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Aliases for GGPS1 Gene

Aliases for GGPS1 Gene

  • Geranylgeranyl Diphosphate Synthase 1 2 3 5
  • (2E,6E)-Farnesyl Diphosphate Synthase 3 4
  • Farnesyl Diphosphate Synthase 3 4
  • Dimethylallyltranstransferase 3 4
  • Farnesyltranstransferase 3 4
  • Geranyltranstransferase 3 4
  • GGPP Synthase 3 4
  • GGPPSase 3 4
  • Geranylgeranyl Pyrophosphate Synthase 3
  • 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 Osteogenesis Imperfecta, Type V. Among its related pathways are Metabolism and Terpenoid backbone biosynthesis. GO annotations related to this gene include dimethylallyltranstransferase activity and geranyltranstransferase activity.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for GGPS1 Gene

Genomics for GGPS1 Gene

Regulatory Elements for GGPS1 Gene

Enhancers for GGPS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H234968 1.9 FANTOM5 ENCODE dbSUPER 59.1 -348.3 -348334 21 MLX FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ARID4B GGPS1 RPS21P1 IRF2BP2 LOC102724100 TBCE LOC105373206 LOC101927851 ENSG00000230404 TARBP1
GH01H236062 2 FANTOM5 Ensembl ENCODE dbSUPER 32.2 +738.6 738582 6 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ARID4B ENSG00000273058 HEATR1 RPS21P1 GGPS1 MTR ENSG00000230325 NID1 LYST LGALS8
GH01H235862 2 FANTOM5 Ensembl ENCODE dbSUPER 22.7 +538.3 538301 6 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 ZNF2 ZNF143 ZNF207 ENSG00000273058 ARID4B RPS21P1 ENSG00000230325 MTR HEATR1 TBCE LYST GGPS1 RNU6-968P
GH01H235304 1.6 FANTOM5 Ensembl ENCODE dbSUPER 27.7 -22.1 -22101 2 PKNOX1 FEZF1 ZNF121 GATA3 ZNF600 PRDM10 NR2F6 RCOR1 TCF7L2 RFX1 ARID4B GGPS1 RBM34 GC01M235309 RPL23AP23
GH01H234714 2.1 FANTOM5 Ensembl ENCODE dbSUPER 19.7 -605.7 -605735 14 MLX FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ARID4B RPS21P1 IRF2BP2 TBCE LOC102724100 LOC105373206 GGPS1 ENSG00000230404 ENSG00000228830 B3GALNT2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GGPS1 on UCSC Golden Path with GeneCards custom track

Promoters for GGPS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000022246 950 4201 ZFP64 FEZF1 YY1 ZNF416 ZNF143 SP3 NFYC ZNF610 GLIS1 NBN

Genomic Location for GGPS1 Gene

Chromosome:
1
Start:
235,327,350 bp from pter
End:
235,344,532 bp from pter
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 isoforms=17 and posLast=113113
  • Modification sites at PhosphoSitePlus

Other Protein References for GGPS1 Gene

Antibody Products

  • Cloud-Clone Corp. Antibodies for GGPS1

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

Suggested Antigen Peptide Sequences for GGPS1 Gene

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

GENATLAS Biochemistry:
geranylgeranyl diphosphate synthase 1,with two isoforms,ubiquitously expressed
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};
UniProtKB/Swiss-Prot CatalyticActivity:
Dimethylallyl diphosphate + isopentenyl diphosphate = diphosphate + geranyl diphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
Geranyl diphosphate + isopentenyl diphosphate = diphosphate + (2E,6E)-farnesyl diphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
(2E,6E)-farnesyl diphosphate + isopentenyl diphosphate = diphosphate + geranylgeranyl diphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Subject to product inhibition by geranylgeranyl diphosphate.
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.

