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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
  • 4-Aminobutyrate Aminotransferase, Mitochondrial 3
  • 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 Succinic Semialdehyde Dehydrogenase Deficiency. Among its related pathways are Circadian entrainment and Neurotransmitter Release Cycle. 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

Enhancers for ABAT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ABAT on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for ABAT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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:0003867 4-aminobutyrate transaminase activity IEA,TAS --
GO:0030170 pyridoxal phosphate binding IDA 15650327
GO:0032145 succinate-semialdehyde dehydrogenase binding ISS --
GO:0042803 protein homodimerization activity IPI 15528998
GO:0046872 metal ion 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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Gene Ontology (GO) - Cellular Components for ABAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,ISS --
GO:0005759 mitochondrial matrix IEA,TAS --
GO:0032144 4-aminobutyrate transaminase complex IDA 15528998
GO:0043005 neuron projection IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with ABAT: view

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:0001666 response to hypoxia IEA --
GO:0007568 aging IEA --
GO:0007620 copulation IEA --
GO:0007626 locomotory behavior IEA --
GO:0009449 gamma-aminobutyric acid biosynthetic 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Vigabatrin Approved Pharma Inhibition, Inhibitor, inhibitor, Target GABA transaminase inhibitor, GABA-T inhibitor 20
Valproic Acid Approved, Investigational Pharma inhibitor, Target HDAC1 inhibitor, Histone deacetylase (HDAC)inhibitors 318
Phenelzine Approved Pharma Target, inhibitor 7
L-Alanine Approved Nutra Full agonist, Agonist, Target, inhibitor Glycine receptor agonist 0
Pyruvic acid Approved Nutra Target, inhibitor 0

(24) 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
GGsTop Inhibitor of gamma-glutamyl transpeptidase (GGT) 926281-37-0
LDN 27219 Transglutaminase 2 (TG2) inhibitor; reversible 312946-37-5
P-3FAX-Neu5Ac Sialic acid analog; sialyltransferase inhibitor 117405-58-0
Vigabatrin GABA-T inhibitor 60643-86-9

(1) ApexBio Compounds for ABAT Gene

Compound Action Cas Number
Vigabatrin GABA transaminase inhibitor 68506-86-5
genes like me logo Genes that share compounds with ABAT: view

Drug Products

Transcripts for ABAT Gene

Unigene Clusters for ABAT Gene

4-aminobutyrate aminotransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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



Protein tissue co-expression partners for ABAT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ABAT Gene:

ABAT

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

Primer 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 34
  • 90.13 (n)
  • 94 (a)
ABAT 35
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABAT 34
  • 90.93 (n)
  • 94.6 (a)
ABAT 35
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abat 34
  • 87.2 (n)
  • 91.2 (a)
Abat 16
Abat 35
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ABAT 34
  • 99.33 (n)
  • 98.8 (a)
ABAT 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abat 34
  • 87.53 (n)
  • 91.8 (a)
oppossum
(Monodelphis domestica)
Mammalia ABAT 35
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 83 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
chicken
(Gallus gallus)
Aves ABAT 34
  • 78 (n)
  • 87 (a)
ABAT 35
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABAT 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abat 34
  • 73 (n)
  • 83.4 (a)
Str.7135 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68458 34
zebrafish
(Danio rerio)
Actinopterygii abat 34
  • 68.07 (n)
  • 69.8 (a)
abat 35
  • 70 (a)
OneToOne
Dr.5312 34
fruit fly
(Drosophila melanogaster)
Insecta CG7433 36
  • 53 (a)
CG7433 34
  • 60.69 (n)
  • 55.53 (a)
CG7433 35
  • 52 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006966 34
  • 58.78 (n)
  • 54.69 (a)
worm
(Caenorhabditis elegans)
Secernentea gta-1 34
  • 51.76 (n)
  • 47.8 (a)
gta-1 35
  • 46 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL050C 34
  • 52.03 (n)
  • 43.68 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F20548g 34
  • 51.13 (n)
  • 43.89 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UGA1 35
  • 42 (a)
OneToOne
UGA1 37
UGA1 34
  • 51.35 (n)
  • 43.95 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9327 34
bread mold
(Neurospora crassa)
Ascomycetes NCU08998 34
  • 57.99 (n)
  • 49.67 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes uga1 34
  • 52.07 (n)
  • 45.33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10243 35
  • 52 (a)
OneToOne
Species where no ortholog for ABAT was found in the sources mined by GeneCards:
  • 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
rs121434578 GABA transaminase deficiency (GABATD) 8,768,248(+) TGGGA(A/G)GACCA reference, missense
rs1731017 - 8,746,097(-) TCACC(C/T)GAGAT reference, missense
rs3065947 -- 8,690,724(+) TTAAG(-/AAG)GTTTT intron-variant
rs3069301 -- 8,710,728(+) gagag(-/GG)AGGAA intron-variant
rs3095510 -- 8,704,671(+) ATATA(A/C)AATTT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv341n27 CNV gain 19166990
dgv4906n54 CNV gain 21841781
esv2385301 CNV deletion 18987734
esv2660203 CNV deletion 23128226
esv2762154 CNV gain 21179565
esv3553088 CNV deletion 23714750
esv3570276 CNV gain 25503493
esv3637839 CNV loss 21293372
esv3637840 CNV loss 21293372
esv3637841 CNV gain 21293372
esv3637842 CNV gain 21293372
esv3637843 CNV loss 21293372
esv3637844 CNV gain 21293372
esv3637845 CNV gain 21293372
esv3892787 CNV gain 25118596
nsv1035233 CNV gain 25217958
nsv1036125 CNV loss 25217958
nsv1036281 CNV gain 25217958
nsv1037325 CNV gain 25217958
nsv1043667 CNV gain 25217958
nsv1047172 CNV gain 25217958
nsv1048675 CNV gain 25217958
nsv1127470 CNV deletion 24896259
nsv457393 CNV gain 19166990
nsv457394 CNV gain 19166990
nsv457398 CNV gain 19166990
nsv522342 CNV loss 19592680
nsv522898 CNV gain 19592680
nsv523677 CNV loss 19592680
nsv571406 CNV gain 21841781
nsv571409 CNV gain 21841781
nsv571424 CNV gain 21841781
nsv571427 CNV gain 21841781
nsv571428 CNV gain 21841781
nsv984256 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
ABAT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABAT

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

Disorders for ABAT Gene

MalaCards: The human disease database

(8) 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
succinic semialdehyde dehydrogenase deficiency
  • 4-hydroxybutyric aciduria
homocarnosinosis
  • homocarnosinase deficiency
gamma-amino butyric acid metabolism disorder
glycine encephalopathy
  • non-ketotic hyperglycinemia
- 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. Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia. (PMID: 18334916) Inada T. … Arinami T. (Pharmacogenet. Genomics 2008) 3 22 46 65
  2. An association study between polymorphisms in five genes in glutamate and GABA pathway and paranoid schizophrenia. (PMID: 15642443) Zhang B. … Shen Y. (Eur. Psychiatry 2005) 3 22 46 65
  3. Cysteine-321 of human brain GABA transaminase is involved in intersubunit cross-linking. (PMID: 15528998) Yoon C.S. … Choi S.Y. (Mol. Cells 2004) 3 4 22 65
  4. 4-aminobutyrate aminotransferase (GABA-transaminase) deficiency. (PMID: 10407778) Medina-Kauwe L.K. … Gibson K.M. (J. Inherit. Metab. Dis. 1999) 3 4 22 65
  5. 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 65

Products for ABAT Gene

Sources for ABAT Gene

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