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Aliases & Descriptions for GAD1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases EC 4.1.1.15 3 FLJ45882 2 GAD 2 , 3 GAD-67 3 GAD67 3 OTTHUMP00000041055 2 SCP 2 , 5
Descriptions 67 kDa glutamic acid decarboxylase 3 Glutamate decarboxylase 67 kDa isoform 3 glutamate decarboxylase 1 2 glutamate decarboxylase 1 (brain, 67kD) 1 , 2 glutamate decarboxylase 1 (brain, 67kDa) 2
Search outside databases for aliases for GAD1 genePrevious GC identifers: GC02P169724 GC02P170214 GC02P171637 GC02P171875 GC02P171498
Summaries for GAD1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for GAD1 : This gene encodes one of several forms of glutamic acid decarboxylase, identified as a majorautoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing theproduction of gamma-aminobutyric acid from L-glutamic acid. A pathogenic role for this enzyme hasbeen identified in the human pancreas since it has been identified as an autoantigen and anautoreactive T cell target in insulin-dependent diabetes. This gene may also play a role in thestiff man syndrome. Deficiency in this enzyme has been shown to lead to pyridoxine dependency withseizures. Alternative splicing of this gene results in two products, the predominant 67-kD formand a less-frequent 25-kD form. [provided by RefSeq] UniProtKB/Swiss-Prot: DCE1_HUMAN, Q99259 Function : Catalyzes the production of GABA
Gene Wiki entry for GAD1
Genomic Location for GAD1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the GAD1 gene 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) GeneLoc gene densities for chromosome 2 GeneLoc Exon Structure
GeneLoc location for GC02P171381:
(about GC identifiers )
Start:
171,381,446 bp from pter
End:
171,425,907 bp from pter
Size:
44,462 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000002.10 NT_005403.16 Proteins for GAD1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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
PDB structures from and Proteopedia : 2OKJ (3D)
 
Secondary accessions : Q9BU91 Q9UHH4Alternative splicing : 3 isoforms : Q99259-1 Q99259-2 Q99259-3
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_000808.2 NP_038473.2 ENSEMBL proteins: ENSP00000350928 ENSP00000364422 ENSP00000364421 ENSP00000341167 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: GAD1 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for GAD1: Assays for GAD1:
Protein
Domains/ Families for GAD1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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
Gene Function for GAD1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_013445 Applied Biosystems Silencer ® siRNAs for GAD1 Sigma-Aldrich siRNA and siRNA Panels for GAD1 Sigma-Aldrich shRNA for GAD1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000817                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000817                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_000817  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000817 UniProtKB/Swiss-Prot: DCE1_HUMAN, Q99259 Function : Catalyzes the production of GABACatalytic activity : L-glutamate = 4-aminobutanoate + CO(2)Enzyme Number (IUBMB): EC 4.1.1.15
Genatlas biochemistry entry for GAD1 :glutamate decarboxylase 1,brain,67kDa,extramitochondrial,GABA formation,autoantigen in stiff mansyndrome,in women affected by breast cancer
14 MGI mutant phenotypes (inferred from 8 alleles ) (MGI details for Gad1) :4 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for GAD1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/7 Sigma-Aldrich "Your Favorite Gene" Pathways for GAD1 (Your Favorite Gene powered by Ingenuity) (see all 7
) 5/83 Interacting proteins for GAD1 (Q99259 1 ENSP00000350928 3 ) via UniProtKB, MINT, and/or STRING (see all 83
)About this table 5 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for GAD1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Sigma-Aldrich Small Molecules for GAD1:Inhibitor
