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FLASH GENE
Symbol FDPS contributors: mct/npt - updated : 08-06-2009
HGNC name farnesyl diphosphate synthase (farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase)
HGNC id 3631
Location 1q22      Physical location : 155.278.538 - 155.290.457
Synonym name
  • farnesyl diphosphate synthase
  • FPP synthetase
    • Synonym symbol(s) FPS, FPPS, KIAA1293
    EC.number 2.5.1.1, 2.5.1.10
    DNA
    TYPE functioning gene
    STRUCTURE 11.71 kb     11 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (TATA box)
    Binding site   transcription factor   HRE
    text structure two cis-acting elements which modulate the FDPS gene expression and are recognized by Pax5 and OCT-1 transcription factors (Romanelli 2009)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text variants 1 and 2 encode the same isoform
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 1555 48.1 419 - Krisans (1994), Romanelli (2009)
  • containing an N-terminal extension of 66 AAs is destined to the mitochondria
    • - - 1357 40.4 353 - Romanelli (2009)
    detected preferentially into the peroxisomes
    - - 1500 48.1 419 - Romanelli (2009)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • FPP/GGPP synthetase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,peroxisome
    text
  • predominantly localized in peroxisomes (Krisans 1994)
  • mitochondrial targeting may be widespread among eukaryotes (Martin 2007)
    • basic FUNCTION
  • catalyses the formation of a key cellular intermediate in isoprenoid metabolic pathways (Reilly 2002)
  • also playing a role in fibroblast growth factor (FGF)-mediated signaling, and may function as a modulator of the cellular response to FGF treatment (Reilly 2002)
  • key enzyme in the isoprenoid pathway responsible for cholesterol biosynthesis, post-translational protein modifications and synthesis of steroid hormones (Romanelli 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by N-containing bisphosphonates, such as risendronate, but not by clodronate, supporting a different mechanism of action for different bisphosphonates (Bergstrom 2000)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    in the hepatic tissue of patients with peroxisomal disorders such as Zellweger disease and neonatal adrenoleukodystrophy (Romanelli 2009)
    Susceptibility to lower BMD in postmenopausal Caucasian women
    Variant & Polymorphism SNP (rs2297480) may be a genetic marker for lower BMD in postmenopausal Caucasian women (Levy 2007)
    Candidate gene
    Marker
    Therapy target selective target of alendronate in the mevalonate pathway (Bergstrom 2000)
    ANIMAL & CELL MODELS