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2ilr
From Proteopedia
| 2ilr, resolution 2.00Å () | |||||||||||
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| Gene: | FANCE (Homo sapiens) | ||||||||||
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| Resources: | FirstGlance, OCA, PDBsum, RCSB | ||||||||||
| Coordinates: | save as pdb, mmCIF, xml | ||||||||||
Contents |
Crystal structure of human Fanconi Anemia protein E C-terminal domain
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.
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
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
Disease
Known disease associated with this structure: Fanconi anemia, complementation group E OMIM:[600901]
About this Structure
2ILR is a 1 chain structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Nookala RK, Hussain S, Pellegrini L. Insights into Fanconi Anaemia from the structure of human FANCE. Nucleic Acids Res. 2007;35(5):1638-48. Epub 2007 Feb 18. PMID:17308347 doi:10.1093/nar/gkm033
Page seeded by OCA on Tue Feb 17 20:24:15 2009
