Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2571
Gene name	Glutamate decarboxylase 1
Gene symbol	GAD1
Synonyms (NCBI Gene)	CPSQ1DEE89GADSCP
Chromosome	2
Chromosome location	2q31.1
Summary	This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from L-glutamic acid. A path

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918345	C>G,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs774953382	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1575446166	T>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant

Show/Hide all (18)

miRTarBase ID	miRNA	Experiments	Reference
MIRT756090	hsa-miR-24-3p	Luciferase reporter assayWestern blotting	36814556
MIRT1010176	hsa-miR-105	CLIP-seq
MIRT1010177	hsa-miR-1253	CLIP-seq
MIRT1010178	hsa-miR-1324	CLIP-seq
MIRT1010179	hsa-miR-2278	CLIP-seq
MIRT1010180	hsa-miR-24	CLIP-seq
MIRT1010181	hsa-miR-4284	CLIP-seq
MIRT1010182	hsa-miR-4468	CLIP-seq
MIRT1010183	hsa-miR-4645-3p	CLIP-seq
MIRT1010184	hsa-miR-4719	CLIP-seq
MIRT1010185	hsa-miR-4753-3p	CLIP-seq
MIRT1010186	hsa-miR-4768-5p	CLIP-seq
MIRT1010187	hsa-miR-600	CLIP-seq
MIRT1010188	hsa-miR-9	CLIP-seq
MIRT2536560	hsa-miR-3944-5p	CLIP-seq
MIRT2536561	hsa-miR-935	CLIP-seq
MIRT2536560	hsa-miR-3944-5p	CLIP-seq
MIRT2536561	hsa-miR-935	CLIP-seq

Show/Hide all (5)

Transcription factor	Regulation	Reference
ARNT	Unknown	18335162
DNMT1	Repression	19029285
HDAC1	Repression	19029285
MECP2	Repression	19029285
XBP1	Unknown	18335162

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004351	Function	Glutamate decarboxylase activity	IBA
GO:0004351	Function	Glutamate decarboxylase activity	IDA	10671565, 17384644
GO:0004351	Function	Glutamate decarboxylase activity	IEA
GO:0005515	Function	Protein binding	IPI	10671565, 16189514, 17474147, 21516116, 25416956, 26871637, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IEA
GO:0006538	Process	L-glutamate catabolic process	IDA	17384644
GO:0006538	Process	L-glutamate catabolic process	TAS	10671565
GO:0006540	Process	Gamma-aminobutyrate shunt	TAS	1549570
GO:0007268	Process	Chemical synaptic transmission	TAS	8954991
GO:0009449	Process	Gamma-aminobutyric acid biosynthetic process	IBA
GO:0009449	Process	Gamma-aminobutyric acid biosynthetic process	IDA	17384644
GO:0009449	Process	Gamma-aminobutyric acid biosynthetic process	IEA
GO:0012506	Component	Vesicle membrane	NAS	10671565
GO:0016829	Function	Lyase activity	IEA
GO:0016830	Function	Carbon-carbon lyase activity	IEA
GO:0016831	Function	Carboxy-lyase activity	IEA
GO:0019752	Process	Carboxylic acid metabolic process	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0030424	Component	Axon	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035641	Process	Locomotory exploration behavior	IEA
GO:0042802	Function	Identical protein binding	IDA	17384644
GO:0043679	Component	Axon terminus	IEA
GO:0044306	Component	Neuron projection terminus	IEA
GO:0045202	Component	Synapse	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048786	Component	Presynaptic active zone	IBA
GO:0048786	Component	Presynaptic active zone	IEA
GO:0060077	Component	Inhibitory synapse	IEA
GO:0061202	Component	Clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS
GO:0098793	Component	Presynapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA

MIM	HGNC	e!Ensembl
605363	4092	ENSG00000128683

Q99259

Protein name

Glutamate decarboxylase 1 (EC 4.1.1.15) (67 kDa glutamic acid decarboxylase) (GAD-67) (Glutamate decarboxylase 67 kDa isoform)

Protein function

Catalyzes the synthesis of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) with pyridoxal 5'-phosphate as cofactor. ; [Isoform 3]: Enzymatically inactive as glut

