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2ilr
From Proteopedia
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| - | [[Image:2ilr.png|left|200px]] | ||
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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=== | ===Crystal structure of human Fanconi Anemia protein E C-terminal domain=== | ||
| + | {{ABSTRACT_PUBMED_17308347}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/FANCE_HUMAN FANCE_HUMAN]] Defects in FANCE are a cause of Fanconi anemia complementation group E (FANCE) [MIM:[http://omim.org/entry/600901 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.<ref>PMID:11001585</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/FANCE_HUMAN 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.<ref>PMID:12093742</ref><ref>PMID:17296736</ref> | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:017308347</ref><references group="xtra"/> | + | <ref group="xtra">PMID:017308347</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Nookala, R K.]] | [[Category: Nookala, R K.]] | ||
Revision as of 10:11, 24 March 2013
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
- ↑ 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
- ↑ 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
- ↑ 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
