4-aminobutyrate aminotransferase

Summary
Gene Symbol
  • ABAT
Aliases
  • 4-aminobutyrate transaminase
  • GABA transaminase
  • GABA-T
  • GABAT
  • gamma-aminobutyrate aminotransferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
18
HGNC
23
KEGG Gene ID
hsa:18
PubChem
18
Alliance of Genome Resources
Annotation
Keyword
  • Acetylation
  • Aminotransferase
  • Direct protein sequencing
  • Disease variant
  • Disulfide bond
  • Iron-sulfur
  • Mitochondrion
  • Neurotransmitter degradation
  • Pyridoxal phosphate
  • Reference proteome
  • Transit peptide
Proteins
Displaying all 2 entries
UniProt Protein Name
P80404
  • (S)-3-amino-2-methylpropionate transaminase
  • GABA aminotransferase
  • Gamma-amino-N-butyrate transaminase
  • L-AIBAT
X5D8S1
  • (S)-3-amino-2-methylpropionate transaminase
  • GABA aminotransferase
  • Gamma-amino-N-butyrate transaminase
  • L-AIBAT
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000183044

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K13524
Name
4-aminobutyrate aminotransferase / (S)-3-amino-2-methylpropionate transaminase [EC:2.6.1.19 2.6.1.22]
References
Disease
Disease Ontology
Displaying entries 21 - 30 of 53 in total
DO ID Disease Name Source
DOID:11870 Pick's disease
DOID:11963 esophagitis
DOID:12849 autistic disorder
DOID:12858 Huntington's disease
DOID:13548 secondary Parkinson disease
DOID:13976 peptic esophagitis
DOID:1470 major depressive disorder
DOID:1574 alcohol use disorder
DOID:1596 depressive disorder
DOID:162 cancer
The Human Phenotype Ontology
Displaying entries 1 - 10 of 17 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000098 Tall stature
HP:0000278 Retrognathia
HP:0000494 Downslanted palpebral fissures
HP:0001250 Seizure
HP:0001252 Hypotonia
HP:0001254 Lethargy
HP:0001263 Global developmental delay
HP:0001274 Agenesis of corpus callosum
HP:0001321 Cerebellar hypoplasia
Displaying 1 entry
Disease ID Disease Name
OMIM:613163
  • GABA aminotransaminase deficiency

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Acknowledgements

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Last updated: August 19, 2024