Fanconi anemia (Homo sapiens)

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16120201132061742014182010220(Sub)ComplexGeneFanconi anemia complementation groupLegendNBNREV1EGFRCENPSPSMB3FANCMMCM2SMARCA4UBE2TMDC1CENPXCEBPDMRE11HSP90B1MEN1BRCA2RAD50CTDP110616111849320122013961479FAAP2013FANCA9FANCB9FAAP24FANCG9FANCL99FANCCBRCA199FAAP100FANCI99FANCD2FANCE99FANCF9FA Core complex2020820202020202020DCLRE1B2017XRCC2PALB299RAD519SLX49PTEN19ATMERCC4209BRIP1RAD51C992020202017AG20 subcomplexCEF subcomplex2020BL100 subcomplex202202020FA Anchor complex20202020ID2 complex2020206666620202014MAD2L22020RFWD3UHRF1202020UHRF220FAN1202020USP1202027ATR2020201920202020ERCC1-ERCC41220202020ERCC120202020


Description

Fanconi anemia pathway

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Bibliography

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  1. Ling C, Ishiai M, Ali AM, Medhurst AL, Neveling K, Kalb R, Yan Z, Xue Y, Oostra AB, Auerbach AD, Hoatlin ME, Schindler D, Joenje H, de Winter JP, Takata M, Meetei AR, Wang W; ''FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway.''; EMBO J, 2007 PubMed Europe PMC Scholia
  2. Raghunandan M, Chaudhury I, Kelich SL, Hanenberg H, Sobeck A; ''''; , PubMed Europe PMC Scholia
  3. Hu WF, Krieger KL, Lagundžin D, Li X, Cheung RS, Taniguchi T, Johnson KR, Bessho T, Monteiro ANA, Woods NT; ''CTDP1 regulates breast cancer survival and DNA repair through BRCT-specific interactions with FANCI''; DOI: 10.1038/s41420-019-0185-3, 2019 PubMed Europe PMC Scholia
  4. Wang J, Sarkar TR, Zhou M, Sharan S, Ritt DA, Veenstra TD, Morrison DK, Huang AM, Sterneck E; ''CCAAT/enhancer binding protein delta (C/EBPdelta, CEBPD)-mediated nuclear import of FANCD2 by IPO4 augments cellular response to DNA damage.''; DOI: 10.1073/pnas.1002603107, 2010 PubMed Europe PMC Scholia
  5. Mamrak NE, Shimamura A, Howlett NG; ''Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.''; DOI: 10.1016/j.blre.2016.10.002, 2017 PubMed Europe PMC Scholia
  6. Roques C, Coulombe Y, Delannoy M, Vignard J, Grossi S, Brodeur I, Rodrigue A, Gautier J, Stasiak AZ, Stasiak A, Constantinou A, Masson JY; ''MRE11-RAD50-NBS1 is a critical regulator of FANCD2stability and function during DNA double-strand break repair''; DOI: 10.1038/emboj.2009.193, 2009 PubMed Europe PMC Scholia
  7. Lossaint G, Larroque M, Ribeyre C, Bec N, Larroque C, Décaillet C, Gari K, Constantinou A; ''FANCD2 binds MCM proteins and controls replisome function upon activation of s phase checkpoint signaling.''; Mol Cell, DOI: 10.1016/j.molcel.2013.07.023 PubMed Europe PMC Scholia
  8. Polito D, Cukras S, Wang X, Spence P, Moreau L, D'Andrea AD, Kee Y; ''The carboxyl terminus of FANCE recruits FANCD2 to the Fanconi Anemia (FA) E3 ligase complex to promote the FA DNA repair pathway.''; DOI: 10.1074/jbc.M113.533976, 2014 PubMed Europe PMC Scholia
  9. Kaljunen H, Taavitsainen S, Kaarijärvi R, Takala E, Paakinaho V, Nykter M, Bova GS, Ketola K; ''Fanconi anemia pathway regulation by FANCI in prostate cancer''; , 2023 PubMed Europe PMC Scholia
  10. Otsuki T, Furukawa Y, Ikeda K, Endo H, Yamashita T, Shinohara A, Iwamatsu A, Ozawa K, Liu JM; ''Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex.''; DOI: 10.1093/hmg/10.23.2651, 2001 PubMed Europe PMC Scholia
  11. Jin S, Mao H, Schnepp RW, Sykes SM, Silva AC, D'Andrea AD, Hua X; ''Menin associates with FANCD2, a protein involved in repair of DNA damage''; , 2003 PubMed Europe PMC Scholia
  12. Jacquemont C, Taniguchi T; ''Proteasome function is required for DNA damage response and fanconi anemia pathway activation''; DOI: 10.1158/0008-5472.CAN-07-1015, 2007 PubMed Europe PMC Scholia
  13. Kim H, Yang K, Dejsuphong D, D'Andrea AD; ''Regulation of Rev1 by the Fanconi anemia core complex''; DOI: 10.1038/nsmb.2222, 2012 PubMed Europe PMC Scholia
  14. Bick G, Zhang F, Meetei AR, Andreassen PR; ''Coordination of the recruitment of the FANCD2 and PALB2 Fanconi anemia proteins by an ubiquitin signaling network.''; DOI: 10.1007/s00412-016-0602-9, 2017 PubMed Europe PMC Scholia
  15. Zhao J, Zhang Y, Li W, Yao M, Liu C, Zhang Z, Wang C, Wang X, Meng K; ''Research progress of the Fanconi anemia pathway and premature ovarian insufficiency†.''; DOI: 10.1093/biolre/ioad110, 2023 PubMed Europe PMC Scholia
  16. Hoshino T, Wang J, Devetten MP, Iwata N, Kajigaya S, Wise RJ, Liu JM, Youssoufian H; ''Molecular chaperone GRP94 binds to the Fanconi anemia group C protein and regulates its intracellular expression''; , 1998 PubMed Europe PMC Scholia
  17. Mason JM, Das I, Arlt M, Patel N, Kraftson S, Glover TW, Sekiguchi JM; ''The SNM1B/APOLLO DNA nuclease functions in resolution of replication stress and maintenance of common fragile site stability''; DOI: 10.1093/hmg/ddt340, 2013 PubMed Europe PMC Scholia
  18. Pfäffle HN, Wang M, Gheorghiu L, Ferraiolo N, Greninger P, Borgmann K, Settleman J, Benes CH, Sequist LV, Zou L, Willers H; ''EGFR-activating mutations correlate with a Fanconi anemia-like cellular phenotype that includes PARP inhibitor sensitivity.''; DOI: 10.1158/0008-5472.CAN-13-0044, 2013 PubMed Europe PMC Scholia
  19. Vuono EA, Mukherjee A, Vierra DA, Adroved MM, Hodson C, Deans AJ, Howlett NG; ''The PTEN phosphatase functions cooperatively with the Fanconi anemia proteins in DNA crosslink repair''; DOI: 10.1038/srep36439, 2016 PubMed Europe PMC Scholia
  20. Peake JD, Noguchi E; ''Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair''; DOI: 10.1007/s00439-022-02462-9, 2022 PubMed Europe PMC Scholia

