UniProt:Q8N159 NAGS

chain
  • transit peptide:1-18
  • chain:19-534
  • chain:51-534
  • chain:92-534
checksum 1328039080EB936C
comment
  • FUNCTION Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPS1) activity.CATALYTIC ACTIVITY L-glutamate + acetyl-CoA = N-acetyl-L-glutamate + CoA + H(+)ACTIVITY REGULATION Increased by L-arginine.PATHWAY Amino-acid biosynthesis; L-arginine biosynthesis; N(2)-acetyl-L-ornithine from L-glutamate: step 1/4.SUBUNIT Homodimer. Homotetramer.SUBCELLULAR LOCATION Highly expressed in the adult liver, kidney and small intestine. Weakly expressed in the fetal liver, lung, pancreas, placenta, heart and brain tissue.DOMAIN The amino-acid kinase (AAK) domain mediates binding of the allosteric activator L-arginine.PTM Probably processed by mitochondrial processing peptidase (MPP). The long form has not yet been isolated (By similarity).DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the acetyltransferase family.ONLINE INFORMATION N-acetylglutamate synthase entry
crossReference
databaseName UniProt
dbId 70527
description
  • recommendedName: N-acetylglutamate synthase, mitochondrial ecNumber evidence="5 8 10"2.3.1.1 alternativeName: Amino-acid acetyltransferase component recommendedName: N-acetylglutamate synthase long form /component component recommendedName: N-acetylglutamate synthase short form /component component recommendedName: N-acetylglutamate synthase conserved domain form /component
displayName UniProt:Q8N159 NAGS
geneName
  • NAGS
identifier Q8N159
isSequenceChanged false
keyword
  • 3D-structure
  • Acyltransferase
  • Disease variant
  • Mitochondrion
  • Proteomics identification
  • Reference proteome
  • Transferase
  • Transit peptide
  • Urea cycle
modified [InstanceEdit:9939033] Weiser, Joel, 2025-02-21
moleculeType Protein
name
  • NAGS
otherIdentifier
  • 11727323_a_at
  • 11727324_at
  • 11751055_a_at
  • 162417
  • 16834689
  • 229432_PM_at
  • 229432_at
  • 3722706
  • 3722707
  • 3722708
  • 3722709
  • 3722710
  • 3722712
  • 3722713
  • 3722714
  • 3722715
  • 3722717
  • 3722718
  • 3722719
  • 3722720
  • 3722722
  • 3722723
  • 3722725
  • 3722727
  • 47145_at
  • 8007550
  • A_14_P104817
  • A_14_P110833
  • A_23_P405794
  • A_23_P406187
  • A_32_P32739
  • GE562752
  • GO:0000050
  • GO:0004042
  • GO:0005739
  • GO:0005759
  • GO:0006520
  • GO:0006526
  • GO:0006536
  • GO:0016740
  • GO:0016746
  • GO:0016747
  • GO:0071941
  • HMNXSV003003071
  • Hs.8876.0.A1_3p_at
  • ILMN_1758597
  • PH_hs_0000936
  • TC17000561.hg
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • NAGS_HUMAN
  • B2RAZ9
  • Q8IWR4
sequenceLength 534
species [Species:48887] Homo sapiens
stId uniprot:Q8N159
url http://purl.uniprot.org/uniprot/Q8N159

Referrals

(referenceEntity)
(referenceSequence)
Cite Us!