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Fanconi anemia group I protein (protein FANCI, FANCI, KIAA1794)
Function:
1) required for maintenance of chromosomal stability
2) role in the repair of DNA double-strand breaks by homologous recombination
3) role in repair of DNA cross-links
4) role in S phase & G2 phase checkpoint activation upon DNA damage
5) promotes FANCD2 ubiquitination & recruitment to DNA repair sites
6) interacts directly with FANCD2
7) phosphorylated in response to DNA damage by ATM &/or ATR
8) monoubiquitinated on Lys-523 during S phase & upon genotoxic stress
9) deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed
10) monoubiquitination requires FA complex
11) 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
General
nuclear protein
phosphoprotein
Properties
SIZE: MW = 149 kD
entity length = 1328 aa
COMPARTMENT: cell nucleus
MOTIF: Ser phosphorylation site {S407}
Ser phosphorylation site {S556}
Ser phosphorylation site {S730}
Thr phosphorylation site {T952}
Ser phosphorylation site {S1121}
Database Correlations
OMIM 227650
UniProt Q9NVI1
References
- UniProt :accession Q9NVI1
- Fanconi Anemia Mutation Database
http://www.rockefeller.edu/fanconi/mutate/