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FLASH GENE

Symbol

FDFT1

contributors: mct - updated : 04-09-2018

HGNC name	farnesyl-diphosphate farnesyltransferase 1
HGNC id	3629

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FDFT1D FDFT1 deficiency (squalene synthase deficiency)
Location	8p23.1      Physical location : 11.660.189 - 11.696.817
Synonym name	squalene synthase
	FPP:FPP farnesyltransferase
	presqualene-di-diphosphate synthase
Synonym symbol(s)	DGPT, ERG9, SQS, SS
EC.number	2.5.1.21

DNA

TYPE	functioning gene
STRUCTURE	43.74 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Physical map

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004462 8 - 2115 NP_004453 48 417 - 2018 29909962 NM_001287742 10 - 2681 NP_001274671 - 417 - 2018 29909962 NM_001287743 9 - 2483 NP_001274672 - 417 brain 2018 29909962 NM_001287744 8 - 2310 NP_001274673 - 353 - 2018 29909962 NM_001287745 9 - 2389 NP_001274674 - 353 - 2018 29909962 NM_001287756 5 - 1705 NP_001274685 - 250 - 2018 29909962 NM_001287747 8 - 2346 NP_001274676 - 353 - 2018 29909962 NM_001287748 8 - 2008 NP_001274677 - 353 - 2018 29909962 NM_001287749 8 - 2246 NP_001274678 - 353 - 2018 29909962 NM_001287750 7 - 2248 NP_001274679 - 476 - 2018 29909962 NM_001287751 7 - 2120 NP_001274680 - 332 - 2018 29909962

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 Endocrine adrenal gland       moderately   thyroid       highly Skin/Tegument skin       moderately Urinary bladder       highly

cell lineage
cell lines
fluid/secretion	predominantly in blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

monomer

HOMOLOGY

interspecies	homolog to rattus Fdft1 (86.2 pc)
	homolog to murine Fdft1 (88.6 pc)

Homologene

FAMILY

phytoene/squalene synthetase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	multi-pass membrane protein

basic FUNCTION	involved in the cholesterol biosynthetic pathway (first step)
	enzyme that determines the switch toward sterol biosynthesis
	in prostate cancer cells its expression is enhanced by androgens, channeling intermediates of the mevalonate/isoprenoid pathway toward cholesterol synthesis
	plays an important role in the cholesterol biosynthesis pathway as it is responsible for the flow of metabolites into either the sterol or the non-sterol branches of the pathway
	may be involved in the etiology of hypercholesterolemia
	key enzyme for endogenous cholesterol production, in the neural stem and progenitor cells of the ventricular zone (VZ)
	plays a role in barrier permeability and integrity
	may play an important role in prostate cancer development and its aggressive phenotypes
	divalent metal-ion-dependent enzyme that catalyzes the two-step reductive `head-to-head' condensatio

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

lipid/lipoprotein

signaling

	terpene metabolism
	lanosterol biosynthesis
	cholesterol biosynthesis
	steroid biosynthesis

a component

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor, nucleotide,
	Mg2+
	NADP

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

FDFT1D

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in congenital heart disease tumoral     --over   significantly associated with poor prognosis among patients with lung cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	ABHD5, PGRMC1 and FDFT1 are novel markers for sebaceous carcinoma and can reliably distinguish sebaceous neoplasms from non-sebaceous tumors, specifically basal cell carcinoma (BCC) with clear cell features
Therapy target
	System Type Disorder Pubmed cancer reproductive prostate potential novel target for antineoplastic intervention cancer lung   targeting FDFT1 may have considerable potential as a novel therapeutic strategy to treat metastatic lung cancer

ANIMAL & CELL MODELS

	mutant murine embryos exhibited a reduced brain size due to the atrophy of the neuronal layers, and died at birth
	Fdft1-null mice demonstrate embryonic lethality at day 12.5 in conjunction with growth restriction and neurodevelopmental disorders