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FLASH GENE

Symbol

FOXF1

contributors: mct/npt - updated : 07-04-2014

HGNC name	forkhead box F1
HGNC id	3809

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ACDMPV alveolar capillary dysplasia with misalignment of pulmonary veins
Location	16q24.1      Physical location : 86.544.132 - 86.548.069
Synonym name	forkhead, drosophila, homolog-like 5
	transcription factor-like 5
Synonym symbol(s)	FREAC1, FKHL5, MGC105125

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
text	arranged in tandem with FOXC2, FOXL1
STRUCTURE	3.94 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

text structure

a CGG repeat in 5'utr

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001451 2 - 2579 NP_001442 - 379 - Stankiewicz (2009)

EXPRESSION

Type	restricted

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       stomach         Reproductive female system uterus cervix       male system prostate       Respiratory lung         Urinary kidney

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

lung

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a forkhead (FH, winged helix) domain
	two loops-wings on the C-terminal side of helix-turn-helix homeo domain

HOMOLOGY

interspecies

homolog to Drosophila homeo fork head DNA binding domain

Homologene

FAMILY

HNF-3 forkhead family of transcriptional activator

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	embryonic transcriptional regulator of pulmonary genes
	playing a crucial role in lung and intrinsic pulmonary vascular development (Stankiewicz 2009)
	with FOXL1, are mediators of the Hh (endoderm) to mesoderm signaling pathway (Madison 2009)
	mesenchymal target of hedgehog signaling, known to regulate mesenchymal-epithelial interactions during lung development
	potential tumor suppressor gene with an essential role in preventing DNA rereplication to maintain genomic stability, which is frequently inactivated in breast cancer through the epigenetic mechanism
	is required for normal development of gastrointestinal smooth muscle
	FOXF1 and SRF synergistically activate the telokin promoter and FOXF1 promotes SRF-myocardin binding
	in smooth muscle cells is required for the development and normal physiological function of the gastrointestinal tract
	is not only important for visceral smooth muscle development but also for maintaining expression of contractile proteins in adult gastrointestinal smooth muscle tissues

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	HOXA13 directly regulates TEK and FOXF1 in the placental labyrinth endothelia
	directly binds to and activates the telokin (MYLK) promoter
	also directly binds to serum response factor (SRF) and myocardin-related transcription factors (MRTFs)
	FOXF1 and FOXQ1 directly bind to distinct regions of MYOCD

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ACDMPV

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral         predominantly silenced in breast and colorectal cancer cell lines with inactive T53¨

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Foxf1 heterozygous mice display abnormalities in lung and gallbladder development
	Foxf1 deletion from smooth muscle cells causes esophageal defects in newborn mice