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Abat 4-aminobutyrate aminotransferase [ Mus musculus (house mouse) ]

Gene ID: 268860, updated on 7-Aug-2018

Summary

Official Symbol
Abatprovided by MGI
Official Full Name
4-aminobutyrate aminotransferaseprovided by MGI
Primary source
MGI:MGI:2443582
See related
Ensembl:ENSMUSG00000057880 Vega:OTTMUSG00000025937
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
I54; Gabat; Gabaat; Gm9851; Laibat; X61497; AI255750; 9630038C02Rik
Summary
The encoded gene product is responsible for catabolism of gamma-aminobutyric acid (GABA), a mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. Deficiency of this encoded protein includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
Expression
Broad expression in kidney adult (RPKM 106.6), liver adult (RPKM 81.3) and 22 other tissues See more
Orthologs

Genomic context

See Abat in Genome Data Viewer
Location:
16; 16 A1
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 16 NC_000082.6 (8513429..8621568)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 16 NC_000082.5 (8513522..8621661)

Chromosome 16 - NC_000082.6Genomic Context describing neighboring genes Neighboring gene transmembrane protein 114 Neighboring gene predicted gene, 30012 Neighboring gene methyltransferase like 22 Neighboring gene zinc finger, MYND domain containing 19 pseudogene Neighboring gene ferritin light chain 2 pseudogene Neighboring gene transmembrane protein 186

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1) 

Pathways from BioSystems

General gene information

Markers

Homology

Gene Ontology Provided by MGI

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 
4-aminobutyrate transaminase activity ISO
Inferred from Sequence Orthology
more info
 
contributes_to 4-aminobutyrate transaminase activity ISO
Inferred from Sequence Orthology
more info
 
catalytic 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 ISO
Inferred from Sequence Orthology
more info
 
pyridoxal phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pyridoxal phosphate binding ISO
Inferred from Sequence Orthology
more info
 
transaminase activity IEA
Inferred from Electronic Annotation
more info
 
transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
aging ISO
Inferred from Sequence Orthology
more info
 
behavioral response to cocaine IMP
Inferred from Mutant Phenotype
more info
PubMed 
copulation ISO
Inferred from Sequence Orthology
more info
 
exploration behavior ISO
Inferred from Sequence Orthology
more info
 
gamma-aminobutyric acid biosynthetic process ISO
Inferred from Sequence Orthology
more info
 
gamma-aminobutyric acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-aminobutyric acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
locomotory behavior ISO
Inferred from Sequence Orthology
more info
 
negative regulation of blood pressure ISO
Inferred from Sequence Orthology
more info
 
negative regulation of dopamine secretion ISO
Inferred from Sequence Orthology
more info
 
negative regulation of gamma-aminobutyric acid secretion ISO
Inferred from Sequence Orthology
more info
 
negative regulation of platelet aggregation ISO
Inferred from Sequence Orthology
more info
 
neurotransmitter catabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of aspartate secretion ISO
Inferred from Sequence Orthology
more info
 
positive regulation of dopamine metabolic process ISO
Inferred from Sequence Orthology
more info
 
positive regulation of heat generation ISO
Inferred from Sequence Orthology
more info
 
positive regulation of inhibitory postsynaptic potential ISO
Inferred from Sequence Orthology
more info
 
positive regulation of insulin secretion ISO
Inferred from Sequence Orthology
more info
 
positive regulation of prolactin secretion ISO
Inferred from Sequence Orthology
more info
 
positive regulation of uterine smooth muscle contraction ISO
Inferred from Sequence Orthology
more info
 
response to cocaine ISO
Inferred from Sequence Orthology
more info
 
response to drug ISO
Inferred from Sequence Orthology
more info
 
response to ethanol ISO
Inferred from Sequence Orthology
more info
 
response to hypoxia ISO
Inferred from Sequence Orthology
more info
 
response to iron ion ISO
Inferred from Sequence Orthology
more info
 
response to nicotine ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
4-aminobutyrate transaminase complex ISO
Inferred from Sequence Orthology
more info
 
mitochondrial matrix ISO
Inferred from Sequence Orthology
more info
 
mitochondrion HDA PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion ISO
Inferred from Sequence Orthology
more info
 
neuron projection ISO
Inferred from Sequence Orthology
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
beta-alanine oxoglutarate aminotransferase
gamma-amino-N-butyrate transaminase
NP_001164449.1
NP_766549.2

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.

mRNA and Protein(s)

  1. NM_001170978.1NP_001164449.1  4-aminobutyrate aminotransferase, mitochondrial isoform 2 precursor

    See identical proteins and their annotated locations for NP_001164449.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded protein, isoform 2, is shorter compared to isoform 1.
    Source sequence(s)
    AK036128, BC058521, CX237932
    Consensus CDS
    CCDS49754.1
    UniProtKB/Swiss-Prot
    P61922
    Related
    ENSMUSP00000111505.2, OTTMUSP00000032187, ENSMUST00000115839.8, OTTMUST00000064736
    Conserved Domains (2) summary
    COG0160
    Location:42442
    GabT; 4-aminobutyrate aminotransferase or related aminotransferase [Amino acid transport and metabolism]
    cl18945
    Location:34440
    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 ...
  2. NM_172961.3NP_766549.2  4-aminobutyrate aminotransferase, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_766549.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC058521, CX237932
    Consensus CDS
    CCDS27939.1
    UniProtKB/Swiss-Prot
    P61922
    Related
    ENSMUSP00000063548.7, OTTMUSP00000031702, ENSMUST00000065987.13, OTTMUST00000063947
    Conserved Domains (2) summary
    TIGR00699
    Location:34496
    GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type
    COG0160
    Location:42498
    GabT; 4-aminobutyrate aminotransferase or related aminotransferase [Amino acid transport and metabolism]

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000082.6 Reference GRCm38.p4 C57BL/6J

    Range
    8513429..8621568
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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