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ECM1 Gene

protein-coding   GIFtS: 62

GC01P148747
extracellular matrix protein 1
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)
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Aliases
OTTHUMP00000014932 2
OTTHUMP00000014934 2
Descriptions
Secretory component p85 2, 3
extracellular matrix protein 1 2
External Ids
HGNC: 31531
Entrez Gene: 18932
UniProtKB: Q166103
Ensembl: ENSG000001433697
Search outside databases for aliases for ECM1 gene

Previous GC identifers: GC01P148322 GC01P146227 GC01P147255 GC01P147697 GC01P147293

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

EntrezGene summary for ECM1:
This gene encodes an extracellular protein containing motifs with a cysteine pattern characteristic
of the cysteine pattern of the ligand-binding "double-loop" domains of the albumin
protein family. This gene maps outside of the epidermal differentiation complex (EDC), a cluster
of three gene families involved in epidermal differentiation. Alternatively spliced transcript
variants encoding distinct isoforms have been described. [provided by RefSeq]

Gene Wiki entry for ECM1
(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)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ECM1 gene  

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q21.2   HGNC cytogenetic band: 1q21

ECM1 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 1         GeneLoc Exon Structure

GeneLoc location for GC01P148747:     (about GC identifiers)

Start:
148,747,158 bp from pter
End:
148,752,660 bp from pter
Size:
5,503 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000001.9  NT_004487.18  
(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: ECM1_HUMAN, Q16610 (See protein sequence)
Recommended Name: Extracellular matrix protein 1 precursor  
Size: 540 amino acids; 60674 Da
Subcellular location: Secreted, extracellular space, extracellular matrix
Secondary accessions: A8K8S0 B4DW49 B4DY60 O43266 Q5T5G4 Q5T5G5 Q5T5G6 Q8IZ60
Alternative splicing: 4 isoforms:  Q16610-1   Q16610-2   Q16610-3   Q16610-4   

REFSEQ proteins (2 alternative transcripts): 
NP_004416.2  NP_073155.2  


ENSEMBL proteins: 
ENSP00000358045 ENSP00000358043 ENSP00000271630 


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  
R&D Systems Recombinant & Natural Proteins for ECM1 (ECM-1)
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (Secretory Component Glycoprotein)
Human Recombinant Proteins from Abnova (ECM1)
              OriGene Purified Recombinant Human Protein: ECM1 

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005576 extracellular region IEA--
GO:0005578 proteinaceous extracellular matrix NAS9367673
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Antibodies for ECM1: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for ECM1
R&D Systems Antibodies for ECM1 (ECM-1)
Antibodies from Abcam (Secretory Component Glycoprotein), each with their AbpromiseSM
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for ECM1

Assays for ECM1: 
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)
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1 InterPro domain/family:
 IPR008605 ECM1


   GeneDecks  ECM1 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q16610

ProtoNet protein and cluster: Q16610

1 Blocks protein family: IPB008605 Extracellular matrix 1

(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.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (ECM1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_004425

              Applied Biosystems Silencer® siRNAs for ECM1

              Sigma-Aldrich siRNA for ECM1  
                     Sigma-Aldrich shRNA Panels and shRNA for ECM1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for ECM1
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_004425
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_004425
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_004425 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_004425

Genatlas biochemistry entry for ECM1:
extracellular matrix protein 1,with two alternative spliced isoform,1.8kb,expressed in
heart,placenta,1.4kb,in tonsils and keratinocytes

1 Gene Ontology (GO) molecular function term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0004871 signal transducer activity ISS--
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.)
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1 Invitrogen iPath™ Online BioAtlas - Pathway for ECM1 (Maps provided by GeneGo):
 Cell-matrix glycoconjugates

   GeneDecks  ECM1 for the pathways selected above  
About GeneDecksing

1 Millipore Pathway for ECM1
 Cell adhesion Cell-matrix glycoconjugates

   GeneDecks  ECM1 for the pathways selected above  
About GeneDecksing

 Gene Network CentralTM Interacting Genes and Proteins Network for  ECM1 


4 Interacting proteins for ECM1 (ENSP000003580453) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
HSPG2ENSP000003638273STRING (score=.979)
EFEMP1ENSP000003475963STRING (score=.872)
HRASENSP000003733823STRING (score=.804)
FBLN1ENSP000002627233STRING (score=.783)
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1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB cascade ISS--
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 ECM1

