Affinage

FANCA

Fanconi anemia group A protein · UniProt O15360

Length
1455 aa
Mass
162.8 kDa
Annotated
2026-06-09
100 papers in source corpus 29 papers cited in narrative 29 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 9/9 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

FANCA is a large nuclear protein that serves as a scaffold organizer of the Fanconi anemia (FA) core complex, the assembly required for activating the FA/BRCA interstrand crosslink (ICL) repair pathway (PMID:9789045, PMID:21273304). Through an N-terminal arginine-rich motif (residues 18–29, with Arg1/Arg2/Leu8 critical) FANCA binds FANCG, and the two proteins reciprocally stabilize each other and promote nuclear accumulation of the complex (PMID:10567393, PMID:11050007, PMID:32002546); cryo-EM defines a C-terminal arc-shaped HEAT-repeat solenoid that forms a pseudo-symmetric dimer and engages FANCG at both N- and C-terminal interfaces, with disease mutations at these contacts blocking nuclear import and pathway function (PMID:32002546). FANCA additionally complexes with FANCC and FANCF, and its nuclear localization is necessary and sufficient for correcting mitomycin C hypersensitivity in FA-A cells, distinct from FANCC's separable cytoplasmic role (PMID:9398857, PMID:9746759, PMID:11063725). FAAP20 directly binds and stabilizes FANCA, and its loss reduces FANCD2 monoubiquitination and reproduces FA phenotypes, placing FANCA upstream of the central ICL-repair switch (PMID:22396592). Patient-derived missense and truncation mutations cause FA by preventing nuclear relocation and pathway activation rather than by graded loss of an intrinsic activity, accounting for the absence of genotype–phenotype correlation (PMID:21273304). FANCA is regulated by DNA-damage-induced ATR phosphorylation on Ser1449 and by NEK2 phosphorylation on Thr351 at centrosomes (PMID:19109555, PMID:23806870). Beyond core-complex scaffolding, purified FANCA possesses intrinsic nucleic acid binding (RNA > ssDNA > dsDNA) via its C-terminal domain and directly catalyzes single-strand annealing and strand exchange comparable to RAD52, acting in the single-strand-annealing branch of double-strand break repair independently of the canonical FA pathway, with FANCG stimulating these activities (PMID:22194614, PMID:30057198). FANCA also localizes to centrosomes and pericentriolar material during mitosis, where it maintains centrosomal integrity, spindle assembly, and spindle-assembly-checkpoint function (PMID:23806870, PMID:26366677). It engages additional partners — BRCA1, the SWI/SNF subunit BRG1, alpha-spectrin II, and mu-calpain — linking it to chromatin and to a spectrin scaffold that recruits FANCA to crosslink sites (PMID:10551855, PMID:11726552, PMID:12354784, PMID:20518497).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 1996 Medium

    Establishing FANCA's predicted nuclear identity framed the central question of where and how it acts, since its sequence pointed to a nuclear regulatory rather than enzymatic role.

    Evidence cDNA cloning and sequence analysis revealing bipartite NLS and partial leucine zipper

    PMID:8896563

    Open questions at the time
    • No protein partners identified
    • Function and biochemical activity unknown
  2. 1998 High

    Identifying physical FANCA–FANCC binding and showing FANCA must enter the nucleus and bind FANCC to function converted FA from a set of separate complementation groups into one converging protein pathway.

    Evidence Co-IP, subcellular fractionation, and NLS-mutant complementation in FA-A cells with MMC readout

    PMID:9398857 PMID:9742112

    Open questions at the time
    • Mechanism of how the complex confers crosslink resistance unresolved
    • Downstream effector not defined
  3. 1999 High

    Mapping the FANCA–FANCG interaction to an N-terminal arginine-rich motif and defining a multi-protein nuclear complex (A/C/G) established FANCA as the scaffold whose N-terminus organizes core-complex assembly and nuclear localization.

    Evidence Reciprocal Co-IP, yeast two-hybrid, domain-deletion and site-directed mutagenesis with MMC complementation across FA cell lines

    PMID:10210316 PMID:10373536 PMID:10468606 PMID:10567393 PMID:9746759

    Open questions at the time
    • Catalytic output of the assembled complex unknown
    • How phosphorylation regulates assembly not defined
  4. 2000 High

    Demonstrating reciprocal FANCA–FANCG stabilization and extending the complex to FANCF clarified that FANCA's scaffolding both protects partner half-life and nucleates a larger nuclear assembly.

    Evidence Pulse-chase stability assays, Co-IP, and fractionation in corrected FA-G/FA-A and multiple FA lines

    PMID:11050007 PMID:11063725

    Open questions at the time
    • Direct enzymatic activity of the complex still unidentified
    • Link to a DNA-repair substrate missing
  5. 2001 Medium

    Linking FANCA to alpha-spectrin II, the SWI/SNF subunit BRG1, and crosslinked-DNA binding began to connect the core complex to chromatin and to physical damage sites.

