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Aliases for IARS Gene

Aliases for IARS Gene

  • Isoleucyl-TRNA Synthetase 2 3 4 5
  • Isoleucine TRNA Ligase 1, Cytoplasmic 2 3
  • EC 6.1.1.5 4 56
  • ILERS 3 4
  • IRS 3 4
  • Isoleucine--TRNA Ligase, Cytoplasmic 3
  • EC 6.1.1 56
  • PRO0785 3
  • GRIDHH 3
  • IARS1 3
  • ILRS 3

External Ids for IARS Gene

Previous GeneCards Identifiers for IARS Gene

  • GC09M085799
  • GC09M086700
  • GC09M088271
  • GC09M090314
  • GC09M092052
  • GC09M094012
  • GC09M094972
  • GC09M064650

Summaries for IARS Gene

Entrez Gene Summary for IARS Gene

  • Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]

GeneCards Summary for IARS Gene

IARS (Isoleucyl-TRNA Synthetase) is a Protein Coding gene. Diseases associated with IARS include Growth Retardation, Intellectual Developmental Disorder, Hypotonia, And Hepatopathy and Hypotonia. Among its related pathways are Gene Expression and tRNA Aminoacylation. Gene Ontology (GO) annotations related to this gene include nucleotide binding and GTPase binding.

UniProtKB/Swiss-Prot for IARS Gene

  • Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.

Gene Wiki entry for IARS Gene

Additional gene information for IARS Gene

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

Genomics for IARS Gene

GeneHancer (GH) Regulatory Elements for IARS Gene

Promoters and enhancers for IARS 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
GH09I092291 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 -0.3 -260 5.1 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 IARS SNORA84 MIR3651 CENPP OGN SPTLC1 NOL8 IPPK
GH09I092323 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 54.2 -31.7 -31675 3 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 NOL8 CENPP MTND4P15 IARS LINC00475 ZNF484 SPTLC1 LOC100128076 MTCO3P29
GH09I092946 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 21.5 -653.7 -653674 1.1 HDGF ZNF473 NFIB ZSCAN4 ZNF133 SIN3A YBX1 ZNF335 GLIS2 ZNF202 FGD3 NOL8 MTND4P15 IARS PHF2 FAM120A ZNF484 LINC00475 SUSD3 MTCO3P29
GH09I093090 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.9 -801.9 -801913 9.5 HDGF PKNOX1 CLOCK ARID4B SIN3A DMAP1 ZBTB7B IRF4 YY1 POLR2B CARD19 LOC101927993 NINJ1 NOL8 IARS SUSD3 PHF2 LINC00475 IPPK
GH09I091359 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.6 +932.5 932474 2.6 CLOCK ATF1 ARNT ARID4B SIN3A ZNF48 YY1 POLR2B ZNF207 ZNF143 AUH NOL8 LINC00475 IARS MTND4P15 LINC00484 LOC100507103 GC09M091273
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around IARS on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for IARS Gene

Genomic Locations for IARS Gene
chr9:92,210,207-92,293,756
(GRCh38/hg38)
Size:
83,550 bases
Orientation:
Minus strand
chr9:94,972,489-95,056,038
(GRCh37/hg19)

Genomic View for IARS Gene

Genes around IARS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for IARS Gene

Proteins for IARS Gene

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

    Protein Symbol:
    P41252-SYIC_HUMAN
    Recommended name:
    Isoleucine--tRNA ligase, cytoplasmic
    Protein Accession:
    P41252
    Secondary Accessions:
    • A8KAE9
    • Q5TCD0
    • Q7Z3T4
    • Q9H588

    Protein attributes for IARS Gene

    Size:
    1262 amino acids
    Molecular mass:
    144498 Da
    Quaternary structure:
    • Part of a multisubunit complex that groups tRNA ligases for Arg (RARS), Asp (DARS), Gln (QARS), Ile (IARS), Leu (LARS), Lys (KARS), Met (MARS) the bifunctional ligase for Glu and Pro (EPRS) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:19131329, PubMed:19289464).
    SequenceCaution:
    • Sequence=BAA05835.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for IARS Gene

