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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TMEM51 Gene

protein-coding GIFtS: 46
GCID: GC01P015479

transmembrane protein 51

(Previous name: chromosome 1 open reading frame 72 )
(Previous symbol: C1orf72)

Search for TMEM51
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Transmembrane Protein 51¹ ²
C1orf72¹ ² ³
FLJ10199¹
Chromosome 1 Open Reading Frame 72¹

External Ids:	HGNC: 25488¹	Entrez Gene: 55092²	Ensembl: ENSG00000171729⁷	UniProtKB: Q9NW97³

Export aliases for TMEM51 gene to outside databases

Previous GC identifers: GC01P015225 GC01P015352 GC01P013998

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004610.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TMEM51 gene promoter:
TGIF ITF-2 Tal-1beta
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TMEM51 promoter sequence

Search SABiosciences Chromatin IP Primers for TMEM51

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM51

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.21 Ensembl cytogenetic band: 1p36.21 HGNC cytogenetic band: 1p36.21

TMEM51 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM51 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P015479: view genomic region (about GC identifiers)

Start:	15,479,028 bp from pter	End:	15,546,974 bp from pter
Size:	67,947 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TMM51_HUMAN, Q9NW97 (See protein sequence)

Recommended Name: Transmembrane protein 51

Size: 253 amino acids; 27759 Da

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Secondary accessions: A8K819

Explore the universe of human proteins at neXtProt for TMEM51: NX_Q9NW97

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NW97

TMEM51 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001129688.1 NP_001129689.1 NP_001129690.1 NP_060492.1

ENSEMBL proteins:

ENSP00000365182 ENSP00000412298 ENSP00000365176 ENSP00000303666 ENSP00000394899

ENSP00000409665 ENSP00000383600

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	Uscn Proteins for TMEM51

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--

TMEM51 for ontologies About GeneDecksing

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

ProtoNet protein and cluster: Q9NW97

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMEM51
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM51

1 GenomeRNAi human phenotype for TMEM51:

Increased gamma-H2AX phosphory

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TMEM51

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

2 Interacting proteins for TMEM51 (Q9NW97^{2, 3} ENSP00000303666⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MRPL12	P52815²^,³, ENSP00000333837⁴	MINT-63866 I2D: score=4 STRING: ENSP00000333837
CREB3	O43889³	I2D: score=1

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TMEM51
Search CenterWatch for drugs/clinical trials and news about TMEM51 / TMM51

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TMEM51 gene (4 alternative transcripts):

NM_001136216.1 NM_001136217.1 NM_001136218.1 NM_018022.2

Unigene Cluster for TMEM51:

Transmembrane protein 51

Hs.465305 [show with all ESTs]

Unigene Representative Sequence: AK129922

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000376014 ENST00000451326 ENST00000376008 ENST00000303840 ENST00000428417(uc001avw.4 uc010obk.2)

ENST00000434578(uc001avz.3 uc001avy.3) ENST00000400796(uc001avx.3)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMEM51
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM51:
		hsa-miR-3163 hsa-miR-212 hsa-miR-132
		SwitchGear 3'UTR luciferase reporter plasmid: TMEM51 3' UTR sequence

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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMEM51

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM51
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM51

Additional cDNA sequence:

AK001061.1 AK098467.1 AK129922.1 AK292184.1 BC000202.1 BC000593.2 BC005177.2 CR457120.1

10 DOTS entries:

DT.92427695 DT.214401 DT.95374797 DT.92427694 DT.100792006 DT.92427687 DT.92427691 DT.100792013

DT.92427685 DT.95297299

24/120 AceView cDNA sequences (see all 120):

AA922995 AA907184 AI268242 CR599423 AI031698 AI216532 AW118985 CB528679

CR607065 AI471253 AW300762 BM551866 BX329517 BM263439 CA306733 AK098467

AI758438 BM973312 AA693942 BG765829 CB305360 AA935299 AA987288 BU633463

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM51 (see all 7) About this scheme

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

ECgene alternative splicing isoforms for TMEM51

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TMEM51 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAATGGAGCT

About this image

TMEM51 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

Sclerotome cells (Primary Cell)

Bone, Cartilage, Somite

PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)

Heart, Myocardium, Smooth Muscle

PureStem™ progenitor E44 (Embryonic Progenitor Cell)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TMEM51 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TMEM51

