{"entity":{"id":"tp53bp1","kind":"target","name":"TP53BP1","aka":["tumor protein p53 binding protein 1","TP53-binding protein 1","53BP1","p202","TDRD30"],"tldr":"TP53BP1 (TP53-binding protein 1) is a protein that switches other genes on and off. The public catalogues list it as a biomarker, a fusion partner and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Lung cancer.","summary":"Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis. Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1. In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs sites.\n\nCIViC holds 1 clinical evidence item and 0 assertions across 1 variant.","asOf":"2026-09-23","links":[{"label":"HGNC HGNC:11999","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11999"},{"label":"UniProt Q12888","url":"https://www.uniprot.org/uniprotkb/Q12888/entry"},{"label":"NCBI Gene 7158","url":"https://www.ncbi.nlm.nih.gov/gene/7158"},{"label":"Ensembl ENSG00000067369","url":"https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000067369"}],"tags":["cancer-genes-wave"],"related":["civic"],"cancers":["lung-cancer"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: CIViC holds 1 clinical evidence items on its variants; UniProt disease notes describe a translocation or gene fusion involving the gene; UniProt keyword \"DNA repair\". Evidence tier \"clinical-evidence\" is the strongest of those signals.","Prevalence not recorded: none of the sources gives a positivity rate."],"provenance":{"editedBy":"scripts/fetch-cancer-genes.ts (CIViC, Open Targets, IntOGen, HGNC, UniProt)","editedOn":"2026-09-23"},"symbol":"TP53BP1","role":["biomarker","fusion-partner","dna-repair"],"evidenceTier":"clinical-evidence","sources":[{"label":"HGNC HGNC:11999","url":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11999","note":"approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)"},{"label":"UniProt Q12888","url":"https://www.uniprot.org/uniprotkb/Q12888/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TP53BP1","url":"https://civicdb.org/features/5852","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Cancer (GraphQL API, CC0)"}],"specificity":"tumour-specific","distribution":"one-type","specificityNote":"Tumour-specific alteration: the catalogues call it a fusion partner (UniProt records a translocation); what a medicine would aim at or exploit is the altered form or its loss, absent from normal cells; no corpus medicine is aimed at it yet. HPA TP53BP1: RNA low tissue specificity; high antibody staining in 37 normal tissues; highest cancer staining glioma (12 of 12 high). Distribution: 1 cancer family in the corpus carries a prevalence row, label threshold or catalogue link for it (Lung cancer (all types)); Open Targets associates it with 0 specific cancer types at or above 0.5. (Rule 6 of scripts/fetch-target-specificity.ts.)","specificitySources":[{"label":"UniProt Q12888","url":"https://www.uniprot.org/uniprotkb/Q12888/entry","note":"protein name, function text, keywords and locations (REST API)"},{"label":"CIViC gene TP53BP1","url":"https://civicdb.org/features/5852","note":"1 evidence items, 0 assertions, 1 variants; diseases: Lung Cancer (GraphQL API, CC0)"},{"label":"Human Protein Atlas TP53BP1 tissue","url":"https://www.proteinatlas.org/ENSG00000067369-TP53BP1/tissue","note":"RNA tissue and blood lineage specificity, normal tissue antibody staining (version 25.1, CC BY-SA 3.0)"},{"label":"Open Targets ENSG00000067369 associations","url":"https://platform.opentargets.org/target/ENSG00000067369/associations","note":"cancer associations at or above 0.5 (CC0)"}],"hgnc":"HGNC:11999","ensembl":"ENSG00000067369","uniprot":"Q12888","entrez":"7158","firstDescribed":1994,"firstDescribedBasis":"sequence","firstDescribedNote":"Earliest sequence paper UniProt cites for the protein: Iwabuchi et al, Proc. Natl. Acad. Sci. U.S.A, 1994, \"Two cellular proteins that bind to wild-type but not mutant p53\".","firstDescribedSource":"https://pubmed.ncbi.nlm.nih.gov/8016121/","biology":"Double-strand break (DSB) repair protein involved in response to DNA damage, telomere dynamics and class-switch recombination (CSR) during antibody genesis. Plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs and specifically counteracting the function of the homologous recombination (HR) repair protein BRCA1. In response to DSBs, phosphorylation by ATM promotes interaction with RIF1 and dissociation from NUDT16L1/TIRR, leading to recruitment to DSBs sites. Recruited to DSBs sites by recognising and binding histone H2A monoubiquitinated at 'Lys-15' (H2AK15Ub) and histone H4 dimethylated at 'Lys-20' (H4K20me2), two histone marks that are present at DSBs sites. Required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs. Participates in the repair and the orientation of the broken DNA ends during CSR. Location: Nucleus; Chromosome; Chromosome, centromere, kinetochore (UniProt). Locus 15q15.3 (HGNC).","whereFound":["Lung cancer: CIViC evidence names this disease"],"targetClass":"transcription","prevalence":[]},"route":"/targets/tp53bp1/","neighbours":{"collection":[{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"}],"cancer":[{"id":"lung-cancer","kind":"cancer","name":"Lung cancer (all types)","route":"/cancers/lung-cancer/"}]}}