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OSBPL8 oxysterol binding protein like 8 [ Homo sapiens (human) ]

Gene ID: 114882, updated on 11-Apr-2024

Summary

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Official Symbol
OSBPL8provided by HGNC
Official Full Name
oxysterol binding protein like 8provided by HGNC
Primary source
HGNC:HGNC:16396
See related
Ensembl:ENSG00000091039 MIM:606736; AllianceGenome:HGNC:16396
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ORP8; MST120; OSBP10; MSTP120
Summary
This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Expression
Ubiquitous expression in kidney (RPKM 16.1), lymph node (RPKM 15.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12q21.2
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (76351797..76559771, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (76329717..76537711, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (76745577..76953551, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:76713713-76714305 Neighboring gene RN7SK pseudogene 172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:76741501-76742450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:76742451-76743400 Neighboring gene Bardet-Biedl syndrome 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6676 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:76884201-76884702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6677 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:76924776-76925504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6678 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4671 Neighboring gene uncharacterized LOC105369850 Neighboring gene MPRA-validated peak1843 silencer Neighboring gene MPRA-validated peak1844 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:77001658-77002857 Neighboring gene ribosomal protein L7a pseudogene 9 Neighboring gene YWHAQ pseudogene 7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Both the PH domain and N-terminal region of oxysterol-binding protein related protein 8S are required for localization to PM-ER contact sites. Lee M, et al. Biochem Biophys Res Commun, 2018 Feb 19. PMID 29409900
  2. Oxysterol-Binding Protein-Related Protein 8 Inhibits Gastric Cancer Growth Through Induction of ER Stress, Inhibition of Wnt Signaling, and Activation of Apoptosis. Guo X, et al. Oncol Res, 2017 May 24. PMID 27983927, Free PMC Article
  3. Oxysterol binding protein-related protein 8 mediates the cytotoxicity of 25-hydroxycholesterol. Li J, et al. J Lipid Res, 2016 Oct. PMID 27530118, Free PMC Article
  4. Oxysterol-binding protein-related protein 8 (ORP8) increases sensitivity of hepatocellular carcinoma cells to Fas-mediated apoptosis. Zhong W, et al. J Biol Chem, 2015 Apr 3. PMID 25596532, Free PMC Article
  5. ORP8 induces apoptosis by releasing cytochrome c from mitochondria in non‑small cell lung cancer. Li J, et al. Oncol Rep, 2020 May. PMID 32323800, Free PMC Article

See all (107) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ORP8 induces apoptosis by releasing cytochrome c from mitochondria in nonsmall cell lung cancer.
    Title: ORP8 induces apoptosis by releasing cytochrome c from mitochondria in non‑small cell lung cancer.
  2. ORP5/8 recruitment to the plasma membrane occurs through interactions with the N-terminal Pleckstrin homology domains and adjacent basic residues of ORP5/8 with both phosphatidylinositol 4-phosphate and Phosphatidylinositol 4,5-bisphosphate.
    Title: PI(4,5)P(2) controls plasma membrane PI4P and PS levels via ORP5/8 recruitment to ER-PM contact sites.
  3. ORP5/8 regulate Ca(2+) signaling at specific membrane contact sites foci.
    Title: Oxysterol-binding protein related-proteins (ORPs) 5 and 8 regulate calcium signaling at specific cell compartments.
  4. Examination of a series of deletion constructs demonstrated that both the N-terminal polybasic region and the PH domain are required for proper targeting of the short splice variant ORP8S to the PM-ER contact site in Chinese hamster ovary cells.
    Title: Both the PH domain and N-terminal region of oxysterol-binding protein related protein 8S are required for localization to PM-ER contact sites.
  5. ORP5/8 are endoplasmic reticulum (ER) membrane proteins implicated in lipid trafficking that localize to ER-plasma membrane (PM) contacts and maintain membrane homeostasis. Here the authors show that PtdIns(4,5)P 2 plays a critical role in the targeting and function of ORP5/8 at the PM.
    Title: ORP5 and ORP8 bind phosphatidylinositol-4, 5-biphosphate (PtdIns(4,5)P (2)) and regulate its level at the plasma membrane.
  6. we found that overexpression of ORP8 significantly inhibits GC cell proliferation and implanted tumor growth in vivo. Induction of ER stress, inhibition of Wnt signaling, and apoptotic cell death are involved in ORP8-induced inhibition of GC cell proliferation.
    Title: Oxysterol-Binding Protein-Related Protein 8 Inhibits Gastric Cancer Growth Through Induction of ER Stress, Inhibition of Wnt Signaling, and Activation of Apoptosis.
  7. mammalian ORP5 and ORP8 proteins localize to ER-mitochondrial MCS, in addition to ER-PM contact sites.
    Title: ORP5/ORP8 localize to endoplasmic reticulum-mitochondria contacts and are involved in mitochondrial function.
  8. the present study suggests that ORP8 may mediate the cytotoxicity of 25-hydroxycholesterol.
    Title: Oxysterol binding protein-related protein 8 mediates the cytotoxicity of 25-hydroxycholesterol.
  9. ORP5 and ORP8 could mediate PI4P/phosphatidylserine (PS) countertransport between the endoplasmic reticulum (ER) and the plasma membrane (PM), thus delivering PI4P to the ER-localized PI4P phosphatase Sac1 for degradation and PS from the ER to the PM.
    Title: INTRACELLULAR TRANSPORT. PI4P/phosphatidylserine countertransport at ORP5- and ORP8-mediated ER-plasma membrane contacts.
  10. role of ORP8 in Fas translocation to the plasma membrane and its down-regulation by miR-143 offer a putative mechanistic explanation for HCC resistance to apoptosis
    Title: Oxysterol-binding protein-related protein 8 (ORP8) increases sensitivity of hepatocellular carcinoma cells to Fas-mediated apoptosis.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with OSBPL8 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC126578, MGC133203, DKFZp686A11164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cholesterol binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylinositol-4-phosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylserine binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables phosphatidylserine transfer activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phospholipid transporter activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in fat cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cell migration IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of sequestering of triglyceride IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phosphatidylserine acyl-chain remodeling TAS
Traceable Author Statement
more info
  
