TP53BP1 tumor protein p53 binding protein 1
Gene ID: 7158, updated on 12-Nov-2024Gene type: protein coding
Also known as: p202; 53BP1; TDRD30; p53BP1
- See all available tests in GTR for this gene
- Go to complete Gene record for TP53BP1
- Go to Variation Viewer for TP53BP1 variants
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]
Genomic context
- Location:
- 15q15.3
- Sequence:
- Chromosome: 15; NC_000015.10 (43403061..43510640, complement)
- Total number of exons:
- 32
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TP53BP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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