Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
18
Gene name Gene Name - the full gene name approved by the HGNC.
4-aminobutyrate aminotransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABAT
Synonyms (NCBI Gene) Gene synonyms aliases
GABA-AT, GABAT, NPD009
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.2
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
137150 23 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 (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
Tissue specificity TISSUE SPECIFICITY: Liver > pancreas > brain > kidney > heart > placenta. {ECO:0000269|PubMed:7851425}.
Sequence
Sequence length 500
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Alanine, aspartate and glutamate metabolism
Valine, leucine and isoleucine degradation
beta-Alanine metabolism
Propanoate metabolism
Butanoate metabolism
Metabolic pathways
GABAergic synapse
  Degradation of GABA
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
15830322
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
27903293
Gamma aminobutyric acid transaminase deficiency Gamma aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency rs121434578, rs724159992, rs724159990, rs724159991, rs1555492932, rs1555494322, rs1567310537, rs1567312671, rs781555217, rs1567300736 27903293, 27604308, 20052547, 10407778, 9746906, 25738457, 31133775
Unknown
Disease term Disease name Evidence References Source
Developmental And Epileptic Encephalopathy genetic developmental and epileptic encephalopathy GenCC
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Adrenocortical Carcinoma Associate 33187258
Autistic Disorder Associate 15830322
Brain Diseases Associate 24395782
Breast Neoplasms Associate 24395782, 33962648, 34172056
Carcinogenesis Associate 37918014
Carcinoma Hepatocellular Associate 33865459, 37918014
Carcinoma Renal Cell Associate 32093682
Developmental Disabilities Associate 29631977
Esophageal Neoplasms Associate 28937628
Gamma aminobutyric acid transaminase deficiency Inhibit 20052547, 27903293