TOPBP1: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
m (Robot: Automated text replacement (-{{reflist}} +{{reflist|2}}, -<references /> +{{reflist|2}}, -{{WikiDoc Cardiology Network Infobox}} +))
 
imported>Citation bot
m (Add: pmc. You can use this bot yourself. Report bugs here.)
 
(One intermediate revision by one other user not shown)
Line 1: Line 1:
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''DNA topoisomerase 2-binding protein 1''' is an [[enzyme]] that in humans is encoded by the ''TOPBP1'' [[gene]].<ref name="pmid9461304">{{cite journal | vauthors = Yamane K, Kawabata M, Tsuruo T | title = A DNA-topoisomerase-II-binding protein with eight repeating regions similar to DNA-repair enzymes and to a cell-cycle regulator | journal = European Journal of Biochemistry / FEBS | volume = 250 | issue = 3 | pages = 794–9 | date = Dec 1997 | pmid = 9461304 | pmc =  | doi = 10.1111/j.1432-1033.1997.00794.x }}</ref><ref name="pmid9039502">{{cite journal | vauthors = Nagase T, Seki N, Ishikawa K, Ohira M, Kawarabayasi Y, Ohara O, Tanaka A, Kotani H, Miyajima N, Nomura N | title = 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 | journal = DNA Research | volume = 3 | issue = 5 | pages = 321–9, 341–54 | date = Oct 1996 | pmid = 9039502 | pmc =  | doi = 10.1093/dnares/3.5.321 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TOPBP1 topoisomerase (DNA) II binding protein 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11073| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_TOPBP1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1wf6.
| PDB = {{PDB2|1wf6}}
| Name = Topoisomerase (DNA) II binding protein 1
| HGNCid = 17008
| Symbol = TOPBP1
| AltSymbols =; TOP2BP1
| OMIM = 607760
| ECnumber = 
| Homologene = 38262
| MGIid = 1920018
| GeneAtlas_image1 = PBB_GE_TOPBP1_202633_at_tn.png
| Function = {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0008022 |text = protein C-terminus binding}}
| Component = {{GNF_GO|id=GO:0000794 |text = condensed nuclear chromosome}} {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006281 |text = DNA repair}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 11073
    | Hs_Ensembl = ENSG00000163781
    | Hs_RefseqProtein = NP_008958
    | Hs_RefseqmRNA = NM_007027
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 3
    | Hs_GenLoc_start = 134802140
    | Hs_GenLoc_end = 134863380
    | Hs_Uniprot = Q92547
    | Mm_EntrezGene = 235559
    | Mm_Ensembl = ENSMUSG00000032555
    | Mm_RefseqmRNA = NM_176979
    | Mm_RefseqProtein = NP_795953
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 9
    | Mm_GenLoc_start = 103163365
    | Mm_GenLoc_end = 103208582
    | Mm_Uniprot = Q6ZQF0
  }}
}}
'''Topoisomerase (DNA) II binding protein 1''', also known as '''TOPBP1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: TOPBP1 topoisomerase (DNA) II binding protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11073| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez"/>
{{PBB_Summary
==Meiotic silencing==
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: TOPBP1 topoisomerase (DNA) II binding protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11073| accessdate = }}</ref>
}}


