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Aliases for AHRR Gene

Aliases for AHRR Gene

  • Aryl-Hydrocarbon Receptor Repressor 2 3 5
  • Class E Basic Helix-Loop-Helix Protein 77 3 4
  • AhR Repressor 3 4
  • BHLHe77 3 4
  • Aryl Hydrocarbon Hydroxylase Regulator 3
  • Aryl Hydrocarbon Receptor Regulator 2
  • Aryl Hydrocarbon Receptor Repressor 3
  • Dioxin Receptor Repressor 3
  • KIAA1234 4
  • AHHR 3
  • AhRR 4
  • AHH 3

External Ids for AHRR Gene

Previous HGNC Symbols for AHRR Gene

  • AHH
  • AHHR

Previous GeneCards Identifiers for AHRR Gene

  • GC05U990138
  • GC05P000303
  • GC02U900446
  • GC05P000357
  • GC05P000325
  • GC05P000327
  • GC05P000291

Summaries for AHRR Gene

Entrez Gene Summary for AHRR Gene

  • The protein encoded by this gene participates in the aryl hydrocarbon receptor (AhR) signaling cascade, which mediates dioxin toxicity, and is involved in regulation of cell growth and differentiation. It functions as a feedback modulator by repressing AhR-dependent gene expression. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]

GeneCards Summary for AHRR Gene

AHRR (Aryl-Hydrocarbon Receptor Repressor) is a Protein Coding gene. Diseases associated with AHRR include Endometriosis and Male Infertility. Among its related pathways are Metabolism and Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include signal transducer activity and transcriptional repressor activity, RNA polymerase II transcription factor binding. An important paralog of this gene is AHR.

UniProtKB/Swiss-Prot for AHRR Gene

  • Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the transcription activity of AHR by competing with this transcription factor for heterodimer formation with the ARNT and subsequently binding to the xenobiotic response element (XRE) sequence present in the promoter regulatory region of variety of genes. Represses CYP1A1 by binding the XRE sequence and recruiting ANKRA2, HDAC4 and/or HDAC5. Autoregulates its expression by associating with its own XRE site.

Additional gene information for AHRR Gene

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

Genomics for AHRR Gene

Regulatory Elements for AHRR Gene

Enhancers for AHRR 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
GH05H000367 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +69.2 69234 13.5 HDGF PKNOX1 ARNT ZBTB7B GLIS2 ZNF207 FOS ATF7 RUNX3 JUNB PDCD6 BRD9 CEP72 AHRR ENSG00000271781 CCDC127 SDHA HRAT5 EXOC3 EXOC3-AS1
GH05H000426 0.9 FANTOM5 23.7 +122.5 122539 0.4 HDGF PKNOX1 NFIB SUZ12 TSC22D4 ZNF704 YBX1 ZBTB7B ZKSCAN1 ZFHX2 SLC9A3-AS1 BRD9 AHRR LOC100421419 LOC100310782 LOC100128803 MTCO2P32 PDCD6 EXOC3 PIR54496
GH05H000424 1.4 FANTOM5 Ensembl dbSUPER 12.4 +120.5 120526 1 HDGF MAX BACH1 EBF1 ZIC2 ZFHX2 POLR2A EED ZNF143 ATF7 EXOC3 SLC9A3-AS1 AHRR PDCD6 EXOC3-AS1 ZDHHC11 PIR58727 GC05M000432 PIR54496
GH05H000342 0.8 ENCODE 12.1 +39.7 39742 2.7 ZSCAN4 GLIS2 KLF7 RUNX3 EGR2 ZNF202 SMARCA5 ZNF680 ZNF488 ZNF398 BRD9 EXOC3 PDCD6 LOC100421419 AHRR CCDC127 HRAT5 SDHA ENSG00000250645 GC05M000376
GH05H000337 0.7 ENCODE 12.8 +33.8 33785 0.2 CTCF SIN3A RAD21 TEAD3 CTBP1 GATA3 SMC3 ZNF143 NFE2 MAZ AHRR PDCD6 GC05M000376
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AHRR on UCSC Golden Path with GeneCards custom track

