Version 5.4
Homo sapiens Gene: FANCL
Summary
InnateDB Gene IDBG-52852.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FANCL
Gene Name Fanconi anemia, complementation group L
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000115392
Encoded Proteins
IDBP-52854
Fanconi anemia, complementation group L
IDBP-293209
Fanconi anemia, complementation group L
IDBP-293202
Fanconi anemia, complementation group L
IDBP-293198
Fanconi anemia, complementation group L
IDBP-376819
Fanconi anemia, complementation group L
IDBP-376820
Fanconi anemia, complementation group L
IDBP-376826
Fanconi anemia, complementation group L
IDBP-376827
Fanconi anemia, complementation group L
IDBP-812715
Fanconi anemia, complementation group L
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:58159243-58241372
Strand Reverse strand
Band p16.1
Transcripts
ENST00000233741 ENSP00000233741
ENST00000403295 ENSP00000386097
ENST00000402135 ENSP00000385021
ENST00000403676 ENSP00000384046
ENST00000449070 ENSP00000401280
ENST00000446381 ENSP00000390991
ENST00000427708 ENSP00000400969
ENST00000417361 ENSP00000389448
ENST00000470506
ENST00000481670 ENSP00000483263
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:0016567 protein ubiquitination
GO:0042127 regulation of cell proliferation
Cellular Component
GO:0005635 nuclear envelope
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0043240 Fanconi anaemia nuclear complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000004018
View Gene Order
ENSBTAG00000005870
Not yet available
Pathways
NETPATH
REACTOME
REACT_18410
Fanconi Anemia pathway pathway
REACT_216
DNA Repair pathway
KEGG
hsa04120
Ubiquitin mediated proteolysis pathway
INOH
PID NCI
fanconi_pathway
Fanconi anemia pathway
bard1pathway
BARD1 signaling events
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.741421
RefSeq NM_001114636 NM_018062
HUGO
OMIM
CCDS CCDS1860 CCDS46294
HPRD 06997
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca