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ABAT 4-aminobutyrate aminotransferase [ Homo sapiens (human) ]

Gene ID: 18, updated on 5-Jan-2022

Summary

Official Symbol
ABATprovided by HGNC
Official Full Name
4-aminobutyrate aminotransferaseprovided by HGNC
Primary source
HGNC:HGNC:23
See related
Ensembl:ENSG00000183044 MIM:137150
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GABAT; NPD009; GABA-AT
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]
Expression
Biased expression in liver (RPKM 93.2), kidney (RPKM 61.6) and 11 other tissues See more
Orthologs
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Genomic context

See ABAT in Genome Data Viewer
Location:
16p13.2
Exon count:
22
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (8674617..8784570)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (8768474..8878427)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 114 Neighboring gene methyltransferase 22, Kin17 lysine Neighboring gene RNA, 7SL, cytoplasmic 743, pseudogene Neighboring gene RNA, U7 small nuclear 63 pseudogene Neighboring gene uncharacterized LOC107984840 Neighboring gene transmembrane protein 186 Neighboring gene phosphomannomutase 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ17813, FLJ30272

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables (S)-3-amino-2-methylpropionate transaminase activity IEA
Inferred from Electronic Annotation
more info
 
contributes_to 4-aminobutyrate transaminase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables 4-aminobutyrate:2-oxoglutarate transaminase activity IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables iron-sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables pyridoxal phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables pyridoxal phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
enables succinate-semialdehyde dehydrogenase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in aging IEA
Inferred from Electronic Annotation
more info
 
involved_in behavioral response to cocaine ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cerebellum development IEA
Inferred from Electronic Annotation
more info
 
involved_in copulation IEA
Inferred from Electronic Annotation
more info
 
involved_in exploration behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in gamma-aminobutyric acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
involved_in gamma-aminobutyric acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in gamma-aminobutyric acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of dopamine secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of gamma-aminobutyric acid secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of platelet aggregation IEA
Inferred from Electronic Annotation
more info
 
involved_in neurotransmitter catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
involved_in positive regulation of aspartate secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of dopamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of heat generation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of inhibitory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of prolactin secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of uterine smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
involved_in response to ethanol IEA
Inferred from Electronic Annotation
more info
 
involved_in response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
involved_in response to iron ion IEA
Inferred from Electronic Annotation
more info
 
involved_in response to nicotine IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of 4-aminobutyrate transaminase complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in neuron projection IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
4-aminobutyrate aminotransferase, mitochondrial
Names
(S)-3-amino-2-methylpropionate transaminase
4-aminobutyrate transaminase
GABA aminotransferase
GABA transaminase
GABA transferase
gamma-amino-N-butyrate transaminase
gamma-aminobutyrate aminotransferase
NP_000654.2
NP_001120920.1
NP_001373529.1
NP_001373530.1
NP_001373531.1
NP_001373532.1
NP_001373533.1
NP_001373534.1
NP_001373535.1
NP_001373536.1
NP_001373537.1
NP_001373538.1
NP_001373539.1
NP_001373540.1
NP_001373541.1
NP_001373542.1
NP_001373543.1
NP_001373544.1
NP_001373545.1
NP_065737.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008432.1 RefSeqGene

    Range
    5031..114984
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000663.5NP_000654.2  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_000654.2

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Consensus CDS
    CCDS10534.1
    UniProtKB/Swiss-Prot
    P80404
    UniProtKB/TrEMBL
    X5D8S1
    Related
    ENSP00000379845.2, ENST00000396600.6
    Conserved Domains (1) summary
    TIGR00699
    Location:34496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type
  2. NM_001127448.2NP_001120920.1  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_001120920.1

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173, AK290501, BC015628
    Consensus CDS
    CCDS10534.1
    UniProtKB/Swiss-Prot
    P80404
    UniProtKB/TrEMBL
    X5D8S1
    Related
    ENSP00000411916.2, ENST00000425191.6
    Conserved Domains (1) summary
    TIGR00699
    Location:34496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type
  3. NM_001386600.1NP_001373529.1  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Conserved Domains (1) summary
    TIGR00699
    Location:34496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type
  4. NM_001386601.1NP_001373530.1  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Conserved Domains (1) summary
    TIGR00699
    Location:34496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type
  5. NM_001386602.1NP_001373531.1  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Conserved Domains (1) summary
    TIGR00699
    Location:34496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type
  6. NM_001386603.1NP_001373532.1  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Conserved Domains (1) summary
    TIGR00699
    Location:34496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type
  7. NM_001386604.1NP_001373533.1  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Conserved Domains (1) summary
    TIGR00699
    Location:34496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type
  8. NM_001386605.1NP_001373534.1  4-aminobutyrate aminotransferase, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Conserved Domains (1) summary
    TIGR00699
    Location:34483
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type
  9. NM_001386606.1NP_001373535.1  4-aminobutyrate aminotransferase, mitochondrial isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Conserved Domains (1) summary
    TIGR00699
    Location:34475
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type
  10. NM_001386607.1NP_001373536.1  4-aminobutyrate aminotransferase, mitochondrial isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Conserved Domains (1) summary
    TIGR00699
    Location:34475
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type
  11. NM_001386608.1NP_001373537.1  4-aminobutyrate aminotransferase, mitochondrial isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Conserved Domains (1) summary
    cl18945
    Location:34465
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
  12. NM_001386609.1NP_001373538.1  4-aminobutyrate aminotransferase, mitochondrial isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Conserved Domains (1) summary
    cl18945
    Location:34423
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
  13. NM_001386610.1NP_001373539.1  4-aminobutyrate aminotransferase, mitochondrial isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Conserved Domains (1) summary
    cl18945
    Location:25451
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
  14. NM_001386611.1NP_001373540.1  4-aminobutyrate aminotransferase, mitochondrial isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Conserved Domains (1) summary
    TIGR00699
    Location:1451
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type
  15. NM_001386612.1NP_001373541.1  4-aminobutyrate aminotransferase, mitochondrial isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Conserved Domains (1) summary
    cl18945
    Location:1430
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
  16. NM_001386613.1NP_001373542.1  4-aminobutyrate aminotransferase, mitochondrial isoform 8

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Conserved Domains (1) summary
    cl18945
    Location:1430
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
  17. NM_001386614.1NP_001373543.1  4-aminobutyrate aminotransferase, mitochondrial isoform 9 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Conserved Domains (1) summary
    cl18945
    Location:24414
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
  18. NM_001386615.1NP_001373544.1  4-aminobutyrate aminotransferase, mitochondrial isoform 10 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Conserved Domains (1) summary
    TIGR00699
    Location:34528
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type
  19. NM_001386616.1NP_001373545.1  4-aminobutyrate aminotransferase, mitochondrial isoform 11 precursor

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173
    Related
    ENSP00000454963.1, ENST00000569156.5
    Conserved Domains (1) summary
    cl18945
    Location:34460
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
  20. NM_020686.6NP_065737.2  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_065737.2

    Status: REVIEWED

    Source sequence(s)
    AC007224, AC012173, BC015628, DB443567
    Consensus CDS
    CCDS10534.1
    UniProtKB/Swiss-Prot
    P80404
    UniProtKB/TrEMBL
    X5D8S1
    Related
    ENSP00000268251.8, ENST00000268251.13
    Conserved Domains (1) summary
    TIGR00699
    Location:34496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    8674617..8784570
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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