Phospho-FANCA (S1149) Antibody

1. Mutations in the FANCA gene are associated with esophageal atresia and tracheoesophageal fistula in humans. PMID: 29621589
2. the current study was the first to report a promoter region variation in the FANCA gene among women with breast cancer in Iran. The results of the present study confirmed the allelic variants in the FANCA promoter region as a tumor suppressor gene. PMID: 28440412
3. we show that although FANCA S1088F protein properly localizes to the nucleus, it alters FANC complex function, enhances sensitivity to DNA damaging agents, and sensitizes cells to PARP inhibitors in vitro and in vivo. PMID: 28864460
4. FancA amplification and overexpression appear to be crucial for radiotherapeutic failure in head and neck squamous cell carcinomas. PMID: 27867017
5. High resolution melting curve analysis was used to screen FANCA, and LinReg software version 1.7 was utilized for analysis of expression. RESULTS: In total, six sequence alterations were identified, which included two stop codons, two frames-shift mutations, one large deletion and one amino acid exchange. FANCA expression was downregulated in patients who had sequence alterations. PMID: 27121516
6. Results identified homozygous mutations in FANCA and FANCP/SLX4 genes, both located on chromosome 16, were the affected recessive FA genes in three and one family respectively. Genotyping with short tandem repeat markers and SNP arrays revealed uniparental disomy of the entire mutation-carrying chromosome 16 in all four patients. PMID: 26841305
7. Using human and murine cells defective in FANCD2 or FANCA and primary bone marrow cells derived from FANCD2 deficient mice, we show that the FA pathway removes R loops and that many DNA breaks accumulated in FA cells are R loop-dependent. PMID: 26584049
8. FANCA safeguards interphase and mitosis during hematopoiesis PMID: 26366677
9. The I939S point mutation prevented binding to the FAAP20 subunit of the FA core complex, caused SUMOylation at K921, RNF4-mediated polyubiquitination and degradation. PMID: 25751062
10. A frameshifting mutation and a truncating mutation of FANCA are associated with Fanconi anemia. PMID: 25863087
11. Proliferation is compromised in FANCA-deficient pluripotent embryonic stem cells. PMID: 25108529
12. FANCA-modulated neddylation pathway involved in CXCR5 membrane targeting and cell mobility. PMID: 25015289
13. BRCA2 rs10492396 (AG vs. GG: adjusted hazard ratio (adjHR)=1.85, 95% confidence interval (CI)=1.16-2.95, P=0.010), rs206118 (CC vs. TT+TC: adjHR=2.44, 95% CI=1.27-4.67, P=0.007), rs3752447 and FANCA rs62068372 PMID: 25243787
14. Results suggest that the nonsynonymous single nucleotide polymorphism (rs2239359) in the FANCA gene or other causal variations coexisting with the GGGAGG haplotype may increase risk of premature ovarian failure in Korean women. PMID: 24045675
15. Human Fanconi anemia complementation group a protein stimulates the 5' flap endonuclease activity of FEN1. PMID: 24349332
16. c.190-256_283 + 1680del2040 dupC mutation in the FANCA gene is a founder mutation in Macedonian Fanconi anemia patients of Gypsy-like ethnic origin. PMID: 24356203
17. Identified two unpredictable splicing mutations that act on either sides of FANCA exon 8. PMID: 24704046
18. miR-503 gene is methylated in non-small cell lung cancer cells. miR-503 targets a homologous DNA region in the 3'-UTR region of the Fanconi anemia complementation group A protein (FANCA) gene and represses its expression at the transcriptional level. PMID: 24486548
19. FANCA and FANCG are the major Fanconi anemia genes in the Korean population. PMID: 23067021
20. Data indicate that TLR-induced IL-1beta overproduction in FANCA- and FANCC-deficient mononuclear phagocyte cell lines and primary cells requires activation of the inflammasome. PMID: 24046015
21. A total of 13/166 patients were diagnosed with FA and 8/13 belonged to the FA-A subtype. A novel point mutation was identified in exon 26 of FANCA gene. PMID: 23898106
22. Sequence variants in FANCA could therefore be potential spoilers of the Fanconi-BRCA pathway and as a result, they could in turn have an impact in non-BRCA1/2 breast cancer families. PMID: 23021409
23. the nucleic acid-binding domain of FANCA is located primarily at its C terminus, where most disease-causing mutations are found. PMID: 22194614
24. All missense mutations studied lead to an altered FANCA protein that is unable to relocate to the nucleus and activate the FA/BRCA pathway. PMID: 21273304
25. FANCA deletions might contribute to breast cancer susceptibility, potentially in combination with other germline mutations PMID: 21236561
26. Cytoplasmic FANCA-FANCC complex was essential for NPMc stability. PMID: 20864535
27. Thirteen genetic subtypes have been described (A, B, C, D1, D2, E, F, G, I, J, L, M, and N), of which FANCA, FANCC, and FANCG are the three most common disease-causing genes PMID: 20425471
28. used to subtype Fanconi anemia T cells PMID: 12031647
29. FANCA may function to recruit IKK2, thus providing the cell a means of rapidly responding to stress. PMID: 12210728
30. Mutant FANCA proteins complement the sensitivity of DNA crosslinker mitomycin C at different grades: five proteins (group I) behave like wild-type FANCA, whereas the other proteins are either mildly (group II, n=4) or severely (group III, n=12) impaired. PMID: 12444097
31. Leukemic cells bearing both characteristic complex cytogenetic defects and marked decrease in nuclear FANCA, were analyzed for possible role of RANCA in cytogenetic instability and clonal progression to AML. PMID: 12637330
32. Deletion and reduced expression of the Fanconi anemia FANCA gene is associated with sporadic acute myeloid leukemia PMID: 14749703
33. 2 unique Fanconi-anemia-causing mutations were found: FANCA gross deletion of exons 6-31 & FANCA splice-site mutation IVS 42-2A>C. The gross deletion had recombination between 2 highly homologous Alu elements. The splice mutation had intron 42 retention. PMID: 15059067
34. FANCA and FANCG uniquely respond to oxidative damage by forming complexes via intermolecular disulfide linkages PMID: 15138265
35. FA proteins function at the level of chromatin during S phase to regulate and maintain genomic stability. PMID: 15256425
36. determination of whether FANCA gene mutations predispose to the development of familial pancreatic cancer PMID: 15591268
37. can be actively exported out of the nucleus by CRM1 PMID: 15790592
38. the FANCA allele with the tandem duplication does not appear to modify breast cancer risk but may act as a low penetrance protective allele for ovarian cancer PMID: 15860134
39. FANCA functions as a GnRH-induced signal transducer. PMID: 16946016
40. Results describe upregulated ATM gene expression and activated DNA crosslink-induced damage response checkpoints in Fanconi anemia with FANCA mutations, and the implications for carcinogenesis. PMID: 18224251
41. FANCA proteins are defective in Fanconi anemia patients. The disease-associated FANCA mutant was defective in binding to FANCG. PMID: 18457264
42. FANCA deficiencies may contribute to the high risk of FA patients for developing HPV-associated squamous cell carcinoma. PMID: 19015634
43. Phosphorylation of FANCA on serine 1449 is a DNA damage-specific event that is downstream of ATR and is functionally important in Fanconi anemia PMID: 19109555
44. Fanca-/- hematopoietic stem cells have a mobilization defect which can be overcome by administration of the Rac inhibitor NSC23766 PMID: 19491337

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HGNC: 3582

OMIM: 227650

KEGG: hsa:2175

STRING: 9606.ENSP00000373952

UniGene: Hs.744083