KEGG   PATHWAY: hsa03460Help
Entry
hsa03460                    Pathway                                

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
Fanconi anemia pathway
hsa03460

All organismsOrtholog table
Module
DNA polymerase zeta  complex [PATH:hsa03460]
BRCA1-associated genome surveillance complex (BASC) [PATH:hsa03460]
FA core complex [PATH:hsa03460]
Bloom's syndrome complex [PATH:hsa03460]
Disease
H00238  
Fanconi anemia
H00992  
Seckel syndrome
H01346  
Bloom syndrome
Other DBs
BSID: 
GO: 
Organism
Homo sapiens (human) [GN:hsa]
Gene
84126  
ATRIP; ATR interacting protein [KO:K10905]
545  
ATR; ATR serine/threonine kinase [KO:K06640] [EC:2.7.11.1]
57697  
FANCM; Fanconi anemia, complementation group M [KO:K10896]
91442  
C19orf40; chromosome 19 open reading frame 40 [KO:K10898]
378708  
APITD1; apoptosis-inducing, TAF9-like domain 1 [KO:K11511]
201254  
STRA13; stimulated by retinoic acid 13 [KO:K15360]
9894  
TELO2; telomere maintenance 2 [KO:K11137]
3280  
HES1; hes family bHLH transcription factor 1 [KO:K06054]
80233  
C17orf70; chromosome 17 open reading frame 70 [KO:K10993]
2175  
FANCA; Fanconi anemia, complementation group A [KO:K10888]
2187  
FANCB; Fanconi anemia, complementation group B [KO:K10889]
2176  
FANCC; Fanconi anemia, complementation group C [KO:K10890]
2178  
FANCE; Fanconi anemia, complementation group E [KO:K10892]
2188  
FANCF; Fanconi anemia, complementation group F [KO:K10893]
2189  
FANCG; Fanconi anemia, complementation group G [KO:K10894]
55120  
FANCL; Fanconi anemia, complementation group L [KO:K10606] [EC:6.3.2.19]
57599  
WDR48; WD repeat domain 48 [KO:K15361]
7398  
USP1; ubiquitin specific peptidase 1 [KO:K11832] [EC:3.1.2.15]
29089  
UBE2T; ubiquitin-conjugating enzyme E2T (putative) [KO:K13960] [EC:6.3.2.19]
55215  
FANCI; Fanconi anemia, complementation group I [KO:K10895]
2177  
FANCD2; Fanconi anemia, complementation group D2 [KO:K10891]
675  
BRCA2; breast cancer 2, early onset [KO:K08775]
79728  
PALB2; partner and localizer of BRCA2 [KO:K10897]
5889  
RAD51C; RAD51 paralog C [KO:K10870]
5888  
RAD51; RAD51 recombinase [KO:K04482]
672  
BRCA1; breast cancer 1, early onset [KO:K10605]
83990  
BRIP1; BRCA1 interacting protein C-terminal helicase 1 [KO:K15362] [EC:3.6.4.12]
22909  
FAN1; FANCD2/FANCI-associated nuclease 1 [KO:K15363] [EC:3.1.4.1 3.1.21.-]
4292  
MLH1; mutL homolog 1 [KO:K08734]
5395  
PMS2; PMS2 postmeiotic segregation increased 2 (S. cerevisiae) [KO:K10858]
51455  
REV1; REV1, polymerase (DNA directed) [KO:K03515] [EC:2.7.7.-]
5980  
REV3L; REV3-like, polymerase (DNA directed), zeta, catalytic subunit [KO:K02350] [EC:2.7.7.7]
5429  
POLH; polymerase (DNA directed), eta [KO:K03509] [EC:2.7.7.7]
11201  
POLI; polymerase (DNA directed) iota [KO:K03510] [EC:2.7.7.7]
51426  
POLK; polymerase (DNA directed) kappa [KO:K03511] [EC:2.7.7.7]
353497  
POLN; polymerase (DNA directed) nu [KO:K16618] [EC:2.7.7.7]
80010  
RMI1; RecQ mediated genome instability 1 [KO:K10990]
116028  
RMI2; RecQ mediated genome instability 2 [KO:K15365]
7156  
TOP3A; topoisomerase (DNA) III alpha [KO:K03165] [EC:5.99.1.2]
8940  
TOP3B; topoisomerase (DNA) III beta [KO:K03165] [EC:5.99.1.2]
641  
BLM; Bloom syndrome, RecQ helicase-like [KO:K10901] [EC:3.6.4.12]
6117  
RPA1; replication protein A1, 70kDa [KO:K07466]
6118  
RPA2; replication protein A2, 32kDa [KO:K10739]
6119  
RPA3; replication protein A3, 14kDa [KO:K10740]
29935  
RPA4; replication protein A4, 30kDa [KO:K10741]
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; excision repair cross-complementation group 4 [KO:K10848] [EC:3.1.-.-]
2067  
ERCC1; excision repair cross-complementation group 1 [KO:K10849]
548593  
SLX1A; SLX1 structure-specific endonuclease subunit homolog A (S. cerevisiae) [KO:K15078] [EC:3.6.1.-]
79008  
SLX1B; SLX1 structure-specific endonuclease subunit homolog B (S. cerevisiae) [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
BMC Biochem 8 Suppl 1:S10 (2007)
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
Mol Cell Biol 29:6427-37 (2009)
Reference
  Authors
Deans AJ, West SC
  Title
DNA interstrand crosslink repair and cancer.
  Journal
Nat Rev Cancer 11:467-80 (2011)
Reference
  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)
Reference
  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)
Reference
  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)
KO pathway
 

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