Seroatlas · Human Serome Atlas

NAGS

N-acetylglutamate synthase, mitochondrial

Also known as: AGAS, ARGA, NAGS_HUMAN, NAT7

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q8N159
Gene
NAGS
Ensembl
ENSG00000161653
Chromosome
17
Canonical length
534 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Mitochondria
Secretome location
Intracellular and membrane
Quaternary structure
Homotetramer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

534 residues, UniProt reviewed canonical sequence.

>Q8N159|NAGS
     1  MATALMAVVL RAAAVAPRLR GRGGTGGARR LSCGARRRAA RGTSPGRRLS TAWSQPQPPP
    61  EEYAGADDVS QSPVAEEPSW VPSPRPPVPH ESPEPPSGRS LVQRDIQAFL NQCGASPGEA
   121  RHWLTQFQTC HHSADKPFAV IEVDEEVLKC QQGVSSLAFA LAFLQRMDMK PLVVLGLPAP
   181  TAPSGCLSFW EAKAQLAKSC KVLVDALRHN AAAAVPFFGG GSVLRAAEPA PHASYGGIVS
   241  VETDLLQWCL ESGSIPILCP IGETAARRSV LLDSLEVTAS LAKALRPTKI IFLNNTGGLR
   301  DSSHKVLSNV NLPADLDLVC NAEWVSTKER QQMRLIVDVL SRLPHHSSAV ITAASTLLTE
   361  LFSNKGSGTL FKNAERMLRV RSLDKLDQGR LVDLVNASFG KKLRDDYLAS LRPRLHSIYV
   421  SEGYNAAAIL TMEPVLGGTP YLDKFVVSSS RQGQGSGQML WECLRRDLQT LFWRSRVTNP
   481  INPWYFKHSD GSFSNKQWIF FWFGLADIRD SYELVNHAKG LPDSFHKPAS DPGS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NAGS can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.34
Highest tissue expression
49 nTPM

Expression across tissuesHPA

Tissue

  • liver: 49 nTPM
  • duodenum: 15 nTPM
  • small intestine: 13 nTPM
  • kidney: 6.7 nTPM
  • thyroid gland: 4.4 nTPM
  • parathyroid gland: 3.1 nTPM

Single-cell type

  • enterocytes: 43 nCPM
  • hepatocytes: 24 nCPM
  • late primary spermatocytes: 23 nCPM
  • epididymal efferent duct absorptive cells: 16 nCPM
  • esophageal apical cells: 16 nCPM
  • epididymal principal cells: 14 nCPM

Immune cell

  • gdT-cell: 0.9 nTPM
  • basophil: 0.8 nTPM
  • memory CD8 T-cell: 0.8 nTPM
  • non-classical monocyte: 0.8 nTPM
  • eosinophil: 0.7 nTPM
  • MAIT T-cell: 0.7 nTPM

Brain region

  • hypothalamus: 8.9 nTPM
  • pons: 5.8 nTPM
  • medulla oblongata: 5.5 nTPM
  • amygdala: 5.3 nTPM
  • cerebral cortex: 5 nTPM
  • thalamus: 4.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NAGS.

Disease | AllUniProt

Conditions NAGS is implicated in, by any mechanism.

  • N-acetylglutamate synthase deficiency (NAGSD) MIM:237310

Disease | GeneticClinVar

114 pathogenic / likely-pathogenic of 704 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.14
gnomAD pLI
0
gnomAD missense Z
1.34
DepMap mean gene effect
-0.09
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

  • L-glutamate N-acetyltransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads NAGS as an antibody target. Whether an autoantibody or antibody against NAGS could matter depends on whether native NAGS is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

NAGS is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label NAGS as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/NAGS. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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