2ILR

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

2ILR の概要

• エントリーDOI: 10.2210/pdb2ilr/pdb
• 分子名称: Fanconi anemia group E protein (2 entities in total)
• 機能のキーワード: antiparallel helical hairpin, helical repeat, fanc repeat, oncoprotein
• 由来する生物種: Homo sapiens (human)
• 細胞内の位置: Nucleus: Q9HB96
• タンパク質・核酸の鎖数: 1
• 化学式量合計: 28986.13

構造登録者

Pellegrini, L.,Nookala, R.K. (登録日: 2006-10-03, 公開日: 2007-02-27, 最終更新日: 2024-05-29)

主引用文献

Nookala, R.K.,Hussain, S.,Pellegrini, L.
Insights into Fanconi Anaemia from the structure of human FANCE
Nucleic Acids Res., 35:1638-1648, 2007

PubMed Abstract: 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.

PubMed: 17308347
DOI: 10.1093/nar/gkm033

実験手法

X-RAY DIFFRACTION (2 Å)