    Evidence Co-IP, co-localization, SWI/SNF purification, DNA affinity chromatography with psoralen-crosslinked DNA, and in vitro kinase assays

    PMID:10551855 PMID:11401546 PMID:11726552 PMID:11739169

    Open questions at the time
    • FANCA not required for in vitro chromatin remodeling — functional role of BRG1 interaction unresolved
    • FANCA-PK kinase identity not established
  6. 2002 High

    Showing a constitutive, damage-independent FANCA–BRCA1 interaction tied the FA core complex to the broader BRCA/homologous-recombination machinery.

    Evidence Yeast two-hybrid and Co-IP with mapped interaction domains (FANCA N-terminus, BRCA1 aa740–1083)

    PMID:12354784

    Open questions at the time
    • Functional consequence of the BRCA1 interaction not defined
    • No structural detail of the interface
  7. 2003 Medium

    Establishing that alpha-spectrin II is required for damage-induced recruitment of FANCA and XPF to nuclear foci provided a mechanism for delivering FANCA to crosslink lesions.

    Evidence Immunofluorescence foci, Co-IP, and FANCA cDNA complementation in FA-A cells

    PMID:12571280

    Open questions at the time
    • Single lab
    • Direct biochemical role of spectrin in recruitment not reconstituted
  8. 2008 High

    Identifying ATR as the kinase phosphorylating FANCA on Ser1449 in response to damage placed FANCA under direct DNA-damage checkpoint control and showed this modification is needed for full function.

    Evidence Mass spectrometry, in vitro ATR kinase assay, ATR-deficient cells, and S1449A complementation

    PMID:19109555

    Open questions at the time
    • How S1449 phosphorylation alters FANCA activity mechanistically unknown
    • Effect on complex assembly not defined
  9. 2010 Medium

    Defining cytoplasmic FANCA functions — stabilizing leukemic NPMc and binding/inhibiting mu-calpain to protect alpha-spectrin — revealed roles separable from nuclear ICL repair.

    Evidence Co-IP, siRNA knockdown, ubiquitination and calpain activity assays, and DNA-repair rescue in FA-A cells

    PMID:20518497 PMID:20864535

    Open questions at the time
    • Single lab for each
    • Physiological significance of NPMc stabilization beyond leukemic cells unclear
  10. 2011 High

    Discovering intrinsic C-terminal nucleic-acid binding (RNA > ssDNA > dsDNA) and showing missense mutations act by blocking nuclear relocation reframed FANCA as a DNA/RNA-engaging protein whose disease alleles share a localization defect.

    Evidence EMSA with purified FANCA and truncation mutants; nuclear-localization and FANCD2 monoubiquitination assays on patient missense mutants

    PMID:21273304 PMID:22194614

    Open questions at the time
    • Functional purpose of nucleic-acid binding not yet defined
    • Whether binding is sequence/structure specific in vivo unknown
  11. 2012 High

    Identifying FAAP20 as a direct FANCA-binding stabilizer whose loss reduces FANCD2 monoubiquitination cemented FANCA's position upstream of the central FA repair switch.

    Evidence Co-IP, somatic knockout cells, FANCD2 monoubiquitination, MMC sensitivity and chromosome breakage assays

    PMID:22396592

    Open questions at the time
    • How FAAP20 binding promotes FANCD2 ubiquitination not mechanistically resolved
  12. 2013 High

    Showing NEK2 phosphorylates FANCA at Thr351 and that FANCA localizes to centrosomes extended its role beyond DNA repair to mitotic and centrosomal integrity.

    Evidence Yeast two-hybrid, Co-IP, in vitro kinase assay, phospho-specific antibody, T351A mutant and shRNA knockdown with nocodazole sensitivity

    PMID:23806870

    Open questions at the time
    • Molecular target of FANCA at centrosomes unknown
    • Relationship between centrosomal and DNA-repair roles unresolved
  13. 2014 Medium

    Genetic and proteomic studies linking FANCA to CXCR5 neddylation and to somatic hypermutation/class switch recombination broadened its functional repertoire into immune-cell genome diversification and receptor trafficking.

    Evidence MS proteomics with neddylation/migration assays; mutation-spectrum and CSR junction analysis in Fanca-/- mouse B cells

    PMID:24799500 PMID:25015289

    Open questions at the time
    • Mechanism linking FANCA to neddylation machinery undefined
    • Single lab for each finding
  14. 2015 Medium

    Localizing FANCA to pericentriolar material at mitotic entry and tying loss to spindle-checkpoint escape established a mitotic surveillance function and sensitization to spindle drugs.

