Fanconi anemia group I protein (protein FANCI, FANCI, KIAA1794)

Function

• required for maintenance of chromosomal stability
• role in the repair of DNA double-strand breaks by homologous recombination
• role in repair of DNA cross-links
• role in S phase & G2 phase checkpoint activation upon DNA damage
• promotes FANCD2 ubiquitination & recruitment to DNA repair sites
• interacts directly with FANCD2
• phosphorylated in response to DNA damage by ATM &/or ATR
• monoubiquitinated on Lys-523 during S phase & upon genotoxic stress
• deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed
• monoubiquitination requires FA complex
• ubiquitination is required for binding to chromatin, DNA repair, & normal cell cycle progression

Structure

• C-terminal 30 residues are probably required for function in DNA repair

Alternative splicing

named isoforms=3

Pathology

• defects in FANCI are a cause of Fanconi anemia

More general terms

• phosphoprotein
• nuclear protein

Database

• OMIM: https://mirror.omim.org/entry/227650
• UniProt: http://www.uniprot.org/uniprot/Q9NVI1.html