InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABAT

Summary

InnateDB Protein

IDBP-237151.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ABAT

Protein Name

4-aminobutyrate aminotransferase

Synonyms

GABA-AT; GABAT; NPD009;

Species

Homo sapiens

Ensembl Protein

ENSP00000379845

InnateDB Gene

IDBG-13842 (ABAT)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Mitochondrion matrix.

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.

Tissue Specificity

Liver > pancreas > brain > kidney > heart > placenta.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003867	4-aminobutyrate transaminase activity
GO:0008483	transaminase activity
GO:0030170	pyridoxal phosphate binding
GO:0032145	succinate-semialdehyde dehydrogenase binding
GO:0042803	protein homodimerization activity
GO:0047298	(S)-3-amino-2-methylpropionate transaminase activity

Biological Process

GO:0001666	response to hypoxia
GO:0007268	synaptic transmission
GO:0007269	neurotransmitter secretion
GO:0007620	copulation
GO:0007626	locomotory behavior
GO:0009448	gamma-aminobutyric acid metabolic process
GO:0009450	gamma-aminobutyric acid catabolic process
GO:0010039	response to iron ion
GO:0035094	response to nicotine
GO:0042135	neurotransmitter catabolic process
GO:0042220	response to cocaine
GO:0042493	response to drug
GO:0045471	response to ethanol
GO:0045776	negative regulation of blood pressure
GO:0048148	behavioral response to cocaine

Cellular Component

GO:0005739	mitochondrion
GO:0005759	mitochondrial matrix
GO:0032144	4-aminobutyrate transaminase complex
GO:0043005	neuron projection
GO:0070062	extracellular vesicular exosome