Selected DME Specific Peptides for IARS Gene

P41252:
  • GWDCHGLP
  • PVEYEIDK
  • YKAVPSW
  • DGPPFATGLPH
  • RGWFYTL
  • DQTRGWF
  • PADFIAEG
  • TPLSNFE
  • YGADALR
  • SGSMPYAQ
  • FYDGPPFA
  • WTTTPWT
  • SRNRYWGTPIP
  • HYPFENK
  • QTRGWFY
  • FMESVWWVF
  • DFDNDYKT
  • GWDCHGLPVE
  • LAGTIKD
  • DCWFESG
  • RRFGWDCHGLP
  • RYWGTPIP
  • DYKTLYP

Post-translational modifications for IARS Gene

  • Ubiquitination at isoforms=410, posLast=450450, and isoforms=868

Domains & Families for IARS Gene

Gene Families for IARS Gene

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

Suggested Antigen Peptide Sequences for IARS Gene

Graphical View of Domain Structure for InterPro Entry

P41252

UniProtKB/Swiss-Prot:

SYIC_HUMAN :
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with IARS: view

Function for IARS Gene

Molecular function for IARS Gene

GENATLAS Biochemistry:
isoleucyl-tRNA synthetase,target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-isoleucine + tRNA(Ile) = AMP + diphosphate + L-isoleucyl-tRNA(Ile).
UniProtKB/Swiss-Prot Function:
Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.

Enzyme Numbers (IUBMB) for IARS Gene

Gene Ontology (GO) - Molecular Function for IARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA --
GO:0000166 nucleotide binding IEA --
GO:0002161 aminoacyl-tRNA editing activity IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004822 isoleucine-tRNA ligase activity TAS,IEA --
genes like me logo Genes that share ontologies with IARS: view
genes like me logo Genes that share phenotypes with IARS: view

Human Phenotype Ontology for IARS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for IARS Gene

Localization for IARS Gene

Subcellular locations from UniProtKB/Swiss-Prot for IARS Gene

Cytoplasm. Cytoplasm, cytosol.

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 IARS gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 3
plasma membrane 2
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 22424946
GO:0005829 cytosol IDA,TAS --
GO:0016020 membrane HDA,IDA 16210410
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex IEA,IDA 19131329
GO:0070062 extracellular exosome HDA,IDA 20458337
genes like me logo Genes that share ontologies with IARS: view

Pathways & Interactions for IARS Gene

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

Pathways by source for IARS Gene

Gene Ontology (GO) - Biological Process for IARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation IDA,HDA 16210410
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation TAS,IEA --
GO:0006428 isoleucyl-tRNA aminoacylation IEA,IDA 8052601
GO:0006450 regulation of translational fidelity IEA --
genes like me logo Genes that share ontologies with IARS: view

No data available for SIGNOR curated interactions for IARS Gene

Drugs & Compounds for IARS Gene

(7) Drugs for IARS Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Isoleucine Approved, Investigational Nutra Target 0
Mupirocin Approved, Investigational, Vet_approved Pharma 67
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist 0

(3) Additional Compounds for IARS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8

(1) ApexBio Compounds for IARS Gene

Compound Action Cas Number
Mupirocin 12650-69-0
genes like me logo Genes that share compounds with IARS: view

Drug Products

Transcripts for IARS Gene

mRNA/cDNA for IARS Gene

(2) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for IARS Gene

Isoleucyl-tRNA synthetase:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a ·
SP1: - - -
SP2: - -
SP3: - - -
SP4: - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 21b ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b ^ 33a · 33b ^ 34 ^ 35 ^ 36a · 36b
SP1: - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - - - -
SP5:
SP6:
SP7:
SP8: -
SP9: -
SP10:

Relevant External Links for IARS Gene

GeneLoc Exon Structure for
IARS
ECgene alternative splicing isoforms for
IARS

Expression for IARS Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IARS Gene

This gene is overexpressed in Lymph node (10.3).

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



Protein tissue co-expression partners for IARS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IARS Gene:

IARS

SOURCE GeneReport for Unigene cluster for IARS Gene:

Hs.445403

mRNA Expression by UniProt/SwissProt for IARS Gene:

P41252-SYIC_HUMAN
Tissue specificity: Expressed in liver and muscle (at protein level).

