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Aliases & Descriptions for NAGS
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| 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 |
|
| | Search outside databases for aliases for NAGS genePrevious GC identifers: GC17P041823 GC17P044259 GC17P042092 GC17P042557 |
Summaries for NAGS(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| 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, Q8N159Function: Plays a role in the regulation of ureagenesis by producing variable amounts of N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activity |
Genomic Location for NAGS
(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) About This Section
| 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: 17q21.31NAGS 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
| Proteins for NAGS
(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)
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 Q8IWR4Post-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 Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005739 | mitochondrion |
IEA | -- | | GO:0005759 | mitochondrial matrix |
IEA | -- | About this table
Antibodies for NAGS: Assays for NAGS: | Protein
Domains/ Families for NAGS(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q8N159
ProtoNet protein and cluster: Q8N159 UniProtKB/Swiss-Prot: NAGS_HUMAN, Q8N159Similarity: Belongs to the acetyltransferase familySimilarity: Contains 1 N-acetyltransferase domain | Gene Function for NAGS
(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
|               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 
              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, Q8N159Function: Plays a role in the regulation of ureagenesis by producing variable amounts of N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPSI) activityCatalytic activity: Acetyl-CoA + L-glutamate = CoA + N-acetyl-L-glutamateEnzyme regulation: Increased by L-arginineEnzyme Number (IUBMB): EC 2.3.1.1 4 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed 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 & Interactions for NAGS
(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) 
UniProtKB/Swiss-Prot: NAGS_HUMAN, Q8N159Pathway: 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
)About this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for NAGS(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 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
|
Transcripts for NAGS(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
|               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
|
Expression for NAGS
(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 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, Q8N159Tissue 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 for NAGS
(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
)
About this table Species with no ortholog for NAGS
ENSEMBL Gene Tree for NAGS | Paralogs for NAGS(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for NAGS(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for NAGS (up to first 250kb)
|
Disorders & Mutations for NAGS
(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 illness2 Novoseek disease relationships for NAGS gene
About this table
Human Gene Mutation Database: NAGS Genetic Association Database: NAGS
|
Medical News for NAGS(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for NAGS (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
):- Cloning and expression of the human N-acetylglutamate synthase gene. (PubMed id 12459178)1, 2, 3, 4 Caldovic L....Tuchman M. (2002)
- Mutation analysis in patients with N-acetylglutamate synthase deficiency. (PubMed id 12754705)1, 3, 4 Haeberle J.... Koch H.G. (2003)
- Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. (PubMed id 12594532)1, 3, 6 Caldovic L....Tuchman M. (2003)
- Mammalian N-acetylglutamate synthase. (PubMed id 15050968)1, 2, 3 Morizono H....Tuchman M. (2004)
- Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. (PubMed id 15878741)1, 3, 4 Schmidt E.... Koch H.G. (2005)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3, 4 Ota T....Sugano S. (2004)
- Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene. (PubMed id 17421020)1, 3 Caldovic L....Tuchman M. (2007)
- Biochemical properties of recombinant human and mouse N-acetylglutamate synthase. (PubMed id 16321554)1, 3 Caldovic L....Tuchman M. (2006)
- Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency. (PubMed id 17703373)1, 3 Hwu W.L....Lee N.C. (2007)
- Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. (PubMed id 15714518)1, 3 Caldovic L....Tuchman M. (2005)
|
Search for NAGS
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing NAGS
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing NAGS
(According to HUGE)
About This Section
| -- |
Specialized Databases showing NAGS(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
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=NAGS | | Wikipedia | http://en.wikipedia.org/wiki/N-acetylglutamate_synthase |
|
| | | About This Section
| --
| Services for NAGS(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:

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