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GAD1 Gene

protein-coding   GIFtS: 69
GCID: GC02P171669

Glutamate Decarboxylase 1 (Brain, 67kDa)

(Previous names: glutamate decarboxylase 1 (brain, 67kD))
(Previous symbol: GAD)
  See GAD1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glutamate Decarboxylase 1 (Brain, 67kDa)1 2     CPSQ12 5
GAD1 2 3     SCP2 5
Glutamate Decarboxylase 67 KDa Isoform2 3     Glutamate Decarboxylase 1 (Brain, 67kD)1
67 KDa Glutamic Acid Decarboxylase2 3     Glutamate Decarboxylase 12
GAD-672 3     GAD673
EC 4.1.1.153 8     EC 4.1.18

External Ids:    HGNC: 40921   Entrez Gene: 25712   Ensembl: ENSG000001286837   OMIM: 6053635   UniProtKB: Q992593   

Export aliases for GAD1 gene to outside databases

Previous GC identifers: GC02P169724 GC02P170214 GC02P171637 GC02P171875 GC02P171498 GC02P171381 GC02P163562


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 spastic cerebral palsy, and cerebral palsy, spastic quadriplegic, 1. GO annotations related to this gene include pyridoxal phosphate binding and protein heterodimerization activity. An important paralog of this gene is DDC.

UniProtKB/Swiss-Prot: DCE1_HUMAN, Q99259
Function: Catalyzes the production of GABA

Gene Wiki entry for GAD1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GAD1 gene promoter:
         Pax-5   AP-1   HOXA5   ATF-2   c-Jun   AP-2gamma   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGAD1 promoter sequence
   Search Chromatin IP Primers for GAD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GAD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q31   Ensembl cytogenetic band:  2q31.1   HGNC cytogenetic band: 2q31

GAD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GAD1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P171669:  view genomic region     (about GC identifiers)

Start:
171,669,723 bp from pter      End:
171,717,661 bp from pter
Size:
47,939 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DCE1_HUMAN, Q99259 (See protein sequence)
Recommended Name: Glutamate decarboxylase 1  
Size: 594 amino acids; 66897 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer
2 PDB 3D structures from and Proteopedia for GAD1:
2OKJ (3D)        3VP6 (3D)    
Secondary accessions: Q53TQ7 Q9BU91 Q9UHH4
Alternative splicing: 3 isoforms:  Q99259-1   Q99259-2   Q99259-3   (Lacks enzymatic activity)

Explore the universe of human proteins at neXtProt for GAD1: NX_Q99259

Explore proteomics data for GAD1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GAD1 (Q99259) (see all 20)
     SYDTGDK  EIADICE  KVLDFHHP  HPRFFNQL 


    See GAD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000808.2  NP_038473.2  

    ENSEMBL proteins: 
     ENSP00000402366   ENSP00000394948   ENSP00000350928   ENSP00000341167   ENSP00000403849  
     ENSP00000405917   ENSP00000394255   ENSP00000434696   ENSP00000476147   ENSP00000364421  
    Reactome Protein details: Q99259

    GAD1 Human Recombinant Protein Products:

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    Novus Biologicals GAD1 Proteins
    Novus Biologicals GAD1 Lysates
    Sino Biological Recombinant Protein for GAD1
    Sino Biological Cell Lysate for GAD1
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GAD1

     
    Search eBioscience for Proteins for GAD1 

     
    antibodies-online proteins for GAD1 (9 products) 

     
    antibodies-online peptides for GAD1

    GAD1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of GAD1
    R&D Systems Antibodies for GAD1 (GAD1/GAD67)
    Cell Signaling Technology (CST) Antibodies for GAD1  (GAD67)
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    Novus Biologicals GAD1 Antibodies
    Abcam antibodies for GAD1 (Q05329, Q99259)
    Cloud-Clone Corp. Antibodies for GAD1
    ThermoFisher Antibody for GAD1
    antibodies-online antibodies for GAD1 (113 products) 