involved_in phospholipid transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of glucose import ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of insulin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in protein localization to nuclear pore IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cortical endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
oxysterol-binding protein-related protein 8
Names
OSBP-related protein 8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001003712.2 → NP_001003712.1  oxysterol-binding protein-related protein 8 isoform b

    See identical proteins and their annotated locations for NP_001003712.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon and uses an alternate splice site in the 5' region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform b, which has a shorter N-terminus compared to isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AF323730, AF392452, BX647211
    Consensus CDS
    CCDS41814.1
    UniProtKB/TrEMBL
    Q5HYM3
    Related
    ENSP00000376940.4, ENST00000393250.8
    Conserved Domains (2) summary
    cd13286
    Location:100 → 229
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam01237
    Location:365 → 702
    Oxysterol_BP; Oxysterol-binding protein

  2. NM_001319652.2 → NP_001306581.1  oxysterol-binding protein-related protein 8 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains three alternate exons and lacks an exon in the 5' region, and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform b, which has a shorter N-terminus compared to isoform a. Variants 2 and 3 encode the same isoform (b).
    Source sequence(s)
    AF323730, AF392452, BC111728, CR749542
    Consensus CDS
    CCDS41814.1
    UniProtKB/TrEMBL
    Q5HYM3
    Related
    ENSP00000376939.2, ENST00000393249.6
    Conserved Domains (2) summary
    cd13286
    Location:100 → 229
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam01237
    Location:365 → 702
    Oxysterol_BP; Oxysterol-binding protein

  3. NM_001319653.2 → NP_001306582.1  oxysterol-binding protein-related protein 8 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site compared to variant 1. It encoded isoform c, which is shorter than isoform a.
    Source sequence(s)
    AC117491, AC122687, AC124943
    UniProtKB/TrEMBL
    Q5HYM3
    Conserved Domains (3) summary
    cd13286
    Location:139 → 268
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam00169
    Location:146 → 262
    PH; PH domain
    pfam01237
    Location:404 → 742
    Oxysterol_BP; Oxysterol-binding protein

  4. NM_001319655.2 → NP_001306584.1  oxysterol-binding protein-related protein 8 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. It encodes isoform d, which has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC122687, AF392452, AK092160, CR749542
    UniProtKB/TrEMBL
    Q5HYM3
    Related
    ENSP00000447893.1, ENST00000546946.5
    Conserved Domains (3) summary
    cd13286
    Location:117 → 246
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam00169
    Location:124 → 240
    PH; PH domain
    pfam01237
    Location:382 → 720
    Oxysterol_BP; Oxysterol-binding protein

  5. NM_020841.5 → NP_065892.1  oxysterol-binding protein-related protein 8 isoform a

    See identical proteins and their annotated locations for NP_065892.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AF392452, AL832876
    Consensus CDS
    CCDS31862.1
    UniProtKB/Swiss-Prot
    A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277
    UniProtKB/TrEMBL
    Q5HYM3
    Related
    ENSP00000261183.3, ENST00000261183.8
    Conserved Domains (2) summary
    cd13286
    Location:142 → 271
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam01237
    Location:407 → 744
    Oxysterol_BP; Oxysterol-binding protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    76351797..76559771 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537856.4 → XP_011536158.1  oxysterol-binding protein-related protein 8 isoform X4

    See identical proteins and their annotated locations for XP_011536158.1

    UniProtKB/TrEMBL
    Q5HYM3
    Conserved Domains (3) summary
    cd13286
    Location:155 → 284
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam00169
    Location:162 → 278
    PH; PH domain
    pfam01237
    Location:420 → 758
    Oxysterol_BP; Oxysterol-binding protein

