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Aliases for ST8SIA1 Gene

Aliases for ST8SIA1 Gene

  • ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 1 2 3 5
  • Sialyltransferase 8 (Alpha-N-Acetylneuraminate: Alpha-2,8-Sialytransferase, GD3 Synthase) A 2 3
  • ST8 Alpha-N-Acetylneuraminate Alpha-2,8-Sialyltransferase 1 2 3
  • Alpha-2,8-Sialyltransferase 8A 3 4
  • Sialyltransferase St8Sia I 3 4
  • Ganglioside GD3 Synthase 3 4
  • Ganglioside GT3 Synthase 3 4
  • EC 2.4.99.8 4 58
  • SIAT8-A 3 4
  • ST8SiaI 3 4
  • SIAT8A 3 4
  • SIAT8 3 4
  • Sialyltransferase 8A (Alpha-N-Acetylneuraminate: Alpha-2,8-Sialyltransferase, GD3 Synthase) 3
  • Alpha-N-Acetylneuraminide Alpha-2,8-Sialyltransferase 3
  • Ganglioside-Specific Alpha-2,8-Polysialyltransferase 3
  • Disialoganglioside (GD3) Synthase 3
  • Sialytransferase St8Sia I 3
  • Sialyltransferase 8A 4
  • ST8Sia I 2
  • GD3S 3

External Ids for ST8SIA1 Gene

Previous HGNC Symbols for ST8SIA1 Gene

  • SIAT8
  • SIAT8A

Previous GeneCards Identifiers for ST8SIA1 Gene

  • GC12M022246
  • GC12M022119

Summaries for ST8SIA1 Gene

Entrez Gene Summary for ST8SIA1 Gene

  • Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of cultured malignant cells. The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to GM3 to produce gangliosides GD3 and GT3. The encoded protein may be found in the Golgi apparatus and is a member of glycosyltransferase family 29. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2015]

GeneCards Summary for ST8SIA1 Gene

ST8SIA1 (ST8 Alpha-N-Acetyl-Neuraminide Alpha-2,8-Sialyltransferase 1) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism. GO annotations related to this gene include sialyltransferase activity and alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity. An important paralog of this gene is ST8SIA5.

UniProtKB/Swiss-Prot for ST8SIA1 Gene

  • Involved in the production of gangliosides GD3 and GT3 from GM3; gangliosides are a subfamily of complex glycosphinglolipds that contain one or more residues of sialic acid.

Gene Wiki entry for ST8SIA1 Gene

Additional gene information for ST8SIA1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ST8SIA1 Gene

Genomics for ST8SIA1 Gene

Regulatory Elements for ST8SIA1 Gene

Enhancers for ST8SIA1 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
GH12H022041 1.3 FANTOM5 Ensembl ENCODE 9.6 +393.9 393936 3 SOX13 MAX YBX1 ZNF384 EGR1 FOS THAP11 SOX5 HLF CEBPB ST8SIA1 CMAS THEM4P1
GH12H022275 1.3 FANTOM5 Ensembl ENCODE 9.3 +160.9 160928 1 SMARCE1 RFX1 MNT ELF1 DPF2 RFX5 JUND GATA3 CTBP1 FOSL2 ST8SIA1 LOC105369151 GC12M021918
GH12H022281 1.1 FANTOM5 Ensembl ENCODE 10.6 +154.2 154231 2 JUND POLR2A JUN ST8SIA1 LOC105369151 GC12M021918
GH12H022045 1 ENCODE 9.7 +389.5 389485 3 ARID4B SIN3A DMAP1 ZNF2 YY1 ETS1 TCF12 ZNF121 SLC30A9 GLIS2 RECQL ST8SIA1 LDHB CMAS LOC105369690
GH12H022285 0.9 FANTOM5 Ensembl ENCODE 7 +149.8 149817 2 MAFK ST8SIA1 C2CD5 LOC105369151 GC12M021918
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ST8SIA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ST8SIA1 Gene

