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Aliases for PTS Gene

Aliases for PTS Gene

  • 6-Pyruvoyltetrahydropterin Synthase 2 3 5
  • PTP Synthase 3 4
  • PTPS 3 4
  • 6-Pyruvoyl Tetrahydrobiopterin Synthase 3
  • EC 4.2.3.12 4

External Ids for PTS Gene

Previous GeneCards Identifiers for PTS Gene

  • GC11P114450
  • GC11P113609
  • GC11P112130
  • GC11P111634
  • GC11P111602
  • GC11P112097
  • GC11P108022

Summaries for PTS Gene

Entrez Gene Summary for PTS Gene

  • The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia. [provided by RefSeq, Oct 2008]

GeneCards Summary for PTS Gene

PTS (6-Pyruvoyltetrahydropterin Synthase) is a Protein Coding gene. Diseases associated with PTS include Hyperphenylalaninemia, Bh4-Deficient, A and Hyperphenylalaninemia. Among its related pathways are eNOS activation and regulation and Metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and 6-pyruvoyltetrahydropterin synthase activity.

UniProtKB/Swiss-Prot for PTS Gene

  • Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.

Gene Wiki entry for PTS Gene

Additional gene information for PTS Gene

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

Genomics for PTS Gene

GeneHancer (GH) Regulatory Elements for PTS Gene

Promoters and enhancers for PTS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11I112225 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.9 1871 5.3 FOXA2 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF143 FOS SP3 PTS LOC283140 PLET1 ENSG00000255292 SDHD TIMM8B BCO2 RPS6P16
GH11I112270 Enhancer 0.7 ENCODE 12.8 +44.5 44482 0.6 ATF1 ETV1 TAL1 E4F1 TCF12 POLR2B CTBP1 ZNF316 PHF20 FOXK2 LOC283140 GC11M112270 PTS RPS12P21 RNU6-44P GC11P112339
GH11I112220 Enhancer 0.6 ENCODE 6.1 -4.6 -4553 2.3 SOX5 SOX13 STAT1 FOXA2 TEAD1 FOXA3 PPARG FOXP2 RXRB SPI1 LOC283140 PTS GC11P112220 BCO2
GH11I112240 Enhancer 0.9 ENCODE dbSUPER 0.4 +15.1 15081 2.1 SOX13 TFAP4 FOXA2 MAX ETS1 TEAD3 CTBP1 GATA3 RCOR1 ATF7 TEX12 ENSG00000255292 RNU6-44P BCO2 RPS6P16 PTS LOC100132686
GH11I112219 Enhancer 0.9 Ensembl ENCODE 0.4 -6.5 -6466 0.6 HDGF CTCF PKNOX1 ZNF2 RAD21 CC2D1A ZNF335 ARID2 ZNF207 SMC3 GC11P112220 RPS12P21 PTS BCO2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PTS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PTS gene promoter:

Genomic Locations for PTS Gene

Genomic Locations for PTS Gene
chr11:112,226,365-112,269,955
(GRCh38/hg38)
Size:
43,591 bases
Orientation:
Plus strand
chr11:112,097,088-112,140,678
(GRCh37/hg19)

Genomic View for PTS Gene

Genes around PTS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PTS Gene

Proteins for PTS Gene

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

    Protein Symbol:
    Q03393-PTPS_HUMAN
    Recommended name:
    6-pyruvoyl tetrahydrobiopterin synthase
    Protein Accession:
    Q03393
    Secondary Accessions:
    • B0YJ87
    • Q8WVG8

    Protein attributes for PTS Gene

    Size:
    145 amino acids
    Molecular mass:
    16386 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homohexamer formed of two homotrimers in a head to head fashion.
    Miscellaneous:
    • The active site is at the interface between 2 subunits. The proton acceptor Cys is on one subunit, and the charge relay system is on the other subunit.

    Three dimensional structures from OCA and Proteopedia for PTS Gene

neXtProt entry for PTS Gene

Post-translational modifications for PTS Gene

  • Phosphorylation of Ser-19 is required for maximal enzyme activity.
  • Ubiquitination at Lys29
  • Modification sites at PhosphoSitePlus

Other Protein References for PTS Gene

No data available for DME Specific Peptides for PTS Gene

Domains & Families for PTS Gene

Gene Families for PTS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PTS Gene

Suggested Antigen Peptide Sequences for PTS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q03393

UniProtKB/Swiss-Prot:

PTPS_HUMAN :
  • Belongs to the PTPS family.
Family:
  • Belongs to the PTPS family.
genes like me logo Genes that share domains with PTS: view

Function for PTS Gene

Molecular function for PTS Gene

GENATLAS Biochemistry:
6-pyruvoyl-tetrahydrobiopterin synthase,catalyzing the second step of tetrahydrobiopterin (BH4) synthesis
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=8.1 uM for 7,8-dihydroneopterin triphosphate {ECO:0000269 PubMed:10531334}; Vmax=120 nmol/min/mg enzyme {ECO:0000269 PubMed:10531334};
UniProtKB/Swiss-Prot CatalyticActivity:
7,8-dihydroneopterin 3-triphosphate = 6-pyruvoyl-5,6,7,8-tetrahydropterin + triphosphate.
UniProtKB/Swiss-Prot Function:
Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.

