E3 ubiquitin-protein ligase FANCL; Fanconi anemia group L protein; Fanconi anemia-associated polypeptide of 43 kD; FAAP43 (FANCL, PHF9)

Function

• ubiquitin ligase
• mediates ubiquitination of FANCD2, a key step in the DNA damage pathway
• may be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth
• protein modification; protein ubiquitination
• interacts with GGN (putative)
• belongs to the multisubunit FA complex

Structure

• contains 1 RING-type Zn+2 finger

Compartment

• cytoplasm, nucleus

Pathology

• defects in FANCL are a cause of Fanconi anemia

More general terms

• E3 ubiquitin ligase
• ring finger protein

Component of

• Fanconi anemia complementation group complex (FA complex)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=55120
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:55120
• OMIM: https://mirror.omim.org/entry/227650
• OMIM: https://mirror.omim.org/entry/608111
• UniProt: http://www.uniprot.org/uniprot/Q9NW38.html