==References==
In mammals, surveillance mechanisms remove [[meiosis|meiotic]] cells in which chromosome [[synapsis]] is defective.  One such surveillance mechanism is meiotic silencing, the transcriptional silencing of [[gene]]s on asynapsed [[chromosome]]s.<ref name="pmid29114052">{{cite journal |vauthors=ElInati E, Russell HR, Ojarikre OA, Sangrithi M, Hirota T, de Rooij DG, McKinnon PJ, Turner JM |title=DNA damage response protein TOPBP1 regulates X chromosome silencing in the mammalian germ line |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=114 |issue=47 |pages=12536–12541 |year=2017 |pmid=29114052 |doi=10.1073/pnas.1712530114 |pmc=5703310}}</ref> TOPBP1, a [[DNA damage (naturally occurring)|DNA damage]] response protein, has a crucial role in meiotic [[X chromosome|sex chromosome]] silencing.<ref name="pmid29114052" />
{{reflist|2}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  | author=Nagase T, Seki N, Ishikawa K, ''et al.'' |title=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. |journal=DNA Res. |volume=3 |issue= 5 |pages= 321-9, 341-54 |year= 1997 |pmid= 9039502 |doi= }}
*{{cite journal  | author=Yamane K, Kawabata M, Tsuruo T |title=A DNA-topoisomerase-II-binding protein with eight repeating regions similar to DNA-repair enzymes and to a cell-cycle regulator. |journal=Eur. J. Biochem. |volume=250 |issue= 3 |pages= 794-9 |year= 1997 |pmid= 9461304 |doi=  }}
*{{cite journal  | author=Yamane K, Tsuruo T |title=Conserved BRCT regions of TopBP1 and of the tumor suppressor BRCA1 bind strand breaks and termini of DNA. |journal=Oncogene |volume=18 |issue= 37 |pages= 5194-203 |year= 1999 |pmid= 10498869 |doi= 10.1038/sj.onc.1202922 }}
*{{cite journal | author=Mäkiniemi M, Hillukkala T, Tuusa J, ''et al.'' |title=BRCT domain-containing protein TopBP1 functions in DNA replication and damage response. |journal=J. Biol. Chem. |volume=276 |issue= 32 |pages= 30399-406 |year= 2001 |pmid= 11395493 |doi= 10.1074/jbc.M102245200 }}
*{{cite journal  | author=Honda Y, Tojo M, Matsuzaki K, ''et al.'' |title=Cooperation of HECT-domain ubiquitin ligase hHYD and DNA topoisomerase II-binding protein for DNA damage response. |journal=J. Biol. Chem. |volume=277 |issue= 5 |pages= 3599-605 |year= 2002 |pmid= 11714696 |doi= 10.1074/jbc.M104347200 }}
*{{cite journal  | author=Yamane K, Wu X, Chen J |title=A DNA damage-regulated BRCT-containing protein, TopBP1, is required for cell survival. |journal=Mol. Cell. Biol. |volume=22 |issue= 2 |pages= 555-66 |year= 2002 |pmid= 11756551 |doi=  }}
*{{cite journal  | author=Boner W, Taylor ER, Tsirimonaki E, ''et al.'' |title=A Functional interaction between the human papillomavirus 16 transcription/replication factor E2 and the DNA damage response protein TopBP1. |journal=J. Biol. Chem. |volume=277 |issue= 25 |pages= 22297-303 |year= 2002 |pmid= 11934899 |doi= 10.1074/jbc.M202163200 }}
*{{cite journal  | author=Herold S, Wanzel M, Beuger V, ''et al.'' |title=Negative regulation of the mammalian UV response by Myc through association with Miz-1. |journal=Mol. Cell |volume=10 |issue= 3 |pages= 509-21 |year= 2002 |pmid= 12408820 |doi=  }}
*{{cite journal  | author=Nakayama M, Kikuno R, Ohara O |title=Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. |journal=Genome Res. |volume=12 |issue= 11 |pages= 1773-84 |year= 2003 |pmid= 12421765 |doi= 10.1101/gr.406902 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Liu K, Lin FT, Ruppert JM, Lin WC |title=Regulation of E2F1 by BRCT domain-containing protein TopBP1. |journal=Mol. Cell. Biol. |volume=23 |issue= 9 |pages= 3287-304 |year= 2003 |pmid= 12697828 |doi=  }}
*{{cite journal  | author=Xu ZX, Timanova-Atanasova A, Zhao RX, Chang KS |title=PML colocalizes with and stabilizes the DNA damage response protein TopBP1. |journal=Mol. Cell. Biol. |volume=23 |issue= 12 |pages= 4247-56 |year= 2003 |pmid= 12773567 |doi=  }}
*{{cite journal  | author=Yamane K, Chen J, Kinsella TJ |title=Both DNA topoisomerase II-binding protein 1 and BRCA1 regulate the G2-M cell cycle checkpoint. |journal=Cancer Res. |volume=63 |issue= 12 |pages= 3049-53 |year= 2003 |pmid= 12810625 |doi=  }}
*{{cite journal  | author=Greer DA, Besley BD, Kennedy KB, Davey S |title=hRad9 rapidly binds DNA containing double-strand breaks and is required for damage-dependent topoisomerase II beta binding protein 1 focus formation. |journal=Cancer Res. |volume=63 |issue= 16 |pages= 4829-35 |year= 2003 |pmid= 12941802 |doi=  }}
*{{cite journal  | author=Manke IA, Lowery DM, Nguyen A, Yaffe MB |title=BRCT repeats as phosphopeptide-binding modules involved in protein targeting. |journal=Science |volume=302 |issue= 5645 |pages= 636-9 |year= 2003 |pmid= 14576432 |doi= 10.1126/science.1088877 }}
*{{cite journal  | author=Yu X, Chini CC, He M, ''et al.'' |title=The BRCT domain is a phospho-protein binding domain. |journal=Science |volume=302 |issue= 5645 |pages= 639-42 |year= 2003 |pmid= 14576433 |doi= 10.1126/science.1088753 }}
*{{cite journal  | author=Liu K, Luo Y, Lin FT, Lin WC |title=TopBP1 recruits Brg1/Brm to repress E2F1-induced apoptosis, a novel pRb-independent and E2F1-specific control for cell survival. |journal=Genes Dev. |volume=18 |issue= 6 |pages= 673-86 |year= 2004 |pmid= 15075294 |doi= 10.1101/gad.1180204 }}
*{{cite journal  | author=Reini K, Uitto L, Perera D, ''et al.'' |title=TopBP1 localises to centrosomes in mitosis and to chromosome cores in meiosis. |journal=Chromosoma |volume=112 |issue= 7 |pages= 323-30 |year= 2005 |pmid= 15138768 |doi= 10.1007/s00412-004-0277-5 }}
*{{cite journal  | author=Hassel S, Eichner A, Yakymovych M, ''et al.'' |title=Proteins associated with type II bone morphogenetic protein receptor (BMPR-II) and identified by two-dimensional gel electrophoresis and mass spectrometry. |journal=Proteomics |volume=4 |issue= 5 |pages= 1346-58 |year= 2004 |pmid= 15188402 |doi= 10.1002/pmic.200300770 }}
*{{cite journal  | author=Yoshida K, Inoue I |title=Expression of MCM10 and TopBP1 is regulated by cell proliferation and UV irradiation via the E2F transcription factor. |journal=Oncogene |volume=23 |issue= 37 |pages= 6250-60 |year= 2004 |pmid= 15195143 |doi= 10.1038/sj.onc.1207829 }}
}}
{{refend}}


