Our hosting provider will be undergoing maintenance on Tuesday, August 30 between 8am and 5pm PDT. SciCrunch services may be offline during the maintenance.

Preparing your results

Our searching services are busy right now. Your search will reload in five seconds.

X
Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

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.

Pubmed ID: 17460694

Authors

  • Sims AE
  • Spiteri E
  • Sims RJ
  • Arita AG
  • Lach FP
  • Landers T
  • Wurm M
  • Freund M
  • Neveling K
  • Hanenberg H
  • Auerbach AD
  • Huang TT

Journal

Nature structural & molecular biology

Publication Data

June 5, 2007

Associated Grants

  • Agency: NIGMS NIH HHS, Id: R01 GM084244
  • Agency: NHLBI NIH HHS, Id: R37HL32987

Mesh Terms

  • Amino Acid Sequence
  • Base Sequence
  • Blotting, Western
  • Computational Biology
  • DNA Repair
  • Fanconi Anemia
  • Fanconi Anemia Complementation Group D2 Protein
  • Fanconi Anemia Complementation Group Proteins
  • HeLa Cells
  • Humans
  • Immunoprecipitation
  • Microscopy, Fluorescence
  • Molecular Sequence Data
  • Mutation
  • Sequence Analysis, DNA
  • Ubiquitination