Affinage

FANCL

E3 ubiquitin-protein ligase FANCL · UniProt Q9NW38

Length
375 aa
Mass
42.9 kDa
Annotated
2026-04-28
51 papers in source corpus 20 papers cited in narrative 20 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

FANCL is the E3 RING ubiquitin ligase of the Fanconi anemia (FA) core complex that, together with the E2 conjugating enzyme UBE2T, monoubiquitinates FANCD2 and FANCI to activate homologous recombination repair of DNA interstrand crosslinks (PMID:19111657, PMID:16474167). Its three-domain architecture—an N-terminal ELF domain that binds ubiquitin non-covalently and is required for efficient in-cell activity, a central DRWD/URD domain that recognizes the FANCD2–FANCI substrate, and a C-terminal RING domain that selectively engages UBE2T—was defined crystallographically and validated by mutagenesis (PMID:20154706, PMID:24389026, PMID:26149689). Beyond canonical DNA repair, FANCL ubiquitinates β-catenin with non-proteolytic Lys-11 chains to promote Wnt-dependent hematopoietic progenitor expansion (PMID:22653977), and it localizes to mitochondria where it supports Parkin-mediated mitophagy in a ligase-independent manner (PMID:35644338). Loss-of-function mutations in FANCL cause Fanconi anemia with infertility, craniofacial anomalies, hematopoietic stem cell loss, and DNA-damage hypersensitivity, phenotypes rescued by gene correction restoring RING E3 ligase activity (PMID:41259745).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2004 Medium

    Establishing FANCL, not BRCA1, as the E3 ligase for FANCD2 monoubiquitination answered the fundamental question of which ubiquitin ligase drives the FA pathway and showed that the monoubiquitinated form preferentially associates with chromatin.

    Evidence Cell fractionation in FANCL-mutant versus BRCA1-mutant cell lines with evolutionary co-occurrence analysis

    PMID:14712086

    Open questions at the time
    • Single-lab observation without in vitro reconstitution
    • Mechanism of chromatin targeting of monoubiquitinated FANCD2 unresolved
  2. 2006 High

    Domain dissection of FANCL revealed that its WD40-like repeats mediate core complex assembly while the PHD/RING domain is dispensable for complex integrity but essential for E2 recruitment and FANCD2 monoubiquitination, separating scaffolding from catalytic functions.

    Evidence Domain deletions, co-immunoprecipitation, in vitro auto-ubiquitination, and mitomycin C complementation in human cells; confirmed by Drosophila RNAi epistasis

    PMID:16474167 PMID:16860002

    Open questions at the time
    • Structural basis for domain–domain communication unknown at this stage
    • Exact E2 identity used in vivo not yet confirmed
  3. 2007 High

    Demonstrating that FANCL-deficient and FANCD2-monoubiquitination-dead cells show identical quantitative defects in homologous recombination repair placed FANCL squarely in the HR pathway and established epistasis between ligase and substrate.

    Evidence I-SceI HR assay in FANCL-disrupted DT40 cells and FANCD2-K563R knock-in; yeast two-hybrid and co-IP for direct interaction

    PMID:17352736

    Open questions at the time
    • Whether additional substrates beyond FANCD2 contribute to HR function not tested
  4. 2008 High

    In vitro reconstitution with purified FANCL and UBE2T as the minimal machinery sufficient for FANCD2 monoubiquitination, with FANCI restricting modification to the physiological lysine, defined the catalytic core of the FA pathway.

    Evidence Reconstituted ubiquitination with purified components; domain mutagenesis; addition of FANCI for site-specificity

    PMID:19111657

    Open questions at the time
    • How the full FA core complex enhances or regulates FANCL activity in vivo not addressed
  5. 2009 High

    Showing that FANCI is also a direct substrate of UBE2T–FANCL monoubiquitination expanded the catalytic repertoire of FANCL and established the FANCD2–FANCI heterodimer as a dual-monoubiquitination target.

