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NAGS Gene

protein-coding   GIFtS: 60

GC17P039437
N-acetylglutamate synthase
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
AGAS 1, 2
ARGA 1, 2
EC 2.3.1.1 3
MGC133025 2
NAT7 1
Descriptions
Amino-acid acetyltransferase 3
N-acetylglutamate synthase 2
External Ids
HGNC: 179961
Entrez Gene: 1624172
UniProtKB: Q8N1593
Ensembl: ENSG000001616537
Search outside databases for aliases for NAGS gene

Previous GC identifers: GC17P041823 GC17P044259 GC17P042092 GC17P042557

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for NAGS:
The N-acetylglutamate synthase gene encodes a mitochondrial enzyme that catalyzes the formation of
N-acetylglutamate (NAG) from glutamate and acetyl coenzyme-A. NAG is a cofactor of carbamyl
phosphate synthetase I (CPSI), the first enzyme of the urea cycle in mammals. This gene may
regulate ureagenesis by altering NAG availability and, thereby, CPSI activity. Deficiencies in
N-acetylglutamate synthase have been associated with hyperammonemia. [provided by RefSeq]

UniProtKB/Swiss-Prot: NAGS_HUMAN, Q8N159
Function: Plays a role in the regulation of ureagenesis by producing variable amounts of
N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activity

(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 NAGS gene  

Entrez Gene cytogenetic band: 17q21.31   Ensembl cytogenetic band:  17q21.31   HGNC cytogenetic band: 17q21.31

NAGS 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 17         GeneLoc Exon Structure

GeneLoc location for GC17P039437:     (about GC identifiers)

Start:
39,437,558 bp from pter
End:
39,441,962 bp from pter
Size:
4,405 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000017.9  NT_010783.14  
(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: NAGS_HUMAN, Q8N159 (See protein sequence)
Recommended Name: N-acetylglutamate synthase, mitochondrial precursor  
Size: 534 amino acids; 58156 Da
Subcellular location: Mitochondrion matrix
Secondary accessions: B2RAZ9 Q8IWR4

Post-translational modifications:

  • Probably processed by mitochondrial processing peptidase (MPP). The long form has not yet been
    isolated (By similarity)1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_694551.1  

    ENSEMBL proteins: 
    ENSP00000293404 


    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 (NAGS)
    Human Recombinant Proteins from Abnova (NAGS)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739 mitochondrion IEA--
    GO:0005759 mitochondrial matrix IEA--
    About this table

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

    Assays for NAGS: 
    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

    4 InterPro domains/families:
     IPR001048 Asp/Glu/Uridylate_kinase
     IPR000182 GCN5-rel_AcTrfase
     IPR006855 DUF619
     IPR011243 GlcNAc_Synth_met


       GeneDecks  NAGS for the domains selected above  
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    Graphical View of Domain Structure for InterPro Entry Q8N159

    ProtoNet protein and cluster: Q8N159

    UniProtKB/Swiss-Prot: NAGS_HUMAN, Q8N159
    Similarity: Belongs to the acetyltransferase family
    Similarity: Contains 1 N-acetyltransferase domain

    (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 (NAGS)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (NAGS)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_153006

                  Applied Biosystems Silencer® siRNAs for NAGS

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

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_153006
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_153006
                                     untagged cDNA clone in CMV expression vector: NM_153006 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_153006

    UniProtKB/Swiss-Prot: NAGS_HUMAN, Q8N159
    Function: Plays a role in the regulation of ureagenesis by producing variable amounts of
    N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activity
    Catalytic activity: Acetyl-CoA + L-glutamate = CoA + N-acetyl-L-glutamate
    Enzyme regulation: Increased by L-arginine
    Enzyme Number (IUBMB): EC 2.3.1.1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003991 acetylglutamate kinase activity IEA--
    GO:0004042 amino-acid N-acetyltransferase activity IEA--
    GO:0008415 acyltransferase activity IEA--
    GO:0016740 transferase activity 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  NAGS  (Your Favorite Gene powered by Ingenuity) 
     Urea Cycle and Metabolism of Amino Groups

