This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transc... See more...

Aliases for GGPS1 Gene

Aliases for GGPS1 Gene

  • Geranylgeranyl Diphosphate Synthase 1 2 3 5
  • Geranylgeranyl Pyrophosphate Synthase 3 4
  • (2E,6E)-Farnesyl Diphosphate Synthase 3 4
  • Dimethylallyltranstransferase 3 4
  • Farnesyl Diphosphate Synthase 3 4
  • Farnesyltranstransferase 3 4
  • Geranyltranstransferase 3 4
  • GGPP Synthase 3 4
  • GGPPSase 3 4
  • Geranylgeranyl Diphosphate Synthase 4
  • EC 2.5.1.29 4
  • EC 2.5.1.10 4
  • EC 2.5.1.- 4
  • EC 2.5.1.1 4
  • GGPPS1 3
  • GGPPS 3

External Ids for GGPS1 Gene

Previous GeneCards Identifiers for GGPS1 Gene

  • GC01P233624
  • GC01P230945
  • GC01P231787
  • GC01P232533
  • GC01P231816
  • GC01P233558
  • GC01P235490
  • GC01P205940

Summaries for GGPS1 Gene

Entrez Gene Summary for GGPS1 Gene

  • This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, both protein-coding and non-protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010]

GeneCards Summary for GGPS1 Gene

GGPS1 (Geranylgeranyl Diphosphate Synthase 1) is a Protein Coding gene. Diseases associated with GGPS1 include Lung Cancer and Ischemic Bone Disease. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Metabolism. Gene Ontology (GO) annotations related to this gene include dimethylallyltranstransferase activity and geranyltranstransferase activity. An important paralog of this gene is PDSS1.

UniProtKB/Swiss-Prot Summary for GGPS1 Gene

  • Catalyzes the trans-addition of the three molecules of IPP onto DMAPP to form geranylgeranyl pyrophosphate, an important precursor of carotenoids and geranylated proteins.

Gene Wiki entry for GGPS1 Gene

Additional gene information for GGPS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GGPS1 Gene

Genomics for GGPS1 Gene

GeneHancer (GH) Regulatory Elements for GGPS1 Gene

Promoters and enhancers for GGPS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GGPS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GGPS1

Top Transcription factor binding sites by QIAGEN in the GGPS1 gene promoter:
  • HOXA9
  • HOXA9B
  • IRF-7A
  • Sox9
  • YY1

Genomic Locations for GGPS1 Gene

Genomic Locations for GGPS1 Gene
chr1:235,327,350-235,344,532
(GRCh38/hg38)
Size:
17,183 bases
Orientation:
Plus strand
chr1:235,490,665-235,507,847
(GRCh37/hg19)
Size:
17,183 bases
Orientation:
Plus strand

Genomic View for GGPS1 Gene

Genes around GGPS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GGPS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GGPS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GGPS1 Gene

Proteins for GGPS1 Gene

  • Protein details for GGPS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95749-GGPPS_HUMAN
    Recommended name:
    Geranylgeranyl pyrophosphate synthase
    Protein Accession:
    O95749
    Secondary Accessions:
    • A8MVQ8
    • Q5T2C8
    • Q6NW19

    Protein attributes for GGPS1 Gene

    Size:
    300 amino acids
    Molecular mass:
    34871 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homohexamer; trimer of homodimers.

    Three dimensional structures from OCA and Proteopedia for GGPS1 Gene

    Alternative splice isoforms for GGPS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GGPS1 Gene

Post-translational modifications for GGPS1 Gene

  • Ubiquitination at Lys17 and Lys113
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GGPS1 Gene

Domains & Families for GGPS1 Gene

Gene Families for GGPS1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GGPS1 Gene

Blocks:
  • Polyprenyl synthetase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GGPS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59463, highly similar to Geranylgeranyl pyrophosphate synthetase (A8MVQ8_HUMAN)
  • Geranyltranstransferase (GGPPS_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95749

UniProtKB/Swiss-Prot:

GGPPS_HUMAN :
  • Belongs to the FPP/GGPP synthase family.
Family:
  • Belongs to the FPP/GGPP synthase family.
genes like me logo Genes that share domains with GGPS1: view

