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PAFAH1B3 Gene

protein-coding   GIFtS: 62

GC19M047493
platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)
(Previous names: platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD), platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
EC 3.1.1.47 3
FLJ44990 2
PAFAHG 2, 3
Descriptions
PAF acetylhydrolase 29 kDa subunit 3
PAF-AH 29 kDa subunit 3
PAF-AH subunit gamma 3
PAFAH subunit gamma 3
platelet-activating factor acetylhydrolase, isoform Ib,
gamma subunit 2
platelet-activating factor acetylhydrolase, isoform Ib,
gamma subunit (29kD) 1
platelet-activating factor acetylhydrolase, isoform Ib,
gamma subunit 29kDa 1, 2
platelet-activating factor acetylhydrolase, isoform Ib,
subunit 3 (29kDa) 2
External Ids
HGNC: 85761
Entrez Gene: 50502
UniProtKB: Q151023
Ensembl: ENSG000000794627
Search outside databases for aliases for PAFAH1B3 gene

Previous GC identifers: GC19M043447 GC19M043192 GC19M047477

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for PAFAH1B3:
This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the
glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the
platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic
beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain
development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on
chromosome 1 has been observed, and was associated with mental retardation, ataxia, and atrophy of
the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq]

UniProtKB/Swiss-Prot: PA1B3_HUMAN, Q15102
Function: Inactivates paf by removing the acetyl group at the sn-2 position. This is a catalytic
subunit. Plays an important role during the development of brain

Gene Wiki entry for PAFAH1B3

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the PAFAH1B3 gene  

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.1

PAFAH1B3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M047493:     (about GC identifiers)

Start:
47,493,025 bp from pter
End:
47,498,563 bp from pter
Size:
5,539 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000019.8  NT_011109.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: PA1B3_HUMAN, Q15102 (See protein sequence)
Recommended Name: Platelet-activating factor acetylhydrolase IB subunit gamma  
Size: 231 amino acids; 25734 Da
Subunit: Cytosolic PAF-AH IB is formed of three subunits of 45 kDa (alpha), 30 kDa (beta) and 29
kDa (gamma). The catalytic activity of the enzyme resides in the beta and gamma subunits, whereas
the alpha subunit has regulatory activity. Trimer formation is not essential for the catalytic
activity
Subcellular location: Cytoplasm

REFSEQ proteins (3 alternative transcripts): 
NP_001139411.1  NP_001139412.1  NP_002564.1  


ENSEMBL proteins: 
ENSP00000262890 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (PAFAH1B3)
Human Recombinant Proteins from Abnova (PAFAH1B3)
              OriGene Purified Recombinant Human Protein: PAFAH1B3 

1 Gene Ontology (GO) cellular component term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005737 cytoplasm IEA--
About this table

Antibodies for PAFAH1B3: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for PAFAH1B3
Browse R&D Systems for Antibodies
Antibodies from Abcam (PAFAH1B3), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (PAFAH1B3)
Novus Biologicals Antibodies for PAFAH1B3

Assays for PAFAH1B3: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

3 InterPro domains/families:
 IPR013831 Esterase_SGNH_hydro-type_subgr
 IPR008265 Lipase_GDSL_AS
 IPR001087 Lipase_GDSL


   GeneDecks  PAFAH1B3 for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q15102

ProtoNet protein and cluster: Q15102

1 Blocks protein family: IPB001087 Lipolytic enzyme

UniProtKB/Swiss-Prot: PA1B3_HUMAN, Q15102
Similarity: Belongs to the 'GDSL' lipolytic enzyme family. Platelet-activating factor
acetylhydrolase IB beta/gamma subunits subfamily

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (PAFAH1B3)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (PAFAH1B3)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_002573

              Applied Biosystems Silencer® siRNAs for PAFAH1B3

              Sigma-Aldrich siRNA for PAFAH1B3  
                     Sigma-Aldrich shRNA for PAFAH1B3  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for PAFAH1B3
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001145939
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001145939
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001145939 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_002573

