InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FANCL

Summary

InnateDB Protein

IDBP-293202.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FANCL

Protein Name

Fanconi anemia, complementation group L

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000385021

InnateDB Gene

IDBG-52852 (FANCL)

Protein Structure

UniProt Annotation

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}.

Subcellular Localization

Cytoplasm. Nucleus.

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.

Tissue Specificity

Comments

Interactions

Number of Interactions

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]
Protein-Protein	41 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004842	ubiquitin-protein transferase activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0016874	ligase activity
GO:0031625	ubiquitin protein ligase binding

Biological Process

GO:0006281	DNA repair
GO:0006513	protein monoubiquitination
GO:0006974	cellular response to DNA damage stimulus
GO:0007276	gamete generation
GO:0042127	regulation of cell proliferation