InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ABAT

Summary

InnateDB Gene

IDBG-13842.6

Last Modified

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

Gene Symbol

ABAT

Gene Name

4-aminobutyrate aminotransferase

Synonyms

GABA-AT; GABAT; NPD009

Species

Homo sapiens

Ensembl Gene

ENSG00000183044

Encoded Proteins

IDBP-13844

4-aminobutyrate aminotransferase

IDBP-237151

4-aminobutyrate aminotransferase

IDBP-368164

4-aminobutyrate aminotransferase

IDBP-754433

IDBP-751475

IDBP-746273

IDBP-752677

IDBP-751178

IDBP-752408

IDBP-751449

IDBP-752699

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95%% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 16:8674565-8784575

Strand

Forward strand

Band

p13.2

Transcripts

ENST00000268251	ENSP00000268251
ENST00000396600	ENSP00000379845
ENST00000425191	ENSP00000411916
ENST00000565671
ENST00000564453
ENST00000569156	ENSP00000454963
ENST00000564714	ENSP00000456392
ENST00000565016	ENSP00000454415
ENST00000569695
ENST00000568847	ENSP00000455184
ENST00000563215
ENST00000566590	ENSP00000455198
ENST00000561870	ENSP00000456267
ENST00000562115	ENSP00000455502
ENST00000563992
ENST00000567812	ENSP00000456330

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

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000057880

View Gene Order

ENSBTAG00000004038

Not yet available

Pathways

NETPATH

REACTOME

REACT_23964

Degradation of GABA pathway

REACT_23947

GABA synthesis, release, reuptake and degradation pathway

REACT_13685

Neuronal System pathway

REACT_13477

Transmission across Chemical Synapses pathway

REACT_13723

Neurotransmitter Release Cycle pathway

KEGG

hsa00280

Valine, leucine and isoleucine degradation pathway

hsa00650

Butanoate metabolism pathway

hsa00640

Propanoate metabolism pathway

hsa00410

beta-Alanine metabolism pathway

hsa00250

Alanine, aspartate and glutamate metabolism pathway

INOH

INOH website

Glutamate Glutamine metabolism pathway

INOH website

Arginine Proline metabolism pathway

INOH website

Pyrimidine nucleotides nucleosides metabolism pathway

INOH website

Alanine Aspartate Asparagine metabolism pathway

PID NCI

Cross-References

SwissProt

TrEMBL

H3BP84

UniProt Splice Variant

Entrez Gene

UniGene

Hs.336768 Hs.593095 Hs.739069

RefSeq

NM_000663 NM_001127448 NM_020686 XM_005255154

HUGO

HGNC:23

OMIM

137150

CCDS

CCDS10534

HPRD

00661

IMGT

EMBL

AC007224 AC012173

GenPept

RNA Seq Atlas