Family

E3 ubiquitin-protein ligase FANCL (IPR026848)

Short name: Fancl

Overlapping homologous superfamilies

None.

Family relationships

None.

Description

Fanconi anemia (FA) is a human disorder characterized by cancer susceptibility and cellular sensitivity to DNA crosslinks and other damages. The FA complex repairs the interstrand cross-linking (ICL) lesions and coordinates activities of the downstream DNA repair pathway including nucleotide excision repair, translesion synthesis, and homologous recombination. It is required for the monoubiquitylation of FANCD2 and FANCI heterodimer. The FA core complex consists of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, FANCM, FANCT (UBET2), FAAP100 and FAAP24 [PMID: 29017571, PMID: 20347428].

FANCL is an ubiquitin ligase 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:0036297 interstrand cross-link 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.
PANTHER