Basic Information

Symbol
TP53BP1
RNA class
mRNA
Alias
Tumor Protein P53 Binding Protein 1 53BP1 TDRD30 P202 TP53-Binding Protein 1 P53-Binding Protein 1 P53BP1 Tumor Suppressor P53-Binding Protein 1 Tumor Protein P53-Binding Protein, 1 Tumor Protein 53-Binding Protein, 1
Location (GRCh38)
15:43403061-43510728
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001141980.3
Sequence length
10369.0 nt
GC content
0.4566

Transcripts

ID Sequence Length GC content
NM_001141979.3 NCBI
GAGUUCGCGGCCGGUGGCGGCGGUGGCGACAGCGGCGACCUAGGGAUCG… 10363 nt 0.4564
NM_001141980.3 NCBI
GAGUUCGCGGCCGGUGGCGGCGGUGGCGACAGCGGCGACCUAGGGAUCG… 10369 nt 0.4566
NM_001355001.2 NCBI
GAGUUCGCGGCCGGUGGCGGCGGUGGCGACAGCGGCGACCUAGGGAUCG… 10518 nt 0.4576
NM_001411050.1 NCBI
GGCAAUUCCGCAGCCUCGCCCGAACUGAGGGGAGCCAUCUUGUCCCUCU… 10591 nt 0.4580
NM_005657.4 NCBI
GGCAAUUCCGCAGCCUCGCCCGAACUGAGGGGAGCCAUCUUGUCCCUCU… 10520 nt 0.4563
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] CIViC Summary for TP53BP1 Gene

Forensic Context

A study in human keratinocytes and mouse skin demonstrated that X-ray irradiation (5 Gy) significantly downregulated the TP53BP1 gene (0.57-fold) alongside 58 other genes, while 16 genes were upregulated, as identified by cDNA microarray analysis [Koike et al. DOI:10.1269/jrr.46.173].