| Entry |
|
| Gene name |
ABAT, GABA-AT, GABAT, NPD009
|
| Definition |
4-aminobutyrate aminotransferase (EC:2.6.1.19 2.6.1.22)
|
| Orthology |
| 4-aminobutyrate aminotransferase / (S)-3-amino-2-methylpropionate transaminase [EC: 2.6.1.19 2.6.1.22] |
|
| Organism |
|
| Pathway |
| Alanine, aspartate and glutamate metabolism | | Valine, leucine and isoleucine degradation | | beta-Alanine metabolism | | Propanoate metabolism | | Butanoate metabolism | | Metabolic pathways | | GABAergic synapse |
|
| Module |
| GABA (gamma-Aminobutyrate) shunt |
|
| Disease |
| GABA-transaminase deficiency |
|
| Drug target |
Valproic acid: Vigabatrin: |
| Class |
Metabolism; Carbohydrate metabolism; Propanoate metabolism [PATH: hsa00640]
Metabolism; Carbohydrate metabolism; Butanoate metabolism [PATH: hsa00650]
Metabolism; Amino acid metabolism; Alanine, aspartate and glutamate metabolism [PATH: hsa00250]
Metabolism; Amino acid metabolism; Valine, leucine and isoleucine degradation [PATH: hsa00280]
Metabolism; Metabolism of other amino acids; beta-Alanine metabolism [PATH: hsa00410]
Organismal Systems; Nervous system; GABAergic synapse [PATH: hsa04727]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| Position |
16p13.2
|
| AA seq |
500 aa  
MASMLLAQRLACSFQHSYRLLVPGSRHISQAAAKVDVEFDYDGPLMKTEVPGPRSQELMK
QLNIIQNAEAVHFFCNYEESRGNYLVDVDGNRMLDLYSQISSVPIGYSHPALLKLIQQPQ
NASMFVNRPALGILPPENFVEKLRQSLLSVAPKGMSQLITMACGSCSNENALKTIFMWYR
SKERGQRGFSQEELETCMINQAPGCPDYSILSFMGAFHGRTMGCLATTHSKAIHKIDIPS
FDWPIAPFPRLKYPLEEFVKENQQEEARCLEEVEDLIVKYRKKKKTVAGIIVEPIQSEGG
DNHASDDFFRKLRDIARKHGCAFLVDEVQTGGGCTGKFWAHEHWGLDDPADVMTFSKKMM
TGGFFHKEEFRPNAPYRIFNTWLGDPSKNLLLAEVINIIKREDLLNNAAHAGKALLTGLL
DLQARYPQFISRVRGRGTFCSFDTPDDSIRNKLILIARNKGVVLGGCGDKSIRFRPTLVF
RDHHAHLFLNIFSDILADFK |
| NT seq |
1503 nt  +upstreamnt +downstreamnt
atggcctccatgttgctcgcccagcgcctggcctgcagcttccagcacagctaccgcctg
ctggtgcctggatccagacacattagtcaagctgcagccaaagtcgacgttgaatttgat
tatgatgggcctctgatgaagacggaagtcccagggcctagatctcaggagttaatgaaa
cagctgaatataattcagaatgcagaggctgtgcattttttctgcaattacgaagagagc
cgaggcaattacctggttgatgtggacggcaaccgaatgctggatctttattcccagatc
tcctctgtccccataggttacagccaccccgccctgctgaaactcatccaacagcctcaa
aatgcgagcatgtttgtcaacagacccgccctcggaatcctgcctccggagaactttgtg
gagaagctccggcagtccttgctctcggtggctcccaaagggatgtcccagctcatcacc
atggcctgcggctcctgctccaatgaaaacgccttaaagaccatcttcatgtggtaccgg
agcaaggaaagagggcagaggggcttctcccaggaggagctggagacgtgcatgattaac
caggcccctggctgccccgactacagcatcctctccttcatgggcgcgttccatgggagg
accatgggttgcttagcgaccacgcactctaaagccattcacaagatcgacatcccttcc
tttgactggcccatcgcaccgttcccacggctgaaataccctctggaagagtttgtgaaa
gagaaccaacaggaggaggcccgctgtctggaagaggtggaggatctgattgtgaaatat
cggaaaaagaagaagacggtggccgggatcatcgtggagcccatccagtccgagggtgga
gacaaccacgcatccgatgacttctttcggaagctgagagacatcgccaggaagcatggc
tgcgccttcttggtggacgaggtccagaccggaggaggctgcacgggcaagttctgggcc
catgagcactggggcctggatgacccagcagacgtgatgaccttcagcaagaagatgatg
actgggggcttcttccacaaggaggagttcaggcctaatgctccctaccggatcttcaac
acctggctgggggacccgtccaagaacctgttgctggctgaggtcatcaacatcatcaag
cgggaggacctgctaaataatgcagcccatgccgggaaggccctgctcacaggactgctg
gacctccaggcccggtacccccagttcatcagcagggtgagaggacgaggcaccttttgc
tccttcgatactcccgatgattccatacggaataagctcattttaattgccagaaacaaa
ggtgtggtgttgggtggctgtggtgacaaatccattcgtttccgtcccacgctggtcttc
agggatcaccacgctcacctgttcctcaatattttcagtgacatcttagcagacttcaag
taa |