ABAT (4-aminobutyrate aminotransferase)

2021-06-01  

Identity

HGNC
ABAT
LOCATION
16p13.2
LOCUSID
18
ALIAS
GABA-AT,GABAT,NPD009

Other Information

Locus ID:

NCBI: 18
MIM: 137150
HGNC: 23
Ensembl: ENSG00000183044

Variants:

dbSNP: 18
ClinVar: 18
TCGA: ENSG00000183044
COSMIC: ABAT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183044ENST00000268251P80404
ENSG00000183044ENST00000268251X5D8S1
ENSG00000183044ENST00000396600P80404
ENSG00000183044ENST00000396600X5D8S1
ENSG00000183044ENST00000425191P80404
ENSG00000183044ENST00000425191X5D8S1
ENSG00000183044ENST00000561870H3BRJ1
ENSG00000183044ENST00000562115H3BPW8
ENSG00000183044ENST00000564714H3BRT1
ENSG00000183044ENST00000565016H3BMJ9
ENSG00000183044ENST00000566590H3BP84
ENSG00000183044ENST00000567812H3BRN4
ENSG00000183044ENST00000568847H3BP74
ENSG00000183044ENST00000569156H3BNQ7

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
beta-Alanine metabolismKEGGko00410
Propanoate metabolismKEGGko00640
Butanoate metabolismKEGGko00650
Valine, leucine and isoleucine degradationKEGGhsa00280
beta-Alanine metabolismKEGGhsa00410
Propanoate metabolismKEGGhsa00640
Butanoate metabolismKEGGhsa00650
Alanine, aspartate and glutamate metabolismKEGGko00250
Alanine, aspartate and glutamate metabolismKEGGhsa00250
Metabolic pathwaysKEGGhsa01100
GABAergic synapseKEGGko04727
GABAergic synapseKEGGhsa04727
GABA (gamma-Aminobutyrate) shuntKEGGhsa_M00027
GABA (gamma-Aminobutyrate) shuntKEGGM00027
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
GABA synthesis, release, reuptake and degradationREACTOMER-HSA-888590
Degradation of GABAREACTOMER-HSA-916853

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA451846valproic acidChemicalPathwayassociated23407051

References

Pubmed IDYearTitleCitations
367189582023Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma concentration of valproic acid in Chinese epilepsy patients.0
371227292023A crucial exosome-related gene pair (AAMP and ABAT) is associated with inflammatory cells in intervertebral disc degeneration.1
367189582023Effects of UGT1A, CYP2C9/19 and ABAT polymorphisms on plasma concentration of valproic acid in Chinese epilepsy patients.0
371227292023A crucial exosome-related gene pair (AAMP and ABAT) is associated with inflammatory cells in intervertebral disc degeneration.1
334049802021Exploring the Genetic Association of the ABAT Gene with Alzheimer's Disease.4
347429202021ABAT targeted by miR-183-5p regulates cell functions in liver cancer.8
334049802021Exploring the Genetic Association of the ABAT Gene with Alzheimer's Disease.4
347429202021ABAT targeted by miR-183-5p regulates cell functions in liver cancer.8
302776542018Gamma-aminobutyric acid transaminase genetic polymorphism is a candidate locus for responsiveness to opioid analgesics in patients with cancer pain: An exploratory study.7
302776542018Gamma-aminobutyric acid transaminase genetic polymorphism is a candidate locus for responsiveness to opioid analgesics in patients with cancer pain: An exploratory study.7
257713052015Decreased expression of ABAT and STC2 hallmarks ER-positive inflammatory breast cancer and endocrine therapy resistance in advanced disease.33
257713052015Decreased expression of ABAT and STC2 hallmarks ER-positive inflammatory breast cancer and endocrine therapy resistance in advanced disease.33
254851642014Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.29
254851642014Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.29
222256762013Variants within the GABA transaminase (ABAT) gene region are associated with somatosensory evoked EEG potentials in families at high risk for affective disorders.3

Citation

Dessen P

ABAT (4-aminobutyrate aminotransferase)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58380