{{protein-stub}}
== Interactions ==
{{WikiDoc Sources}}
 
TOPBP1 has been shown to [[Protein-protein interaction|interact]] with:
{{div col|colwidth=20em}}
* [[E2F1]],<ref name = pmid12697828>{{cite journal | vauthors = Liu K, Lin FT, Ruppert JM, Lin WC | title = Regulation of E2F1 by BRCT domain-containing protein TopBP1 | journal = Molecular and Cellular Biology | volume = 23 | issue = 9 | pages = 3287–304 | date = May 2003 | pmid = 12697828 | pmc = 153207 | doi =  10.1128/mcb.23.9.3287-3304.2003}}</ref><ref name = pmid14576433>{{cite journal | vauthors = Yu X, Chini CC, He M, Mer G, Chen J | title = The BRCT domain is a phospho-protein binding domain | journal = Science | volume = 302 | issue = 5645 | pages = 639–42 | date = Oct 2003 | pmid = 14576433 | doi = 10.1126/science.1088753 }}</ref>
* [[Promyelocytic leukemia protein]],<ref name = pmid12773567>{{cite journal | vauthors = Xu ZX, Timanova-Atanasova A, Zhao RX, Chang KS | title = PML colocalizes with and stabilizes the DNA damage response protein TopBP1 | journal = Molecular and Cellular Biology | volume = 23 | issue = 12 | pages = 4247–56 | date = Jun 2003 | pmid = 12773567 | pmc = 156140 | doi =  10.1128/mcb.23.12.4247-4256.2003}}</ref>
* [[RAD9A]],<ref name = pmid11395493>{{cite journal | vauthors = Mäkiniemi M, Hillukkala T, Tuusa J, Reini K, Vaara M, Huang D, Pospiech H, Majuri I, Westerling T, Mäkelä TP, Syväoja JE | title = BRCT domain-containing protein TopBP1 functions in DNA replication and damage response | journal = The Journal of Biological Chemistry | volume = 276 | issue = 32 | pages = 30399–406 | date = Aug 2001 | pmid = 11395493 | doi = 10.1074/jbc.M102245200 }}</ref>
* [[UBR5]],<ref name = pmid11714696>{{cite journal | vauthors = Honda Y, Tojo M, Matsuzaki K, Anan T, Matsumoto M, Ando M, Saya H, Nakao M | title = Cooperation of HECT-domain ubiquitin ligase hHYD and DNA topoisomerase II-binding protein for DNA damage response | journal = The Journal of Biological Chemistry | volume = 277 | issue = 5 | pages = 3599–605 | date = Feb 2002 | pmid = 11714696 | doi = 10.1074/jbc.M104347200 }}</ref> and
* [[ZBTB17]]<ref name = pmid12408820>{{cite journal | vauthors = Herold S, Wanzel M, Beuger V, Frohme C, Beul D, Hillukkala T, Syvaoja J, Saluz HP, Haenel F, Eilers M | title = Negative regulation of the mammalian UV response by Myc through association with Miz-1 | journal = Molecular Cell | volume = 10 | issue = 3 | pages = 509–21 | date = Sep 2002 | pmid = 12408820 | doi =  10.1016/s1097-2765(02)00633-0}}</ref>
{{Div col end}}
 
