GAD1 (glutamate decarboxylase 1)

2014-03-01 Affiliation

Identity

HGNC

GAD1

LOCATION

2q31.1

LOCUSID

2571

ALIAS

CPSQ1,DEE89,GAD,SCP

FUSION GENES

Show Gene Fusions

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: 2571
MIM: 605363
HGNC: 4092
Ensembl: ENSG00000128683

Variants:

dbSNP: 2571
ClinVar: 2571
TCGA: ENSG00000128683
COSMIC: GAD1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000128683	ENST00000344257	Q99259
ENSG00000128683	ENST00000358196	Q99259
ENSG00000128683	ENST00000358196	A0A0S2Z3V5
ENSG00000128683	ENST00000375272	Q99259
ENSG00000128683	ENST00000414527	F8WD43
ENSG00000128683	ENST00000445006	C9JN45
ENSG00000128683	ENST00000454603	C9JLZ7
ENSG00000128683	ENST00000455008	C9J6C9
ENSG00000128683	ENST00000456864	C9JT43
ENSG00000128683	ENST00000486850	U3KQR2
ENSG00000128683	ENST00000493875	Q99259
ENSG00000128683	ENST00000625689	Q99259

Expression (GTEx)

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
beta-Alanine metabolism	KEGG	ko00410
Taurine and hypotaurine metabolism	KEGG	ko00430
Butanoate metabolism	KEGG	ko00650
Type I diabetes mellitus	KEGG	ko04940
beta-Alanine metabolism	KEGG	hsa00410
Taurine and hypotaurine metabolism	KEGG	hsa00430
Butanoate metabolism	KEGG	hsa00650
Type I diabetes mellitus	KEGG	hsa04940
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
GABA synthesis	REACTOME	R-HSA-888568

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA444460	Heroin Dependence	Disease	ClinicalAnnotation	associated		PD	31866536
PA450401	methadone	Chemical	ClinicalAnnotation	associated		PD	31866536

References

Pubmed ID	Year	Title	Citations
34845648	2022	A preliminary genetic association study of GAD1 and GABAB receptor genes in patients with treatment-resistant schizophrenia.	6
35023669	2022	Evaluation of the Diagnostic and Predictive Value of Glutamic Acid Decarboxylase, Zinc Transporter 8 Serum Levels in Alzheimer's Disease.	0
34845648	2022	A preliminary genetic association study of GAD1 and GABAB receptor genes in patients with treatment-resistant schizophrenia.	6
35023669	2022	Evaluation of the Diagnostic and Predictive Value of Glutamic Acid Decarboxylase, Zinc Transporter 8 Serum Levels in Alzheimer's Disease.	0
34125398	2021	Interacting Roles of COMT and GAD1 Genes in Patients with Treatment-Resistant Schizophrenia: a Genetic Association Study of Schizophrenia Patients and Healthy Controls.	5
34310624	2021	Exploring the relationship between white matter integrity, cocaine use and GAD polymorphisms using Bayesian Model Averaging.	0
34638827	2021	Cannabinoid Receptor Type 1 Regulates Drug Reward Behavior via Glutamate Decarboxylase 67 Transcription.	1
34125398	2021	Interacting Roles of COMT and GAD1 Genes in Patients with Treatment-Resistant Schizophrenia: a Genetic Association Study of Schizophrenia Patients and Healthy Controls.	5
34310624	2021	Exploring the relationship between white matter integrity, cocaine use and GAD polymorphisms using Bayesian Model Averaging.	0
34638827	2021	Cannabinoid Receptor Type 1 Regulates Drug Reward Behavior via Glutamate Decarboxylase 67 Transcription.	1
31866536	2020	GAD1 but not GAD2 polymorphisms are associated with heroin addiction phenotypes.	4
32282878	2020	Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.	13
32514855	2020	Glutamic acid decarboxylase antibodies in neurocritical patients: a culprit or a bystander?	1
32705143	2020	Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.	19
31866536	2020	GAD1 but not GAD2 polymorphisms are associated with heroin addiction phenotypes.	4

Citation

Dessen P

GAD1 (glutamate decarboxylase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-03-01

Online version: http://atlasgeneticsoncology.org/gene/53845/gad1-(glutamate-decarboxylase-1)