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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NAGS Gene

protein-coding   GIFtS: 60
GCID: GC17P042082

N-acetylglutamate synthase
 Explore 8 diseases affiliated with
NAGS via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NAGS    

Aliases
for NAGS gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
N-Acetylglutamate Synthase1 2     NAT71
AGAS1 2     N-Acetylglutamate Synthase, Mitochondrial2
ARGA1 2     EC 2.3.1.13
Amino-Acid Acetyltransferase2 3     

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


Summaries
for NAGS gene

(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 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, Jul 2008)

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




Genomic Views
for NAGS gene

(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_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences 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 plasmid: NAGS promoter sequence
   Search SABiosciences Chromatin IP Primers for NAGS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for NAGS gene

(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: 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

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

Post-translational modifications:

  • Probably processed by mitochondrial processing peptidase (MPP). The long form has not yet been isolated (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N159

    • NAGS Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_694551.1  
    ENSEMBL proteins: 
     ENSP00000293404   ENSP00000465408  
    Reactome Protein details: Q8N159
    Human Recombinant Protein Products: 
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    Novus Biologicals NAGS Protein
    Novus Biologicals NAGS Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for NAGS

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--


    NAGS for ontologies           About GeneDecksing



    NAGS Antibody Products: 
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    Uscn Antibodies for NAGS
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    Uscn ELISAs and CLIAs for NAGS

    Protein Domains /
    Families
    for NAGS gene

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

    5 InterPro domains/families:
     IPR001048 Asp/Glu/Uridylate_kinase
     IPR000182 GNAT_dom
     IPR016181 Acyl_CoA_acyltransferase
     IPR006855 DUF619
     IPR011243 GlcNAc_Synth_met

    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


    Function
    for NAGS gene

    (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: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NAGS
    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate NAGS (see all 12):
    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 plasmid: NAGS 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NAGS (see all 7)
    OriGene shRNA RFP: NAGS
    OriGene siRNA: NAGS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NAGS

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for NAGS

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

    Cell Line
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    In Situ Assay
    Products:       
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004042acetyl-CoA:L-glutamate N-acetyltransferase activity TAS--


    NAGS for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for NAGS:
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Nagstm1(KOMP)Vlcg for NAGS
         5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Nags):
     behavior/neurological  growth/size  homeostasis/metabolism  integument  mortality/aging 

    NAGS for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NAGS gene

    (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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Arginine and proline metabolism
    		Arginine and proline metabolism1.00
    		Urea cycle and metabolism of amino groups0.36
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    4glutamate degradation X
    		Urea cycle0.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    3        Reactome Pathways for NAGS
        Metabolism
    Metabolism of amino acids and derivatives
    Urea cycle


    2         Kegg Pathways  (Kegg details for NAGS):
        Arginine and proline metabolism
    Metabolic pathways

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


    NAGS for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NAGS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    5/43 Interacting proteins for NAGS (Q8N1592, 3 ENSP000002934044) via UniProtKB, MINT, STRING, and/or I2D (see all 43)

    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
    SNRPD3P623183I2D: score=3 
    RPS16P622493I2D: score=2 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000050urea cycle TAS--
    GO:0006526arginine biosynthetic process IEA--
    GO:0006536glutamate metabolic process TAS--
    GO:0008652cellular amino acid biosynthetic process ----
    GO:0034641cellular nitrogen compound metabolic process TAS--


    NAGS for ontologies           About GeneDecksing



    Drugs & Compounds
    for NAGS gene

    (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

    NAGS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    2 PharmGKB related drug/compound annotations for NAGS gene
    Drug/compound PharmGKB Annotation
    phenylacetic acidDL  
    sodium benzoateDL  
    About this table

    Search CenterWatch for drugs/clinical trials and news about NAGS 

    Transcripts
    for NAGS gene

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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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    8/12 QIAGEN miScript miRNA Assays for microRNAs that regulate NAGS (see all 12):
    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 plasmid: NAGS 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NAGS (see all 7)
    OriGene shRNA RFP: NAGS
    OriGene siRNA: NAGS
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    Clone
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    Primer
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    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 AK091938 BX106329 CK724890 AI076316 AX747266 
    AK074407 AA703140 W86007 AY158070 AI193178 AI241153 BI909116 AA385859 
    AA700249 AI470965 BE222718 AV696264 N46975 T48765 BF195825 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

    Expression
    for NAGS gene

    (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

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

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NAGS 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 CellCategory (developmental path)
    OvaryAntral FollicleCumulus CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    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

        SABiosciences Expression via Pathway-Focused PCR Array including NAGS: 
              Amino Acid Metabolism I in human mouse rat

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    In Situ
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    Orthologs
    for NAGS gene

    (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 animals and fungi.

