Fanconi anemia (FA) pathway



The Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recruit the FA core complex. The FA core complex monoubiquitinates FANCD2 and FANCI. The monoubiquitinated FANCD2/FANCI becomes an active form and interacts with a series of DNA repair proteins and facilitates downstream repair pathways. Fanconi anemia is caused by mutations in one of at least 13 FA genes and is characterized by congenital growth abnormalities, bone marrow failure and cancer predisposition.

Fanconi anemia (FA), a recessive syndrome with both autosomal and X-linked inheritance, features diverse clinical symptoms, such as progressive bone marrow failures, chromosomal instability and susceptibility to cancer. To date, 12 FA gene products have been identified, which cooperate in a common DNA damage-activated signaling pathway regulating DNA repair (the FA pathway).

KEGG database - FA - Homo sapienshsa03460
KEGG database - FA - Mus musculus (mouse)

FA pathway

FA pathway
FA/BRCA pathway of ICL-repair
DNA interstrand cross-link (ICL) strand repair


XFE progeroid syndrome (XFEPS)
Bloom syndrome
breast cancer (BC)
cerebro-oculo-facio-skeletal syndrome 4 (COFS4)
hereditary non polyposis colorectal carcinoma, TYPE 2
hereditary non-polyposis colorectal cancer, TYPE 4
endometrial cancer
mismatch repair cancer syndrome (MMRCS)
Muir-Torre syndrome
prostate cancer
Seckel syndrome 1 (SCKL1)
xeroderma pigmentosum, complementation group F (XPF)
xeroderma pigmentosum, VARIANT type (XPV)
breast-ovarian cancer familial type 2 (BROVCA2)
pancreatic cancer type 2
Fanconi anemia, complementation group D1 (FANCD1)
glioma type 3
lobular carcinoma in situ (LCIS)
Fanconi anemia, complementation group B (FANCB)
Fanconi anemia, complementation group A (FANCA)
Fanconi anemia, complementation group C (FANCC)
Fanconi anemia, complementation group D2 (FANCD2)
Fanconi anemia, complementation group E (FANCE)
Fanconi anemia, complementation group F (FANCF)
Fanconi anemia, complementation group G (FANCG)
Fanconi anemia, complementation group I (FANCI)
Fanconi anemia, complementation group J (FANCJ)
Fanconi anemia, complementation group L (FANCL)
Fanconi anemia, complementation group M (FANCM)
Fanconi anemia, complementation group N (FANCN)
pancreatic cancer, susceptibility to, 3
Aicardi-Goutieres syndrome 1 (AGS1)
breast-ovarian cancer familial type 1 (BROVCA1)


