KEGG   Homo sapiens (human): 18Help
Entry
18                CDS       T01001                                 

Gene name
ABAT, GABA-AT, GABAT, NPD009
Definition
(RefSeq) 4-aminobutyrate aminotransferase
  KO
K13524  4-aminobutyrate aminotransferase / (S)-3-amino-2-methylpropionate transaminase [EC:2.6.1.19 2.6.1.22]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00250  Alanine, aspartate and glutamate metabolism
hsa00280  Valine, leucine and isoleucine degradation
hsa00410  beta-Alanine metabolism
hsa00640  Propanoate metabolism
hsa00650  Butanoate metabolism
hsa01100  Metabolic pathways
hsa04727  GABAergic synapse
Module
hsa_M00027  GABA (gamma-Aminobutyrate) shunt
Disease
H01257  GABA-transaminase deficiency
Drug target
Valproic acid (DG00849): D00304 D00399 D00710 D08667
Vigabatrin: D00535
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09101 Carbohydrate metabolism
   00640 Propanoate metabolism
    18 (ABAT)
   00650 Butanoate metabolism
    18 (ABAT)
  09105 Amino acid metabolism
   00250 Alanine, aspartate and glutamate metabolism
    18 (ABAT)
   00280 Valine, leucine and isoleucine degradation
    18 (ABAT)
  09106 Metabolism of other amino acids
   00410 beta-Alanine metabolism
    18 (ABAT)
 09150 Organismal Systems
  09156 Nervous system
   04727 GABAergic synapse
    18 (ABAT)
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01007 Amino acid related enzymes [BR:hsa01007]
    18 (ABAT)
Enzymes [BR:hsa01000]
 2. Transferases
  2.6  Transferring nitrogenous groups
   2.6.1  Transaminases
    2.6.1.19  4-aminobutyrate---2-oxoglutarate transaminase
     18 (ABAT)
    2.6.1.22  (S)-3-amino-2-methylpropionate transaminase
     18 (ABAT)
Amino acid related enzymes [BR:hsa01007]
 Aminotransferase (transaminase)
  Class III
   18 (ABAT)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Aminotran_3 Lenti_VIF_2 Aminotran_1_2 Tex_N
Motif
Other DBs
NCBI-GeneID: 18
NCBI-ProteinID: NP_000654
OMIM: 137150
HGNC: 23
Ensembl: ENSG00000183044
Vega: OTTHUMG00000048201
Pharos: P80404(Tclin)
UniProt: P80404 X5D8S1
Position
16p13.2
AA seq 500 aa AA seqDB search
MASMLLAQRLACSFQHSYRLLVPGSRHISQAAAKVDVEFDYDGPLMKTEVPGPRSQELMK
QLNIIQNAEAVHFFCNYEESRGNYLVDVDGNRMLDLYSQISSVPIGYSHPALLKLIQQPQ
NASMFVNRPALGILPPENFVEKLRQSLLSVAPKGMSQLITMACGSCSNENALKTIFMWYR
SKERGQRGFSQEELETCMINQAPGCPDYSILSFMGAFHGRTMGCLATTHSKAIHKIDIPS
FDWPIAPFPRLKYPLEEFVKENQQEEARCLEEVEDLIVKYRKKKKTVAGIIVEPIQSEGG
DNHASDDFFRKLRDIARKHGCAFLVDEVQTGGGCTGKFWAHEHWGLDDPADVMTFSKKMM
TGGFFHKEEFRPNAPYRIFNTWLGDPSKNLLLAEVINIIKREDLLNNAAHAGKALLTGLL
DLQARYPQFISRVRGRGTFCSFDTPDDSIRNKLILIARNKGVVLGGCGDKSIRFRPTLVF
RDHHAHLFLNIFSDILADFK
NT seq 1503 nt NT seq  +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

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