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    FDPS farnesyl diphosphate synthase [ Homo sapiens (human) ]

    Gene ID: 2224, updated on 3-Nov-2024

    Summary

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    Official Symbol
    FDPSprovided by HGNC
    Official Full Name
    farnesyl diphosphate synthaseprovided by HGNC
    Primary source
    HGNC:HGNC:3631
    See related
    Ensembl:ENSG00000160752 MIM:134629; AllianceGenome:HGNC:3631
    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; POROK9
    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]
    Expression
    Ubiquitous expression in liver (RPKM 72.6), duodenum (RPKM 62.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FDPS in Genome Data Viewer
    Location:
    1q22
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155308866..155320665)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154447406..154459205)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155278657..155290456)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:155243888-155244388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155254443-155254943 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:155263898-155264430 Neighboring gene CDC like kinase 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:155275791-155276290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1814 Neighboring gene hyperpolarization activated cyclic nucleotide gated potassium channel 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155291392-155292375 Neighboring gene pyruvate kinase L/R Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1815 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:155295943-155296500 Neighboring gene RUSC1 antisense RNA 1 Neighboring gene RUN and SH3 domain containing 1 Neighboring gene ASH1 like histone lysine methyltransferase Neighboring gene microRNA 555

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Association of farnesyl diphosphate synthase polymorphisms and response to alendronate treatment in Chinese postmenopausal women with osteoporosis. Liu Y, et al. Chin Med J (Engl), 2014. PMID 24534219
    2. A novel EST-derived RNAi screen reveals a critical role for farnesyl diphosphate synthase in β2-adrenergic receptor internalization and down-regulation. Jiang X, et al. FASEB J, 2012 May. PMID 22278941, Free PMC Article
    3. 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
    4. Altered expression of farnesyl pyrophosphate synthase in prostate cancer: evidence for a role of the mevalonate pathway in disease progression? Todenhöfer T, et al. World J Urol, 2013 Apr. PMID 22407328
    5. Ternary complex structures of human farnesyl pyrophosphate synthase bound with a novel inhibitor and secondary ligands provide insights into the molecular details of the enzyme's active site closure. Park J, et al. BMC Struct Biol, 2012 Dec 12. PMID 23234314, Free PMC Article

    See all (113) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Farnesyl Diphosphate Synthase Gene Associated with Loss of Bone Mass Density and Alendronate Treatment Failure in Patients with Primary Osteoporosis.
      Title: Farnesyl Diphosphate Synthase Gene Associated with Loss of Bone Mass Density and Alendronate Treatment Failure in Patients with Primary Osteoporosis.
    2. Farnesyl diphosphate synthase exacerbates nonalcoholic steatohepatitis via the activation of AHR-CD36 axis.
      Title: Farnesyl diphosphate synthase exacerbates nonalcoholic steatohepatitis via the activation of AHR-CD36 axis.
    3. Towards an Improvement of Anticancer Activity of Benzyl Adenosine Analogs.
      Title: Towards an Improvement of Anticancer Activity of Benzyl Adenosine Analogs.
    4. Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis.
      Title: Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis.
    5. A novel premature termination mutation in FDPS in a Chinese family with disseminated superficial actinic porokeratosis.
      Title: A novel premature termination mutation in FDPS in a Chinese family with disseminated superficial actinic porokeratosis.
    6. FDPS rs2297480 is associated with postmenopausal osteoporosis.
      Title: Polymorphisms of FDPS, LRP5, SOST and VKORC1 genes and their relation with osteoporosis in postmenopausal Romanian women.
    7. FDPS plays an oncogenic role in PTEN-deficient Prostate cancer through GTPase/AKT axis. Identifying mevalonate pathway proteins could serve as a therapeutic target in PTEN dysregulated tumors.
      Title: FDPS cooperates with PTEN loss to promote prostate cancer progression through modulation of small GTPases/AKT axis.
    8. Deregulated expression and activity of Farnesyl Diphosphate Synthase (FDPS) in Glioblastoma
      Title: Deregulated expression and activity of Farnesyl Diphosphate Synthase (FDPS) in Glioblastoma.
    9. Farnesyl pyrophosphate (FPP) allosterically regulated the activity of farnesyl pyrophosphate synthase.
      Title: Human farnesyl pyrophosphate synthase is allosterically inhibited by its own product.
    10. FPPS mediates TGF-beta1-induced lung cancer cell invasion and epithelial-to-mesenchymal transition via the RhoA/Rock1 pathway.
      Title: FPPS mediates TGF-β1-induced non-small cell lung cancer cell invasion and the EMT process via the RhoA/Rock1 pathway.
    Submit: New GeneRIF Correction See all GeneRIFs (36)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Porokeratosis 9, multiple types
    MedGen: C4225262 OMIM: 616631 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables dimethylallyltranstransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables geranyltranstransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cholesterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in farnesyl diphosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in farnesyl diphosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in geranyl diphosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    farnesyl pyrophosphate synthase
    Names
    (2E,6E)-farnesyl diphosphate synthase
    FPP synthase
    FPP synthetase
    farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase
    NP_001129293.1
    NP_001129294.1
    NP_001229753.1
    NP_001229754.1
    NP_001365353.1
    NP_001365354.1
    NP_001995.1