Function for GGPS1 Gene

Molecular function for GGPS1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the trans-addition of the three molecules of IPP onto DMAPP to form geranylgeranyl pyrophosphate, an important precursor of carotenoids and geranylated proteins.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dimethylallyl diphosphate + isopentenyl diphosphate = (2E)-geranyl diphosphate + diphosphate; Xref=Rhea:RHEA:22408, ChEBI:CHEBI:33019, ChEBI:CHEBI:57623, ChEBI:CHEBI:58057, ChEBI:CHEBI:128769; EC=2.5.1.1; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2E)-geranyl diphosphate + isopentenyl diphosphate = (2E,6E)-farnesyl diphosphate + diphosphate; Xref=Rhea:RHEA:19361, ChEBI:CHEBI:33019, ChEBI:CHEBI:58057, ChEBI:CHEBI:128769, ChEBI:CHEBI:175763; EC=2.5.1.10; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(2E,6E)-farnesyl diphosphate + isopentenyl diphosphate = all-trans-geranylgeranyl diphosphate + diphosphate; Xref=Rhea:RHEA:17653, ChEBI:CHEBI:33019, ChEBI:CHEBI:58756, ChEBI:CHEBI:128769, ChEBI:CHEBI:175763; EC=2.5.1.29; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Subject to product inhibition by geranylgeranyl diphosphate.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3 uM for isopentenyl diphosphate {ECO:0000269 PubMed:16698791}; KM=4.2 uM for farnesyl diphosphate {ECO:0000269 PubMed:16698791};
GENATLAS Biochemistry:
geranylgeranyl diphosphate synthase 1,with two isoforms,ubiquitously expressed

Enzyme Numbers (IUBMB) for GGPS1 Gene

Phenotypes From GWAS Catalog for GGPS1 Gene

Gene Ontology (GO) - Molecular Function for GGPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004161 dimethylallyltranstransferase activity IEA --
GO:0004311 farnesyltranstransferase activity IDA,IEA 9741684
GO:0004337 geranyltranstransferase activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with GGPS1: view
genes like me logo Genes that share phenotypes with GGPS1: view

Animal Models for GGPS1 Gene

MGI Knock Outs for GGPS1:
  • Ggps1 Ggps1<tm1b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for GGPS1

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GGPS1 Gene

Localization for GGPS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GGPS1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GGPS1 gene
Compartment Confidence
cytosol 5
plasma membrane 3
nucleus 3
extracellular 2
mitochondrion 2
peroxisome 2
endoplasmic reticulum 2
golgi apparatus 2
cytoskeleton 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for GGPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with GGPS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GGPS1 Gene

Pathways & Interactions for GGPS1 Gene

genes like me logo Genes that share pathways with GGPS1: view

UniProtKB/Swiss-Prot O95749-GGPPS_HUMAN

  • Pathway: Isoprenoid biosynthesis; farnesyl diphosphate biosynthesis; farnesyl diphosphate from geranyl diphosphate and isopentenyl diphosphate: step 1/1.
  • Pathway: Isoprenoid biosynthesis; geranyl diphosphate biosynthesis; geranyl diphosphate from dimethylallyl diphosphate and isopentenyl diphosphate: step 1/1.
  • Pathway: Isoprenoid biosynthesis; geranylgeranyl diphosphate biosynthesis; geranylgeranyl diphosphate from farnesyl diphosphate and isopentenyl diphosphate: step 1/1.

Gene Ontology (GO) - Biological Process for GGPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006695 cholesterol biosynthetic process TAS --
GO:0006720 isoprenoid metabolic process IDA 10026212
GO:0008299 isoprenoid biosynthetic process IEA --
GO:0033384 geranyl diphosphate biosynthetic process IEA --
GO:0033386 geranylgeranyl diphosphate biosynthetic process IEA --
genes like me logo Genes that share ontologies with GGPS1: view

No data available for SIGNOR curated interactions for GGPS1 Gene

Drugs & Compounds for GGPS1 Gene

(30) Drugs for GGPS1 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zoledronic Acid Approved Pharma Inhibition, Inhibitor, Target, inhibitor Potent nitrogen-containing bisphosphonates, Potent farnesyl diphosphate (FPP) synthase inhibitor, Osteoclast function modifiers (important in bone metastasis) 326
Phosphoric acid Approved Pharma 0
geranylgeranyl diphosphate Experimental Pharma Feedback inhibition, Inhibitor, Target 0
farnesyl diphosphate Experimental Pharma Agonist, Antagonist, Target 0
Isopentenyl pyrophosphate Experimental Pharma Target 0

