Homo sapiens (human): 162417
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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)
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Ortholog
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Gene cluster
GFIT
Motif
Pfam:
NAT
AA_kinase
Acetyltransf_1
Motif
Other DBs
NCBI-GeneID:
162417
NCBI-ProteinID:
NP_694551
OMIM:
608300
HGNC:
17996
Ensembl:
ENSG00000161653
UniProt:
Q8N159
Structure
PDB
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All DBs
Position
17:44004622..44009068
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AA seq
534 aa
AA seq
DB search
MATALMAVVLRAAAVAPRLRGRGGTGGARRLSCGARRRAARGTSPGRRLSTAWSQPQPPP
EEYAGADDVSQSPVAEEPSWVPSPRPPVPHESPEPPSGRSLVQRDIQAFLNQCGASPGEA
RHWLTQFQTCHHSADKPFAVIEVDEEVLKCQQGVSSLAFALAFLQRMDMKPLVVLGLPAP
TAPSGCLSFWEAKAQLAKSCKVLVDALRHNAAAAVPFFGGGSVLRAAEPAPHASYGGIVS
VETDLLQWCLESGSIPILCPIGETAARRSVLLDSLEVTASLAKALRPTKIIFLNNTGGLR
DSSHKVLSNVNLPADLDLVCNAEWVSTKERQQMRLIVDVLSRLPHHSSAVITAASTLLTE
LFSNKGSGTLFKNAERMLRVRSLDKLDQGRLVDLVNASFGKKLRDDYLASLRPRLHSIYV
SEGYNAAAILTMEPVLGGTPYLDKFVVSSSRQGQGSGQMLWECLRRDLQTLFWRSRVTNP
INPWYFKHSDGSFSNKQWIFFWFGLADIRDSYELVNHAKGLPDSFHKPASDPGS
NT seq
1605 nt
NT seq
+upstream
nt +downstream
nt
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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