InnateDB Protein
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IDBP-293202.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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FANCL
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Protein Name
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Fanconi anemia, complementation group L
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000385021
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InnateDB Gene
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IDBG-52852 (FANCL)
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Protein Structure
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Function |
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. {ECO:0000269PubMed:12973351, ECO:0000269PubMed:16916645, ECO:0000269PubMed:17938197, ECO:0000269PubMed:19111657, ECO:0000269PubMed:19589784}.
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Subcellular Localization |
Cytoplasm. Nucleus.
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Disease Associations |
Fanconi 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:0000269PubMed:12973351}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
43
[view]
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Protein-Protein |
41
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR019162
Fanconi anemia complex, subunit FancL, WD-repeat containing domain
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PFAM |
PF09765
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NW38
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PhosphoSite |
PhosphoSite-Q9NW38
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
55120
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UniGene |
Hs.741421
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RefSeq |
NP_001108108
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HUGO |
HGNC:20748
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OMIM |
608111
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CCDS |
CCDS46294
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HPRD |
06997
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IMGT |
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EMBL |
AC007250
AK001197
BC009042
BC037570
BC054517
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GenPept |
AAH09042
AAH54517
AAY15020
BAA91548
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