KEGG   PATHWAY: mlx03460
Entry
mlx03460                    Pathway                                
Name
Fanconi anemia pathway - Mirounga leonina (Southern elephant seal)
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
mlx03460  Fanconi anemia pathway
mlx03460

Other DBs
GO: 0043240
Organism
Mirounga leonina (Southern elephant seal) [GN:mlx]
Gene
117998140  ERCC1; DNA excision repair protein ERCC-1 isoform X1 [KO:K10849]
117999125  PALB2; partner and localizer of BRCA2 isoform X1 [KO:K10897]
117999344  PMS2; mismatch repair endonuclease PMS2 isoform X1 [KO:K10858]
117999644  SLX1A; structure-specific endonuclease subunit SLX1 isoform X1 [KO:K15078] [EC:3.6.1.-]
117999829  TOP3B; DNA topoisomerase 3-beta-1 [KO:K03165] [EC:5.6.2.1]
118000136  TOP3A; DNA topoisomerase 3-alpha [KO:K03165] [EC:5.6.2.1]
118000498  HES1; transcription factor HES-1 [KO:K06054]
118001180  POLH; DNA polymerase eta isoform X1 [KO:K03509] [EC:2.7.7.7]
118001391  FANCE; Fanconi anemia group E protein isoform X1 [KO:K10892]
118001608  REV3L; DNA polymerase zeta catalytic subunit isoform X1 [KO:K02350] [EC:2.7.7.7]
118001726  MLH1; DNA mismatch repair protein Mlh1 isoform X1 [KO:K08734]
118002052  WDR48; WD repeat-containing protein 48 isoform X1 [KO:K15361]
118002193  FANCM; Fanconi anemia group M protein [KO:K10896]
118002999  RAD51; DNA repair protein RAD51 homolog 1 isoform X1 [KO:K04482]
118004406  POLI; DNA polymerase iota isoform X1 [KO:K03510] [EC:2.7.7.7]
118004694  ATR; serine/threonine-protein kinase ATR isoform X1 [KO:K06640] [EC:2.7.11.1]
118005844  ATRIP; ATR-interacting protein isoform X1 [KO:K10905]
118006075  FANCD2; Fanconi anemia group D2 protein [KO:K10891]
118006875  FANCB; Fanconi anemia group B protein isoform X1 [KO:K10889]
118008097  FANCL; E3 ubiquitin-protein ligase FANCL isoform X1 [KO:K10606] [EC:2.3.2.27]
118008244  REV1; DNA repair protein REV1 isoform X1 [KO:K03515] [EC:2.7.7.-]
118009525  BRCA2; breast cancer type 2 susceptibility protein [KO:K08775]
118010178  POLN; LOW QUALITY PROTEIN: DNA polymerase nu [KO:K16618] [EC:2.7.7.7]
118014195  UBE2T; ubiquitin-conjugating enzyme E2 T isoform X1 [KO:K13960] [EC:2.3.2.23]
118015555  [KO:K10740]
118015627  [KO:K10740]
118015696  FANCF; Fanconi anemia group F protein [KO:K10893]
118016068  MUS81; crossover junction endonuclease MUS81 isoform X1 [KO:K08991] [EC:3.1.22.-]
118016906  POLK; DNA polymerase kappa [KO:K03511] [EC:2.7.7.7]
118017987  FANCG; Fanconi anemia group G protein [KO:K10894]
118019334  USP1; ubiquitin carboxyl-terminal hydrolase 1 [KO:K11832] [EC:3.4.19.12]
118019808  RPA2; replication protein A 32 kDa subunit isoform X1 [KO:K10739]
118020020  CENPS; centromere protein S [KO:K11511]
118020805  RPA3; replication protein A 14 kDa subunit [KO:K10740]
118021694  TELO2; telomere length regulation protein TEL2 homolog isoform X1 [KO:K11137]
118021704  EME2; probable crossover junction endonuclease EME2 [KO:K10883]
118021764  SLX4; structure-specific endonuclease subunit SLX4 isoform X1 [KO:K10484]
118021848  ERCC4; DNA repair endonuclease XPF [KO:K10848] [EC:3.1.-.-]
118022000  RMI2; recQ-mediated genome instability protein 2 [KO:K15365]
118022735  FAAP24; Fanconi anemia core complex-associated protein 24 isoform X1 [KO:K10898]
118022971  FAN1; fanconi-associated nuclease 1 isoform X1 [KO:K15363] [EC:3.1.21.- 3.1.4.1]
118023046  FANCI; Fanconi anemia group I protein isoform X1 [KO:K10895]
118023077  BLM; Bloom syndrome protein isoform X1 [KO:K10901] [EC:5.6.2.4]
118023314  RMI1; recQ-mediated genome instability protein 1 [KO:K10990]
118023338  FANCC; Fanconi anemia group C protein [KO:K10890]
118023442  FANCA; Fanconi anemia group A protein isoform X1 [KO:K10888]
118024173  FAAP100; Fanconi anemia core complex-associated protein 100 isoform X1 [KO:K10993]
118024429  CENPX; centromere protein X [KO:K15360]
118024669  BRIP1; Fanconi anemia group J protein [KO:K15362] [EC:5.6.2.3]
118024694  RAD51C; DNA repair protein RAD51 homolog 3 [KO:K10870]
118024766  EME1; crossover junction endonuclease EME1 isoform X1 [KO:K10882] [EC:3.1.22.-]
118024950  BRCA1; breast cancer type 1 susceptibility protein isoform X1 [KO:K10605] [EC:2.3.2.27]
118025212  RPA1; replication protein A 70 kDa DNA-binding subunit [KO:K07466]
118026090  RPA4; LOW QUALITY PROTEIN: replication protein A 30 kDa subunit [KO:K10741]
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
mlx03430  Mismatch repair
mlx03440  Homologous recombination
KO pathway
ko03460   

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