Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GAD1 Gene

Aliases for GAD1 Gene

  • Glutamate Decarboxylase 1 2 3 5
  • Glutamate Decarboxylase 1 (Brain, 67kDa) 2 3
  • Glutamate Decarboxylase 67 KDa Isoform 3 4
  • 67 KDa Glutamic Acid Decarboxylase 3 4
  • EC 4.1.1.15 4 61
  • GAD-67 3 4
  • GAD 3 4
  • Glutamate Decarboxylase 1 (Brain, 67kD) 2
  • EC 4.1.1 61
  • 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 Beta-alanine metabolism (TR) and Transmission across Chemical Synapses. 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

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

Genomics for GAD1 Gene

Regulatory Elements for GAD1 Gene

Enhancers for GAD1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F170817 0.7 ENCODE 29.1 +3.9 3930 1.6 ATF1 SP3 REST ZNF610 SMARCA4 PBX2 GLIS1 SP7 CTCF HINFP GAD1 ERICH2 ENSG00000235934
GH02F170815 0.2 ENCODE 23.2 +2.7 2686 0.2 HDAC1 ATF1 ZNF76 DEAF1 ZNF48 DNMT3B ZNF2 RAD21 GLIS2 ZNF143 GAD1 ENSG00000235934
GH02F170370 0.6 ENCODE 21.4 -442.8 -442805 0.2 POLR2H ZNF316 REST EMSY GAD1 ENSG00000235934 GC02P170379 GC02P170306
GH02F170814 0.4 ENCODE 14.3 +1.1 1096 0.2 ELF3 SAP130 TEAD4 SIN3A ARID4B MAX ZSCAN9 RAD21 ZNF644 HBP1 GAD1 LOC100130256 ENSG00000235934
GH02F170820 0.6 ENCODE 13.7 +7.1 7116 0.2 RING1 ZFP64 MAX ZNF140 ZNF101 EZH2 ZNF680 RNF2 ZBTB11 CBX2 DCAF17 GORASP2 GAD1 DAP3P2 RPS15P4 ENSG00000235934 GC02M170820
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GAD1 on UCSC Golden Path with GeneCards custom track

Genomic Location for GAD1 Gene

Chromosome:
2
Start:
170,813,210 bp from pter
End:
170,861,151 bp from pter
Size:
47,942 bases
Orientation:
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:
    Q99259-DCE1_HUMAN
    Recommended name:
    Glutamate decarboxylase 1
    Protein Accession:
    Q99259
    Secondary Accessions:
    • Q49AK1
    • Q53TQ7
    • Q9BU91
    • Q9UHH4

    Protein attributes for GAD1 Gene

    Size:
    594 amino acids
    Molecular mass:
    66897 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for GAD1 Gene

Post-translational modifications for GAD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for GAD1 Gene

Gene Families for GAD1 Gene

Suggested Antigen Peptide Sequences for GAD1 Gene

Graphical View of Domain Structure for InterPro Entry

Q99259

UniProtKB/Swiss-Prot:

DCE1_HUMAN :
  • Belongs to the group II decarboxylase family.
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

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

Enzyme Numbers (IUBMB) 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

miRTarBase miRNAs that target GAD1

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for GAD1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GAD1 Gene COMPARTMENTS Subcellular localization image for GAD1 gene
Compartment Confidence
plasma membrane 5
cytosol 4
nucleus 3
cytoskeleton 2
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 10671565
GO:0005886 plasma membrane TAS --
GO:0012506 vesicle membrane NAS 10671565
GO:0048786 presynaptic active zone IEA --
GO:0061202 clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Vet_approved Pharma 0
Famotidine Approved Pharma Histamine H2-receptor antagonist 59
L-Aspartic acid Approved Nutra 0
3-Sulfinoalanine Experimental Pharma 0
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cysteic acid
  • 2-Amino-3-sulfopropanoate
  • 2-Amino-3-sulfopropanoic acid
  • 2-Amino-3-sulfopropionate
  • 2-Amino-3-sulfopropionic acid
  • 3-Sulfoalanine
498-40-8
Ureidosuccinic acid
  • 2-Ureidobutanedioate
  • 2-Ureidobutanedioic acid
  • Carbamoylaspartic acid
  • Carbamyl-L-aspartic acid
  • Carbamylaspartic acid
13184-27-5
genes like me logo Genes that share compounds with GAD1: view

