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 |
|---|---|---|---|---|---|
OMIM IDMIM:608111 Ensembl IDEnsembl:ENSG00000115392 HGNC IDHGNC:HGNC:20748 PHARMGKB IDPA134887656 Map Location2p16.1 | |||||
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 |
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
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FANCL
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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