TOPBP1

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Topoisomerase (DNA) II binding protein 1
Protein TOPBP1 PDB 1wf6.png
Rendering of TOPBP1 from PDB 1WF6
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols TOPBP1 ; TOP2BP1
External IDs OMIM607760 MGI1920018 HomoloGene38262 ChEMBL: 3175 GeneCards: TOPBP1 Gene
RNA expression pattern
PBB GE TOPBP1 202633 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 11073 235559
Ensembl ENSG00000163781 ENSMUSG00000032555
UniProt Q92547 Q6ZQF0
RefSeq (mRNA) NM_007027 NM_176979
RefSeq (protein) NP_008958 NP_795953
Location (UCSC) Chr 3:
133.32 – 133.38 Mb
Chr 9:
103.31 – 103.35 Mb
PubMed search [1] [2]

DNA topoisomerase 2-binding protein 1 is an enzyme that in humans is encoded by the TOPBP1 gene.[1][2][3]

This gene encodes a binding protein which interacts with the C-terminal region of topoisomerase II beta. This interaction suggests a supportive role for this protein in the catalytic reactions of topoisomerase II beta through transient breakages of DNA strands.[3]

Interactions[edit]

TOPBP1 has been shown to interact with RAD9A,[4] E2F1,[5][6] Promyelocytic leukemia protein,[7] ZBTB17[8] and UBR5.[9]

Clinical relevance[edit]

This gene may be involved in the development of ovarian and breast cancer.[10]

Mutations in TOPBP1 cause Idiopathic pulmonary arterial hypertension .[11]

References[edit]

  1. ^ Yamane K, Kawabata M, Tsuruo T (February 1998). "A DNA-topoisomerase-II-binding protein with eight repeating regions similar to DNA-repair enzymes and to a cell-cycle regulator". Eur J Biochem 250 (3): 794–9. doi:10.1111/j.1432-1033.1997.00794.x. PMID 9461304. 
  2. ^ Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N (May 1997). "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 Res 3 (5): 321–9, 341–54. doi:10.1093/dnares/3.5.321. PMID 9039502. 
  3. ^ a b "Entrez Gene: TOPBP1 topoisomerase (DNA) II binding protein 1". 
  4. ^ Mäkiniemi, M; Hillukkala T, Tuusa J, Reini K, Vaara M, Huang D, Pospiech H, Majuri I, Westerling T, Mäkelä T P, Syväoja J E (August 2001). "BRCT domain-containing protein TopBP1 functions in DNA replication and damage response". J. Biol. Chem. (United States) 276 (32): 30399–406. doi:10.1074/jbc.M102245200. ISSN 0021-9258. PMID 11395493. 
  5. ^ Liu, Kang; Lin Fang-Tsyr, Ruppert J Michael, Lin Weei-Chin (May 2003). "Regulation of E2F1 by BRCT domain-containing protein TopBP1". Mol. Cell. Biol. (United States) 23 (9): 3287–304. doi:10.1128/MCB.23.9.3287-3304.2003. ISSN 0270-7306. PMC 153207. PMID 12697828. 
  6. ^ Yu, Xiaochun; Chini Claudia Christiano Silva, He Miao, Mer Georges, Chen Junjie (October 2003). "The BRCT domain is a phospho-protein binding domain". Science (United States) 302 (5645): 639–42. doi:10.1126/science.1088753. PMID 14576433. 
  7. ^ Xu, Zhi-Xiang; Timanova-Atanasova Anna, Zhao Rui-Xun, Chang Kun-Sang (June 2003). "PML colocalizes with and stabilizes the DNA damage response protein TopBP1". Mol. Cell. Biol. (United States) 23 (12): 4247–56. doi:10.1128/MCB.23.12.4247-4256.2003. ISSN 0270-7306. PMC 156140. PMID 12773567. 
  8. ^ Herold, Steffi; Wanzel Michael, Beuger Vincent, Frohme Carsten, Beul Dorothee, Hillukkala Tomi, Syvaoja Juhani, Saluz Hans-Peter, Haenel Frank, Eilers Martin (September 2002). "Negative regulation of the mammalian UV response by Myc through association with Miz-1". Mol. Cell (United States) 10 (3): 509–21. doi:10.1016/S1097-2765(02)00633-0. ISSN 1097-2765. PMID 12408820. 
  9. ^ Honda, Yoshiomi; Tojo Masahide, Matsuzaki Kazuhito, Anan Tadashi, Matsumoto Mitsuhiro, Ando Masayuki, Saya Hideyuki, Nakao Mitsuyoshi (February 2002). "Cooperation of HECT-domain ubiquitin ligase hHYD and DNA topoisomerase II-binding protein for DNA damage response". J. Biol. Chem. (United States) 277 (5): 3599–605. doi:10.1074/jbc.M104347200. ISSN 0021-9258. PMID 11714696. 
  10. ^ Forma E, Wójcik-Krowiranda K, Bieńkiewicz A, Bryś M (2013) Molecular basis of gynecological oncology - TopBP1 protein as the guardian of genome integrity. Ginekol Pol 84(5):373-376
  11. ^ De Jesus Perez, V. A.; Yuan, K; Lyuksyutova, M. A.; Dewey, F; Orcholski, M. E.; Shuffle, E. M.; Mathur, M; Yancy Jr, L; Rojas, V; Li, C. G.; Cao, A; Alastalo, T. P.; Khazeni, N; Cimprich, K. A.; Butte, A. J.; Ashley, E; Zamanian, R. T. (2014). "Whole Exome Sequencing Reveals Topbp1 As a Novel Gene in Idiopathic Pulmonary Arterial Hypertension". American Journal of Respiratory and Critical Care Medicine: 140404073105009. doi:10.1164/rccm.201310-1749OC. PMID 24702692.  edit

Further reading[edit]