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MGP005376

Record overview

MGPD IDMGP005376
Gene ID55120
SpeciesHomo sapiens (Human)
Gene NameFanconi anemia, complementation group L
Gene Symbol FANCL
SynonymsPOG; PHF9; FAAP43;
Alternate namesE3 ubiquitin-protein ligase FANCL; PHD finger protein 9; fanconi anemia group L protein; fanconi anemia-associated polypeptide of 43 kDa;
Chromosome2
Map Location2p16.1
EC Number6.3.2.-
SummaryThe Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group L. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for FANCL

Proteins

E3 ubiquitin-protein ligase FANCL isoform 1
Refseq ID:NP_001108108
Protein GI:167860138
UniProt ID:Q9NW38
mRNA ID:NM_001114636
Length:380
RefSeq Status:
MAVTEASLLRQCPLLLPQNRSKTVYEGFISAQGRDFHLRIVLPEDLQLKNARLLCSWQLRTILSGYHRIVQQRMQHSPDLMSFMMELKMLLEVALKNRQE
LYALPPPPQFYSSLIEEIGTLGWDKLVYADTCFSTIKLKAEDASGREHLITLKLKAKYPAESPDYFVDFPVPFCASWTPQVNSPQSSLISIYSQFLAAIE
SLKAFWDVMDEIDEKTWVLEPEKPPRSATARRIALGNNVSINIEVDPRHPTMLPECFFLGADHVVKPLGIKLSRNIHLWDPENSVLQNLKDVLEIDFPAR
AILEKSDFTMDCGICYAYQLDGTIPDQVCDNSQCGQPFHQICLYEWLRGLLTSRQSFNIIFGECPYCSKPITLKMSGRKH
 
E3 ubiquitin-protein ligase FANCL isoform 2
Refseq ID:NP_060532
Protein GI:49472819
UniProt ID:Q9NW38
mRNA ID:NM_018062
Length:375
RefSeq Status:
MAVTEASLLRQCPLLLPQNRSKTVYEGFISAQGRDFHLRIVLPEDLQLKNARLLCSWQLRTILSGYHRIVQQRMQHSPDLMSFMMELKMLLEVALKNRQE
LYALPPPPQFYSSLIEEIGTLGWDKLVYADTCFSTIKLKAEDASGREHLITLKLKAKYPAESPDYFVDFPVPFCASWTPQSSLISIYSQFLAAIESLKAF
WDVMDEIDEKTWVLEPEKPPRSATARRIALGNNVSINIEVDPRHPTMLPECFFLGADHVVKPLGIKLSRNIHLWDPENSVLQNLKDVLEIDFPARAILEK
SDFTMDCGICYAYQLDGTIPDQVCDNSQCGQPFHQICLYEWLRGLLTSRQSFNIIFGECPYCSKPITLKMSGRKH
 
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