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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

UPK1A Gene

protein-coding GIFtS: 53
GCID: GC19P036157

uroplakin 1A

Explore 14 diseases affiliated with
UPK1A via

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
Uroplakin 1A¹ ²		Tspan-21³
TSPAN21¹ ² ³		Uroplakin-1a¹
Uroplakin Ia² ³		Tetraspanin-21³
UPIA² ⁵		Tspan-21³
UP1A²		UP1a³
UPKA²		UPIa³
Tetraspanin-21³		UPKa³

External Ids:	HGNC: 12577¹	Entrez Gene: 11045²	Ensembl: ENSG00000105668⁷	OMIM: 611557⁵	UniProtKB: O00322³

Export aliases for UPK1A gene to outside databases

Previous GC identifers: GC19P036796 GC19P036606 GC19P040833 GC19P040849 GC19P032663

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

Entrez Gene summary for UPK1A:

The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family.

Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains.

The proteins mediate signal transduction events that play a role in the regulation of cell development, activation,

growth and motility. This encoded protein is found in the asymmetrical unit membrane (AUM) where it can complex with

other transmembrane 4 superfamily proteins. It may play a role in normal bladder epithelial physiology, possibly in

regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through

AUM/cytoskeletal interactions. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: UPK1A_HUMAN, O00322

Function: Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally

differentiated urothelial cells. May play an important role in normal bladder epithelial physiology, possibly in

regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through

AUM/cytoskeletal interactions (By similarity)

Gene Wiki entry for UPK1A

(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_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the UPK1A gene promoter:
USF1 Elk-1 AML1a Tal-1beta c-Ets-1 YY1 USF-1 ARP-1 ITF-2 Ik-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: UPK1A promoter sequence

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UPK1A

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

Entrez Gene cytogenetic band: 19q13.13 Ensembl cytogenetic band: 19q13.12 HGNC cytogenetic band: 19q13.1

UPK1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UPK1A gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P036157: view genomic region (about GC identifiers)

Start:	36,157,715 bp from pter	End:	36,169,367 bp from pter
Size:	11,653 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: UPK1A_HUMAN, O00322 (See protein sequence)

Recommended Name: Uroplakin-1a

Size: 258 amino acids; 28879 Da

Subunit: Homodimer; disulfide-linked. Interacts with uroplakin-2 (UPK2) (By similarity)

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: Q3KNU5 Q3KNU6

Alternative splicing: 2 isoforms: O00322-1 O00322-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UPK1A: NX_O00322

UPK1A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_008931.1

ENSEMBL proteins:

ENSP00000368298 ENSP00000222275

Human Recombinant Protein Products for UPK1A:

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Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	ISS	--
GO:0005886	plasma membrane	TAS	15088894
GO:0016021	integral to membrane	ISS	--
GO:0016324	apical plasma membrane	IEA	--

UPK1A 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

UPK1A for domains About GeneDecksing

3 InterPro domains/families:

IPR018499 Tetraspanin/Peripherin

IPR000301 Tetraspanin

IPR008952 Tetraspanin_EC2

Graphical View of Domain Structure for InterPro Entry O00322

ProtoNet protein and cluster: O00322

1 Blocks protein family: IPB000301 Transmembrane four family signature

UniProtKB/Swiss-Prot: UPK1A_HUMAN, O00322

Similarity: Belongs to the tetraspanin (TM4SF) family

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: UPK1A_HUMAN, O00322

Function: Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally

differentiated urothelial cells. May play an important role in normal bladder epithelial physiology, possibly in

regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through

AUM/cytoskeletal interactions (By similarity)

Genatlas biochemistry entry for UPK1A:

uroplakin 1A,urothelium specific transmembrane protein forming 12nm protein particles in association with other UPKs,at

the asymetric unit membrane of the bladder epithelium,strenghthening and stabilizing the urothelial epithelial surface

trough its interactions with the underlying cytoskeleton,continuously expressed by the majority of transitional cell

carcinoma of the bladder (TCC), in a region of partial synteny to chromosome 11

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--
GO:0042803	protein homodimerization activity	ISS	--
GO:0048029	monosaccharide binding	ISS	--

