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Aliases for GAS8 Gene

Aliases for GAS8 Gene

  • Growth Arrest Specific 8 2 3 5
  • Growth Arrest-Specific Protein 11 3 4
  • Growth Arrest-Specific Protein 8 3 4
  • GAS-11 3 4
  • GAS11 3 4
  • DRC4 3 4
  • Dynein Regulatory Complex Subunit 4 3
  • Growth Arrest-Specific 11 2
  • CILD33 3
  • GAS-8 4

External Ids for GAS8 Gene

Previous HGNC Symbols for GAS8 Gene

  • GAS11

Previous GeneCards Identifiers for GAS8 Gene

  • GC16P091073
  • GC16P089787
  • GC16P089828
  • GC16P089831
  • GC16P088613
  • GC16P090089
  • GC16P075780

Summaries for GAS8 Gene

Entrez Gene Summary for GAS8 Gene

  • This gene includes 11 exons spanning 25 kb and maps to a region of chromosome 16 that is sometimes deleted in breast and prostrate cancer. The second intron contains an apparently intronless gene, C16orf3, that is transcribed in the opposite orientation. This gene is a putative tumor suppressor gene. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

GeneCards Summary for GAS8 Gene

GAS8 (Growth Arrest Specific 8) is a Protein Coding gene. Diseases associated with GAS8 include Ciliary Dyskinesia, Primary, 33. Among its related pathways are ERK Signaling and Akt Signaling. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding.

UniProtKB/Swiss-Prot for GAS8 Gene

  • Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Plays an important role in the assembly of the N-DRC linker (By similarity). Plays dual roles at both the primary (or non-motile) cilia to regulate hedgehog signaling and in motile cilia to coordinate cilia movement. Required for proper motile cilia functioning (PubMed:26387594, PubMed:27120127, PubMed:27472056). Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh) signaling pathway by faciltating the trafficking of SMO into the cilium and the stimulation of SMO activity in a GRK2-dependent manner (By similarity).

Additional gene information for GAS8 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GAS8 Gene

Genomics for GAS8 Gene

GeneHancer (GH) Regulatory Elements for GAS8 Gene

Promoters and enhancers for GAS8 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
GH16J090018 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 666.3 +1.5 1476 5.3 HDGF PKNOX1 CLOCK FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 DBNDD1 GAS8 DEF8 PRDM7 ACSF3 ANKRD11 SNORD68 URAHP GAS8-AS1 TUBB3
GH16J089993 Enhancer 1.5 Ensembl ENCODE dbSUPER 31.5 -24.4 -24382 3.5 HDGF PKNOX1 CLOCK FOXA2 ARNT ZFP64 ARID4B SIN3A ZNF2 ZBTB7B PIR44838 AFG3L1P ENSG00000259877 ANKRD11 MC1R ACSF3 TCF25 LOC101927863 ENSG00000268218 SNORD68
GH16J089480 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.5 -532.9 -532875 12 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 ZNF548 ANKRD11 ZC3H18 AFG3L1P SPG7 ZNF778 TCF25 MC1R ENSG00000259877 RPL13 RNU6-430P
GH16J089503 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.6 -512.6 -512646 6.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 SPG7 LOC101927863 AFG3L1P MC1R ANKRD11 ZC3H18 ENSG00000268218 TCF25 RPL13 ENSG00000259877
GH16J090035 Enhancer 0.5 ENCODE 54.5 +16.4 16446 1.1 ZNF23 USF1 SIN3A USF2 PRDM10 ZBTB17 GAS8 ENSG00000259877 GC16P090043 GAS8-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GAS8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GAS8 gene promoter:
  • SREBP-1c
  • SREBP-1b
  • SREBP-1a
  • Spz1
  • GATA-1
  • HOXA3
  • GATA-2
  • Sp1
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for GAS8 Gene

Genomic Locations for GAS8 Gene
chr16:90,019,629-90,044,975
(GRCh38/hg38)
Size:
25,347 bases
Orientation:
Plus strand
chr16:90,086,037-90,111,383
(GRCh37/hg19)
Size:
25,347 bases
Orientation:
Plus strand

Genomic View for GAS8 Gene

Genes around GAS8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAS8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAS8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAS8 Gene

Proteins for GAS8 Gene

  • Protein details for GAS8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95995-DRC4_HUMAN
    Recommended name:
    Dynein regulatory complex subunit 4
    Protein Accession:
    O95995
    Secondary Accessions:
    • B2RCT1
    • B7Z4U1
    • G3V1L5
    • Q2M234

    Protein attributes for GAS8 Gene

    Size:
    478 amino acids
    Molecular mass:
    56356 Da
    Quaternary structure:
    • Component of the nexin-dynein regulatory complex (N-DRC). Interacts with microtubules (By similarity). Interacts with SMO (PubMed:21659505). Interacts (via coiled-coil domains) with RAB3B (in GTP-bound form) (By similarity).

