Fanconi anemia (WP5465)

Homo sapiens

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Fanconi anemia pathway

Authors

Vg.fien , Kristina Hanspers , and Alex Pico

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Annotations

Disease Ontology

Fanconi anemia

Participants
Query Drugst.One

Label Type Compact URI Comment
BRCA2 GeneProduct ensembl:ENSG00000139618
UBE2T GeneProduct ensembl:ENSG00000077152
SMARCA4 GeneProduct ensembl:ENSG00000127616
HSP90B1 GeneProduct ensembl:ENSG00000166598
MRE11 GeneProduct ensembl:ENSG00000020922
CENPX GeneProduct ensembl:ENSG00000169689
CEBPD GeneProduct ensembl:ENSG00000221869
MDC1 GeneProduct ensembl:ENSG00000206481
CENPS GeneProduct ensembl:ENSG00000175279
MEN1 GeneProduct ensembl:ENSG00000133895
EGFR GeneProduct ensembl:ENSG00000146648
CTDP1 GeneProduct ensembl:ENSG00000060069
FANCM GeneProduct ensembl:ENSG00000187790
PSMB3 GeneProduct ensembl:ENSG00000275903
NBN GeneProduct ensembl:ENSG00000104320
RAD50 GeneProduct ensembl:ENSG00000113522
REV1 GeneProduct ensembl:ENSG00000135945
MCM2 GeneProduct ensembl:ENSG00000073111
FAAP20 GeneProduct ensembl:ENSG00000162585
FANCA GeneProduct ensembl:ENSG00000187741
FANCB GeneProduct ensembl:ENSG00000181544
FAAP24 GeneProduct ensembl:ENSG00000131944
FANCG GeneProduct ensembl:ENSG00000221829
FANCL GeneProduct ensembl:ENSG00000115392
FANCC GeneProduct ensembl:ENSG00000158169
BRCA1 GeneProduct ensembl:ENSG00000012048
FAAP100 GeneProduct ensembl:ENSG00000185504
FANCI GeneProduct ensembl:ENSG00000140525
FANCD2 GeneProduct ensembl:ENSG00000144554
FANCE GeneProduct ensembl:ENSG00000112039
FANCF GeneProduct ensembl:ENSG00000183161
DCLRE1B GeneProduct ensembl:ENSG00000118655
XRCC2 GeneProduct ensembl:ENSG00000196584
PALB2 GeneProduct ensembl:ENSG00000083093
RAD51 GeneProduct ensembl:ENSG00000051180
SLX4 GeneProduct ensembl:ENSG00000188827
PTEN GeneProduct ensembl:ENSG00000171862
ATM GeneProduct ensembl:ENSG00000149311
ERCC4 GeneProduct ensembl:ENSG00000175595
BRIP1 GeneProduct ensembl:ENSG00000136492
RAD51C GeneProduct ensembl:ENSG00000108384
MAD2L2 GeneProduct ensembl:ENSG00000116670
RFWD3 GeneProduct ensembl:ENSG00000168411
UHRF1 GeneProduct ensembl:ENSG00000276043
UHRF2 GeneProduct ensembl:ENSG00000147854
FAN1 GeneProduct ensembl:ENSG00000198690
USP1 GeneProduct ensembl:ENSG00000162607
ATR GeneProduct ensembl:ENSG00000175054
ERCC1 GeneProduct ensembl:ENSG00000012061