Chromosome:
12
Start:
22,063,773 bp from pter
End:
22,437,041 bp from pter
Size:
373,269 bases
Orientation:
Minus strand

Genomic View for ST8SIA1 Gene

Genes around ST8SIA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ST8SIA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ST8SIA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ST8SIA1 Gene

Proteins for ST8SIA1 Gene

  • Protein details for ST8SIA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92185-SIA8A_HUMAN
    Recommended name:
    Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase
    Protein Accession:
    Q92185
    Secondary Accessions:
    • A8K4H6
    • Q17RL0
    • Q6PZN5
    • Q93064

    Protein attributes for ST8SIA1 Gene

    Size:
    356 amino acids
    Molecular mass:
    40519 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC37586.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA54891.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ST8SIA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ST8SIA1 Gene

Selected DME Specific Peptides for ST8SIA1 Gene

Q92185:
  • PSLRVYYTL
  • WPFSVNM
  • HAMPEEFLQLW
  • LYSFTIDNSTYSLFPQATPFQLPLKKCAVVGNGGILK
  • GKFWKSRGIH
  • PISHHYYDNVLPF

Post-translational modifications for ST8SIA1 Gene

  • Glycosylation at Asn71, posLast=119119, Asn214, and Asn245
  • Modification sites at PhosphoSitePlus

Other Protein References for ST8SIA1 Gene

Antibody Products

  • R&D Systems Antibodies for ST8SIA1 ("ST8 alpha-2,8-Sialyltransferase 8A/ST8SIA1")

Protein Products

Domains & Families for ST8SIA1 Gene

Gene Families for ST8SIA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ST8SIA1 Gene

Suggested Antigen Peptide Sequences for ST8SIA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92185

UniProtKB/Swiss-Prot:

SIA8A_HUMAN :
  • Belongs to the glycosyltransferase 29 family.
Family:
  • Belongs to the glycosyltransferase 29 family.
genes like me logo Genes that share domains with ST8SIA1: view

Function for ST8SIA1 Gene

Molecular function for ST8SIA1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
CMP-N-acetylneuraminate + alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-R = CMP + alpha-N-acetylneuraminyl-(2->8)-alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-R.
UniProtKB/Swiss-Prot Function:
Involved in the production of gangliosides GD3 and GT3 from GM3; gangliosides are a subfamily of complex glycosphinglolipds that contain one or more residues of sialic acid.

Enzyme Numbers (IUBMB) for ST8SIA1 Gene

Phenotypes From GWAS Catalog for ST8SIA1 Gene

Gene Ontology (GO) - Molecular Function for ST8SIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003828 alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity IEA,TAS --
GO:0008373 sialyltransferase activity IEA,TAS 8195250
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with ST8SIA1: view
genes like me logo Genes that share phenotypes with ST8SIA1: view

Animal Models for ST8SIA1 Gene

MGI Knock Outs for ST8SIA1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ST8SIA1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ST8SIA1 Gene

Localization for ST8SIA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ST8SIA1 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

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 ST8SIA1 gene
Compartment Confidence
golgi apparatus 5
mitochondrion 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ST8SIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ST8SIA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ST8SIA1 Gene

Pathways & Interactions for ST8SIA1 Gene

genes like me logo Genes that share pathways with ST8SIA1: view

UniProtKB/Swiss-Prot Q92185-SIA8A_HUMAN

  • Pathway: Lipid metabolism; sphingolipid metabolism.
  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for ST8SIA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 8195250
GO:0006486 protein glycosylation IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006688 glycosphingolipid biosynthetic process TAS 8195250
genes like me logo Genes that share ontologies with ST8SIA1: view

No data available for SIGNOR curated interactions for ST8SIA1 Gene

Drugs & Compounds for ST8SIA1 Gene

(1) Drugs for ST8SIA1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytidine monophosphate Experimental Pharma 0

