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ABAT

GENERAL INFORMATION

Gene name

 ABAT

Gene description

 4-aminobutyrate aminotransferase

Protein class

 Disease related genes
Enzymes
FDA approved drug targets
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 9
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Cell line enhanced (Hep G2, MCF7, RH-30, T-47d)
HPA (normal tissue):Tissue enhanced (cerebral cortex, kidney, liver)

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Granular cytoplasmic expression in a subset of tissues.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA041528 , HPA041690
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (favourable), liver cancer (favourable) and lung cancer (favourable).
Renal cancer p<0.001
Liver cancer p<0.001
Lung cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA041528
HPA041690

GENE INFORMATION

Gene name

 ABAT (HGNC Symbol)

Synonyms

 GABAT

Description

 4-aminobutyrate aminotransferase (HGNC Symbol)

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]

Chromosome

 16

Cytoband

 p13.2

Chromosome location (bp)

 8674565 - 8784575

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000183044 (version 83.38)

Entrez gene

 18

UniProt

 P80404 (UniProt - Evidence at protein level)

neXtProt

 NX_P80404

Antibodypedia

 ABAT antibodies

PROTEIN BROWSER
ABAT-001
ABAT-003
ABAT-005
ABAT-006
ABAT-008
ABAT-009
ABAT-012
ABAT-013
ABAT-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ABAT-001
ENSP00000268251
ENST00000268251
P80404 [Direct mapping]
4-aminobutyrate aminotransferase, mitochondrial
X5D8S1 [Target identity:100%; Query identity:100%]
4-aminobutyrate aminotransferase isoform A
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Enzymes
   ENZYME proteins
   Transferases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003867 [4-aminobutyrate transaminase activity]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0007268 [synaptic transmission]
GO:0007269 [neurotransmitter secretion]
GO:0008483 [transaminase activity]
GO:0009448 [gamma-aminobutyric acid metabolic process]
GO:0009450 [gamma-aminobutyric acid catabolic process]
GO:0030170 [pyridoxal phosphate binding]
GO:0032144 [4-aminobutyrate transaminase complex]
GO:0032145 [succinate-semialdehyde dehydrogenase binding]
GO:0042135 [neurotransmitter catabolic process]
GO:0042803 [protein homodimerization activity]
GO:0046872 [metal ion binding]
GO:0047298 [(S)-3-amino-2-methylpropionate transaminase activity]
GO:0048148 [behavioral response to cocaine]
GO:0051536 [iron-sulfur cluster binding]
GO:0070062 [extracellular exosome]
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 500 aa
56.4 kDa 		No 0
ABAT-003
ENSP00000456330
ENST00000567812
H3BRN4 [Direct mapping]
4-aminobutyrate aminotransferase, mitochondrial
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   SPOCTOPUS predicted membrane proteins
   SignalP predicted secreted proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0003867 [4-aminobutyrate transaminase activity]
GO:0008483 [transaminase activity]
GO:0009058 [biosynthetic process]
GO:0009448 [gamma-aminobutyric acid metabolic process]
GO:0030170 [pyridoxal phosphate binding]
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 515 aa
58.1 kDa 		No 0
ABAT-005
ENSP00000411916
ENST00000425191
P80404 [Direct mapping]
4-aminobutyrate aminotransferase, mitochondrial
X5D8S1 [Target identity:100%; Query identity:100%]
4-aminobutyrate aminotransferase isoform A
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Enzymes
   ENZYME proteins
   Transferases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003867 [4-aminobutyrate transaminase activity]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0007268 [synaptic transmission]
GO:0007269 [neurotransmitter secretion]
GO:0008483 [transaminase activity]
GO:0009448 [gamma-aminobutyric acid metabolic process]
GO:0009450 [gamma-aminobutyric acid catabolic process]
GO:0030170 [pyridoxal phosphate binding]
GO:0032144 [4-aminobutyrate transaminase complex]
GO:0032145 [succinate-semialdehyde dehydrogenase binding]
GO:0042135 [neurotransmitter catabolic process]
GO:0042803 [protein homodimerization activity]
GO:0046872 [metal ion binding]
GO:0047298 [(S)-3-amino-2-methylpropionate transaminase activity]
