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27 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RIF1
replication timing regulatory factor 1
Chromosome 2 · 2q23.3
NCBI Gene: 55183Ensembl: ENSG00000080345.19HGNC: HGNC:23207UniProt: Q5UIP0
176PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHighly Constrained
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmsite of double-strand breakspindle midzonetelomere maintenance in response to DNA damageneurodegenerative diseaseprostate carcinomaFuchs' endothelial dystrophyliver disease
✦AI Summary

RIF1 is a key regulator of DNA double-strand break (DSB) repair that promotes non-homologous end joining (NHEJ) while suppressing homologous recombination (HR). RIF1 functions by interacting with ATM-phosphorylated TP53BP1 at DSB sites, where it displaces NUDT16L1/TIRR to unmask TP53BP1's tandem Tudor domain and enable DNA recruitment 1. Together with TP53BP1, RIF1 forms the shieldin complex (including SHLD1-3 and REV7) that protects DNA ends from nucleolytic resection 2. This pathway recruits CST-Polα complexes to perform fill-in synthesis, effectively blocking HR and promoting NHEJ repair 3. RIF1 also controls replication timing by delaying helicase activation in specific genomic regions, causing late replication during S phase 4. Through its interaction with protein phosphatase 1 (PP1), RIF1 both stimulates origin licensing by protecting ORC1 from degradation and suppresses origin activation by limiting MCM helicase phosphorylation 5. Super-resolution microscopy reveals that RIF1 and TP53BP1 stabilize three-dimensional chr2 topology at DSB sites, organizing neighboring topologically associating domains into ordered circular arrangements that prevent chr2 decompaction and maintain epigenetic integrity 6. Loss of RIF1 function contributes to PARP inhibitor resistance in BRCA1-deficient cancers 7.

Sources cited
1
RIF1 interacts with ATM-phosphorylated TP53BP1 and displaces NUDT16L1/TIRR to enable DNA recruitment
PMID: 28241136
2
RIF1 forms the shieldin complex that protects DNA ends from nucleolytic resection
PMID: 30022168
3
RIF1-shieldin pathway recruits CST-Polα complexes for fill-in synthesis
PMID: 30022158
4
RIF1 controls replication timing by delaying helicase activation
PMID: 35328102
5
RIF1 interacts with PP1 to regulate origin licensing and activation
PMID: 28077461
6
RIF1 and TP53BP1 stabilize chromatin topology at DSB sites
PMID: 31645724
7
Loss of RIF1 contributes to PARP inhibitor resistance in BRCA1-deficient cancers
PMID: 38244928
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
prostate carcinomaOpen Targets
0.31Weak
Fuchs' endothelial dystrophyOpen Targets
0.29Weak
liver diseaseOpen Targets
0.29Weak
preeclampsiaOpen Targets
0.29Weak
Alzheimer diseaseOpen Targets
0.28Weak
diabetes mellitusOpen Targets
0.28Weak
Abnormality of the skeletal systemOpen Targets
0.14Weak
neoplasmOpen Targets
0.10Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.07Suggestive
isolated agammaglobulinemiaOpen Targets
0.07Suggestive
cervical cancerOpen Targets
0.06Suggestive
cardiac transplantOpen Targets
0.06Suggestive
Autosomal recessive hyper-IgE syndromeOpen Targets
0.05Suggestive
X-linked agammaglobulinemiaOpen Targets
0.05Suggestive
hyper-IgM syndrome type 2Open Targets
0.05Suggestive
Immunodeficiency due to a late component of complements deficiencyOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
H4C6Protein interaction100%PAXIP1Protein interaction94%PPP1CAProtein interaction83%ATMProtein interaction82%PPP1CCProtein interaction82%BRCA1Protein interaction81%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
46%
Ovary
40%
Lung
29%
Liver
21%
Heart
20%
Gene Interaction Network
Click a node to explore
RIF1H4C6PAXIP1PPP1CAATMPPP1CCBRCA1
PROTEIN STRUCTURE
Preparing viewer…
PDB8RS8 · 1.31 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.25Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.14–0.25]
RankingsWhere RIF1 stands among ~20K protein-coding genes
  • #2,489of 20,598
    Most Researched176 · top quartile
  • #790of 17,882
    Most Constrained (LOEUF)0.25 · top 5%
Genes detectedRIF1
Sources retrieved27 papers
Response time—
📄 Sources
27▼
1
The shieldin complex mediates 53BP1-dependent DNA repair.
PMID: 30022168
Nature · 2018
1.00
2
53BP1-RIF1-shieldin counteracts DSB resection through CST- and Polα-dependent fill-in.
PMID: 30022158
Nature · 2018
0.90
3
Longitudinal profiling identifies co-occurring BRCA1/2 reversions, TP53BP1, RIF1 and PAXIP1 mutations in PARP inhibitor-resistant advanced breast cancer.
PMID: 38244928
Ann Oncol · 2024
0.80
4
Comparison of Telomere Structure in Eukaryotes.
PMID: 40606259
Arch Razi Inst · 2024
0.76
5
Rif1-Dependent Control of Replication Timing.
PMID: 35328102
Genes (Basel) · 2022
0.70