Table Info

Table 1.

Fanconi anaemia protein family and associated proteins

Approved gene nomenclature	Alias	Area of pathway	Role in ICL
*FANCA*		FA core complex	Functions in the AG20 subcomplex with FANCG to promote FA core complex localisation and translocation
*FANCB*		FA core complex	Functions in the BL100 subcomplex with FANCL to improve efficiency of FANCD2/I ubiquitylation and provide structural scaffold
*FANCC*		FA core complex	Component of the CEF subcomplex with FANCE, FANCF to stabilize interactions between FANCD2/I complex and FA core complex and improve ubiquitylation efficiency
*FANCE*		FA core complex	Component of the CEF subcomplex with FANCC, FANCF to stabilize interactions between FANCD2/I complex and FA core complex and improve ubiquitylation efficiency
*FANCF*		FA core complex	Component of the CEF subcomplex with FANCC, FANCE to stabilize interactions between FANCD2/I complex and FA core complex and improve ubiquitylation efficiency
*FANCG*	XRCC9	FA core complex	Functions in the AG20 subcomplex with FANCA to promote FA core complex localisation and translocation
*FANCL*		FA core complex	Component of the BL100 subcomplex and E3 ubiquitin ligase controlling monoubiquitylation of FANCD2/I
*FANCM*		FA core complex	Binds FA core complex to chromatin at ICL sites
*FANCT*	UBE2T	FA core complex	E2 ubiquitin ligase controlling monoubiquitylation of FANCD2/I
*FANCD2*		FANCD2/I complex	Initiates unhooking by nucleases
*FANCI*		FANCD2/I complex	Initiates unhooking by nucleases
*SLX4*	FANCP	Unhooking	Recruits and regulates nuclease activity during unhooking
*ERCC4*	FANCQ, XPF	Unhooking	Key endonuclease mediating incision of crosslink during unhooking
*MAD2L2*	FANCV, REV7	TLS	Subunit of the TLS extension polymerase POLζ
*BRIP1*	FANCJ, BACH1	TLS/HR	Regulates pathway choice between TLS and HR repair
*BRCA2*	FANCD1	HR	Recruitment of RAD51 to ssDNA
*PALB2*	FANCN	HR	Mediates loading of BRCA1/2 complex on to single stranded DNA
*RAD51C*	FANCO	HR	RAD51 nucleoprotein filament assembly
*RAD51*	FANCR	HR	Forms nucleoprotein filaments which mediate template homology search and strand exchange
*BRCA1*	FANCS	HR	CMG helicase eviction, HR pathway promotion and TLS inhibition in complex with FANCJ, complex formation with BRCA2 during HR
*XRCC2*	FANCU	HR	RAD51 nucleoprotein filament assembly
*RFWD3*	FANCW	HR	Mediates RPA dynamics to promote HR
FAAP10^*	MHF2, CENPX, STRA13	FA core complex	Localization of FANCM to chromatin
FAAP16^*	MHF1, CENPS, APITD1	FA core complex	Localization of FANCM to chromatin
FAAP20^*		FA core complex	Promotes stability of the AG20 subcomplex
FAAP24^*		FA core complex	Associates with FANCM to mediate DNA binding of the FA core complex
FAAP100^*		FA core complex	Functions within the BL100 subcomplex to provide structural scaffold

Genes are not true FA family members as mutations have not been documented in FA patients, but are members of the family of FA Associated Proteins, and are required for the successful function of the FA pathway. FAAP: Fanconi anaemia associated protein

Declarations

Author contributions

SJT prepared the majority of the first draft while MJA and SPL contributed further sections. All authors contributed to manuscript revision, read and approved the submitted version.

Conflicts of interest

The authors declare that they have no conflicts of interest.

Ethical approval

Not applicable.

Consent to participate

Not applicable.

Consent to publication

Not applicable.

Availability of data and materials

Not applicable.

Funding

SJT, MJA and SPL gratefully acknowledges support from the Melville Trust for the Care and Cure of Cancer.

Copyright

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