Browse Tocris compounds for GAD1 10/32 Novoseek chemical compound relationships for GAD1 gene (see all 32
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
c-peptide
71.41
12
9781622 (1), 9838990 (1), 12017227 (1), 11372396 (1) (see all 10 )
succinic semialdehyde
63.88
5
18846220 (1), 15642443 (1), 8920949 (1), 7584821 (1) (see all 5 )
cysteine sulfinic acid
53.12
4
8912862 (1), 15070923 (1), 18047830 (1)
tyrosine
42.05
38
9670839 (2), 9703171 (1), 11095106 (1), 11113579 (1) (see all 36 )
atpa
32.57
2
11602227 (1), 15450782 (1)
quinolinic acid
27.32
2
9171158 (2)
glucose
18.31
21
1464667 (3), 11980365 (2), 8504767 (1), 10663218 (1) (see all 12 )
oligonucleotide
5.54
2
8744244 (1)
potassium
4.99
8
16344514 (1), 16870397 (1), 17918010 (1), 19356697 (1) (see all 7 )
hydrogen
2.09
1
15932974 (1)
About this table
Transcripts for GAD1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_013445 Sigma-Aldrich siRNA and siRNA Panels for GAD1 Sigma-Aldrich shRNA for GAD1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000817 NM_013445
REFSEQ mRNAs for GAD1 gene (2 alternative transcripts): NM_000817.2 NM_013445.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000817 NM_013445
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000817                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000817                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_000817  
Additional cDNA 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
20 DOTS entries : DT.97795578 DT.315676 DT.91772737 DT.121034970 DT.315677 DT.95295417 DT.101979988 DT.121034960 DT.95250497 DT.121034934 DT.101956985 DT.121034931 DT.121034969 DT.95255621 DT.121034936 DT.121034946 DT.92421576 DT.95366425 DT.99940654 DT.95219160
24/92 AceView cDNA sequences (see all 92
):AA211056 F09215 F11556 AI391572 F06039 BU730934 BM662447 BG427770 AI087804 F03699 BC002815 CD013939 AI362721 BC036552 BM708589 N50036 NM_000817 AI955485 AA774161 AA885472 N48810 T28811 AA322463 BI599082
highest scoring ESTs for GAD1 :M81883 AA018457 AA018504 AA211056 AA774161 AA885472 AA890623 AI087804 AI362721 AI459724
Unigene Cluster for GAD1: Glutamate decarboxylase 1 (brain, 67kDa) Hs.420036 [show with all ESTs ] Unigene Representative Sequence: BC036552 GeneLoc Exon Structure 5/13 Alternative Splicing Database (ASD) splice patterns (SP) for GAD1 (see all 13
) 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 : -   -                      
About this scheme ECgene alternative splicing isoforms for GAD1 4 Ensembl transcripts including schematic representations : ENST00000358196
ENST00000375273
ENST00000375272
ENST00000344257
Expression for GAD1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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GAD1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for GAD1 1 / 2 / 3
8 probe-sets matching GAD1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GAGAATTTGASOURCE GeneReport for Unigene cluster: Hs.420036 Expression variation in blood from EXPOLDB for GAD1
UniProtKB/Swiss-Prot: DCE1_HUMAN, Q99259 Tissue specificity : Isoform 3 is expressed in pancreatic islets, testis, adrenal cortex, andperhaps other endocrine tissues, but not in brain
Orthologs for GAD1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for GAD1 gene from 5/16 species (see all 16
)
About this table Species with no ortholog for GAD1 ENSEMBL Gene Tree for GAD1 Paralogs for GAD1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for GAD1 gene GADL1 2 CSAD 2 GAD2 2
SNPs/Variants for GAD1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for GAD1 (up to first 250kb)
Disorders & Mutations for GAD1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 605363 disorders : 603513 UniProtKB/Swiss-Prot: DCE1_HUMAN, Q99259
