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    FDPS farnesyl diphosphate synthase [ Homo sapiens ]

    Gene ID: 2224, updated on 11-May-2012
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    Summary

    Official Symbol
    FDPSprovided by HGNC
    Official Full Name
    farnesyl diphosphate synthaseprovided by HGNC
    Primary source
    HGNC:3631
    See related
    Ensembl:ENSG00000160752; HPRD:00606; MIM:134629; Vega:OTTHUMG00000013909
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FPS; FPPS
    Summary
    This gene encodes an enzyme that catalyzes the production of geranyl pyrophosphate and farnesyl pyrophosphate from isopentenyl pyrophosphate and dimethylallyl pyrophosphate. The resulting product, farnesyl pyrophosphate, is a key intermediate in cholesterol and sterol biosynthesis, a substrate for protein farnesylation and geranylgeranylation, and a ligand or agonist for certain hormone receptors and growth receptors. Drugs that inhibit this enzyme prevent the post-translational modifications of small GTPases and have been used to treat diseases related to bone resorption. Multiple pseudogenes have been found on chromosomes 1, 7, 14, 15, 21 and X. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
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    Genomic context

    Location :
    1q22
    Sequence :
    Chromosome: 1; NC_000001.10 (155278539..155290457)
    See FDPS in Epigenomics, MapViewer

    Chromosome 1 - NC_000001.10Genomic Context describing neighboring genes Neighboring gene CDC-like kinase 2 Neighboring gene hyperpolarization activated cyclic nucleotide-gated potassium channel 3 Neighboring gene pyruvate kinase, liver and RBC Neighboring gene RUSC1 antisense RNA 1 (non-protein coding) Neighboring gene RUN and SH3 domain containing 1 Neighboring gene ash1 (absent, small, or homeotic)-like (Drosophila) Neighboring gene microRNA 555

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Effects of differences in polymorphism of gene encoding enzyme faenesyl diphosphate synthase (FDPS), rs2297480, on bone mineral density and biochemical markers of bone turnover in Thai postmenopausal women. Songpatanasilp T, et al. J Med Assoc Thai, 2011 Oct. PMID 22338925.
    2. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    5. Pharmacogenetics of bisphosphonate-associated osteonecrosis of the jaw. Marini F, et al. Front Biosci (Elite Ed), 2011 Jan 1. PMID 21196316.