(60) Additional Compounds for ST8SIA1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cytidine monophosphate N-acetylneuraminic acid
  • CMP-N-Acetylneuraminate
  • CMP-N-Acylneuraminate
  • CMP-NeuNAc
  • Cytidine 5'-monophosphate N-acetylneuraminic acid
  • Cytidine Monophosphate N-Acetylneuraminate
22-12-8
Ganglioside GD3 (d18:1/12:0)
  • alpha-N-Acetylneuraminyl-2,8-alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-glucosyl-1,1'-ceramide
  • alpha-N-Acetylneuraminyl-2,8-alpha-N-acetylneuraminyl-2,3-beta-delta-galactosyl-1,4-beta-glucosyl-1,1'-ceramide
  • Ganglioside GD3
  • Ganglioside Glac2
  • GD3
104443-61-0
Ganglioside GD3 (d18:1/16:0)
  • alpha-N-Acetylneuraminyl-2,8-alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-glucosyl-1,1'-ceramide
  • alpha-N-Acetylneuraminyl-2,8-alpha-N-acetylneuraminyl-2,3-beta-delta-galactosyl-1,4-beta-glucosyl-1,1'-ceramide
  • Ganglioside GD3
  • Ganglioside Glac2
  • GD3
104443-61-0
Ganglioside GD3 (d18:1/20:0)
  • alpha-N-Acetylneuraminyl-2,8-alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-glucosyl-1,1'-ceramide
  • alpha-N-Acetylneuraminyl-2,8-alpha-N-acetylneuraminyl-2,3-beta-delta-galactosyl-1,4-beta-glucosyl-1,1'-ceramide
  • Ganglioside GD3
  • Ganglioside Glac2
  • GD3
104443-61-0
Ganglioside GD3 (d18:1/24:0)
  • alpha-N-Acetylneuraminyl-2,8-alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-glucosyl-1,1'-ceramide
  • alpha-N-Acetylneuraminyl-2,8-alpha-N-acetylneuraminyl-2,3-beta-delta-galactosyl-1,4-beta-glucosyl-1,1'-ceramide
  • Ganglioside GD3
  • Ganglioside Glac2
  • GD3
104443-61-0
genes like me logo Genes that share compounds with ST8SIA1: view

Transcripts for ST8SIA1 Gene

Unigene Clusters for ST8SIA1 Gene

ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ST8SIA1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ST8SIA1 Gene

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

Relevant External Links for ST8SIA1 Gene

GeneLoc Exon Structure for
ST8SIA1
ECgene alternative splicing isoforms for
ST8SIA1

Expression for ST8SIA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ST8SIA1 Gene

mRNA differential expression in normal tissues according to GTEx for ST8SIA1 Gene

This gene is overexpressed in Brain - Cerebellum (x4.0) and Brain - Cerebellar Hemisphere (x4.0).

Protein differential expression in normal tissues from HIPED for ST8SIA1 Gene

This gene is overexpressed in Plasma (42.0) and Heart (27.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ST8SIA1 Gene



Protein tissue co-expression partners for ST8SIA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ST8SIA1 Gene:

ST8SIA1

SOURCE GeneReport for Unigene cluster for ST8SIA1 Gene:

Hs.408614

mRNA Expression by UniProt/SwissProt for ST8SIA1 Gene:

Q92185-SIA8A_HUMAN
Tissue specificity: Strongly expressed in melanoma cell lines, adult and fetal brain and to a lesser extent in adult and fetal lung.

