ABAT (4-aminobutyrate aminotransferase)

2021-06-01 Affiliation

Identity

HGNC

ABAT

LOCATION

16p13.2

LOCUSID

ALIAS

GABA-AT,GABAT,NPD009

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000183044	ENST00000268251	P80404
ENSG00000183044	ENST00000268251	X5D8S1
ENSG00000183044	ENST00000396600	P80404
ENSG00000183044	ENST00000396600	X5D8S1
ENSG00000183044	ENST00000425191	P80404
ENSG00000183044	ENST00000425191	X5D8S1
ENSG00000183044	ENST00000561870	H3BRJ1
ENSG00000183044	ENST00000562115	H3BPW8
ENSG00000183044	ENST00000564714	H3BRT1
ENSG00000183044	ENST00000565016	H3BMJ9
ENSG00000183044	ENST00000566590	H3BP84
ENSG00000183044	ENST00000567812	H3BRN4
ENSG00000183044	ENST00000568847	H3BP74
ENSG00000183044	ENST00000569156	H3BNQ7

Expression (GTEx)

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

Pathway	Source	External ID
Valine, leucine and isoleucine degradation	KEGG	ko00280
beta-Alanine metabolism	KEGG	ko00410
Propanoate metabolism	KEGG	ko00640
Butanoate metabolism	KEGG	ko00650
Valine, leucine and isoleucine degradation	KEGG	hsa00280
beta-Alanine metabolism	KEGG	hsa00410
Propanoate metabolism	KEGG	hsa00640
Butanoate metabolism	KEGG	hsa00650
Alanine, aspartate and glutamate metabolism	KEGG	ko00250
Alanine, aspartate and glutamate metabolism	KEGG	hsa00250
Metabolic pathways	KEGG	hsa01100
GABAergic synapse	KEGG	ko04727
GABAergic synapse	KEGG	hsa04727
GABA (gamma-Aminobutyrate) shunt	KEGG	hsa_M00027
GABA (gamma-Aminobutyrate) shunt	KEGG	M00027
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Release Cycle	REACTOME	R-HSA-112310
GABA synthesis, release, reuptake and degradation	REACTOME	R-HSA-888590
Degradation of GABA	REACTOME	R-HSA-916853

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA451846	valproic acid	Chemical	Pathway	associated			23407051

References

Pubmed ID	Year	Title	Citations
19598235	2009	Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.	92
20659789	2010	Common variants conferring risk of schizophrenia: a pathway analysis of GWAS data.	85
15830322	2005	Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT.	65
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
18334916	2008	Pathway-based association analysis of genome-wide screening data suggest that genes associated with the gamma-aminobutyric acid receptor signaling pathway are involved in neuroleptic-induced, treatment-resistant tardive dyskinesia.	22
20052547	2010	A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.	22
25485164	2014	Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.	19
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
20677014	2010	An approach based on a genome-wide association study reveals candidate loci for narcolepsy.	16
25771305	2015	Decreased expression of ABAT and STC2 hallmarks ER-positive inflammatory breast cancer and endocrine therapy resistance in advanced disease.	10

Citation

Dessen P

ABAT (4-aminobutyrate aminotransferase)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

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