    Evidence In vitro ubiquitination of FANCI-K523 by purified UBE2T and FANCL

    PMID:19589784

    Open questions at the time
    • Functional consequence of FANCI monoubiquitination versus FANCD2 monoubiquitination not dissected
  6. 2010 High

    Crystal structures of full-length FANCL and its central domain revealed a three-domain architecture (ELF, DRWD/URD, RING) fundamentally different from sequence predictions, assigning substrate recognition to the DRWD domain and providing a structural framework for the entire E3 mechanism.

    Evidence X-ray crystallography of Drosophila and human FANCL at 3.2 Å; in vitro binding assays; comparative analysis

    PMID:20154706 PMID:21775430

    Open questions at the time
    • No structure of FANCL bound to the FANCD2–FANCI substrate complex
    • ELF domain function still unclear at this stage
  7. 2010 High

    Zebrafish fancl mutants revealed a role for FANCL in germ cell survival during meiosis via Tp53-dependent apoptosis, linking FA pathway activity to gonadal development and sex determination.

    Evidence Genetic screen; fancl;tp53 double-mutant rescue of female-to-male sex reversal; caspase-3 and gonadal marker assays in zebrafish

    PMID:20661450

    Open questions at the time
    • Whether this germ-cell role involves FANCD2 monoubiquitination or an independent FANCL function not resolved
  8. 2012 Medium

    Discovery that FANCL ubiquitinates β-catenin with atypical Lys-11 chains to enhance Wnt target transcription and hematopoietic progenitor expansion established a non-canonical, non-DNA-repair substrate for the enzyme.

    Evidence Co-immunoprecipitation, in vitro and in vivo ubiquitination, LEF-TCF reporter, siRNA in CD34+ stem/progenitor cells

    PMID:22653977

    Open questions at the time
    • Single-lab finding not independently replicated
    • Whether Lys-11 chain specificity is intrinsic to FANCL or E2-dependent unclear
    • Contribution of this activity to FA pathophysiology not established
  9. 2013 Medium

    Revealing that FANCL itself is constitutively targeted for Lys-48-linked proteasomal degradation, stabilized by Akt1 signaling, connected PI3K/Akt to FANCL protein homeostasis and implied a regulatory layer controlling FA pathway capacity.

    Evidence Proteasome inhibitor treatment, Lys-48 ubiquitin biochemistry, constitutively active Akt overexpression, 2D-PAGE of phospho-isoforms

    PMID:23783032

    Open questions at the time
    • Direct phosphorylation site(s) on FANCL not mapped
    • E3 ligase responsible for FANCL degradation not identified
  10. 2014 High

    The co-crystal structure of the FANCL RING–UBE2T complex revealed specific electrostatic and hydrophobic contacts explaining how FANCL selectively engages UBE2T over other E2 enzymes, completing the structural picture of catalytic specificity.

    Evidence X-ray crystallography; mutagenesis; E2 selectivity assays

    PMID:24389026

    Open questions at the time
    • How E2 selectivity operates in the context of the full FA core complex not tested
  11. 2015 High

    Characterization of the ELF domain's non-covalent ubiquitin-binding function showed it is dispensable for in vitro activity but essential for efficient DNA-damage-induced FANCD2 monoubiquitination in cells, resolving the functional role of this domain.

    Evidence NMR mapping of ubiquitin–ELF interaction; mutagenesis of Ile44 patch; cellular complementation in vertebrate cells

    PMID:26149689

    Open questions at the time
    • Mechanistic basis for why ubiquitin binding by ELF is required in vivo but not in vitro remains speculative
  12. 2020 Medium

    Systematic analysis of 17 URD domain patient variants distinguished destabilizing mutations from catalytic-dead mutations, mapping the C-terminal lobe of the URD domain as critical for both FANCL stability and substrate engagement.

    Evidence Recombinant protein thermal shift assay, in vitro ubiquitination, FANCD2 binding, and cellular ICL sensitivity for each variant

    PMID:32048394 PMID:32420600

    Open questions at the time
    • No structure of variant proteins to explain destabilization mechanisms
    • Genotype–phenotype correlations in patients not systematically studied
  13. 2022 Medium

    Discovery that FANCL localizes to mitochondria and supports Parkin-mediated mitophagy independently of its ubiquitin ligase activity revealed an unexpected non-catalytic role in organelle quality control.