History

CompareRevisionActionTimeUserComment
130157view16:20, 26 May 2024Vg.fien
129993view12:17, 24 May 2024Vg.fien
129598view13:10, 17 May 2024Vg.fien
129551view08:49, 13 May 2024Vg.fienNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
AG20 subcomplex
ATMGeneProductENSG00000149311 (Ensembl)
ATRGeneProductENSG00000175054 (Ensembl)
BL100 subcomplex
BRCA1GeneProductENSG00000012048 (Ensembl)
BRCA2GeneProductENSG00000139618 (Ensembl)
BRIP1GeneProductENSG00000136492 (Ensembl)
CEBPDGeneProductENSG00000221869 (Ensembl)
CEF subcomplex
CENPSGeneProductENSG00000175279 (Ensembl)
CENPXGeneProductENSG00000169689 (Ensembl)
CTDP1GeneProductENSG00000060069 (Ensembl)
DCLRE1BGeneProductENSG00000118655 (Ensembl)
EGFRGeneProductENSG00000146648 (Ensembl)
ERCC1-ERCC4
ERCC1GeneProductENSG00000012061 (Ensembl)
ERCC4GeneProductENSG00000175595 (Ensembl)
FA Anchor complex
FA Core complex
FAAP100GeneProductENSG00000185504 (Ensembl)
FAAP20GeneProductENSG00000162585 (Ensembl)
FAAP24GeneProductENSG00000131944 (Ensembl)
FAN1 GeneProductENSG00000198690 (Ensembl)
FANCAGeneProductENSG00000187741 (Ensembl)
FANCBGeneProductENSG00000181544 (Ensembl)
FANCCGeneProductENSG00000158169 (Ensembl)
FANCD2GeneProductENSG00000144554 (Ensembl)
FANCEGeneProductENSG00000112039 (Ensembl)
FANCFGeneProductENSG00000183161 (Ensembl)
FANCGGeneProductENSG00000221829 (Ensembl)
FANCIGeneProductENSG00000140525 (Ensembl)
FANCLGeneProductENSG00000115392 (Ensembl)
FANCMGeneProductENSG00000187790 (Ensembl)
HSP90B1GeneProductENSG00000166598 (Ensembl)
ID2 complex
MAD2L2GeneProductENSG00000116670 (Ensembl)
MCM2GeneProductENSG00000073111 (Ensembl)
MDC1GeneProductENSG00000206481 (Ensembl)
MEN1GeneProductENSG00000133895 (Ensembl)
MRE11GeneProductENSG00000020922 (Ensembl)
NBNGeneProductENSG00000104320 (Ensembl)
PALB2GeneProductENSG00000083093 (Ensembl)
PSMB3GeneProductENSG00000275903 (Ensembl)
PTENGeneProductENSG00000171862 (Ensembl)
RAD50GeneProductENSG00000113522 (Ensembl)
RAD51CGeneProductENSG00000108384 (Ensembl)
RAD51GeneProductENSG00000051180 (Ensembl)
REV1GeneProductENSG00000135945 (Ensembl)
RFWD3GeneProductENSG00000168411 (Ensembl)
SLX4GeneProductENSG00000188827 (Ensembl)
SMARCA4GeneProductENSG00000127616 (Ensembl)
UBE2TGeneProductENSG00000077152 (Ensembl)
UHRF1GeneProductENSG00000276043 (Ensembl)
UHRF2GeneProductENSG00000147854 (Ensembl)
USP1GeneProductENSG00000162607 (Ensembl)
XRCC2GeneProductENSG00000196584 (Ensembl)

Annotated Interactions

No annotated interactions

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