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Aliases for MVD Gene

Aliases for MVD Gene

  • Mevalonate Diphosphate Decarboxylase 2 3 5
  • Mevalonate Pyrophosphate Decarboxylase 2 3 4
  • Mevalonate (Diphospho) Decarboxylase 2 3
  • Diphosphomevalonate Decarboxylase 2 3
  • MDDase 3 4
  • MPD 3 4
  • Mevalonate (Diphospho)Decarboxylase 4
  • EC 4.1.1.33 4
  • FP17780 3
  • POROK7 3

External Ids for MVD Gene

Previous GeneCards Identifiers for MVD Gene

  • GC16M080154
  • GC16M089686
  • GC16M088421
  • GC16M088462
  • GC16M087245
  • GC16M088718
  • GC16M074412

Summaries for MVD Gene

Entrez Gene Summary for MVD Gene

  • The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008]

GeneCards Summary for MVD Gene

MVD (Mevalonate Diphosphate Decarboxylase) is a Protein Coding gene. Diseases associated with MVD include Porokeratosis and Porokeratosis 7, Multiple Types. Among its related pathways are Sterol Regulatory Element-Binding Proteins (SREBP) signalling and Synthesis of substrates in N-glycan biosythesis. GO annotations related to this gene include protein homodimerization activity and Hsp70 protein binding.

UniProtKB/Swiss-Prot for MVD Gene

  • Performs the first committed step in the biosynthesis of isoprenes.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MVD Gene

Genomics for MVD Gene

Regulatory Elements for MVD Gene

Enhancers for MVD 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
GH16G088615 1.7 FANTOM5 ENCODE dbSUPER 12.2 +44.7 44669 5.5 HDGF PKNOX1 FOXA2 MLX CREB3L1 AGO1 SIN3A ARID4B FEZF1 DMAP1 CYBA IL17C ZC3H18 SNAI3 MVD RNF166 ZFPM1
GH16G088691 1.2 Ensembl ENCODE 12.5 -29.2 -29244 2.0 PKNOX1 MLX ARID4B DMAP1 ZNF48 SLC30A9 SP5 MXD4 MIER2 PPARG RNF166 MVD CYBA SNAI3-AS1 PIEZO1 ENSG00000259813 PIR40856
GH16G088685 1.1 ENCODE 12.4 -23.8 -23794 3.6 HDGF PKNOX1 MLX CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 CBX5 SNAI3-AS1 SNORD68 RNF166 MVD CYBA RPL13 APRT CTU2 PIEZO1 PIR40856
GH16G088621 1 dbSUPER 12.2 +41.0 40981 1.2 ATF1 PKNOX1 ARNT TCF12 ZNF121 GLIS2 GATA2 CBX5 KLF7 KLF13 CYBA SPG7 ENSG00000268218 MVD ZC3H18 SNAI3 ENSG00000260279 LOC101927863 IL17C
GH16G088622 1 dbSUPER 12.2 +41.1 41089 0.7 ATF1 PKNOX1 ARNT TCF12 ZNF121 GLIS2 GATA2 CBX5 KLF7 KLF13 CYBA SPG7 ENSG00000268218 MVD ZC3H18 SNAI3 ENSG00000260279 LOC101927863 IL17C
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MVD on UCSC Golden Path with GeneCards custom track

Promoters for MVD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000089557 61 2601 HDGF HNRNPUL1 PKNOX1 AGO1 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1

Genomic Location for MVD Gene

Chromosome:
16
Start:
88,651,935 bp from pter
End:
88,663,161 bp from pter
Size:
11,227 bases
Orientation:
Minus strand

Genomic View for MVD Gene

Genes around MVD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MVD Gene

Proteins for MVD Gene

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

    Protein Symbol:
    P53602-MVD1_HUMAN
    Recommended name:
    Diphosphomevalonate decarboxylase
    Protein Accession:
    P53602
    Secondary Accessions:
    • Q53Y65

    Protein attributes for MVD Gene

    Size:
    400 amino acids
    Molecular mass:
    43405 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for MVD Gene

neXtProt entry for MVD Gene

Post-translational modifications for MVD Gene

  • Ubiquitination at Lys22, Lys58, and posLast=179179
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MVD Gene

Domains & Families for MVD Gene

Gene Families for MVD Gene

Suggested Antigen Peptide Sequences for MVD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P53602

UniProtKB/Swiss-Prot:

MVD1_HUMAN :
  • Belongs to the diphosphomevalonate decarboxylase family.
Family:
  • Belongs to the diphosphomevalonate decarboxylase family.
genes like me logo Genes that share domains with MVD: view

Function for MVD Gene

Molecular function for MVD Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=7.4 uM for (R)-5-diphosphomevalonate {ECO:0000269 PubMed:9392419}; KM=0.32 mM for ATP {ECO:0000269 PubMed:9392419};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + (R)-5-diphosphomevalonate = ADP + phosphate + isopentenyl diphosphate + CO(2).
UniProtKB/Swiss-Prot Function:
Performs the first committed step in the biosynthesis of isoprenes.