    Orthologs for NAGS gene from 3/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Nags1 , 5 N-acetylglutamate synthase1, 5 83.24(n)1
    86.72(a)1    		   11 (65.48 cM)5
    2172141  NM_145829.11  NP_665828.11 
     1021455135 
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC5577161 n-acetylglutamate synthase, mitochondrial-like 57.29(n)
    51.37(a)    		   557716  XM_680827.5  XP_685919.2 
    A. gossypii yeast
    (Ashbya gossypii)    		 Saccharomycetes AGOS_ADL062W1 ADL062Wp 40.37(n)
    27.39(a)    		   4620176  NM_209387.1  NP_984034.1 


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

    Paralogs
    for NAGS gene

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

    Genomic Variants
    for NAGS gene

    (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

    10/63 NCBI SNPs in NAGS are shown (see all 63)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1048946041,2
    		Cpathogenic42083952(+) CGAGTA/GGGTGA 2 * W stg10--------
    rs1048946071,2
    		Cpathogenic42084989(+) ATGGAC/GCCCGT 2 D E mis10--------
    rs1048946061,2
    		Cpathogenic42085140(+) ATCCCC/TGGTAG 2 R W mis10--------
    rs2287701,2
    		C,F,A,H,--42083840(-) CCCCTG/ACCCCC 1 -- int123Minor allele frequency- A:0.08NS EA NA WA CSA 2006
    rs1832758081,2
    		C,--42083858(+) CGTGCC/TGGCTG 1 -- int10--------
    rs1861278281,2
    		C,--42083921(+) TGCCCA/GCCGAC 2 T A mis10--------
    rs2013106021,2
    		--42083981(+) AGATGA/CGGCTC 2 R syn10--------
    rs557084471,2
    		C,F,--42084067(+) CTCTTT/CAGCAA 2 /F syn16Minor allele frequency- C:0.15NA CSA WA EU 4083
    rs2287711,2
    		C,--42084097(-) TCCCCG/CGCCCG 1 -- int13Minor allele frequency- C:0.49MN NA 306
    rs1911202831,2
    		--42084313(+) TAGGGA/GGGAGA 1 -- int10--------

    HapMap Linkage Disequilibrium report for NAGS (42081914 - 42086436 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NAGS: --
    Human Gene Mutation Database (HGMD): NAGS

    Locus Specific Mutation Databases (LSDB): NAGS

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NAGS
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    Disorders / Diseases
    for NAGS gene

    (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
    NAGS for disorders           About GeneDecksing

    OMIM gene information: 608300   
    OMIM 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

    8 diseases for NAGS:    About MalaCards
    n-acetylglutamate synthase deficiency    urea cycle disorder    granulomatous angiitis    propionic acidemia
    hyperargininemia    metabolic disorders    celiac disease    hepatitis

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

    2 Novoseek 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

    Publications
    for NAGS gene

    (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 NAGS gene, integrated from 9 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. (2002)
    2. Mutation analysis in patients with N-acetylglutamate synthase deficiency. (PubMed id 12754705)1, 2, 9 Haeberle J.... Koch H.G. (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. (2003)
    4. Mammalian N-acetylglutamate synthase. (PubMed id 15050968)1, 3, 9 Morizono H....Tuchman M. (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. (2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene. (PubMed id 17421020)1, 9 Caldovic L....Tuchman M. (2007)
    8. Biochemical properties of recombinant human and mouse N-acetylglutamate synthase. (PubMed id 16321554)1, 9 Caldovic L....Tuchman M. (2006)
    9. Favourable long-term outcome after immediate treatmen t of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. (PubMed id 19533169)1, 9 Gessler P....Wermuth B. (2010)
    10. Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency. (PubMed id 17703373)1, 9 Hwu W.L....Lee N.C. (2007)

    External Searches for NAGS gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
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    Genome Databases showing NAGS gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 162417 HGNC: 17996 AceView: NAGS Ensembl:ENSG00000161653 euGenes: HUgn162417
    ECgene: NAGS Kegg: 162417 H-InvDB: NAGS

    Other Databases showing NAGS gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NAGS gene

    (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
    NameDescription
    PharmGKB entry for NAGS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NAGS
    Wikipedia http://en.wikipedia.org/wiki/N-acetylglutamate_synthase

    Intellectual Property
    for NAGS gene

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

    GeneCards and IP:
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