Entry Name Fanconi anemia pathway
Description 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.
Class Genetic Information Processing; Replication and repairBRITE hierarchy
Pathway map Other DBs Orthology K03515 REV1; DNA repair protein REV1 [EC:2.7.7.-]
K04482 RAD51; DNA repair protein RAD51
K06054 HES1; hairy and enhancer of split 1
K07466 RFA1, RPA1, rpa; replication factor A1
K08734 MLH1; DNA mismatch repair protein MLH1
K08775 BRCA2, FANCD1; breast cancer 2 susceptibility protein
K08991 MUS81; crossover junction endonuclease MUS81 [EC:3.1.22.-]
K10484 BTBD12, SLX4; structure-specific endonuclease subunit SLX4 (BTB/POZ domain-containing protein 12)
K10605 BRCA1; breast cancer type 1 susceptibility protein [EC:2.3.2.27 ]
K10739 RFA2, RPA2; replication factor A2
K10740 RPA3; replication factor A3
K10741 RPA4; replication factor A4
K10848 ERCC4, XPF; DNA excision repair protein ERCC-4 [EC:3.1.-.-]
K10849 ERCC1; DNA excision repair protein ERCC-1
K10858 PMS2; DNA mismatch repair protein PMS2
K10870 RAD51L2, RAD51C; RAD51-like protein 2
K10882 EME1, MMS4; crossover junction endonuclease EME1 [EC:3.1.22.-]
K10883 EME2; crossover junction endonuclease EME2
K10888 FANCA; fanconi anemia group A protein
K10889 FANCB; fanconi anemia group B protein
K10890 FANCC; fanconi anemia group C protein
K10891 FANCD2; fanconi anemia group D2 protein
K10892 FANCE; fanconi anemia group E protein
K10893 FANCF; fanconi anemia group F protein
K10894 FANCG; fanconi anemia group G protein
K10895 FANCI; fanconi anemia group I protein
K10896 FANCM; fanconi anemia group M protein
K10897 PALB2, FANCN; partner and localizer of BRCA2
K10898 FAAP24; fanconi anemia-associated protein
K10905 ATRIP; ATR interacting protein
K10990 RMI1, BRAP75; RecQ-mediated genome instability protein 1
K10993 FAAP100; fanconi anemia core complex 100 kDa subunit
K11137 TELO2, TEL2; telomere length regulation protein
K11511 APITD1, CENPS, MHF1; centromere protein S
K13960 UBE2T, HSPC150; ubiquitin-conjugating enzyme E2 T [EC:2.3.2.23 ]
K15078 SLX1; structure-specific endonuclease subunit SLX1 [EC:3.6.1.-]
K15079 SLX4; structure-specific endonuclease subunit SLX4
K15360 STRA13, CENPX, MHF2; centromere protein X
K15361 WDR48, UAF1; WD repeat-containing protein 48
K15362 BRIP1, BACH1, FANCJ; fanconi anemia group J protein [EC:5.6.2.3 ]
K15363 FAN1, MTMR15; fanconi-associated nuclease 1 [EC:3.1.21.- 3.1.4.1 ]
K15364 NCE4, RMI1; RecQ-mediated genome instability protein 1
K15365 RMI2; RecQ-mediated genome instability protein 2
Reference Authors Jacquemont C, Taniguchi T
Title The Fanconi anemia pathway and ubiquitin.
Journal Reference Authors Bhagwat N, Olsen AL, Wang AT, Hanada K, Stuckert P, Kanaar R, D'Andrea A, Niedernhofer LJ, McHugh PJ
Title XPF-ERCC1 participates in the Fanconi anemia pathway of cross-link repair.
Journal Reference Authors Deans AJ, West SC
Title DNA interstrand crosslink repair and cancer.
Journal Reference Authors Deans AJ, West SC
Title FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia.
Journal Reference Authors Muniandy PA, Liu J, Majumdar A, Liu ST, Seidman MM
Title DNA interstrand crosslink repair in mammalian cells: step by step.
Journal Reference Authors Ciccia A, McDonald N, West SC
Title Structural and functional relationships of the XPF/MUS81 family of proteins.
Journal Related