Evidence on tissue expression from TISSUES for IARS Gene

  • Nervous system(4.8)
  • Liver(4.7)
  • Intestine(4.5)
  • Kidney(4.3)
  • Thyroid gland(3.5)
  • Stomach(3.2)
  • Heart(3)
  • Lung(2.9)
  • Skin(2.9)
  • Eye(2.7)
  • Pancreas(2.5)
  • Adrenal gland(2.4)
  • Muscle(2.3)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with IARS: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for IARS Gene

Orthologs for IARS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IARS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IARS 33 34
  • 99.66 (n)
cow
(Bos Taurus)
Mammalia IARS 33 34
  • 89.8 (n)
dog
(Canis familiaris)
Mammalia IARS 33 34
  • 87.43 (n)
mouse
(Mus musculus)
Mammalia Iars 33 16 34
  • 85.88 (n)
rat
(Rattus norvegicus)
Mammalia Iars 33
  • 85.62 (n)
oppossum
(Monodelphis domestica)
Mammalia IARS 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IARS 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves IARS 33 34
  • 76.26 (n)
lizard
(Anolis carolinensis)
Reptilia IARS 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia iars 33
  • 71.56 (n)
zebrafish
(Danio rerio)
Actinopterygii iars 33 34
  • 68.23 (n)
wufi46h05 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6766 33
fruit fly
(Drosophila melanogaster)
Insecta Aats-ile 35 33 34
  • 57.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002101 33
  • 56.44 (n)
worm
(Caenorhabditis elegans)
Secernentea irs-1 35
  • 59 (a)
iars-1 33 34
  • 57.22 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E20549g 33
  • 56.37 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER394W 33
  • 56 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ILS1 33 34
  • 55.56 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G10320 33
  • 58.39 (n)
rice
(Oryza sativa)
Liliopsida Os.8879 33
corn
(Zea mays)
Liliopsida Zm.12745 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 64 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes irs1 33
  • 56.12 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03575 33
  • 54.86 (n)
Species where no ortholog for IARS 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)
  • barley (Hordeum vulgare)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IARS Gene

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

Paralogs for IARS Gene

Pseudogenes.org Pseudogenes for IARS Gene

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

No data available for Paralogs for IARS Gene

Variants for IARS Gene

Sequence variations from dbSNP and Humsavar for IARS Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs764500338 pathogenic, Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 92,269,937(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs886037873 pathogenic, Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy (GRIDHH) [MIM:617093] 92,223,378(-) A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs886037874 pathogenic, Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy (GRIDHH) [MIM:617093] 92,268,295(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs886037875 pathogenic, Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 92,278,272(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs886037876 pathogenic, Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy (GRIDHH) [MIM:617093] 92,271,537(-) A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv3545129 CNV deletion 23714750
esv3621077 CNV loss 21293372
esv3891693 CNV gain 25118596
nsv1046733 CNV gain 25217958
nsv1145974 CNV duplication 26484159
nsv6615 CNV insertion 18451855

Variation tolerance for IARS Gene

Residual Variation Intolerance Score: 6.68% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.82; 79.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IARS Gene

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

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

Disorders for IARS Gene

MalaCards: The human disease database

(6) MalaCards diseases for IARS Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

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

UniProtKB/Swiss-Prot

SYIC_HUMAN
  • Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy (GRIDHH) [MIM:617093]: An autosomal recessive disorder characterized by severe growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and hepatic dysfunction. {ECO:0000269 PubMed:27426735}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IARS

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 IARS: view

No data available for Genatlas for IARS Gene

Publications for IARS Gene

  1. Human isoleucyl-tRNA synthetase: sequence of the cDNA, alternative mRNA splicing, and the characteristics of an unusually long C-terminal extension. (PMID: 7721108) Nichols RC … Plotz PH (Gene 1995) 3 4 22 58
  2. Human cytoplasmic isoleucyl-tRNA synthetase: selective divergence of the anticodon-binding domain and acquisition of a new structural unit. (PMID: 8052601) Shiba K … Noda T (Proceedings of the National Academy of Sciences of the United States of America 1994) 3 4 22 58
  3. Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. (PMID: 27426735) Kopajtich R … Staufner C (American journal of human genetics 2016) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Dissection of the structural organization of the aminoacyl-tRNA synthetase complex. (PMID: 19131329) Kaminska M … Mirande M (The Journal of biological chemistry 2009) 3 4 58

Products for IARS Gene

Sources for IARS Gene

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