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    NAGS N-acetylglutamate synthase [ Homo sapiens (human) ]

    Gene ID: 162417, updated on 8-Jul-2021

    Summary

    Official Symbol
    NAGSprovided by HGNC
    Official Full Name
    N-acetylglutamate synthaseprovided by HGNC
    Primary source
    HGNC:HGNC:17996
    See related
    Ensembl:ENSG00000161653 MIM:608300
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AGAS; ARGA
    Summary
    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]
    Expression
    Biased expression in duodenum (RPKM 7.8), small intestine (RPKM 6.4) and 8 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See NAGS in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (44004546..44009068)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42081990..42086436)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene pancreatic polypeptide Neighboring gene peptide YY Neighboring gene transmembrane protein 101 Neighboring gene LSM12 homolog

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC133025

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in arginine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in arginine biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glutamate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in glutamate metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in urea cycle TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    N-acetylglutamate synthase, mitochondrial
    Names
    amino-acid acetyltransferase
    NP_694551.1
    XP_011522740.1
    XP_011522741.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008106.1 RefSeqGene

      Range
      4959..9405
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_153006.3NP_694551.1  N-acetylglutamate synthase, mitochondrial

      See identical proteins and their annotated locations for NP_694551.1

      Status: REVIEWED

      Source sequence(s)
      AC023855, AI241153, AY116538, BF589712
      Consensus CDS
      CCDS11473.1
      UniProtKB/Swiss-Prot
      Q8N159
      Related
      ENSP00000293404.2, ENST00000293404.8
      Conserved Domains (4) summary
      PRK04531
      Location:115525
      PRK04531; acetylglutamate kinase; Provisional
      cd04236
      Location:102371
      AAK_NAGS-Urea; AAK_NAGS-Urea: N-acetylglutamate (NAG) kinase-like domain of the NAG Synthase (NAGS) of the urea cycle found in animals. Ureogenic NAGS is a mitochondrial enzyme catalyzing the formation of NAG from acetylcoenzyme A and L-glutamate; NAG is an essential ...
      pfam04768
      Location:357520
      NAT; NAT, N-acetyltransferase, of N-acetylglutamate synthase
      pfam16642
      Location:3293
      KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      44004546..44009068
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524438.1XP_011522740.1  N-acetylglutamate synthase, mitochondrial isoform X1

      Conserved Domains (4) summary
      PRK04531
      Location:115464
      PRK04531; acetylglutamate kinase; Provisional
      cd04236
      Location:102371
      AAK_NAGS-Urea; AAK_NAGS-Urea: N-acetylglutamate (NAG) kinase-like domain of the NAG Synthase (NAGS) of the urea cycle found in animals. Ureogenic NAGS is a mitochondrial enzyme catalyzing the formation of NAG from acetylcoenzyme A and L-glutamate; NAG is an essential ...
      pfam16642
      Location:3293
      KCNQ2_u3; Unstructured region on Potassium channel subunit alpha KvLQT2
      cl14605
      Location:357459
      DUF619-like; DUF619 domain of various N-acetylglutamate Kinases and N-acetylglutamate Synthases
    2. XM_011524439.2XP_011522741.1  N-acetylglutamate synthase, mitochondrial isoform X2

      See identical proteins and their annotated locations for XP_011522741.1

      UniProtKB/TrEMBL
      Q2NKP2
      Conserved Domains (2) summary
      cl00452
      Location:1205
      AAK; Amino Acid Kinases (AAK) superfamily, catalytic domain; present in such enzymes like N-acetylglutamate kinase (NAGK), carbamate kinase (CK), aspartokinase (AK), glutamate-5-kinase (G5K) and UMP kinase (UMPK). The AAK superfamily includes kinases that ...
      cl28353
      Location:84359
      PRK05279; N-acetylglutamate synthase; Validated
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