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Aliases for DNM1 Gene

Aliases for DNM1 Gene

  • Dynamin 1 2 3 5
  • DNM 3 4
  • EC 3.6.5.5 4
  • Dynamin-1 3
  • EIEE31 3

External Ids for DNM1 Gene

Previous HGNC Symbols for DNM1 Gene

  • DNM

Previous GeneCards Identifiers for DNM1 Gene

  • GC09P122080
  • GC09P122612
  • GC09P124419
  • GC09P126342
  • GC09P126343
  • GC09P128045
  • GC09P130005
  • GC09P130965
  • GC09P100579

Summaries for DNM1 Gene

Entrez Gene Summary for DNM1 Gene

  • This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for DNM1 Gene

DNM1 (Dynamin 1) is a Protein Coding gene. Diseases associated with DNM1 include Epileptic Encephalopathy, Early Infantile, 31 and Lennox-Gastaut Syndrome. Among its related pathways are EGF/EGFR Signaling Pathway and CXCR3-mediated signaling events. Gene Ontology (GO) annotations related to this gene include GTP binding. An important paralog of this gene is DNM2.

UniProtKB/Swiss-Prot for DNM1 Gene

  • Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes. Involved in receptor-mediated endocytosis.

Tocris Summary for DNM1 Gene

  • GTPases are a group of enzymes that catalyze hydrolysis of the gamma phosphate bond in guanine triphosphate (GTP) to form guanine diphosphate (GDP). Mg2+ ions are essential for catalytic activity. GTPases, often coupled to G proteins, are essential in signal transduction.

Gene Wiki entry for DNM1 Gene

Additional gene information for DNM1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNM1 Gene

Genomics for DNM1 Gene

GeneHancer (GH) Regulatory Elements for DNM1 Gene

Promoters and enhancers for DNM1 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
GH09J128203 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 667.4 +12.3 12268 2.3 HDGF ARNT SIN3A ZNF2 YY1 E2F8 ZNF207 ZNF143 SP3 REST DNM1 CIZ1 GLE1 NUP188 NAIF1 URM1
GH09J128190 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.5 500 3.7 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF207 CIZ1 DNM1 SNORA65 CDK9 NUP188 SPOUT1 URM1 ZNF79 NAIF1 GOLGA2
GH09J128191 Enhancer 0.7 ENCODE dbSUPER 650.7 -1.5 -1498 0.2 CTCF GATA3 ZNF384 REST DNM1 CIZ1 GC09P128173
GH09J128096 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 11 -90.8 -90782 9 HDGF PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC25A25 NAIF1 PTGES2 CIZ1 ZNF79 PTGES2-AS1 NUP188 SLC25A25-AS1 LCN2 C9orf16
GH09J128770 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11 +580.0 579960 2.7 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 ZNF143 SP3 NFYC ZC3H11A ZER1 NUP188 CDK9 LOC101929314 ENSG00000272696 ENSG00000272593 SPOUT1 GLE1 SPTAN1 CERCAM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNM1 gene promoter:

Genomic Locations for DNM1 Gene

Genomic Locations for DNM1 Gene
chr9:128,191,655-128,255,249
(GRCh38/hg38)
Size:
63,595 bases
Orientation:
Plus strand
chr9:130,965,658-131,017,527
(GRCh37/hg19)

Genomic View for DNM1 Gene

Genes around DNM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNM1 Gene

Proteins for DNM1 Gene

  • Protein details for DNM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05193-DYN1_HUMAN
    Recommended name:
    Dynamin-1
    Protein Accession:
    Q05193
    Secondary Accessions:
    • A6NLM6
    • Q5SYX0
    • Q5SYX2
    • Q6P3T6
    • Q86VD2

    Protein attributes for DNM1 Gene

    Size:
    864 amino acids
    Molecular mass:
    97408 Da
    Quaternary structure:
    • Interacts with CAV1 and SH3GLB1. Binds SH3GL1, SH3GL2 and SH3GL3 (By similarity). Interacts with PHOCN. Interacts with PACSIN1, PACSIN2 and PACSIN3 (By similarity). Interacts with SNX9. Interacts with MYO1E (via SH3 domain). Interacts with SNX33 (via SH3 domain). Interacts with UNC119; leading to a decrease of DNM1 GTPase activity (By similarity). Interacts with DIAPH1 (PubMed:23325789).
    SequenceCaution:
    • Sequence=AAA02805.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DNM1 Gene

    Alternative splice isoforms for DNM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNM1 Gene

Post-translational modifications for DNM1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DNM1 Gene

Domains & Families for DNM1 Gene

Gene Families for DNM1 Gene

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

Suggested Antigen Peptide Sequences for DNM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q05193

UniProtKB/Swiss-Prot:

DYN1_HUMAN :
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
genes like me logo Genes that share domains with DNM1: view

Function for DNM1 Gene

Molecular function for DNM1 Gene

UniProtKB/Swiss-Prot Function:
Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Most probably involved in vesicular trafficking processes. Involved in receptor-mediated endocytosis.
UniProtKB/Swiss-Prot CatalyticActivity:
GTP + H(2)O = GDP + phosphate.
GENATLAS Biochemistry:
dynamin 1,100kDa,GTP binding protein,expressed in the brain,involved in early stage of clathrin-mediated endocytosis and formation of synaptic vesicles

Enzyme Numbers (IUBMB) for DNM1 Gene

Phenotypes From GWAS Catalog for DNM1 Gene

Gene Ontology (GO) - Molecular Function for DNM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0003924 GTPase activity IEA,IBA --
GO:0005515 protein binding IPI 9148966
GO:0005525 GTP binding IEA --
GO:0008017 microtubule binding IBA --
genes like me logo Genes that share ontologies with DNM1: view
genes like me logo Genes that share phenotypes with DNM1: view

Human Phenotype Ontology for DNM1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNM1 Gene

MGI Knock Outs for DNM1:

Animal Model Products

  • Taconic Biosciences Mouse Models for DNM1

miRNA for DNM1 Gene

miRTarBase miRNAs that target DNM1

Clone Products

  • Addgene plasmids for DNM1

No data available for Transcription Factor Targets and HOMER Transcription for DNM1 Gene

Localization for DNM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNM1 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Note=Microtubule-associated.

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 DNM1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 4
mitochondrion 4
cytosol 3
golgi apparatus 3
peroxisome 2
endosome 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DNM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IEA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA,IEA --
GO:0005794 Golgi apparatus IEA --
genes like me logo Genes that share ontologies with DNM1: view

Pathways & Interactions for DNM1 Gene

genes like me logo Genes that share pathways with DNM1: view

SIGNOR curated interactions for DNM1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for DNM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000266 mitochondrial fission IBA --
GO:0002031 G-protein coupled receptor internalization IEA --
GO:0003374 dynamin family protein polymerization involved in mitochondrial fission IBA --
GO:0006897 endocytosis TAS 16648839
GO:0006898 receptor-mediated endocytosis IMP 10521508
genes like me logo Genes that share ontologies with DNM1: view

Drugs & Compounds for DNM1 Gene

(10) Drugs for DNM1 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Salirasib Investigational Pharma Inhibitor of active Ras protein, Ras inhibitor; also induces autophagy 0

(6) Additional Compounds for DNM1 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
ESI 09
263707-16-0

(4) Tocris Compounds for DNM1 Gene

Compound Action Cas Number
8-CPT-2Me-cAMP, sodium salt Selective Epac activator 634207-53-7
8-pCPT-2-O-Me-cAMP-AM Selective Epac activator; cell-permeable analog of 8CPT-2Me-cAMP (Cat. No. 1645) 1152197-23-3
ESI 09 EPAC inhibitor 263707-16-0
Salirasib Ras inhibitor; also induces autophagy 162520-00-5

(2) ApexBio Compounds for DNM1 Gene

Compound Action Cas Number
Dynasore Dynamin and GTPase inhibitor 304448-55-3
Mdivi 1 Selective DRP1/Dnm1 inhibitor, cell-permeable 338967-87-6
genes like me logo Genes that share compounds with DNM1: view

Drug Products

Transcripts for DNM1 Gene

Unigene Clusters for DNM1 Gene

Dynamin 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for DNM1

Alternative Splicing Database (ASD) splice patterns (SP) for DNM1 Gene

No ASD Table

Relevant External Links for DNM1 Gene

GeneLoc Exon Structure for
DNM1
ECgene alternative splicing isoforms for
DNM1

Expression for DNM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DNM1 Gene

This gene is overexpressed in Brain - Cortex (x7.9), Brain - Frontal Cortex (BA9) (x6.9), Brain - Anterior cingulate cortex (BA24) (x5.6), Brain - Cerebellar Hemisphere (x4.9), and Brain - Cerebellum (x4.9).

Protein differential expression in normal tissues from HIPED for DNM1 Gene

This gene is overexpressed in Brain (37.6) and Frontal cortex (21.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNM1 Gene



NURSA nuclear receptor signaling pathways regulating expression of DNM1 Gene:

DNM1

SOURCE GeneReport for Unigene cluster for DNM1 Gene:

Hs.522413

Evidence on tissue expression from TISSUES for DNM1 Gene

  • Nervous system(5)
  • Blood(4.5)
  • Heart(2.6)
  • Kidney(2.5)
  • Muscle(2.5)
  • Eye(2.2)
  • Adrenal gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNM1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with DNM1: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for DNM1 Gene

Orthologs for DNM1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DNM1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNM1 34 33
  • 98.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DNM1 34 33
  • 93.43 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 93 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Dnm1 33
  • 92.5 (n)
dog
(Canis familiaris)
Mammalia DNM1 34 33
  • 92.25 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dnm1 16 34 33
  • 90.94 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DNM1 34
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 96 (a)
ManyToMany
DNM1 33
  • 82.45 (n)
zebrafish
(Danio rerio)
Actinopterygii dnm1a 34
  • 90 (a)
ManyToMany
dnm1b 33
  • 76.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003018 33
  • 66.06 (n)
fruit fly
(Drosophila melanogaster)
Insecta shi 35 33
  • 65.89 (n)
worm
(Caenorhabditis elegans)
Secernentea dyn-1 35 33
  • 62.44 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MGM1 36
rice
(Oryza sativa)
Liliopsida Os.19079 33
barley
(Hordeum vulgare)
Liliopsida Hv.13156 33
Species where no ortholog for DNM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • 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)
  • lizard (Anolis carolinensis)
  • 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)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DNM1 Gene

ENSEMBL:
Gene Tree for DNM1 (if available)
TreeFam:
Gene Tree for DNM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNM1: view image

Paralogs for DNM1 Gene

Paralogs for DNM1 Gene

(5) SIMAP similar genes for DNM1 Gene using alignment to 2 proteins:

  • DYN1_HUMAN
  • H7C5U0_HUMAN
genes like me logo Genes that share paralogs with DNM1: view

Variants for DNM1 Gene

Sequence variations from dbSNP and Humsavar for DNM1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1007155416 likely-benign, Epileptic encephalopathy, early infantile, 31 128,250,836(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs1057518655 likely-pathogenic, Epileptic encephalopathy, early infantile, 31 128,219,128(+) GAT/GATGAT coding_sequence_variant, inframe_insertion, non_coding_transcript_variant
rs111534551 benign, not specified, Epileptic encephalopathy, early infantile, 31 128,246,486(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs115623280 benign, likely-benign, not specified, not provided 128,247,952(+) C/T genic_downstream_transcript_variant, intron_variant
rs116335289 benign, likely-benign, not specified, not provided 128,247,906(+) G/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DNM1 Gene

Variant ID Type Subtype PubMed ID
nsv831728 CNV loss 17160897
nsv951772 CNV deletion 24416366
nsv972807 CNV duplication 23825009

Variation tolerance for DNM1 Gene

Residual Variation Intolerance Score: 11.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.16; 51.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNM1 Gene

Human Gene Mutation Database (HGMD)
DNM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNM1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNM1 Gene

Disorders for DNM1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for DNM1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DNM1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DYN1_HUMAN
  • Epileptic encephalopathy, early infantile, 31 (EIEE31) [MIM:616346]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269 PubMed:25262651, ECO:0000269 PubMed:25533962, ECO:0000269 PubMed:27476654}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DNM1

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 DNM1: view

No data available for Genatlas for DNM1 Gene

Publications for DNM1 Gene

  1. Detection of genetic association and a functional polymorphism of dynamin 1 gene with nicotine dependence in European and African Americans. (PMID: 18987626) Xu Q … Li MD (Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2009) 3 22 44 58
  2. SNX9 regulates dynamin assembly and is required for efficient clathrin-mediated endocytosis. (PMID: 15703209) Soulet F … Schmid SL (Molecular biology of the cell 2005) 3 4 22 58
  3. Assignment of the dynamin-1 gene (DNM1) to human chromosome 9q34 by fluorescence in situ hybridization and somatic cell hybrid analysis. (PMID: 9143509) Newman-Smith ED … van der Bliek AM (Genomics 1997) 2 3 22 58
  4. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. (PMID: 25262651) EuroEPINOMICS-RES Consortium … Epi4K Consortium (American journal of human genetics 2014) 3 4 58
  5. Membrane insertion of the pleckstrin homology domain variable loop 1 is critical for dynamin-catalyzed vesicle scission. (PMID: 19776347) Ramachandran R … Schmid SL (Molecular biology of the cell 2009) 3 22 58

Products for DNM1 Gene

Sources for DNM1 Gene

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