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Symbol TP53BP1 contributors: mct/ - updated : 03-11-2016
HGNC name tumor protein p53 binding protein 1
HGNC id 11999
Location 15q15.3      Physical location : 43.699.412 - 43.802.707
Synonym name
  • tumor suppressor p53-binding protein 1
  • p53-binding protein 1
  • Synonym symbol(s) 53BP1, FLJ41424, MGC138366, p202, p53BP1
    TYPE functioning gene
    STRUCTURE 103.33 kb     28 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 6210 - 1975 in all tissues except lung and liver 1994 8016121
    28 - 6236 - 1972 in all tissues except in lung and liver 1994 8016121
    28 - 6266 - 1977 - 2007 17940005
    Type widely
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Respiratoryrespiratory tractlarynx  highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    at STAGE
    cell cycle     cell cycle, G1
  • two BRCT domains
  • tandem Tudor domains, involved in the end joining and end protection functions , that is paramount for its localization to dysfunctional telomeres, but even without the full engagement of this domain, TP53BP1 has some ability to promote NHEJ of dysfunctional telomeres
  • a glycine- and arginine-rich (GAR) motif methylated by protein arginine N-methyltransferase 1
    interspecies homolog to murine Tp53bp1
    homolog to C.elegans c09d8.1
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies
  • colocalizes with TP53BP1 at sites of DNA double-strand breaks (DSBs), but only in the G1-phase of the cell cycle
  • TP53BP1 nuclear bodies shield chromosomal fragile sites sequestered in these compartments against erosion
  • basic FUNCTION
  • playing a role in p53-related signal transduction pathway
  • enhancing TP53-mediated transcriptional activation
  • having a role in the G2/M and the intra-S phase checkpoints
  • may play a separate role during mitosis; it was shown to be phosphorylated in mitotic cells and to be loaded onto kinetochores in prophase until mid-anaphase
  • having a role during mitosis or in the mitotic spindle assembly checkpoint
  • seems to have distinct and independent roles in response to genotoxic stress
  • with others ATM signalling mediator proteins, RNF8, RNF168 and MDC1 are also required for heterochromatic DSB repair
  • main facilitator of nonhomologous end joining (NHEJ) during the S phase of the cell cycle, beyond highly specialized lymphocyte rearrangements
  • inhibits homologous recombination in BRCA1-deficient cells by blocking resection of DNA breaks
  • TP53BP1 nuclear bodies form around DNA lesions generated by mitotic transmission of chromosomes under replication stress
  • unique function for TP53BP1 in end-joining and tumor suppression
  • in addition to end joining, TP53BP1 and NHEJ1 have overlapping functions in tumor suppression
  • is also present at dysfunctional telomeres, is a target of ATM that accumulates at DNA double-strand breaks and favors nonhomologous end-joining (NHEJ) repair over ATM-dependent resection and homology-directed repair
  • tripartite regulation of homologous recombination by RNF8, BRCA1, and TP53BP1
  • RNF168 and TP53BP1 have a similar influence on homologous recombination (HR) and also indicate that these factors may function in the same pathway to inhibit HR
  • RIF1 and TP53BP1 cooperate to block DSB resection to promote NHEJ in G1, which is antagonized by BRCA1 in S phase to ensure a switch of DSB repair mode to homologous recombination
  • requirement in mediating NHEJ at dysfunctional telomeres and in class switch recombination are not identical
  • protects telomeres lacking TERF2 from aberrant 5prime end resection
  • BRCA1 and TP53BP1 play decisive roles in the choice of DNA double-strand break repair mechanisms
  • role for TP53BP1 in regulating RB1 tumor suppressor activity
  • PAXIP1 status correlates with breast cancer staging, in a manner similar to what has been characterized for TP53BP1
  • unique role for TP53BP1 in replication fork stability