SOURCE GeneReport for Unigene cluster: Hs.465305

SABiosciences Custom PCR Arrays for TMEM51

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TMEM51 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM51

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM51

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for TMEM51 gene from 5/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Tmem51^{1 , 5}	transmembrane protein 51^{1, 5}	82.86(n)¹ 85.94(a)¹		4 (75.17 cM)⁵ 214359¹ NM_145402.3¹ NP_663377.1¹ 142030992⁵
chicken (Gallus gallus)	Aves	TMEM51⁶	Uncharacterized protein	65(a)	1 ↔ 1	21(5024908-5028606)
lizard (Anolis carolinensis)	Reptilia	TMEM51⁶	--	59(a)	1 ↔ 1	GL343969.1(48502-49380)
African clawed frog (Xenopus laevis)	Amphibia	BC043820.1²	--	76.48(n)		BC043820.1
zebrafish (Danio rerio)	Actinopterygii	tmem51a¹	transmembrane protein 51a	49.85(n) 40.37(a)		777622 NM_001077730.1 NP_001071198.1

ENSEMBL Gene Tree for TMEM51 (if available)
TreeFam Gene Tree for TMEM51 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs140475372^1,2		--	15477203(+)	`CATAAC/GGCAGA`	3	--	us2k¹ int¹		0	--	--	--	--
rs61782693^1,2	C,	--	15477263(+)	`GCTGAC/GACTCC`	3	--	int¹ us2k¹		4		NA WA EA	360
rs61782694^1,2	C,	--	15477364(+)	`TATCAC/TCACAT`	3	--	us2k¹ int¹		4		NA WA EA	360
rs182119214^1,2		--	15477388(+)	`TCTGAA/CCCTCC`	3	--	us2k¹ int¹		0	--	--	--	--
rs147068484^1,2		--	15477461(+)	`CTCCCC/TGTCCC`	3	--	us2k¹ int¹		0	--	--	--	--
rs138080724^1,2		--	15477504(+)	`CCTTTG/TGCCAC`	3	--	int¹ us2k¹		0	--	--	--	--
rs143603850^1,2		--	15477510(+)	`GCCACA/GTAAAG`	3	--	int¹ us2k¹		0	--	--	--	--
rs114157287^1,2	F,	--	15477613(+)	`AAGGGC/TCCTGC`	3	--	int¹ us2k¹		1		WA	118
rs146047344^1,2		--	15477638(+)	`CAAATA/GCTTTG`	3	--	int¹ us2k¹		0	--	--	--	--
rs7555700^1,2	C,F,A,H,	--	15477658(+)	`AGCAGA/CTCCAG`	3	--	int¹ us2k¹		18		NS EA WA NA	2040

HapMap Linkage Disequilibrium report for TMEM51 (15479028 - 15546974 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for TMEM51
4 CNVs: 8319 84082 5468 37850

SABiosciences Cancer Mutation PCR Assays

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DNA2.0 Custom Variant and Variant Library Synthesis for TMEM51

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TMEM51 for disorders About MalaCards

TMEM51 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: TMEM51 (1 document)

Export disorders for TMEM51 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TMEM51 gene integrated from 9 sources:
(articles sorted by number of sources associating them with TMEM51)

Utopia: connect your pdf to the dynamic
world of online information

The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)^{1, 3} Strausberg R.L....Marra M.A. (2002)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)¹ Stelzl U.... Wanker E.E. (2005)
Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)¹ Suzuki Y.... Sugano S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 55092	HGNC: 25488	AceView: FLJ10199	Ensembl:ENSG00000171729	euGenes: HUgn55092
ECgene: TMEM51	H-InvDB: TMEM51

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for TMEM51	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TMEM51	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for TMEM51 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TMEM51 gene:
Search GeneIP for patents involving TMEM51

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM51

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes TMEM51 gene at Home site.

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TMEM51 Gene

transmembrane protein 51

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TMEM51 Gene

transmembrane protein 51

Aliasesfor TMEM51 gene

Summariesfor TMEM51 gene

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Protein Domains /Familiesfor TMEM51 gene

Functionfor TMEM51 gene

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for TMEM51 gene

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for TMEM51 gene

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for TMEM51 gene

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for TMEM51 gene

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