AAH54517.1
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Fanconi anemia, complementation group L
NCBI Official Synonym Full Names
Fanconi anemia, complementation group L
NCBI Protein Information
E3 ubiquitin-protein ligase FANCL; PHD finger protein 9; fanconi anemia group L protein; fanconi anemia-associated polypeptide of 43 kDa
UniProt Protein Name
E3 ubiquitin-protein ligase FANCL
UniProt Synonym Protein Names
Fanconi anemia group L protein; Fanconi anemia-associated polypeptide of 43 kDa; FAAP43
UniProt Synonym Gene Names
UniProt Entry Name
FANCL_HUMAN
NCBI Summary for FANCL
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
UniProt Comments for FANCL
FANCL: Ubiquitin 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. Defects in FANCL are the cause of Fanconi anemia complementation group L (FANCL). FANCL is 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. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 6.3.2.19; Ubiquitin ligase; Ubiquitin conjugating system; Ligase; EC 6.3.2.-
Chromosomal Location of Human Ortholog: 2p16.1
Cellular Component: nucleoplasm; cytoplasm; nuclear envelope
Molecular Function: zinc ion binding; ubiquitin protein ligase binding; ubiquitin-protein ligase activity; ligase activity
Biological Process: protein monoubiquitination; gamete generation; DNA repair; response to DNA damage stimulus; regulation of cell proliferation
Disease: Fanconi Anemia, Complementation Group L; Tracheoesophageal Fistula With Or Without Esophageal Atresia
Research Articles on FANCL
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Products associated with anti-FANCL antibody
Pathways associated with anti-FANCL antibody
Diseases associated with anti-FANCL antibody
Organs/Tissues associated with anti-FANCL antibody
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