Evidence on tissue expression from TISSUES for ST8SIA1 Gene

  • Intestine(4.2)
  • Stomach(4.1)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with ST8SIA1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ST8SIA1 Gene

Orthologs for ST8SIA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ST8SIA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ST8SIA1 33 34
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia ST8SIA1 33 34
  • 94.01 (n)
cow
(Bos Taurus)
Mammalia ST8SIA1 34 33
  • 92.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia St8sia1 33 16 34
  • 87.42 (n)
rat
(Rattus norvegicus)
Mammalia St8sia1 33
  • 87.04 (n)
oppossum
(Monodelphis domestica)
Mammalia ST8SIA1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ST8SIA1 33 34
  • 79.57 (n)
lizard
(Anolis carolinensis)
Reptilia ST8SIA1 34
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398735 33
zebrafish
(Danio rerio)
Actinopterygii LOC100333872 33
  • 66.46 (n)
st8sia1 34 34
  • 62 (a)
OneToMany
Species where no ortholog for ST8SIA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ST8SIA1 Gene

ENSEMBL:
Gene Tree for ST8SIA1 (if available)
TreeFam:
Gene Tree for ST8SIA1 (if available)

Paralogs for ST8SIA1 Gene

Paralogs for ST8SIA1 Gene

genes like me logo Genes that share paralogs with ST8SIA1: view

Variants for ST8SIA1 Gene

Sequence variations from dbSNP and Humsavar for ST8SIA1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000023645 -- 22,195,271(+) AACTC(C/G)CAGGA utr-variant-3-prime
rs1000040919 -- 22,324,748(+) ATGCT(C/T)AGCTA intron-variant, nc-transcript-variant
rs1000059726 -- 22,282,560(+) TCCTT(G/T)GCCAT intron-variant
rs1000101399 -- 22,317,108(+) ATTTT(C/T)TTTAT intron-variant
rs1000117589 -- 22,218,420(+) CCAGA(A/C)CAGCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ST8SIA1 Gene

Variant ID Type Subtype PubMed ID
dgv467e212 CNV loss 25503493
esv23565 CNV loss 19812545
esv2759883 CNV gain+loss 17122850
esv3304736 CNV mobile element insertion 20981092
esv33913 CNV gain 17666407
esv3435731 CNV insertion 20981092
esv3580188 CNV loss 25503493
nsv1070516 CNV deletion 25765185
nsv1119938 CNV deletion 24896259
nsv1119939 CNV deletion 24896259
nsv1130908 CNV deletion 24896259
nsv1146956 CNV deletion 26484159
nsv435637 CNV deletion 17901297
nsv476720 CNV novel sequence insertion 20440878
nsv482978 CNV loss 15286789
nsv521274 CNV loss 19592680

Variation tolerance for ST8SIA1 Gene

Residual Variation Intolerance Score: 37.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.96; 19.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ST8SIA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ST8SIA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ST8SIA1 Gene

Disorders for ST8SIA1 Gene

Relevant External Links for ST8SIA1

Genetic Association Database (GAD)
ST8SIA1
Human Genome Epidemiology (HuGE) Navigator
ST8SIA1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ST8SIA1

No disorders were found for ST8SIA1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ST8SIA1 Gene

Publications for ST8SIA1 Gene

  1. Variants in ST8SIA1 do not play a major role in susceptibility to multiple sclerosis in Canadian families. (PMID: 19428123) Ramagopalan SV … Ebers GC (Journal of neuroimmunology 2009) 3 22 45 60
  2. Variants of ST8SIA1 are associated with risk of developing multiple sclerosis. (PMID: 18612409) Husain S … Vitale E (PloS one 2008) 3 22 45 60
  3. Isolation of GD3 synthase gene by expression cloning of GM3 alpha-2,8-sialyltransferase cDNA using anti-GD2 monoclonal antibody. (PMID: 7937974) Haraguchi M … Furukawa K (Proceedings of the National Academy of Sciences of the United States of America 1994) 3 4 22 60
  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 45 60
  5. Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. (PMID: 20708005) Chalasani N … Nonalcoholic Steatohepatitis Clinical Research Network (Gastroenterology 2010) 3 45 60

Products for ST8SIA1 Gene

Sources for ST8SIA1 Gene

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