ORTHOLOGY CLASS Homo sapiens L. (human) [HSA] Mus musculus L. (mouse) [MMU] Caenorhabditis elegans Maupas (nematode) [CEL] Drosophila melanogaster Meigen (fruit fly) [DME] Saccharomyces cerevisiae Meyen ex E.C. Hansen (budding yeast) [SCE] Schizo-saccharomyces pombe Lindner (fission yeast) [SPO] Escherichia coli Migula (bacterium) K-12 MG1655 [ECO] Arabidopsis thaliana (L.) Heynh. (mouse-ear cress) [ATH]
ko:K15365 (RecQ-mediated genome instability protein 2) RMI2 Rmi2 gi:15223204
ko:K15364 (RecQ-mediated genome instability protein 1) RMI1 rmi1
ko:K15363 (fanconi-associated nuclease 1) FAN1 Fan1 gi:17538392 gi:19112187 gi:186489458
ko:K15362 (fanconi anemia group J protein [EC:]) BACH1/BRIP1 (FANCJ) Brip1 dog-1 gi:42562202
ko:K15361 (WD repeat-containing protein 48) WDR48 Wdr48 gi:212645782 gi:24652663 gi:19113838 gi:18397118
ko:K15360 (centromere protein X) STRA13 Stra13 gi:17540166 gi:145327735
ko:K15079 (structure-specific endonuclease subunit SLX4) SLX4
ko:K15078 (structure-specific endonuclease subunit SLX1 [EC:3.6.1.-]) SLX1A
Slx1b gi:17507665 gi:281360057 SLX1 slx1 gi:15239808
ko:K13960 (ubiquitin-conjugating enzyme E2 T [EC:]) UBE2T Ube2t UBC37
ko:K11832 (ubiquitin carboxyl-terminal hydrolase 1 [EC:]) USP1 Usp1 gi:281362798
ko:K11511 (centromere protein S) APITD1 Apitd1
ko:K11137 (telomere length regulation protein) TELO2 Telo2 clk-2 TEL2 tel2 gi:30693041
ko:K10993 (fanconi anemia core complex 100 kDa subunit) FAAP100 Faap100
ko:K10990 (RecQ-mediated genome instability protein 1) RMI1 Rmi1 gi:25150267 gi:186532706
ko:K10905 (ATR interacting protein) ATRIP Atrip
ko:K10901 (bloom syndrome protein [EC:]) RECQL3 (BLM) Blm him-6 mus309 SGS1 rqh1 gi:240254298
ko:K10898 (fanconi anemia-associated protein) FAAP24 Faap24
ko:K10897 (partner and localizer of BRCA2) FANCN (PALB2) Palb2
ko:K10896 (fanconi anemia group M protein) FANCM Fancm gi:116008407 gi:15219634
ko:K10895 (fanconi anemia group I protein) FANCI Fanci fnci-1 gi:221330074 gi:186530637
ko:K10894 (fanconi anemia group G protein) FANCG (XRCC9) Fancg
ko:K10893 (fanconi anemia group F protein) FANCF Fancf
ko:K10892 (fanconi anemia group E protein) FANCE Fance
ko:K10891 (fanconi anemia group D2 protein) FANCD2 Fancd2 fcd-2 Fancd2 gi:240255840
ko:K10890 (fanconi anemia group C protein) FANCC Fancc
ko:K10889 (fanconi anemia group B protein) FANCB Fancb
ko:K10888 (fanconi anemia group A protein) FANCA Fanca
ko:K10883 (crossover junction endonuclease EME2) EME2 Eme2
ko:K10882 (crossover junction endonuclease EME1 [EC:3.1.22.-]) EME1 Eme1 mms4 eme1 gi:240254508
ko:K10870 (RAD51-like protein 2) RAD51C Rad51c spn-D gi:18406752
ko:K10858 (DNA mismatch repair protein PMS2) PMS2 Pms2 pms-2 Pms2 PMS1 pms1 PMS1
ko:K10849 (DNA excision repair protein ERCC-1) ERCC1 Ercc1 gi:25144926 Ercc1 RAD10 swi10 ERCC1
ko:K10848 (DNA excision repair protein ERCC-4 [EC:3.1.-.-]) ERCC4 (XPF) Ercc4 C47D12.8 mei-9 RAD1 rad16 UVH1
ko:K10741 (replication factor A4) RPA4
ko:K10740 (replication factor A3) RPA3 Rpa3 Dmel_CG15220 ssb3 At4g18590
ko:K10739 (replication factor A2) RPA2 Rpa2 rpa-2
RPA2 RFA2 ssb2 RPA2
ko:K10606 (E3 ubiquitin-protein ligase FANCL [EC:]) FANCL Fancl Fancl AT5G65740
ko:K10605 (breast cancer type 1 susceptibility protein) BRCA1 Brca1
ko:K10484 (structure-specific endonuclease subunit SLX4 (BTB/POZ domain-containing protein 12)) SLX4 Slx4
ko:K08991 (crossover junction endonuclease MUS81 [EC:3.1.22.-]) MUS81 Mus81 mus-81 mus81 MUS81 mus81 gi:240256383
ko:K08775 (breast cancer 2 susceptibility protein) BRCA2 (FANCD1) Brca2 BRCA2(IV)
ko:K08734 (DNA mismatch repair protein MLH1) MLH1 Mlh1 mlh-1 Mlh1 MLH1 mlh1 MLH1
ko:K07466 (replication factor A1) RPA1 Rpa1 rpa-1 RpA-70 RFA1 ssb1 RPA1A
ko:K06640 (serine/threonine-protein kinase ATR [EC:]) ATR Atr mei-41 rad3 ATRAD3
ko:K06054 (hairy and enhancer of split 1) HES1 Hes1
ko:K04482 (DNA repair protein RAD51) RAD51 Rad51 rad-51 spn-A RAD51 rhp51 gi:18420327
ko:K03515 (DNA repair protein REV1 [EC:2.7.7.-]) REV1L (REV1) Rev1 rev-1 Rev1 REV1 rev1 REV1
ko:K03511 (DNA polymerase kappa subunit [EC:]) POLκ (POLK/DINB1) Polk Polk-1 mug40 POLK
ko:K03510 (DNA polymerase iota subunit [EC:]) POLι (POLI/RAD30B) Poli DNApol-iota
ko:K03509 (DNA polymerase eta subunit [EC:]) POLη (POLH /RAD30A) Polh polh-1 DNApol-eta RAD30 eso1 POLH
ko:K03508 (DNA polymerase zeta subunit [EC:]) REV7
ko:K03165 (DNA topoisomerase III [EC:]) TOP3B
TOP3 top3 TOP3A
ko:K02350 (DNA polymerase zeta subunit [EC:]) REV3L
Rev3l polz mus205 REV3 rev3 ATREV3
ko:K10791 (three prime repair exonuclease 2 [EC:]) TREX2 Trex2
ko:K10790 (three prime repair exonuclease 1 [EC:]) TREX1 (DNase III) Trex1
ko:K15341 (DNA cross-link repair 1B protein [EC:3.1.-.-]) DCLRE1B (5' exo APOLLO) Dclre1b gi:15223519
ko:K15340 (DNA cross-link repair 1A protein) DCLRE1A Dclre1a Snm1 PSO2 pso2 SNM1


  • FANCJ: solving problems in DNA replication.
    Hiom K.
    , 2010 , : [PUBMED]
  • Susceptibility pathways in Fanconi's anemia and breast cancer.
    D'Andrea AD.
    , 2010 , : [PUBMED]
  • Assembling an orchestra: Fanconi anemia pathway of DNA repair.
    Yuan F, Song L, Qian L, Hu JJ, Zhang Y.
    , 2010 , : [PUBMED]
  • Expanded roles of the Fanconi anemia pathway in preserving genomic stability.
    Kee Y, D'Andrea AD.
    , 2010 , : [PUBMED]
  • Fanconi anemia: a disorder defective in the DNA damage response.
    Kitao H, Takata M.
    , 2011 , : [PUBMED]
  • Fanconi anaemia proteins are associated with sister chromatid bridging in mitosis.
    Ying S, Hickson ID.
    , 2011 , : [PUBMED]
  • Fanconi anaemia: from a monogenic disease to sporadic cancer.
    Valeri A, Martínez S, Casado JA, Bueren JA.
    , 2011 , : [PUBMED]
  • The Fanconi anemia pathway and DNA interstrand cross-link repair.
    Su X, Huang J.
    , 2011 , : [PUBMED]
  • Fanconi anemia: at the crossroads of DNA repair.

    , , : [PUBMED]
  • DNA interstrand crosslink repair and cancer.

    , , : [PUBMED]

Last modification date: Oct. 11, 2011