(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 (ECM1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_004425

              Sigma-Aldrich siRNA for ECM1  
                     Sigma-Aldrich shRNA Panels and shRNA for ECM1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_004425  NM_022664  

REFSEQ mRNAs for ECM1 gene (2 alternative transcripts): 

NM_004425.3   NM_022664.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_004425  NM_022664  

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_004425
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_004425
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_004425 

Additional cDNA sequence: 

AK097046.1 AK097205.1 AK292435.1 AK301369.1 AK302279.1 AK316390.1 BC023505.2 CR590823.1 
CR593353.1 CR596945.1 CR603901.1 CR606666.1 CR609963.1 CR616494.1 CR622085.1 CR624464.1 
DQ010946.1 DQ112074.1 U65932.1 U68186.1 U68187.1 

19 DOTS entries:

DT.100039263  DT.416060  DT.97854836  DT.100877718  DT.86847522  DT.97854835  DT.121430331  DT.121430352 
DT.92441867  DT.95302878  DT.92441868  DT.95302900  DT.100877715  DT.121430323  DT.121430337  DT.121430369 
DT.91941510  DT.121430360  DT.40225237 

24/301 AceView cDNA sequences (see all 301 ):

BF354939 AK097205 BM919199 BQ682126 BM756612 CB126593 BU179328 CR590823 
CB125632 AU077032 CR593353 CR596945 AI928501 BQ009866 CD674431 BQ680556 
BM837393 BM854304 CA444482 BM785683 CR609963 CB528629 AI685519 BM929836 

highest scoring ESTs for ECM1:

U68186 AI143076 AI200441 AI350435 AI375958 AI685519 AI872670 AK097046 AK097205 AL540725 

Unigene Cluster for ECM1:

Extracellular matrix protein 1
Hs.81071  [show with all ESTs]
Unigene Representative Sequence: AK097205


GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for ECM1 (see all 9 )

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12
SP1:                          -                             -                             -                                                   
SP2:                          -                             -                             -                       -     -                     
SP3:                          -                                                                                                               
SP4:                          -                             -                                                                                 
SP5:                          -                                                           -                                                   

About this scheme

ECgene alternative splicing isoforms for ECM1

3 Ensembl transcripts including schematic representations:
ENST00000369049  ENST00000369047  ENST00000346569  
(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

ECM1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for ECM1

1 / 2 / 3

3 probe-sets matching ECM1 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
37600_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 U68186 1.00 1.00 1.00 1

209365_s_at2, 3 U133-A 1 1.00 1.00 -- -- U65932 0.80 1.00 0.91 1

209365_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  ECM1 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: ACTGCCCGCT

SOURCE GeneReport for Unigene cluster: Hs.81071

Expression variation in blood from EXPOLDB for ECM1

(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 ECM1 gene from 5 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
ECM11   -- extracellular matrix protein 1 83.68(n)
75.43(a)
608791  XM_845921.1  XP_851014.1 
chimpanzee
(Pan troglodytes)
ECM11   -- extracellular matrix protein 1 99.69(n)
99.26(a)
746939  XM_001169169.1  XP_001169169.1 
cow
(Bos taurus)
ECM11   -- extracellular matrix protein 1 84.02(n)
76.4(a)
524222  XM_879025.2  XP_884118.1 
rat
(Rattus norvegicus)
Ecm11   -- extracellular matrix protein 1 79.78(n)
70.69(a)
116662  NM_053882.1  NP_446334.1 
mouse
(Mus musculus)
Ecm11, 5 3 (45.40 cM)5
extracellular matrix protein 11, 5 79.22(n)1
69.57(a)1
136011  NM_007899.11  NP_031925.11 
 AF0296945  AI6638215  (see all 13)
About this table        Species with no ortholog for ECM1