    Evidence Super-resolution microscopy and spindle/checkpoint and chemotherapy-sensitivity assays in primary FANCA-/- and patient cells

    PMID:26366677

    Open questions at the time
    • Single lab
    • Direct spindle/checkpoint substrate of FANCA not identified
  15. 2018 High

    Reconstituting FANCA as a RAD52-comparable single-strand-annealing and strand-exchange enzyme, stimulated by FANCG and impaired by patient mutants, revealed a direct catalytic role in DSB repair independent of the canonical FA pathway.

    Evidence In vitro SA/SE assays with purified FANCA and FANCG, multiple disease mutants, and cell-based DSB pathway assays

    PMID:30057198

    Open questions at the time
    • In vivo contribution of FANCA SSA activity relative to RAD52 not quantified
    • How this activity is coordinated with core-complex function unclear
  16. 2020 High

    The cryo-EM structures of FANCA alone and FANCA–FANCG provided the structural basis for scaffolding and showed how FA-causing mutations at the interfaces abolish nuclear localization and pathway function.

    Evidence Cryo-EM of Xenopus FANCA and FANCA-FANCG with functional mutation analysis

    PMID:32002546

    Open questions at the time
    • No structure of the full FA core complex with FANCA
    • Structural basis of nucleic-acid binding and SA/SE catalysis not resolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • How FANCA's distinct activities — core-complex scaffolding, intrinsic single-strand annealing/strand exchange, nucleic-acid binding, and centrosomal/mitotic roles — are mechanistically integrated and regulated within a single protein remains unresolved.
  • No unifying model connecting catalytic SA/SE activity to scaffold function
  • Functional targets at centrosomes undefined
  • Role of ATR/NEK2 phosphorylation in switching between functions unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 4 GO:0005198 structural molecule activity 3 GO:0003677 DNA binding 2 GO:0003723 RNA binding 1 GO:0140097 catalytic activity, acting on DNA 1
Localization
GO:0005634 nucleus 4 GO:0005815 microtubule organizing center 2 GO:0005829 cytosol 2
Pathway
R-HSA-73894 DNA Repair 3 R-HSA-1640170 Cell Cycle 2
Partners
BRCA1BRG1FAAP20FANCCFANCFFANCGNEK2SPTAN1
Complex memberships
Fanconi anemia core complex