    NCBI Reference Sequences (RefSeq)

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    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.

    Genomic

    1. NG_045218.1 RefSeqGene

      Range
      5119..16918
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001135821.2 → NP_001129293.1  farnesyl pyrophosphate synthase isoform a

      See identical proteins and their annotated locations for NP_001129293.1

      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)
      AL139410, D14697, DA610405
      Consensus CDS
      CCDS1110.1
      UniProtKB/Swiss-Prot
      D3DV91, E9PCI9, P14324, Q96G29
      UniProtKB/TrEMBL
      Q14329
      Related
      ENSP00000349078.6, ENST00000356657.10
      Conserved Domains (1) summary
      pfam00348
      Location:108 → 374
      polyprenyl_synt; Polyprenyl synthetase

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

      See identical proteins and their annotated locations for NP_001129294.1

      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)
      CN346026, M29863
      Consensus CDS
      CCDS44241.1
      UniProtKB/TrEMBL
      Q14329
      Related
      ENSP00000480142.1, ENST00000467076.5
      Conserved Domains (1) summary
      pfam00348
      Location:42 → 308
      polyprenyl_synt; Polyprenyl synthetase

    3. NM_001242824.2 → NP_001229753.1  farnesyl pyrophosphate synthase isoform b

      See identical proteins and their annotated locations for NP_001229753.1

      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, BP370037
      Consensus CDS
      CCDS44241.1
      UniProtKB/TrEMBL
      Q14329
      Related
      ENSP00000391755.1, ENST00000447866.5
      Conserved Domains (1) summary
      pfam00348
      Location:42 → 308
      polyprenyl_synt; Polyprenyl synthetase

    4. NM_001242825.2 → NP_001229754.1  farnesyl pyrophosphate synthase isoform c

      See identical proteins and their annotated locations for NP_001229754.1

      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, CD675633
      Consensus CDS
      CCDS72940.1
      UniProtKB/TrEMBL
      A0A087X090
      Related
      ENSP00000483188.1, ENST00000611010.4
      Conserved Domains (1) summary
      pfam00348
      Location:1 → 202
      polyprenyl_synt; Polyprenyl synthetase

    5. NM_001378424.1 → NP_001365353.1  farnesyl pyrophosphate synthase isoform b

      Status: REVIEWED

      Source sequence(s)
      AL139410
      Consensus CDS
      CCDS44241.1
      UniProtKB/TrEMBL
      Q14329
      Related
      ENSP00000478235.1, ENST00000612683.1
      Conserved Domains (1) summary
      pfam00348
      Location:42 → 308
      polyprenyl_synt; Polyprenyl synthetase

    6. NM_001378425.1 → NP_001365354.1  farnesyl pyrophosphate synthase isoform b

      Status: REVIEWED

      Source sequence(s)
      AL139410
      Consensus CDS
      CCDS44241.1
      UniProtKB/TrEMBL
      Q14329
      Conserved Domains (1) summary
      pfam00348
      Location:42 → 308
      polyprenyl_synt; Polyprenyl synthetase

    7. NM_002004.4 → NP_001995.1  farnesyl pyrophosphate synthase isoform a

      See identical proteins and their annotated locations for NP_001995.1

      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)
      BC010004, CN346026
      Consensus CDS
      CCDS1110.1
      UniProtKB/Swiss-Prot
      D3DV91, E9PCI9, P14324, Q96G29
      UniProtKB/TrEMBL
      Q14329
      Related
      ENSP00000357340.4, ENST00000368356.9
      Conserved Domains (1) summary
      pfam00348
      Location:108 → 374
      polyprenyl_synt; Polyprenyl synthetase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      155308866..155320665
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      154447406..154459205
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P14324.4 GenPept UniProtKB/Swiss-Prot:P14324

    Gene LinkOut

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

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