FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.
Activation of the Fanconi anemia (FA) DNA damage-response pathway results in the monoubiquitination of FANCD2, which is regulated by the nuclear FA core ubiquitin ligase complex. A FANCD2 protein sequence-based homology search facilitated the discovery of FANCI, a second monoubiquitinated component of the FA pathway. Biallelic mutations in the gene coding for this protein were found in cells from four FA patients, including an FA-I reference cell line.
Sims
Ashley E
AE
Department of Biochemistry, New York University School of Medicine, New York, New York 10016, USA.
Spiteri
Elizabeth
E
Sims
Robert J
RJ
Arita
Adriana G
AG
Lach
Francis P
FP
Landers
Thomas
T
Wurm
Melanie
M
Freund
Marcel
M
Neveling
Kornelia
K
Hanenberg
Helmut
H
Auerbach
Arleen D
AD
Huang
Tony T
TT
D000595:Amino Acid Sequence; D001483:Base Sequence; D015153:Blotting, Western; D019295:Computational Biology; D004260:DNA Repair / Q000235:genetics*; D005199:Fanconi Anemia / Q000235:genetics*; D052236:Fanconi Anemia Complementation Group D2 Protein / Q000235:genetics / Q000378:metabolism; D051856:Fanconi Anemia Complementation Group Proteins / Q000235:genetics* / Q000378:metabolism*; D006367:HeLa Cells; D006801:Humans; D047468:Immunoprecipitation; D008856:Microscopy, Fluorescence; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D017422:Sequence Analysis, DNA; D054875:Ubiquitination
C499905:FANCD2 protein, human; C519921:FANCI protein, human; D052236:Fanconi Anemia Complementation Group D2 Protein; D051856:Fanconi Anemia Complementation Group Proteins