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

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: human all
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Genomic context

Location:: 16 A1; 16 4.06 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These findings have provided underlying molecular details for the aggressive behavior of basal-like breast cancer (BLBC). The Snail-mediated downregulation of ABAT expression in BLBC provides tumorigenic and metastatic advantages by activating GABA-mediated Ca(2+)-NFAT1 axis.
Title: Loss of ABAT-Mediated GABAergic System Promotes Basal-Like Breast Cancer Progression by Activating Ca(2+)-NFAT1 Axis.
Propionate-mediated inhibition of neuronal GABA transaminase, an enzyme of the inner mitochondrial membrane, indicates entry of propionate into neuronal mitochondria.Propionate-induced inhibition of energy metabolism in GABAergic neurons may render the striatum, in which >90% of the neurons are GABAergic, particularly vulnerable to degeneration in propionic acidemia
Title: Propionate enters GABAergic neurons, inhibits GABA transaminase, causes GABA accumulation and lethargy in a model of propionic acidemia.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (6)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2Mit169 (e-PCR), detects polymorphism
- UniSTS:129035

Abat (e-PCR), detects polymorphism
- UniSTS:546608

AI255750 (e-PCR)
- UniSTS:165973

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
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	ISO Inferred from Sequence Orthology 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
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 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
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 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 more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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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

EC 2.6.1.19

EC 2.6.1.22

NP_766549.2

EC 2.6.1.19

EC 2.6.1.22

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)

NM_001170978.1 → NP_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/TrEMBL

Q3V1S0

Related

ENSMUSP00000111505.3, ENSMUST00000115839.9

Conserved Domains (2) summary

COG0160
Location:42 → 442

GabT; 4-aminobutyrate aminotransferase or related aminotransferase [Amino acid transport and metabolism]

cl18945
Location:34 → 440

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 ...
NM_172961.3 → NP_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

UniProtKB/TrEMBL

Q3V1S0

Related

ENSMUSP00000063548.8, ENSMUST00000065987.14

Conserved Domains (2) summary

TIGR00699
Location:34 → 496

GABAtrns_euk; 4-aminobutyrate aminotransferase, eukaryotic type

COG0160
Location:42 → 498

GabT; 4-aminobutyrate aminotransferase or related aminotransferase [Amino acid transport and metabolism]