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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FBXL13 Gene

protein-coding GIFtS: 45
GCID: GC07M102453

F-box and leucine-rich repeat protein 13

Search for FBXL13
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
F-Box And Leucine-Rich Repeat Protein 13¹ ² ³
Fbl13¹ ²
MGC21636¹
F-Box/LRR-Repeat Protein 13²
FBL13³

External Ids:	HGNC: 21658¹	Entrez Gene: 222235²	Ensembl: ENSG00000161040⁷	OMIM: 609080⁵	UniProtKB: Q8NEE6³

Export aliases for FBXL13 gene to outside databases

Previous GC identifers: GC07M102014 GC07M102047 GC07M102240 GC07M096815

(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 FBXL13:

Members of the F-box protein family, such as FBXL13, are characterized by an approximately 40-amino acid F-box motif.

SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as

protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination

targets through other protein interaction domains (Jin et al., 2004 (PubMed 15520277)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: FXL13_HUMAN, Q8NEE6

Function: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex (By

similarity)

(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_000007.13 NC_018918.1 NT_007933.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FBXL13 gene promoter:
GR STAT1 Zic1 GR-alpha Nkx5-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): FBXL13 promoter sequence

Search SABiosciences Chromatin IP Primers for FBXL13

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FBXL13

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

Entrez Gene cytogenetic band: 7q22.1 Ensembl cytogenetic band: 7q22.1 HGNC cytogenetic band: 7q22.1

FBXL13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FBXL13 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M102453: view genomic region (about GC identifiers)

Start:	102,453,308 bp from pter	End:	102,715,288 bp from pter
Size:	261,981 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 101,813,674-102,075,654

(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: FXL13_HUMAN, Q8NEE6 (See protein sequence)

Recommended Name: F-box/LRR-repeat protein 13

Size: 735 amino acids; 83924 Da

Subunit: Directly interacts with SKP1 and CUL1 (By similarity)

Sequence caution: Sequence=CAD28506.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: C9J565 C9J566 Q6UVW7 Q6UVW8 Q75MN5 Q86UJ5 Q8N7Y4 Q8TCL2 Q8WUF9 Q8WUG0

Alternative splicing: 4 isoforms: Q8NEE6-1 Q8NEE6-2 Q8NEE6-3 Q8NEE6-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FBXL13: NX_Q8NEE6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NEE6

FBXL13 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001104508.1 NP_659469.3

ENSEMBL proteins:

ENSP00000368607 ENSP00000405434 ENSP00000388608 ENSP00000321927 ENSP00000409716

ENSP00000391550 ENSP00000390126 ENSP00000377367 ENSP00000368610 ENSP00000368608

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

FBXL13 for domains About GeneDecksing

2 InterPro domains/families:

IPR006553 Leu-rich_rpt_Cys-con_subtyp

IPR001810 F-box_dom_cyclin-like

Graphical View of Domain Structure for InterPro Entry Q8NEE6

ProtoNet protein and cluster: Q8NEE6

UniProtKB/Swiss-Prot: FXL13_HUMAN, Q8NEE6

Similarity: Contains 1 F-box domain

Similarity: Contains 17 LRR (leucine-rich) repeats

(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

Function Summary:

UniProtKB/Swiss-Prot: FXL13_HUMAN, Q8NEE6

Function: Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex (By

similarity)

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FBXL13

3 GenomeRNAi human phenotypes for FBXL13:

Increased G1 DNA content

Increased cell death HMECs cel

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 FBXL13

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

5/80 Interacting proteins for FBXL13 (Q8NEE6² ENSP00000321927⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 80)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AGO1	Q9UL18², ENSP00000362300⁴	MINT-6488590 STRING: ENSP00000362300
ATP5C1	P36542²	MINT-6488590
DHX15	O43143²	MINT-6488590
DHX30	Q7L2E3²	MINT-6488590
DHX36	Q9H2U1²	MINT-6488590

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 FBXL13
Search CenterWatch for drugs/clinical trials and news about FBXL13 / FXL13

(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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About This Section

REFSEQ mRNAs for FBXL13 gene (2 alternative transcripts):

NM_001111038.1 NM_145032.3

Unigene Cluster for FBXL13:

F-box and leucine-rich repeat protein 13

Hs.660029 [show with all ESTs]

Unigene Representative Sequence: NM_145032

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

ENST00000379305 ENST00000448002 ENST00000436908 ENST00000313221 ENST00000456695

ENST00000480422 ENST00000455112 ENST00000477915 ENST00000468216 ENST00000471074(uc003vav.2)

ENST00000440067 ENST00000393772(uc003vaq.2 uc003vas.2) ENST00000379308(uc010lir.1 uc003var.2)

ENST00000379306(uc010liq.1)

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Additional cDNA sequence:

AK021560.1 AK095387.1 AK097537.1 AL713709.1 AY359238.1 AY359239.1 BC020572.2 BC020575.2

BC026121.1 BC031285.1

9 DOTS entries:

DT.40291861 DT.97836046 DT.91756103 DT.91680332 DT.92043870 DT.75164045 DT.102842563 DT.40265996

DT.91819595

24/30 AceView cDNA sequences (see all 30):

BC020572 AK097537 AL713709 BC020575 CA428958 NM_145032 BE619161 BC031285

BG717734 AA515555 BX956914 BG723564 BG167998 AY359238 AK095387 BG035396

BQ214016 BP371079 AY359239 BC026121 BP371152 BI562703 BM470112 BG722545

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

FBXL13 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGATAAGAG

About this image

FBXL13 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

PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)

Endothelium

PureStem™ progenitor EN27 (Embryonic Progenitor Cell)

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FBXL13 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FBXL13

SOURCE GeneReport for Unigene cluster: Hs.660029

SABiosciences Custom PCR Arrays for FBXL13

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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 eukaryotes.

