KEGG   Homo sapiens (human): 162417
Entry
162417            CDS       T01001                                 
Symbol
NAGS, AGAS, ARGA
Name
(RefSeq) N-acetylglutamate synthase
  KO
K11067  N-acetylglutamate synthase [EC:2.3.1.1]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00220  Arginine biosynthesis
hsa01100  Metabolic pathways
hsa01210  2-Oxocarboxylic acid metabolism
hsa01230  Biosynthesis of amino acids
Network
nt06010  Urea cycle
  Element
N00599  Obligate allosteric activation of CPS1 by NAG
N00600  NAGS deficiency in urea cycle
Disease
H01032  N-acetylglutamate synthase deficiency
H01398  Primary hyperammonemia (Urea cycle disorders)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00220 Arginine biosynthesis
    162417 (NAGS)
Enzymes [BR:hsa01000]
 2. Transferases
  2.3  Acyltransferases
   2.3.1  Transferring groups other than aminoacyl groups
    2.3.1.1  amino-acid N-acetyltransferase
     162417 (NAGS)
SSDB
Motif
Pfam: NAT AA_kinase Acetyltransf_1
Other DBs
NCBI-GeneID: 162417
NCBI-ProteinID: NP_694551
OMIM: 608300
HGNC: 17996
Ensembl: ENSG00000161653
UniProt: Q8N159
Structure
LinkDB
Position
17:44004622..44009068
AA seq 534 aa
MATALMAVVLRAAAVAPRLRGRGGTGGARRLSCGARRRAARGTSPGRRLSTAWSQPQPPP
EEYAGADDVSQSPVAEEPSWVPSPRPPVPHESPEPPSGRSLVQRDIQAFLNQCGASPGEA
RHWLTQFQTCHHSADKPFAVIEVDEEVLKCQQGVSSLAFALAFLQRMDMKPLVVLGLPAP
TAPSGCLSFWEAKAQLAKSCKVLVDALRHNAAAAVPFFGGGSVLRAAEPAPHASYGGIVS
VETDLLQWCLESGSIPILCPIGETAARRSVLLDSLEVTASLAKALRPTKIIFLNNTGGLR
DSSHKVLSNVNLPADLDLVCNAEWVSTKERQQMRLIVDVLSRLPHHSSAVITAASTLLTE
LFSNKGSGTLFKNAERMLRVRSLDKLDQGRLVDLVNASFGKKLRDDYLASLRPRLHSIYV
SEGYNAAAILTMEPVLGGTPYLDKFVVSSSRQGQGSGQMLWECLRRDLQTLFWRSRVTNP
INPWYFKHSDGSFSNKQWIFFWFGLADIRDSYELVNHAKGLPDSFHKPASDPGS
NT seq 1605 nt   +upstreamnt  +downstreamnt
atggcgacggcgctgatggctgtggttctgcgggcagctgctgtagccccgaggctgaga
ggccggggaggcactgggggcgcccgaaggctgagctgtggcgcgcggcggcgggcggcg
aggggcaccagcccggggcgccggctcagcaccgcctggtcgcagccccagcccccgccc
gaggagtacgcgggcgcggacgacgtctcccagtcgcccgtcgccgaggagccgtcgtgg
gtgccgagtcccaggcccccggtgccccacgagtccccagagcctccttcgggccgctcg
ctggtgcagcgggacatccaggccttcctgaaccagtgcggggccagccctggggaggcg
cgccactggctcacgcagttccagacctgccatcactccgcggacaagcccttcgccgtc
atcgaggtggacgaggaggtgctcaagtgccagcagggcgtatccagtctggcctttgcc
ctggccttcttgcagcgcatggacatgaagccgctggtggtcctggggctgccggcccct
acggctccctcgggctgtctttccttctgggaggccaaggcgcagctggccaagagctgc
aaggtgctggtagacgcgcttcgacacaacgccgccgctgctgtgccattttttggcggc
gggtctgtgctacgcgctgccgagccggctccccatgccagctacggcggcatcgtctcg
gtggagacagacctgctgcagtggtgcctggagtcgggcagcatccccatcctgtgcccc
atcggggagacggccgcgcgccgctccgtgcttctcgactccctggaggtgaccgcgtcg
ctggccaaggcgctgcggcccaccaaaatcatcttcctcaataacacaggcggcctgcgc
gacagcagtcataaggtcctgagtaacgtgaacctgcccgccgacctggacctggtgtgc
aacgccgagtgggtgagcacaaaagaacggcagcagatgcggctcatcgtggacgtgctc
agccgcctgccccaccactcctcggccgtcatcaccgccgctagcacgctgctcactgag
ctctttagcaacaaggggtccgggaccctgttcaagaacgccgagcgaatgctacgggtg
cgcagcctggacaagctggaccagggccgtctagtggacctggtcaacgccagcttcggc
aagaagctcagggacgactacctggcctcgctgcgcccgcggctgcactccatctacgtc
tccgaggggtacaacgccgccgccattctgaccatggagcccgtcctggggggcaccccg
tacctggacaaatttgtggtgagctccagccgccagggccaaggctccggccagatgctg
tgggagtgcctgcggcgggaccttcagacacttttctggcgctcccgggtcaccaacccc
atcaatccctggtacttcaaacacagtgatggcagcttctccaacaagcagtggatcttc
ttctggtttggcctggctgatatccgggactcctatgagttggtcaaccacgccaaggga
ctgccagactcctttcacaagccagcttctgacccaggcagctga

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