E3 ubiquitin-protein ligase FANCL (IPR026848)

Short name: Fancl

Overlapping homologous superfamilies


Family relationships



E3 ubiquitin-protein ligase FANCL belongs to the multisubunit FA complex. It is an ubiquitin ligase protein that mediates monoubiquitination of FANCD2, a key step in the repair of interstrand DNA crosslinks (ICLs) in the Fanconi anemia (FA) pathway [PMID: 17938197, PMID: 22287633]. In humans, defects in FANCL are the cause of Fanconi anemia complementation group L (FANCL). FANCL is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair [PMID: 12973351, PMID: 15502827].

GO terms

Biological Process

GO:0006281 DNA repair

Molecular Function

GO:0004842 ubiquitin-protein transferase activity

Cellular Component

GO:0043240 Fanconi anaemia nuclear complex

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.