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

Gene ID: 162417, updated on 5-Sep-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
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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)

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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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