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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
General
ring finger protein
E3 ubiquitin ligase; ubiquitin-ligating enzyme E3; N end-recognizing protein
Properties
SIZE: entity length = 375 aa
MW = 43 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: RING-finger {307-365}
EFFECTOR-BOUND: Zn+2
FOR-BINDING-OF: DNA motif
Database Correlations
OMIM correlations
UniProt Q9NW38
Pfam PF09765
Entrez Gene 55120
Kegg hsa:55120
References
- UniProt :accession Q9NW38
- Fanconi Anemia mutation Database
http://www.rockefeller.edu/fanconi/mutate/jumpl.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/FANCL
Component-of
Fanconi anemia complementation group complex (FA complex)