GenAge entry for TP53BP1 (Homo sapiens)

Gene name (HAGRID: 274)

HGNC symbol
TP53BP1 
Aliases
53BP1; p202; TDRD30 
Common name
tumor protein p53 binding protein 1 

Potential relevance to the human ageing process

Main reason for selection
Entry selected based on evidence linking the gene product to a pathway or mechanism linked to ageing
Description

TP53BP1 is a DNA damage response protein that acts to preserve genomic integrity through the non-homologous end joining (NHEJ) pathway. BRCA1 mouse mutants result in embryonic lethality and hypomorphic BRCA1 mice and heterozygous for TP53 have slower growth rates and display signs of premature ageing [37]. These phenotypes are almost completely reverted in double knockout mice lacking TP53BP1. The mutant mice showed an almost normal lifespan and displayed a relative absence of various progeroid phenotypes, even though high levels of genomic instability were still observed [2186]. In humans, TP53BP1 has also been implicated in various forms of cancer [2191]. As TP53BP1 is involved in DNA damage responses, along with TP53, ATM and other ageing-associated players, and it might play a role during human ageing.

Cytogenetic information

Cytogenetic band
15q15-q21
Location
43,407,214 bp to 43,493,156 bp
Orientation
Minus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0000077; DNA damage checkpoint
GO:0006303; double-strand break repair via nonhomologous end joining
GO:0006351; transcription, DNA-templated
GO:0006974; cellular response to DNA damage stimulus
GO:0016925; protein sumoylation
GO:0045893; positive regulation of transcription, DNA-templated
GO:0045944; positive regulation of transcription from RNA polymerase II promoter
GO:0051091; positive regulation of sequence-specific DNA binding transcription factor activity
GO:0071481; cellular response to X-ray
Cellular component: GO:0000777; condensed chromosome kinetochore
GO:0000781; chromosome, telomeric region
GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005737; cytoplasm
Function: GO:0001102; RNA polymerase II activating transcription factor binding
GO:0001104; RNA polymerase II transcription cofactor activity
GO:0002039; p53 binding
GO:0003677; DNA binding
GO:0005515; protein binding
GO:0035064; methylated histone binding
Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
TP53, ATM, E2F1, BRCA1, RPA1, BLM, VCP, NFKB1, UBE2I, EP300, XRCC5, XRCC6, PCMT1, YWHAZ, MAPK3, CDK1, TFDP1, H2AFX, CHEK2, SIRT7, TP73
STRING interaction network
Protein-Protein network diagram for TP53BP1

Retrieve sequences for TP53BP1

ORF
ORF
CDS
CDS

Homologs in model organisms

Caenorhabditis elegans
hsr-9
Danio rerio
zgc:158452
Mus musculus
Tp53bp1
Rattus norvegicus
Tp53bp1

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Trp53bp1

Selected references

External links

EPD
ORF Accession
NM_001141979
CDS Accession
NP_001135451
OMIM
605230
HPRD
05569
Ensembl
TP53BP1
UniProt/Swiss-Prot
F8VY86_HUMAN
GeneCards
TP53BP1
Entrez Gene
7158
UniGene
440968
GenAtlas
TP53BP1
Internet
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