GO:0048148 [behavioral response to cocaine]
GO:0051536 [iron-sulfur cluster binding]
GO:0070062 [extracellular exosome]
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 500 aa
56.4 kDa 		No 0
ABAT-006
ENSP00000454963
ENST00000569156
H3BNQ7 [Direct mapping]
4-aminobutyrate aminotransferase, mitochondrial
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   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003867 [4-aminobutyrate transaminase activity]
GO:0008483 [transaminase activity]
GO:0009058 [biosynthetic process]
GO:0009448 [gamma-aminobutyric acid metabolic process]
GO:0030170 [pyridoxal phosphate binding]
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 515 aa
57.9 kDa 		No 0
ABAT-008
ENSP00000456392
ENST00000564714
H3BRT1 [Direct mapping]
4-aminobutyrate aminotransferase, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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GO:0008483 [transaminase activity]
GO:0009058 [biosynthetic process]
GO:0030170 [pyridoxal phosphate binding]
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 95 aa
10.7 kDa 		No 0
ABAT-009
ENSP00000455184
ENST00000568847
H3BP74 [Direct mapping]
4-aminobutyrate aminotransferase, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
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 32 aa
3.5 kDa 		No 0
ABAT-012
ENSP00000454415
ENST00000565016
H3BMJ9 [Direct mapping]
4-aminobutyrate aminotransferase, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008483 [transaminase activity]
GO:0009058 [biosynthetic process]
GO:0030170 [pyridoxal phosphate binding]
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 91 aa
10.2 kDa 		No 0
ABAT-013
ENSP00000456267
ENST00000561870
H3BRJ1 [Direct mapping]
4-aminobutyrate aminotransferase, mitochondrial
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0008483 [transaminase activity]
GO:0009058 [biosynthetic process]
GO:0030170 [pyridoxal phosphate binding]
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 65 aa
7.3 kDa 		No 0
ABAT-201
ENSP00000379845
ENST00000396600
P80404 [Direct mapping]
4-aminobutyrate aminotransferase, mitochondrial
X5D8S1 [Target identity:100%; Query identity:100%]
4-aminobutyrate aminotransferase isoform A
Show all
Enzymes
   ENZYME proteins
   Transferases
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001666 [response to hypoxia]
GO:0003867 [4-aminobutyrate transaminase activity]
GO:0005739 [mitochondrion]
GO:0005759 [mitochondrial matrix]
GO:0007268 [synaptic transmission]
GO:0007269 [neurotransmitter secretion]
GO:0007568 [aging]
GO:0007620 [copulation]
GO:0007626 [locomotory behavior]
GO:0008483 [transaminase activity]
GO:0009448 [gamma-aminobutyric acid metabolic process]
GO:0009449 [gamma-aminobutyric acid biosynthetic process]
GO:0009450 [gamma-aminobutyric acid catabolic process]
GO:0010039 [response to iron ion]
GO:0014053 [negative regulation of gamma-aminobutyric acid secretion]
GO:0021549 [cerebellum development]
GO:0030170 [pyridoxal phosphate binding]
GO:0031652 [positive regulation of heat generation]
GO:0032024 [positive regulation of insulin secretion]
GO:0032144 [4-aminobutyrate transaminase complex]
GO:0032145 [succinate-semialdehyde dehydrogenase binding]
GO:0033602 [negative regulation of dopamine secretion]
GO:0035094 [response to nicotine]
GO:0035640 [exploration behavior]
GO:0042135 [neurotransmitter catabolic process]
GO:0042220 [response to cocaine]
GO:0042493 [response to drug]
GO:0042803 [protein homodimerization activity]
GO:0043005 [neuron projection]
GO:0045471 [response to ethanol]
GO:0045776 [negative regulation of blood pressure]
GO:0045964 [positive regulation of dopamine metabolic process]
GO:0046872 [metal ion binding]
GO:0047298 [(S)-3-amino-2-methylpropionate transaminase activity]
GO:0048148 [behavioral response to cocaine]
GO:0051536 [iron-sulfur cluster binding]
GO:0070062 [extracellular exosome]
GO:0070474 [positive regulation of uterine smooth muscle contraction]
GO:0090331 [negative regulation of platelet aggregation]
GO:0097151 [positive regulation of inhibitory postsynaptic potential]
GO:1902722 [positive regulation of prolactin secretion]
GO:1904450 [positive regulation of aspartate secretion]
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 500 aa
56.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.