Genomic Locations for AHRR Gene

Genomic Locations for AHRR Gene
chr5:304,176-438,291
(GRCh38/hg38)
Size:
134,116 bases
Orientation:
Plus strand
chr5:304,291-438,406
(GRCh37/hg19)

Genomic View for AHRR Gene

Genes around AHRR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for AHRR Gene

Proteins for AHRR Gene

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

    Protein Symbol:
    A9YTQ3-AHRR_HUMAN
    Recommended name:
    Aryl hydrocarbon receptor repressor
    Protein Accession:
    A9YTQ3
    Secondary Accessions:
    • A7MBN5
    • D6RAZ1
    • Q9HAZ3
    • Q9ULI6

    Protein attributes for AHRR Gene

    Size:
    701 amino acids
    Molecular mass:
    76265 Da
    Quaternary structure:
    • Interacts with ARNT, ANKRA2, HDAC4 and HDAC5.
    SequenceCaution:
    • Sequence=ABX89616.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA86548.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for AHRR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AHRR Gene

Post-translational modifications for AHRR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AHRR Gene

Domains & Families for AHRR Gene

Gene Families for AHRR Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for AHRR Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AHRR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with AHRR: view

No data available for UniProtKB/Swiss-Prot for AHRR Gene

Function for AHRR Gene

Molecular function for AHRR Gene

UniProtKB/Swiss-Prot Function:
Mediates dioxin toxicity and is involved in regulation of cell growth and differentiation. Represses the transcription activity of AHR by competing with this transcription factor for heterodimer formation with the ARNT and subsequently binding to the xenobiotic response element (XRE) sequence present in the promoter regulatory region of variety of genes. Represses CYP1A1 by binding the XRE sequence and recruiting ANKRA2, HDAC4 and/or HDAC5. Autoregulates its expression by associating with its own XRE site.
UniProtKB/Swiss-Prot Induction:
By 3-methylcholanthrene (3-MC) in MNCs from adults. By the heterodimer AHR/ARNT.

Phenotypes From GWAS Catalog for AHRR Gene

Gene Ontology (GO) - Molecular Function for AHRR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001191 transcriptional repressor activity, RNA polymerase II transcription factor binding IBA --
GO:0003677 DNA binding IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with AHRR: view
genes like me logo Genes that share phenotypes with AHRR: view

Animal Models for AHRR Gene

MGI Knock Outs for AHRR:

miRNA for AHRR Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AHRR Gene

Localization for AHRR Gene

Subcellular locations from UniProtKB/Swiss-Prot for AHRR Gene

Cytoplasm. Nucleus. Note=Predominantly in the nuclear compartment. First cytoplasmic, translocates into the nuclear compartment upon interaction with ARNT in the cytoplasmic compartment.

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 AHRR gene
Compartment Confidence
nucleus 5
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AHRR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS,IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0034753 NOT nuclear aryl hydrocarbon receptor complex IBA --
genes like me logo Genes that share ontologies with AHRR: view

Pathways & Interactions for AHRR Gene

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

Gene Ontology (GO) - Biological Process for AHRR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006805 xenobiotic metabolic process TAS --
GO:0009410 response to xenobiotic stimulus IBA --
genes like me logo Genes that share ontologies with AHRR: view

No data available for SIGNOR curated interactions for AHRR Gene

Drugs & Compounds for AHRR Gene

(1) Additional Compounds for AHRR Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with AHRR: view

Transcripts for AHRR Gene

Clone Products

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

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

ExUns: 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c · 17d · 17e ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21a · 21b ^ 22 ^ 23a · 23b · 23c · 23d
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4:
SP5:
SP6:
SP7: - - -
SP8: - - -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: - - -
SP19:
SP20:

Relevant External Links for AHRR Gene

GeneLoc Exon Structure for
AHRR
ECgene alternative splicing isoforms for
AHRR

Expression for AHRR Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AHRR Gene

This gene is overexpressed in Neutrophil (46.8) and Heart (22.2).

