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FDPS farnesyl diphosphate synthase [ Homo sapiens (human) ]

Gene ID: 2224, updated on 10-Dec-2024

Summary

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

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

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding PubMed 
enables dimethylallyltranstransferase activity  
enables geranyltranstransferase activity  
enables metal ion binding  
enables protein binding PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm  
located_in cytosol PubMed 
located_in cytosol  
located_in mitochondrial matrix PubMed 
located_in nucleoplasm  
located_in peroxisome PubMed 

General protein information

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_001135821.2NP_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:108374
    polyprenyl_synt; Polyprenyl synthetase
  2. NM_001135822.2NP_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:42308
    polyprenyl_synt; Polyprenyl synthetase
  3. NM_001242824.2NP_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:42308
    polyprenyl_synt; Polyprenyl synthetase
  4. NM_001242825.2NP_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:1202
    polyprenyl_synt; Polyprenyl synthetase
  5. NM_001378424.1NP_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:42308
    polyprenyl_synt; Polyprenyl synthetase
  6. NM_001378425.1NP_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:42308
    polyprenyl_synt; Polyprenyl synthetase
  7. NM_002004.4NP_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:108374
    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)
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