    GAD1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GAD1
    Cloud-Clone Corp. CLIAs for GAD1
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    antibodies-online kits for GAD1 (22 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: Glutamic acid decarboxylase 1
    Decarboxylases

    5 InterPro protein domains:
     IPR002129 PyrdxlP-dep_de-COase
     IPR021115 Pyridoxal-P_BS
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR015424 PyrdxlP-dep_Trfase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1

    Graphical View of Domain Structure for InterPro Entry Q99259

    ProtoNet protein and cluster: Q99259

    UniProtKB/Swiss-Prot: DCE1_HUMAN, Q99259
    Similarity: Belongs to the group II decarboxylase family


    Find genes that share domains with GAD1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DCE1_HUMAN, Q99259
    Function: Catalyzes the production of GABA
    Catalytic activity: L-glutamate = 4-aminobutanoate + CO(2)

         Genatlas biochemistry entry for GAD1:
    glutamate decarboxylase 1,brain,67kDa,extramitochondrial,GABA formation,autoantigen in stiff man syndrome,in women
    affected by breast cancer

         Enzyme Numbers (IUBMB): EC 4.1.1.151 2 EC 4.1.12

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004351glutamate decarboxylase activity IDA10671565
    GO:0005515protein binding IPI10671565
    GO:0016595glutamate binding IEA--
    GO:0016829lyase activity ----
    GO:0016831carboxy-lyase activity ----
         
    Find genes that share ontologies with GAD1           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 13 alleles(MGI details for Gad1) (see all 16):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  limbs/digits/tail  mortality/aging 
     nervous system  no phenotypic analysis  normal  respiratory system  skeleton 

    Find genes that share phenotypes with GAD1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for GAD1: Gad1tm1Mrc Gad1tm1.1Rpa

       genOway: Develop your customized and physiologically relevant rodent model for GAD1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat GAD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GAD1 (see all 13):
    hsa-miR-323-3p hsa-miR-520d-5p hsa-miR-300 hsa-miR-381 hsa-miR-181c* hsa-miR-410 hsa-miR-146a* hsa-miR-659
    SwitchGear 3'UTR luciferase reporter plasmidGAD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GAD1
    Predesigned siRNA for gene silencing in human, mouse, rat GAD1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GAD1

    Clone
    Products:
         
    OriGene clones in human, mouse for GAD1 (see all 13)
    OriGene ORF clones in mouse, rat for GAD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GAD1 (NM_013445)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GAD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GAD1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for GAD1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAD1

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-11072) for GAD1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol3
    cytoskeleton2
    nucleus2
    extracellular1
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA10671565
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--
    GO:0005886plasma membrane TAS--
    GO:0005938cell cortex IEA--

    Find genes that share ontologies with GAD1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GAD1 About   (see all 15)  
    See pathways by source

    SuperPathContained pathways About
    1GABA signaling in brain
    Synaptic Neurotransmission: GABAergic Inhibition0.32
    GABA signaling in brain0.32
    2Beta alanine metabolism
    Beta alanine metabolism
    GABA synthesis0.00
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    4Neurotransmitter Release Cycle
    Neurotransmitter Release Cycle0.32
    GABA synthesis, release, reuptake and degradation0.00
    5Allograft rejection
    Type I diabetes mellitus0.69


    Find genes that share SuperPaths with GAD1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for GAD1
        Synaptic Neurotransmission: GABAergic Inhibition


    1 Cell Signaling Technology (CST) Pathway for GAD1
        Neuroscience

    1 GeneGo (Thomson Reuters) Pathway for GAD1
        Beta-alanine metabolism

    2 BioSystems Pathways for GAD1
        Biogenic Amine Synthesis
    Alanine and aspartate metabolism


    2 Reactome Pathways for GAD1
        GABA synthesis, release, reuptake and degradation
    GABA synthesis


    Selected Kegg Pathways  (Kegg details for GAD1) (see all 7):
        Alanine, aspartate and glutamate metabolism
    beta-Alanine metabolism
    Taurine and hypotaurine metabolism
    Butanoate metabolism
    Metabolic pathways

