InnateDB Protein
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IDBP-368164.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ABAT
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Protein Name
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4-aminobutyrate aminotransferase
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Synonyms
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GABA-AT; GABAT; NPD009;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000411916
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InnateDB Gene
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IDBG-13842 (ABAT)
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Protein Structure
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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.
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Subcellular Localization |
Mitochondrion matrix.
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Disease Associations |
GABA transaminase deficiency (GABATD) [MIM:613163]: An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. {ECO:0000269PubMed:10407778}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Liver > pancreas > brain > kidney > heart > placenta.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0003867
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4-aminobutyrate transaminase activity
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GO:0008483
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transaminase activity
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GO:0030170
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pyridoxal phosphate binding
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GO:0032145
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succinate-semialdehyde dehydrogenase binding
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GO:0042803
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protein homodimerization activity
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GO:0047298
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(S)-3-amino-2-methylpropionate transaminase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR004631
4-aminobutyrate aminotransferase, eukaryotic
IPR005814
Aminotransferase class-III
IPR015424
Pyridoxal phosphate-dependent transferase
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PFAM |
PF00202
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PRINTS |
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PIRSF |
PIRSF000521
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P80404
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PhosphoSite |
PhosphoSite-P80404
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TrEMBL |
X5D8S1
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UniProt Splice Variant |
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Entrez Gene |
18
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UniGene |
Hs.739069
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RefSeq |
NP_001120920
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HUGO |
HGNC:23
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OMIM |
137150
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CCDS |
CCDS10534
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HPRD |
00661
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IMGT |
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EMBL |
AC007224
AC012173
AK290501
BC015628
BC031413
KJ534758
L32961
S75578
U80226
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GenPept |
AAA74449
AAB38510
AAD14176
AAH15628
AAH31413
AHW56398
BAF83190
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