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NAGS Gene

protein-coding   GIFtS: 60
GCID: GC17P042082

N-Acetylglutamate Synthase

  See NAGS-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
N-Acetylglutamate Synthase1 2
Amino-Acid Acetyltransferase2 3
AGAS2
ARGA2
N-Acetylglutamate Synthase, Mitochondrial2
EC 2.3.1.13

External Ids:    HGNC: 179961   Entrez Gene: 1624172   Ensembl: ENSG000001616537   OMIM: 6083005   UniProtKB: Q8N1593   

Export aliases for NAGS gene to outside databases

Previous GC identifers: GC17P041823 GC17P044259 GC17P042092 GC17P042557 GC17P039437 GC17P037846


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NAGS Gene:
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, Jul 2008)

GeneCards Summary for NAGS Gene:
NAGS (N-acetylglutamate synthase) is a protein-coding gene. Diseases associated with NAGS include urea cycle disorder, and n-acetylglutamate synthase deficiency. GO annotations related to this gene include acetyl-CoA:L-glutamate N-acetyltransferase activity.

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 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the NAGS gene promoter:
         LHX3b/Lhx3b   AML1a   Sp1   LHX3a/Lhx3a   Nkx2-5   LCR-F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNAGS promoter sequence
   Search Chromatin IP Primers for NAGS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NAGS


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

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)
NAGS gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P042082:  view genomic region     (about GC identifiers)

Start:
42,081,914 bp from pter      End:
42,086,436 bp from pter
Size:
4,523 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
1 PDB 3D structure from and Proteopedia for NAGS:
4K30 (3D)    
Secondary accessions: B2RAZ9 Q8IWR4

Explore the universe of human proteins at neXtProt for NAGS: NX_Q8N159

Explore proteomics data for NAGS at MOPED

Post-translational modifications: 

  • Probably processed by mitochondrial processing peptidase (MPP). The long form has not yet been isolated (By
    similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NAGS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_694551.1  
    ENSEMBL proteins: 
     ENSP00000293404   ENSP00000465408  
    Reactome Protein details: Q8N159

    NAGS Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for NAGS

     
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    antibodies-online proteins for NAGS (19 products) 

     
    antibodies-online peptides for NAGS

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    antibodies-online antibodies for NAGS (9 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR001048 Asp/Glu/Uridylate_kinase
     IPR006855 DUF619
     IPR011243 GlcNAc_Synth_met
     IPR000182 GNAT_dom
     IPR016181 Acyl_CoA_acyltransferase

    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


    Find genes that share domains with NAGS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 2.3.1.11

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004042acetyl-CoA:L-glutamate N-acetyltransferase activity TAS--
    GO:0008080N-acetyltransferase activity ----
    GO:0016740transferase activity ----
         
    Find genes that share ontologies with NAGS           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for NAGS:
     Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nags):
     behavior/neurological  growth/size/body  homeostasis/metabolism  integument  mortality/aging 

    Find genes that share phenotypes with NAGS           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Nagstm1(KOMP)Vlcg for NAGS

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NAGS
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    hsa-miR-3140-3p hsa-miR-1285 hsa-miR-133b hsa-miR-3918 hsa-miR-1233 hsa-miR-612 hsa-miR-135b hsa-miR-661
    SwitchGear 3'UTR luciferase reporter plasmidNAGS 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NAGS_HUMAN, Q8N159: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    extracellular1
    lysosome1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with NAGS           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for NAGS About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2Arginine and proline metabolism
    Arginine and proline metabolism
    Urea cycle and metabolism of amino groups0.00
    3Carbon metabolism
    Biosynthesis of amino acids0.38
    2-Oxocarboxylic acid metabolism0.00
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Urea cycle0.00


    Find genes that share SuperPaths with NAGS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for NAGS
        Urea cycle and metabolism of amino groups

    1 Reactome Pathway for NAGS
        Urea cycle


    4 Kegg Pathways  (Kegg details for NAGS):
        Arginine and proline metabolism
    Metabolic pathways
    2-Oxocarboxylic acid metabolism
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: NAGS_HUMAN, Q8N159
    Pathway: Amino-acid biosynthesis; L-arginine biosynthesis; N(2)-acetyl-L-ornithine from L-glutamate: step 1/4

