Fancl - Fanconi anemia, complementation group L Gene
Also Known as Pog; gcd; Phf9; 2010322C19Rik; B230118H11Rik
Species: Mus musculus
Summary
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]
Fancl Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001277273.1 | NP_001264202.1 | E3 ubiquitin-protein ligase FANCL isoform 2 |
| NM_025923.3 | NP_080199.1 | E3 ubiquitin-protein ligase FANCL isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
12574169 | MGI |
| enables ubiquitin protein ligase activity |
IDA
IDA: Inferred from direct assay
|
21229326 | MGI |
| enables ubiquitin-protein transferase activity |
IDA
IDA: Inferred from direct assay
|
21229326 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within gamete generation |
IMP
IMP: Inferred from mutant phenotype
|
12417526 | MGI |
| acts upstream of or within regulation of cell population proliferation |
IMP
IMP: Inferred from mutant phenotype
|
12417526 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nuclear envelope |
IPI
IPI: Inferred from physical interaction
|
12574169 | MGI |
| located in nucleus |
IPI
IPI: Inferred from physical interaction
|
12574169 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
E3 ubiquitin-protein ligase FANCL |
|
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