TP53BP1 (tumor protein p53 binding protein 1)

2003-02-01  

Identity

HGNC
LOCATION
15q15.3
LOCUSID
ALIAS
53BP1,TDRD30,p202,p53BP1
FUSION GENES

Other Information

Locus ID:

NCBI: 7158
MIM: 605230
HGNC: 11999
Ensembl: ENSG00000067369

Variants:

dbSNP: 7158
ClinVar: 7158
TCGA: ENSG00000067369
COSMIC: TP53BP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000067369ENST00000263801Q12888
ENSG00000067369ENST00000382039A6NNK5
ENSG00000067369ENST00000382044Q12888
ENSG00000067369ENST00000411772H7C3N7
ENSG00000067369ENST00000413546C9JXV0
ENSG00000067369ENST00000417342H7C151
ENSG00000067369ENST00000434561H7BZY0
ENSG00000067369ENST00000434595H7C495
ENSG00000067369ENST00000450115Q12888
ENSG00000067369ENST00000467474M0R142

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
SUMO E3 ligases SUMOylate target proteinsREACTOMER-HSA-3108232
Cell CycleREACTOMER-HSA-1640170
Cell Cycle CheckpointsREACTOMER-HSA-69620
G2/M CheckpointsREACTOMER-HSA-69481
G2/M DNA damage checkpointREACTOMER-HSA-69473
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
DNA Double Strand Break ResponseREACTOMER-HSA-5693606
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksREACTOMER-HSA-5693565
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
Processing of DNA double-strand break endsREACTOMER-HSA-5693607
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571
SUMOylation of transcription factorsREACTOMER-HSA-3232118

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
171906002006Structural basis for the methylation state-specific recognition of histone H4-K20 by 53BP1 and Crb2 in DNA repair.417
20453858201053BP1 loss rescues BRCA1 deficiency and is associated with triple-negative and BRCA-mutated breast cancers.385
233333062013A cell cycle-dependent regulatory circuit composed of 53BP1-RIF1 and BRCA1-CtIP controls DNA repair pathway choice.343
243266232014Double-strand break repair: 53BP1 comes into focus.340
155259392004Methylated lysine 79 of histone H3 targets 53BP1 to DNA double-strand breaks.308
21317883201153BP1 nuclear bodies form around DNA lesions generated by mitotic transmission of chromosomes under replication stress.268
18931659200853BP1 promotes non-homologous end joining of telomeres by increasing chromatin mobility.255
233775432013Acetylation limits 53BP1 association with damaged chromatin to promote homologous recombination.204
12364621200253BP1, a mediator of the DNA damage checkpoint.199
212933792011MMSET regulates histone H4K20 methylation and 53BP1 accumulation at DNA damage sites.177

Citation

Dessen P

TP53BP1 (tumor protein p53 binding protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/189/tp53bp1