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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| FA complementation group L | MIM:608111 | Ensembl:ENSG00000115392 | HGNC:HGNC:20748 | PA134887656 | 2p16.1 |
GO terms in FANCL
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0004842 | ubiquitin-protein transferase activity |
| MF | ISS | GO:0004842 | ubiquitin-protein transferase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0031625 | ubiquitin protein ligase binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IDA | GO:0061630 | ubiquitin protein ligase activity |
| BP | IMP | GO:0006281 | DNA repair |
| BP | IDA | GO:0006513 | protein monoubiquitination |
| BP | IMP | GO:0006974 | cellular response to DNA damage stimulus |
| BP | IEA | GO:0007276 | gamete generation |
| BP | TAS | GO:0036297 | interstrand cross-link repair |
| BP | IEA | GO:0042127 | regulation of cell proliferation |
| CC | IEA | GO:0005635 | nuclear envelope |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0016604 | nuclear body |
| CC | IDA | GO:0043231 | intracellular membrane-bounded organelle |
| CC | IDA | GO:0043240 | Fanconi anaemia nuclear complex |
Gene expression in normal tissue: FANCL
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FANCL
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa03460 | Fanconi anemia pathway - Homo sapiens (human) |
| kegg | hsa04120 | Ubiquitin mediated proteolysis - Homo sapiens (human) |
| pid | bard1pathway | BARD1 signaling events |
| pid | fanconi_pathway | Fanconi anemia pathway |
| reactome | R-HSA-6783310 | Fanconi Anemia Pathway |
| reactome | R-HSA-73894 | DNA Repair |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD79 | Gemcitabine | 3 |
| iGMDRD187 | BRD9876 | 1 |
| iGMDRD171 | Pemetrexed | 3 |
| iGMDRD289 | Parthenolide | 3 |
| iGMDRD599 | Salermide | 1 |
| iGMDRD512 | nutlin 3 | 3 |
| iGMDRD121 | GMX1778 | 3 |
| iGMDRD61 | Kinetin riboside | 2 |
| iGMDRD152 | 179324-69-7 | 6 |
| iGMDRD57 | Chloropentafluorobenzene | 6 |
| iGMDRD100 | Zebularine | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FANCL
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