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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PRIMPOL
primase and DNA directed polymerase
Chromosome 4 · 4q35.1
NCBI Gene: 201973Ensembl: ENSG00000164306.11HGNC: HGNC:26575UniProt: A0A5S6SZ32
62PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chromatin bindingDNA-directed DNA polymerase activityDNA-directed RNA polymerase activityprotein bindingmyopianeurodegenerative diseaseresponse to vaccineresponse to stimulus
✦AI Summary

PRIMPOL is a dual-function enzyme possessing both primase and DNA polymerase activities essential for tolerating replication-stalling lesions in nuclear and mitochondrial DNA 1. Its primary function involves reinitiating DNA synthesis downstream of DNA lesions—including UV lesions, abasic sites, 8-oxoguanine, and G-quadruplexes—through de novo primer synthesis, allowing replication fork progression to bypass damage 234. PRIMPOL operates as an error-prone polymerase capable of directly synthesizing across certain lesions or repriming ahead of unreadable damage, thereby skipping lesions while leaving ssDNA gaps for post-replicative repair 56. Mechanistically, PRIMPOL uses its N-terminal catalytic domain and C-terminal zinc-finger motif cooperatively to initiate DNA synthesis in cis-orientation 7. The enzyme's repriming activity is regulated by ATR-dependent phosphorylation at Ser255 and associates with MCM10 to modulate fork progression during DNA damage responses 89. PRIMPOL-generated ssDNA gaps are subsequently filled through temporally distinct pathways involving REV1-POLζ translesion synthesis in G2 phase or RAD51-mediated recombination in S phase 6. Clinically, PRIMPOL dysfunction is associated with autosomal dominant myopia 22 10, while PRIMPOL pathway inhibition represents a novel therapeutic strategy to enhance chemosensitivity in cancer cells 51.

Sources cited
1
PRIMPOL synthesizes primers downstream of UV lesions, abasic sites, and reinitiates synthesis after UV damage
PMID: 24240614
2
PRIMPOL tolerates 8-oxoG and abasic sites with high capacity and can realign primers ahead of lesions
PMID: 25746449
3
PRIMPOL repriming leads to ssDNA gap accumulation and suppresses fork reversal in BRCA-deficient cells under cisplatin treatment
PMID: 31676232
4
PRIMPOL is a key player in DNA damage tolerance with both primase and polymerase activities
PMID: 33179522
5
Post-replicative gap filling occurs through REV1-POLζ in G2 or RAD51-mediated pathways in S phase
PMID: 34624216
6
BRCA2 associates with MCM10 to suppress PRIMPOL-mediated repriming and ssDNA gap formation
PMID: 34645815
7
PRIMPOL's N-terminal and C-terminal domains cooperate for DNA binding and de novo synthesis initiation
PMID: 37326028
8
PRIMPOL is phosphorylated at Ser255 in an ATR/Chk1-dependent manner under replication stress
PMID: 37591859
9
PRIMPOL dysfunction is associated with autosomal dominant myopia 22
PMID: 37758313
10
HLTF restrains PrimPol-dependent repriming at G-quadruplexes to maintain genome stability
PMID: 39142279
Disease Associationsⓘ21
myopiaOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.47Moderate
response to vaccineOpen Targets
0.24Weak
response to stimulusOpen Targets
0.22Weak
response to waterOpen Targets
0.18Weak
mucocutaneous lymph node syndromeOpen Targets
0.09Suggestive
enteritisOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
essential tremorOpen Targets
0.06Suggestive
azoospermiaOpen Targets
0.06Suggestive
Young adult-onset ParkinsonismOpen Targets
0.06Suggestive
dystonia 27Open Targets
0.05Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
Early-onset X-linked optic atrophyOpen Targets
0.05Suggestive
optic atrophy 2Open Targets
0.05Suggestive
Cranio-cervical dystonia with laryngeal and upper-limb involvementOpen Targets
0.05Suggestive
Primary dystonia, DYT13 typeOpen Targets
0.05Suggestive
spinocerebellar ataxia type 20Open Targets
0.05Suggestive
Hereditary late-onset Parkinson diseaseOpen Targets
0.05Suggestive
Myopia 22, autosomal dominantUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
HLTFProtein interaction100%POLLProtein interaction100%RPA1Protein interaction100%RPA2Protein interaction100%RPA3Protein interaction100%TIMELESSProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
76%
Heart
66%
Lung
41%
Liver
38%
Brain
38%
Gene Interaction Network
Click a node to explore
PRIMPOLHLTFPOLLRPA1RPA2RPA3TIMELESS
PROTEIN STRUCTURE
Preparing viewer…
PDB5N8A · 1.28 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.15LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.57–1.15]
RankingsWhere PRIMPOL stands among ~20K protein-coding genes
  • #7,497of 20,598
    Most Researched62
  • #11,950of 17,882
    Most Constrained (LOEUF)1.15
Genes detectedPRIMPOL
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Temporally distinct post-replicative repair mechanisms fill PRIMPOL-dependent ssDNA gaps in human cells.
PMID: 34624216
Mol Cell · 2021
1.00
2
PRIMPOL ready, set, reprime!
PMID: 33179522
Crit Rev Biochem Mol Biol · 2021
0.90
3
PRIMPOL-Mediated Adaptive Response Suppresses Replication Fork Reversal in BRCA-Deficient Cells.
PMID: 31676232
Mol Cell · 2020
0.80
4
Regulation of Human DNA Primase-Polymerase PrimPol.
PMID: 37758313
Biochemistry (Mosc) · 2023
0.70
5
HLTF resolves G4s and promotes G4-induced replication fork slowing to maintain genome stability.
PMID: 39142279
Mol Cell · 2024
0.60