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Aliases for GAD1 Gene

Aliases for GAD1 Gene

  • 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 63
  • GAD-67 3 4
  • CPSQ1 3 6
  • SCP 3 6
  • GAD 3 4
  • Glutamate Decarboxylase 1 (Brain, 67kD) 2
  • Glutamate Decarboxylase 1 3
  • EC 4.1.1 63
  • GAD67 4

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 (Brain, 67kDa)) 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 Metabolism 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 DDC.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GAD1 Gene

Start:
170,813,213 bp from pter
End:
170,861,151 bp from pter
Size:
47,939 bases
Orientation:
Plus strand

Genomic View for GAD1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for GAD1 Gene at MOPED

Post-translational modifications for GAD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for GAD1 (GAD67)

Domains 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 :
  • Q99259
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 --
GO:0016831 carboxy-lyase activity --
genes like me logo Genes that share ontologies with GAD1: view
genes like me logo Genes that share phenotypes with GAD1: view

Animal Models for GAD1 Gene

MGI Knock Outs for GAD1:

Animal Model Products

CRISPR Products

No data available for miRNA , Transcription Factor Targeting 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 4
cytosol 3
cytoskeleton 2
nucleus 2
extracellular 1
golgi apparatus 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: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 for GAD1 Gene

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

Pathways by source for GAD1 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for GAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006520 cellular amino acid metabolic process --
GO:0006538 glutamate catabolic process TAS 10671565
GO:0006540 glutamate decarboxylation to succinate TAS 1549570
GO:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion TAS --
genes like me logo Genes that share ontologies with GAD1: view

Compounds for GAD1 Gene

(12) HMDB Compounds for GAD1 Gene

Compound Synonyms Cas Number PubMed IDs
3-Sulfinoalanine
  • 3-Sulphino-L-alanine
1115-65-7
Beta-Alanine
  • 2-Carboxyethylamine
107-95-9
Carbon dioxide
  • Carbon oxide
124-38-9
Cysteic acid
  • 2-Amino-3-sulfopropionate
498-40-8
Famotidine
  • Amfamox
76824-35-6

(1) Drugbank Compounds for GAD1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Pyridoxal Phosphate
  • Codecarboxylase
54-47-7 target cofactor

(69) Novoseek inferred chemical compound relationships for GAD1 Gene

Compound -log(P) Hits PubMed IDs
glutamate 92.6 143
gaba 88 207
c-peptide 70.8 10
pyridoxal 5-phosphate 65.9 38
succinic semialdehyde 65.6 6
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:

CRISPR Products

Primer 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) (6.5), Brain - Hypothalamus (5.9), Brain - Nucleus accumbens (basal ganglia) (5.3), Brain - Frontal Cortex (BA9) (5.0), Brain - Putamen (basal ganglia) (4.9), and Brain - Caudate (basal ganglia) (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GAD1 Gene

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 expressions with GAD1: view

In Situ Assay 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 35
  • 99.44 (n)
  • 99.49 (a)
GAD1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GAD1 35
  • 92.71 (n)
  • 97.93 (a)
GAD1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GAD1 35
  • 93.71 (n)
  • 98.15 (a)
GAD1 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gad1 35
  • 91.62 (n)
  • 97.42 (a)
Gad1 16
Gad1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GAD1 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GAD1 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gad1 35
  • 91.11 (n)
  • 97.42 (a)
chicken
(Gallus gallus)
Aves GAD1 35
  • 83.48 (n)
  • 93.12 (a)
GAD67 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GAD1 36
  • 92 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia gad1-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia gad1 35
  • 78.86 (n)
  • 89.6 (a)
Str.6300 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13444 35
zebrafish
(Danio rerio)
Actinopterygii gad1 35
gad1a 36
  • 80 (a)
OneToMany
gad1b 36
  • 80 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005866 35
  • 60.43 (n)
  • 56.71 (a)
fruit fly
(Drosophila melanogaster)
Insecta Gad1 35
  • 61.29 (n)
  • 58.78 (a)
Gad1 36
  • 57 (a)
OneToMany
Gad1 37
  • 57 (a)
b 37
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-25 35
  • 58.05 (n)
  • 56.11 (a)
unc-25 36
  • 56 (a)
OneToMany
unc-25 37
  • 56 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU06112 35
  • 47.11 (n)
  • 37.29 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6607 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.19 36
  • 59 (a)
OneToMany
Species with no ortholog for GAD1:
  • 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

Selected SIMAP similar genes for GAD1 Gene using alignment to 9 proteins:

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 MAF
rs701491 -- 170,846,075(+) ACTCC(A/G)TGGTG intron-variant
rs701492 -- 170,845,970(+) ATTGA(C/T)TCTTC intron-variant
rs769389 -- 170,836,953(+) TTCAG(G/T)CCCAG intron-variant
rs769390 -- 170,836,945(+) TTTAA(A/C)AGTTC intron-variant
rs769391 -- 170,852,920(+) AGACT(A/G)CTGCT intron-variant

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

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

Relevant External Links for GAD1 Gene

HapMap Linkage Disequilibrium report
GAD1
Human Gene Mutation Database (HGMD)
GAD1

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

Disorders for GAD1 Gene

(1) OMIM Diseases for GAD1 Gene (605363)

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.

(4) University of Copenhagen DISEASES for GAD1 Gene

(76) Novoseek inferred disease relationships for GAD1 Gene

Disease -log(P) Hits PubMed IDs
stiff-man syndrome 94.2 52
diabetes mellitus insulin-dependent 86 100
diabetes autoimmune 75.9 5
autoimmunity 74 57
autoimmune diseases 61.3 25

Relevant External Links for GAD1

Genetic Association Database (GAD)
GAD1
Human Genome Epidemiology (HuGE) Navigator
GAD1
genes like me logo Genes that share disorders with GAD1: view

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 23
  2. Nucleotide sequence and chromosomal assignment of a cDNA encoding the large isoform of human glutamate decarboxylase. (PMID: 1339255) Kelly C.D. … Carter N.D. (Ann. Hum. Genet. 1992) 3 4 23
  3. Expression of the neurotransmitter-synthesizing enzyme glutamic acid decarboxylase in male germ cells. (PMID: 1697032) Persson H. … Ritzen E.M. (Mol. Cell. Biol. 1990) 3 4 23
  4. Cloning and partial nucleotide sequence of human glutamic acid decarboxylase cDNA from brain and pancreatic islets. (PMID: 2039509) Cram D.S. … Harrison L.C. (Biochem. Biophys. Res. Commun. 1991) 3 4 23
  5. The exon-intron organization of the genes (GAD1 and GAD2) encoding two human glutamate decarboxylases (GAD67 and GAD65) suggests that they derive from a common ancestral GAD. (PMID: 8088791) Bu D.-F. … Tobin A.J. (Genomics 1994) 3 4 23

Products for GAD1 Gene

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