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GAD1: 
              Cell Lineage Identification in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              GABA & Glutamate in human mouse rat
              Drug Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GAD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GAD1 (Q992591, 2, 3 ENSP000003509284) via UniProtKB, MINT, STRING, and/or I2D (see all 71)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-8110215 I2D: score=3 STRING: ENSP00000361423
    NCK1P163331, 3, ENSP000002889864EBI-743184,EBI-389883 I2D: score=2 STRING: ENSP00000288986
    FYNP062413, ENSP000003576564I2D: score=2 STRING: ENSP00000357656
    PRKCEQ021563, ENSP000003061244I2D: score=2 STRING: ENSP00000306124
    JUNP054123, ENSP000003602664I2D: score=1 STRING: ENSP00000360266
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006520cellular amino acid metabolic process ----
    GO:0006538glutamate catabolic process TAS10671565
    GO:0006540glutamate decarboxylation to succinate TAS1549570
    GO:0007268synaptic transmission TAS--
    GO:0007269neurotransmitter secretion TAS--

    Find genes that share ontologies with GAD1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GAD1 (DCE1)

    Selected HMDB Compounds for GAD1 (see all 12)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Sulfinoalanine3-Sulphino-L-alanine (see all 9)1115-65-7--
    Beta-Alanine2-Carboxyethylamine (see all 21)107-95-9--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Cysteic acid2-Amino-3-sulfopropionate (see all 19)498-40-8--
    FamotidineAmfamox (see all 83)76824-35-6--
    Gamma-Aminobutyric acid3-Carboxypropylamine (see all 27)56-12-2--
    Hypotaurine2-Aminoethylsulfinate (see all 9)300-84-5--
    L-Aspartic acid(+)-Aspartate (see all 41)56-84-8--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    1 DrugBank Compound for GAD1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor8499653 17139284 16075246 17016423 10978228

    Selected Novoseek inferred chemical compound relationships for GAD1 gene (see all 69)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 92.6 860 1973454 (5), 11563513 (3), 8243826 (2), 8979623 (2) (see all 99)
    gaba 88 592 20010500 (6), 17362888 (6), 11144533 (6), 8034788 (5) (see all 99)
    c-peptide 70.8 12 9781622 (1), 9838990 (1), 12017227 (1), 11372396 (1) (see all 10)
    pyridoxal 5-phosphate 65.9 71 12535612 (8), 15686475 (3), 1956876 (3), 1973454 (3) (see all 21)
    succinic semialdehyde 65.6 6 18846220 (1), 19576596 (1), 15642443 (1), 8920949 (1) (see all 6)
    imidazenil 53.2 1 15864560 (1)
    cysteine sulfinic acid 51.8 4 8912862 (1), 15070923 (1), 18047830 (1)
    mptp 45 31 9266773 (5), 7931578 (5), 8618687 (4), 7582093 (3) (see all 9)
    tyrosine 41.6 38 9670839 (2), 9703171 (1), 11095106 (1), 11113579 (1) (see all 36)
    nmda 34.1 12 16452684 (3), 8928614 (1), 16738232 (1), 16705673 (1) (see all 8)



    Find genes that share compounds with GAD1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GAD1 gene (2 alternative transcripts): 
    NM_000817.2  NM_013445.3  

    Unigene Cluster for GAD1:

