TOPBP1

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TOPBP1
Protein TOPBP1 PDB 1wf6.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTOPBP1, TOP2BP1, topoisomerase (DNA) II binding protein 1, DNA topoisomerase II binding protein 1, Dpb11
External IDsOMIM: 607760 MGI: 1920018 HomoloGene: 38262 GeneCards: TOPBP1
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for TOPBP1
Genomic location for TOPBP1
Band3q22.1Start133,598,175 bp[1]
End133,662,380 bp[1]
RNA expression pattern
PBB GE TOPBP1 202633 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_007027
NM_001363889

NM_176979

RefSeq (protein)

NP_008958
NP_001350818
NP_008958.2

NP_795953

Location (UCSC)Chr 3: 133.6 – 133.66 MbChr 9: 103.31 – 103.35 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

DNA topoisomerase 2-binding protein 1 is an enzyme that in humans is encoded by the TOPBP1 gene.[5][6][7]

Function[edit]

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.[7]

Meiotic silencing[edit]

In mammals, surveillance mechanisms remove meiotic cells in which chromosome synapsis is defective. One such surveillance mechanism is meiotic silencing, the transcriptional silencing of genes on asynapsed chromosomes.[8] TOPBP1, a DNA damage response protein, has a crucial role in meiotic sex chromosome silencing.[8]

Interactions[edit]

TOPBP1 has been shown to interact with:

Clinical relevance[edit]

This gene may be involved in the development of ovarian and breast cancer.[15]

Mutations in TOPBP1 cause Idiopathic pulmonary arterial hypertension.[16]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163781 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000032555 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Yamane K, Kawabata M, Tsuruo T (Dec 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 / FEBS. 250 (3): 794–9. doi:10.1111/j.1432-1033.1997.00794.x. PMID 9461304.
  6. ^ Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N (Oct 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.
  7. ^ a b "Entrez Gene: TOPBP1 topoisomerase (DNA) II binding protein 1".
  8. ^ a b ElInati E, Russell HR, Ojarikre OA, Sangrithi M, Hirota T, de Rooij DG, McKinnon PJ, Turner JM (2017). "DNA damage response protein TOPBP1 regulates X chromosome silencing in the mammalian germ line". Proc. Natl. Acad. Sci. U.S.A. 114 (47): 12536–12541. doi:10.1073/pnas.1712530114. PMC 5703310. PMID 29114052.
  9. ^ Liu K, Lin FT, Ruppert JM, Lin WC (May 2003). "Regulation of E2F1 by BRCT domain-containing protein TopBP1". Molecular and Cellular Biology. 23 (9): 3287–304. doi:10.1128/mcb.23.9.3287-3304.2003. PMC 153207. PMID 12697828.
  10. ^ Yu X, Chini CC, He M, Mer G, Chen J (Oct 2003). "The BRCT domain is a phospho-protein binding domain". Science. 302 (5645): 639–42. doi:10.1126/science.1088753. PMID 14576433.
  11. ^ Xu ZX, Timanova-Atanasova A, Zhao RX, Chang KS (Jun 2003). "PML colocalizes with and stabilizes the DNA damage response protein TopBP1". Molecular and Cellular Biology. 23 (12): 4247–56. doi:10.1128/mcb.23.12.4247-4256.2003. PMC 156140. PMID 12773567.
  12. ^ Mäkiniemi M, Hillukkala T, Tuusa J, Reini K, Vaara M, Huang D, Pospiech H, Majuri I, Westerling T, Mäkelä TP, Syväoja JE (Aug 2001). "BRCT domain-containing protein TopBP1 functions in DNA replication and damage response". The Journal of Biological Chemistry. 276 (32): 30399–406. doi:10.1074/jbc.M102245200. PMID 11395493.
  13. ^ Honda Y, Tojo M, Matsuzaki K, Anan T, Matsumoto M, Ando M, Saya H, Nakao M (Feb 2002). "Cooperation of HECT-domain ubiquitin ligase hHYD and DNA topoisomerase II-binding protein for DNA damage response". The Journal of Biological Chemistry. 277 (5): 3599–605. doi:10.1074/jbc.M104347200. PMID 11714696.
  14. ^ Herold S, Wanzel M, Beuger V, Frohme C, Beul D, Hillukkala T, Syvaoja J, Saluz HP, Haenel F, Eilers M (Sep 2002). "Negative regulation of the mammalian UV response by Myc through association with Miz-1". Molecular Cell. 10 (3): 509–21. doi:10.1016/s1097-2765(02)00633-0. PMID 12408820.
  15. ^ 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
  16. ^ de Jesus Perez VA, Yuan K, Lyuksyutova MA, Dewey F, Orcholski ME, Shuffle EM, Mathur M, Yancy L, Rojas V, Li CG, Cao A, Alastalo TP, Khazeni N, Cimprich KA, Butte AJ, Ashley E, Zamanian RT (May 2014). "Whole-exome sequencing reveals TopBP1 as a novel gene in idiopathic pulmonary arterial hypertension". American Journal of Respiratory and Critical Care Medicine. 189 (10): 1260–72. doi:10.1164/rccm.201310-1749OC. PMC 4225850. PMID 24702692.

Further reading[edit]