FANCL Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | FANCL |
| Official Name | FA complementation group L [Source:HGNC Symbol;Acc:HGNC:20748] |
| Ensembl ID | ENSG00000115392 |
| Bio databases IDs | |
| Aliases | FA complementation group L |
| Synonyms | 2010322C19Rik, B230118H11Rik, FAAP43, FA complementation group L, Fanconi anaemia, complementation group L, Fanconi anemia, complementation group L, FLJ10335, gcd, PHF9, POG |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FANCL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- RWD, DRWD, and ELF domain family
- FANCL UBC-like domain 2
- FANCL UBC-like domain 1
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- ubiquitin protein ligase activity
- FANCL UBC-like domain 3
- ubiquitin-protein transferase activity
- central domain
- enzyme
- protein binding
- FANCL C-terminal domain
Pathways
Biological processes and signaling networks where the FANCL gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hypertension
- VACTERL
- Fanconi anemia, group L
- Fanconi anemia
- juvenile rheumatoid arthritis
- hereditary disorder
- Fanconi anemia, group A
- nonsyndromic cleft lip and palate
- prostate cancer
- epithelial cancer
role in cell
- proliferation
- cisplatin sensitivity
- number
- DNA damage response
- meiosis
- methyl methanesulfonate sensitivity
- binding in
- transcription in
- cell death
- nicotinamide sensitivity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- intracellular membrane-bounded organelle
- Cytoplasm
- cytosol
- nucleoplasm
- nuclear bodies
- nuclear envelope
- chromatin
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FANCL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- DNA repair
- gamete generation
- response to DNA damage stimulus
- protein monoubiquitination
- regulation of cell proliferation
Cellular Component
Where in the cell the gene product is active
- nuclear envelope
- nucleus
- nuclear body
- Fanconi anaemia nuclear complex
- intracellular membrane-bounded organelle
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ubiquitin-protein ligase activity
- protein binding
- ubiquitin protein ligase binding
- metal ion binding