    Glutamate decarboxylase 1 (brain, 67kDa)
    Hs.420036  [show with all ESTs]
    Unigene Representative Sequence: BC036552
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000454603 ENST00000445006 ENST00000358196(uc002ugi.3 uc010fqc.3)
    ENST00000344257 ENST00000414527 ENST00000455008 ENST00000456864 ENST00000493875
    ENST00000429023 ENST00000485013 ENST00000486850 ENST00000493270 ENST00000462739
    ENST00000488724 ENST00000478562 ENST00000375272(uc002ugh.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate GAD1 (see all 13):
    hsa-miR-323-3p hsa-miR-520d-5p hsa-miR-300 hsa-miR-381 hsa-miR-181c* hsa-miR-410 hsa-miR-146a* hsa-miR-659
    SwitchGear 3'UTR luciferase reporter plasmidGAD1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GAD1
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): GAD1 (NM_013445)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GAD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GAD1
    Primer
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    OriGene qPCR primer pairs and template standards for GAD1
    OriGene qSTAR qPCR primer pairs in human, mouse for GAD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GAD1
      QuantiTect SYBR Green Assays in human, mouse, rat GAD1
      QuantiFast Probe-based Assays in human, mouse, rat GAD1
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-11072) for GAD1 

    Additional mRNA sequence: 

    AF178853.2 AK123534.1 AK127781.1 AK292582.1 AK307460.1 BC002815.2 BC026349.1 BC036552.1 
    BC037780.2 L16888.1 M55574.1 M70434.1 M70435.1 M81883.1 S61897.1 S61898.1 
    Z22750.1 

    24 DOTS entries:

    DT.97795578  DT.92027023  DT.91772737  DT.315676  DT.121034934  DT.121034970  DT.315677  DT.95295417 
    DT.121034960  DT.101979988  DT.95250497  DT.121645527  DT.121034931  DT.121645522  DT.101956985  DT.121034969 
    DT.95255621  DT.121034936  DT.121034946  DT.92027033  DT.92421576  DT.95366425  DT.99940654  DT.95219160 

    Selected AceView cDNA sequences (see all 92):

    BM662447 BU730934 AI087804 AI391572 BG427770 F09215 F11556 CD013939 
    AI362721 F03699 F06039 AA211056 BC002815 NM_000817 AI953175 CK003747 
    BI523283 M81883 BC036552 NM_013445 AK127781 F07473 AA774161 CD652302 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GAD1 (see all 13)    About this scheme

    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:                                                                                                                                -                           

    ExUns: 16 ^ 17a · 17b · 17c ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b · 22c
    SP1:  -     -                 -                                             
    SP2:        -                 -                                             
    SP3:  -     -                 -                                             
    SP4:                                                                        
    SP5:  -     -                                                               


    ECgene alternative splicing isoforms for GAD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    GAD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAATTTGA
    GAD1 Expression
    About this image


    GAD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Neurons
             Dopaminergic Amacrine Cells Inner Nuclear Layer
             Forebrain GABA neurons
     
     Eye (Sensory Organs)    fully expand to see all 10 entries
             Dopaminergic Amacrine Cells Inner Nuclear Layer
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
             Thalamus
             Forebrain GABA neurons
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Telencephalon
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             hIPS1
    GAD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GAD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.420036

    UniProtKB/Swiss-Prot: DCE1_HUMAN, Q99259
    Tissue specificity: Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, and perhaps other
    endocrine tissues, but not in brain

        Pathway & Disease-focused RT2 Profiler PCR Arrays including GAD1: 
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              GABA & Glutamate in human mouse rat
              Drug Metabolism in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of animals.

