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Aliases for ABAT Gene

Aliases for ABAT Gene

  • 4-Aminobutyrate Aminotransferase 2 3 5
  • (S)-3-Amino-2-Methylpropionate Transaminase 3 4
  • Gamma-Amino-N-Butyrate Transaminase 3 4
  • 4-Aminobutyrate Transaminase 2 3
  • GABA Aminotransferase 3 4
  • GABA Transaminase 3 4
  • GABA-AT 3 4
  • GABAT 3 4
  • GABA Transferase 3
  • EC 2.6.1.19 4
  • EC 2.6.1.22 4
  • L-AIBAT 4
  • NPD009 3
  • GABA-T 4

External Ids for ABAT Gene

Previous GeneCards Identifiers for ABAT Gene

  • GC16P008572
  • GC16P008868
  • GC16P008735
  • GC16P008675
  • GC16P008768

Summaries for ABAT Gene

Entrez Gene Summary for ABAT Gene

  • 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]

GeneCards Summary for ABAT Gene

ABAT (4-Aminobutyrate Aminotransferase) is a Protein Coding gene. Diseases associated with ABAT include gaba-transaminase deficiency and gaba aminotransferase deficiency. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. GO annotations related to this gene include protein homodimerization activity and iron-sulfur cluster binding.

UniProtKB/Swiss-Prot for ABAT Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABAT Gene

Genomics for ABAT Gene

Regulatory Elements for ABAT Gene

Promoters for ABAT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ABAT on UCSC Golden Path with GeneCards custom track

Genomic Location for ABAT Gene

Chromosome:
16
Start:
8,674,565 bp from pter
End:
8,784,575 bp from pter
Size:
110,011 bases
Orientation:
Plus strand

Genomic View for ABAT Gene

Genes around ABAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABAT Gene

Proteins for ABAT Gene

  • Protein details for ABAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P80404-GABT_HUMAN
    Recommended name:
    4-aminobutyrate aminotransferase, mitochondrial
    Protein Accession:
    P80404
    Secondary Accessions:
    • A8K386
    • Q16260
    • Q8N5W2
    • Q96BG2
    • Q99800

    Protein attributes for ABAT Gene

    Size:
    500 amino acids
    Molecular mass:
    56439 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326; Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601;
    Quaternary structure:
    • Homodimer; disulfide-linked.

neXtProt entry for ABAT Gene

Proteomics data for ABAT Gene at MOPED

Post-translational modifications for ABAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ABAT Gene

Domains & Families for ABAT Gene

Suggested Antigen Peptide Sequences for ABAT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P80404

UniProtKB/Swiss-Prot:

GABT_HUMAN :
  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with ABAT: view

No data available for Gene Families for ABAT Gene

Function for ABAT Gene

Molecular function for ABAT Gene

UniProtKB/Swiss-Prot CatalyticActivity:
4-aminobutanoate + 2-oxoglutarate = succinate semialdehyde + L-glutamate.
UniProtKB/Swiss-Prot CatalyticActivity:
(S)-3-amino-2-methylpropanoate + 2-oxoglutarate = 2-methyl-3-oxopropanoate + L-glutamate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ABAT Gene

Gene Ontology (GO) - Molecular Function for ABAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032145 succinate-semialdehyde dehydrogenase binding ISS --
GO:0051536 iron-sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with ABAT: view
genes like me logo Genes that share phenotypes with ABAT: view

Human Phenotype Ontology for ABAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ABAT Gene

Localization for ABAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABAT Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ABAT Gene COMPARTMENTS Subcellular localization image for ABAT gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for ABAT Gene

Pathways & Interactions for ABAT Gene

genes like me logo Genes that share pathways with ABAT: view

Gene Ontology (GO) - Biological Process for ABAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion TAS --
GO:0007568 aging IEA --
GO:0007626 locomotory behavior IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ABAT: view

No data available for SIGNOR curated interactions for ABAT Gene

Drugs & Compounds for ABAT Gene

(43) Drugs for ABAT Gene - From: DrugBank, HMDB, Novoseek, DGIdb, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vigabatrin Approved Pharma Inhibition, Inhibitor, inhibitor, Target GABA-T inhibitor 19
Phenelzine Approved Pharma Target, inhibitor 6
L-Alanine Approved Nutra Full agonist, Agonist, Target, inhibitor Glycine receptor agonist 0
Pyruvic acid Approved Nutra Target, inhibitor 0
Valproic Acid Approved, Investigational Pharma inhibitor, Target HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 311

(27) Additional Compounds for ABAT Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-b-aminoisobutyric acid
  • (+)-a-Methyl-b-alanine
  • (+)-alpha-Methyl-beta-alanine
  • (+)-b-Aminoisobutyric acid
  • (+)-beta-Aminoisobutyric acid
  • (S)-3-amino-2-methyl-Propanoate
4249-19-8
(S)-Methylmalonic acid semialdehyde
  • (2S)-2-methyl-3-oxopropanoate
  • (2S)-2-methyl-3-oxopropanoic acid
  • (S)-Methylmalonate semialdehyde
99043-16-0
2-Methyl-3-oxopropanoic acid
  • 2-Methyl-3-oxopropanoate
  • 2-Methyl-3-oxopropanoic acid
  • 3-Oxo-2-methylpropanoate
  • 3-Oxo-2-methylpropanoic acid
  • Ch3-malonate-semialdehyde
6236-08-4
4-ene-Valproic acid
Beta-Alanyl-CoA
  • beta-Alanyl-CoA
  • beta-Alanyl-Coenzyme A

(5) Tocris Compounds for ABAT Gene

Compound Action Cas Number
3-Methyl-GABA Activator of GABA amino-transferase 71424-95-8
Ellagic acid Selective inhibitor of CK2. Also inhibits glutathione S-transferase 476-66-4
Fumonisin B1 Inhibitor of sphingosine N-acyltransferase 116355-83-0
Miglustat hydrochloride alpha-glucosidase I and II inhibitor. Also inhibits ceramide-specific glycosyltransferases 210110-90-0
Vigabatrin GABA-T inhibitor 60643-86-9
genes like me logo Genes that share compounds with ABAT: view

Transcripts for ABAT Gene

Unigene Clusters for ABAT Gene

4-aminobutyrate aminotransferase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ABAT Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
SP1: - - - - - - - - -
SP2: -
SP3: - - - - - - -
SP4: - -
SP5: -
SP6: -
SP7: - - -
SP8:

Relevant External Links for ABAT Gene

GeneLoc Exon Structure for
ABAT
ECgene alternative splicing isoforms for
ABAT

Expression for ABAT Gene

mRNA expression in normal human tissues for ABAT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABAT Gene

This gene is overexpressed in Liver (x5.3) and Brain - Nucleus accumbens (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for ABAT Gene

This gene is overexpressed in Liver, secretome (39.8) and Liver (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ABAT Gene



SOURCE GeneReport for Unigene cluster for ABAT Gene Hs.336768

mRNA Expression by UniProt/SwissProt for ABAT Gene

P80404-GABT_HUMAN
Tissue specificity: Liver > pancreas > brain > kidney > heart > placenta.
genes like me logo Genes that share expression patterns with ABAT: view

Protein tissue co-expression partners for ABAT Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for ABAT Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ABAT Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ABAT 35
  • 90.13 (n)
  • 94 (a)
ABAT 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABAT 35
  • 90.93 (n)
  • 94.6 (a)
ABAT 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abat 35
  • 87.2 (n)
  • 91.2 (a)
Abat 16
Abat 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABAT 35
  • 99.33 (n)
  • 98.8 (a)
ABAT 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abat 35
  • 87.53 (n)
  • 91.8 (a)
oppossum
(Monodelphis domestica)
Mammalia ABAT 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
chicken
(Gallus gallus)
Aves ABAT 35
  • 78 (n)
  • 87 (a)
ABAT 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABAT 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abat 35
  • 73 (n)
  • 83.4 (a)
Str.7135 35
African clawed frog
(Xenopus laevis)
Amphibia MGC68458 35
zebrafish
(Danio rerio)
Actinopterygii abat 35
  • 68.07 (n)
  • 69.8 (a)
Dr.5312 35
abat 36
  • 70 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7433 37
  • 53 (a)
CG7433 35
  • 60.69 (n)
  • 55.53 (a)
CG7433 36
  • 52 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006966 35
  • 58.78 (n)
  • 54.69 (a)
worm
(Caenorhabditis elegans)
Secernentea gta-1 35
  • 51.76 (n)
  • 47.8 (a)
gta-1 36
  • 46 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL050C 35
  • 52.03 (n)
  • 43.68 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F20548g 35
  • 51.13 (n)
  • 43.89 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UGA1 35
  • 51.35 (n)
  • 43.95 (a)
UGA1 36
  • 42 (a)
OneToOne
UGA1 38
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9327 35
bread mold
(Neurospora crassa)
Ascomycetes NCU08998 35
  • 57.99 (n)
  • 49.67 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes uga1 35
  • 52.07 (n)
  • 45.33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10243 36
  • 52 (a)
OneToOne
Species with no ortholog for ABAT:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ABAT Gene

ENSEMBL:
Gene Tree for ABAT (if available)
TreeFam:
Gene Tree for ABAT (if available)

Paralogs for ABAT Gene

No data available for Paralogs for ABAT Gene

Variants for ABAT Gene

Sequence variations from dbSNP and Humsavar for ABAT Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_008883 GABA transaminase deficiency (GABATD)
rs1731017 - 8,746,097(-) TCACC(C/T)GAGAT reference, missense
rs8275 -- 8,783,975(+) ATGCT(C/T)TTTTG utr-variant-3-prime
rs9456 -- 8,783,734(+) CGGAG(A/T)CCAAA utr-variant-3-prime
rs10261 -- 8,784,314(-) ACACA(A/G)TTTTG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for ABAT Gene

Variant ID Type Subtype PubMed ID
nsv457393 CNV Gain 19166990
nsv523677 CNV Loss 19592680
nsv905307 CNV Gain 21882294
nsv522342 CNV Loss 19592680
nsv905308 CNV Gain 21882294
nsv522898 CNV Gain 19592680
nsv457394 CNV Gain 19166990
dgv341n27 CNV Gain 19166990
esv2660203 CNV Deletion 23128226
dgv2597n71 CNV Gain 21882294
dgv2598n71 CNV Gain 21882294
nsv457398 CNV Gain 19166990
nsv905311 CNV Gain 21882294
nsv905312 CNV Gain 21882294
dgv2599n71 CNV Gain 21882294
esv2385301 CNV Deletion 18987734

Variation tolerance for ABAT Gene

Residual Variation Intolerance Score: 25.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.64; 31.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ABAT Gene

HapMap Linkage Disequilibrium report
ABAT
Human Gene Mutation Database (HGMD)
ABAT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABAT Gene

Disorders for ABAT Gene

MalaCards: The human disease database

(12) MalaCards diseases for ABAT Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gaba-transaminase deficiency
  • gamma aminobutyric acid transaminase deficiency
gaba aminotransferase deficiency
  • gamma-amino butyric acid transaminase deficiency
succinic semialdehyde dehydrogenase deficiency
  • 4-hydroxybutyric aciduria
homocarnosinosis
  • homocarnosinase deficiency
status epilepticus
  • gcse
- elite association - COSMIC cancer census association via MalaCards
Search ABAT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GABT_HUMAN
  • GABA transaminase deficiency (GABATD) [MIM:613163]: An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. {ECO:0000269 PubMed:10407778}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ABAT

Genetic Association Database (GAD)
ABAT
Human Genome Epidemiology (HuGE) Navigator
ABAT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ABAT
genes like me logo Genes that share disorders with ABAT: view

No data available for Genatlas for ABAT Gene

Publications for ABAT Gene

  1. Screening and sequence determination of a cDNA encoding the human brain 4-aminobutyrate aminotransferase. (PMID: 7721088) Osei Y.D. … Churchich J.E. (Gene 1995) 2 3 4 67
  2. Pyridoxal 5'-phosphate enzymes as targets for therapeutic agents. (PMID: 17504214) Amadasi A. … Mozzarelli A. (Curr. Med. Chem. 2007) 23 25 26
  3. Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high-pressure liquid chromatography-electrospray ionization tandem mass spectrometry. (PMID: 16435204) Schmidt C. … Hoffmann G.F. (J. Inherit. Metab. Dis. 2005) 23 25 26
  4. Effects of vigabatrin intake on brain GABA activity as monitored by spectrally edited magnetic resonance spectroscopy and positron emission tomography. (PMID: 10195585) Weber O.M. … Boesiger P. (Magn Reson Imaging 1999) 23 25 26
  5. Co-administration of gamma-vinyl GABA and cocaine: preclinical assessment of safety. (PMID: 10503933) Molina P.E. … Abumrad N. (Life Sci. 1999) 23 25 26

Products for ABAT Gene

Sources for ABAT Gene

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