        Pathway & Disease-focused RT2 Profiler PCR Array including NAGS: 

              Amino Acid Metabolism I in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NAGS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for NAGS (Q8N1592, 3 ENSP000002934044) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TMEM39BQ9GZU32, 3, ENSP000003381654MINT-64900 I2D: score=4 STRING: ENSP00000338165
    ASS1P009663, ENSP000002530044I2D: score=1 STRING: ENSP00000253004
    ADSSL1Q8N1423, ENSP000003330194I2D: score=1 STRING: ENSP00000333019
    SNRPD3P623183, ENSP000002158294I2D: score=3 STRING: ENSP00000215829
    RPS16P622493I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000050urea cycle TAS--
    GO:0006526arginine biosynthetic process IEA--
    GO:0006536glutamate metabolic process TAS--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with NAGS           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NAGS

    6 HMDB Compounds for NAGS    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    FamotidineAmfamox (see all 83)76824-35-6--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    N-Acetyl-L-alanine(S)-(-)-N-Acetylalanine (see all 8)97-69-8--
    N-Acetylglutamic acid2-acetamido-L-Glutaraldehydate (see all 23)1188-37-0--

    1 DrugBank Compound for NAGS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17347518

    10 Novoseek inferred chemical compound relationships for NAGS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    n-acetylglutamate 98.6 108 2241918 (4), 11131349 (3), 12459178 (2), 14605506 (2) (see all 32)
    n-carbamylglutamate 97.3 18 19533169 (3), 18414145 (3), 17421020 (2), 15480384 (2) (see all 5)
    carbamoyl phosphate 89.3 11 12459178 (1), 15050968 (1), 19533169 (1), 12594532 (1) (see all 8)
    cpsi 89.1 9 12459178 (2), 15050968 (2), 12633501 (1), 16321554 (1)
    urea 67.2 16 18666241 (2), 12459178 (1), 12754705 (1), 12633501 (1) (see all 10)
    benzoate 65.2 1 19533169 (1)
    acetyl-coa 56.6 4 16321554 (1), 12447942 (1)
    ornithine 55.5 3 12633501 (1), 15164414 (1), 2105747 (1)
    arginine 55.3 20 16122935 (2), 16321554 (2), 17425781 (2), 18319063 (2) (see all 8)
    glutamate 43 7 16321554 (2), 12447942 (1), 17425781 (1)

    3 PharmGKB related drug/compound annotations for NAGS gene    About this table
    Drug/compound PharmGKB Annotation
    carglumic acid
    phenylacetic acid
    sodium benzoate



    Find genes that share compounds with NAGS           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NAGS gene: 
    NM_153006.2  

    Unigene Cluster for NAGS:

    N-acetylglutamate synthase
    Hs.8876  [show with all ESTs]
    Unigene Representative Sequence: NM_153006
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000293404(uc002ies.3 uc010czn.3 uc002iet.3) ENST00000589767
    ENST00000592915
    miRNA
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    Additional mRNA sequence: 

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

    3 DOTS entries:

    DT.100021284  DT.40107565  DT.410925 

    Selected AceView cDNA sequences (see all 34):

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

    GeneLoc Exon Structure

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

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


    ECgene alternative splicing isoforms for NAGS

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NAGS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCCCAGGCA
    NAGS Expression
    About this image


    NAGS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)
             Cumulus Cells Antral Follicle
     
     Liver (Hepatobiliary System)
    NAGS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NAGS Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including NAGS: 
              Amino Acid Metabolism I in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAGS

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for NAGS gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nags1 , 5 N-acetylglutamate synthase1, 5 84.1(n)1
    88.13(a)1
      11 (65.48 cM)5
    2172141  NM_145829.21  NP_665828.11 
     1021455135 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nags1 N-acetylglutamate synthase 63.9(n)
    65.02(a)
      100488724  XM_002935546.2  XP_002935592.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5577161 N-acetylglutamate synthase, mitochondrial-like 58.63(n)
    54.1(a)
      557716  XM_680827.6  XP_685919.3 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ARG5,6(YER069W)4 Protein that is processed in the mitochondrion to yield more   --   5(295410-298001) 856800  NP_010992.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NAGS (see all 89)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0235054
    N-acetylglutamate synthase deficiency (NAGSD)4--see VAR_0235052 C R mis40--------
    VAR_0235094
    N-acetylglutamate synthase deficiency (NAGSD)4--see VAR_0235092 W R mis40--------
    VAR_0235064
    N-acetylglutamate synthase deficiency (NAGSD)4--see VAR_0235062 A P mis40--------
    VAR_0235074
    N-acetylglutamate synthase deficiency (NAGSD)4--see VAR_0235072 S P mis40--------
    VAR_0235104
    N-acetylglutamate synthase deficiency (NAGSD)4--see VAR_0235102 A T mis40--------
    VAR_0235084
    N-acetylglutamate synthase deficiency (NAGSD)4--see VAR_0235082 L P mis40--------
    rs1048946041,2
    Cpathogenic142874575(+) CGAGTA/GGGTGA 2 * W stg10--------
    rs1048946051,2
    Cpathogenic142875602(+) CATTCC/TGACCA 2 P L mis10--------
    rs1048946071,2
    Cpathogenic142875612(+) ATGGAC/GCCCGT 2 D E mis10--------
    rs1048946061,2
    Cpathogenic142875763(+) ATCCCC/TGGTAG 2 R W mis10--------

    HapMap Linkage Disequilibrium report for NAGS (42081914 - 42086436 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NAGS:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833454CNV Loss17160897

    Human Gene Mutation Database (HGMD): NAGS
    Locus Specific Mutation Databases (LSDB): NAGS

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 608300   
    OMIM disorders: 237310  
    UniProtKB/Swiss-Prot: NAGS_HUMAN, Q8N159
  • N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]: 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 4 diseases for NAGS:    
    About MalaCards
    urea cycle disorder    n-acetylglutamate synthase deficiency    carbamoyl phosphate synthetase i deficiency disease    propionic acidemia

    2 diseases from the University of Copenhagen DISEASES database for NAGS:
    Urea cycle disorder     Carbamoyl phosphate synthetase I deficiency disease

    Find genes that share disorders with NAGS           About GenesLikeMe

    2 Novoseek inferred disease relationships for NAGS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nags deficiency 99.3 58 17510757 (5), 19533169 (4), 17421020 (4), 12594532 (3) (see all 19)
    hyperammonemia 90.7 22 19533169 (3), 12594532 (2), 18414145 (2), 11131349 (2) (see all 14)

    Genetic Association Database (GAD): NAGS
    Human Genome Epidemiology (HuGE) Navigator: NAGS (4 documents)

    Export disorders for NAGS 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)
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    PubMed articles for NAGS gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with NAGS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of the human N-acetylglutamate synthase gene. (PubMed id 12459178)1, 2, 3, 9 Caldovic L.... Tuchman M. (Biochem. Biophys. Res. Commun. 2002)
    2. Mutation analysis in patients with N-acetylglutamate synthase deficiency. (PubMed id 12754705)1, 2, 9 Haeberle J.... Koch H.G. (Hum. Mutat. 2003)
    3. Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. (PubMed id 12594532)1, 4, 9 Caldovic L....Tuchman M. (Hum. Genet. 2003)
    4. Mammalian N-acetylglutamate synthase. (PubMed id 15050968)1, 3, 9 Morizono H....Tuchman M. (Mol. Genet. Metab. 2004)
    5. Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. (PubMed id 15878741)1, 2, 9 Schmidt E.... Koch H.G. (Biochim. Biophys. Acta 2005)
    6. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene. (PubMed id 17421020)1, 9 Caldovic L....Tuchman M. (Hum. Mutat. 2007)
    10. Biochemical properties of recombinant human and mouse N-acetylglutamate synthase. (PubMed id 16321554)1, 9 Caldovic L....Tuchman M. (Mol. Genet. Metab. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 162417 HGNC: 17996 AceView: NAGS Ensembl:ENSG00000161653 euGenes: HUgn162417
    ECgene: NAGS Kegg: 162417 H-InvDB: NAGS

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NAGS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NAGS[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/N-acetylglutamate_synthase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NAGS gene:
    Search GeneIP for patents involving NAGS

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



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