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- | {{Seed}} | |
- | [[Image:2kv2.jpg|left|200px]] | |
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- | <!-- | + | ==Solution Structure of the human BLM HRDC domain== |
- | The line below this paragraph, containing "STRUCTURE_2kv2", creates the "Structure Box" on the page.
| + | <StructureSection load='2kv2' size='340' side='right'caption='[[2kv2]]' scene=''> |
- | You may change the PDB parameter (which sets the PDB file loaded into the applet)
| + | == Structural highlights == |
- | or the SCENE parameter (which sets the initial scene displayed when the page is loaded),
| + | <table><tr><td colspan='2'>[[2kv2]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KV2 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2KV2 FirstGlance]. <br> |
- | or leave the SCENE parameter empty for the default display.
| + | </td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Solution NMR</td></tr> |
- | --> | + | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2kv2 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kv2 OCA], [https://pdbe.org/2kv2 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2kv2 RCSB], [https://www.ebi.ac.uk/pdbsum/2kv2 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2kv2 ProSAT]</span></td></tr> |
- | {{STRUCTURE_2kv2| PDB=2kv2 | SCENE= }}
| + | </table> |
| + | == Disease == |
| + | [https://www.uniprot.org/uniprot/BLM_HUMAN BLM_HUMAN] Bloom syndrome. The disease is caused by mutations affecting the gene represented in this entry. |
| + | == Function == |
| + | [https://www.uniprot.org/uniprot/BLM_HUMAN BLM_HUMAN] Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA. Negatively regulates sister chromatid exchange (SCE).<ref>PMID:9388193</ref> <ref>PMID:12019152</ref> <ref>PMID:21325134</ref> <ref>PMID:23509288</ref> |
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- | ===Solution Structure of the human BLM HRDC domain=== | + | ==See Also== |
- | | + | *[[Helicase 3D structures|Helicase 3D structures]] |
- | | + | == References == |
- | <!--
| + | <references/> |
- | The line below this paragraph, {{ABSTRACT_PUBMED_20639533}}, adds the Publication Abstract to the page
| + | __TOC__ |
- | (as it appears on PubMed at http://www.pubmed.gov), where 20639533 is the PubMed ID number.
| + | </StructureSection> |
- | -->
| + | |
- | {{ABSTRACT_PUBMED_20639533}}
| + | |
- | | + | |
- | ==About this Structure==
| + | |
- | 2KV2 is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KV2 OCA].
| + | |
- | | + | |
- | ==Reference== | + | |
- | <ref group="xtra">PMID:20639533</ref><references group="xtra"/> | + | |
| [[Category: Homo sapiens]] | | [[Category: Homo sapiens]] |
- | [[Category: Choi, B S.]] | + | [[Category: Large Structures]] |
- | [[Category: Kim, Y M.]] | + | [[Category: Choi B-S]] |
- | [[Category: Bloom syndrome]]
| + | [[Category: Kim YM]] |
- | [[Category: Disease mutation]]
| + | |
- | [[Category: Dna replication]]
| + | |
- | [[Category: Dna-binding]]
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- | [[Category: Gene regulation]] | + | |
- | [[Category: Hrdc domain]]
| + | |
- | [[Category: Nucleotide-binding]]
| + | |
- | [[Category: Nucleus]]
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- | | + | |
- | ''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Wed Dec 15 08:38:17 2010''
| + | |
| Structural highlights
Disease
BLM_HUMAN Bloom syndrome. The disease is caused by mutations affecting the gene represented in this entry.
Function
BLM_HUMAN Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA. Negatively regulates sister chromatid exchange (SCE).[1] [2] [3] [4]
See Also
References
- ↑ Karow JK, Chakraverty RK, Hickson ID. The Bloom's syndrome gene product is a 3'-5' DNA helicase. J Biol Chem. 1997 Dec 5;272(49):30611-4. PMID:9388193
- ↑ Langland G, Elliott J, Li Y, Creaney J, Dixon K, Groden J. The BLM helicase is necessary for normal DNA double-strand break repair. Cancer Res. 2002 May 15;62(10):2766-70. PMID:12019152
- ↑ Nimonkar AV, Genschel J, Kinoshita E, Polaczek P, Campbell JL, Wyman C, Modrich P, Kowalczykowski SC. BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair. Genes Dev. 2011 Feb 15;25(4):350-62. doi: 10.1101/gad.2003811. PMID:21325134 doi:http://dx.doi.org/10.1101/gad.2003811
- ↑ Wan L, Han J, Liu T, Dong S, Xie F, Chen H, Huang J. Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. Proc Natl Acad Sci U S A. 2013 Jun 25;110(26):10646-51. doi:, 10.1073/pnas.1220921110. Epub 2013 Mar 18. PMID:23509288 doi:http://dx.doi.org/10.1073/pnas.1220921110
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