Enzyme Numbers (IUBMB) for MVD Gene

Gene Ontology (GO) - Molecular Function for MVD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004163 diphosphomevalonate decarboxylase activity TAS --
GO:0005524 ATP binding IEA --
GO:0016829 lyase activity IEA --
GO:0016831 carboxy-lyase activity IEA --
GO:0030544 Hsp70 protein binding IPI 12646231
genes like me logo Genes that share ontologies with MVD: view
genes like me logo Genes that share phenotypes with MVD: view

Human Phenotype Ontology for MVD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for MVD

CRISPR Products

miRNA for MVD Gene

miRTarBase miRNAs that target MVD

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MVD

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MVD Gene

Localization for MVD Gene

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 MVD gene
Compartment Confidence
cytosol 5
peroxisome 2
extracellular 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MVD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 NOT peroxisome IDA 14972328
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MVD: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MVD Gene

Pathways & Interactions for MVD Gene

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

UniProtKB/Swiss-Prot P53602-MVD1_HUMAN

  • Pathway: Steroid biosynthesis; cholesterol biosynthesis.

Gene Ontology (GO) - Biological Process for MVD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006489 dolichyl diphosphate biosynthetic process TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process TAS --
GO:0008202 steroid metabolic process IEA --
genes like me logo Genes that share ontologies with MVD: view

No data available for SIGNOR curated interactions for MVD Gene

Drugs & Compounds for MVD Gene

(24) Drugs for MVD Gene - From: ClinicalTrials, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Vet_approved Pharma 0
Phosphoric acid Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Isopentenyl pyrophosphate Experimental Pharma 0
6-fluoromevalonate 5-diphosphate Pharma Competitive, Inhibitor 0

(10) Additional Compounds for MVD Gene - From: HMDB, Novoseek, and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
P-geranyl 2-fluoromevalonate 5-diphosphate
Competitive, Inhibitor
(R)-Mevalonic acid-5-pyrophosphate
  • (R)-5-Diphosphomevalonic acid
  • 1,1,3,7-Tetrahydroxy-7-methyl-2,4-Dioxa-1,3-diphosphanonan-9-oate
  • 1,1,3,7-Tetrahydroxy-7-methyl-2,4-Dioxa-1,3-diphosphanonan-9-oic acid
  • 1,1,3,7-Tetrahydroxy-7-methyl-2,4-Dioxa-1,3-diphosphanonan-9-oic acid 1,3-dioxide
  • 5-Pyrophosphomevalonate
1492-08-6
(S)-5-Diphosphomevalonic acid
  • (S)-Mevalonic acid-5-pyrophosphate
  • 1,1,3,7-Tetrahydroxy-7-methyl-2,4-dioxa-1,3-diphosphanonan-9-oate
  • 1,1,3,7-Tetrahydroxy-7-methyl-2,4-dioxa-1,3-diphosphanonan-9-oic acid
  • 1,1,3,7-Tetrahydroxy-7-methyl-2,4-dioxa-1,3-diphosphanonan-9-oic acid ion(1-)1,3-dioxide
  • 5-Diphosphomevalonate
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with MVD: view

Transcripts for MVD Gene

Unigene Clusters for MVD Gene

Mevalonate (diphospho) decarboxylase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for MVD

Flow Cytometry Products

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

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a ·
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - -
SP7: - - - - - - - - - - -
SP8: - - - - - - - - - - -
SP9: - - - -
SP10:
SP11: - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - -
SP13: - - - - - - - - - -
SP14: - - - - - - - - - -
SP15: - -
SP16: - - - -
SP17: - - -
SP18: - - - -
SP19: - - -
SP20: -

ExUns: 13b · 13c ^ 14a · 14b ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8: -
SP9: -
SP10: - -
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17: -
SP18:
SP19:
SP20:

Relevant External Links for MVD Gene

GeneLoc Exon Structure for
MVD
ECgene alternative splicing isoforms for
MVD

Expression for MVD Gene

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

Protein differential expression in normal tissues from HIPED for MVD Gene

This gene is overexpressed in Fetal testis (32.3).

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



Protein tissue co-expression partners for MVD Gene

NURSA nuclear receptor signaling pathways regulating expression of MVD Gene:

MVD

SOURCE GeneReport for Unigene cluster for MVD Gene:

Hs.252457

mRNA Expression by UniProt/SwissProt for MVD Gene:

P53602-MVD1_HUMAN
Tissue specificity: Expressed in heart, skeletal muscle, lung, liver, brain, pancreas, kidney and placenta.