    Orthologs for GAD1 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gad11 , 5 glutamic acid decarboxylase 15
    glutamate decarboxylase 11
    91.62(n)1
    97.42(a)1
      2 (41.63 cM)5
    144151  NM_008077.41  NP_032103.21 
     705530725 
    chicken
    (Gallus gallus)
    Aves GAD11 glutamate decarboxylase 1 (brain, 67kDa) 83.48(n)
    93.12(a)
      395743  NM_204913.1  NP_990244.1 
    lizard
    (Anolis carolinensis)
    Reptilia GAD16
    glutamate decarboxylase 1 (brain, 67kDa)
    92(a)
    1 ↔ 1
    GL343353.1(1119943-1169628)
    African clawed frog
    (Xenopus laevis)
    Amphibia gad1-A2 glutamate decarboxylase 1 (brain, 67kDa) 78.28(n)    U38225.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gad12 glutamate decarboxylase 1 77.2(n)   378441  BC047851.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gad11 , 3 larval locomotory behavior glutamate
    decarboxylase3
    Glutamic acid decarboxylase 11
    57(a)
    (best of 2)3
    61.29(n)1
    58.78(a)1
      64A53
    384841  NM_168056.21  NP_728931.11 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-251 , 3 Pyridoxal-dependent decarboxylase
    conserved domain3
    unc-251
    56(a)3
    58.05(n)1
    56.11(a)1
      III(13013945-13020998)3
    1767131  NM_067288.41  NP_499689.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GAD1 gene
    DDC2  GADL12  HDC2  GAD22  CSAD2  
    5 SIMAP similar genes for GAD1 using alignment to 9 protein entries:     DCE1_HUMAN (see all proteins):
    GAD65    pcap    GAD2    GADL1    CSAD

    Find genes that share paralogs with GAD1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for GAD1
    PGOHUM00000259285


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GAD1 (see all 1078)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0310214
    Cerebral palsy, spastic quadriplegic 1 (CPSQ1)4--see VAR_0310212 S C mis40--------
    rs1478947811,2
    C--171065470(+) CCCCT-/ACTC  
            
    ACCAT
    2 -- us2k10--------
    rs1856496001,2
    --171065533(+) CTTGCG/TTTACC 2 -- us2k10--------
    rs1905575501,2
    --171065560(+) TCCTTC/TTCCAA 2 -- us2k10--------
    rs763302781,2
    --171065567(+) CCAACA/GAGATT 2 -- us2k10--------
    rs37625581,2
    C,F--171065595(-) ACACCC/TCTAAC 2 -- us2k13Minor allele frequency- T:0.13NS WA EA 418
    rs1817124261,2
    --171065709(+) AAAAGA/GTTGAG 2 -- us2k10--------
    rs455930351,2
    C,F--171065734(+) ATGCTG/AGACAA 2 -- us2k12Minor allele frequency- A:0.04NS NA 298
    rs1860615451,2
    --171065777(+) CTCCTC/TCTTCC 2 -- us2k10--------
    rs1484507841,2
    --171065837(+) CCTGAC/TTGGTG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for GAD1 (171669723 - 171717661 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for GAD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721126CNV Deletion23290073
    esv2673900CNV Deletion23128226
    esv2721127CNV Deletion23290073
    esv2721125CNV Deletion23290073
    esv2721129CNV Deletion23290073
    nsv508179CNV Loss20534489
    nsv528929CNV Loss19592680

    Human Gene Mutation Database (HGMD): GAD1
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing GAD1
    DNA2.0 Custom Variant and Variant Library Synthesis for GAD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 605363   
    OMIM disorders: 603513  
    UniProtKB/Swiss-Prot: DCE1_HUMAN, Q99259
  • 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 19 diseases for GAD1:    
    About MalaCards
    spastic cerebral palsy    cerebral palsy, spastic quadriplegic, 1    peripheral vertigo    west nile fever
    limbic encephalitis    conversion disorder    pyridoxine-dependent epilepsy    macrocephaly/autism syndrome
    rasmussen encephalitis    childhood-onset schizophrenia    diabetic ketoacidosis    stiff-person syndrome
    status epilepticus    cerebral palsy    maternally inherited diabetes and deafness    encephalitis
    type 1 diabetes mellitus    diabetic retinopathy    schizophrenia

    4 diseases from the University of Copenhagen DISEASES database for GAD1:
    Schizophrenia     Stiff-Person syndrome     Diabetes mellitus     Autistic disorder

