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FLASH GENE

Symbol

FHIT

contributors: SGE/npt - updated : 16-03-2010

HGNC name	fragile histidine triad gene
HGNC id	3701

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	1502.09 kb     10 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - [D3S4482 ,D3S1300 ,D3S4474 - MTERFL - [D3S2757 - D3S4481 - HPV16I1 - D3S4489 - D3S4260 ] - D3S4483 t(3;8) - D3S1480 - cen
Authors	Wang (98)
Text	t(3;8) in renal cell carcinoma region encompassing FHIT

regionally located

encompassing the immune fragile site FRA3B

RNA

TRANSCRIPTS	type	messenger

text	multiple transcripts in normal cell lines (Tokuchi)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002012 10 - 1103 NP_002003 - 147 - - NM_001166243 - splicing 1122 NP_001159715 - 147 - -

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 Endocrine thyroid       highly Hearing/Equilibrium ear inner cochlea   highly Reproductive female system ovary     highly   female system breast mammary gland   highly Respiratory respiratory tract larynx     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

one HIT domain

mono polymer

homomer , dimer

HOMOLOGY

interspecies	homolog to murine Fhit (91.2pc)
	homolog to rattus Fhit (88.4pc)

Homologene

FAMILY

histidine triad gene family

CATEGORY

enzyme , tumor suppressor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	dinucleoside 5', 5'' - P1, P3 - triphosphate Ap3A hydrolase
	may be a tumor suppressor gene in relation to induction of apoptosis and cell cycle alteration and by interacting with microtubules and tubulin (see DLEC1)
	playing a key role in the balance of proliferation / survival / apoptosis signals
	has a major role in regulating beta-catenin-mediated gene transcription (Weiske 2007)
	controls the invasive phenotype of lung tumor cells by regulating the expression of genes associated with epithelial-mesenchymal transition (Joannes 2010)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

purine/pyrimidine

signaling

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	Mg2+
	Mn2+

protein

UBE2I for the cell cycle control

cell & other

REGULATION

Other

phosphorylated in liver and kidney

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function in colorectal adenomas and in testicular germ cell tumor with metastasis tumoral fusion       with TRC8 in the translocation t(3;8) associated with clear cell renal carcinoma constitutional   LOH     in patients with idiopathic pulmonary fibrosis without lung carcinoma tumoral   translocation     t(3;20) (p14;p20) in breast cancer tumoral       loss of function in periocular sebaceous gland carcinomas

Susceptibility

to Muir-Torr syndrome to autism spectrum disorder to breakage that could contribute to lung carcinogenesis (increased by active cigarette smoking)

Variant & Polymorphism other	de novo copy number variant in autism spectrum disorder

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS