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Aliases for ABAT Gene

Aliases for ABAT Gene

  • 4-Aminobutyrate Aminotransferase 2 3
  • (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
  • G 6

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 Transmission across Chemical Synapses. GO annotations related to this gene include protein homodimerization activity and 4-aminobutyrate transaminase activity.

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

Genomic Location for ABAT Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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; Note=Binds 1 [2Fe-2S] cluster per homodimer.;
    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

No data available for DME Specific Peptides for ABAT Gene

Domains 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 :
  • P80404
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 TAS --
GO:0008483 transaminase activity --
GO:0030170 pyridoxal phosphate binding IDA 15650327
GO:0032145 succinate-semialdehyde dehydrogenase binding ISS --
GO:0042803 protein homodimerization activity IPI 15528998
genes like me logo Genes that share ontologies with ABAT: view

Animal Model Products

CRISPR Products

miRNA for ABAT Gene

miRTarBase miRNAs that target ABAT

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABAT

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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
mitochondrion 5
cytosol 1
extracellular 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ABAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005759 mitochondrial matrix 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 for ABAT Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ABAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion TAS --
GO:0007620 copulation IEA --
GO:0007626 locomotory behavior IEA --
genes like me logo Genes that share ontologies with ABAT: view

Compounds for ABAT Gene

(2) Tocris Compounds for ABAT Gene

Compound Action Cas Number
3-Methyl-GABA
Vigabatrin

(15) HMDB Compounds for ABAT Gene

Compound Synonyms Cas Number PubMed IDs
(S)-b-aminoisobutyric acid
  • L-b-Aminoisobutyric acid
4249-19-8
(S)-Methylmalonic acid semialdehyde
  • (S)-Methylmalonate semialdehyde
99043-16-0
2-Methyl-3-oxopropanoic acid
  • 2-Methyl-3-oxopropanoate
6236-08-4
Beta-Alanine
  • 2-Carboxyethylamine
107-95-9
Beta-Alanyl-CoA
  • beta-Alanyl-CoA
Not Available

(9) Drugbank Compounds for ABAT Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
(4e)-4-Aminohex-4-Enoic Acid
target
4-Amino Hexanoic Acid
target
L-Alanine
  • (2S)-2-Aminopropanoic acid
56-41-7 target inhibitor
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 target
Phenelzine
51-71-8 target inhibitor

(45) Novoseek inferred chemical compound relationships for ABAT Gene

Compound -log(P) Hits PubMed IDs
vigabatrin 95.7 92
succinic semialdehyde 92.8 24
aba-t 92.4 10
gaba 90.5 227
tiagabine 80.6 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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ABAT

Primer 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 (5.3) and Brain - Nucleus accumbens (basal ganglia) (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions with ABAT: view

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
chimpanzee
(Pan troglodytes)
Mammalia ABAT 35
  • 99.33 (n)
  • 98.8 (a)
ABAT 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia ABAT 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 89 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Abat 35
  • 87.53 (n)
  • 91.8 (a)
chicken
(Gallus gallus)
Aves ABAT 35
  • 78 (n)
  • 87 (a)
ABAT 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABAT 36
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68458 35
tropical clawed frog
(Silurana tropicalis)
Amphibia abat 35
  • 73 (n)
  • 83.4 (a)
Str.7135 35
zebrafish
(Danio rerio)
Actinopterygii abat 35
  • 68.07 (n)
  • 69.8 (a)
abat 36
  • 70 (a)
OneToOne
Dr.5312 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006966 35
  • 58.78 (n)
  • 54.69 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7433 35
  • 60.69 (n)
  • 55.53 (a)
CG7433 36
  • 52 (a)
OneToOne
CG7433 37
  • 53 (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)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UGA1 35
  • 51.35 (n)
  • 43.95 (a)
UGA1 36
  • 42 (a)
OneToOne
UGA1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F20548g 35
  • 51.13 (n)
  • 43.89 (a)
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 intestinalis)
Ascidiacea Cin.9327 35
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 MAF
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
rs730750 -- 8,689,632(-) CACGG(C/T)TCCCC intron-variant
rs737694 -- 8,781,728(-) TCAAG(A/G)TTGGG 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

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

(1) OMIM Diseases for ABAT Gene (137150)

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.

(19) Novoseek inferred disease relationships for ABAT Gene

Disease -log(P) Hits PubMed IDs
homocarnosinosis 87.4 2
visual field constriction 78.4 2
epilepsy 70.4 21
complex partial seizures 67 1
hyperglycinemia nonketotic 58.4 1

Relevant External Links for ABAT

Genetic Association Database (GAD)
ABAT
Human Genome Epidemiology (HuGE) Navigator
ABAT
genes like me logo Genes that share disorders with ABAT: view

Publications for ABAT Gene

  1. Primary structure and tissue distribution of human 4-aminobutyrate aminotransferase. (PMID: 7851425) de Biase D. … Bossa F. (Eur. J. Biochem. 1995) 3 4 23
  2. 4-aminobutyrate aminotransferase (GABA-transaminase) deficiency. (PMID: 10407778) Medina-Kauwe L.K. … Gibson K.M. (J. Inherit. Metab. Dis. 1999) 3 4 23
  3. 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 23 48
  4. 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 23
  5. 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 23 48

Products for ABAT Gene

Sources for ABAT Gene

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