    See all (44) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. first study on the gene FDPS rs2297480 SNP in postmenopausal Thai women.The effect did not contribute to the baseline of bone mineral density nor bone turnover markers.
      Title: Effects of differences in polymorphism of gene encoding enzyme faenesyl diphosphate synthase (FDPS), rs2297480, on bone mineral density and biochemical markers of bone turnover in Thai postmenopausal women.
    2. The A/C rs2297480 polymorphism of FDPS was highly differently distributed among osteonecrosis-of-the-jaw patients and controls, with a correlation between AA carrier status and occurrence of ONJ after 18-24 months of treatment with bisphosphonates.
      Title: Pharmacogenetics of bisphosphonate-associated osteonecrosis of the jaw.
    3. characterized the sterol-response-element-binding protein 2 and nuclear factor Y-binding site in the farnesyl diphosphate synthase promoter
      Title: Sterol-regulatory-element-binding protein 2 and nuclear factor Y control human farnesyl diphosphate synthase expression and affect cell proliferation in hepatoblastoma cells.
    4. characterized functionally the minimal basal promoter of the human FDPS gene by means of deletion mutants and we have identified two cis-acting elements which modulate the FDPS gene expression and are recognized by Pax5 and OCT-1 transcription factors
      Title: Characterization and functional analysis of cis-acting elements of the human farnesyl diphosphate synthetase (FDPS) gene 5' flanking region.
    5. FPPS knockdown cells activated Vgamma9Vdelta2 T cells, as measured by increased levels of CD69 and CD107a, killing of FPPS knockdown cells, and induction of IFN-gamma secretion
      Title: Reduced expression of the mevalonate pathway enzyme farnesyl pyrophosphate synthase unveils recognition of tumor cells by Vgamma9Vdelta2 T cells.
    6. FDPS is involved in the resistance to zoledronic acid of osteosarcoma cells.
      Title: Farnesyl diphosphate synthase is involved in the resistance to zoledronic acid of osteosarcoma cells.
    7. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Genetic polymorphism of geranylgeranyl diphosphate synthase (GGSP1) predicts bone density response to bisphosphonate therapy in Korean women.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    9. findings suggest that a single nucleotide polymorphism in the FDPS gene (rs2297480) may be a genetic marker for lower bone mineral density in postmenopausal Caucasian women
      Title: Farnesyl diphosphate synthase: a novel genotype association with bone mineral density in elderly women.
    10. This study provides the first evidence of the presence of FPPs activity in human CRC. Moreover, FPPs enzyme was found to play a significant role in colon cancer proliferation.
      Title: Higher farnesyl diphosphate synthase activity in human colorectal cancer inhibition of cellular apoptosis.
    Submit: New GeneRIF Correction See all (11)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P14324 P54253 ATXN1    HPRD  PubMed  
    P14324 P11362 FGFR1    HPRD  PubMed  
    BioGRID:108517 BioGRID:108551 FGFR1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:108517 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108517 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the FDPS gene: The FDPS gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, S.cerevisiae, K.lactis, , S.pombe, , N.crassa, and rice.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • Cholesterol Biosynthesis, organism-specific biosystem (from WikiPathways)
      Cholesterol Biosynthesis, organism-specific biosystemCholesterol is a waxy steroid metabolite found in the cell membranes and transported in the blood plasma of all animals. It is an essential structural component of mammalian cell membranes, where it ...
    • Cholesterol biosynthesis, organism-specific biosystem (from REACTOME)
      Cholesterol biosynthesis, organism-specific biosystemCholesterol is synthesized de novo from from acetyl CoA. The overall synthetic process is outlined in the figure below. Enzymes whose regulation plays a major role in determining the rate of choleste...
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Influenza A, organism-specific biosystem (from KEGG)
      Influenza A, organism-specific biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Influenza A, conserved biosystem (from KEGG)
      Influenza A, conserved biosystemInfluenza is a contagious respiratory disease caused by influenza virus infection. Influenza A virus is responsible for both annual seasonal epidemics and periodic worldwide pandemics. Novel strains ...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Terpenoid backbone biosynthesis, organism-specific biosystem (from KEGG)
      Terpenoid backbone biosynthesis, organism-specific biosystemTerpenoids, also known as isoprenoids, are a large class of natural products consisting of isoprene (C5) units. There are two biosynthetic pathways, the mevalonate pathway [MD:M00095] and the non-mev...
    • Terpenoid backbone biosynthesis, conserved biosystem (from KEGG)
      Terpenoid backbone biosynthesis, conserved biosystemTerpenoids, also known as isoprenoids, are a large class of natural products consisting of isoprene (C5) units. There are two biosynthetic pathways, the mevalonate pathway [MD:M00095] and the non-mev...
    • superpathway of cholesterol biosynthesis, organism-specific biosystem (from BIOCYC)
      superpathway of cholesterol biosynthesis, organism-specific biosystem
      superpathway of cholesterol biosynthesis
    • superpathway of cholesterol biosynthesis, conserved biosystem (from BIOCYC)
      superpathway of cholesterol biosynthesis, conserved biosystemThe sequence of reactions in the cholesterol biosynthetic pathway may vary. This superpathway gives an overview of three possible routes of cholesterol biosynthesis. These routes exist because redu...
    • superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate), organism-specific biosystem (from BIOCYC)
      superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate), organism-specific biosystem
      superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
    • superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate), conserved biosystem (from BIOCYC)
      superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate), conserved biosystem|FRAME: GERANYLGERANYL-PP| (also known as geranylgeranyl pyrophosphate, or GGPP) is a crucial compound involved in the biosynthesis of a variety of terpenes and terpenoids, including central compound...
    • trans, trans-farnesyl diphosphate biosynthesis, organism-specific biosystem (from BIOCYC)
      trans, trans-farnesyl diphosphate biosynthesis, organism-specific biosystemGeneral Background : FARNESYL-PP (farnesyl pyrophosphate, FPP) is a crucial compound involved in the biosynthesis of a variety of terpenoids including sesquiterpenoids and sterols. Moreover, FPP is ...
    • trans, trans-farnesyl diphosphate biosynthesis, conserved biosystem (from BIOCYC)
      trans, trans-farnesyl diphosphate biosynthesis, conserved biosystemGeneral Background |FRAME: FARNESYL-PP| (farnesyl pyrophosphate, FPP) is a crucial compound involved in the biosynthesis of a variety of terpenoids including sesquiterpenoids and sterols. Moreover,...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    dimethylallyltranstransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    geranyltranstransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    cholesterol biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    interspecies interaction between organisms IEA
    Inferred from Electronic Annotation
    more info
    		  
