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FDPS farnesyl diphosphate synthase [ Homo sapiens (human) ]

Gene ID: 2224, updated on 7-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (155308866..155320665)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (154447406..154459205)
105.20220307 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
  • 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. Towards an Improvement of Anticancer Activity of Benzyl Adenosine Analogs. Covelli V, et al. Molecules, 2021 Nov 25. PMID 34885721, Free PMC Article
  2. A novel premature termination mutation in FDPS in a Chinese family with disseminated superficial actinic porokeratosis. Zhu PQ, et al. Br J Dermatol, 2019 Jun. PMID 30561051
  3. Deregulated expression and activity of Farnesyl Diphosphate Synthase (FDPS) in Glioblastoma. Abate M, et al. Sci Rep, 2017 Oct 26. PMID 29075041, Free PMC Article
  4. Crystallographic and thermodynamic characterization of phenylaminopyridine bisphosphonates binding to human farnesyl pyrophosphate synthase. Park J, et al. PLoS One, 2017. PMID 29036218, Free PMC Article
  5. Human farnesyl pyrophosphate synthase is allosterically inhibited by its own product. Park J, et al. Nat Commun, 2017 Jan 18. PMID 28098152, Free PMC Article

See all (105) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. Towards an Improvement of Anticancer Activity of Benzyl Adenosine Analogs.
    Title: Towards an Improvement of Anticancer Activity of Benzyl Adenosine Analogs.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Deregulated expression and activity of Farnesyl Diphosphate Synthase (FDPS) in Glioblastoma
    Title: Deregulated expression and activity of Farnesyl Diphosphate Synthase (FDPS) in Glioblastoma.
  8. Farnesyl pyrophosphate (FPP) allosterically regulated the activity of farnesyl pyrophosphate synthase.
    Title: Human farnesyl pyrophosphate synthase is allosterically inhibited by its own product.
  9. 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.
  10. Crystallographic and thermodynamic characterization of phenylaminopyridine bisphosphonates binding to human farnesyl pyrophosphate synthase
    Title: Crystallographic and thermodynamic characterization of phenylaminopyridine bisphosphonates binding to human farnesyl pyrophosphate synthase.
Submit: New GeneRIF Correction See all GeneRIFs (35)

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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

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_2023_10

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

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