Transcripts for GAD1 Gene

Unigene Clusters for GAD1 Gene

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

Inhibitory RNA Products

Flow Cytometry 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: -
SP6:
SP7: - - - -
SP8: - - -
SP9: - - - - -
SP10: - - - -
SP11:
SP12:
SP13:

ExUns: 16 ^ 17a · 17b · 17c ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b · 22c
SP1: - - -
SP2: - -
SP3: - - -
SP4:
SP5: - -
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:

Relevant External Links for GAD1 Gene

GeneLoc Exon Structure for
GAD1
ECgene alternative splicing isoforms for
GAD1

Expression for GAD1 Gene

mRNA expression in normal human tissues 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, PaxDb, 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:

GAD1

SOURCE GeneReport for Unigene cluster for GAD1 Gene:

Hs.420036

mRNA Expression by UniProt/SwissProt for GAD1 Gene:

Q99259-DCE1_HUMAN
Tissue specificity: Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other endocrine tissues, but not in brain.
genes like me logo Genes that share expression patterns with GAD1: view

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia GAD1 34 35
  • 99.44 (n)
oppossum
(Monodelphis domestica)
Mammalia GAD1 35
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GAD1 34 35
  • 93.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GAD1 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GAD1 34 35
  • 92.71 (n)
mouse
(Mus musculus)
Mammalia Gad1 34 16 35
  • 91.62 (n)
rat
(Rattus norvegicus)
Mammalia Gad1 34
  • 91.11 (n)
chicken
(Gallus gallus)
Aves GAD67 35
  • 93 (a)
OneToOne
GAD1 34
  • 83.48 (n)
lizard
(Anolis carolinensis)
Reptilia GAD1 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gad1 34
  • 78.86 (n)
Str.6300 34
African clawed frog
(Xenopus laevis)
Amphibia gad1-A 34
zebrafish
(Danio rerio)
Actinopterygii gad1a 35
  • 80 (a)
OneToMany
gad1b 35
  • 80 (a)
OneToMany
gad1 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13444 34
fruit fly
(Drosophila melanogaster)
Insecta Gad1 36 34 35
  • 61.29 (n)
b 36
  • 47 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005866 34
  • 60.43 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-25 36 34 35
  • 58.05 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.19 35
  • 59 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU06112 34
  • 47.11 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6607 34
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

ENSEMBL:
Gene Tree for GAD1 (if available)
TreeFam:
Gene Tree for GAD1 (if available)

Paralogs for GAD1 Gene

Paralogs for GAD1 Gene

Pseudogenes.org 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 Sequence Context AA Info Type
rs121918345 Cerebral palsy, spastic quadriplegic 1 (CPSQ1) [MIM:603513], Pathogenic 170,818,626(+) AACCT(C/G)CTCGA reference, missense
rs10179059 -- 170,823,409(+) CCTCC(C/T)TGCAT intron-variant
rs10191129 -- 170,832,083(+) TAAAT(C/G)CTGCC intron-variant
rs10439259 -- 170,859,610(+) TGTCA(A/G)TGTAA intron-variant
rs1049730 -- 170,816,985(+) GCCGA(A/G)CGGAT intron-variant, upstream-variant-2KB, utr-variant-5-prime

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)

Relevant External Links for GAD1 Gene

Human Gene Mutation Database (HGMD)
GAD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GAD1

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

Disorders for GAD1 Gene

MalaCards: The human disease database

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

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

UniProtKB/Swiss-Prot

DCE1_HUMAN
  • 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.

Relevant External Links for GAD1

Genetic Association Database (GAD)
GAD1
Human Genome Epidemiology (HuGE) Navigator
GAD1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GAD1
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 D.-F. … Tobin A.J. (Proc. Natl. Acad. Sci. U.S.A. 1992) 2 3 4 22 64
  2. A population-based association study of glutamate decarboxylase 1 as a candidate gene for autism. (PMID: 19139806) ButtenschA … Mors O. (J Neural Transm 2009) 3 22 46 64
  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 P.H. … Riley B.P. (Drug Alcohol Depend 2009) 3 22 46 64
  4. Comprehensive analysis of polymorphisms throughout GAD1 gene: a family-based association study in schizophrenia. (PMID: 18335162) Du J. … He L. (J Neural Transm 2008) 3 22 46 64
  5. GABA production by glutamic acid decarboxylase is regulated by a dynamic catalytic loop. (PMID: 17384644) Fenalti G. … Whisstock J.C. (Nat. Struct. Mol. Biol. 2007) 3 4 22 64

Products for GAD1 Gene

Sources for GAD1 Gene

Content
Loading form....