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ABAT (4-aminobutyrate aminotransferase)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
18
Gene nameGene Name - the full gene name approved by the HGNC.
4-aminobutyrate aminotransferase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ABAT
SynonymsGene synonyms aliases
GABA-AT, GABAT, NPD009
ChromosomeChromosome number
16
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.2
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017324 hsa-miR-335-5p Microarray 18185580
MIRT724395 hsa-miR-143-3p HITS-CLIP 19536157
MIRT724394 hsa-miR-4770 HITS-CLIP 19536157
MIRT724393 hsa-miR-6088 HITS-CLIP 19536157
MIRT724392 hsa-miR-3188 HITS-CLIP 19536157
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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 (PubMed:10407778, PubMed:15528998). Can also convert delta-aminovalerate and beta-alanine (By sim
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00202 Aminotran_3
65 496
Aminotransferase class-III
Domain
Sequence
Sequence length 500
Interactions View interactions

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