    isoprenoid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    farnesyl pyrophosphate synthase
    Names
    farnesyl pyrophosphate synthase
    FPP synthase
    FPP synthetase
    geranyltranstransferase
    dimethylallyltranstransferase
    (2E,6E)-farnesyl diphosphate synthase
    farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase
    NP_001129293.1
    NP_001129294.1
    NP_001229753.1
    NP_001229754.1
    NP_001995.1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001135821.1 → NP_001129293.1  farnesyl pyrophosphate synthase isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      BE047993, D14697, DA610405
      Consensus CDS
      CCDS1110.1
      UniProtKB/Swiss-Prot
      P14324
      Related
      ENSP00000349078, OTTHUMP00000015807, ENST00000356657, OTTHUMT00000039053
      Conserved Domains (2) summary
      COG0142
      Location:110 – 419
      Blast Score: 394
      IspA; Geranylgeranyl pyrophosphate synthase [Coenzyme metabolism]
      cd00685
      Location:106 – 417
      Blast Score: 597
      Trans_IPPS_HT; Trans-Isoprenyl Diphosphate Synthases, head-to-tail

    2. NM_001135822.1 → NP_001129294.1  farnesyl pyrophosphate synthase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon at its 5' end and uses a downstream translation initiation codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus when compared to isoform a. Both variants 3 and 4 encode the same isoform (b).
      Source sequence(s)
      AL139410, BE047993, CN346026, M29863
      Consensus CDS
      CCDS44241.1
      UniProtKB/TrEMBL
      E9PCI9
      UniProtKB/Swiss-Prot
      P14324
      Related
      ENSP00000391755, ENST00000447866
      Conserved Domains (2) summary
      COG0142
      Location:44 – 353
      Blast Score: 380
      IspA; Geranylgeranyl pyrophosphate synthase [Coenzyme metabolism]
      cd00685
      Location:40 – 351
      Blast Score: 588
      Trans_IPPS_HT; Trans-Isoprenyl Diphosphate Synthases, head-to-tail

    3. NM_001242824.1 → NP_001229753.1  farnesyl pyrophosphate synthase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon at its 5' end and uses a downstream translation initiation codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus when compared to isoform a. Both variants 3 and 4 encode the same isoform (b).
      Source sequence(s)
      AK291084, AL139410, BE047993, BP370037
      Consensus CDS
      CCDS44241.1
      UniProtKB/TrEMBL
      E9PCI9
      UniProtKB/Swiss-Prot
      P14324
      Conserved Domains (2) summary
      COG0142
      Location:44 – 353
      Blast Score: 380
      IspA; Geranylgeranyl pyrophosphate synthase [Coenzyme metabolism]
      cd00685
      Location:40 – 351
      Blast Score: 588
      Trans_IPPS_HT; Trans-Isoprenyl Diphosphate Synthases, head-to-tail

    4. NM_001242825.1 → NP_001229754.1  farnesyl pyrophosphate synthase isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two alternate exons at its 5' end and uses a downstream translation initiation codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus when compared to isoform a.
      Source sequence(s)
      AK291084, AL139410, BE047993, CD675633
      UniProtKB/Swiss-Prot
      P14324
      Conserved Domains (1) summary
      cd00685
      Location:1 – 246
      Blast Score: 447
      Trans_IPPS_HT; Trans-Isoprenyl Diphosphate Synthases, head-to-tail

    5. NM_002004.3 → NP_001995.1  farnesyl pyrophosphate synthase isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AL139410, BC010004, BE047993, CN346026
      Consensus CDS
      CCDS1110.1
      UniProtKB/Swiss-Prot
      P14324
      Related
      ENSP00000357340, OTTHUMP00000015808, ENST00000368356, OTTHUMT00000039054
      Conserved Domains (2) summary
      COG0142
      Location:110 – 419
      Blast Score: 394
      IspA; Geranylgeranyl pyrophosphate synthase [Coenzyme metabolism]
      cd00685
      Location:106 – 417
      Blast Score: 597
      Trans_IPPS_HT; Trans-Isoprenyl Diphosphate Synthases, head-to-tail

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000001.10 Reference GRCh37.p5 Primary Assembly

      Range
      155278539..155290457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000133.1 Alternate HuRef

      Range
      126640838..126652759
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL139410.20 CAI12715.1
    genomic CH471121.2 EAW53075.1
      EAW53076.1
      EAW53077.1
      EAW53078.1
    mRNA AK021828.1 None
    mRNA AK022841.1 BAG51125.1
    mRNA AK291084.1 BAF83773.1
    mRNA BC010004.2 AAH10004.1
    mRNA BE047993.1 None
    mRNA BP370037.1 None
    mRNA CD675633.1 None
    mRNA CN346026.1 None
    mRNA D14697.1 BAA03523.2
    mRNA DA610405.1 None
    mRNA J05262.1 AAA52423.1
    mRNA M29863.1 AAA35820.1
    other-genetic DQ893471.2 ABM84397.1
    other-genetic DQ895943.2 ABM86869.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P14324.4 GenPept UniProtKB/Swiss-Prot:P14324
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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