Recombinant Human E3 ubiquitin-protein ligase FANCL (FANCL)

Uniprot Id

Q9NW38

Target Species

Human

Target Name

FANCL

Target Full Name

E3 ubiquitin-protein ligase FANCL

Target Function

Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. 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.

Target Involvement

Fanconi anemia complementation group L (FANCL)

Target Subcellular Location

Cytoplasm. Nucleus.

Target Synonyms

E3 ubiquitin-protein ligase FANCL; FAAP43; Fancl; FANCL_HUMAN; Fanconi anemia complementation group L; Fanconi anemia group L protein; Fanconi anemia-associated polypeptide of 43 kDa; FLJ10335; PHD finger protein 9; PHF9; POG; Ubiquitin ligase protein FANCL

Target Background

This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants.