ABAT

GENERAL INFORMATION

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Gene name

ABAT

Gene description

4-aminobutyrate aminotransferase

Protein class

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

Predicted localization

Intracellular

Number of transcripts

9
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (kidney, liver)
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Granular cytoplasmic expression in a subset of tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA041528 , HPA041690
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (kidney, liver)

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

18

UniProt

P80404 (UniProt - Evidence at protein level)

neXtProt

NX_P80404

Antibodypedia

ABAT antibodies


PROTEIN BROWSER

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ENST00000268251
 
ENST00000396600
 
ENST00000425191
 
ENST00000561870
 
ENST00000564714
 
ENST00000565016
 
ENST00000567812
 
ENST00000568847
 
ENST00000569156
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABAT-001 ENSP00000268251
ENST00000268251
P80404
Show all »
Show » Show » 500 56.4 No 0
ABAT-003 ENSP00000456330
ENST00000567812
H3BRN4
Show all »
Show » Show » 515 58.1 No 0
ABAT-005 ENSP00000411916
ENST00000425191
P80404
Show all »
Show » Show » 500 56.4 No 0
ABAT-006 ENSP00000454963
ENST00000569156
H3BNQ7
Show all »
Show » Show » 515 57.9 No 0
ABAT-008 ENSP00000456392
ENST00000564714
H3BRT1
Show all »
Show » Show » 95 10.7 No 0
ABAT-009 ENSP00000455184
ENST00000568847
H3BP74
Show all »
Show » 32 3.5 No 0
ABAT-012 ENSP00000454415
ENST00000565016
H3BMJ9
Show all »
Show » Show » 91 10.2 No 0
ABAT-013 ENSP00000456267
ENST00000561870
H3BRJ1
Show all »
Show » Show » 65 7.3 No 0
ABAT-201 ENSP00000379845
ENST00000396600
P80404
Show all »
Show » Show » 500 56.4 No 0