Evidence

Reading pass · 29 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1996 FANCA (FAA) encodes a predicted 162,752 Da protein containing two overlapping bipartite nuclear localization signals and a partial leucine zipper consensus, suggestive of nuclear localization and function. cDNA cloning and sequence analysis (expression cloning) Nature genetics Medium 8896563
1997 FANCA (FAA) and FANCC (FAC) proteins bind each other to form a complex; the complex localizes to both cytoplasm and nucleus, whereas unbound FAA and FAC localize predominantly to the cytoplasm. Co-immunoprecipitation, subcellular fractionation Nature genetics High 9398857
1998 Nuclear localization of FANCA is necessary but not sufficient for its functional activity; FANCA requires binding to FANCC for complementation activity, and mutant FANCA that cannot bind FANCC fails to promote nuclear accumulation of FANCC and is non-functional. Retroviral transduction of NLS-mutant and NLS-swap FANCA constructs into FA-A cells, mitomycin C sensitivity assay, nuclear fractionation Molecular and cellular biology High 9742112
1998 FANCA is phosphorylated in normal lymphoblasts; this phosphorylation, together with FANCA/FANCC complex formation and nuclear accumulation of the complex, is defective in FA cells from multiple complementation groups (A, B, C, E, F, G, H), defining these events as part of a shared FA signaling pathway. Immunoprecipitation, phosphorylation assay, nuclear fractionation in multiple FA complementation group cell lines Proceedings of the National Academy of Sciences of the United States of America High 9789045
1999 FANCA and FANCG form a physical complex both in vivo and in vitro; this complex is detected in non-FA cells and FA-D and FA-E cells, but absent in FA-A and FA-G cells; disruption of the complex correlates with the FA cellular phenotype. Co-immunoprecipitation from cell extracts, in vitro binding assay, cell fusion/transfection correction experiments Proceedings of the National Academy of Sciences of the United States of America High 10468606
1999 FANCA, FANCC, and FANCG interact in a functional nuclear complex; the amino-terminal region of FANCA is required for FANCG binding, FANCC binding, nuclear localization, and functional activity of the complex. Co-immunoprecipitation, nuclear fractionation, domain-deletion analysis, mitomycin C complementation assay Molecular and cellular biology High 10373536
1999 Nuclear localization of FANCA is necessary and sufficient to correct mitomycin C sensitivity in FA-A cells; FANCA with nuclear export signal failed to correct, while FANCA with nuclear localization signal corrected. Separate from FANCC function in the cytoplasm. Nuclear export signal/nuclear localization signal tagging of FANCA, retroviral transduction into FA-A cells, MMC sensitivity assay, subcellular fractionation Blood High 9746759
1999 Alpha spectrin II (alphaSpIISigma*) forms a nuclear complex with FANCA and FANCC; levels of alphaSpIISigma* are significantly reduced in FA-A, FA-B, FA-C, and FA-D cells, suggesting FA proteins are required for stability or expression of alphaSpIISigma*. Co-immunoprecipitation, Western blot, subcellular fractionation The Journal of biological chemistry Medium 10551855
1999 A patient-derived FANCA mutation (H1110P) abolishes FANCA phosphorylation, FANCC binding, nuclear accumulation, and functional complementation of MMC sensitivity. Retroviral transduction of mutant FANCA into FA-A fibroblasts, immunoprecipitation, phosphorylation assay, nuclear fractionation, MMC sensitivity assay Experimental hematology High 10210316
1999 FANCA interaction domain for FANCG maps to amino acids 18–29 of FANCA (arginine-rich motif RRRAWAELLAG); alanine mutagenesis identified Arg1, Arg2, and Leu8 as critical residues. FANCA-FANCG complex formation and nuclear co-localization are required for cellular resistance to MMC. Site-directed mutagenesis, yeast two-hybrid, co-immunoprecipitation, immunofluorescence, MMC sensitivity assay The Journal of biological chemistry High 10567393
2000 FANCG binds directly to the amino-terminal NLS region of FANCA, stabilizes FANCA protein by prolonging its cellular half-life, and promotes nuclear accumulation of the FA protein complex; the reciprocal is also true (FANCA stabilizes FANCG). Carboxy-terminal leucine zipper mutations in FANCA allow cytoplasmic FANCG binding but block nuclear translocation. Retroviral correction of FA-G and FA-A cells, co-immunoprecipitation, pulse-chase protein stability assay, immunofluorescence, nuclear fractionation Blood High 11050007
2000 FANCF forms a nuclear complex with FANCA, FANCC, and FANCG; each FA protein except FANCD is required for these complexes to form. Co-immunoprecipitation, subcellular fractionation in multiple FA complementation group lymphoblasts Human molecular genetics High 11063725
2001 FANCA protein associates with BRG1, a component of the human SWI/SNF chromatin-remodeling complex; FANCA co-localizes with BRG1 in the nucleus and co-purifies with the endogenous SWI/SNF complex. Co-immunoprecipitation, pull-down assay, immunofluorescence co-localization, SWI/SNF complex purification Human molecular genetics Medium 11726552
2001 AlphaSpIISigma*, FANCA, FANCC, and FANCG proteins specifically bind to DNA containing psoralen interstrand cross-links; purified brain spectrin directly binds cross-linked DNA, suggesting alphaSpIISigma* scaffolds FA proteins at damage sites. DNA affinity chromatography with cross-linked DNA substrate, Western blot identification of bound proteins Biochemistry Medium 11401546
2001 A cytoplasmic serine protein kinase (FANCA-PK), sensitive to wortmannin, forms a complex with FANCA and phosphorylates it; this kinase is also present in the FANCA/FANCG complex, suggesting it is a regulatory component of the FA complex. In vitro kinase assay, co-immunoprecipitation, wortmannin inhibitor studies Blood Medium 11739169
2002 BRCA1 directly interacts with FANCA; the interaction involves the amino-terminal portion of FANCA and the central part (aa 740–1083) of BRCA1; the interaction is constitutive and does not require DNA damage. Yeast two-hybrid assay, co-immunoprecipitation from in vitro synthesis, co-immunoprecipitation from cell extracts Human molecular genetics High 12354784
