FDPS
Farnesyl pyrophosphate synthase
Also known as: FPPS_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P14324
- Gene
- FDPS
- Ensembl
- ENSG00000160752
- Chromosome
- 1
- Canonical length
- 419 aa
- Protein class
- Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
419 residues, UniProt reviewed canonical sequence.
>P14324|FDPS
1 MPLSRWLRSV GVFLLPAPYW APRERWLGSL RRPSLVHGYP VLAWHSARCW CQAWTEEPRA
61 LCSSLRMNGD QNSDVYAQEK QDFVQHFSQI VRVLTEDEMG HPEIGDAIAR LKEVLEYNAI
121 GGKYNRGLTV VVAFRELVEP RKQDADSLQR AWTVGWCVEL LQAFFLVADD IMDSSLTRRG
181 QICWYQKPGV GLDAINDANL LEACIYRLLK LYCREQPYYL NLIELFLQSS YQTEIGQTLD
241 LLTAPQGNVD LVRFTEKRYK SIVKYKTAFY SFYLPIAAAM YMAGIDGEKE HANAKKILLE
301 MGEFFQIQDD YLDLFGDPSV TGKIGTDIQD NKCSWLVVQC LQRATPEQYQ ILKENYGQKE
361 AEKVARVKAL YEELDLPAVF LQYEEDSYSH IMALIEQYAA PLPPAVFLGL ARKIYKRRKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FDPS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 333 nTPM
Expression across tissuesHPA
Tissue
- liver: 333 nTPM
- adrenal gland: 177 nTPM
- duodenum: 158 nTPM
- esophagus: 140 nTPM
- skin: 103 nTPM
- rectum: 97 nTPM
Single-cell type
- epididymal principal cells: 806 nCPM
- colonocytes: 713 nCPM
- esophageal apical cells: 654 nCPM
- esophageal suprabasal cells: 535 nCPM
- breast lactating cells: 497 nCPM
- alveolar cells type 2: 466 nCPM
Immune cell
- total PBMC: 135 nTPM
- eosinophil: 124 nTPM
- NK-cell: 116 nTPM
- T-reg: 114 nTPM
- memory B-cell: 103 nTPM
- myeloid DC: 96 nTPM
Brain region
- pons: 106 nTPM
- hypothalamus: 77 nTPM
- medulla oblongata: 77 nTPM
- midbrain: 73 nTPM
- cerebellum: 67 nTPM
- thalamus: 56 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FDPS.
Disease | AllUniProt
Conditions FDPS is implicated in, by any mechanism.
- Porokeratosis 9, multiple types (POROK9) MIM:616631
Disease | GeneticClinVar
5 pathogenic / likely-pathogenic of 99 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Porokeratosis 9, multiple types
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.63
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 1.09
- DepMap mean gene effect
- -0.67
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cholesterol biosynthetic process
- farnesyl diphosphate biosynthetic process
- geranyl diphosphate biosynthetic process
Molecular functions
- (2E,6E)-farnesyl diphosphate synthase activity
- dimethylallyltranstransferase activity
- metal ion binding
- RNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Polyprenyl synthetase-like
- Isoprenoid synthase domain superfamily
- Polyprenyl synthetase, conserved site
- Polyprenyl synthetase
- Farnesyl pyrophosphate synthase-like
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FDPS in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FDPS as an antibody target. Whether an autoantibody or antibody against FDPS could matter depends on whether native FDPS is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FDPS is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label FDPS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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