Orthologs for FBXL13 gene from 4/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	FBXL13⁶	Uncharacterized protein	42(a)	1 ↔ 1	1(13802183-13884042)
lizard (Anolis carolinensis)	Reptilia	FBXL13⁶	--	53(a)	1 ↔ 1	5(95236944-95262290)
thale cress (Arabidopsis thaliana)	eudicotyledons	EBF1¹	EIN3-binding F-box protein 1	39.41(n) 27.07(a)		817087 NM_128106.3 NP_565597.1
rice (Oryza sativa)	Liliopsida	Os02g0200900¹	hypothetical protein	39.39(n) 25.37(a)		4328647 NM_001052757.1 NP_001046222.1

ENSEMBL Gene Tree for FBXL13 (if available)
TreeFam Gene Tree for FBXL13 (if available)

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

Paralogs for FBXL13 gene

FBXL17² FBXL2² FBXL20² ENSG00000237102² FBXL16² FBXL7² AMN1² LRRC29²

FBXL15² FBXL4² FBXL14²

1 SIMAP similar gene for FBXL13 using alignment to 4 protein entries: FXL13_HUMAN (see all proteins):

FBXL2

FBXL13 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 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs192555372^1,2		--	102452860(+)	`AGACAC/TTGCAG`	2	--	ds500¹		0	--	--	--	--
rs151315202^1,2		--	102452885(+)	`TTCAGA/GTAGTT`	2	--	ds500¹		0	--	--	--	--
rs17396029^1,2	C,F,H,	--	102452988(+)	`GTCTGG/AAAACC`	2	--	ds500¹		12		NA NS EA	1066
rs183223788^1,2		--	102453084(+)	`TTATTA/CCCCTG`	2	--	ds500¹		0	--	--	--	--
rs116982023^1,2	C,F,	--	102453209(+)	`TGTAGA/GTTTTA`	2	--	ds500¹		1		NA	120
rs187959234^1,2		--	102453312(+)	`TGAGAC/TGGAGT`	2	--	ut3¹		0	--	--	--	--
rs10248082^1,2	C,	--	102453331(+)	`gtcgcC/Tgaggc`	2	--	ut3¹		0	--	--	--	--
rs192194525^1,2		--	102453376(+)	`CCTCCA/GCCTCT`	2	--	ut3¹		0	--	--	--	--
rs138495850^1,2		--	102453450(+)	`ACACCC/TGGCTA`	2	--	ut3¹		0	--	--	--	--
rs141209534^1,2		--	102453474(+)	`TAGTAA/GAGATG`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for FBXL13 (102453308 - 102703308 bp, first 250kb of FBXL13)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 12 variations for FBXL13
6 CNVs: 9065 70021 94767 36597 100059 2106
6 Indels: 42345 62705 52040 100060 47194 12952

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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

FBXL13 for disorders About MalaCards

FBXL13 for disorders About GeneDecksing

OMIM gene information: 609080 OMIM disorders: --

Human Genome Epidemiology (HuGE) Navigator: FBXL13 (1 document)

Export disorders for FBXL13 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 FBXL13 gene integrated from 9 sources:
(articles sorted by number of sources associating them with FBXL13)

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

Isolation and analysis of candidate myeloid tumor suppressor genes from a commonly deleted segment of 7q22. (PubMed id 15820312)^{1, 2} Curtiss N.P.... Shannon K.M. (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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{1, 2} Hillier L.W.... Wilson R.K. (2003)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
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)
Systematic analysis and nomenclature of mammalian F-box proteins. (PubMed id 15520277)¹ Jin J....Harper J.W. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Toward a complete human genome sequence. (PubMed id 9847074)¹ Wilson R. (1998)

(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: 222235	HGNC: 21658	AceView: FBXL13	Ensembl:ENSG00000161040	euGenes: HUgn222235
ECgene: FBXL13	H-InvDB: FBXL13

(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 FBXL13	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FBXL13 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FBXL13 gene:
Search GeneIP for patents involving FBXL13

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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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat FBXL13
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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
GIFtS Group

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 FBXL13 gene at Home site.

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FBXL13 Gene

F-box and leucine-rich repeat protein 13

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FBXL13 Gene

F-box and leucine-rich repeat protein 13

Aliasesfor FBXL13 gene

Summariesfor FBXL13 gene

Genomic Viewsfor FBXL13 gene

Proteinsfor FBXL13 gene

Protein Domains /Familiesfor FBXL13 gene

Functionfor FBXL13 gene

Pathways & Interactionsfor FBXL13 gene

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