PDB

2OKJ , 3VP6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00282	Pyridoxal_deC	144 → 518	Pyridoxal-dependent decarboxylase conserved domain	Domain

Tissue specificity

TISSUE SPECIFICITY: [Isoform 1]: Expressed in brain. {ECO:0000269|PubMed:10671565}.; TISSUE SPECIFICITY: [Isoform 3]: Expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain. {ECO:0000269|PubMed:106715

Sequence

MASSTPSSSATSSNAGADPNTTNLRPTTYDTWCGVAHGCTRKLGLKICGFLQRTNSLEEK
SRLVSAFKERQSSKNLLSCENSDRDARFRRTETDFSNLFARDLLPAKNGEEQTVQFLLEV
VDILLNYVRKTFDRSTKVLDFHHPHQLLEGMEGFNLELSDHPESLEQILVDCRDTLKYGV
RTGHPRFFNQLSTGLDIIGLAGEWLTSTANTNMFTYEIAPVFVLMEQITLKKMREIVGWS
SKDGDGIFSPGGAISNMYSIMAARYKYFPEVKTKGMAAVPKLVLFTSEQSHYSIKKAGAA
LGFGTDNVILIKCNERGKIIPADFEAKILEAKQKGYVPFYVNATAGTTVYGAFDPIQEIA
DICEKYNLWLHVDAAWGGGLLMSRKHRHKLNGIERANSVTWNPHKMMGVLLQCSAILVKE
KGILQGCNQMCAGYLFQPDKQYDVSYDTGDKAIQCGRHVDIFKFWLMWKAKGTVGFENQI
NKCLELAEYLYAKIKNREEFEMVFNGEPEHTNVCFWYIPQSLRGVPDSPQRREKLHKVAP
KIKALMMESGTTMVGYQPQGDKANFFRMVISNPAATQSDIDFLIEEIERLGQDL

Sequence length

594

Interactions

View interactions

	KEGG		Reactome
	Alanine, aspartate and glutamate metabolism beta-Alanine metabolism Taurine and hypotaurine metabolism Butanoate metabolism Metabolic pathways GABAergic synapse Type I diabetes mellitus		GABA synthesis GABA synthesis, release, reuptake and degradation

223

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy 89	Pathogenic; Likely pathogenic	rs1161418050, rs2105795792, rs774772554, rs2105801986, rs1190356035, rs2468367688, rs1189720963, rs1181224255, rs1702866781, rs1702579715, rs1702611329, rs745595462	RCV001789738 RCV001789739 RCV001789740 RCV001789741 RCV002468714 RCV003226688 RCV003989971 RCV004820862 RCV001270690 RCV001270691 RCV001270692 RCV001270693
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	Likely pathogenic; Pathogenic	rs2468338472, rs1181224255, rs1575446166	RCV003044186 RCV001836863 RCV001836925

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs769393	RCV005919549
GAD1-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	rs112737041, rs146199288, rs143058194, rs747269862, rs1300078227, rs139531653	RCV003950146 RCV003922430 RCV003957711 RCV003976893 RCV003971422 RCV003948005
Gastric cancer	Benign; Likely benign	rs769393, rs113828797	RCV005919547 RCV005895974
Hereditary spastic paraplegia	Conflicting classifications of pathogenicity	rs143058194	RCV000515943
Infantile spasms	Benign; Likely benign	rs77655188	RCV000678798
Lung cancer	Likely benign	rs113828797	RCV005895976
Melanoma	Likely benign	rs113828797	RCV005895975
Pyridoxine-dependent epilepsy	Uncertain significance	rs749599647	RCV000678796
Refractory epilepsy	Uncertain significance	rs749599647	RCV000678797
Spastic quadriplegic cerebral palsy	Uncertain significance	rs560889153, rs886055101	RCV005414490 RCV005414491
Thymoma	Benign	rs769393	RCV005919548
Uterine corpus endometrial carcinoma	Benign	rs769393	RCV005919550
Uveal melanoma	Likely benign	rs375640311	RCV005926524