ENSEMBL Gene Tree for ECM1
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

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


10/44 NCBI SNPs in ECM1 are shown (see all 44 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 36)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs37372401,2
A,C,F,H148749979(+) AGGAAC/TGCCAG 2 T/M mis19Minor allele frequency- T:0.26EA EU WA 2334
rs37542171,2
A,C,F,H148746997(+) CTCCTG/TGATTC 2 -- ng5110Minor allele frequency- T:0.45EA NA MN EU WA 3098
rs132941,2
A,C,F,H148751611(+) ACATCG/AGTCGA 2 G/S mis1 ese317Minor allele frequency- A:0.35MN EA EU WA NA 2718
rs127244501,2
C,F,H148747195(+) AGCTGG/ATCCTG 2 -- ng51 ese38Minor allele frequency- A:0.06EU EA WA 838
rs10509111,2
F,H148752624(+) CCCATC/TTGAAC 2 -- ut315Minor allele frequency- T:0.03MN EU EA WA 582
rs10509041,2
C,H148752548(+) CACCTC/TTGAGC 2 S/F mis1 ese35Minor allele frequency- T:0.00MN EU EA WA 600
--
rs67043841,2
A148753005(+) CCACAC/GCCCAG 2 -- ng310--------
rs10509011,2
H148752526(+) CTGGAG/AGAACA 2 R/G mis1 ese35Minor allele frequency- A:0.00MN EU EA WA 590
rs10508741,2
F148750082(+) CGGCTG/CGATGG 2 L/L syn11Minor allele frequency- C:0.10MN 184
rs118011901,2
C148750628(+) TGCACA/GCGGCA 2 T/T syn1 int1 ese30--------
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HapMap Linkage Disequilibrium images for ECM1 (up to first 250kb)

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

OMIM: 602201   disorders: 247100  

UniProtKB/Swiss-Prot: ECM1_HUMAN, Q16610

  • Defects in ECM1 are the cause of lipoid proteinosis (LiP) [MIM:247100]; also known as
    lipoid proteinosis of Urbach and Wiethe or hyalinosis cutis et mucosae. LiP is a rare autosomal
    recessive disorder characterized by generalized thickening of skin, mucosae and certain viscera.
    Classical features include beaded eyelid papules and laryngeal infiltration leading to hoarseness.
    Histologically, there is widespread deposition of hyaline material and disruption/reduplication of
    basement membrane
  • 10/12 Novoseek disease relationships for ECM1 gene (see all 12 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    proteinosis lipoid 98.02 52 12603844 (5), 17721643 (4), 17927570 (3), 15927815 (2) (see all 23)
    lichen sclerosus 81.77 20 12867112 (7), 15173881 (4), 15927815 (3), 15347336 (2) (see all 6)
    thyroid nodule 45.15 2 18374945 (1), 16135921 (1)
    breast carcinoma 40.85 1 14715705 (1)
    skin diseases 38.08 4 14723723 (2), 15068453 (1), 15173881 (1)
    thyroid cancer 34.67 6 16135921 (4), 16688775 (1), 18374945 (1)
    metastasis 30.00 10 16646403 (3), 18984970 (2), 19146682 (1), 11292659 (1)
    carcinoma squamous cell 14.56 1 14550953 (1)
    tumors 12.39 16 16646403 (3), 18374945 (3), 11292659 (2), 14550953 (1) (see all 7)
    cancer 0.00 2 18984970 (1), 17884004 (1)
    About this table

    1 PharmGKB disease relationship for ECM1 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Leukemia, Lymphocytic, Acute, L1FA  GN  12086872 12730115
    About this table

    Human Gene Mutation Database: ECM1

    (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

    10/75 PubMed articles for ECM1 gene (see all 75 ):
    (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: 1893 HGNC: 3153 AceView: ECM1 Ensembl:ENSG00000143369 euGenes: HUgn1893
    ECgene: ECM1 H-InvDB: ECM1
    (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

    NameDescription
    ATLAS Chromosomes in Cancer entry for ECM1 Genetics and Cytogenetics in Oncology and Haematology
    (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 ECM1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for ECM1 Antibodies for ECM1
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for ECM1 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant Proteins
    (Secretory Component Glycoprotein)
     Antibodies (Secretory Component Glycoprotein)
     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for ECM1




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Search Novus for antibodies for ECM1

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