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MGP005376

UniProt Annotations

Entry Information
Gene NameFanconi anemia, complementation group L
Protein EntryFANCL_HUMAN
UniProt IDQ9NW38
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NW38-1; Sequence=Displayed; Name=2; IsoId=Q9NW38-2; Sequence=VSP_041727;
CautionAlthough PubMed:12724401 reports that it contains a PHD- type zinc finger, it contains a RING-type zinc finger. Moreover, PHD-type zinc fingers do not have any ubiquitin ligase activity. {ECO:0000305}.
DiseaseFanconi anemia complementation group L (FANCL) [MIM:614083]: 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. {ECO:0000269|PubMed:12973351}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe UBC-RWD region (URD) region mediates interaction with FANCI and FANCD2. {ECO:0000269|PubMed:21775430}.
FunctionUbiquitin ligase protein that mediates monoubiquitination of FANCD2, 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. {ECO:0000269|PubMed:12973351, ECO:0000269|PubMed:16916645, ECO:0000269|PubMed:17938197, ECO:0000269|PubMed:19111657, ECO:0000269|PubMed:19589784}.
PathwayProtein modification; protein ubiquitination.
PtmThe RING-type zinc finger domain is monoubiquitinated in the presence of UBE2T and UBE2W.
SimilarityContains 1 RING-type zinc finger. {ECO:0000305}.
Subcellular LocationCytoplasm. Nucleus.
SubunitInteracts with GGN (By similarity). Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. In complex with FANCF, FANCA and FANCG, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins. Interacts with FANCI. Interacts (via the RING- type zinc finger) with UBE2T and UBE2W. {ECO:0000250, ECO:0000269|PubMed:12973351, ECO:0000269|PubMed:15502827, ECO:0000269|PubMed:16116422, ECO:0000269|PubMed:16916645, ECO:0000269|PubMed:17938197, ECO:0000269|PubMed:18550849, ECO:0000269|PubMed:19111657, ECO:0000269|PubMed:21775430, ECO:0000269|PubMed:22343915}.
Web ResourceName=Fanconi Anemia Mutation Database; URL="http://www.rockefeller.edu/fanconi/mutate/jumpl.html";
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