KEGG   PATHWAY: aful03460
Entry
aful03460                   Pathway                                
Name
Fanconi anemia pathway - Aythya fuligula (tufted duck)
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
Pathway map
aful03460  Fanconi anemia pathway
aful03460

Other DBs
GO: 0043240
Organism
Aythya fuligula (tufted duck) [GN:aful]
Gene
116493085  ATRIP; ATR-interacting protein [KO:K10905]
116492555  ATR; LOW QUALITY PROTEIN: serine/threonine-protein kinase ATR [KO:K06640] [EC:2.7.11.1]
116489442  FANCM; Fanconi anemia group M protein [KO:K10896]
116493818  FAAP24; Fanconi anemia core complex-associated protein 24 isoform X1 [KO:K10898]
116497691  centromere protein S-like [KO:K11511]
116496393  CENPX; centromere protein X [KO:K15360]
116495368  TELO2; telomere length regulation protein TEL2 homolog [KO:K11137]
116497606  HES4; LOW QUALITY PROTEIN: transcription factor HES-4 [KO:K06054]
116492614  HES1; LOW QUALITY PROTEIN: transcription factor HES-1 [KO:K06054]
116496730  FAAP100; Fanconi anemia core complex-associated protein 100 isoform X1 [KO:K10993]
116494036  FANCA; Fanconi anemia group A protein [KO:K10888]
116495662  FANCB; Fanconi anemia group B protein [KO:K10889]
116500765  FANCC; Fanconi anemia group C protein [KO:K10890]
116498686  FANCE; Fanconi anemia group E protein [KO:K10892]
116489965  FANCF; Fanconi anemia group F protein [KO:K10893]
116500779  FANCG; Fanconi anemia group G protein [KO:K10894]
116487711  FANCL; E3 ubiquitin-protein ligase FANCL isoform X1 [KO:K10606] [EC:2.3.2.27]
116485743  WDR48; WD repeat-containing protein 48 [KO:K15361]
116491784  USP1; ubiquitin carboxyl-terminal hydrolase 1 [KO:K11832] [EC:3.4.19.12]
116498799  UBE2T; ubiquitin-conjugating enzyme E2 T [KO:K13960] [EC:2.3.2.23]
116493466  FANCI; Fanconi anemia group I protein isoform X1 [KO:K10895]
116493237  FANCD2; Fanconi anemia group D2 protein [KO:K10891]
116499758  BRCA2; breast cancer type 2 susceptibility protein isoform X1 [KO:K08775]
116495452  PALB2; partner and localizer of BRCA2 [KO:K10897]
116497294  RAD51C; DNA repair protein RAD51 homolog 3 [KO:K10870]
116490270  RAD51; DNA repair protein RAD51 homolog 1 [KO:K04482]
116498528  BRCA1; breast cancer type 1 susceptibility protein isoform X1 [KO:K10605] [EC:2.3.2.27]
116497321  BRIP1; Fanconi anemia group J protein isoform X1 [KO:K15362] [EC:5.6.2.3]
116493593  FAN1; fanconi-associated nuclease 1 [KO:K15363] [EC:3.1.21.- 3.1.4.1]
116486530  MLH1; DNA mismatch repair protein Mlh1 [KO:K08734]
116495455  PMS2; mismatch repair endonuclease PMS2 [KO:K10858]
116495202  REV1; DNA repair protein REV1 isoform X1 [KO:K03515] [EC:2.7.7.-]
116487285  REV3L; DNA polymerase zeta catalytic subunit [KO:K02350] [EC:2.7.7.7]
116487815  POLH; DNA polymerase eta [KO:K03509] [EC:2.7.7.7]
116500583  POLI; DNA polymerase iota [KO:K03510] [EC:2.7.7.7]
116500784  POLK; DNA polymerase kappa isoform X1 [KO:K03511] [EC:2.7.7.7]
116488929  POLN; DNA polymerase nu [KO:K16618] [EC:2.7.7.7]
116500440  RMI1; recQ-mediated genome instability protein 1 [KO:K10990]
116495380  RMI2; recQ-mediated genome instability protein 2 [KO:K15365]
116495514  TOP3A; DNA topoisomerase 3-alpha [KO:K03165] [EC:5.6.2.1]
116496317  TOP3B; DNA topoisomerase 3-beta-1 [KO:K03165] [EC:5.6.2.1]
116493751  BLM; Bloom syndrome protein [KO:K10901] [EC:5.6.2.4]
116497246  RPA1; replication protein A 70 kDa DNA-binding subunit isoform X1 [KO:K07466]
116498139  RPA2; replication protein A 32 kDa subunit [KO:K10739]
116486009  RPA3; replication protein A 14 kDa subunit [KO:K10740]
116496682  EME1; crossover junction endonuclease EME1 [KO:K10882] [EC:3.1.22.-]
116495360  EME2; LOW QUALITY PROTEIN: probable crossover junction endonuclease EME2 [KO:K10883]
116495398  ERCC4; DNA repair endonuclease XPF isoform X1 [KO:K10848] [EC:3.1.-.-]
116495298  SLX4; structure-specific endonuclease subunit SLX4 isoform X1 [KO:K10484]
Reference
PMID:18047734
  Authors
Jacquemont C, Taniguchi T
  Title
The Fanconi anemia pathway and ubiquitin.
  Journal
BMC Biochem 8 Suppl 1:S10 (2007)
DOI:10.1186/1471-2091-8-S1-S10
Reference
PMID:19805513
  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
Mol Cell Biol 29:6427-37 (2009)
DOI:10.1128/MCB.00086-09
Reference
PMID:21701511
  Authors
Deans AJ, West SC
  Title
DNA interstrand crosslink repair and cancer.
  Journal
Nat Rev Cancer 11:467-80 (2011)
DOI:10.1038/nrc3088
Reference
PMID:20064461
  Authors
Deans AJ, West SC
  Title
FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia.
  Journal
Mol Cell 36:943-53 (2009)
DOI:10.1016/j.molcel.2009.12.006
Reference
PMID:20039786
  Authors
Muniandy PA, Liu J, Majumdar A, Liu ST, Seidman MM
  Title
DNA interstrand crosslink repair in mammalian cells: step by step.
  Journal
Crit Rev Biochem Mol Biol 45:23-49 (2010)
DOI:10.3109/10409230903501819
Reference
PMID:18518821
  Authors
Ciccia A, McDonald N, West SC
  Title
Structural and functional relationships of the XPF/MUS81 family of proteins.
  Journal
Annu Rev Biochem 77:259-87 (2008)
DOI:10.1146/annurev.biochem.77.070306.102408
Related
pathway
aful03430  Mismatch repair
aful03440  Homologous recombination
KO pathway
ko03460   
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