Defects in GAD1 are the cause of autosomal recessive symmetric spastic cerebral palsy(SCP) [MIM:603513]. Cerebral palsy (CP) is an heterogeneous group of neurological disorders ofmovement and/or posture, with an estimated incidence of 1 in 250 to 1'000 live births, making CPone the commonest congenital disabilities. Non-progressive forms of symmetrical, spastic CP havebeen identified, which show a Mendelian autosomal recessive pattern of inheritance. Patientspresent developmental delay, mental retardation and sometimes epilepsy as part of the phenotype
10/76 Novoseek disease relationships for GAD1 gene (see all 76
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
stiff-man syndrome
93.89
54
15210535 (3), 2135382 (2), 7505244 (2), 8904930 (2) (see all 42 )
diabetes mellitus insulin-dependent
86.06
104
8904930 (3), 2135382 (2), 7578849 (2), 1812896 (2) (see all 92 )
diabetes autoimmune
75.27
7
12530520 (2), 9609368 (1), 12515288 (1), 19046207 (1)
autoimmunity
74.46
68
7926297 (4), 10588452 (2), 15111674 (2), 7532577 (2) (see all 45 )
autoimmune diseases
61.20
28
2135382 (1), 7578849 (1), 9054945 (1), 10594551 (1) (see all 25 )
autoimmune response
59.12
17
8816970 (1), 7840855 (1), 8245784 (1), 8579720 (1) (see all 12 )
schizophrenia
55.90
92
16513879 (7), 18335162 (6), 15114630 (5), 15806582 (4) (see all 35 )
diabetic ketoacidosis
52.41
2
8194658 (1), 11161135 (1)
coxsackie virus
51.05
1
15620115 (1)
neurological disorders
50.34
11
17579580 (2), 8979623 (1), 18514483 (1), 8004482 (1) (see all 9 )
About this table Human Gene Mutation Database : GAD1 Genetic Association Database: GAD1 Human Genome Epidemiology Navigator: GAD1 (16 documents)
Medical News for GAD1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for GAD1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/532 PubMed articles for GAD1 gene (see all 532
): Two human glutamate decarboxylases, 65-kDa GAD and 67-kDa GAD, are each encoded by a single gene. (PubMed id 1549570) 1, 2, 3, 4 Bu D.-F.... Tobin A.J. (1992) 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, 3, 4 Bu D.-F. and Tobin A.J. (1994) Expression of the neurotransmitter-synthesizing enzyme glutamic acid decarboxylase in male germ cells. (PubMed id 1697032) 1, 3, 4 Persson H.... Ritzen E.M. (1990) Nucleotide sequence and chromosomal assignment of a cDNA encoding the large isoform of human glutamate decarboxylase. (PubMed id 1339255) 1, 3, 4 Kelly C.D.... Carter N.D. (1992) Molecular cloning of full-length glutamic acid decarboxylase 67 from human pancreas and islets. (PubMed id 8507202) 1, 3, 4 Yamashita K.... Harrison L.C. (1993) Polymorphisms in glutamate decarboxylase genes: analysis in schizophrenia. (PubMed id 15091314) 1, 3, 6 De Luca V....Kennedy J.L. (2004) GABA production by glutamic acid decarboxylase is regulated by a dynamic catalytic loop. (PubMed id 17384644) 1, 3, 4 Fenalti G....Whisstock J.C. (2007) Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. (PubMed id 15571623) 1, 3, 4 Lynex C.N.... Markham A.F. (2004) Mutation screen of the glutamate decarboxylase-67 gene and haplotype association to unipolar depression. (PubMed id 14681921) 1, 3, 6 Lappalainen J....Gelernter J. (2004) Cloning and expression of large isoform of glutamic acid decarboxylase from human pancreatic islet. (PubMed id 8507203) 1, 3, 4 Kawasaki E.... Miyamoto T. (1993)
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Genome Databases showing GAD1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing GAD1
(According to HUGE )
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Specialized Databases showing GAD1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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Name Description
NIEHS-SNPs http://egp.gs.washington.edu/data/gad1/ Wikipedia http://en.wikipedia.org/wiki/Glutamate_decarboxylase
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-- Services for GAD1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for GAD1:
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009