TP53BP1
Summary: This gene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This protein plays multiple roles in the DNA damage response, including promoting checkpoint signaling following DNA damage, acting as a scaffold for recruitment of DNA damage response proteins to damaged chromatin, and promoting NHEJ pathways by limiting end resection following a double-strand break. These roles are also important during V(D)J recombination, class switch recombination and at unprotected telomeres. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| tumor protein p53 binding protein 1 | MIM:605230 | Ensembl:ENSG00000067369 | HGNC:HGNC:11999 | PA36680 | 15q15.3 |
GO terms in TP53BP1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0000777 | condensed chromosome kinetochore |
| CC | IDA | GO:0000781 | chromosome, telomeric region |
| CC | IEA | GO:0000784 | nuclear chromosome, telomeric region |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005657 | replication fork |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0016604 | nuclear body |
| CC | IDA | GO:0035861 | site of double-strand break |
| CC | IEA | GO:1990391 | DNA repair complex |
| BP | IBA | GO:0000077 | DNA damage checkpoint |
| BP | IDA | GO:0006303 | double-strand break repair via nonhomologous end joining |
| BP | TAS | GO:0006303 | double-strand break repair via nonhomologous end joining |
| BP | IEA | GO:0006351 | transcription, DNA-templated |
| BP | IDA | GO:0006974 | cellular response to DNA damage stimulus |
| BP | IDA | GO:0045830 | positive regulation of isotype switching |
| BP | IMP | GO:0045830 | positive regulation of isotype switching |
| BP | NAS | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IBA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IC | GO:0051091 | positive regulation of DNA-binding transcription factor activity |
| BP | IDA | GO:0051260 | protein homooligomerization |
| BP | IEA | GO:0071481 | cellular response to X-ray |
| BP | IDA | GO:2000042 | negative regulation of double-strand break repair via homologous recombination |
| MF | IPI | GO:0001102 | RNA polymerase II activating transcription factor binding |
| MF | IPI | GO:0002039 | p53 binding |
| MF | IEA | GO:0003684 | damaged DNA binding |
| MF | IMP | GO:0003712 | transcription coregulator activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0035064 | methylated histone binding |
| MF | IEA | GO:0042162 | telomeric DNA binding |
| MF | IBA | GO:0042393 | histone binding |
| MF | IDA | GO:0061649 | ubiquitin modification-dependent histone binding |
Gene expression in normal tissue: TP53BP1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TP53BP1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1640170 | Cell Cycle |
| reactome | R-HSA-2990846 | SUMOylation |
| reactome | R-HSA-3108232 | SUMO E3 ligases SUMOylate target proteins |
| reactome | R-HSA-3232118 | SUMOylation of transcription factors |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-5693532 | DNA Double-Strand Break Repair |
| reactome | R-HSA-5693538 | Homology Directed Repair |
| reactome | R-HSA-5693565 | Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks |
| reactome | R-HSA-5693567 | HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) |
| reactome | R-HSA-5693571 | Nonhomologous End-Joining (NHEJ) |
| reactome | R-HSA-5693606 | DNA Double Strand Break Response |
| reactome | R-HSA-5693607 | Processing of DNA double-strand break ends |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-69473 | G2/M DNA damage checkpoint |
| reactome | R-HSA-69481 | G2/M Checkpoints |
| reactome | R-HSA-69620 | Cell Cycle Checkpoints |
| reactome | R-HSA-73894 | DNA Repair |
| kegg | hsa04621 | NOD-like receptor signaling pathway - Homo sapiens (human) |
| pid | atm_pathway | ATM pathway |
| wikipathways | WP2516 | ATM Signaling Pathway |
| wikipathways | WP3878 | ATM Signaling Network in Development and Disease |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD112 | Methotrexate | 1 |
| iGMDRD313 | Axitinib | 1 |
| iGMDRD494 | Neopeltolide | 2 |
| iGMDRD489 | GSK-461364 | 1 |
| iGMDRD63 | Camptothecin | 1 |
| iGMDRD144 | NSC95397 | 3 |
| iGMDRD446 | LY 2183240 | 2 |
| iGMDRD253 | Vincaleukoblastine | 1 |
| iGMDRD401 | Afatinib | 2 |
| iGMDRD280 | CYTOCHALASIN B | 6 |
| iGMDRD255 | SB225002 | 1 |
| iGMDRD109 | Gefitinib | 1 |
| iGMDRD138 | PX 12 | 2 |
| iGMDRD562 | Navitoclax | 5 |
| iGMDRD398 | Sepantronium | 5 |
| iGMDRD145 | Omacetaxine mepesuccinate | 1 |
| iGMDRD268 | Cerulenin | 1 |
| iGMDRD640 | CAY10618 | 1 |
| iGMDRD382 | CEP-701 | 1 |
| iGMDRD299 | ICL 670 | 1 |
| iGMDRD944 | MI.1 | 1 |
| iGMDRD57 | Chloropentafluorobenzene | 4 |
| iGMDRD536 | PLX-4720 | 1 |
| iGMDRD750 | TRIAZOLOTHIADIAZINE | 1 |
| iGMDRD435 | BI-2536 | 1 |
| iGMDRD211 | (1S,3R)-RSL3 | 2 |
| iGMDRD374 | Zibotentan (ZD4054) | 1 |
| iGMDRD157 | Ouabain | 1 |
| iGMDRD208 | Necrosulfonamide | 1 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD882 | CIL41 | 2 |
| iGMDRD646 | PHA-793887 | 1 |
| iGMDRD42 | Vorinostat | 1 |
| iGMDRD505 | Pevonedistat | 1 |
| iGMDRD300 | Tozasertib | 1 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD409 | Saracatinib | 1 |
| iGMDRD571 | Cabozantinib | 1 |
| iGMDRD151 | CHM-1 | 2 |
| iGMDRD781 | Sirolimus | 2 |
| iGMDRD670 | ML 210 | 2 |
| iGMDRD427 | ABT737 | 7 |
| iGMDRD639 | YK 4-279 | 1 |
| iGMDRD152 | 179324-69-7 | 1 |
| iGMDRD394 | BX-795 | 2 |
| iGMDRD52 | Rotenone | 2 |
| iGMDRD207 | Capsaicin | 1 |
| iGMDRD851 | BRD-K34222889 | 1 |
| iGMDRD133 | Lapatinib | 1 |
| iGMDRD340 | SU 11274 | 1 |
| iGMDRD64 | Parbendazole | 1 |
| iGMDRD584 | VER 155008 | 3 |
| iGMDRD475 | BX 912 | 1 |
| iGMDRD79 | Gemcitabine | 1 |
| iGMDRD321 | Daporinad | 1 |
| iGMDRD560 | MK-2206 | 1 |
| iGMDRD423 | AT 7867 | 1 |
| iGMDRD150 | RITA | 7 |
| iGMDRD121 | GMX1778 | 1 |
| iGMDRD158 | NSC141540 | 2 |
| iGMDRD197 | DBeQ | 1 |
| iGMDRD213 | SMR000068650 | 3 |
| iGMDRD105 | Triptolide | 1 |
| iGMDRD329 | Merck60 | 3 |
| iGMDRD234 | Lomeguatrib | 1 |
| iGMDRD119 | Temsirolimus | 1 |
| iGMDRD286 | Nsc 632839 | 5 |
| iGMDRD552 | AZD-1775 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TP53BP1
CLASSFICATION
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