    Find genes that share disorders with GAD1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for GAD1 gene (see all 76)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    stiff-man syndrome 94.2 59 15210535 (3), 2135382 (2), 7505244 (2), 8904930 (2) (see all 47)
    diabetes mellitus insulin-dependent 86 107 8904930 (3), 2135382 (2), 7578849 (2), 1812896 (2) (see all 95)
    diabetes autoimmune 75.9 7 12530520 (2), 9609368 (1), 12515288 (1), 19046207 (1)
    autoimmunity 74 70 7926297 (4), 10588452 (2), 15111674 (2), 19428124 (2) (see all 46)
    autoimmune diseases 61.3 28 2135382 (1), 7578849 (1), 9054945 (1), 10594551 (1) (see all 25)
    autoimmune response 57.7 17 8816970 (1), 7840855 (1), 8245784 (1), 8579720 (1) (see all 12)
    limbic encephalitis 57.5 4 16870397 (1), 18955013 (1), 20035430 (1), 20437582 (1)
    schizophrenia 55.7 93 16513879 (7), 18335162 (6), 15114630 (5), 15806582 (4) (see all 36)
    neurological disorders 52.9 12 17579580 (2), 8979623 (1), 18514483 (1), 8004482 (1) (see all 10)
    diabetic ketoacidosis 51 2 8194658 (1), 11161135 (1)

    Genetic Association Database (GAD): GAD1
    Human Genome Epidemiology (HuGE) Navigator: GAD1 (31 documents)

    Export disorders for GAD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GAD1 gene, integrated from 10 sources (see all 670):
    (articles sorted by number of sources associating them with GAD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Two human glutamate decarboxylases, 65-kDa GAD and 67-kDa GAD, are each encoded by a single gene. (PubMed id 1549570)1, 2, 3, 9 Bu D.-F.... Tobin A.J. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    2. 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. (PubMed id 8088791)1, 2, 9 Bu D.-F. and Tobin A.J. (Genomics 1994)
    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. (PubMed id 19111404)1, 4, 9 Kuo P.H....Riley B.P. (Drug Alcohol Depend 2009)
    4. Allelic variation in GAD1 (GAD67) is associated with schizophrenia and influences cortical function and gene expression. (PubMed id 17767149)1, 4, 9 Straub R.E....Weinberger D.R. (Mol. Psychiatry 2007)
    5. Comprehensive analysis of polymorphisms throughout GAD1 gene: a family-based association study in schizophrenia. (PubMed id 18335162)1, 4, 9 Du J....He L. (J Neural Transm 2008)
    6. Expression of the neurotransmitter-synthesizing enzyme glutamic acid decarboxylase in male germ cells. (PubMed id 1697032)1, 2, 9 Persson H.... Ritzen E.M. (Mol. Cell. Biol. 1990)
    7. Mutational screening and association study of glutamate decarboxylase 1 as a candidate susceptibility gene for bipolar affective disorder and schizophrenia. (PubMed id 15806582)1, 4, 9 Lundorf M.D....Mors O. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2005)
    8. Nucleotide sequence and chromosomal assignment of a cDNA encoding the large isoform of human glutamate decarboxylase. (PubMed id 1339255)1, 2, 9 Kelly C.D.... Carter N.D. (Ann. Hum. Genet. 1992)
    9. Polymorphisms in glutamate decarboxylase genes: analysis in schizophrenia. (PubMed id 15091314)1, 4, 9 De Luca V....Kennedy J.L. (Psychiatr. Genet. 2004)
    10. A population-based association study of glutamate decarboxylase 1 as a candidate gene for autism. (PubMed id 19139806)1, 4, 9 ButtenschA...Mors O. (J Neural Transm 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2571 HGNC: 4092 AceView: GAD1 Ensembl:ENSG00000128683 euGenes: HUgn2571
    ECgene: GAD1 Kegg: 2571 H-InvDB: GAD1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GAD1 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/gad1/
    Wikipedia http://en.wikipedia.org/wiki/Glutamate_decarboxylase

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GAD1 gene:
    Search GeneIP for patents involving GAD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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