       GeneDecks  NAGS for the pathways selected above  
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    1 Kegg Pathway  (Kegg details for NAGS):
     hsa00220 Urea cycle and metabolism of amino groups

       GeneDecks  NAGS for the pathways selected above  
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    UniProtKB/Swiss-Prot: NAGS_HUMAN, Q8N159
    Pathway: Amino-acid biosynthesis; L-arginine biosynthesis; N(2)-acetyl-L-ornithine from
    L-glutamate: step 1/4


    5/22 Interacting proteins for NAGS (ENSP000002934043 Q8N1592) via UniProtKB, MINT, and/or STRING (see all 22 )

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TMEM39BQ9GZU32MINT-64900
    CPS1ENSP000002330723STRING (score=.963)
    ALDH18A1ENSP000003602683STRING (score=.917)
    ADCENSP000003625403STRING (score=.875)
    GLS2ENSP000003104473STRING (score=.874)
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000050 urea cycle IEA--
    GO:0006526 arginine biosynthetic process IEA--
    GO:0006536 glutamate metabolic process IEA--
    GO:0008152 metabolic process IEA--
    GO:0008652 amino acid biosynthetic 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 NAGS
    7 Novoseek chemical compound relationships for NAGS gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    n-acetylglutamate 98.59 105 2241918 (4), 11131349 (3), 12459178 (2), 14605506 (2) (see all 31)
    n-carbamylglutamate 97.49 14 18414145 (3), 17421020 (2), 15480384 (2), 17510757 (1)
    cpsi 89.67 9 12459178 (2), 15050968 (2), 12633501 (1), 16321554 (1)
    carbamoyl phosphate 88.88 10 12459178 (1), 15050968 (1), 12594532 (1), 15164414 (1) (see all 7)
    urea 68.13 16 18666241 (2), 12459178 (1), 12754705 (1), 12633501 (1) (see all 10)
    acetyl-coa 57.90 4 16321554 (1), 12447942 (1)
    ornithine 56.26 3 12633501 (1), 15164414 (1), 2105747 (1)
    About this table


    (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 (NAGS)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (NAGS)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_153006

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

    Applied Biosystems Silencer® siRNAs: 

    NM_153006  

    REFSEQ mRNAs for NAGS gene: 

    NM_153006.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_153006  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_153006
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_153006
                                     untagged cDNA clone in CMV expression vector: NM_153006 

    Additional cDNA sequence: 

    AK074407.1 AK300923.1 AK314432.1 AY116538.1 AY158070.1 BC111713.1 

    3 DOTS entries:

    DT.100021284  DT.40107565  DT.410925 

    24/34 AceView cDNA sequences (see all 34 ):

    NM_153006 BF589712 AY116538 AI193178 BX106329 AX747266 AI076316 AI241153 
    W86007 CK724890 AY158070 AK074407 AA703140 AK091938 BI909116 BE222718 
    AI470965 AA385859 AA700249 AV696264 N46975 T48765 BF195825 N34056 

    highest scoring ESTs for NAGS:

    AI076316 AA385859 AA700249 AA703140 AI193178 AI241153 AI470965 AI952208 AK074407 AV696264 

    Unigene Cluster for NAGS:

    N-acetylglutamate synthase
    Hs.8876  [show with all ESTs]
    Unigene Representative Sequence: NM_153006


    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NAGS

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

    About this scheme

    ECgene alternative splicing isoforms for NAGS

    1 Ensembl transcript including schematic representation:
    ENST00000293404  
    (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

    NAGS expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for NAGS

    1 / 2 / 3

    3 probe-sets matching NAGS gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    47145_at2, 3 U95-B 1 1.00 1.00 1.00 1.00 AI076316 1.00 1.00 1.00 1

    229432_at2, 3 U133-B 1 1.00 1.00 -- -- AV696264 0.80 1.00 0.91 1

    229432_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  NAGS 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: ACCCCAGGCA

    SOURCE GeneReport for Unigene cluster: Hs.8876

    UniProtKB/Swiss-Prot: NAGS_HUMAN, Q8N159
    Tissue specificity: Highly expressed in the adult liver, kidney and small intestine. Weakly
    expressed in the fetal liver, lung, pancreas, placenta, heart and brain tissue

