FANCL


Summary: This gene encodes a ubiquitin ligase that is a member of the Fanconi anemia complementation group (FANC). Members of this group are related by their assembly into a common nuclear protein complex rather than by sequence similarity. This gene encodes the protein for complementation group L that mediates monoubiquitination of FANCD2 as well as FANCI. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2018].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
FA complementation group LMIM:608111Ensembl:ENSG00000115392HGNC:HGNC:20748PA1348876562p16.1

GO terms in FANCL


Term TypeEvidence TypeGO Term IDGO Des.
MFIDAGO:0004842ubiquitin-protein transferase activity
MFISSGO:0004842ubiquitin-protein transferase activity
MFIPIGO:0005515protein binding
MFIPIGO:0031625ubiquitin protein ligase binding
MFIEAGO:0046872metal ion binding
MFIDAGO:0061630ubiquitin protein ligase activity
BPIMPGO:0006281DNA repair
BPIDAGO:0006513protein monoubiquitination
BPIMPGO:0006974cellular response to DNA damage stimulus
BPIEAGO:0007276gamete generation
BPTASGO:0036297interstrand cross-link repair
BPIEAGO:0042127regulation of cell proliferation
CCIEAGO:0005635nuclear envelope
CCTASGO:0005654nucleoplasm
CCIEAGO:0005737cytoplasm
CCIDAGO:0016604nuclear body
CCIDAGO:0043231intracellular membrane-bounded organelle
CCIDAGO:0043240Fanconi anaemia nuclear complex

Gene expression in normal tissue: FANCL

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in FANCL


DatabasePathway IDPathway Des.
kegghsa03460Fanconi anemia pathway - Homo sapiens (human)
kegghsa04120Ubiquitin mediated proteolysis - Homo sapiens (human)
pidbard1pathwayBARD1 signaling events
pidfanconi_pathwayFanconi anemia pathway
reactomeR-HSA-6783310Fanconi Anemia Pathway
reactomeR-HSA-73894DNA Repair

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD79Gemcitabine3
iGMDRD187BRD98761
iGMDRD171Pemetrexed3
iGMDRD289Parthenolide3
iGMDRD599Salermide1
iGMDRD512nutlin 33
iGMDRD121GMX17783
iGMDRD61Kinetin riboside2
iGMDRD152179324-69-76
iGMDRD57Chloropentafluorobenzene6
iGMDRD100Zebularine1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in FANCL

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