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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POLDIP3
DNA polymerase delta interacting protein 3
Chromosome 22 · 22q13.2
NCBI Gene: 84271Ensembl: ENSG00000100227.19HGNC: HGNC:23782UniProt: B4E0L0
150PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmic ribonucleoprotein granuleRNA bindingprotein bindingprotein-containing complex bindingcraniosynostosis-anal anomalies-porokeratosis syndromeneurodegenerative diseasespinocerebellar ataxia, autosomal recessive 33Ataxia
✦AI Summary

POLDIP3 (DNA polymerase delta interacting protein 3) is a multifunctional protein involved in DNA replication stress responses and mRNA processing regulation. POLDIP3 associates with RTEL1 helicase to facilitate replication stress responses and R-loop resolution, with loss of either protein leading to marked R-loop accumulation at active replication sites and genomic instability 1. The protein functions as an antiviral factor, as demonstrated by its ability to inhibit coronavirus infection, while viral nsp5 proteases counteract this by cleaving POLDIP3 at glutamine 176, facilitating viral replication 2. POLDIP3 serves as a transcriptional target of TDP-43, with TDP-43 loss-of-function leading to defective splicing of POLDIP3 in ALS models, contributing to disease pathogenesis 3. An alternative splice variant lacking exon 3 (POLDIP3-β) is upregulated in hepatocellular carcinoma and promotes tumor progression through enhanced proliferation, reduced apoptosis, and increased migration 4. POLDIP3 has been identified as a component of the human TREX complex involved in mRNA export, though its direct interaction with viral proteins like ORF57 remains unclear 5. The protein's diverse functions span DNA replication fidelity, antiviral immunity, and cancer progression, making it a significant target for therapeutic intervention.

Sources cited
1
POLDIP3 associates with RTEL1 helicase for replication stress responses and R-loop resolution
PMID: 32561545
2
POLDIP3 functions as antiviral factor against coronaviruses and is cleaved by viral nsp5 protease
PMID: 37801439
3
POLDIP3 is a TDP-43 target gene with defective splicing in ALS models
PMID: 39536963
4
Alternative POLDIP3-β splice variant promotes hepatocellular carcinoma progression
PMID: 28236701
5
POLDIP3 proposed as component of human TREX complex for mRNA export
PMID: 27189710
Disease Associationsⓘ20
craniosynostosis-anal anomalies-porokeratosis syndromeOpen Targets
0.49Moderate
neurodegenerative diseaseOpen Targets
0.48Moderate
spinocerebellar ataxia, autosomal recessive 33Open Targets
0.47Moderate
AtaxiaOpen Targets
0.33Weak
Fuchs endothelial corneal dystrophyOpen Targets
0.07Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.06Suggestive
corneal endothelial dystrophyOpen Targets
0.05Suggestive
keratoconus 1Open Targets
0.05Suggestive
posterior polymorphous corneal dystrophyOpen Targets
0.04Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.04Suggestive
keratoconus 5Open Targets
0.04Suggestive
keratoconus 9Open Targets
0.04Suggestive
Central cloudy dystrophy of FrancoisOpen Targets
0.04Suggestive
central cloudy dystrophy of FrançoisOpen Targets
0.04Suggestive
Schnyder corneal dystrophyOpen Targets
0.04Suggestive
corneal dystrophy, Fuchs endothelial, 6Open Targets
0.04Suggestive
macular corneal dystrophyOpen Targets
0.04Suggestive
congenital stromal corneal dystrophyOpen Targets
0.04Suggestive
cornea plana 2Open Targets
0.04Suggestive
megalocorneaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NCBP2Protein interaction96%ERHProtein interaction96%SHC1Protein interaction96%DDX39BProtein interaction95%THOC5Protein interaction95%THOC1Protein interaction95%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
98%
Lung
55%
Brain
53%
Heart
47%
Liver
41%
Gene Interaction Network
Click a node to explore
POLDIP3NCBP2ERHSHC1DDX39BTHOC5THOC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BY77
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.49Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.32 [0.21–0.49]
RankingsWhere POLDIP3 stands among ~20K protein-coding genes
  • #3,022of 20,598
    Most Researched150 · top quartile
  • #2,935of 17,882
    Most Constrained (LOEUF)0.49 · top quartile
Genes detectedPOLDIP3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human RTEL1 associates with Poldip3 to facilitate responses to replication stress and R-loop resolution.
PMID: 32561545
Genes Dev · 2020
1.00
2
Modeling of TDP-43 proteinopathy by chronic oxidative stress identifies rapamycin as beneficial in ALS patient-derived 2D and 3D iPSC models.
PMID: 39536963
Exp Neurol · 2025
0.90
3
Broad antagonism of coronaviruses nsp5 to evade the host antiviral responses by cleaving POLDIP3.
PMID: 37801439
PLoS Pathog · 2023
0.80
4
Regulation and Modulation of Human DNA Polymerase δ Activity and Function.
PMID: 28737709
Genes (Basel) · 2017
0.70
5
Interactions between KSHV ORF57 and the novel human TREX proteins, CHTOP and CIP29.
PMID: 27189710
J Gen Virol · 2016
0.60