FANCL
Domain
The UBC-RWD region (URD) region mediates interaction with FANCI and FANCD2.
Function
Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway (PubMed:12973351, PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:24389026). Also mediates monoubiquitination of FANCI (PubMed:19589784). May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.
Involvement in disease
Fanconi anemia complementation group L
FANCL
A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein ubiquitination.
Post-translational modifications
The RING-type zinc finger domain is monoubiquitinated in the presence of UBE2T and UBE2W.
Cellular localization
- Cytoplasm
- Nucleus
Alternative names
PHF9, FANCL, E3 ubiquitin-protein ligase FANCL, Fanconi anemia group L protein, Fanconi anemia-associated polypeptide of 43 kDa, RING-type E3 ubiquitin transferase FANCL, FAAP43