NP_001108108.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
43,430 Da
NCBI Official Full Name
E3 ubiquitin-protein ligase FANCL isoform 1
NCBI Official Synonym Full Names
Fanconi anemia complementation group L
NCBI Protein Information
E3 ubiquitin-protein ligase FANCL
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: Ubiquitin conjugating system; EC 6.3.2.19; EC 6.3.2.-; Ligase; Ubiquitin ligase
Chromosomal Location of Human Ortholog: 2p16.1
Cellular Component: cytoplasm; nuclear envelope; nucleoplasm
Molecular Function: ligase activity; metal ion binding; protein binding; ubiquitin protein ligase binding; ubiquitin-protein ligase activity
Biological Process: DNA repair; gamete generation; positive regulation of defense response to virus by host; protein monoubiquitination; regulation of cell proliferation; response to DNA damage stimulus
Disease: Fanconi Anemia, Complementation Group L; Tracheoesophageal Fistula With Or Without Esophageal Atresia
Research Articles on FANCL
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Products associated with FANCL blocking peptide
Pathways associated with FANCL blocking peptide
Diseases associated with FANCL blocking peptide
Organs/Tissues associated with FANCL blocking peptide
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