UniProtKB/Swiss-Prot: PA1B3_HUMAN, Q15102
Function: Inactivates paf by removing the acetyl group at the sn-2 position. This is a catalytic
subunit. Plays an important role during the development of brain
Catalytic activity: 1-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H(2)O =
1-alkyl-sn-glycero-3-phosphocholine + acetate
Enzyme Number (IUBMB): EC 3.1.1.47 

Genatlas biochemistry entry for PAFAH1B3:
platelet activating factor acetylhydrolase,isoform 1b,gamma subunit ,29kDa

4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Pafah1b3):

embryogenesisendocrine/exocrine glandnormalreproductive system

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity IEA--
GO:0005515 protein binding IPI16189514
GO:0016788 hydrolase activity, acting on ester bonds IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section


1 Sigma-Aldrich "Your Favorite Gene" Pathway for  PAFAH1B3  (Your Favorite Gene powered by Ingenuity) 
 Reelin Signaling in Neurons

   GeneDecks  PAFAH1B3 for the pathways selected above  
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1 Kegg Pathway  (Kegg details for PAFAH1B3):
 hsa00565 Ether lipid metabolism

   GeneDecks  PAFAH1B3 for the pathways selected above  
About GeneDecksing
 Gene Network CentralTM Interacting Genes and Proteins Network for  PAFAH1B3 


5/52 Interacting proteins for PAFAH1B3 (Q151021, 2 ENSP000002628903) via UniProtKB, MINT, and/or STRING (see all 52 )
InteractantInteraction Details
GeneCardExternal ID(s)
PAFAH1B2P684022, ENSP000003040063MINT-66289 STRING (score=.99)
LNX1Q8TBB11, 2EBI-711522, EBI-739832 MINT-66823 EBI-711522, EBI-739832 MINT-66823
LNX1Q8TBB11, 2EBI-711522, EBI-739832 MINT-66823 EBI-711522, EBI-739832 MINT-66823
C14orf1Q9UKR52MINT-64220
CHMP7Q8WUX92MINT-67473
About this table

3 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0007283 spermatogenesis IEA--
GO:0007399 nervous system development TAS7669037
GO:0016042 lipid catabolic process IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for PAFAH1B3

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (PAFAH1B3)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (PAFAH1B3)
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_002573

              Sigma-Aldrich siRNA for PAFAH1B3  
                     Sigma-Aldrich shRNA for PAFAH1B3  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_002573  

REFSEQ mRNAs for PAFAH1B3 gene (3 alternative transcripts): 

NM_001145939.1   NM_001145940.1   NM_002573.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_002573  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001145939
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001145939
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001145939 

Additional cDNA sequence: 

BC003016.1 BC007863.2 CR407626.1 CR615853.1 D63391.1 

8 DOTS entries:

DT.446712  DT.100821745  DT.100821744  DT.95271738  DT.92437219  DT.92437227  DT.100821747  DT.92437224 

24/252 AceView cDNA sequences (see all 252 ):

CB216829 BM926897 BE793018 BQ581548 CA748600 BM728729 AA496629 BU730831 
Z39644 AA811526 CR407626 BM708533 BQ277980 BM784760 BM008611 CR615853 
BQ051834 BE887997 BE858102 BG475134 BM716130 BQ277965 BM709263 BE792900 

highest scoring ESTs for PAFAH1B3:

D63391 AI769463 AI769594 BC003016 BC007863 BE545045 BE741465 BE785668 BE792900 BE793421 

Unigene Cluster for PAFAH1B3:

Platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)
Hs.466831  [show with all ESTs]
Unigene Representative Sequence: BM904583


GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for PAFAH1B3

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

About this scheme

ECgene alternative splicing isoforms for PAFAH1B3

1 Ensembl transcript including schematic representation:
ENST00000262890  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

PAFAH1B3 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for PAFAH1B3

1 / 2 / 3

3 probe-sets matching PAFAH1B3 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
35800_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 D63391 1.00 1.00 1.00 1

203228_at2, 3 U133-A 1 1.00 1.00 -- -- NM_002573 0.60 1.00 0.82 1

203228_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  PAFAH1B3 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: TATGATTACC

