomere elongation and blocking telomere addition to double-strand breaks 1. Additional functions include facilitating Okazaki fragment processing and promoting replication fork progression through various barriers including tRNA genes and rDNA loci 5. PIF1 recruitment to DNA sites depends on interactions with replication protein A (RPA) and proliferating cell nuclear antigen (PCNA), enabling its dual-anchoring at replication forks 6. These multifaceted roles underscore PIF1's importance in coordinating DNA replication, repair, and telomere regulation for cellular viability.

Sources cited
1
PIF1 family helicases maintain nuclear and mitochondrial DNA; PIF1 negatively regulates telomerase and unwinds RNA-DNA hybrid intermediates
PMID: 28900015
2
PIF1 efficiently unfolds G-quadruplex structures; G4 helicases including PIF1 are discussed as mechanisms for G4 unfolding
PMID: 34459951
3
G-quadruplex structures may be unfolded enzymatically by helicase enzymes like PIF1
PMID: 26883636
4
PIF1 is reported to resolve R-loops, which consist of RNA-DNA hybrids and displaced single-strand DNA
PMID: 37778731
5
PIF1 helicases promote replication through G-quadruplex DNA, rDNA barriers, tRNA genes, and R-loops; regulate telomerase and promote Okazaki fragment maturation
PMID: 35409096
6
PIF1 recruitment depends on RPA and PCNA interactions; both recruitment mechanisms are essential for fork-related functions
PMID: 38480846
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.36Weak
bronchiectasisOpen Targets
0.31Weak
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
Mobius syndromeOpen Targets
0.05Suggestive
non-small cell lung carcinomaOpen Targets
0.05Suggestive
lung cancerOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.04Suggestive
cervical cancerOpen Targets
0.04Suggestive
Wilson diseaseOpen Targets
0.03Suggestive
ovarian cancerOpen Targets
0.03Suggestive
renal carcinomaOpen Targets
0.03Suggestive
endometriosisOpen Targets
0.03Suggestive
Microscopic hematuriaOpen Targets
0.03Suggestive
Hepatic steatosisOpen Targets
0.03Suggestive
pulmonary arterial hypertensionOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
familial hypercholesterolemiaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BRCA1Protein interaction100%XRCC6Protein interaction100%FANCMProtein interaction97%RAD51Protein interaction95%BLMProtein interaction95%ORC5Protein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
23%
Liver
13%
Ovary
12%
Brain
12%
Heart
9%
Gene Interaction Network
Click a node to explore
PIF1BRCA1XRCC6FANCMRAD51BLMORC5
PROTEIN STRUCTURE
Preparing viewer…
PDB6HPH · 1.13 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.42LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.15 [0.94–1.42]
RankingsWhere PIF1 stands among ~20K protein-coding genes
  • #11,578of 20,598
    Most Researched32
  • #14,611of 17,882
    Most Constrained (LOEUF)1.42
Genes detectedPIF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Helicases in R-loop Formation and Resolution.
PMID: 37778731
J Biol Chem · 2023
1.00
2
G-quadruplex DNA: a novel target for drug design.
PMID: 34459951
Cell Mol Life Sci · 2021
0.90
3
Structure and function of Pif1 helicase.
PMID: 28900015
Biochem Soc Trans · 2017
0.80
4
Campylobacter jejuni.
PMID: 10549422
Clin Lab Med · 1999
0.70
5
G-quadruplexes and helicases.
PMID: 26883636
Nucleic Acids Res · 2016
0.60