NAGS
entrez
162417
canonical
uniprot
Q8N159
canonical
ensembl
ENSG00000161653
resolver
ensp
ENSP00000293404
resolver
enst
ENST00000293404
resolver
genesymbol
NAGS
resolver
hgnc
HGNC:17996
resolver
uniprot
B2RAZ9
resolver
uniprot
Q2NKP2
resolver
uniprot
Q8IWR4
resolver
uniprot_entry
NAGS_HUMAN
resolver
uniprot_entry
Q2NKP2_HUMAN
resolver
uniprot_sec
B2RAZ9
resolver
uniprot_sec
Q8IWR4
resolver
activity_regulation
ACTIVITY REGULATION: Increased by L-arginine. {ECO:0000269|PubMed:12459178, ECO:0000269|PubMed:23894642}.
uniprot
proteins
amino_acid_sequence
MATALMAVVLRAAAVAPRLRGRGGTGGARRLSCGARRRAARGTSPGRRLSTAWSQPQPPPEEYAGADDVSQSPVAEEPSWVPSPRPPVPHESPEPPSGRSLVQRDIQAFLNQCGASPGEARHWLTQFQTCHHSADKPFAVIEVDEEVLKCQQGVSSLAFALAFLQRMDMKPLVVLGLPAPTAPSGCLSFWEAKAQLAKSCKVLVDALRHNAAAAVPFFGGGSVLRAAEPAPHASYGGIVSVETDLLQWCLESGSIPILCPIGETAARRSVLLDSLEVTASLAKALRPTKIIFLNNTGGLRDSSHKVLSNVNLPADLDLVCNAEWVSTKERQQMRLIVDVLSRLPHHSSAVITAASTLLTELFSNKGSGTLFKNAERMLRVRSLDKLDQGRLVDLVNASFGKKLRDDYLASLRPRLHSIYVSEGYNAAAILTMEPVLGGTPYLDKFVVSSSRQGQGSGQMLWECLRRDLQTLFWRSRVTNPINPWYFKHSDGSFSNKQWIFFWFGLADIRDSYELVNHAKGLPDSFHKPASDPGS
uniprot
proteins
disease_involvement
DISEASE: N-acetylglutamate synthase deficiency (NAGSD) [MIM:237310]: Rare autosomal recessively inherited metabolic disorder leading to severe neonatal or late-onset hyperammonemia without increased excretion of orotic acid. Clinical symptoms are somnolence, tachypnea, feeding difficulties, a severe neurologic presentation characterized by uncontrollable movements, developmental delay, visual impairment, failure to thrive and hyperammonemia precipitated by the introduction of high-protein diet or febrile illness. {ECO:0000269|PubMed:12754705, ECO:0000269|PubMed:15878741, ECO:0000269|PubMed:27037498}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.1
uniprot
proteins
function
FUNCTION: Plays a role in the regulation of ureagenesis by producing the essential cofactor N-acetylglutamate (NAG), thus modulating carbamoylphosphate synthase I (CPS1) activity. {ECO:0000269|PubMed:12459178, ECO:0000269|PubMed:23894642, ECO:0000269|PubMed:7126172}.
uniprot
proteins
mass_dalton
58156
uniprot
proteins
mutagenesis
MUTAGEN 441; /note="Y->F: 15% reduction in catalytic activity."; /evidence="ECO:0000269|PubMed:23894642"; MUTAGEN 479; /note="N->A: 7-fold reduction in catalytic activity."; /evidence="ECO:0000269|PubMed:23894642"; MUTAGEN 485; /note="Y->F: 10-fold reduction in catalytic activity."; /evidence="ECO:0000269|PubMed:23894642
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid biosynthesis; L-arginine biosynthesis; N(2)-acetyl-L-ornithine from L-glutamate: step 1/4.
uniprot
proteins
post_translational_modification
PTM: Probably processed by mitochondrial processing peptidase (MPP). The long form has not yet been isolated (By similarity). {ECO:0000250}.
uniprot
proteins
protein_family
Acetyltransferase family
uniprot
proteins
pubmed
12459178
uniprot
proteins
pubmed
12754705
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15878741
uniprot
proteins
pubmed
23894642
uniprot
proteins
pubmed
27037498
uniprot
proteins
pubmed
7126172
uniprot
proteins
sequence_length
534
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305|PubMed:7126172}.
uniprot
proteins