Property Summary

NCBI Gene PubMed Count 41
PubMed Score 275.19
PubTator Score 45.81

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Gene RIF (20)

PMID Text
26385482 Using small interfering RNA (siRNA), knockdown of FANCF, FANCL, or FANCD2 inhibited function of the FA/BRCA pathway in A549, A549/DDP and SK-MES-1 cells, and potentiated sensitivity of the three cells to cisplatin.
25754594 Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association
23783032 a signal transduction pathway involved in self-renewal and survival of hematopoietic stem cells also functions to stabilize FANCL and suggesting that FANCL participates directly in support of stem cell function.
22828653 FAVL elevation can increase the tumorigenic potential of bladder cancer cells, including the invasive potential that confers the development of advanced bladder cancer.
22653977 Suppression of FANCL expression in normal CD34(+) stem and progenitor cells results in fewer beta-catenin active cells and inhibits expansion of multilineage progenitors.
21697891 FA DNA repair genes, FANCD2, FANCL, and FANCC, are transcriptionally upregulated differently in melanoma compared with non-melanoma skin cancer
21543111 genetic diversity in FANCA, FANCC and FANCL does not support an association of these genes with cervical cancer susceptibility in the Swedish population.
21297076 FANCL is associated with acute lung injury in mice
20407210 expression of a novel splice variant of FA complementation group L (FANCL), named FAVL, can impair the FA pathway in non-FA tumor cells and act as a tumor promoting factor
19737859 results rule out a major role of FANCL in familial breast cancer susceptibility
19737859 Observational study of gene-disease association. (HuGE Navigator)
19690177 Observational study of gene-disease association. (HuGE Navigator)
19589784 Upon the occurrence of DNA damage, FANCI becomes monoubiquitinated on Lys-523 by the UBE2T-FANCL pair.
18607065 the first report to describe hypermethylation of FANCC in leukemia
18270339 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
17106252 Abnormal FANCL expression is the cause leading to a defective Ranconi anemia-BRCA pathway, conferring sensitivity of a lung cancer cell line to mitomycin C>
16474167 FANCL, via its WD40 region, binds the FA complex and, via its PHD, recruits an as-yet-unidentified E2 for mono-ubiquitination of FANCD2
12973351 data suggest that PHF9 has a crucial role in the Fanconi anemia pathway as the likely catalytic subunit required for monoubiquitination of FANCD2
12606378 FANCL is necessary for primordial germ cell proliferation during the embryonic stage but not necessary for spermatogonia proliferation in adulthood. Thus, mouse FancL-/- males are infertile at 7 to 12 weeks but gain fertility thereafter.
12417526 Deficiency of Fancl (also called Pog) is the cause of gcd mouse, which has a reduced number of primordial germ cells during the embryonic stage.

AA Sequence

MAVTEASLLRQCPLLLPQNRSKTVYEGFISAQGRDFHLRIVLPEDLQLKNARLLCSWQLRTILSGYHRIV      1 - 70
QQRMQHSPDLMSFMMELKMLLEVALKNRQELYALPPPPQFYSSLIEEIGTLGWDKLVYADTCFSTIKLKA     71 - 140
EDASGREHLITLKLKAKYPAESPDYFVDFPVPFCASWTPQSSLISIYSQFLAAIESLKAFWDVMDEIDEK    141 - 210
TWVLEPEKPPRSATARRIALGNNVSINIEVDPRHPTMLPECFFLGADHVVKPLGIKLSRNIHLWDPENSV    211 - 280
LQNLKDVLEIDFPARAILEKSDFTMDCGICYAYQLDGTIPDQVCDNSQCGQPFHQICLYEWLRGLLTSRQ    281 - 350
SFNIIFGECPYCSKPITLKMSGRKH                                                 351 - 375
//

Text Mined References (42)

PMID Year Title
26385482 2015 RNA interferences targeting the Fanconi anemia/BRCA pathway upstream genes reverse cisplatin resistance in drug-resistant lung cancer cells.
25754594 2015 Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
25416956 2014 A proteome-scale map of the human interactome network.
25087078 2014 Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.
25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.
23783032 2013 The PI3K/Akt1 pathway enhances steady-state levels of FANCL.
23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
22828653 2012 FAVL impairment of the Fanconi anemia pathway promotes the development of human bladder cancer.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22653977 2012 FANCL ubiquitinates ?-catenin and enhances its nuclear function.
22343915 2012 FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway.
22020285 2011 Image-based genome-wide siRNA screen identifies selective autophagy factors.
21775430 2011 Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway.
21697891 2011 Upregulation of Fanconi anemia DNA repair genes in melanoma compared with non-melanoma skin cancer.
21543111 2011 Evaluation of Fanconi anaemia genes FANCA, FANCC and FANCL in cervical cancer susceptibility.
21297076 2011 Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1.
20935630 2010 Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
20407210 2010 FAVL elevation in human tumors disrupts Fanconi anemia pathway signaling and promotes genomic instability and tumor growth.
20347428 2010 A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability.
19737859 2009 Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.
19690177 2009 Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk.
19589784 2009 FANCI binds branched DNA and is monoubiquitinated by UBE2T-FANCL.
19111657 2008 Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI.
18607065 2008 Hypermethylation of the FANCC and FANCL promoter regions in sporadic acute leukaemia.
18550849 2008 HES1 is a novel interactor of the Fanconi anemia core complex.
18270339 2008 Comprehensive analysis of DNA repair gene variants and risk of meningioma.
17938197 2007 UBE2T, the Fanconi anemia core complex, and FANCD2 are recruited independently to chromatin: a basis for the regulation of FANCD2 monoubiquitination.
17106252 2006 Altered expression of FANCL confers mitomycin C sensitivity in Calu-6 lung cancer cells.
16916645 2006 UBE2T is the E2 in the Fanconi anemia pathway and undergoes negative autoregulation.
16474167 2006 The WD40 repeats of FANCL are required for Fanconi anemia core complex assembly.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16116422 2005 A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15502827 2004 X-linked inheritance of Fanconi anemia complementation group B.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12973351 2003 A novel ubiquitin ligase is deficient in Fanconi anemia.
12724401 2003 A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.
12606378 2003 Late onset of spermatogenesis and gain of fertility in POG-deficient mice indicate that POG is not necessary for the proliferation of spermatogonia.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12417526 2002 A novel gene, Pog, is necessary for primordial germ cell proliferation in the mouse and underlies the germ cell deficient mutation, gcd.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.