    Alternative splice isoforms for GAS8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GAS8 Gene

Post-translational modifications for GAS8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GAS8 Gene

Domains & Families for GAS8 Gene

Gene Families for GAS8 Gene

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

Protein Domains for GAS8 Gene

Blocks:
InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O95995

UniProtKB/Swiss-Prot:

DRC4_HUMAN :
  • Belongs to the DRC4 family.
Family:
  • Belongs to the DRC4 family.
genes like me logo Genes that share domains with GAS8: view

Function for GAS8 Gene

Molecular function for GAS8 Gene

UniProtKB/Swiss-Prot Function:
Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Plays an important role in the assembly of the N-DRC linker (By similarity). Plays dual roles at both the primary (or non-motile) cilia to regulate hedgehog signaling and in motile cilia to coordinate cilia movement. Required for proper motile cilia functioning (PubMed:26387594, PubMed:27120127, PubMed:27472056). Positively regulates ciliary smoothened (SMO)-dependent Hedgehog (Hh) signaling pathway by faciltating the trafficking of SMO into the cilium and the stimulation of SMO activity in a GRK2-dependent manner (By similarity).

Phenotypes From GWAS Catalog for GAS8 Gene

Gene Ontology (GO) - Molecular Function for GAS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 21659505
GO:0008017 microtubule binding IEA,ISS --
GO:0017137 Rab GTPase binding IEA,IBA --
genes like me logo Genes that share ontologies with GAS8: view
genes like me logo Genes that share phenotypes with GAS8: view

Human Phenotype Ontology for GAS8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for GAS8 Gene

miRTarBase miRNAs that target GAS8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for GAS8 Gene

Localization for GAS8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GAS8 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, cilium, flagellum. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body. Golgi apparatus. Cell projection, cilium. Cytoplasm, cytoskeleton, flagellum axoneme. Note=Associates with microtubules (PubMed:10969087). Localized to the cytoplasm of round spermatids, the tails of elongating spermatids, and mature spermatid tail bundles protruding into the lumen, and in the flagellum of epididymal spermatozoa (By similarity). {ECO:0000250 UniProtKB:Q60779, ECO:0000269 PubMed:10969087}.

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 GAS8 gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 4
nucleus 3
cytosol 3
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GAS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IBA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA,IDA 10969087
GO:0005929 cilium IEA,IDA 16643277
genes like me logo Genes that share ontologies with GAS8: view

Pathways & Interactions for GAS8 Gene

genes like me logo Genes that share pathways with GAS8: view

Interacting Proteins for GAS8 Gene

Gene Ontology (GO) - Biological Process for GAS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003351 epithelial cilium movement IEA --
GO:0007368 determination of left/right symmetry IEA --
GO:0007420 brain development IEA --
GO:0008285 negative regulation of cell proliferation TAS 9790751
GO:0030317 flagellated sperm motility ISS,IEA --
genes like me logo Genes that share ontologies with GAS8: view

No data available for SIGNOR curated interactions for GAS8 Gene

Drugs & Compounds for GAS8 Gene

No Compound Related Data Available

Transcripts for GAS8 Gene

Unigene Clusters for GAS8 Gene

Growth arrest-specific 8:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GAS8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b
SP1: - -
SP2: -
SP3: - -
SP4:
SP5: - - - - - -
SP6: -
SP7:
SP8:

Relevant External Links for GAS8 Gene

GeneLoc Exon Structure for
GAS8
ECgene alternative splicing isoforms for
GAS8

Expression for GAS8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GAS8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GAS8 Gene

This gene is overexpressed in Stomach (33.3) and Plasma (22.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GAS8 Gene



Protein tissue co-expression partners for GAS8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GAS8 Gene:

GAS8

SOURCE GeneReport for Unigene cluster for GAS8 Gene:

Hs.431792

mRNA Expression by UniProt/SwissProt for GAS8 Gene:

O95995-DRC4_HUMAN
Tissue specificity: Expressed in respiratory epithelial cells (at protein level) (PubMed:26387594). Expressed in the heart, skeletal muscle, pancreas, liver, brain, trachea and lung. Weakly or not expressed in placenta and kidney (PubMed:9790751).

Evidence on tissue expression from TISSUES for GAS8 Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GAS8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • head
  • larynx
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • lung
  • trachea
Abdomen:
  • spleen
Pelvis:
  • ovary
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • white blood cell
genes like me logo Genes that share expression patterns with GAS8: view

No data available for mRNA differential expression in normal tissues for GAS8 Gene

Orthologs for GAS8 Gene

This gene was present in the common ancestor of animals.