Enzyme Numbers (IUBMB) for PTS Gene

Gene Ontology (GO) - Molecular Function for PTS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003874 6-pyruvoyltetrahydropterin synthase activity TAS --
GO:0005515 protein binding IPI 25416956
GO:0016829 lyase activity IEA --
GO:0042802 identical protein binding IPI,IEA 16169070
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with PTS: view
genes like me logo Genes that share phenotypes with PTS: view

Human Phenotype Ontology for PTS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTS Gene

MGI Knock Outs for PTS:

miRNA for PTS Gene

Clone Products

  • Addgene plasmids for PTS

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for PTS Gene

Localization for PTS 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 PTS gene
Compartment Confidence
mitochondrion 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PTS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PTS: view

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

Pathways & Interactions for PTS Gene

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

UniProtKB/Swiss-Prot Q03393-PTPS_HUMAN

  • Pathway: Cofactor biosynthesis; tetrahydrobiopterin biosynthesis; tetrahydrobiopterin from 7,8-dihydroneopterin triphosphate: step 1/3.

SIGNOR curated interactions for PTS Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PTS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process TAS 3308682
GO:0006729 tetrahydrobiopterin biosynthetic process IEA --
GO:0007417 central nervous system development TAS 3308682
GO:0050999 regulation of nitric-oxide synthase activity TAS --
genes like me logo Genes that share ontologies with PTS: view

Drugs & Compounds for PTS Gene

(49) Drugs for PTS Gene - From: DrugBank, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Heparin Approved, Investigational Pharma Antagonist 905,282
Benzocaine Approved, Investigational Pharma 2232
Dalteparin Approved Pharma 341
Warfarin Approved Pharma 505
tannic acid Approved Nutra Channel blocker 2232

(39) Additional Compounds for PTS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
dihydroneopterin triphosphate
  • 2-Amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl) dihydropteridine triphosphate
  • 6-(L-Erythro-1,2-Dihydroxypropyl 3-triphosphate)-7,8-dihydropterin
  • 6-[(1S,2R)-1,2-Dihydroxy-3-triphosphooxypropyl]-7,8-dihydropterin
  • 7,8-Dihydroneopterin 3'-triphosphate
  • 7,8-Dihydroneopterin triphosphate
20574-65-6
2-Amino-4-oxo-6-(1',2'-dioxoprolyl)-7,8-dihydroxypteridine
  • 2-Amino-4-oxo-6-(1',2'-dioxoprolyl)-7,8-dihydroxypteridine
6-Carboxy-5,6,7,8-tetrahydropterin
Dyspropterin
  • 6-(1,2-Dioxopropyl)-5,6,7,8-tetrahydropterin
  • 6-Pyruvoyl-5,6,7,8-tetrahydropterin
  • 6-Pyruvoyl-tetrahydropterin
  • 6-Pyruvoyltetrahydropterin
  • Dyspropterin
89687-39-8
triphosphate
  • Bis(tetraoxidophosphato)dioxidophosphate(5-)
  • Catena-triphosphate
  • Inorganic triphosphate
  • Triphoshoric acid
  • Triphosphate(5-)
14127-68-5
genes like me logo Genes that share compounds with PTS: view

Transcripts for PTS Gene

Unigene Clusters for PTS Gene

6-pyruvoyltetrahydropterin synthase:
Representative Sequences:

Clone Products

  • Addgene plasmids for PTS

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

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

Relevant External Links for PTS Gene

GeneLoc Exon Structure for
PTS
ECgene alternative splicing isoforms for
PTS

Expression for PTS Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PTS Gene

This gene is overexpressed in Fetal Brain (19.5), Adrenal (11.7), Oral epithelium (11.7), and Liver (10.7).

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



NURSA nuclear receptor signaling pathways regulating expression of PTS Gene:

PTS

SOURCE GeneReport for Unigene cluster for PTS Gene:

Hs.503860

Evidence on tissue expression from TISSUES for PTS Gene

  • Liver(4.5)
  • Nervous system(4.5)
  • Pancreas(4.3)
  • Kidney(2.7)
  • Blood(2.4)
  • Heart(2.4)
  • Muscle(2.4)
  • Lymph node(2.2)
  • Adrenal gland(2)
  • Intestine(2)
  • Skin(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
  • mouth
  • pharynx
  • salivary gland
  • skull
Thorax:
  • chest wall
  • esophagus
Abdomen:
  • abdominal wall
  • kidney
  • stomach
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with PTS: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PTS Gene

Orthologs for PTS Gene

This gene was present in the common ancestor of animals.