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 TAS --
GO:0004311 farnesyltranstransferase activity IEA,IDA 9741684
GO:0004337 geranyltranstransferase activity TAS --
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for GGPS1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GGPS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 2
nucleus 2
mitochondrion 1
peroxisome 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zoledronic acid Approved Pharma Inhibition, Inhibitor, inhibitor, Target Potent nitrogen-containing bisphosphonates, Osteoclast function modifiers (important in bone metastasis) 297
Zometa Approved August 2001/ Approved February 2002 Pharma 0
Phosphoric acid Approved Pharma 0
geranylgeranyl diphosphate Experimental Pharma Feedback inhibition, Inhibitor, Target 0
Isopentenyl pyrophosphate Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Farnesyl pyrophosphate
  • (2E,6E)-Farnesyl diphosphate
  • (2E,6E)-Farnesyl pyrophosphate
  • (all-E)-Farnesyl diphosphate
  • (E,E)-Farnesyl diphosphate
  • (E,E)-Farnesyl pyrophosphate
13058-04-3
Geranylgeranyl-PP
  • 2-trans,6-trans,10-trans-Geranylgeranyl diphosphate
  • 3,7,11,15-Tetramethyl-2,6,10,14-hexadecatetraenyl diphosphate
  • All-trans-geranyl-geranyl-pp
  • Geranylgeranyl-diphosphate
  • Geranylgeranyl-PP
Geranyl-PP
  • (2E)-3,7-dimethylocta-2,6-dien-1-yl trihydrogen diphosphate
  • Geranyl diphosphate
  • Geranyl-diphosphate
  • Geranyl-PP
  • Geranyl-pyrophosphate
763-10-0
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with GGPS1: view

Transcripts for GGPS1 Gene

Unigene Clusters for GGPS1 Gene

Geranylgeranyl diphosphate synthase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GGPS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
GGPS1

Expression for GGPS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for GGPS1 Gene



Protein tissue co-expression partners for GGPS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GGPS1 Gene:

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

Primer Products

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 33 34
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia GGPS1 33 34
  • 94.11 (n)
oppossum
(Monodelphis domestica)
Mammalia GGPS1 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GGPS1 33 34
  • 93.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GGPS1 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ggps1 33 16 34
  • 88.56 (n)
rat
(Rattus norvegicus)
Mammalia Ggps1 33
  • 88.56 (n)
chicken
(Gallus gallus)
Aves GGPS1 33 34
  • 81.32 (n)
lizard
(Anolis carolinensis)
Reptilia GGPS1 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ggps1 33
  • 76.91 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7664 33
zebrafish
(Danio rerio)
Actinopterygii ggps1 33 34
  • 71.17 (n)
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006894 33
  • 55.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta qm 33 34 35
  • 54.83 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23299g 33
  • 53.18 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BTS1 34 36 33
  • 52.77 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL238C 33
  • 51.74 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01427 33
  • 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)

Paralogs for GGPS1 Gene

No data available for Paralogs for GGPS1 Gene

Variants for GGPS1 Gene

Sequence variations from dbSNP and Humsavar for GGPS1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000029341 -- 235,327,792(+) CTGAC(A/C)CTGGC intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000185772 -- 235,336,246(+) GTTAG(C/G)TGGGC intron-variant
rs1000211747 -- 235,329,709(+) TGGTT(G/T)TCTCC intron-variant, upstream-variant-2KB
rs1000299929 -- 235,337,598(+) CTAAT(-/AAA)TAATA intron-variant
rs1000555238 -- 235,327,514(+) AGGGC(C/T)CCGGA intron-variant, upstream-variant-2KB

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)

Relevant External Links for GGPS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GGPS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GGPS1 Gene

Disorders for GGPS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GGPS1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type v
  • osteogenesis imperfecta type 5
- elite association - COSMIC cancer census association via MalaCards
Search GGPS1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for GGPS1

Human Genome Epidemiology (HuGE) Navigator
GGPS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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

  1. Identification of the GGPS1 genes encoding geranylgeranyl diphosphate synthases from mouse and human. (PMID: 10101267) Kainou T … Kawamukai M (Biochimica et biophysica acta 1999) 2 3 4 22 60
  2. Human geranylgeranyl diphosphate synthase: isolation of the cDNA, chromosomal mapping and tissue expression. (PMID: 9741684) Ericsson J … Edwards PA (Journal of lipid research 1998) 2 3 4 22 60
  3. Human geranylgeranyl diphosphate synthase. cDNA cloning and expression. (PMID: 10026212) Kuzuguchi T … Ogura K (The Journal of biological chemistry 1999) 3 4 22 60
  4. Genetic polymorphism of geranylgeranyl diphosphate synthase (GGSP1) predicts bone density response to bisphosphonate therapy in Korean women. (PMID: 20191015) Choi HJ … Shin CS (Yonsei medical journal 2010) 3 22 60
  5. Human geranylgeranyl diphosphate synthase is an octamer in solution. (PMID: 17646172) Miyagi Y … Sagami H (Journal of biochemistry 2007) 3 22 60

Products for GGPS1 Gene

Sources for GGPS1 Gene

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