ABAT
entrez
18
canonical
uniprot
P80404
canonical
ensembl
ENSG00000183044
resolver
ensp
ENSP00000268251
resolver
ensp
ENSP00000379845
resolver
ensp
ENSP00000411916
resolver
ensp
ENSP00000454963
resolver
ensp
ENSP00000579401
resolver
ensp
ENSP00000579402
resolver
ensp
ENSP00000579403
resolver
ensp
ENSP00000579404
resolver
ensp
ENSP00000786647
resolver
enst
ENST00000268251
resolver
enst
ENST00000396600
resolver
enst
ENST00000425191
resolver
enst
ENST00000569156
resolver
enst
ENST00000909342
resolver
enst
ENST00000909343
resolver
genesymbol
ABAT
resolver
genesymbol_syn
GABAT
resolver
hgnc
HGNC:23
resolver
uniprot
A8K386
resolver
uniprot
H3BNQ7
resolver
uniprot
Q16260
resolver
uniprot
Q8N5W2
resolver
uniprot
Q96BG2
resolver
uniprot
Q99800
resolver
uniprot
X5D8S1
resolver
uniprot_entry
GABT_HUMAN
resolver
uniprot_entry
H3BNQ7_HUMAN
resolver
uniprot_entry
X5D8S1_HUMAN
resolver
uniprot_sec
A8K386
resolver
uniprot_sec
Q16260
resolver
uniprot_sec
Q8N5W2
resolver
uniprot_sec
Q96BG2
resolver
uniprot_sec
Q99800
resolver
amino_acid_sequence
MASMLLAQRLACSFQHSYRLLVPGSRHISQAAAKVDVEFDYDGPLMKTEVPGPRSQELMKQLNIIQNAEAVHFFCNYEESRGNYLVDVDGNRMLDLYSQISSVPIGYSHPALLKLIQQPQNASMFVNRPALGILPPENFVEKLRQSLLSVAPKGMSQLITMACGSCSNENALKTIFMWYRSKERGQRGFSQEELETCMINQAPGCPDYSILSFMGAFHGRTMGCLATTHSKAIHKIDIPSFDWPIAPFPRLKYPLEEFVKENQQEEARCLEEVEDLIVKYRKKKKTVAGIIVEPIQSEGGDNHASDDFFRKLRDIARKHGCAFLVDEVQTGGGCTGKFWAHEHWGLDDPADVMTFSKKMMTGGFFHKEEFRPNAPYRIFNTWLGDPSKNLLLAEVINIIKREDLLNNAAHAGKALLTGLLDLQARYPQFISRVRGRGTFCSFDTPDDSIRNKLILIARNKGVVLGGCGDKSIRFRPTLVFRDHHAHLFLNIFSDILADFK
uniprot
proteins
disease_involvement
DISEASE: GABA-transaminase deficiency (GABATD) [MIM:613163]: An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. GABATD inheritance is autosomal recessive. {ECO:0000269|PubMed:10407778}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.6.1.19
uniprot
proteins
ec_number
2.6.1.22
uniprot
proteins
function
FUNCTION: Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively (PubMed:10407778, PubMed:15528998). Can also convert delta-aminovalerate and beta-alanine (By similarity). {ECO:0000250|UniProtKB:P50554, ECO:0000269|PubMed:10407778, ECO:0000269|PubMed:15528998}.
uniprot
proteins
mass_dalton
56439
uniprot
proteins
mutagenesis
MUTAGEN 321; /note="C->M,S,A,G,K: Loss of 4-aminobutyrate aminotransferase activity."; /evidence="ECO:0000269|PubMed:15528998
uniprot
proteins
protein_family
Class-III pyridoxal-phosphate-dependent aminotransferase family
uniprot
proteins
pubmed
10407778
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15528998
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
7721088
uniprot
proteins
pubmed
7851425
uniprot
proteins
sequence_length
500
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion matrix.
uniprot
proteins