Fancl - Fanconi anemia, complementation group L Gene

Also Known as Pog; gcd; Phf9; 2010322C19Rik; B230118H11Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 67030

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase FANCL

  • PHD finger protein 9

  • RING-type E3 ubiquitin transferase FANCL

  • fanconi anemia group L protein homolog

  • germ cell deficient

  • proliferation of germ cells protein

Orthologs Information

Species Symbol Source ID
Homo sapiens Fancl NCBI NCBI:55120