References

  1. Molecular chaperone GRP94 binds to the Fanconi anemia group C protein and regulates its intracellular expression. Hoshino T, Wang J, Devetten MP, Iwata N, Kajigaya S, Wise RJ, et al. Blood. 1998 Jun 1;91(11):4379–86. PubMed Europe PMC Scholia
  2. Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex. Otsuki T, Furukawa Y, Ikeda K, Endo H, Yamashita T, Shinohara A, et al. Hum Mol Genet. 2001 Nov 1;10(23):2651–60. PubMed Europe PMC Scholia
  3. Menin associates with FANCD2, a protein involved in repair of DNA damage. Jin S, Mao H, Schnepp RW, Sykes SM, Silva AC, D’Andrea AD, et al. Cancer Res. 2003 Jul 15;63(14):4204–10. PubMed Europe PMC Scholia
  4. FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway. Ling C, Ishiai M, Ali AM, Medhurst AL, Neveling K, Kalb R, et al. EMBO J. 2007 Apr 18;26(8):2104–14. PubMed Europe PMC Scholia
  5. Proteasome function is required for DNA damage response and fanconi anemia pathway activation. Jacquemont C, Taniguchi T. Cancer Res. 2007 Aug 1;67(15):7395–405. PubMed Europe PMC Scholia
  6. MRE11-RAD50-NBS1 is a critical regulator of FANCD2 stability and function during DNA double-strand break repair. Roques C, Coulombe Y, Delannoy M, Vignard J, Grossi S, Brodeur I, et al. EMBO J. 2009 Aug 19;28(16):2400–13. PubMed Europe PMC Scholia
  7. CCAAT/enhancer binding protein delta (C/EBPdelta, CEBPD)-mediated nuclear import of FANCD2 by IPO4 augments cellular response to DNA damage. Wang J, Sarkar TR, Zhou M, Sharan S, Ritt DA, Veenstra TD, et al. Proc Natl Acad Sci U S A. 2010 Sep 14;107(37):16131–6. PubMed Europe PMC Scholia
  8. Regulation of Rev1 by the Fanconi anemia core complex. Kim H, Yang K, Dejsuphong D, D’Andrea AD. Nat Struct Mol Biol. 2012 Jan 22;19(2):164–70. PubMed Europe PMC Scholia
  9. The SNM1B/APOLLO DNA nuclease functions in resolution of replication stress and maintenance of common fragile site stability. Mason JM, Das I, Arlt M, Patel N, Kraftson S, Glover TW, et al. Hum Mol Genet. 2013 Dec 15;22(24):4901–13. PubMed Europe PMC Scholia
  10. EGFR-activating mutations correlate with a Fanconi anemia-like cellular phenotype that includes PARP inhibitor sensitivity. Pfäffle HN, Wang M, Gheorghiu L, Ferraiolo N, Greninger P, Borgmann K, et al. Cancer Res. 2013 Oct 15;73(20):6254–63. PubMed Europe PMC Scholia
  11. FANCD2 binds MCM proteins and controls replisome function upon activation of s phase checkpoint signaling. Lossaint G, Larroque M, Ribeyre C, Bec N, Larroque C, Décaillet C, et al. Mol Cell. 2013 Sep 12;51(5):678–90. PubMed Europe PMC Scholia
  12. The carboxyl terminus of FANCE recruits FANCD2 to the Fanconi Anemia (FA) E3 ligase complex to promote the FA DNA repair pathway. Polito D, Cukras S, Wang X, Spence P, Moreau L, D’Andrea AD, et al. J Biol Chem. 2014 Mar 7;289(10):7003–10. PubMed Europe PMC Scholia
  13. FANCD2, FANCJ and BRCA2 cooperate to promote replication fork recovery independently of the Fanconi Anemia core complex. Raghunandan M, Chaudhury I, Kelich SL, Hanenberg H, Sobeck A. Cell Cycle. 2015;14(3):342–53. PubMed Europe PMC Scholia
  14. Coordination of the recruitment of the FANCD2 and PALB2 Fanconi anemia proteins by an ubiquitin signaling network. Bick G, Zhang F, Meetei AR, Andreassen PR. Chromosoma. 2017 Jun;126(3):417–30. PubMed Europe PMC Scholia
  15. The PTEN phosphatase functions cooperatively with the Fanconi anemia proteins in DNA crosslink repair. Vuono EA, Mukherjee A, Vierra DA, Adroved MM, Hodson C, Deans AJ, et al. Sci Rep. 2016 Nov 7;6:36439. PubMed Europe PMC Scholia
  16. CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI. Hu WF, Krieger KL, Lagundžin D, Li X, Cheung RS, Taniguchi T, et al. Cell Death Discov. 2019 Jun 19;5:105. PubMed Europe PMC Scholia
  17. Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair. Peake JD, Noguchi E. Hum Genet. 2022 Dec;141(12):1811–36. PubMed Europe PMC Scholia
  18. Fanconi anemia pathway regulation by FANCI in prostate cancer. Kaljunen H, Taavitsainen S, Kaarijärvi R, Takala E, Paakinaho V, Nykter M, et al. Front Oncol. 2023 Oct 30;13:1260826. PubMed Europe PMC Scholia