Orthologs for GAS8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GAS8 34 33
  • 98.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GAS8 34 33
  • 88.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GAS8 34 33
  • 88.01 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gas8 16 34 33
  • 86.82 (n)
rat
(Rattus norvegicus)
Mammalia Gas8 33
  • 86.61 (n)
oppossum
(Monodelphis domestica)
Mammalia GAS8 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAS8 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves GAS8 34 33
  • 75.76 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GAS8 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gas8 33
  • 71.98 (n)
zebrafish
(Danio rerio)
Actinopterygii gas8 34 33
  • 67.17 (n)
OneToOne
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005850 33
  • 59.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta Gas8 34 33
  • 53.73 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4120 34
  • 69 (a)
OneToOne
Species where no ortholog for GAS8 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for GAS8 Gene

ENSEMBL:
Gene Tree for GAS8 (if available)
TreeFam:
Gene Tree for GAS8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GAS8: view image

Paralogs for GAS8 Gene

(1) SIMAP similar genes for GAS8 Gene using alignment to 7 proteins:

  • GAS8_HUMAN
  • G3V1L5_HUMAN
  • H3BME0_HUMAN
  • H3BNL3_HUMAN
  • H3BP65_HUMAN
  • H3BQT7_HUMAN
  • H3BUA7_HUMAN
genes like me logo Genes that share paralogs with GAS8: view

No data available for Paralogs for GAS8 Gene

Variants for GAS8 Gene

Sequence variations from dbSNP and Humsavar for GAS8 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs116113385 benign, Ciliary dyskinesia, primary, 33 90,032,905(+) T/A 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs117053233 benign, Ciliary dyskinesia, primary, 33 90,037,308(+) G/A coding_sequence_variant, missense_variant
rs141125763 likely-benign, Ciliary dyskinesia, primary, 33 90,037,283(+) G/C coding_sequence_variant, missense_variant
rs143772256 likely-benign, Ciliary dyskinesia, primary, 33 90,040,498(+) C/G/T coding_sequence_variant, missense_variant
rs146066553 uncertain-significance, Ciliary dyskinesia, primary, 33 90,027,663(+) A/G 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for GAS8 Gene

Variant ID Type Subtype PubMed ID
dgv3067n100 CNV gain 25217958
esv2676928 CNV deletion 23128226
esv2762221 CNV gain+loss 21179565
esv3553923 CNV deletion 23714750
esv3639603 CNV gain 21293372
esv3639606 CNV gain 21293372
esv3639607 CNV gain 21293372
esv3639608 CNV loss 21293372
nsv1062080 CNV loss 25217958
nsv1064351 CNV gain+loss 25217958
nsv1066499 CNV loss 25217958
nsv1067164 CNV gain+loss 25217958
nsv1070787 CNV deletion 25765185
nsv1118586 CNV duplication 24896259
nsv1933 CNV insertion 18451855
nsv428331 CNV gain+loss 18775914
nsv457626 CNV loss 19166990
nsv471119 CNV loss 18288195
nsv471120 CNV gain 18288195
nsv472797 CNV novel sequence insertion 20440878
nsv482951 CNV loss 15286789
nsv509641 CNV insertion 20534489
nsv573799 CNV gain 21841781
nsv573810 CNV loss 21841781
nsv573841 CNV loss 21841781
nsv573842 CNV loss 21841781
nsv952080 CNV deletion 24416366

Variation tolerance for GAS8 Gene

Residual Variation Intolerance Score: 96.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.08; 68.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GAS8 Gene

Human Gene Mutation Database (HGMD)
GAS8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GAS8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAS8 Gene

Disorders for GAS8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GAS8 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 33
  • cild33
- elite association - COSMIC cancer census association via MalaCards
Search GAS8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DRC4_HUMAN
  • Ciliary dyskinesia, primary, 33 (CILD33) [MIM:616726]: A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD33 inheritance is autosomal recessive. {ECO:0000269 PubMed:26387594, ECO:0000269 PubMed:27120127, ECO:0000269 PubMed:27472056}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GAS8

genes like me logo Genes that share disorders with GAS8: view

No data available for Genatlas for GAS8 Gene

Publications for GAS8 Gene

  1. Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer. (PMID: 9790751) Whitmore SA … Callen DF (Genomics 1998) 2 3 4 22 58
  2. T lymphocyte-triggering factor of african trypanosomes is associated with the flagellar fraction of the cytoskeleton and represents a new family of proteins that are present in several divergent eukaryotes. (PMID: 10969087) Hill KL … Donelson JE (The Journal of biological chemistry 2000) 3 4 22 58
  3. Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease. (PMID: 27472056) Lewis WR … Berbari NF (PLoS genetics 2016) 3 4 58
  4. Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization. (PMID: 27120127) Jeanson L … Legendre M (Human mutation 2016) 3 4 58
  5. Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. (PMID: 26387594) Olbrich H … Omran H (American journal of human genetics 2015) 3 4 58

Products for GAS8 Gene

Sources for GAS8 Gene

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