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 |
|---|---|---|---|---|---|
OMIM IDMIM:605230 Ensembl IDEnsembl:ENSG00000067369 HGNC IDHGNC:HGNC:11999 PHARMGKB IDPA36680 Map Location15q15.3 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TP53BP1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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