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2iqc
From Proteopedia
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| - | [[Image:2iqc.png|left|200px]] | ||
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{{STRUCTURE_2iqc| PDB=2iqc | SCENE= }} | {{STRUCTURE_2iqc| PDB=2iqc | SCENE= }} | ||
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===Crystal structure of Human FancF Protein that Functions in the Assembly of a DNA Damage Signaling Complex=== | ===Crystal structure of Human FancF Protein that Functions in the Assembly of a DNA Damage Signaling Complex=== | ||
| + | {{ABSTRACT_PUBMED_17082180}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/FANCF_HUMAN FANCF_HUMAN]] Defects in FANCF are the cause of Fanconi anemia complementation group F (FANCF) [MIM:[http://omim.org/entry/603467 603467]]. 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:10615118</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/FANCF_HUMAN FANCF_HUMAN]] DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability (By similarity). | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:017082180</ref><references group="xtra"/> | + | <ref group="xtra">PMID:017082180</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Andrea, A D.]] | [[Category: Andrea, A D.]] | ||
Revision as of 03:30, 25 March 2013
Contents |
Crystal structure of Human FancF Protein that Functions in the Assembly of a DNA Damage Signaling Complex
Template:ABSTRACT PUBMED 17082180
Disease
[FANCF_HUMAN] Defects in FANCF are the cause of Fanconi anemia complementation group F (FANCF) [MIM:603467]. 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
[FANCF_HUMAN] DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability (By similarity).
About this Structure
2iqc is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Kowal P, Gurtan AM, Stuckert P, D'Andrea AD, Ellenberger T. Structural determinants of human FANCF protein that function in the assembly of a DNA damage signaling complex. J Biol Chem. 2007 Jan 19;282(3):2047-55. Epub 2006 Nov 1. PMID:17082180 doi:M608356200
- ↑ de Winter JP, Rooimans MA, van Der Weel L, van Berkel CG, Alon N, Bosnoyan-Collins L, de Groot J, Zhi Y, Waisfisz Q, Pronk JC, Arwert F, Mathew CG, Scheper RJ, Hoatlin ME, Buchwald M, Joenje H. The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. Nat Genet. 2000 Jan;24(1):15-6. PMID:10615118 doi:10.1038/71626
