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Aliases for GAD1 Gene

Aliases for GAD1 Gene

  • Glutamate Decarboxylase 1 2 3 3 5
  • Glutamate Decarboxylase 1 (Brain, 67kDa) 2 3
  • Glutamate Decarboxylase 67 KDa Isoform 3 4
  • 67 KDa Glutamic Acid Decarboxylase 3 4
  • GAD-67 3 4
  • GAD 3 4
  • Glutamate Decarboxylase 1 (Brain, 67kD) 2
  • EC 4
  • CPSQ1 3
  • GAD67 4
  • SCP 3

External Ids for GAD1 Gene

Previous HGNC Symbols for GAD1 Gene

  • GAD

Previous GeneCards Identifiers for GAD1 Gene

  • GC02P169724
  • GC02P170214
  • GC02P171637
  • GC02P171875
  • GC02P171498
  • GC02P171381
  • GC02P171669
  • GC02P163562

Summaries for GAD1 Gene

Entrez Gene Summary for GAD1 Gene

  • 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 pathogenic role for this enzyme has been identified in the human pancreas since it has been identified as an autoantigen and an autoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in the stiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency with seizures. Alternative splicing of this gene results in two products, the predominant 67-kD form and a less-frequent 25-kD form. [provided by RefSeq, Jul 2008]

GeneCards Summary for GAD1 Gene

GAD1 (Glutamate Decarboxylase 1) is a Protein Coding gene. Diseases associated with GAD1 include Cerebral Palsy, Spastic Quadriplegic, 1 and Inherited Congenital Spastic Tetraplegia. Among its related pathways are Biogenic Amine Synthesis and Transmission across Chemical Synapses. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and pyridoxal phosphate binding. An important paralog of this gene is GAD2.

UniProtKB/Swiss-Prot for GAD1 Gene

  • Catalyzes the production of GABA.

Gene Wiki entry for GAD1 Gene

Additional gene information for GAD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GAD1 Gene

Genomics for GAD1 Gene

GeneHancer (GH) Regulatory Elements for GAD1 Gene

Promoters and enhancers for GAD1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J170817 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 679.1 +3.9 3930 1.6 PKNOX1 ATF1 ARNT SIN3A ZNF766 SP3 REST ZNF610 SMARCA4 GLIS1 GAD1 ENSG00000235934 ERICH2 GC02P170803
GH02J170814 Enhancer 0.7 ENCODE 664.3 +1.1 1096 0.2 HDAC1 ELF3 SAP130 ARID4B MAX SIN3A ERF ZNF644 RAD21 ZSCAN9 GAD1 ENSG00000235934 GC02P170803
GH02J170812 Enhancer 0.7 ENCODE 650.7 -0.3 -304 0.2 ELF3 CTCF RB1 EBF1 RAD21 CC2D1A ZNF366 ARID2 VEZF1 SCRT2 GAD1 GC02P170803
GH02J170815 Enhancer 0.9 ENCODE 23.2 +2.7 2686 0.2 HDAC1 ATF1 RB1 SIN3A DEAF1 ZNF2 DNMT3B ZNF48 RAD21 ZNF335 GAD1 DAP3P2 RPS15P4 DCAF17 ENSG00000235934 GC02P170803
GH02J170713 Promoter/Enhancer 2.3 UCNEbase EPDnew Ensembl ENCODE dbSUPER 8.7 -97.8 -97769 4.7 HDGF PKNOX1 SMAD1 FOXA2 ARID4B DMAP1 ZNF766 CBX5 ZNF143 PAF1 SP5 LINC01124 LOC101926913 DAP3P2 GAD1 EIF2S2P4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GAD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GAD1 gene promoter:
  • AP-1
  • c-Jun
  • ATF-2
  • HOXA5
  • Pax-5
  • AP-2gamma

Genomic Locations for GAD1 Gene

Genomic Locations for GAD1 Gene
47,942 bases
Plus strand
47,939 bases
Plus strand

Genomic View for GAD1 Gene

Genes around GAD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAD1 Gene

Proteins for GAD1 Gene

  • Protein details for GAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Glutamate decarboxylase 1
    Protein Accession:
    Secondary Accessions:
    • Q49AK1
    • Q53TQ7
    • Q9BU91
    • Q9UHH4

    Protein attributes for GAD1 Gene

    594 amino acids
    Molecular mass:
    66897 Da
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GAD1 Gene

    Alternative splice isoforms for GAD1 Gene


neXtProt entry for GAD1 Gene

Post-translational modifications for GAD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GAD1 Gene

Domains & Families for GAD1 Gene

Gene Families for GAD1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for GAD1 Gene

Suggested Antigen Peptide Sequences for GAD1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the group II decarboxylase family.
  • Belongs to the group II decarboxylase family.
genes like me logo Genes that share domains with GAD1: view

Function for GAD1 Gene

Molecular function for GAD1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the production of GABA.
UniProtKB/Swiss-Prot CatalyticActivity:
L-glutamate = 4-aminobutanoate + CO(2).
GENATLAS Biochemistry:
glutamate decarboxylase 1,brain,67kDa,extramitochondrial,GABA formation,autoantigen in stiff man syndrome,in women affected by breast cancer

Enzyme Numbers (IUBMB) for GAD1 Gene

Phenotypes From GWAS Catalog for GAD1 Gene

Gene Ontology (GO) - Molecular Function for GAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004351 glutamate decarboxylase activity TAS --
GO:0005515 protein binding IPI 10671565
GO:0016595 glutamate binding IEA --
GO:0016829 lyase activity IEA --
GO:0016831 carboxy-lyase activity IEA --
genes like me logo Genes that share ontologies with GAD1: view
genes like me logo Genes that share phenotypes with GAD1: view

Human Phenotype Ontology for GAD1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GAD1 Gene

MGI Knock Outs for GAD1:

Animal Model Products

miRNA for GAD1 Gene

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for GAD1 Gene

Localization for GAD1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GAD1 gene
Compartment Confidence
plasma membrane 5
cytosol 4
mitochondrion 3
nucleus 3
extracellular 2
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 10671565
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005886 plasma membrane TAS --
GO:0005938 cell cortex IEA --
genes like me logo Genes that share ontologies with GAD1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GAD1 Gene

Pathways & Interactions for GAD1 Gene

genes like me logo Genes that share pathways with GAD1: view

Gene Ontology (GO) - Biological Process for GAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006538 glutamate catabolic process TAS 10671565
GO:0006540 glutamate decarboxylation to succinate TAS 1549570
GO:0007268 chemical synaptic transmission TAS 8954991
GO:0007269 neurotransmitter secretion TAS --
GO:0009449 gamma-aminobutyric acid biosynthetic process IEA --
genes like me logo Genes that share ontologies with GAD1: view

No data available for SIGNOR curated interactions for GAD1 Gene

Drugs & Compounds for GAD1 Gene

(57) Drugs for GAD1 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 251
Pyridoxal Phosphate Approved, Investigational Nutra Target, Target, Target, cofactor 17
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 64
gamma-Aminobutyric acid Approved, Investigational Pharma 263

(25) Additional Compounds for GAD1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cysteic acid
  • 3-Sulfoalanine
  • beta-Sulfoalanine
  • Cysteine sulfonic acid
  • 3-Sulphoalanine
  • Cysteate
Ureidosuccinic acid
  • Carbamyl-L-aspartic acid
  • L-Ureidosuccinic acid
  • N-(Aminocarbonyl)-L-aspartic acid
  • N-Carbamoyl-L-aspartate
  • N-Carbamoyl-S-aspartic acid
genes like me logo Genes that share compounds with GAD1: view

Transcripts for GAD1 Gene

mRNA/cDNA for GAD1 Gene

Unigene Clusters for GAD1 Gene

Glutamate decarboxylase 1 (brain, 67kDa):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GAD1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^
SP1: - - - - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - -
SP5: -
SP7: - - - -
SP8: - - -
SP9: - - - - -
SP10: - - - -

ExUns: 16 ^ 17a · 17b · 17c ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b · 22c
SP1: - - -
SP2: - -
SP3: - - -
SP5: - -
SP6: - -
SP11: -

Relevant External Links for GAD1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GAD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GAD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GAD1 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x6.5), Brain - Hypothalamus (x5.9), Brain - Nucleus accumbens (basal ganglia) (x5.3), Brain - Frontal Cortex (BA9) (x5.0), Brain - Putamen (basal ganglia) (x4.9), and Brain - Caudate (basal ganglia) (x4.9).

Protein differential expression in normal tissues from HIPED for GAD1 Gene

This gene is overexpressed in Frontal cortex (32.8), Platelet (18.5), Fetal Brain (11.2), and Retina (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GAD1 Gene

Protein tissue co-expression partners for GAD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GAD1 Gene:


SOURCE GeneReport for Unigene cluster for GAD1 Gene:


mRNA Expression by UniProt/SwissProt for GAD1 Gene:

Tissue specificity: Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain.

Evidence on tissue expression from TISSUES for GAD1 Gene

  • Nervous system(5)
  • Pancreas(4.3)
  • Intestine(3.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GAD1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • face
  • head
  • skull
  • lung
  • rib
  • rib cage
  • pelvis
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with GAD1: view

