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GeneE
26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TP53BP1
tumor protein p53 binding protein 1
Chromosome 15 · 15q15.3
NCBI Gene: 7158Ensembl: ENSG00000067369.14HGNC: HGNC:11999UniProt: A6NNK5
465PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusnucleoplasmtranscription coactivator activitycytoplasmmicrocephaly and chorioretinopathy 1neurodegenerative diseasemicrocephaly and chorioretinopathy 3genetic disorder
✦AI Summary

TP53BP1 is a critical DNA damage response protein that promotes non-homologous end joining (NHEJ) repair of double-strand breaks (DSBs) while antagonizing homologous recombination (HR) repair 1. The protein functions by recognizing histone modifications at DSB sites, specifically binding to monoubiquitinated histone H2A at lysine-15 and dimethylated histone H4 at lysine-20 1. Upon DNA damage, ATM-mediated phosphorylation promotes TP53BP1 interaction with RIF1 and recruitment to DSB sites. TP53BP1 plays essential roles in immunoglobulin class-switch recombination during antibody genesis and telomere maintenance 2. The protein also functions in cell cycle control, forming complexes with USP28 and p53 during extended mitosis that are transmitted to daughter cells, triggering p53-mediated growth arrest in progeny of cells experiencing prolonged mitosis 3. Clinically, TP53BP1 serves as a tumor suppressor, and loss-of-function mutations contribute to PARP inhibitor resistance in BRCA1/2-deficient breast cancers by restoring HR capacity 2. The protein shows age-related expression changes and may serve as a biomarker for vascular aging 4. Functional variants in TP53BP1's Tudor domain affect USP28 binding, highlighting its regulatory complexity in DNA damage responses 5.

Sources cited
1
TP53BP1 promotes NHEJ repair while antagonizing HR, and recognizes specific histone modifications at DSB sites
PMID: 38900911
2
TP53BP1 forms complexes with USP28 and p53 during extended mitosis that control daughter cell proliferation
PMID: 38547292
3
TP53BP1 loss-of-function mutations contribute to PARP inhibitor resistance in BRCA-deficient breast cancers
PMID: 38244928
4
TP53BP1 expression changes with age and serves as a potential biomarker for vascular aging
PMID: 38173016
5
Functional variants in TP53BP1's Tudor domain affect USP28 binding and cellular fitness upon DNA damage
PMID: 33606978
Disease Associationsⓘ20
microcephaly and chorioretinopathy 1Open Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
microcephaly and chorioretinopathy 3Open Targets
0.35Weak
genetic disorderOpen Targets
0.18Weak
benign neoplasm of eyeOpen Targets
0.18Weak
lung cancerOpen Targets
0.14Weak
neoplasmOpen Targets
0.11Weak
breast cancerOpen Targets
0.10Weak
cancerOpen Targets
0.09Suggestive
maternal uniparental disomy of chromosome 20Open Targets
0.07Suggestive
immune deficiency, familial variableOpen Targets
0.07Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
Huntington diseaseOpen Targets
0.07Suggestive
gastrointestinal stromal tumorOpen Targets
0.07Suggestive
severe combined immunodeficiency due to CARD11 deficiencyOpen Targets
0.07Suggestive
immunodeficiency 86Open Targets
0.07Suggestive
BENTA diseaseOpen Targets
0.06Suggestive
nodular goiterOpen Targets
0.06Suggestive
hyper-IgM syndrome type 3Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PARP1Protein interaction100%BRCA1Protein interaction100%RNF4Protein interaction100%H2AC20Protein interaction100%H3-4Protein interaction100%H3-3BProtein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
94%
Ovary
83%
Heart
70%
Lung
37%
Liver
20%
Gene Interaction Network
Click a node to explore
TP53BP1PARP1BRCA1RNF4H2AC20H3-4H3-3B
PROTEIN STRUCTURE
Preparing viewer…
PDB8SVI · 1.15 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.36Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.29 [0.23–0.36]
RankingsWhere TP53BP1 stands among ~20K protein-coding genes
  • #579of 20,598
    Most Researched465 · top 5%
  • #1,644of 17,882
    Most Constrained (LOEUF)0.36 · top 10%
Genes detectedTP53BP1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Control of cell proliferation by memories of mitosis.
PMID: 38547292
Science · 2024
1.00
2
Structure and repair of replication-coupled DNA breaks.
PMID: 38900911
Science · 2024
0.90
3
Functional interrogation of DNA damage response variants with base editing screens.
PMID: 33606978
Cell · 2021
0.80
4
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
0.70
5
Disparate requirements for RAD54L in replication fork reversal.
PMID: 39315725
Nucleic Acids Res · 2024
0.68