Protein-coding gene in the species Homo sapiens
DNA topoisomerase 2-binding protein 1 (TOPBP1) is a scaffold protein that in humans is encoded by the TOPBP1 gene .[ 5] [ 6] [ 7]
TOPBP1 was first identified as a protein binding partner of DNA topoisomerase-IIβ by a yeast 2-hybrid screen, giving it its name.[ 8] DNA damage repair , DNA replication , transcriptional regulation , and cell cycle checkpoint activation . TOPBP1 primarily regulates the DNA damage repair response through its ability to activate the damage response kinase, ataxia-telangiectasia mutated and RAD3-related (ATR) . It also plays a critical role in DNA replication initiation and regulation of the cell cycle. Changes in TOPBP1 gene expression are associated with pulmonary hypertension , breast cancer , glioblastoma , non-small cell lung cancer , and sarcomas .[ 9] [ 10] [ 11]
^ a b c GRCh38: Ensembl release 89: ENSG00000163781 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032555 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Yamane K, Kawabata M, Tsuruo T (December 1997). "A DNA-topoisomerase-II-binding protein with eight repeating regions similar to DNA-repair enzymes and to a cell-cycle regulator" . European Journal of Biochemistry . 250 (3): 794–799. doi :10.1111/j.1432-1033.1997.00794.x PMID 9461304 . ^ Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, et al. (October 1996). "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain" . DNA Research . 3 (5): 321–9, 341–54. doi :10.1093/dnares/3.5.321 PMID 9039502 . ^ "Entrez Gene: TOPBP1 topoisomerase (DNA) II binding protein 1" .^ Broderick R, Niedzwiedz W (2015-08-12). "Sister chromatid decatenation: bridging the gaps in our knowledge" . Cell Cycle . 14 (19): 3040–3044. doi :10.1080/15384101.2015.1078039 . PMC 4825568 PMID 26266709 . ^ Ranchoux B, Meloche J, Paulin R, Boucherat O, Provencher S, Bonnet S (June 2016). "DNA Damage and Pulmonary Hypertension" . International Journal of Molecular Sciences . 17 (6): 990. doi :10.3390/ijms17060990 PMC 4926518 PMID 27338373 . ^ Wardlaw CP, Carr AM, Oliver AW (October 2014). "TopBP1: A BRCT-scaffold protein functioning in multiple cellular pathways". DNA Repair . 22 : 165–174. doi :10.1016/j.dnarep.2014.06.004 . PMID 25087188 . ^ Toh M, Ngeow J (September 2021). "Homologous Recombination Deficiency: Cancer Predispositions and Treatment Implications" . The Oncologist . 26 (9): e1526–e1537. doi :10.1002/onco.13829 . PMC 8417864 PMID 34021944 . 