  2. XM_017018769.3 → XP_016874258.1  oxysterol-binding protein-related protein 8 isoform X6

    UniProtKB/TrEMBL
    Q5HYM3
    Conserved Domains (3) summary
    cd13286
    Location:139 → 268
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam00169
    Location:146 → 262
    PH; PH domain
    pfam01237
    Location:404 → 742
    Oxysterol_BP; Oxysterol-binding protein

  3. XM_047428251.1 → XP_047284207.1  oxysterol-binding protein-related protein 8 isoform X5

    UniProtKB/Swiss-Prot
    A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277

  4. XM_047428249.1 → XP_047284205.1  oxysterol-binding protein-related protein 8 isoform X4

  5. XM_047428250.1 → XP_047284206.1  oxysterol-binding protein-related protein 8 isoform X5

    UniProtKB/Swiss-Prot
    A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277

  6. XM_011537857.4 → XP_011536159.1  oxysterol-binding protein-related protein 8 isoform X4

    See identical proteins and their annotated locations for XP_011536159.1

    UniProtKB/TrEMBL
    Q5HYM3
    Conserved Domains (3) summary
    cd13286
    Location:155 → 284
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam00169
    Location:162 → 278
    PH; PH domain
    pfam01237
    Location:420 → 758
    Oxysterol_BP; Oxysterol-binding protein

  7. XM_047428254.1 → XP_047284210.1  oxysterol-binding protein-related protein 8 isoform X9

  8. XM_005268621.6 → XP_005268678.1  oxysterol-binding protein-related protein 8 isoform X5

    See identical proteins and their annotated locations for XP_005268678.1

    UniProtKB/Swiss-Prot
    A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277
    UniProtKB/TrEMBL
    Q5HYM3
    Conserved Domains (2) summary
    cd13286
    Location:142 → 271
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam01237
    Location:407 → 744
    Oxysterol_BP; Oxysterol-binding protein

  9. XM_047428247.1 → XP_047284203.1  oxysterol-binding protein-related protein 8 isoform X3

  10. XM_017018768.3 → XP_016874257.1  oxysterol-binding protein-related protein 8 isoform X2

    UniProtKB/TrEMBL
    Q5HYM3
    Conserved Domains (2) summary
    cd13286
    Location:165 → 294
    PH_OPR5_ORP8; Human Oxysterol binding protein related proteins 5 and 8 Pleckstrin homology (PH) domain
    pfam01237
    Location:430 → 767
    Oxysterol_BP; Oxysterol-binding protein

  11. XM_047428246.1 → XP_047284202.1  oxysterol-binding protein-related protein 8 isoform X1

  12. XM_047428248.1 → XP_047284204.1  oxysterol-binding protein-related protein 8 isoform X4

  13. XM_047428255.1 → XP_047284211.1  oxysterol-binding protein-related protein 8 isoform X9

  14. XM_047428253.1 → XP_047284209.1  oxysterol-binding protein-related protein 8 isoform X8

  15. XM_047428252.1 → XP_047284208.1  oxysterol-binding protein-related protein 8 isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    76329717..76537711 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371003.1 → XP_054226978.1  oxysterol-binding protein-related protein 8 isoform X4

  2. XM_054371011.1 → XP_054226986.1  oxysterol-binding protein-related protein 8 isoform X6

  3. XM_054371007.1 → XP_054226982.1  oxysterol-binding protein-related protein 8 isoform X5

    UniProtKB/Swiss-Prot
    A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277

  4. XM_054371006.1 → XP_054226981.1  oxysterol-binding protein-related protein 8 isoform X5

    UniProtKB/Swiss-Prot
    A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277

  5. XM_054371005.1 → XP_054226980.1  oxysterol-binding protein-related protein 8 isoform X4

  6. XM_054371013.1 → XP_054226988.1  oxysterol-binding protein-related protein 8 isoform X9

  7. XM_054371009.1 → XP_054226984.1  oxysterol-binding protein-related protein 8 isoform X5

    UniProtKB/Swiss-Prot
    A8K1T2, E9PE66, E9PE68, Q52LQ3, Q68D75, Q8WXP8, Q9BZF1, Q9P277

  8. XM_054371004.1 → XP_054226979.1  oxysterol-binding protein-related protein 8 isoform X4

  9. XM_054371010.1 → XP_054226985.1  oxysterol-binding protein-related protein 8 isoform X3

  10. XM_054371008.1 → XP_054226983.1  oxysterol-binding protein-related protein 8 isoform X2

  11. XM_054371002.1 → XP_054226977.1  oxysterol-binding protein-related protein 8 isoform X10

  12. XM_054371012.1 → XP_054226987.1  oxysterol-binding protein-related protein 8 isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BZF1.3 GenPept UniProtKB/Swiss-Prot:Q9BZF1

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