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



Protein tissue co-expression partners for AHRR Gene

NURSA nuclear receptor signaling pathways regulating expression of AHRR Gene:

AHRR

mRNA Expression by UniProt/SwissProt for AHRR Gene:

A9YTQ3-AHRR_HUMAN
Tissue specificity: Highly expressed in testis, lung, ovary, spleen and pancreas. Highly expressed in mononuclear cells (MNCs) from umbilical cord blood. Isoform 3 is highly expressed in lung, kidney, spleen and thymus. Down-regulated malignant tissue from different anatomical origins, including colon, breast, lung, stomach, cervix, and ovary.

Evidence on tissue expression from TISSUES for AHRR Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with AHRR: view

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

Orthologs for AHRR Gene

This gene was present in the common ancestor of animals.

Orthologs for AHRR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AHRR 33
  • 97.14 (n)
mouse
(Mus musculus)
Mammalia Ahrr 16 34 33
  • 70.5 (n)
rat
(Rattus norvegicus)
Mammalia Ahrr 33
  • 70.2 (n)
dog
(Canis familiaris)
Mammalia AHRR 34
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AHRR 34
  • 53 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AHRR 34
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 12 (a)
ManyToMany
chicken
(Gallus gallus)
Aves AHRR 33 34
  • 56.6 (n)
lizard
(Anolis carolinensis)
Reptilia AHRR 34
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485488 33
  • 53.93 (n)
zebrafish
(Danio rerio)
Actinopterygii ahrrb 34
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ss 34
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ahr-1 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
OneToMany
Species where no ortholog for AHRR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 AHRR Gene

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

Paralogs for AHRR Gene

(3) SIMAP similar genes for AHRR Gene using alignment to 8 proteins:

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

Variants for AHRR Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for AHRR Gene

AHRR_HUMAN-A9YTQ3
The Ala-189 allele may be a susceptibility factor for dioxin-related male infertility. Homozygosity for Ala-189 is observed in azoospermic individuals at higher frequency than in normozoospermic individuals (PubMed:15474075, PubMed:17559847). Might also be associated with susceptibility to and severity of endometriosis.