== Clinical relevance ==
 
This gene may be involved in the development of ovarian and breast cancer.<ref name=Forma2013>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</ref>
 
Mutations in TOPBP1 cause {{SWL|type=mutation_results_in|target=arterial hypertension|label=Idiopathic pulmonary arterial hypertension}}.<ref>{{cite journal | vauthors = 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 | title = Whole-exome sequencing reveals TopBP1 as a novel gene in idiopathic pulmonary arterial hypertension | journal = American Journal of Respiratory and Critical Care Medicine | volume = 189 | issue = 10 | pages = 1260–72 | date = May 2014 | pmid = 24702692 | pmc = 4225850 | doi = 10.1164/rccm.201310-1749OC }}</ref>
 
== References ==
{{Reflist}}
 
== Further reading ==
{{Refbegin | 2}}
* {{cite journal | vauthors = Yamane K, Tsuruo T | title = Conserved BRCT regions of TopBP1 and of the tumor suppressor BRCA1 bind strand breaks and termini of DNA | journal = Oncogene | volume = 18 | issue = 37 | pages = 5194–203 | date = Sep 1999 | pmid = 10498869 | doi = 10.1038/sj.onc.1202922 }}
* {{cite journal | vauthors = Mäkiniemi M, Hillukkala T, Tuusa J, Reini K, Vaara M, Huang D, Pospiech H, Majuri I, Westerling T, Mäkelä TP, Syväoja JE | title = BRCT domain-containing protein TopBP1 functions in DNA replication and damage response | journal = The Journal of Biological Chemistry | volume = 276 | issue = 32 | pages = 30399–406 | date = Aug 2001 | pmid = 11395493 | doi = 10.1074/jbc.M102245200 }}
* {{cite journal | vauthors = Honda Y, Tojo M, Matsuzaki K, Anan T, Matsumoto M, Ando M, Saya H, Nakao M | title = Cooperation of HECT-domain ubiquitin ligase hHYD and DNA topoisomerase II-binding protein for DNA damage response | journal = The Journal of Biological Chemistry | volume = 277 | issue = 5 | pages = 3599–605 | date = Feb 2002 | pmid = 11714696 | doi = 10.1074/jbc.M104347200 }}
* {{cite journal | vauthors = Yamane K, Wu X, Chen J | title = A DNA damage-regulated BRCT-containing protein, TopBP1, is required for cell survival | journal = Molecular and Cellular Biology | volume = 22 | issue = 2 | pages = 555–66 | date = Jan 2002 | pmid = 11756551 | pmc = 139754 | doi = 10.1128/MCB.22.2.555-566.2002 }}
* {{cite journal | vauthors = Boner W, Taylor ER, Tsirimonaki E, Yamane K, Campo MS, Morgan IM | title = A Functional interaction between the human papillomavirus 16 transcription/replication factor E2 and the DNA damage response protein TopBP1 | journal = The Journal of Biological Chemistry | volume = 277 | issue = 25 | pages = 22297–303 | date = Jun 2002 | pmid = 11934899 | doi = 10.1074/jbc.M202163200 }}
* {{cite journal | vauthors = Herold S, Wanzel M, Beuger V, Frohme C, Beul D, Hillukkala T, Syvaoja J, Saluz HP, Haenel F, Eilers M | title = Negative regulation of the mammalian UV response by Myc through association with Miz-1 | journal = Molecular Cell | volume = 10 | issue = 3 | pages = 509–21 | date = Sep 2002 | pmid = 12408820 | doi = 10.1016/S1097-2765(02)00633-0 }}
* {{cite journal | vauthors = Nakayama M, Kikuno R, Ohara O | title = Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs | journal = Genome Research | volume = 12 | issue = 11 | pages = 1773–84 | date = Nov 2002 | pmid = 12421765 | pmc = 187542 | doi = 10.1101/gr.406902 }}
* {{cite journal | vauthors = Liu K, Lin FT, Ruppert JM, Lin WC | title = Regulation of E2F1 by BRCT domain-containing protein TopBP1 | journal = Molecular and Cellular Biology | volume = 23 | issue = 9 | pages = 3287–304 | date = May 2003 | pmid = 12697828 | pmc = 153207 | doi = 10.1128/MCB.23.9.3287-3304.2003 }}
* {{cite journal | vauthors = Xu ZX, Timanova-Atanasova A, Zhao RX, Chang KS | title = PML colocalizes with and stabilizes the DNA damage response protein TopBP1 | journal = Molecular and Cellular Biology | volume = 23 | issue = 12 | pages = 4247–56 | date = Jun 2003 | pmid = 12773567 | pmc = 156140 | doi = 10.1128/MCB.23.12.4247-4256.2003 }}