Show/Hide Text Mining Associations (74)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	24551133
Adenocarcinoma of Lung	Associate	31207151
Adenoma Islet Cell	Associate	26676824
Adenoma Islet Cell	Stimulate	32686271
Autistic Disorder	Associate	21901839
Autoimmune Diseases	Associate	10209508, 1924293, 21744463, 31733941, 8513574
Autoimmune Diseases of the Nervous System	Associate	31061195
Autoimmune polyendocrinopathy syndrome type 1	Associate	10594551
Bipolar Disorder	Associate	15684088, 17442540, 18294085, 26554713
Bipolar Disorder	Inhibit	19564623
Brain Diseases	Stimulate	31100147
Carcinoma Renal Cell	Associate	24551133
Celiac Disease	Associate	34347922
Cerebellar Ataxia	Associate	15571623
Cerebral Palsy	Associate	15571623, 24228494
Cognition Disorders	Associate	21632647, 31100147
Creutzfeldt Jakob Disease Sporadic	Associate	31061195
Death	Associate	20832408
Depressive Disorder Major	Inhibit	21223646
Depressive Disorder Major	Associate	28935211
Diabetes Mellitus	Associate	10724349, 12153522, 18591848, 19494268, 20056952, 26631888, 27177031, 36150054, 36418577, 8513574
Diabetes Mellitus Type 1	Associate	10594551, 10724349, 11228050, 11238556, 12153522, 1370298, 17392553, 1924293, 19881242, 21785903, 21831970, 22357962, 23600827, 26440526, 26981545 View all (13 more)
Diabetes Mellitus Type 1	Stimulate	26216138
Diabetes Mellitus Type 2	Associate	11228050, 27177031
Drug Related Side Effects and Adverse Reactions	Inhibit	18166740
Dyskinesia Drug Induced	Inhibit	28405611
Epilepsia Partialis Continua	Associate	32977294
Epilepsy	Associate	12585688, 15571623, 25036107, 31525611
Epilepsy Post Traumatic	Associate	22840783
Epilepsy Temporal Lobe	Stimulate	12585688
Graves Disease	Associate	10724349
Hernia Umbilical	Associate	37029735
Hypersensitivity Delayed	Associate	37029735
Inflammation	Associate	31100147
Insulinoma	Associate	30049929
Ketosis	Associate	29459556
Latent Autoimmune Diabetes in Adults	Associate	18059616, 19001190, 20805278
Leukoencephalopathy Progressive Multifocal	Associate	31025264
Limbic Encephalitis	Associate	25036107
Lymphoma T Cell	Stimulate	12153522
Malformations of Cortical Development	Associate	22159125
Malignant mesenchymal tumor	Associate	28245795
Mental Disorders	Associate	22159125
Metatarsus Varus	Associate	37029735
Microcephaly	Associate	37029735
Mood Disorders	Associate	21223646
Multiple Sclerosis	Associate	31100147
Muscular Dystrophy Congenital Megaconial Type	Associate	33986308
Myotonia Congenita	Associate	25036107
Neoplasms	Associate	12579322
Nerve Degeneration	Inhibit	12585688
Nerve Degeneration	Associate	39213470
Nervous System Diseases	Associate	1370298
Neurologic Manifestations	Associate	33986308
Neuronal Ceroid Lipofuscinoses	Associate	15571623
Pancreatic Neoplasms	Associate	19881242
Pancreatitis	Associate	19881242
Panic Disorder	Associate	22662185
Paraneoplastic Syndromes	Associate	20644278
Parkinson Disease	Inhibit	20832408
Parkinson Disease	Associate	23891794, 28405611, 37684533
Progressive Encephalomyelitis with Rigidity	Inhibit	39213470
Psychotic Disorders	Associate	15684088, 22948384
Pyridoxine dependent epilepsy	Associate	10978228
Schizophrenia	Inhibit	15684088, 19564623, 21223646, 21632647
Schizophrenia	Associate	17270400, 17553960, 17961987, 18294085, 22159125, 22496567, 25660468, 27021555, 27328999
Seizures	Associate	12585688
Small Cell Lung Carcinoma	Associate	26631888
Stiff Person Syndrome	Associate	10594551, 15571623, 18971449, 1924293, 32785838, 35798561, 8245784
Stiff Skin Syndrome	Stimulate	18971449
Stiff Skin Syndrome	Associate	20644278
Stress Disorders Post Traumatic	Associate	31291233
Walker Warburg Syndrome	Associate	35026860
Wolfram Syndrome	Associate	16442662

GAD1 (glutamate decarboxylase 1)