FANCL
Information FANCL
- Description
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]
- Full Name
FA complementation group L
Source NCBI
- Species
Homo sapiens [tax_id: 9606]
- Genome
hg38
ReMap Statistics
- Datasets
- 1
- Biotypes
- 1
- Peaks
- 5,604
- Non-redundant peaks
- 5,604
TF Classification
- Super Class
- NA
- Class
- NA
- Familly
- NA
- Sub Familly
- NA
Source TFClass
External IDs
- NCBI Gene
- 55120
- Official Gene Name
- FANCL
- JASPAR
- Ensembl
- ENSG00000115392
- UniProt
- Q9NW38
- Genevisible
- Q9NW38
- RefSeq
- NM_001114636
- Aliases
- FAAP43; FLJ10335; Pog