    Evidence CRISPR knockout, subcellular fractionation, mitophagy assay, rescue with wild-type and catalytic-dead C307A mutant FANCL

    PMID:35644338

    Open questions at the time
    • Mechanism by which ligase-dead FANCL promotes mitophagy is unknown
    • Whether this function is relevant to FA patient phenotypes untested
    • Single-lab observation
  14. 2026 High

    A mouse knock-in mimicking a patient RING domain mutation proved that RING E3 ligase activity is the essential function of the FA core complex for development, hematopoiesis, and DNA repair, and that gene correction restores all defects, validating therapeutic editing strategies.

    Evidence FanclTATΔ knock-in mice with full phenotypic characterization; CRISPR-Cas9 and prime editing rescue of FANCD2 monoubiquitination and DNA damage resistance

    PMID:41259745

    Open questions at the time
    • Whether non-catalytic roles of the FA core complex contribute to residual phenotypes not assessed
    • Long-term hematopoietic reconstitution after gene correction not reported

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include the structural basis of FANCL engagement with the FANCD2–FANCI heterodimer in the context of the full FA core complex, the mechanistic basis for ligase-independent mitophagy support, and whether the β-catenin ubiquitination activity is physiologically relevant in FA disease.
  • No structure of FANCL bound to FANCD2–FANCI substrate complex available
  • Ligase-independent mitophagy mechanism completely undefined
  • β-catenin ubiquitination by FANCL not independently replicated or connected to FA pathogenesis

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140096 catalytic activity, acting on a protein 8 GO:0016874 ligase activity 5
Localization
GO:0005634 nucleus 3 GO:0005694 chromosome 1 GO:0005739 mitochondrion 1
Pathway
R-HSA-73894 DNA Repair 5 R-HSA-1643685 Disease 3 R-HSA-162582 Signal Transduction 2 R-HSA-9612973 Autophagy 1
Partners
AXIN1CTNNB1FANCD2FANCIPRKNUBE2TUBE2W
Complex memberships
FA core complex

