View source for 9ejb


==Human FANCJ helicase bound to a fork DNA in the open state==
<StructureSection load='9ejb' size='340' side='right'caption='[[9ejb]], [[Resolution|resolution]] 3.60&Aring;' scene=''>
== Structural highlights ==
<table><tr><td colspan='2'>[[9ejb]] is a 2 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens] and [https://en.wikipedia.org/wiki/Synthetic_construct Synthetic construct]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=9EJB OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=9EJB FirstGlance]. <br>
</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">Electron Microscopy, [[Resolution|Resolution]] 3.6&#8491;</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=9ejb FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=9ejb OCA], [https://pdbe.org/9ejb PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=9ejb RCSB], [https://www.ebi.ac.uk/pdbsum/9ejb PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=9ejb ProSAT]</span></td></tr>
</table>
== Disease ==
[https://www.uniprot.org/uniprot/FANCJ_HUMAN FANCJ_HUMAN] Defects in BRIP1 are a cause of susceptibility to breast cancer (BC) [MIM:[https://omim.org/entry/114480 114480]. A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.<ref>PMID:11301010</ref> <ref>PMID:14983014</ref> <ref>PMID:16153896</ref> <ref>PMID:16116421</ref>   Defects in BRIP1 are the cause of Fanconi anemia complementation group J (FANCJ) [MIM:[https://omim.org/entry/609054 609054]. It is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.<ref>PMID:16153896</ref> <ref>PMID:16116421</ref> <ref>PMID:20639400</ref> <ref>PMID:16116424</ref> <ref>PMID:16116423</ref> 
== Function ==
[https://www.uniprot.org/uniprot/FANCJ_HUMAN FANCJ_HUMAN] DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1.<ref>PMID:11301010</ref> <ref>PMID:14983014</ref> <ref>PMID:16153896</ref> <ref>PMID:16116421</ref> 
== References ==
<references/>
__TOC__
</StructureSection>
[[Category: Homo sapiens]]
[[Category: Large Structures]]
[[Category: Synthetic construct]]
[[Category: Li H]]
[[Category: You Q]]