(5) Additional Compounds for GGPS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Geranylgeranyl-PP
  • all-trans-Geranylgeranyl diphosphate
  • all-trans-Geranylgeranyl pyrophosphate
  • Geranylgeranyl diphosphate
  • Geranylgeranyl pyrophosphate
  • GGDP
Geranyl-PP
  • Geranyl pyrophosphate
  • Geranyl pyrophosphoric acid
  • (2E)-3,7-Dimethylocta-2,6-dien-1-yl trihydrogen diphosphate
  • Geranyl diphosphate
  • Geranyl-diphosphate
763-10-0
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with GGPS1: view

Transcripts for GGPS1 Gene

mRNA/cDNA for GGPS1 Gene

5 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GGPS1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f
SP1: - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - -
SP4: - - - - -
SP5: - -
SP6:
SP7: - - - - -
SP8: - - - -
SP9: -

Relevant External Links for GGPS1 Gene

GeneLoc Exon Structure for
GGPS1

Expression for GGPS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GGPS1 Gene

Protein differential expression in normal tissues from HIPED for GGPS1 Gene

This gene is overexpressed in Skin (11.3), Lymph node (7.4), and Uterus (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GGPS1 Gene



Protein tissue co-expression partners for GGPS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GGPS1

SOURCE GeneReport for Unigene cluster for GGPS1 Gene:

Hs.730768

mRNA Expression by UniProt/SwissProt for GGPS1 Gene:

O95749-GGPPS_HUMAN
Tissue specificity: Abundantly expressed in testis. Found in other tissues to a lower extent.

Evidence on tissue expression from TISSUES for GGPS1 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Kidney(4.3)
  • Heart(4.2)
  • Spleen(4.2)
genes like me logo Genes that share expression patterns with GGPS1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GGPS1 Gene

Orthologs for GGPS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GGPS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GGPS1 31 30
  • 99.67 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GGPS1 31 30
  • 94.11 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GGPS1 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GGPS1 31 30
  • 93.67 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GGPS1 31
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ggps1 17 31 30
  • 88.56 (n)
rat
(Rattus norvegicus)
Mammalia Ggps1 30
  • 88.56 (n)
chicken
(Gallus gallus)
Aves GGPS1 31 30
  • 81.32 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GGPS1 31
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ggps1 30
  • 76.91 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7664 30
zebrafish
(Danio rerio)
Actinopterygii ggps1 31 30
  • 71.17 (n)
OneToOne
-- 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006894 30
  • 55.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta qm 31 32 30
  • 54.83 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23299g 30
  • 53.18 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BTS1 33 31 30
  • 52.77 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL238C 30
  • 51.74 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01427 30
  • 53.77 (n)
Species where no ortholog for GGPS1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GGPS1 Gene

ENSEMBL:
Gene Tree for GGPS1 (if available)
TreeFam:
Gene Tree for GGPS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GGPS1: view image

Paralogs for GGPS1 Gene

Paralogs for GGPS1 Gene

genes like me logo Genes that share paralogs with GGPS1: view

Variants for GGPS1 Gene

Additional dbSNP identifiers (rs#s) for GGPS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GGPS1 Gene

Variant ID Type Subtype PubMed ID
dgv30n21 CNV gain 19592680
esv3589191 CNV loss 21293372
nsv1013571 CNV gain 25217958

Variation tolerance for GGPS1 Gene

Residual Variation Intolerance Score: 48.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GGPS1 Gene

Human Gene Mutation Database (HGMD)
GGPS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GGPS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GGPS1 Gene

Disorders for GGPS1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GGPS1 Gene - From: LncRNADisease and DISEASES

Disorder Aliases PubMed IDs
lung cancer
  • adenocarcinoma of lung
ischemic bone disease
pelizaeus-merzbacher disease
  • pmd
porokeratosis
  • porokeratosis of mibelli
bone resorption disease
  • bone resorption
- elite association - COSMIC cancer census association via MalaCards
Search GGPS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GGPS1

genes like me logo Genes that share disorders with GGPS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GGPS1 Gene

Publications for GGPS1 Gene