Evidence

Reading pass · 20 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2008 FANCL (with E2 enzyme Ube2t) is the minimal machinery sufficient to monoubiquitinate FANCD2 in vitro; a conserved RWD-like domain in FANCL stimulates monoubiquitination, and addition of FANCI enhances the reaction and restricts it to the correct in vivo lysine residue on FANCD2. In vitro reconstitution of monoubiquitination with purified Ube2t and FANCL; domain mutagenesis; addition of FANCI to assess site-restriction Molecular cell High 19111657
2004 FANCL, not BRCA1, is the likely E3 ubiquitin ligase responsible for FANCD2 monoubiquitination; monoubiquitinated FANCD2 preferentially associates with chromatin and nuclear matrix, and this association is lost in FANCL-mutant cells. Cell fractionation (chromatin/nuclear matrix vs. soluble fraction) in FANCL-mutant and BRCA1-mutant cell lines; evolutionary co-existence analysis Cell cycle (Georgetown, Tex.) Medium 14712086
2006 The WD40 repeats of FANCL are required for interaction with other FA core complex subunits, while the PHD/RING domain is dispensable for complex assembly but required for FANCD2 monoubiquitination and E2 recruitment; a conserved tryptophan in the PHD domain is critical for E2 binding and FANCD2 monoubiquitination. Domain deletion/mutation analysis, co-immunoprecipitation, in vivo FANCD2 monoubiquitination assay, in vitro auto-ubiquitination assay, mitomycin C resistance complementation The Journal of biological chemistry High 16474167
2010 Crystal structure of FANCL at 3.2 Å reveals three domains: an N-terminal E2-like fold (ELF domain), a novel double-RWD (DRWD) domain responsible for substrate (FANCD2) binding, and a C-terminal RING domain for E2 binding; the architecture is fundamentally different from sequence-based predictions. X-ray crystallography; in vitro binding assays to define domain functions Nature structural & molecular biology High 20154706
2009 FANCI can be monoubiquitinated on Lys-523 by the UBE2T-FANCL pair in vitro, and FANCI binds branched DNA structures preferentially through its C-terminal fragment. In vitro ubiquitination assay with purified UBE2T and FANCL; DNA binding assay with branched versus linear DNA substrates The Journal of biological chemistry High 19589784
2014 Crystal structure of the FANCL RING domain–Ube2T complex reveals an extensive network of specific electrostatic and hydrophobic interactions that determine selective E2 recognition; these specific contacts are required for Ube2T selection over other E2 enzymes by FANCL. X-ray crystallography of FANCL RING–Ube2T complex; mutagenesis to test interaction specificity; E2 selection assays Structure (London, England : 1993) High 24389026
2011 The central UBC-RWD (URD/DRWD) domain of human FANCL is structurally conserved with Drosophila FANCL and is responsible for substrate (FANCD2 and FANCI) binding; specific residues in this domain are required for substrate binding and catalytic function; the RING domain mediates E2 (Ube2T) binding. Crystal structure of central domain of human FANCL; comparative structural analysis with Drosophila FANCL; mutational analysis; in vitro binding assays with FANCD2, FANCI, and Ube2T The Journal of biological chemistry High 21775430
2007 FANCL interacts directly with FANCD2 (via its PHD domain) and is required for FANCD2 monoubiquitination and focus formation in cells; FANCL-deficient and FANCD2-deficient cells show identical quantitative defects in homologous recombination repair of I-SceI-induced chromosomal breaks, establishing FANCL and FANCD2 monoubiquitination in the HR repair pathway. Yeast two-hybrid, co-immunoprecipitation in 293T cells, FANCL-disrupted DT40 cells, I-SceI HR repair assay, knock-in mutation of FANCD2 monoubiquitination site (K563R) Genes to cells : devoted to molecular & cellular mechanisms High 17352736
2006 Drosophila FANCL is required for FANCD2 monoubiquitination in a linear pathway (FANCL upstream of FANCD2), and knockdown of either FANCD2 or FANCL causes specific hypersensitivity to DNA cross-linking agents. RNAi knockdown in Drosophila; cross-linking agent sensitivity assays; genetic epistasis analysis DNA repair Medium 16860002
2010 UBE2W ubiquitin-conjugating enzyme interacts with FANCL through the PHD domain, catalyzes monoubiquitination of the FANCL PHD domain in vitro, and promotes FANCD2 monoubiquitination in cells (specifically UV-induced but not MMC-induced), revealing a regulatory mechanism distinct from UBE2T. In vitro ubiquitination assay; co-immunoprecipitation; domain mapping; siRNA knockdown; overexpression in cells Molecules and cells Medium 21229326
2012 FANCL ubiquitinates β-catenin with atypical Lys-11 ubiquitin chain extensions that have non-proteolytic functions, enhancing β-catenin nuclear activity and transcription of Wnt targets (c-Myc and Cyclin D1); FANCL-deficient cells show diminished β-catenin activation and reduced multilineage progenitor expansion. Co-immunoprecipitation, in vitro and in vivo ubiquitination assays, LEF-TCF reporter assay, siRNA knockdown in CD34+ stem/progenitor cells Blood Medium 22653977