UPK1A for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for UPK1A:

Increased G1 DNA content

Increased cell size

Increased gamma-H2AX phosphory

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for UPK1A

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In Situ Assay
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(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 UPK1A

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

1 Interacting protein for UPK1A (O00322³ ENSP00000222275⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UPK2	O00526³, ENSP00000264031⁴	I2D: score=2 STRING: ENSP00000264031

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030855	epithelial cell differentiation	IDA	10514386
GO:0051259	protein oligomerization	ISS	--

UPK1A for ontologies About GeneDecksing

(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

UPK1A for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for UPK1A
1 Novoseek chemical compound relationship for UPK1A gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mannose	57.2	3	16567801 (2)

Search CenterWatch for drugs/clinical trials and news about UPK1A

(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 UPK1A gene:

NM_007000.2

Unigene Cluster for UPK1A:

Uroplakin 1A

Hs.159309 [show with all ESTs]

Unigene Representative Sequence: NM_007000

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

ENST00000379013(uc010eeh.3) ENST00000222275(uc002oaw.3)

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Additional cDNA sequence:

AF085807.1 BC107097.1 BC107098.1

2 DOTS entries:

DT.40233466 DT.121498486

6 AceView cDNA sequences:

AI633692 AI784039 NM_007000 AF085807 AW629730 AA548647

GeneLoc Exon Structure

(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

UPK1A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCAGGCATCG

About this image

UPK1A expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lower Urinary Tract

Ureter

Ureter Cells

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See UPK1A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for UPK1A

SOURCE GeneReport for Unigene cluster: Hs.159309

UniProtKB/Swiss-Prot: UPK1A_HUMAN, O00322

Tissue specificity: High expression restricted to ureteric urothelium (most superficial cells); low expression in

prostate. Expression in normal urothelial cells is lost in culture. Some expression in tumor cell lines derived from

urothelial malignancies

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In Situ
Assay Products:

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(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 UPK1A gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Upk1a^{1 , 5}	uroplakin 1A^{1, 5}	87.63(n)¹ 93.36(a)¹		7 (18.78 cM)⁵ 109637¹ NM_026815.2¹ NP_081091.1¹ 30603092⁵
lizard (Anolis carolinensis)	Reptilia	UPK1A⁶	--	62(a)	1 ↔ 1	GL343276.1(1352464-1368675)
African clawed frog (Xenopus laevis)	Amphibia	Xl.8143²	Xenopus laevis transcribed sequence with weak similarity more	77.38(n)		BX851388.1
zebrafish (Danio rerio)	Actinopterygii	upk1a¹	uroplakin 1a	53.66(n) 46.75(a)		678515 NM_001040242.1 NP_001035332.1

ENSEMBL Gene Tree for UPK1A (if available)
TreeFam Gene Tree for UPK1A (if available)

