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

Gene ID: 268860, updated on 8-Jan-2023

Summary

Official Symbol
Abatprovided by MGI
Official Full Name
4-aminobutyrate aminotransferaseprovided by MGI
Primary source
MGI:MGI:2443582
See related
Ensembl:ENSMUSG00000057880 AllianceGenome:MGI:2443582
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; 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
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Genomic context

See Abat in Genome Data Viewer
Location:
16; 16 A1
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (8331293..8439432)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (8513429..8621568)

Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 30012 Neighboring gene methyltransferase like 22 Neighboring gene predicted gene, 23706 Neighboring gene zinc finger, MYND domain containing 19 pseudogene Neighboring gene ferritin light chain 2 pseudogene Neighboring gene transmembrane protein 186 Neighboring gene phosphomannomutase 2

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

Bibliography

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1) 
  • Endonuclease-mediated (4) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables (S)-3-amino-2-methylpropionate transaminase activity IEA
Inferred from Electronic Annotation
more info
 
enables 4-aminobutyrate transaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to 4-aminobutyrate transaminase activity ISO
Inferred from Sequence Orthology
more info
 
enables 4-aminobutyrate transaminase activity ISO
Inferred from Sequence Orthology
more info
 
enables 4-aminobutyrate:2-oxoglutarate transaminase activity IEA
Inferred from Electronic Annotation
more info
 
enables catalytic activity IEA
Inferred from Electronic Annotation
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
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 ISO
Inferred from Sequence Orthology
more info
 
enables transaminase activity IEA
Inferred from Electronic Annotation
more info
 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in aging ISO
Inferred from Sequence Orthology
more info
 
involved_in behavioral response to cocaine IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in copulation ISO
Inferred from Sequence Orthology
more info
 
involved_in exploration behavior ISO
Inferred from Sequence Orthology
more info
 
involved_in gamma-aminobutyric acid biosynthetic process ISO
Inferred from Sequence Orthology
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 ISO
Inferred from Sequence Orthology
more info
 
involved_in locomotory behavior ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of blood pressure ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of dopamine secretion ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of gamma-aminobutyric acid secretion ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of platelet aggregation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within neurotransmitter catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of aspartate secretion ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of dopamine metabolic process ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of heat generation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of inhibitory postsynaptic potential ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of insulin secretion ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of prolactin secretion ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of uterine smooth muscle contraction ISO
Inferred from Sequence Orthology
more info
 
involved_in response to cocaine ISO
Inferred from Sequence Orthology
more info
 
involved_in response to ethanol ISO
Inferred from Sequence Orthology
more info
 
involved_in response to hypoxia ISO
Inferred from Sequence Orthology
more info
 
involved_in response to iron ion ISO
Inferred from Sequence Orthology
more info
 
involved_in response to nicotine ISO
Inferred from Sequence Orthology
more info
 
involved_in response to xenobiotic stimulus ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
part_of 4-aminobutyrate transaminase complex ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrial matrix ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
 
located_in 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)

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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.

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
    ENSMUSP00000111505.3, ENSMUST00000115839.9
    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, Q8BZA3
    Related
    ENSMUSP00000063548.8, ENSMUST00000065987.14
    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 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000082.7 Reference GRCm39 C57BL/6J

    Range
    8331293..8439432
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)