2015 The ELF (E2-like fold) domain of FANCL mediates a non-covalent interaction with ubiquitin via the canonical Ile44 patch on ubiquitin and a functionally conserved patch on FANCL; while not required for in vitro FANCD2 monoubiquitination or E2/core complex interactions, the ELF domain is required for efficient DNA damage-induced FANCD2 monoubiquitination in vertebrate cells. NMR and binding assays to map ubiquitin–ELF interaction; mutagenesis of interaction surface; in vitro ubiquitination assay; cellular complementation assay in vertebrate cells The Journal of biological chemistry High 26149689
2013 FANCL is constitutively targeted for proteasomal degradation via Lys-48-linked polyubiquitination; the ELF domain may direct this ubiquitination; FANCL is stabilized by Akt1 activation (which reduces FANCL polyubiquitination) and by complex formation with axin1 when GSK-3β is overexpressed, linking PI3K/Akt signaling to FANCL protein stability. Proteasome inhibitor treatment, Lys-48 ubiquitin chain biochemistry, N-terminal deletion mutagenesis, constitutively active Akt overexpression, 2D-PAGE of phospho-FANCL isoforms Molecular biology of the cell Medium 23783032
2017 Arsenite (As3+) binds directly to the PHD/RING finger domain of FANCL in vitro and in cells, inhibiting FANCD2 ubiquitination and chromatin recruitment, and sensitizing cells to DNA interstrand cross-linking agents. In vitro binding assay, cellular FANCD2 monoubiquitination assay, chromatin fractionation, immunofluorescence for FANCD2 foci, clonogenic survival assay ACS chemical biology Medium 28535027
2019 A high-throughput screen identified a small-molecule inhibitor of UBE2T/FANCL-mediated FANCD2 monoubiquitylation that sensitizes cancer cells to the DNA cross-linking agent carboplatin. High-throughput biochemical screen, in vitro ubiquitylation assay, cellular sensitization assay with carboplatin ACS chemical biology Medium 31525021
2010 In zebrafish, fancl is expressed in developing germ cells during sex determination; fancl mutation causes Tp53-mediated germ cell apoptosis, loss of oocytes through meiosis, and consequent female-to-male sex reversal; introduction of a tp53 mutation into fancl mutants rescues sex reversal by reducing germ cell apoptosis. Genetic screen, caspase-3 immunoassay, in situ hybridization for gonadal markers, double-mutant (fancl;tp53) epistasis analysis PLoS genetics High 20661450
2020 Two frameshift mutations in FANCL found in POI patients cause cytoplasmic retention of FANCL protein (normally nuclear), impaired ubiquitin-ligase activity, and compromised DNA repair after mitomycin C treatment, demonstrating haploinsufficiency for ovarian function. Subcellular localization by fluorescence microscopy, in vitro ubiquitination assay, DNA repair assay (mitomycin C sensitivity), protein expression analysis Human mutation Medium 32048394
2022 FANCL protein localizes to mitochondria under basal and mitochondrial stress conditions; FANCL knockout sensitizes cells to mitochondrial stress and impairs Parkin-mediated mitophagy; re-expression of either wild-type FANCL or a ubiquitin-ligase-dead mutant (C307A) rescues this defect, indicating FANCL supports mitophagy in a ubiquitin ligase-independent manner. CRISPR/Cas9 knockout, subcellular fractionation/mitochondrial localization, mitophagy assay (Parkin overexpression + OA treatment), rescue with wild-type and catalytic mutant FANCL Biochimica et biophysica acta. Molecular basis of disease Medium 35644338
2026 A murine allele mimicking a patient FA mutation (FanclTATΔ, 3-bp deletion removing the catalytic cysteine in the RING domain) retains FA core complex structural integrity but lacks FANCD2 monoubiquitination activity; homozygous mice develop classical FA features (infertility, craniofacial anomalies, DNA damage hypersensitivity, HSC loss); CRISPR-Cas9 or prime editing to correct the mutation restores FANCD2 monoubiquitination and DNA damage resistance, demonstrating that RING E3 ligase activity of the FA core complex is the essential function explaining FA developmental and hematopoietic phenotypes. Mouse knock-in model (FanclTATΔ), biochemical FANCD2 monoubiquitination assay, structural integrity analysis, phenotypic characterization, CRISPR-Cas9 and prime editing correction Blood advances High 41259745
2020 Biochemical and structural analysis of 17 FANCL URD domain variants (from cancer patients and FA patients) reveals that the C-terminal lobe of the URD domain is critical for FANCL activity; specific mutations (I136V, L154S, W212A, L214A, R221W, R221C, V287G) destabilize FANCL, while others (E217K, T224K, M247V and the hydrophobic patch) cause catalytic defects in FANCD2 ubiquitination without gross destabilization. Recombinant protein expression, thermal shift assay, in vitro ubiquitination assay, FANCD2 binding assay, cellular ICL-agent sensitivity assay Bioscience reports Medium 32420600

Source papers

Stage 0 corpus · 51 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2006 A prospective study of the natural history of transient leukemia (TL) in neonates with Down syndrome (DS): Children's Oncology Group (COG) study POG-9481. Blood 197 16469874
2010 Sex reversal in zebrafish fancl mutants is caused by Tp53-mediated germ cell apoptosis. PLoS genetics 169 20661450
2008 Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI. Molecular cell 158 19111657
2011 Effectiveness of high-dose methotrexate in T-cell lymphoblastic leukemia and advanced-stage lymphoblastic lymphoma: a randomized study by the Children's Oncology Group (POG 9404). Blood 135 21474675
2002 A novel gene, Pog, is necessary for primordial germ cell proliferation in the mouse and underlies the germ cell deficient mutation, gcd. Human molecular genetics 105 12417526
2004 FANCL replaces BRCA1 as the likely ubiquitin ligase responsible for FANCD2 monoubiquitination. Cell cycle (Georgetown, Tex.) 80 14712086
2009 FANCI binds branched DNA and is monoubiquitinated by UBE2T-FANCL. The Journal of biological chemistry 72 19589784
2014 Structure of the human FANCL RING-Ube2T complex reveals determinants of cognate E3-E2 selection. Structure (London, England : 1993) 66 24389026
2008 Outcomes of the POG 9340/9341/9342 trials for children with high-risk neuroblastoma: a report from the Children's Oncology Group. Pediatric blood & cancer 63 18704922
2010 The structure of the catalytic subunit FANCL of the Fanconi anemia core complex. Nature structural & molecular biology 59 20154706
1997 Therapeutic trial for infant acute lymphoblastic leukemia: the Pediatric Oncology Group experience (POG 8493). Journal of pediatric hematology/oncology 45 9065717
2006 The WD40 repeats of FANCL are required for Fanconi anemia core complex assembly. The Journal of biological chemistry 43 16474167
2011 Structural analysis of human FANCL, the E3 ligase in the Fanconi anemia pathway. The Journal of biological chemistry 41 21775430
2020 FANCL gene mutations in premature ovarian insufficiency. Human mutation 39 32048394
2001 The effect of cisplatin dose and surgical resection in children with malignant germ cell tumors at the sacrococcygeal region: a pediatric intergroup trial (POG 9049/CCG 8882). Journal of pediatric surgery 39 11150431
2003 Mouse GGN1 and GGN3, two germ cell-specific proteins from the single gene Ggn, interact with mouse POG and play a role in spermatogenesis. The Journal of biological chemistry 34 12574169
2003 Late onset of spermatogenesis and gain of fertility in POG-deficient mice indicate that POG is not necessary for the proliferation of spermatogonia. Biology of reproduction 33 12606378
2008 Hypermethylation of the FANCC and FANCL promoter regions in sporadic acute leukaemia. Cellular oncology : the official journal of the International Society for Cellular Oncology 32 18607065
2012 FANCL ubiquitinates β-catenin and enhances its nuclear function. Blood 31 22653977
2006 Drosophila homologs of FANCD2 and FANCL function in DNA repair. DNA repair 31 16860002
2007 A requirement of FancL and FancD2 monoubiquitination in DNA repair. Genes to cells : devoted to molecular & cellular mechanisms 29 17352736
2019 Small-Molecule Inhibition of UBE2T/FANCL-Mediated Ubiquitylation in the Fanconi Anemia Pathway. ACS chemical biology 28 31525021
2015 Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. Human mutation 28 25754594
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. Carcinogenesis 28 19737859
2010 UBE2W interacts with FANCL and regulates the monoubiquitination of Fanconi anemia protein FANCD2. Molecules and cells 26 21229326
2006 Altered expression of FANCL confers mitomycin C sensitivity in Calu-6 lung cancer cells. Cancer biology & therapy 26 17106252