Evidence on tissue expression from TISSUES for MVD Gene

  • Liver(4.4)
  • Nervous system(3.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MVD Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Organs:
Limb:
  • nail
General:
  • hair
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with MVD: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MVD Gene

Orthologs for MVD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MVD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MVD 34 35
  • 99.33 (n)
dog
(Canis familiaris)
Mammalia MVD 34 35
  • 85.25 (n)
cow
(Bos Taurus)
Mammalia MVD 34 35
  • 84.33 (n)
rat
(Rattus norvegicus)
Mammalia Mvd 34
  • 83.38 (n)
mouse
(Mus musculus)
Mammalia Mvd 34 16 35
  • 82.7 (n)
oppossum
(Monodelphis domestica)
Mammalia MVD 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MVD 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves MVD 34 35
  • 73.35 (n)
lizard
(Anolis carolinensis)
Reptilia MVD 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mvd 34
  • 65.22 (n)
LOC394871 34
zebrafish
(Danio rerio)
Actinopterygii mvda 34 35
  • 65.56 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001611 34
  • 57.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8239 36 34 35
  • 54.16 (n)
worm
(Caenorhabditis elegans)
Secernentea Y48B6A.13b 36
  • 40 (a)
Y48B6A.13 35
  • 40 (a)
OneToOne
Y48B6A.13a 36
  • 39 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL232C 34
  • 58.09 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F10285g 34
  • 50.13 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MVD1 35 37 34
  • 49.09 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G54250 34
  • 52.79 (n)
soybean
(Glycine max)
eudicotyledons Gma.7599 34
rice
(Oryza sativa)
Liliopsida Os02g0109100 34
  • 61.2 (n)
Os.10543 34
barley
(Hordeum vulgare)
Liliopsida Hv.5909 34
corn
(Zea mays)
Liliopsida Zm.14376 34
bread mold
(Neurospora crassa)
Ascomycetes NCU11381 34
  • 54.27 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mvd1 34
  • 51.05 (n)
Species where no ortholog for MVD was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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 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)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MVD Gene

ENSEMBL:
Gene Tree for MVD (if available)
TreeFam:
Gene Tree for MVD (if available)

Paralogs for MVD Gene

No data available for Paralogs for MVD Gene

Variants for MVD Gene

Sequence variations from dbSNP and Humsavar for MVD Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs144010349 Porokeratosis 7, multiple types (POROK7) [MIM:614714] 88,656,226(+) GGCTC(C/T)GGCAG reference, missense
rs200033380 Porokeratosis 7, multiple types (POROK7) [MIM:614714] 88,657,537(+) GCAGC(A/C/G)GGTCC reference, missense, utr-variant-5-prime
rs546127665 Porokeratosis 7, multiple types (POROK7) [MIM:614714] 88,652,602(+) TGGCC(C/G)CACCT upstream-variant-2KB, reference, missense
rs755948940 Pathogenic, Porokeratosis 7, multiple types (POROK7) [MIM:614714] 88,655,221(+) GGGCG(C/T)TGAAG reference, missense
rs761991070 Pathogenic, Porokeratosis 7, multiple types (POROK7) [MIM:614714] 88,655,350(+) TGGGG(A/G)AGTCT reference, missense

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

Variant ID Type Subtype PubMed ID
esv3639554 CNV loss 21293372
nsv1065973 CNV loss 25217958
nsv1926 CNV insertion 18451855
nsv471113 CNV loss 18288195
nsv482951 CNV loss 15286789
nsv833325 CNV loss 17160897
nsv952070 CNV deletion 24416366

Variation tolerance for MVD Gene

Residual Variation Intolerance Score: 75.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MVD Gene

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

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

Disorders for MVD Gene

MalaCards: The human disease database

(10) MalaCards diseases for MVD Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
porokeratosis
  • disseminated superficial actinic porokeratosis
porokeratosis 7, multiple types
  • porokeratosis 7, disseminated superficial actinic type
linear porokeratosis
  • congenital facial linear porokeratosis
punctate porokeratosis
  • porokeratosis punctata palmaris et plantaris
urethral stricture
- elite association - COSMIC cancer census association via MalaCards
Search MVD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MVD1_HUMAN
  • Porokeratosis 7, multiple types (POROK7) [MIM:614714]: A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. {ECO:0000269 PubMed:18823933, ECO:0000269 PubMed:26202976}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MVD

Genetic Association Database (GAD)
MVD
Human Genome Epidemiology (HuGE) Navigator
MVD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MVD
genes like me logo Genes that share disorders with MVD: view

No data available for Genatlas for MVD Gene

Publications for MVD Gene

  1. Molecular cloning and expression of the cDNAs encoding human and yeast mevalonate pyrophosphate decarboxylase. (PMID: 8626466) Toth M.J. … Huwyler L. (J. Biol. Chem. 1996) 2 3 4 22 64
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y. … Boer J.M. (J. Lipid Res. 2008) 3 46 64
  4. Human mevalonate diphosphate decarboxylase: characterization, investigation of the mevalonate diphosphate binding site, and crystal structure. (PMID: 18823933) Voynova N.E. … Miziorko H.M. (Arch. Biochem. Biophys. 2008) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for MVD Gene

Sources for MVD Gene

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