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FLASH GENE
Symbol FDFT1 contributors: mct - updated : 04-09-2018
HGNC name farnesyl-diphosphate farnesyltransferase 1
HGNC id 3629
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
    RP1L1 8p23 retinitis pigmentosa 1-like 1 LOC203076 8p23.1 similar to 4930578I06Rik protein SOX7 8p22 SRY (sex determining region Y)-box 7 PINX1 8p23 SRY (sex determining region Y)-box 7 LOC389624 8 LOC389624 LOC286046 8p23.1 hypothetical protein LOC286046 C8orf5 8p22 chromosome 8 open reading frame 5 C8orf15 8p23.1 chromosome 8 open reading frame 15 C8orf6 8p23.1 chromosome 8 open reading frame 6 C8orf7 8p22 chromosome 8 open reading frame 7 LOC392193 8 similar to 60S ribosomal protein L19 LOC157740 8p23.1 hypothetical protein C8orf9 MTMR9 8p23-p22 myotubularin related protein 9 AMAC 8p22 acyl-malonyl condensing enzyme TDH 8p22 L-threonine dehydrogenase C8orf12 8p22 chromosome 8 open reading frame 12 C8orf13 8p22 chromosome 8 open reading frame 13 BLK 8p23-p22 B lymphoid tyrosine kinase C8orf14 8p22 chromosome 8 open reading frame 14 GATA4 8p23.1 GATA binding protein 4 NEIL2 8p23.1 nei like 2 (E. coli) LOC389625 8 similar to Activated RNA polymerase II transcriptional coactivator p15 (Positive cofactor 4) (PC4) (p14) FDFT1 8p23.1-p22 farnesyl-diphosphate farnesyltransferase 1 CTSB 8p22 cathepsin B LOC392194 8 similar to putative taste receptor HTR2 LOC389626 8 similar to seven transmembrane helix receptor LOC392195 8 similar to chromosome 11 open reading frame2; chromosome  11 open reading frame2 LOC344951 8p23.1 similar to seven transmembrane helix receptor LOC389627 8 similar to hypothetical protein LOC169270 LOC389628 8 hypothetical gene supported by AK096301 LOC392196 8 similar to ubiquitin-specific protease 17-like protein LOC392197 8 similar to ubiquitin-specific protease 17-like protein LOC392198 8 similar to ubiquitin-specific protease 17-like protein LOC389629 8 LOC389629 LOC389630 8 similar to FLJ10408 protein LOC392199 8 similar to Asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) LOC389631 8 LOC389631 LOC392200 8 similar to ubiquitin-specific protease 17-like protein LOC392201 8 similar to ubiquitin-specific protease 17-like protein LOC389632 8 LOC389632 LOC389633 8 similar to FLJ10408 protein MGC16279 8p23.1 hypothetical protein MGC16279 LOC389634 8 hypothetical gene supported by BC037255 LOC346708 8p23.1 similar to seven transmembrane helix receptor FLJ23749 8p23.1 hypothetical protein FLJ23749 LOC389635 8 LOC389635
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2115 48 417 - 2018 29909962
    10 - 2681 - 417 - 2018 29909962
    9 - 2483 - 417 brain 2018 29909962
    8 - 2310 - 353 - 2018 29909962
    9 - 2389 - 353 - 2018 29909962
    5 - 1705 - 250 - 2018 29909962
    8 - 2346 - 353 - 2018 29909962
    8 - 2008 - 353 - 2018 29909962
    8 - 2246 - 353 - 2018 29909962
    7 - 2248 - 476 - 2018 29909962
    7 - 2120 - 332 - 2018 29909962
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Endocrineadrenal gland   moderately
     thyroid   highly
    Skin/Tegumentskin   moderately
    Urinarybladder   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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    SystemTypeDisorderPubmed
    cancerreproductiveprostate
    potential novel target for antineoplastic intervention
    cancerlung 
    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