ABAT (4-aminobutyrate aminotransferase)

Gene

• Entrez ID: 18
• Gene name: 4-aminobutyrate aminotransferase
• Gene symbol: ABAT
• Synonyms: GABA-AT, GABAT, NPD009
• Chromosome: 16
• Chromosome location: 16p13.2
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434578	G>A	Pathogenic	Coding sequence variant, missense variant
rs150914629	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs724159990	C>T	Pathogenic	Missense variant, coding sequence variant
rs724159991	T>C	Pathogenic	Missense variant, coding sequence variant
rs724159992	G>A	Pathogenic	Missense variant, coding sequence variant
rs781555217	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs786205496	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057523345	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1330995774	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555492932	A>G	Pathogenic	Splice acceptor variant
rs1555494322	T>C	Pathogenic	Missense variant, coding sequence variant
rs1567300736	G>A	Pathogenic	Splice donor variant
rs1567310537	C>T	Pathogenic	Missense variant, coding sequence variant
rs1567312671	T>G	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017324	hsa-miR-335-5p	Microarray	18185580
MIRT724384	hsa-miR-7850-5p	HITS-CLIP	19536157
MIRT724385	hsa-miR-4529-3p	HITS-CLIP	19536157
MIRT724386	hsa-miR-4520-2-3p	HITS-CLIP	19536157
MIRT724387	hsa-miR-4520-3p	HITS-CLIP	19536157
MIRT724388	hsa-miR-4709-3p	HITS-CLIP	19536157
MIRT724389	hsa-miR-7162-5p	HITS-CLIP	19536157
MIRT724390	hsa-miR-516b-3p	HITS-CLIP	19536157
MIRT724391	hsa-miR-516a-3p	HITS-CLIP	19536157
MIRT724392	hsa-miR-3188	HITS-CLIP	19536157
MIRT724393	hsa-miR-6088	HITS-CLIP	19536157
MIRT724394	hsa-miR-4770	HITS-CLIP	19536157
MIRT724395	hsa-miR-143-3p	HITS-CLIP	19536157

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003867	Function	4-aminobutyrate transaminase activity	IDA	15528998
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0009448	Process	Gamma-aminobutyric acid metabolic process	IDA	15528998
GO:0009450	Process	Gamma-aminobutyric acid catabolic process	IBA	21873635
GO:0030170	Function	Pyridoxal phosphate binding	IBA	21873635
GO:0030170	Function	Pyridoxal phosphate binding	IDA	15650327
GO:0032144	Component	4-aminobutyrate transaminase complex	IDA	15528998
GO:0032145	Function	Succinate-semialdehyde dehydrogenase binding	ISS
GO:0034386	Function	4-aminobutyrate:2-oxoglutarate transaminase activity	IEA
GO:0042135	Process	Neurotransmitter catabolic process	NAS	15528998
GO:0042802	Function	Identical protein binding	IPI	15528998
GO:0046872	Function	Metal ion binding	IEA
GO:0047298	Function	(S)-3-amino-2-methylpropionate transaminase activity	IEA
GO:0048148	Process	Behavioral response to cocaine	ISS
GO:0051536	Function	Iron-sulfur cluster binding	IEA

Other IDs

• MIM: 137150
• HGNC: 23
• e!Ensembl: ENSG00000183044

Protein

• UniProt ID: P80404
• Protein name: 4-aminobutyrate aminotransferase, mitochondrial (EC 2.6.1.19) ((S)-3-amino-2-methylpropionate transaminase) (EC 2.6.1.22) (GABA aminotransferase) (GABA-AT) (Gamma-amino-N-butyrate transaminase) (GABA transaminase) (GABA-T) (L-AIBAT)
• Protein function: Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00202	Aminotran_3	65 → 496	Aminotransferase class-III	Domain

• Sequence:

  MASMLLAQRLACSFQHSYRLLVPGSRHISQAAAKVDVEFDYDGPLMKTEVPGPRSQELMK
  QLNIIQNAEAVHFFCNYEESRGNYLVDVDGNRMLDLYSQISSVPIGYSHPALLKLIQQPQ
  NASMFVNRPALGILPPENFVEKLRQSLLSVAPKGMSQLITMACGSCSNENALKTIFMWYR
  SKERGQRGFSQEELETCMINQAPGCPDYSILSFMGAFHGRTMGCLATTHSKAIHKIDIPS
  FDWPIAPFPRLKYPLEEFVKENQQEEARCLEEVEDLIVKYRKKKKTVAGIIVEPIQSEGG
  DNHASDDFFRKLRDIARKHGCAFLVDEVQTGGGCTGKFWAHEHWGLDDPADVMTFSKKMM
  TGGFFHKEEFRPNAPYRIFNTWLGDPSKNLLLAEVINIIKREDLLNNAAHAGKALLTGLL
  DLQARYPQFISRVRGRGTFCSFDTPDDSIRNKLILIARNKGVVLGGCGDKSIRFRPTLVF
  RDHHAHLFLNIFSDILADFK

• Sequence length: 500