SOURCE GeneReport for Unigene cluster: Hs.466831

Expression variation in blood from EXPOLDB for PAFAH1B3

UniProtKB/Swiss-Prot: PA1B3_HUMAN, Q15102
Tissue specificity: In the adult, expressed in brain, skeletal muscle, kidney, thymus, spleen,
colon, testis, ovary and peripheral blood leukocytes. In the fetus, highest expression occurs in
brain

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for PAFAH1B3 gene from 5/8 species (see all 8 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
PAFAH1B31   -- platelet-activating factor acetylhydrolase, isoform more 91.49(n)
96.54(a)
476449  XM_533656.2  XP_533656.1 
chimpanzee
(Pan troglodytes)
PAFAH1B31   -- platelet-activating factor acetylhydrolase, isoform more 99.57(n)
100(a)
456074  XM_001154079.1  XP_001154079.1 
cow
(Bos taurus)
PAFAH1B31   -- platelet-activating factor acetylhydrolase, isoform more 91.49(n)
97.4(a)
282515  NM_174665.2  NP_777090.1 
rat
(Rattus norvegicus)
Pafah1b31   -- platelet-activating factor acetylhydrolase, isoform more 88.89(n)
96.54(a)
114113  NM_053654.2  NP_446106.1 
mouse
(Mus musculus)
Pafah1b31, 5 75
platelet-activating factor acetylhydrolase, isoform more1, 5 88.55(n)1
96.52(a)1
184761  NM_008776.11  NP_032802.11 
 AK0393755  AK1545475  (see all 8)
About this table        Species with no ortholog for PAFAH1B3

ENSEMBL Gene Tree for PAFAH1B3
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for PAFAH1B3 gene
PAFAH1B22  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10 NCBI SNPs in PAFAH1B3 are shown
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (only AB snps)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 19 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs10438181,2
C,F,H47493126(-) TTCTGC/GGTCTG 1 R/G mis1 ese39Minor allele frequency- G:0.00MN EU EA WA 980
rs124291,2
C47493180(-) TGCATC/TTGAGC 1 L/L syn1 ese31Minor allele frequency- T:0.00MN 184
--
rs115536351,2
--47493129(+) ACGCAA/GAAGCA 1 L/L syn1 ese30--------
--
rs48035311,2
--47494979(+) TTTTTG/TTATTT 1 -- int10--------
--
rs735528951,2
--47494683(+) CACCCA/GGGCGA 1 -- int10--------
--
rs358987881,2
--47494130(+) TTGCA-/GGTGAG 1 -- int10--------
--
rs571324901,2
--47495804(+) TCAACC/TACAGC 1 -- int10--------
--
rs735528921,2
--47494220(+) GCTCAC/TGCCTG 1 -- int10--------
--
rs719072671,2
--47494486(+) TCCCA-/AAAT  
        
AAATA
1 -- int10--------
--
rs597442461,2
--47494498(+) ATAAA-/TAAA  
        
AGATA
1 -- int10--------
About this table
The following additional 21 SNP(s) have been found in Applied Biosystems data source:
(Click for Applied Biosystems TaqMan ® Genotyping Assay)


 rs12984944 rs9304602 rs1055512 rs2615614 rs851615 rs10410653 rs10413484
 rs2075086 rs1052023 rs10425883 rs28469564 rs10410185 rs1052064 rs2537697
 rs10415478 rs3826706 rs851614 rs61745381 rs5024183 rs11553634 rs851608

HapMap Linkage Disequilibrium images for PAFAH1B3 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 603074

Human Gene Mutation Database: PAFAH1B3

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/13 PubMed articles for PAFAH1B3 gene (see all 13 ):
(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 5050 HGNC: 8576 AceView: PAFAH1B3 Ensembl:ENSG00000079462 euGenes: HUgn5050
ECgene: PAFAH1B3 H-InvDB: PAFAH1B3
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

  --
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for PAFAH1B3:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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 Predesigned and custom siRNAs for PAFAH1B3 Antibodies for PAFAH1B3
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for PAFAH1B3 Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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 Purified proteins from HEK293T cells
 Western blot validated antibodies
 shRNA in GFP-retroviral vector
 Search Tocris compounds for PAFAH1B3




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