| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
FUNCTION: Catalyzes the conversion of gamma-aminobutyrate and L- beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine. CATALYTIC ACTIVITY: 4-aminobutanoate + 2-oxoglutarate = succinate semialdehyde + L-glutamate. CATALYTIC ACTIVITY: (S)-3-amino-2-methylpropanoate + 2- oxoglutarate = 2-methyl-3-oxopropanoate + L-glutamate. COFACTOR: Pyridoxal phosphate. SUBUNIT: Homodimer; disulfide-linked. SUBCELLULAR LOCATION: Mitochondrion matrix. TISSUE SPECIFICITY: Liver > pancreas > brain > kidney > heart > placenta. DISEASE: Defects in ABAT are a cause of GABA transaminase deficiency (GABATD) [MIM:613163]. The phenotype of this deficiency includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. SIMILARITY: Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABAT"; WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABAT+%40+GABAT"; GENE SYNONYMS:ABAT GABAT. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 500 AA; 56439 MW; F990B0B6B77BD3F5 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:23,
urn:biopax:RelationshipXref:NCBI GENE_18,
urn:biopax:RelationshipXref:REFSEQ_NP_000654,
urn:biopax:RelationshipXref:REFSEQ_NP_001120920,
urn:biopax:RelationshipXref:REFSEQ_NP_065737,
urn:biopax:UnificationXref:UNIPROT_A8K386,
urn:biopax:UnificationXref:UNIPROT_P80404,
urn:biopax:UnificationXref:UNIPROT_Q16260,
urn:biopax:UnificationXref:UNIPROT_Q8N5W2,
urn:biopax:UnificationXref:UNIPROT_Q96BG2,
urn:biopax:UnificationXref:UNIPROT_Q99800
|
| biopax3:displayName |
GABT_HUMAN
|
| biopax3:name |
(S)-3-amino-2-methylpropionate transaminase,
2.6.1.19,
2.6.1.22,
ABAT,
GABA aminotransferase,
GABA transaminase,
GABA-AT,
GABA-T,
Gamma-amino-N-butyrate transaminase,
L-AIBAT
|
| biopax3:entityFeature | |
| biopax3:organism | |
| biopax3:sequence |
MASMLLAQRLACSFQHSYRLLVPGSRHISQAAAKVDVEFDYDGPLMKTEVPGPRSQELMKQLNIIQNAEAVHFFCNYEESRGNYLVDVDGNRMLDLYSQISSVPIGYSHPALLKLIQQPQNASMFVNRPALGILPPENFVEKLRQSLLSVAPKGMSQLITMACGSCSNENALKTIFMWYRSKERGQRGFSQEELETCMINQAPGCPDYSILSFMGAFHGRTMGCLATTHSKAIHKIDIPSFDWPIAPFPRLKYPLEEFVKENQQEEARCLEEVEDLIVKYRKKKKTVAGIIVEPIQSEGGDNHASDDFFRKLRDIARKHGCAFLVDEVQTGGGCTGKFWAHEHWGLDDPADVMTFSKKMMTGGFFHKEEFRPNAPYRIFNTWLGDPSKNLLLAEVINIIKREDLLNNAAHAGKALLTGLLDLQARYPQFISRVRGRGTFCSFDTPDDSIRNKLILIARNKGVVLGGCGDKSIRFRPTLVFRDHHAHLFLNIFSDILADFK
|
| biopax3:standardName |
4-aminobutyrate aminotransferase, mitochondrial
|