NP_001264202.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
42,527 Da
NCBI Official Full Name
E3 ubiquitin-protein ligase FANCL isoform 2
NCBI Official Synonym Full Names
Fanconi anemia, complementation group L
NCBI Official Synonym Symbols
Pog; gcd; Phf9; AW554273; 2010322C19Rik; B230118H11Rik [Similar Products]
NCBI Protein Information
E3 ubiquitin-protein ligase FANCL; germ cell deficient; PHD finger protein 9; proliferation of germ cells protein; fanconi anemia group L protein homolog
UniProt Protein Name
E3 ubiquitin-protein ligase FANCL
UniProt Synonym Protein Names
Fanconi anemia group L protein homolog; Proliferation of germ cells protein
UniProt Synonym Gene Names
UniProt Entry Name
FANCL_MOUSE
NCBI Summary for FANCL
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]
UniProt Comments for FANCL
FANCL: Ubiquitin ligase protein that mediates monoubiquitination of FANCD2, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth. Defects in FANCL are the cause of Fanconi anemia complementation group L (FANCL). FANCL is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Ubiquitin ligase; Ligase; EC 6.3.2.-; Ubiquitin conjugating system; EC 6.3.2.19
Cellular Component: cytoplasm; nuclear envelope; nucleus
Molecular Function: protein binding; zinc ion binding; coenzyme F420-2 alpha-glutamyl ligase activity; ubiquitin protein ligase binding; metal ion binding; UDP-N-acetylmuramoylalanyl-D-glutamyl-2,6-diaminopimelate-D-alanyl-D-alanine ligase activity; ribosomal S6-glutamic acid ligase activity; ubiquitin-protein ligase activity; coenzyme F420-0 gamma-glutamyl ligase activity; ligase activity
Biological Process: protein monoubiquitination; gamete generation; protein ubiquitination; DNA repair; response to DNA damage stimulus; regulation of cell proliferation
Research Articles on FANCL
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Pathways associated with FANCL elisa kit
Diseases associated with FANCL elisa kit
Organs/Tissues associated with FANCL elisa kit
|