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FDPS farnesyl diphosphate synthase [ Homo sapiens (human) ]

Gene ID: 2224, updated on 13-Feb-2020

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
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

Genomic context

See FDPS in Genome Data Viewer
Location:
1q22
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (155308748..155320666)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155278539..155290457)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CDC like kinase 2 Neighboring gene hyperpolarization activated cyclic nucleotide gated potassium channel 3 Neighboring gene pyruvate kinase L/R 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: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
dimethylallyltranstransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
geranyltranstransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
farnesyl diphosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
farnesyl diphosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
geranyl diphosphate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
regulation of cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

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_001995.1
XP_005245019.1
XP_005245020.1
XP_024309834.1
XP_024309838.1
XP_024309839.1
XP_024309840.1
XP_024309841.1
XP_024309842.1
XP_024309844.1

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.

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
    P14324
    Related
    ENSP00000349078.6, ENST00000356657.10
    Conserved Domains (1) summary
    pfam00348
    Location:108373
    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/Swiss-Prot
    P14324
    Related
    ENSP00000480142.1, ENST00000467076.5
    Conserved Domains (1) summary
    pfam00348
    Location:42307
    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/Swiss-Prot
    P14324
    Related
    ENSP00000391755.1, ENST00000447866.5
    Conserved Domains (1) summary
    pfam00348
    Location:42307
    polyprenyl_synt; Polyprenyl synthetase
  4. NM_001242825.1NP_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, AL139410, BE047993, CD675633
    Consensus CDS
    CCDS72940.1
    UniProtKB/Swiss-Prot
    P14324
    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
  6. NM_001378425.1NP_001365354.1  farnesyl pyrophosphate synthase isoform b

    Status: REVIEWED

    Source sequence(s)
    AL139410
  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
    P14324
    Related
    ENSP00000357340.4, ENST00000368356.8
    Conserved Domains (1) summary
    pfam00348
    Location:108373
    polyprenyl_synt; Polyprenyl synthetase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    155308748..155320666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454076.1XP_024309844.1  farnesyl pyrophosphate synthase isoform X4

    Conserved Domains (1) summary
    pfam00348
    Location:1237
    polyprenyl_synt; Polyprenyl synthetase
  2. XM_024454071.1XP_024309839.1  farnesyl pyrophosphate synthase isoform X2

    Conserved Domains (1) summary
    pfam00348
    Location:42342
    polyprenyl_synt; Polyprenyl synthetase
  3. XM_024454072.1XP_024309840.1  farnesyl pyrophosphate synthase isoform X2

    Conserved Domains (1) summary
    pfam00348
    Location:42342
    polyprenyl_synt; Polyprenyl synthetase
  4. XM_024454073.1XP_024309841.1  farnesyl pyrophosphate synthase isoform X2

    Conserved Domains (1) summary
    pfam00348
    Location:42342
    polyprenyl_synt; Polyprenyl synthetase
  5. XM_005244963.1XP_005245020.1  farnesyl pyrophosphate synthase isoform X3

    UniProtKB/Swiss-Prot
    P14324
    Conserved Domains (1) summary
    pfam00348
    Location:42307
    polyprenyl_synt; Polyprenyl synthetase
  6. XM_024454070.1XP_024309838.1  farnesyl pyrophosphate synthase isoform X1

    Conserved Domains (1) summary
    pfam00348
    Location:108408
    polyprenyl_synt; Polyprenyl synthetase
  7. XM_024454066.1XP_024309834.1  farnesyl pyrophosphate synthase isoform X1

    Conserved Domains (1) summary
    pfam00348
    Location:108408
    polyprenyl_synt; Polyprenyl synthetase
  8. XM_024454074.1XP_024309842.1  farnesyl pyrophosphate synthase isoform X2

    Conserved Domains (1) summary
    pfam00348
    Location:42342
    polyprenyl_synt; Polyprenyl synthetase
  9. XM_005244962.1XP_005245019.1  farnesyl pyrophosphate synthase isoform X3

    UniProtKB/Swiss-Prot
    P14324
    Related
    ENSP00000478235.1, ENST00000612683.1
    Conserved Domains (1) summary
    pfam00348
    Location:42307
    polyprenyl_synt; Polyprenyl synthetase
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