Orthologs for PTS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTS 34 33
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PTS 33 34
  • 90.05 (n)
cow
(Bos Taurus)
Mammalia PTS 33 34
  • 86.67 (n)
rat
(Rattus norvegicus)
Mammalia Pts 33
  • 85.37 (n)
mouse
(Mus musculus)
Mammalia Pts 33 16 34
  • 83.1 (n)
oppossum
(Monodelphis domestica)
Mammalia PTS 34
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTS 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves PTS 33 34
  • 77.61 (n)
lizard
(Anolis carolinensis)
Reptilia PTS 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487259 33
  • 67.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9800 33
zebrafish
(Danio rerio)
Actinopterygii pts 33
  • 70.4 (n)
PTS 34
  • 50 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13866 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008730 33
  • 62.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta pr 35 33 34
  • 59.65 (n)
worm
(Caenorhabditis elegans)
Secernentea ptps-1 33 34
  • 59.23 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5439 34
  • 54 (a)
OneToOne
Species where no ortholog for PTS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for PTS Gene

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

Paralogs for PTS Gene

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

No data available for Paralogs for PTS Gene

Variants for PTS Gene

Sequence variations from dbSNP and Humsavar for PTS Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1040441824 BH4-deficient, A (HPABH4A) [MIM:261640] 112,233,502(+) A/G coding_sequence_variant, missense_variant
rs104894273 pathogenic, 6-pyruvoyl-tetrahydropterin synthase deficiency, Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] 112,226,517(+) G/A coding_sequence_variant, missense_variant
rs104894274 pathogenic, Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency, Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] 112,226,489(+) C/T coding_sequence_variant, missense_variant
rs104894275 pathogenic, 6-pyruvoyl-tetrahydropterin synthase deficiency, Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] 112,228,665(+) A/G coding_sequence_variant, missense_variant
rs104894276 pathogenic, 6-pyruvoyl-tetrahydropterin synthase deficiency, Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640] 112,233,178(+) C/G/T coding_sequence_variant, missense_variant

Variation tolerance for PTS Gene

Residual Variation Intolerance Score: 44.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.21; 4.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTS Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PTS Gene

Disorders for PTS Gene

MalaCards: The human disease database

(24) MalaCards diseases for PTS Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hyperphenylalaninemia, bh4-deficient, a
  • hpabh4a
hyperphenylalaninemia
  • hyperphenylalaninaemia
phenylketonuria
  • pku
breast malignant phyllodes tumor
  • cystosarcoma phyllodes
dicrocoeliasis
  • disease due to dicrocoeliidae
- elite association - COSMIC cancer census association via MalaCards
Search PTS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PTPS_HUMAN
  • Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]: An autosomal recessive disorder characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits. Neurological symptoms are unresponsive to the classic phenylalanine-low diet. {ECO:0000269 PubMed:10220141, ECO:0000269 PubMed:10531334, ECO:0000269 PubMed:10585341, ECO:0000269 PubMed:10874306, ECO:0000269 PubMed:11388593, ECO:0000269 PubMed:7493990, ECO:0000269 PubMed:7698774, ECO:0000269 PubMed:8178819, ECO:0000269 PubMed:8707300, ECO:0000269 PubMed:9159737, ECO:0000269 PubMed:9222757, ECO:0000269 PubMed:9450907}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for PTS Gene

hyperphenylalaninemia (phenylketonuria variant) with dystonia and progressive neurological degeneration (tetrahydrobiopterin BH4 synthesis deficiency)

Additional Disease Information for PTS

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

Publications for PTS Gene

  1. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PMID: 19491146) Clot F … French Dystonia Network (Brain : a journal of neurology 2009) 3 22 44 58
  2. Examination of tetrahydrobiopterin pathway genes in autism. (PMID: 19674121) Schnetz-Boutaud NC … Haines JL (Genes, brain, and behavior 2009) 3 22 44 58
  3. [Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation]. (PMID: 17407085) Ye J … Gu XF (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2007) 3 22 44 58
  4. Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS. (PMID: 10874306) Blau N … Thöny B (Human mutation 2000) 4 22 44 58
  5. Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia. (PMID: 10220141) Scherer-Oppliger T … Thöny B (Human mutation 1999) 3 4 22 58

Products for PTS Gene

  • Addgene plasmids for PTS

Sources for PTS Gene

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