2003 AlphaSpIISigma* is essential for DNA-damage-induced recruitment of FANCA and XPF to nuclear foci following treatment with psoralen/UVA; FA-A cells with decreased alphaSpIISigma* show reduced XPF and alphaSpIISigma* focus formation; correction with FANCA cDNA restores alphaSpIISigma* levels and nuclear focus formation. Immunofluorescence nuclear foci analysis, co-immunoprecipitation, complementation by FANCA cDNA transduction Journal of cell science Medium 12571280
2008 ATR phosphorylates FANCA on serine 1449 in response to DNA damage (not during S phase); ATR-dependent phosphorylation is confirmed both in vivo (ATR-deficient cells lack it) and in vitro (ATR kinase directly phosphorylates FANCA-S1449); the S1449A phospho-deficient mutant fails to fully complement FA-associated phenotypes. Mass spectrometry identification of phosphopeptide, in vitro kinase assay with ATR, phospho-specific analysis in ATR-deficient cells, S1449A mutant complementation assay Blood High 19109555
2011 Purified FANCA protein has intrinsic nucleic acid-binding activity, preferring ssDNA > dsDNA, with RNA binding even stronger; minimum ~30 nucleotides required; a 5'-flap or 5'-tail facilitates binding; the nucleic acid-binding domain localizes primarily to the C-terminus. A patient-derived truncation mutant (Q772X) shows diminished binding, while the C-terminal fragment C772-1455 retains binding activity. Electrophoretic mobility shift assay (EMSA) with purified recombinant FANCA, domain-deletion and truncation mutant analysis The Journal of biological chemistry High 22194614
2012 FAAP20 is a component of the FA core complex that directly interacts with FANCA and stabilizes it; loss of FAAP20 reduces FANCD2 monoubiquitination and causes hallmarks of FA (MMC hypersensitivity, chromosome aberrations). Co-immunoprecipitation, somatic knockout cells, FANCD2 monoubiquitination assay, MMC sensitivity assay, chromosome breakage analysis Proceedings of the National Academy of Sciences of the United States of America High 22396592
2013 FANCA co-immunoprecipitates with NEK2 kinase and localizes to centrosomes (notably during mitosis); NEK2 phosphorylates FANCA at threonine-351 in vitro; the phosphorylation-defective T351A mutant shows centrosomal abnormalities, aberrant mitotic arrest, and enhanced nocodazole sensitivity; FANCA knockdown increases centrosomal abnormality frequency. Yeast two-hybrid screen, co-immunoprecipitation, immunofluorescence localization, in vitro kinase assay, phospho-specific antibody, shRNA knockdown, nocodazole sensitivity assay The international journal of biochemistry & cell biology High 23806870
2014 FANCA modulates neddylation of the chemokine receptor CXCR5; FANCA (but not FANCC) is required for CXCR5 neddylation, which promotes CXCR5 membrane targeting and cell migration/motility. Mass spectrometry proteomics comparison of FA core complex-deficient vs. rescued cells, neddylation assay, membrane targeting analysis, cell migration assay Journal of cell science Medium 25015289
2014 Fanca is required for transition mutations at A/T residues during somatic hypermutation in B cells, and for stabilizing short microhomology duplexes during class switch recombination, thereby impeding short-range recombination downstream of double-strand breaks. Analysis of somatic hypermutation patterns and class switch recombination junctions in Fanca-/- mouse B cells The Journal of experimental medicine Medium 24799500
2015 FANCA shuttles to the pericentriolar material to regulate spindle assembly at mitotic entry; loss of FA signaling renders cells hypersensitive to spindle chemotherapeutics and allows escape from the spindle assembly checkpoint. Super-resolution microscopy, functional spindle assembly assays, chemotherapy sensitivity assays in primary FANCA-/- cells and FA patient cells Experimental hematology Medium 26366677
2018 Purified FANCA protein catalyzes bidirectional single-strand annealing (SA) and strand exchange (SE) at levels comparable to RAD52; FANCG directly interacts with FANCA and stimulates its SA and SE activities; a disease-causing mutant (F1263Δ) and five other patient-derived mutants are deficient in SA and SE; FANCA plays a direct role in the SSA sub-pathway of DSB repair independently of the canonical FA pathway and RAD52. In vitro SA and SE assays with purified FANCA, FANCG stimulation assay, patient mutant biochemical analysis, cell-based DSB repair pathway assay Molecular cell High 30057198
2020 The cryo-EM structure of Xenopus FANCA alone (3.35/3.46 Å) reveals a C-terminal domain (CTD) with an arc-shaped solenoid structure forming a pseudo-symmetric dimer; two cryo-EM structures of FANCA-FANCG complex (4.59/4.84 Å) show FANCG independently contacts either the FANCA C-terminal HEAT repeats or the N-terminal region; mutations disrupting either interaction prevent FANCA nuclear localization and FA pathway function. Cryo-electron microscopy structure determination, functional mutation analysis (nuclear localization assay, FA pathway complementation) Nucleic acids research High 32002546
2010 Cytoplasmic FANCA and FANCC form a cytoplasmic subcomplex that interacts with and stabilizes the leukemic nucleophosmin NPMc; loss of FANCA or FANCC leads to NPMc ubiquitination by IBRDC2 and proteasomal degradation; depletion of FANCA and FANCC in NPMc-positive leukemic cells increases NF-κB activation. Co-immunoprecipitation, siRNA knockdown, retroviral correction, ubiquitination assay, nuclear/cytoplasmic fractionation, patient-derived mutant FANCC analysis The Journal of biological chemistry Medium 20864535
2010 FANCA and FANCG bind directly to mu-calpain; this binding may inhibit mu-calpain activity in normal cells, thereby maintaining stability of alphaIISp; in FA-A cells, increased mu-calpain activity leads to increased alphaIISp breakdown, and siRNA knockdown of mu-calpain in FA-A cells restores alphaIISp levels and corrects DNA interstrand cross-link repair defects and chromosomal instability. Protein interaction studies (Co-IP), siRNA knockdown of mu-calpain, calpain activity assay, DNA repair assay, chromosomal instability analysis Biochemistry Medium 20518497
2011 Missense mutations in FANCA that cause FA lead to altered FANCA protein that is unable to relocate to the nucleus and activate the FA/BRCA pathway, explaining the lack of correlation between FANCA mutation type and cellular or clinical phenotype severity. Functional analysis of patient-derived missense mutants: nuclear localization assay, FANCD2 monoubiquitination assay Blood Medium 21273304