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

Paralogs for UPK1A gene

UPK1B²

1 SIMAP similar gene for UPK1A using alignment to 1 protein entry: UPK1A_HUMAN:

UPK1B

UPK1A for paralogs About GeneDecksing

(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 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12974831^1,2	H	--	36155732(+)	`cgaggT/Gtcaag`	1	--	us2k¹		4		NS EA	420
rs190953027^1,2		--	36155794(+)	`CACCAC/TGACTG`	1	--	us2k¹		0	--	--	--	--
rs148780212^1,2		--	36155844(+)	`GTTAGG/TCAGCC`	1	--	us2k¹		0	--	--	--	--
rs183405009^1,2		--	36155869(+)	`CCCCCC/GACCCT`	1	--	us2k¹		0	--	--	--	--
rs188961950^1,2		--	36155968(+)	`CAAATG/TAACCA`	1	--	us2k¹		0	--	--	--	--
rs192507932^1,2		--	36155997(+)	`TCATGC/TATCTT`	1	--	us2k¹		0	--	--	--	--
rs115791190^1,2	F	--	36156119(+)	`TTGGGG/ATTGAG`	1	--	us2k¹		1		WA	118
rs182649596^1,2		--	36156130(+)	`AAGTTC/GTGGGG`	1	--	us2k¹		0	--	--	--	--
rs142446720^1,2		--	36156135(+)	`CTGGGG/TACGGT`	1	--	us2k¹		0	--	--	--	--
rs151319517^1,2		--	36156194(+)	`CGAGGA/GCGTGG`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for UPK1A (36157715 - 36169367 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for UPK1A
1 CNV: 10552

SABiosciences Cancer Mutation PCR Assays

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

UPK1A for disorders           About GeneDecksing

OMIM gene information: 611557    OMIM disorders: --

14 diseases for UPK1A:    About MalaCards

alpha-mannosidosis vesicoureteral reflux ovarian brenner tumor bladder transitional cell carcinoma

transitional cell carcinoma esophageal squamous cell carcinoma mannosidosis squamous cell carcinoma

cystitis carcinoma esophagitis prostatitis

interstitial cystitis urinary tract infection

2 diseases from the University of Copenhagen DISEASES database for UPK1A:

Vesicoureteral reflux Cystitis

3 Novoseek disease relationships for UPK1A gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
carcinoma transitional cell	52.3	1	12474225 (1)
bladder cancer	29.8	1	10404304 (1)
metastasis	0	1	12474225 (1)

Genetic Association Database (GAD): UPK1A
Human Genome Epidemiology (HuGE) Navigator: UPK1A (1 document)

Export disorders for UPK1A 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 UPK1A gene, integrated from 9 sources (see all 32):
(articles sorted by number of sources associating them with UPK1A)

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

Uroplakin gene expression by normal and neoplastic human urothelium. (PubMed id 9846985)^{1, 2, 3} Lobban E.D.... Southgate J. (1998)
Expression of transitional cell-specific genes, uroplakin Ia and II, in bladder cancer: detection of circulating cancer cells in the peripheral blood of metastatic patients. (PubMed id 10404304)^{1, 3, 9} Yuasa T....Okada Y. (1999)
Transcriptional control of the human urothelial-specific gene, uroplakin Ia. (PubMed id 15913809)^{1, 2, 9} Hall G.D.... Chester J.D. (2005)
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)
Lack of major involvement of human uroplakin genes in vesicoureteral reflux: implications for disease heterogeneity. (PubMed id 15200408)^{1, 4} Jiang S....Sun T.T. (2004)
The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)^{1, 2} Grimwood J.... Lucas S.M. (2004)
Selective interactions of UPIa and UPIb, two members of the transmembrane 4 superfamily, with distinct single transmembrane-domained proteins in differentiated urothelial cells. (PubMed id 8530366)^{1, 9} Wu X.R....Sun T.T. (1995)
Characterization of a candidate tumor suppressor gene uroplakin 1A in esophageal squamous cell carcinoma. (PubMed id 20978196)¹ Kong K.L....Guan X.Y. (2010)
Uropathogenic E. coli adhesin-induced host cell recep tor conformational changes: implications in transmembrane signaling transductio n. (PubMed id 19577575)¹ Wang H....Kong X.P. (2009)
Expression profiles and pathway analysis in HEK 293 T cells overexpressing HIV-1 Tat and nucleocapsid using cDNA microarray. (PubMed id 18051367)¹ Park S.E....Park J.H. (2007)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 11045	HGNC: 12577	AceView: UPK1A	Ensembl:ENSG00000105668	euGenes: HUgn11045
ECgene: UPK1A	H-InvDB: UPK1A

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for UPK1A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for UPK1A gene
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Patent Information for UPK1A gene:
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