    (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 NAGS gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    NAGS1   -- N-acetylglutamate synthase 87.39(n)
    88.39(a)
    490943  XM_548066.2  XP_548066.2 
    chimpanzee
    (Pan troglodytes)
    NAGS1   -- N-acetylglutamate synthase 99.69(n)
    99.81(a)
    468274  XM_001152480.1  XP_001152480.1 
    cow
    (Bos taurus)
    NAGS1   -- N-acetylglutamate synthase 86.64(n)
    87.08(a)
    538004  XM_618194.3  XP_618194.2 
    rat
    (Rattus norvegicus)
    Nags1   -- N-acetylglutamate synthase 83.49(n)
    86.91(a)
    303563  XM_220939.3  XP_220939.1 
    mouse
    (Mus musculus)
    Nags1, 5 115
    N-acetylglutamate synthase1, 5 83.24(n)1
    86.72(a)1
    2172141  NM_145829.11  NP_665828.11 
     AF4620695  AI4157085  (see all 10)
    About this table        Species with no ortholog for NAGS

    ENSEMBL Gene Tree for NAGS
    (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


    10/23 NCBI SNPs in NAGS are shown (see all 23 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 30)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 17 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs1866361,2
    A,C,F,H39441498(-) GGTGAG/AGGTCA 1 -- ut31 ese310Minor allele frequency- A:0.32MN EA EU WA NA 2460
    rs6406311,2
    A,C,F,H39441706(+) CAACTT/CGACTC 1 -- ut31 ese39Minor allele frequency- C:0.09MN EU EA WA 1018
    --
    rs1890521,2
    A,C39442028(-) gtcttA/Taaaaa 1 -- ng310--------
    rs19943661,2
    A,C39442337(+) GGGAGG/TAGAAG 1 -- ng310--------
    --
    rs1706391,2
    A,C,F39440878(-) TGGGGG/CTTAGG 1 -- int11Minor allele frequency- C:0.01MN 184
    rs2287701,2
    A,C39439366(-) CCCCTA/GCCCCC 1 -- int10--------
    rs2287731,2
    A,C39440676(-) GTGGCA/GGGACC 1 -- int10--------
    rs2287721,2
    A,C39439903(-) TCTCCC/TGGTCG 1 -- int10--------
    rs2287711,2
    F39439623(-) TCCCCC/GGCCCG 1 -- int11Minor allele frequency- G:0.44MN 184
    --
    rs98939711,2
    --39442094(+) cagccC/Ttgacc 1 -- ng310--------
    About this table

    HapMap Linkage Disequilibrium images for NAGS (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: 608300   disorders: 237310  

    UniProtKB/Swiss-Prot: NAGS_HUMAN, Q8N159

  • Defects in NAGS are the cause of N-acetylglutamate synthase deficiency (NAGSD)
    [MIM:237310]. NAGSD is a rare autosomal recessively inherited metabolic disorder leading to severe
    neonatal or late onset hyperammonemia without increased excretion of orotic acid. Clinical
    symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation
    characterized by uncontrollable movements, developmental delay, visual impairment, failure to
    thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness
  • 2 Novoseek disease relationships for NAGS gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    nags deficiency 99.29 53 17510757 (5), 17421020 (4), 12594532 (3), 18414145 (3) (see all 18)
    hyperammonemia 90.59 18 12594532 (2), 18414145 (2), 11131349 (2), 12459178 (1) (see all 13)
    About this table

    Human Gene Mutation Database: NAGS
    Genetic Association Database: NAGS

    (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

    10/35 PubMed articles for NAGS gene (see all 35 ):
    (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: 162417 HGNC: 17996 AceView: NAGS Ensembl:ENSG00000161653 euGenes: HUgn162417
    ECgene: NAGS H-InvDB: NAGS
    (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
    GeneReviewshttp://www.genetests.org/query?gene=NAGS
    Wikipedia http://en.wikipedia.org/wiki/N-acetylglutamate_synthase
    (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 NAGS:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Antibodies for NAGS

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