    signaling signal transduction
  • pathway involving gammaH2AX–MDC1–WHSC1 regulates the induction of H4K20 methylation on histones around DSBs, which, in turn, facilitates TP53BP1 recruitment
  • a component
    small molecule
  • central domain of wildtype TP53
  • interact with MDC1 directly through the tandem BRCT domain of MDC1 and AAs 1288–1409 of TP53BP1 (interaction playing a role in the regulation of mitosis)
  • interacting with RAD18 (RAD18 promotes TP53BP1-directed DSB repair by enhancing retention of TP53BP1, possibly through an interaction between RAD18 and TP53BP1 and the modification of TP53BP1)
  • interacting with RNF8 and PAXIP1 (RNF8 controls DNA damage-induced nuclear foci formation of PAXIP1, which in turn regulates TP53BP1 localization to the DNA damage sites)
  • interacting with TRIM28 (phosphorylation is critical for TP53BP1-mediated repair, overall phosphorylated TRIM28 levels are only modestly affected by TP53BP1 loss)
  • WHSC1 is an upstream regulator of TP53BP1 (methylates H4K20 at DSBs, which facilitates the subsequent accumulation of TP53BP1)
  • role for the cysteine protease Cathepsin L (CTSL) in the degradation of TP53BP1
  • TP53BP1 is imported to the nucleus through the NUP153-KPNB1 interplay
  • BRCA1 antagonises TP53BP1-dependent DNA repair in S phase by inhibiting its interaction with chromatin proximal to damage sites
  • RNF8 regulates BRCA1-independent homologous recombination in TP53BP1-depleted cells
  • colocalizes with TP53BP1, a key DNA damage response protein, and with other factors involved in DNA repair
  • RIF1 is an important contributor to the control of DSB repair by TP53BP1
  • RIF1 translocates to damage sites via ATM-dependent TP53BP1 phosphorylation
  • TP53BP1 promotes productive class switch recombination (CSR) and suppresses mutagenic DNA repair through distinct phosphodependent interactions with RIF1 and PAXIP1
  • RNF168 plays a central role in the regulation of TP53BP1 functions
  • TP53BP1 recruitment requires the direct recognition of a DSB-specific histone code and its influence on pathway choice is mediated by mutual antagonism with BRCA1
  • mitotic kinases phosphorylate RNF8 and TP53BP1 to inhibit their recruitment to DSB-flanking chromatin
  • USP28 is recruited to double-strand breaks in a manner that requires the tandem BRCT domains of the DDR protein TP53BP1
  • damage site-bound TP53BP1 whose binding signal is known to be generated by RNF8 and RNF168, and unbound bulk TP53BP1 whose ensuing degradation is regulated by RNF8 and RNF168
  • UBE2L3 regulates both the steady-state and replicative stress-induced ubiquitination and proteasome-dependent degradation of the tumor suppressor TP53-binding protein 1 (TP53BP1)
  • mitotic phosphorylation of TP53BP1 by PLK1 and CDK1 that impairs the ability of TP53BP1 to bind the ubiquitinated H2A and to properly localize to the sites of DNA damage
  • KDM1A, RNF168 and TP53BP1 interacted with each other directly
  • only NUP153 is needed for proper nuclear import of TP53BP1 and SENP1-dependent sumoylation of TP53BP1
  • TPX2/AURKA heterodimer, nominally considered a mitotic kinase complex, is a novel binding partner of TP53BP1
  • cell & other
    Other UV light-induced phosphorylation
    BRCA1 loss activates CTSL1-mediated degradation of TP53BP1
    dephosphorylation by PPP4C enables the recruitment of TP53BP1 to double-strand DNA breaks
    acetylation limits TP53BP1 association with damaged chromatin to promote homologous recombination
    phosphorylation of TP53BP1 at the N terminus is involved in the replicative stress-induced TP53BP1 degradation
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --other  
    Riddle disease associated with defects in TP53BP1-mediated DNA damage signaling
    exclusion of TP53BP1 has a critical role in preventing telomeres from triggering cell cycle arrest
    Susceptibility to lupus erythematosus
    Variant & Polymorphism
    Candidate gene
    Therapy target