Entry
Name
Fanconi anemia pathway - Homo sapiens (human)
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 repair
BRITE hierarchy
Pathway map
Ortholog table
Network
Element
N01447 Double Holliday junction dissolution
N01448 Double Holliday junction resolution
N01465 Lesion bypass by TLS and DSB formation
N01466 Homologous recombination in ICLR
N01539 RAD51 -dsDNA destabilization
Drug
Other DBs
Organism
Homo sapiens (human) [GN:
hsa ]
Gene
91442 FAAP24; FA core complex associated protein 24 [KO:K10898 ]
3280 HES1; hes family bHLH transcription factor 1 [KO:K06054 ]
80233 FAAP100; FA core complex associated protein 100 [KO:K10993 ]
2175 FANCA; FA complementation group A [KO:K10888 ]
2187 FANCB; FA complementation group B [KO:K10889 ]
2176 FANCC; FA complementation group C [KO:K10890 ]
2178 FANCE; FA complementation group E [KO:K10892 ]
2188 FANCF; FA complementation group F [KO:K10893 ]
2189 FANCG; FA complementation group G [KO:K10894 ]
2177 FANCD2; FA complementation group D2 [KO:K10891 ]
675 BRCA2; BRCA2 DNA repair associated [KO:K08775 ]
79728 PALB2; partner and localizer of BRCA2 [KO:K10897 ]
5395 PMS2; PMS1 homolog 2, mismatch repair system component [KO:K10858 ]
51455 REV1; REV1 DNA directed polymerase [KO:K03515 ] [EC:2.7.7.-]
5980 REV3L; REV3 like, DNA directed polymerase zeta catalytic subunit [KO:K02350 ] [EC:2.7.7.7 ]
80010 RMI1; RecQ mediated genome instability 1 [KO:K10990 ]
80198 MUS81; MUS81 structure-specific endonuclease subunit [KO:K08991 ] [EC:3.1.22.-]
146956 EME1; essential meiotic structure-specific endonuclease 1 [KO:K10882 ] [EC:3.1.22.-]
197342 EME2; essential meiotic structure-specific endonuclease subunit 2 [KO:K10883 ]
2072 ERCC4; ERCC excision repair 4, endonuclease catalytic subunit [KO:K10848 ] [EC:3.1.-.-]
2067 ERCC1; ERCC excision repair 1, endonuclease non-catalytic subunit [KO:K10849 ]
548593 SLX1A; SLX1 homolog A, structure-specific endonuclease subunit [KO:K15078 ] [EC:3.6.1.-]
79008 SLX1B; SLX1 homolog B, structure-specific endonuclease subunit [KO:K15078 ] [EC:3.6.1.-]
84464 SLX4; SLX4 structure-specific endonuclease subunit [KO:K10484 ]
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 pathway
KO pathway
LinkDB
All DBs