Fancl Gene Summary [Mouse]

This gene encodes the complementation group L subunit of the multimeric Fanconi anemia (FA) nuclear complex composed of proteins encoded by over ten Fanconi anemia complementation (FANC) group genes. The FA complex is necessary for protection against DNA damage. This gene product, an E3 ubiquitin ligase, catalyzes and is required for the monoubiquitination of the protein encoded by the Fanconi anemia, complementation group D2 gene, a critical step in the FA pathway (PMID: 12973351, 21229326). In mouse, mutations of this E3 ubiquitin ligase gene can lead to infertility in adult males and females, and a deletion of this gene can cause embryonic lethality in some genetic backgrounds. A pseudogene of this gene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

Details

Type
Protein Coding
Official Symbol
Fancl
Official Name
Fanconi anemia, complementation group L [Source:MGI Symbol;Acc:MGI:1914280]
Ensembl ID
ENSMUSG00000004018
Bio databases IDs NCBI: 67030 Ensembl: ENSMUSG00000004018
Aliases Fanconi anemia, 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
Mouse, Mus musculus
OrthologiesHumanRat

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 mouse 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 mouse 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
regulated by
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 mouse 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

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.