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FLASH GENE

Symbol

FANCF

contributors: mct/npt - updated : 08-06-2021

HGNC name	Fanconi anemia, complementation group F
HGNC id	3587

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FANCF Fanconi anemia, complementation group F
Location	11p14.3      Physical location : 22.644.078 - 22.647.387
Synonym name	protein FACF
Synonym symbol(s)	FAF, MGC126856

DNA

TYPE	functioning gene
SPECIAL FEATURE
text	intron less
STRUCTURE	3.31 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site
text structure	FANCF promoter cis element, which is activated by IRF8 in differentiating myeloid cells (Saberwal 2009)

MAPPING

cloned

Y

linked

N

status

provisional

Map	pter - D11S1359 - FANCF FANCF - D11S329 - cen
Authors	de Winter (00)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022725 1 - 3309 NP_073562 - 374 - 2019 31288759

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive salivary gland       highly Lymphoid/Immune spleen       highly   thymus       highly Reproductive female system uterus cervix   highly   male system testis     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal region of FANCF engages in interactions with the FANCC:FANCE subcomplex
	a putative RNA-binding domain
	putatively DNA-binding
	alpha helical structure
	C-terminal domain (CTD) interacts with FANCG

mono polymer

complex

HOMOLOGY

intraspecies

homolog to prokaryotic RNA-binding protein ROM

Homologene

FAMILY

CATEGORY

regulatory , DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm

basic FUNCTION	putative RNA binding protein involved in the protection of the genomic integrity of cells
	acting as a flexible adaptor protein that plays a key role in the proper assembly of the FA core complex
	could closely appose the FANCC:FANCE and FANCA:FANCG subcomplexes and thereby promote secondary interactions that stabilize the FA core complex in a functionally competent configuration
	required to prevent accumulation of replication-associated DNA double-strand breaks
	FANCA, FANCF, FANCL, FANCD2, BRCA1, and BRCA2, are required for mitophagy

CELLULAR PROCESS

nucleotide, genomic integrity

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

chromosome instability pathway

a component	component of a nuclear complex with FANCA, FANCC, FANCG(XRCC1)
	member of the Group I Fanconi anemia proteins including also FANCA, FANCB, FANCC, FANCE, FANCM, FANCG, FANCL

INTERACTION

DNA

RNA

small molecule

protein	FANCA
	interacting directly with FANCG and allows the assembly of other FA proteins into a stable complex by its C terminus
	FANCF is an IRF8 target gene (Saberwal 2009)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FANCF

related resource

Fanconi Anaemia Mutation Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in advanced stage invasive cervical cancer and in acute myeloid leukemia by promoter hypermethylation tumoral       loss of function in leukemia tumoral       loss of function by methylation of the promoter in a subset of ovarian, oral, lung, and cervical cancers

Susceptibility

to acquired pure red cell aplasia to epithelial ovarian cancer (EOC)

Variant & Polymorphism other	FANCF mutations may be associated with acquired PRCA
	CpG island methylation of FANCF gene promoter region is strongly associated with the susceptibility and clinicopathologic features of EOC

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS