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

Gene ID: 18, updated on 5-Aug-2018

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; Vega:OTTHUMG00000048201
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

Genomic context

See ABAT in Genome Data Viewer
Location:
16p13.2
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (8674587..8784575)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (8768444..8878432)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 114 Neighboring gene methyltransferase like 22 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

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
(S)-3-amino-2-methylpropionate transaminase activity IEA
Inferred from Electronic Annotation
more info
 
4-aminobutyrate transaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to 4-aminobutyrate transaminase activity IDA
Inferred from Direct Assay
more info
PubMed 
4-aminobutyrate transaminase activity TAS
Traceable Author Statement
more info
 
4-aminobutyrate:2-oxoglutarate transaminase activity IEA
Inferred from Electronic Annotation
more info
 
iron-sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
pyridoxal phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pyridoxal phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
succinate-semialdehyde dehydrogenase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
behavioral response to cocaine ISS
Inferred from Sequence or Structural Similarity
more info
 
cerebellum development IEA
Inferred from Electronic Annotation
more info
 
copulation IEA
Inferred from Electronic Annotation
more info
 
exploration behavior IEA
Inferred from Electronic Annotation
more info
 
gamma-aminobutyric acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
gamma-aminobutyric acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-aminobutyric acid catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
negative regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
negative regulation of dopamine secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gamma-aminobutyric acid secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of platelet aggregation IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter catabolic process NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of aspartate secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of dopamine metabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of heat generation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of inhibitory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
positive regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of prolactin secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of uterine smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to iron ion IEA
Inferred from Electronic Annotation
more info
 
response to nicotine IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
4-aminobutyrate transaminase complex IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
 
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
NP_000654.2
NP_001120920.1
NP_065737.2
XP_011520702.1
XP_011520703.1

NCBI Reference Sequences (RefSeq)

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
    5001..114989
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_000654.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR, as compared to variant 1.
    Source sequence(s)
    AC007224, AC012173, BC015628, DC335224
    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_001127448.1NP_001120920.1  4-aminobutyrate aminotransferase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001120920.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' UTR, as compared to variant 1.
    Source sequence(s)
    AC007224, AC012173, AK290501, BC015628
    Consensus CDS
    CCDS10534.1
    UniProtKB/Swiss-Prot
    P80404
    UniProtKB/TrEMBL
    X5D8S1
    Related
    ENSP00000411916.2, OTTHUMP00000255187, ENST00000425191.6, OTTHUMT00000433620
    Conserved Domains (1) summary
    TIGR00699
    Location:34496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type
  3. NM_020686.5NP_065737.2  4-aminobutyrate aminotransferase, mitochondrial precursor

    See identical proteins and their annotated locations for NP_065737.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) has a more distal alternate 5' UTR. Variants 1-3 encode the same protein.
    Source sequence(s)
    AC007224, AC012173, BC015628, DB443567
    Consensus CDS
    CCDS10534.1
    UniProtKB/Swiss-Prot
    P80404
    UniProtKB/TrEMBL
    X5D8S1
    Related
    ENSP00000268251.8, OTTHUMP00000045876, ENST00000268251.12, OTTHUMT00000109648
    Conserved Domains (1) summary
    TIGR00699
    Location:34496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    8674587..8784575
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522401.2XP_011520703.1  4-aminobutyrate aminotransferase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011520703.1

    UniProtKB/Swiss-Prot
    P80404
    UniProtKB/TrEMBL
    X5D8S1
    Related
    ENSP00000456330.1, OTTHUMP00000255186, ENST00000567812.5, OTTHUMT00000433619
    Conserved Domains (1) summary
    TIGR00699
    Location:34496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type
  2. XM_011522400.2XP_011520702.1  4-aminobutyrate aminotransferase, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011520702.1

    UniProtKB/Swiss-Prot
    P80404
    UniProtKB/TrEMBL
    X5D8S1
    Conserved Domains (1) summary
    TIGR00699
    Location:34496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type
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