7ay1

Structural highlights

Disease

FANCI_HUMAN Fanconi anemia. The disease is caused by variants affecting the gene represented in this entry.

Function

FANCI_HUMAN Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA: binds both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage.^{[1] [2] [3] [4] [5]}

See Also

• Thioesterase 3D structures
• WD-repeat protein 3D structures

References

1. ↑ Smogorzewska A, Matsuoka S, Vinciguerra P, McDonald ER 3rd, Hurov KE, Luo J, Ballif BA, Gygi SP, Hofmann K, D'Andrea AD, Elledge SJ. Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair. Cell. 2007 Apr 20;129(2):289-301. doi: 10.1016/j.cell.2007.03.009. Epub 2007 Apr , 5. PMID:17412408 doi:http://dx.doi.org/10.1016/j.cell.2007.03.009
2. ↑ Dorsman JC, Levitus M, Rockx D, Rooimans MA, Oostra AB, Haitjema A, Bakker ST, Steltenpool J, Schuler D, Mohan S, Schindler D, Arwert F, Pals G, Mathew CG, Waisfisz Q, de Winter JP, Joenje H. Identification of the Fanconi anemia complementation group I gene, FANCI. Cell Oncol. 2007;29(3):211-8. PMID:17452773
3. ↑ Sims AE, Spiteri E, Sims RJ 3rd, Arita AG, Lach FP, Landers T, Wurm M, Freund M, Neveling K, Hanenberg H, Auerbach AD, Huang TT. FANCI is a second monoubiquitinated member of the Fanconi anemia pathway. Nat Struct Mol Biol. 2007 Jun;14(6):564-7. Epub 2007 Apr 25. PMID:17460694 doi:http://dx.doi.org/nsmb1252
4. ↑ Alpi AF, Pace PE, Babu MM, Patel KJ. Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI. Mol Cell. 2008 Dec 26;32(6):767-77. doi: 10.1016/j.molcel.2008.12.003. PMID:19111657 doi:http://dx.doi.org/10.1016/j.molcel.2008.12.003
5. ↑ Oka Y, Bekker-Jensen S, Mailand N. Ubiquitin-like protein UBL5 promotes the functional integrity of the Fanconi anemia pathway. EMBO J. 2015 May 12;34(10):1385-98. PMID:25862789 doi:10.15252/embj.201490376
6. ↑ Rennie ML, Arkinson C, Chaugule VK, Toth R, Walden H. Structural basis of FANCD2 deubiquitination by USP1-UAF1. Nat Struct Mol Biol. 2021 Apr;28(4):356-364. doi: 10.1038/s41594-021-00576-8., Epub 2021 Apr 1. PMID:33795880 doi:http://dx.doi.org/10.1038/s41594-021-00576-8