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FLASH GENE

Symbol

FANCA

contributors: mct - updated : 04-12-2016

HGNC name	Fanconi anemia, complementation group A
HGNC id	3582

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FANCA Fanconi anemia, complementation group A
Location	16q24.3      Physical location : 89.803.958 - 89.883.065
Synonym name	Fanconi anemia, type 1
	protein FACA
Synonym symbol(s)	FA1, FAA, FACA, FANCH, FAH, MGC75158, FA

DNA

TYPE	functioning gene
STRUCTURE	79.11 kb     43 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

cytosine-phosphate-guanine/HTF

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000135 43 - 5460 NP_000126 - 1455 - 2006 16946016 NM_001018112 11 - 1673 NP_001018122 - 297 - 2006 16946016 NM_001286167 - - 5464 NP_001273096 - 1424 - 2006 16946016

EXPRESSION

Type

widely

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 intestine large intestine colon   highly   liver           stomach       highly Lymphoid/Immune lymph node       highly Reproductive female system uterus cervix   highly

cell lineage

cell lines

fluid/secretion

at STAGE

cell cycle

cell cycle, checkpoint, M exit

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	bipartite nuclear localization signal (NLS) motifs at the N terminus,
	putative peroxidase domain
	partial b leucine-zipper
	multiple leucine-rich nuclear export sequences
	a nucleic acid-binding domain of FANCA is located primarily at its C terminus, where most disease-causing mutations are found

mono polymer

complex

HOMOLOGY

interspecies

homolog to murine Fanca

Homologene

FAMILY

CATEGORY

regulatory , DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome
text	actively exported out of the nucleus by XPO1, revealing a new mechanism to regulate the function of the FA protein complex
	centrosomal protein

basic FUNCTION	involved in genomic stability and control of apoptosis
	involved in blunt DNA ends joining
	protection of the genomic integrity of cells
	required to prevent accumulation of replication-associated DNA double-strand breaks
	nucleocytoplasmic shuttling molecule required for gonadotropin-releasing hormone (GNRH1) transduction of the GnRH receptor (GNRHR)
	member of the Group I Fanconi anemia proteins including also FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL
	localizes to centrosomes and is required for the maintenance of centrosome integrity, possibly through its phosphorylation at T351 by NEK2
	FANCA and FANCC modulate TLR and MAPK14-dependent expression of IL1B in macrophages
	FANCA, FANCF, FANCL, FANCD2, BRCA1, and BRCA2, are required for mitophagy

CELLULAR PROCESS	nucleotide, repair
	nucleotide, genomic integrity

PHYSIOLOGICAL PROCESS

development

text	neurogenesis

PATHWAY

metabolism

signaling

chromosome instability pathway

a component	component of a nuclear complex with FANCC, FANCF, FANCG (XRCC9, SWI/SNF complex
	integral component in the early step of homology-directed repair of DNA double-strand breaks and thereby minimizing the genomic instability
	member of the Group I Fanconi anemia proteins including also FANCM, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL
	cytoplasmic FANCA-FANCC complex was essential for NPM1 stability

INTERACTION

DNA	binds to both single-stranded (ssDNA) and double-stranded (dsDNA) DNAs

RNA

small molecule

protein	SMARCA4 in non mitosis phases for DNA repair
	BRCA1
	FANCE, FANCC, FANCG, FANCF( forming a multisubunit nuclear complex, FA complex, required for FANCD2 monoubiquitination)
	interact with BRCA1, RAD51 and the MRE11/RAD50/NBS1 complex (may be involved in the repair of DNA double-strand breaks (DSBs)
	interaction of CENPE with FANCA (CENPE and FANCA may play important roles in the functional regulation of the mitotic checkpoint signal pathway)
	C1orf86 binds to FANCA subunit and is required for stability of the complex and monoubiquitination of FANCD2
	interaction of FANCA and NEK2
	FANCA, constantly stimulates FEN1-mediated incision of both DNA and RNA flaps
	regulation of FEN1 by FANCA contributes to the maintenance of genomic stability
	RNF4-mediated polyubiquitination regulates the FANCA/BRCA pathway

cell & other

REGULATION

Phosphorylated by

at T351 by NEK2

ASSOCIATED DISORDERS

corresponding disease(s)

FANCA

related resource

Fanconi Anaemia Mutation Database

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function in leukemia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Fanca(-/-) mice (Sii-Felice, 2008)