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1996 Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nature genetics 348 8896563
1999 Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex. Molecular and cellular biology 195 10373536
2000 The Fanconi anemia protein FANCF forms a nuclear complex with FANCA, FANCC and FANCG. Human molecular genetics 167 11063725
1997 The Fanconi anaemia proteins, FAA and FAC, interact to form a nuclear complex. Nature genetics 154 9398857
2000 Mice with a targeted disruption of the Fanconi anemia homolog Fanca. Human molecular genetics 152 10915769
1994 Saccharomyces cerevisiae contains four fatty acid activation (FAA) genes: an assessment of their role in regulating protein N-myristoylation and cellular lipid metabolism. The Journal of cell biology 132 7962057
1999 A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA. Proceedings of the National Academy of Sciences of the United States of America 124 10468606
2011 Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations. Blood 108 21273304
2000 The fanconi anemia proteins FANCA and FANCG stabilize each other and promote the nuclear accumulation of the Fanconi anemia complex. Blood 108 11050007
1998 Functional activity of the fanconi anemia protein FAA requires FAC binding and nuclear localization. Molecular and cellular biology 108 9742112
1998 The fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation. Proceedings of the National Academy of Sciences of the United States of America 105 9789045
1997 Sequence variation in the Fanconi anemia gene FAA. Proceedings of the National Academy of Sciences of the United States of America 96 9371798
2000 Complementation analysis in Fanconi anemia: assignment of the reference FA-H patient to group A. American journal of human genetics 95 10936108
2002 BRCA1 interacts directly with the Fanconi anemia protein FANCA. Human molecular genetics 85 12354784
2003 Nonerythroid alphaII spectrin is required for recruitment of FANCA and XPF to nuclear foci induced by DNA interstrand cross-links. Journal of cell science 83 12571280
1999 Human alpha spectrin II and the Fanconi anemia proteins FANCA and FANCC interact to form a nuclear complex. The Journal of biological chemistry 76 10551855
2018 FANCA Promotes DNA Double-Strand Break Repair by Catalyzing Single-Strand Annealing and Strand Exchange. Molecular cell 70 30057198
2012 Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross-link repair. Proceedings of the National Academy of Sciences of the United States of America 70 22396592
2004 A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain. Blood 70 15522956
2008 ATR-dependent phosphorylation of FANCA on serine 1449 after DNA damage is important for FA pathway function. Blood 69 19109555
2001 Human alpha spectrin II and the FANCA, FANCC, and FANCG proteins bind to DNA containing psoralen interstrand cross-links. Biochemistry 67 11401546
2004 Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia. Leukemia 65 14749703
2005 Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study. Human mutation 64 15643609
2001 Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex. Human molecular genetics 64 11726552
2002 Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants. Human molecular genetics 59 12444097
1989 Isolation of the facA (acetyl-coenzyme A synthetase) and acuE (malate synthase) genes of Aspergillus nidulans. Molecular & general genetics : MGG 58 2571070
2019 Rare variants in FANCA induce premature ovarian insufficiency. Human genetics 57 31535215
2021 Knockdown of circ-FANCA alleviates LPS-induced HK2 cell injury via targeting miR-93-5p/OXSR1 axis in septic acute kidney injury. Diabetology & metabolic syndrome 51 33468219
1997 Mutations of the Fanconi anemia group A gene (FAA) in Italian patients. American journal of human genetics 50 9399890
1995 Complementation of Saccharomyces cerevisiae strains containing fatty acid activation gene (FAA) deletions with a mammalian acyl-CoA synthetase. The Journal of biological chemistry 50 7738025
1999 Resistance to mitomycin C requires direct interaction between the Fanconi anemia proteins FANCA and FANCG in the nucleus through an arginine-rich domain. The Journal of biological chemistry 47 10567393
1998 Identification of Alu-mediated deletions in the Fanconi anemia gene FAA. Human mutation 46 9711872
1998 The Fanconi anemia proteins FAA and FAC function in different cellular compartments to protect against cross-linking agent cytotoxicity. Blood 45 9746759
2017 A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. Human mutation 43 29098742
2003 Acquired FANCA dysfunction and cytogenetic instability in adult acute myelogenous leukemia. Blood 43 12637330