Orthologs for GAD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GAD1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GAD1 34 33
  • 99.44 (n)
(Monodelphis domestica)
Mammalia GAD1 34
  • 95 (a)
(Canis familiaris)
Mammalia GAD1 34 33
  • 93.71 (n)
(Ornithorhynchus anatinus)
Mammalia GAD1 34
  • 93 (a)
(Bos Taurus)
Mammalia GAD1 34 33
  • 92.71 (n)
(Mus musculus)
Mammalia Gad1 16 34 33
  • 91.62 (n)
(Rattus norvegicus)
Mammalia Gad1 33
  • 91.11 (n)
(Gallus gallus)
Aves GAD67 34
  • 93 (a)
GAD1 33
  • 83.48 (n)
(Anolis carolinensis)
Reptilia GAD1 34
  • 92 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gad1 33
  • 78.86 (n)
Str.6300 33
African clawed frog
(Xenopus laevis)
Amphibia gad1-A 33
(Danio rerio)
Actinopterygii gad1a 34
  • 80 (a)
gad1b 34
  • 80 (a)
gad1 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13444 33
fruit fly
(Drosophila melanogaster)
Insecta Gad1 34 35 33
  • 61.29 (n)
b 35
  • 47 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005866 33
  • 60.43 (n)
(Caenorhabditis elegans)
Secernentea unc-25 34 35 33
  • 58.05 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.19 34
  • 59 (a)
Cin.6607 33
bread mold
(Neurospora crassa)
Ascomycetes NCU06112 33
  • 47.11 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6607 33
Species where no ortholog for GAD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GAD1 Gene

Gene Tree for GAD1 (if available)
Gene Tree for GAD1 (if available)
Evolutionary constrained regions (ECRs) for GAD1: view image

Paralogs for GAD1 Gene

Paralogs for GAD1 Gene

(5) SIMAP similar genes for GAD1 Gene using alignment to 9 proteins:

  • C9J6C9_HUMAN
  • C9JN45_HUMAN
  • C9JT43_HUMAN
  • F8WD43_HUMAN
  • Q49AK1_HUMAN
  • U3KQR2_HUMAN Pseudogenes for GAD1 Gene

genes like me logo Genes that share paralogs with GAD1: view

Variants for GAD1 Gene

Sequence variations from dbSNP and Humsavar for GAD1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1015584195 uncertain-significance, Cerebral palsy spastic quadriplegic 170,816,936(+) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1023599657 uncertain-significance, Cerebral palsy spastic quadriplegic 170,816,951(+) G/A/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs112737041 uncertain-significance, Cerebral palsy spastic quadriplegic 170,831,044(+) T/C coding_sequence_variant, synonymous_variant
rs113828797 uncertain-significance, Cerebral palsy spastic quadriplegic 170,859,706(+) A/G genic_downstream_transcript_variant, intron_variant
rs121918345 pathogenic, Cerebral palsy, spastic quadriplegic, 1, Cerebral palsy, spastic quadriplegic 1 (CPSQ1) [MIM:603513] 170,818,626(+) C/G/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for GAD1 Gene

Variant ID Type Subtype PubMed ID
esv2673900 CNV deletion 23128226
esv2721125 CNV deletion 23290073
esv2721126 CNV deletion 23290073
esv2721127 CNV deletion 23290073
esv2721129 CNV deletion 23290073
nsv508179 CNV deletion 20534489
nsv528929 CNV loss 19592680

Variation tolerance for GAD1 Gene

Residual Variation Intolerance Score: 15.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.74; 66.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GAD1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAD1 Gene

Disorders for GAD1 Gene

MalaCards: The human disease database

(32) MalaCards diseases for GAD1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cerebral palsy, spastic quadriplegic, 1
  • cpsq1
inherited congenital spastic tetraplegia
  • spastic quadriplegic cerebral palsy
stiff-person syndrome
  • sps
limbic encephalitis
cerebral palsy
  • infantile cerebral palsy
- elite association - COSMIC cancer census association via MalaCards
Search GAD1 in MalaCards View complete list of genes associated with diseases


  • Cerebral palsy, spastic quadriplegic 1 (CPSQ1) [MIM:603513]: A non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system. Affected individuals manifest symmetrical, non-progressive spasticity and no adverse perinatal history or obvious underlying alternative diagnosis. Developmental delay, mental retardation and sometimes epilepsy can be part of the clinical picture. {ECO:0000269 PubMed:15571623}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GAD1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GAD1: view

No data available for Genatlas for GAD1 Gene

Publications for GAD1 Gene

  1. Two human glutamate decarboxylases, 65-kDa GAD and 67-kDa GAD, are each encoded by a single gene. (PMID: 1549570) Bu DF … Tobin AJ (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4 22 58
  2. A population-based association study of glutamate decarboxylase 1 as a candidate gene for autism. (PMID: 19139806) Buttenschøn HN … Mors O (Journal of neural transmission (Vienna, Austria : 1996) 2009) 3 22 44 58
  3. Associations of glutamate decarboxylase genes with initial sensitivity and age-at-onset of alcohol dependence in the Irish Affected Sib Pair Study of Alcohol Dependence. (PMID: 19111404) Kuo PH … Riley BP (Drug and alcohol dependence 2009) 3 22 44 58
  4. Comprehensive analysis of polymorphisms throughout GAD1 gene: a family-based association study in schizophrenia. (PMID: 18335162) Du J … He L (Journal of neural transmission (Vienna, Austria : 1996) 2008) 3 22 44 58
  5. GABA production by glutamic acid decarboxylase is regulated by a dynamic catalytic loop. (PMID: 17384644) Fenalti G … Whisstock JC (Nature structural & molecular biology 2007) 3 4 22 58

Products for GAD1 Gene

Sources for GAD1 Gene

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