Sequence variations from dbSNP and Humsavar for AHRR Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs769781351 Uncertain significance 434,146(+) CATGC(A/C/G)GGATG reference, missense
rs1000000532 -- 338,272(+) TAGAC(C/T)CATAC intron-variant
rs1000017652 -- 413,505(+) GTTGT(C/T)GTCAA intron-variant
rs1000043292 -- 308,459(+) TTCCA(C/G)GTTTT intron-variant
rs1000050341 -- 331,416(+) TTTTG(A/T)TTATT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv950618 CNV deletion 24416366
nsv950617 CNV deletion 24416366
nsv830184 CNV gain 17160897
nsv830183 CNV gain+loss 17160897
nsv596626 CNV gain 21841781
nsv596623 CNV gain 21841781
nsv596622 CNV loss 21841781
nsv596618 CNV loss 21841781
nsv596616 CNV gain 21841781
nsv596614 CNV gain 21841781
nsv526648 CNV gain 19592680
nsv518607 CNV gain 19592680
nsv516539 CNV gain+loss 19592680
nsv512845 CNV insertion 21212237
nsv509041 CNV insertion 20534489
nsv4673 CNV insertion 18451855
nsv4672 CNV insertion 18451855
nsv461889 CNV gain 19166990
nsv461887 CNV gain 19166990
nsv428458 CNV loss 18775914
nsv329656 CNV insertion 16902084
nsv329327 CNV deletion 16902084
nsv327676 CNV insertion 16902084
nsv327598 CNV insertion 16902084
nsv327296 CNV insertion 16902084
nsv1149431 CNV deletion 26484159
nsv1148167 CNV deletion 26484159
nsv1147234 OTHER inversion 26484159
nsv1133013 OTHER inversion 24896259
nsv1129741 CNV tandem duplication 24896259
nsv1129253 CNV insertion 24896259
nsv1126056 CNV deletion 24896259
nsv1125832 CNV tandem duplication 24896259
nsv1125247 CNV insertion 24896259
nsv1117406 CNV tandem duplication 24896259
nsv1109669 CNV deletion 24896259
nsv1074791 CNV deletion 25765185
nsv1074264 CNV deletion 25765185
nsv1074263 CNV deletion 25765185
nsv10646 CNV loss 18304495
nsv1032824 CNV gain 25217958
nsv1032584 CNV gain 25217958
nsv1030767 CNV gain 25217958
nsv1028574 CNV gain 25217958
nsv1027279 CNV gain 25217958
nsv1019215 CNV gain 25217958
esv996608 CNV insertion 20482838
esv995455 CNV deletion 20482838
esv989115 CNV insertion 20482838
esv3894107 CNV gain 25118596
esv3603746 CNV gain 21293372
esv3603745 CNV gain 21293372
esv3603744 CNV gain 21293372
esv3603743 CNV loss 21293372
esv3603742 CNV gain 21293372
esv3603741 CNV gain 21293372
esv3603740 CNV loss 21293372
esv3565297 CNV deletion 23714750
esv2861346 CNV duplication 24192839
esv2759315 CNV loss 17122850
esv2752083 CNV gain 17911159
esv2752071 CNV gain 17911159
esv27505 CNV gain 19812545
esv2674163 CNV deletion 23128226
esv2581256 CNV deletion 19546169
esv2502817 CNV insertion 19546169
esv2369327 CNV deletion 18987734
esv22707 CNV loss 19812545
esv2231288 CNV deletion 18987734
esv21507 CNV gain+loss 19812545
esv2095296 CNV deletion 18987734
esv2094113 CNV deletion 18987734
esv1997829 CNV deletion 18987734
esv1676154 CNV insertion 17803354
esv1629964 CNV insertion 17803354
esv1500777 CNV deletion 17803354
esv1484913 CNV insertion 17803354
esv1175822 CNV insertion 17803354
esv1017920 CNV insertion 17803354
dgv9478n54 CNV loss 21841781
dgv9477n54 CNV loss 21841781
dgv9476n54 CNV loss 21841781
dgv5520n100 CNV loss 25217958
dgv3184e59 CNV duplication 20981092
dgv3183e59 CNV duplication 20981092
dgv3012n106 CNV deletion 24896259
dgv3011n106 CNV deletion 24896259

Variation tolerance for AHRR Gene

Residual Variation Intolerance Score: 41.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.43; 81.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AHRR Gene

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

Disorders for AHRR Gene

MalaCards: The human disease database

(2) MalaCards diseases for AHRR Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
endometriosis
male infertility
  • infertility male
- elite association - COSMIC cancer census association via MalaCards
Search AHRR in MalaCards View complete list of genes associated with diseases

Relevant External Links for AHRR

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

No data available for UniProtKB/Swiss-Prot and Genatlas for AHRR Gene

Publications for AHRR Gene

  1. The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility. (PMID: 17559847) Merisalu A … Salumets A (Fertility and sterility 2007) 3 4 45 60
  2. Characteristic expression of aryl hydrocarbon receptor repressor gene in human tissues: organ-specific distribution and variable induction patterns in mononuclear cells. (PMID: 14672759) Yamamoto J … Hara T (Life sciences 2004) 3 4 22 60
  3. Characterization of the aryl hydrocarbon receptor repressor gene and association of its Pro185Ala polymorphism with micropenis. (PMID: 11835227) Fujita H … Kosaki K (Teratology 2002) 3 4 45 60
  4. Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2. (PMID: 21602797) Wright FA … Cutting GR (Nature genetics 2011) 3 45 60
  5. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 45 60

Products for AHRR Gene

Sources for AHRR Gene

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