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Fanconi anemia, complementation group I

FANCI, Fanconi anemia complementation group I
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] (from NCBI)
Papers on FANCI
The E3 ubiquitin ligase RAD18 regulates ubiquitylation and chromatin loading of FANCD2 and FANCI.
GeneRIF
Kupfer et al., New Haven, United States. In Blood, 2011
These data suggest a key role for the E3 ligase activity of RAD18 in the recruitment of FANCD2 and FANCI to chromatin and the events leading to their ubiquitylation during S phase.
Patient-derived C-terminal mutation of FANCI causes protein mislocalization and reveals putative EDGE motif function in DNA repair.
GeneRIF
Huang et al., New York City, United States. In Blood, 2011
although proper nuclear localization of FANCI is crucial for robust FANCD2 monoubiquitination, the putative FANCI EDGE motif is important for DNA crosslink repair
FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair.
Impact
GeneRIF
Huang et al., Hangzhou, China. In Science, 2010
study characterizes FANI which promotes DNA interstrand cross-linking repair in a manner strictly dependent on its ability to accumulate at or near sites of DNA damage and that relies on mono-ubiquitylation of the FANCI-FANCD2 complex
Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.
GeneRIF
Benítez et al., Madrid, Spain. In Carcinogenesis, 2009
results rule out a major role of FANCI in familial breast cancer susceptibility
FANCI binds branched DNA and is monoubiquitinated by UBE2T-FANCL.
GeneRIF
Sung et al., New Haven, United States. In J Biol Chem, 2009
Upon the occurrence of DNA damage, FANCI becomes monoubiquitinated on Lys-523 by the UBE2T-FANCL pair.
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