2ilr

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Template:STRUCTURE 2ilr

Contents

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

Template:ABSTRACT PUBMED 17308347

Disease

[FANCE_HUMAN] Defects in FANCE are a cause of Fanconi anemia complementation group E (FANCE) [MIM:600901]. 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.[1]

Function

[FANCE_HUMAN] As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.[2][3]

About this Structure

2ilr is a 1 chain structure with 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
  1. ↑ de Winter JP, Leveille F, van Berkel CG, Rooimans MA, van Der Weel L, Steltenpool J, Demuth I, Morgan NV, Alon N, Bosnoyan-Collins L, Lightfoot J, Leegwater PA, Waisfisz Q, Komatsu K, Arwert F, Pronk JC, Mathew CG, Digweed M, Buchwald M, Joenje H. Isolation of a cDNA representing the Fanconi anemia complementation group E gene. Am J Hum Genet. 2000 Nov;67(5):1306-8. Epub 2000 Sep 19. PMID:11001585 doi:S0002-9297(07)62959-0
  2. ↑ Pace P, Johnson M, Tan WM, Mosedale G, Sng C, Hoatlin M, de Winter J, Joenje H, Gergely F, Patel KJ. FANCE: the link between Fanconi anaemia complex assembly and activity. EMBO J. 2002 Jul 1;21(13):3414-23. PMID:12093742 doi:10.1093/emboj/cdf355
  3. ↑ Wang X, Kennedy RD, Ray K, Stuckert P, Ellenberger T, D'Andrea AD. Chk1-mediated phosphorylation of FANCE is required for the Fanconi anemia/BRCA pathway. Mol Cell Biol. 2007 Apr;27(8):3098-108. Epub 2007 Feb 12. PMID:17296736 doi:10.1128/MCB.02357-06

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