* {{cite journal | vauthors = Yamane K, Chen J, Kinsella TJ | title = Both DNA topoisomerase II-binding protein 1 and BRCA1 regulate the G2-M cell cycle checkpoint | journal = Cancer Research | volume = 63 | issue = 12 | pages = 3049–53 | date = Jun 2003 | pmid = 12810625 | doi =  }}
* {{cite journal | vauthors = Greer DA, Besley BD, Kennedy KB, Davey S | title = hRad9 rapidly binds DNA containing double-strand breaks and is required for damage-dependent topoisomerase II beta binding protein 1 focus formation | journal = Cancer Research | volume = 63 | issue = 16 | pages = 4829–35 | date = Aug 2003 | pmid = 12941802 | doi =  }}
* {{cite journal | vauthors = Manke IA, Lowery DM, Nguyen A, Yaffe MB | title = BRCT repeats as phosphopeptide-binding modules involved in protein targeting | journal = Science | volume = 302 | issue = 5645 | pages = 636–9 | date = Oct 2003 | pmid = 14576432 | doi = 10.1126/science.1088877 }}
* {{cite journal | vauthors = Yu X, Chini CC, He M, Mer G, Chen J | title = The BRCT domain is a phospho-protein binding domain | journal = Science | volume = 302 | issue = 5645 | pages = 639–42 | date = Oct 2003 | pmid = 14576433 | doi = 10.1126/science.1088753 }}
* {{cite journal | vauthors = Liu K, Luo Y, Lin FT, Lin WC | title = TopBP1 recruits Brg1/Brm to repress E2F1-induced apoptosis, a novel pRb-independent and E2F1-specific control for cell survival | journal = Genes & Development | volume = 18 | issue = 6 | pages = 673–86 | date = Mar 2004 | pmid = 15075294 | pmc = 387242 | doi = 10.1101/gad.1180204 }}
* {{cite journal | vauthors = Reini K, Uitto L, Perera D, Moens PB, Freire R, Syväoja JE | title = TopBP1 localises to centrosomes in mitosis and to chromosome cores in meiosis | journal = Chromosoma | volume = 112 | issue = 7 | pages = 323–30 | date = May 2004 | pmid = 15138768 | doi = 10.1007/s00412-004-0277-5 }}
* {{cite journal | vauthors = Hassel S, Eichner A, Yakymovych M, Hellman U, Knaus P, Souchelnytskyi S | title = Proteins associated with type II bone morphogenetic protein receptor (BMPR-II) and identified by two-dimensional gel electrophoresis and mass spectrometry | journal = Proteomics | volume = 4 | issue = 5 | pages = 1346–58 | date = May 2004 | pmid = 15188402 | doi = 10.1002/pmic.200300770 }}
* {{cite journal | vauthors = Yoshida K, Inoue I | title = Expression of MCM10 and TopBP1 is regulated by cell proliferation and UV irradiation via the E2F transcription factor | journal = Oncogene | volume = 23 | issue = 37 | pages = 6250–60 | date = Aug 2004 | pmid = 15195143 | doi = 10.1038/sj.onc.1207829 }}
{{Refend}}
 
{{PDB Gallery|geneid=11073}}

Latest revision as of 06:14, 23 April 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

Function

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]

Meiotic silencing

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.[4] TOPBP1, a DNA damage response protein, has a crucial role in meiotic sex chromosome silencing.[4]

Interactions

TOPBP1 has been shown to interact with:

Clinical relevance

This gene may be involved in the development of ovarian and breast cancer.[11]

Mutations in TOPBP1 cause Idiopathic pulmonary arterial hypertension .[12]

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 3.0 3.1 "Entrez Gene: TOPBP1 topoisomerase (DNA) II binding protein 1".
  4. ↑ 4.0 4.1 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.
  5. ↑ 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.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ 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.
  9. ↑ 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.
  10. ↑ 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.
  11. ↑ 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
  12. ↑ 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

Retrieved from "https://www.wikidoc.org/index.php?title=TOPBP1&oldid=1532271"