2015 The Fanconi Anemia DNA Repair Pathway Is Regulated by an Interaction between Ubiquitin and the E2-like Fold Domain of FANCL. The Journal of biological chemistry 25 26149689
2009 Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. Human mutation 24 19405097
2017 Arsenite Binds to the RING Finger Domain of FANCL E3 Ubiquitin Ligase and Inhibits DNA Interstrand Crosslink Repair. ACS chemical biology 22 28535027
2003 Phase 2 study of idarubicin in pediatric brain tumors: Pediatric Oncology Group study POG 9237. Neuro-oncology 21 14565163
2006 Antimetabolite-based therapy in childhood T-cell acute lymphoblastic leukemia: a report of POG study 9296. Pediatric blood & cancer 17 16007607
1994 A new monoclonal antibody (POG-1) detects a differentiation antigen of porcine granulosa and thecal cells and indicates heterogeneity of thecal-stromal cells. Endocrinology 14 8119152
1994 Presenting characteristics of trisomy 8 as the primary cytogenetic abnormality associated with childhood acute lymphoblastic leukemia. A Pediatric Oncology Group (POG) Study (8600/8493). Cancer genetics and cytogenetics 12 8039165
2011 Evaluation of Fanconi anaemia genes FANCA, FANCC and FANCL in cervical cancer susceptibility. Gynecologic oncology 11 21543111
2022 FANCL supports Parkin-mediated mitophagy in a ubiquitin ligase-independent manner. Biochimica et biophysica acta. Molecular basis of disease 10 35644338
2019 A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India. Human mutation 10 31513304
2013 The PI3K/Akt1 pathway enhances steady-state levels of FANCL. Molecular biology of the cell 9 23783032
2012 Switch of FANCL, a key FA-BRCA component, between tumor suppressor and promoter by alternative splicing. Cell cycle (Georgetown, Tex.) 9 22918243
2020 Characterization of FANCL variants observed in patient cancer cells. Bioscience reports 8 32420600
2017 Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia. European journal of medical genetics 8 28419882
2013 Treatment of relapsed precursor-B acute lymphoblastic leukemia with intensive chemotherapy: POG (Pediatric Oncology Group) study 9411 (SIMAL 9). Journal of pediatric hematology/oncology 8 23887024
2021 Quantitative Proteomics Reveals a Novel Role of the E3 Ubiquitin-Protein Ligase FANCL in the Activation of the Innate Immune Response through Regulation of TBK1 Phosphorylation during Peste des Petits Ruminants Virus Infection. Journal of proteome research 7 34289691
2025 Deficient FANCL Predisposes to Endothelial Damage: A New Therapeutic Target for Pulmonary Hypertension. American journal of respiratory and critical care medicine 3 40479584
2020 Poly(POG)n loaded with recombinant human bone morphogenetic protein-2 accelerates new bone formation in a critical-sized bone defect mouse model. Journal of orthopaedic surgery and research 3 33054796
2005 [Functions of FANCL in primordial germ cell formation and Fanconi anemia]. Yi chuan xue bao = Acta genetica Sinica 3 16201245
2012 No evidence for translation of pog, a predicted overlapping gene of Solenopsis invicta virus 1. Virus genes 2 22528643
1996 Monoclonal antibody PHF-9 recognizes phosphorylated serine 404 of tau protein and labels paired helical filaments. Journal of neuroscience research 2 8892109
2026 Fancl-mutant mice reveal central role of monoubiquitination in Fanconi anemia and a model for therapeutic gene editing. Blood advances 0 41259745
2025 Piperine Targets the FANCL/UBE2T Complex to Inhibit the FA Pathway and Sensitize Bladder Cancer to Cisplatin. Dose-response : a publication of International Hormesis Society 0 41306722
2025 Ginsenoside Rh2 Suppresses the Fanconi Anemia Pathway by Inhibiting NF-κB-Mediated FANCL Transcription in Bladder Cancer. Dose-response : a publication of International Hormesis Society 0 41425456
2023 An acquired BMF with FANCL gene heterozygous mutation: Case report. Medicine 0 37327301