2006 Continuous in vivo infusion of interferon-gamma (IFN-gamma) enhances engraftment of syngeneic wild-type cells in Fanca-/- and Fancg-/- mice. Blood 39 16946306
1998 Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions. Genomics 39 9721219
2003 Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations. Journal of human genetics 38 12827451
1997 The genomic organization of the Fanconi anemia group A (FAA) gene. Genomics 37 9169126
2004 Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population. Human mutation 35 15523645
2017 Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. Haematologica 33 29269525
2014 Epigenetic silencing of MicroRNA-503 regulates FANCA expression in non-small cell lung cancer cell. Biochemical and biophysical research communications 32 24486548
2014 Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival. The Journal of investigative dermatology 32 25243787
2004 Chemosensitizing tumor cells by targeting the Fanconi anemia pathway with an adenovirus overexpressing dominant-negative FANCA. Cancer gene therapy 32 15192709
2000 Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients. British journal of haematology 32 11091222
1999 The FANCA gene in Japanese Fanconi anemia: reports of eight novel mutations and analysis of sequence variability. Human mutation 32 10090479
2012 p38 MAPK inhibition suppresses the TLR-hypersensitive phenotype in FANCC- and FANCA-deficient mononuclear phagocytes. Blood 31 22234699
1999 Purification and characterization of fertility-associated antigen (FAA) in bovine seminal fluid. Molecular reproduction and development 30 10471474
2013 FANCA and FANCC modulate TLR and p38 MAPK-dependent expression of IL-1β in macrophages. Blood 29 24046015
2003 Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of the S858R variant. Human mutation 29 12955722
1999 A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation. Experimental hematology 28 10210316
2018 AID and TET2 co-operation modulates FANCA expression by active demethylation in diffuse large B cell lymphoma. Clinical and experimental immunology 27 30357811
2012 Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. Molecular oncology 27 23021409
2008 Rapid lentiviral transduction preserves the engraftment potential of Fanca(-/-) hematopoietic stem cells. Molecular therapy : the journal of the American Society of Gene Therapy 27 18398427
2000 Strong FANCA/FANCG but weak FANCA/FANCC interaction in the yeast 2-hybrid system. Blood 27 10627486
2000 Cloning and characterization of murine fanconi anemia group A gene: Fanca protein is expressed in lymphoid tissues, testis, and ovary. Mammalian genome : official journal of the International Mammalian Genome Society 27 10754110
1999 Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family. British journal of haematology 26 10027724
1999 Inhibition of DT-diaphorase (NAD(P)H:quinone oxidoreductase, EC 1.6.99.2) by 5,6-dimethylxanthenone-4-acetic acid (DMXAA) and flavone-8-acetic acid (FAA): implications for bioreductive drug development. Biochemical pharmacology 26 10423172
2014 Proteomic analysis reveals a FANCA-modulated neddylation pathway involved in CXCR5 membrane targeting and cell mobility. Journal of cell science 25 25015289
1999 A deficiency in a 230 kDa DNA repair protein in fanconi anemia complementation group A cells is corrected by the FANCA cDNA. Carcinogenesis 25 10469633
1995 Wild type p53 and c-myc co-operation in generating apoptosis of a rat hepatocellular carcinoma cell line (FAA-HTC1). Oncogene 24 7566958
2017 A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents. Cold Spring Harbor molecular case studies 23 28864460
2014 Defective endomitosis during megakaryopoiesis leads to thrombocytopenia in Fanca-/- mice. Blood 23 25261197
2011 Fanconi anemia complementation group A (FANCA) protein has intrinsic affinity for nucleic acids with preference for single-stranded forms. The Journal of biological chemistry 23 22194614
2011 Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family. Cancer letters 22 21236561
2013 FANCA and FANCG are the major Fanconi anemia genes in the Korean population. Clinical genetics 20 23067021
2001 Fanconi anemia protein, FANCG, is a phosphoprotein and is upregulated with FANCA after TNF-alpha treatment. Biochemical and biophysical research communications 20 11181053
1999 Expression of the Fanconi anemia group A gene (Fanca) during mouse embryogenesis. Blood 20 10397750
2018 Amelioration of Head and Neck Radiation-Induced Mucositis and Distant Marrow Suppression in Fanca-/- and Fancg-/- Mice by Intraoral Administration of GS-Nitroxide (JP4-039). Radiation research 19 29584588
2016 Genomic amplification of Fanconi anemia complementation group A (FancA) in head and neck squamous cell carcinoma (HNSCC): Cellular mechanisms of radioresistance and clinical relevance. Cancer letters 19 27867017
