2ilr

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{{STRUCTURE_2ilr| PDB=2ilr | SCENE= }}
{{STRUCTURE_2ilr| PDB=2ilr | SCENE= }}
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'''Crystal structure of human Fanconi Anemia protein E C-terminal domain'''
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===Crystal structure of human Fanconi Anemia protein E C-terminal domain===
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==Overview==
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Fanconi Anaemia (FA) is a cancer predisposition disorder characterized by spontaneous chromosome breakage and high cellular sensitivity to genotoxic agents. In response to DNA damage, a multi-subunit assembly of FA proteins, the FA core complex, monoubiquitinates the downstream FANCD2 protein. The FANCE protein plays an essential role in the FA process of DNA repair as the FANCD2-binding component of the FA core complex. Here we report a crystallographic and biological study of human FANCE. The first structure of a FA protein reveals the presence of a repeated helical motif that provides a template for the structural rationalization of other proteins defective in Fanconi Anaemia. The portion of FANCE defined by our crystallographic analysis is sufficient for interaction with FANCD2, yielding structural information into the mode of FANCD2 recruitment to the FA core complex. Disease-associated mutations disrupt the FANCE-FANCD2 interaction, providing structural insight into the molecular mechanisms of FA pathogenesis.
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(as it appears on PubMed at http://www.pubmed.gov), where 17308347 is the PubMed ID number.
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{{ABSTRACT_PUBMED_17308347}}
==Disease==
==Disease==
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[[Category: Fanc repeat]]
[[Category: Fanc repeat]]
[[Category: Helical repeat]]
[[Category: Helical repeat]]
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sun May 4 07:38:00 2008''
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''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Tue Jul 29 04:17:37 2008''

Revision as of 01:17, 29 July 2008

Image:2ilr.png

Template:STRUCTURE 2ilr

Contents

Crystal structure of human Fanconi Anemia protein E C-terminal domain

Template:ABSTRACT PUBMED 17308347

Disease

Known disease associated with this structure: Fanconi anemia, complementation group E OMIM:[600901]

About this Structure

2ILR is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

Insights into Fanconi Anaemia from the structure of human FANCE., Nookala RK, Hussain S, Pellegrini L, Nucleic Acids Res. 2007;35(5):1638-48. Epub 2007 Feb 18. PMID:17308347

Page seeded by OCA on Tue Jul 29 04:17:37 2008

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