| Entry |
|
| Gene name |
NAGS, AGAS, ARGA
|
| Definition |
N-acetylglutamate synthase (EC:2.3.1.1)
|
| Orthology |
| N-acetylglutamate synthase [EC: 2.3.1.1] |
|
| Organism |
|
| Pathway |
| Arginine and proline metabolism | | Metabolic pathways | | 2-Oxocarboxylic acid metabolism | | Biosynthesis of amino acids |
|
| Disease |
| N-acetylglutamate synthase (NAGS) deficiency |
|
| Class |
Metabolism; Amino acid metabolism; Arginine and proline metabolism [PATH: hsa00330]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
17q21.31
|
| 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 |