ENSG00000161653


Homo sapiens

Features
Gene ID: ENSG00000161653
  
Biological name :NAGS
  
Synonyms : N-acetylglutamate synthase / NAGS / Q8N159
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q21.31
Gene start: 44004546
Gene end: 44009063
  
Corresponding Affymetrix probe sets: 229432_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000293404
Ensembl peptide - ENSP00000465408
NCBI entrez gene - 162417     See in Manteia.
OMIM - 608300
RefSeq - XM_011524439
RefSeq - NM_153006
RefSeq - XM_011524438
RefSeq Peptide - NP_694551
swissprot - Q8N159
swissprot - K7EK11
Ensembl - ENSG00000161653
  
Related genetic diseases (OMIM): 237310 - N-acetylglutamate synthase deficiency, 237310
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nagsENSDARG00000077193Danio rerio
 NagsENSMUSG00000048217Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR006855  Vertebrate-like NAGS Gcn5-related N-acetyltransferase (GNAT) domain
 IPR011243  N-acetylglutamate synthase, animal
 IPR016181  Acyl-CoA N-acyltransferase
 IPR036393  Acetylglutamate kinase-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000050 urea cycle TAS
 biological_processGO:0006526 arginine biosynthetic process IEA
 biological_processGO:0006536 glutamate metabolic process IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 molecular_functionGO:0004042 acetyl-CoA:L-glutamate N-acetyltransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016746 transferase activity, transferring acyl groups IEA
 molecular_functionGO:0034618 arginine binding IBA
 molecular_functionGO:0103045 methione N-acyltransferase activity IEA


Pathways (from Reactome)
Pathway description
Urea cycle


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000718 Aggressive behavior "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators]
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001254 Lethargy 
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 HP:0001259 Coma 
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 HP:0001289 Confusion "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0001987 Hyperammonemia 
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 HP:0002013 Vomiting 
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 HP:0002098 Respiratory distress 
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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 HP:0410068 Increased level of L-glutamic acid in blood "An increase in the level of L-glutamic acid in the blood." [PMID:7623444]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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