2015 FANCA safeguards interphase and mitosis during hematopoiesis in vivo. Experimental hematology 19 26366677
2014 Fanca deficiency reduces A/T transitions in somatic hypermutation and alters class switch recombination junctions in mouse B cells. The Journal of experimental medicine 19 24799500
2014 Treatment of FANCA cells with resveratrol and N-acetylcysteine: a comparative study. PloS one 19 25126945
2017 A rare FANCA gene variation as a breast cancer susceptibility allele in an Iranian population. Molecular medicine reports 18 28440412
2013 Changes in vimentin, lamin A/C and mitofilin induce aberrant cell organization in fibroblasts from Fanconi anemia complementation group A (FA-A) patients. Biochimie 18 23831462
2010 Knockdown of mu-calpain in Fanconi anemia, FA-A, cells by siRNA restores alphaII spectrin levels and corrects chromosomal instability and defective DNA interstrand cross-link repair. Biochemistry 17 20518497
1991 Deleterious effects of formalin/acetic acid/alcohol (FAA) fixation on the detection of HPV DNA by in situ hybridization and the polymerase chain reaction. Pathology 17 1664516
2020 Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic FANCA variant. Cold Spring Harbor molecular case studies 16 33172906
2017 Substrate cleavage and duration of action of botulinum neurotoxin type FA ("H, HA"). Toxicon : official journal of the International Society on Toxinology 16 29273248
2011 FANCD2 but not FANCA promotes cellular resistance to type II topoisomerase poisons. Cancer letters 16 21414716
2005 A novel duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer. BMC cancer 16 15860134
2016 FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients. PloS one 15 26799702
2004 Quantitative PCR analysis reveals a high incidence of large intragenic deletions in the FANCA gene in Spanish Fanconi anemia patients. Cytogenetic and genome research 15 15162062
1994 Isolation of the facA (acetyl-CoA synthetase) gene of Phycomyces blakesleeanus. Molecular & general genetics : MGG 15 7914670
1992 Alternatively-spliced p53 mRNA in the FAA-HTC1 rat hepatoma cell line without the splice site mutations. Cell structure and function 15 1295697
1990 Recombinant interleukin-2 (rIL-2) with flavone acetic acid (FAA) in advanced malignant melanoma: a phase II study. British journal of cancer 15 2331447
2022 Mutated FANCA Gene Role in the Modulation of Energy Metabolism and Mitochondrial Dynamics in Head and Neck Squamous Cell Carcinoma. Cells 14 35954197
2013 Fanconi anemia complementation group A (FANCA) localizes to centrosomes and functions in the maintenance of centrosome integrity. The international journal of biochemistry & cell biology 14 23806870
2009 Fanca-/- hematopoietic stem cells demonstrate a mobilization defect which can be overcome by administration of the Rac inhibitor NSC23766. Haematologica 14 19491337
2005 Frequency of Fanconi anemia in Brazil and efficacy of screening for the FANCA 3788-3790del mutation. Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas 14 15917947
1999 Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. Journal of human genetics 14 9929978
1993 Development of a new transformant selection system for Penicillium chrysogenum: isolation and characterization of the P. chrysogenum acetyl-coenzyme A synthetase gene (facA) and its use as a homologous selection marker. Applied microbiology and biotechnology 14 7765289
2022 Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia. Orphanet journal of rare diseases 13 35854323
2020 Structural basis of the fanconi anemia-associated mutations within the FANCA and FANCG complex. Nucleic acids research 13 32002546
2020 A heterozygous hypomorphic mutation of Fanca causes impaired follicle development and subfertility in female mice. Molecular genetics and genomics : MGG 13 33025164
2018 Continuous One Year Oral Administration of the Radiation Mitigator, MMS350, after Total-Body Irradiation, Restores Bone Marrow Stromal Cell Proliferative Capacity and Reduces Senescence in Fanconi Anemia (Fanca-/-) Mice. Radiation research 13 30499383
2014 Unusual splice site mutations disrupt FANCA exon 8 definition. Biochimica et biophysica acta 13 24704046
2010 Cytoplasmic FANCA-FANCC complex interacts and stabilizes the cytoplasm-dislocalized leukemic nucleophosmin protein (NPMc). The Journal of biological chemistry 13 20864535
2008 CXCR4 induction in hematopoietic progenitor cells from Fanca(-/-), -c(-/-), and -d2(-/-) mice. Experimental hematology 13 18279715
2001 A cytoplasmic serine protein kinase binds and may regulate the Fanconi anemia protein FANCA. Blood 13 11739169

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