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GAD1 (glutamate decarboxylase 1)

Identity

Alias_namesGAD
glutamate decarboxylase 1 (brain, 67kD)
glutamate decarboxylase 1 (brain, 67kDa)
Other aliasCPSQ1
SCP
HGNC (Hugo) GAD1
LocusID (NCBI) 2571
Atlas_Id 53845
Location 2q31.1  [Link to chromosome band 2q31]
Location_base_pair Starts at 170816690 and ends at 170861149 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GAD1 (2q31.1) / ALDOC (17q11.2)GAD1 (2q31.1) / PARD3 (10p11.22)GAD1 (2q31.1) / RUNX1T1 (8q21.3)
IFI27 (14q32.12) / GAD1 (2q31.1)SGSM2 (17p13.3) / GAD1 (2q31.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GAD1   4092
Cards
Entrez_Gene (NCBI)GAD1  2571  glutamate decarboxylase 1
AliasesCPSQ1; GAD; SCP
GeneCards (Weizmann)GAD1
Ensembl hg19 (Hinxton)ENSG00000128683 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128683 [Gene_View]  chr2:170816690-170861149 [Contig_View]  GAD1 [Vega]
ICGC DataPortalENSG00000128683
TCGA cBioPortalGAD1
AceView (NCBI)GAD1
Genatlas (Paris)GAD1
WikiGenes2571
SOURCE (Princeton)GAD1
Genetics Home Reference (NIH)GAD1
Genomic and cartography
GoldenPath hg38 (UCSC)GAD1  -     chr2:170816690-170861149 +  2q31.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GAD1  -     2q31.1   [Description]    (hg19-Feb_2009)
EnsemblGAD1 - 2q31.1 [CytoView hg19]  GAD1 - 2q31.1 [CytoView hg38]
Mapping of homologs : NCBIGAD1 [Mapview hg19]  GAD1 [Mapview hg38]
OMIM603513   605363   
Gene and transcription
Genbank (Entrez)A28074 AF178853 AK127781 AK292582 AK307460
RefSeq transcript (Entrez)NM_000817 NM_013445
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GAD1
Cluster EST : UnigeneHs.420036 [ NCBI ]
CGAP (NCI)Hs.420036
Alternative Splicing GalleryENSG00000128683
Gene ExpressionGAD1 [ NCBI-GEO ]   GAD1 [ EBI - ARRAY_EXPRESS ]   GAD1 [ SEEK ]   GAD1 [ MEM ]
Gene Expression Viewer (FireBrowse)GAD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2571
GTEX Portal (Tissue expression)GAD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99259   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99259  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99259
Splice isoforms : SwissVarQ99259
Catalytic activity : Enzyme4.1.1.15 [ Enzyme-Expasy ]   4.1.1.154.1.1.15 [ IntEnz-EBI ]   4.1.1.15 [ BRENDA ]   4.1.1.15 [ KEGG ]   
PhosPhoSitePlusQ99259
Domaine pattern : Prosite (Expaxy)DDC_GAD_HDC_YDC (PS00392)   
Domains : Interpro (EBI)PyrdxlP-dep_de-COase    PyrdxlP-dep_Trfase    PyrdxlP-dep_Trfase_major_sub1    PyrdxlP-dep_Trfase_major_sub2    Pyridoxal-P_BS   
Domain families : Pfam (Sanger)Pyridoxal_deC (PF00282)   
Domain families : Pfam (NCBI)pfam00282   
Conserved Domain (NCBI)GAD1
DMDM Disease mutations2571
Blocks (Seattle)GAD1
PDB (SRS)2OKJ    3VP6   
PDB (PDBSum)2OKJ    3VP6   
PDB (IMB)2OKJ    3VP6   
PDB (RSDB)2OKJ    3VP6   
Structural Biology KnowledgeBase2OKJ    3VP6   
SCOP (Structural Classification of Proteins)2OKJ    3VP6   
CATH (Classification of proteins structures)2OKJ    3VP6   
SuperfamilyQ99259
Human Protein AtlasENSG00000128683
Peptide AtlasQ99259
HPRD12011
IPIIPI00292646   IPI00844138   IPI00916246   IPI00916132   IPI00917152   IPI00916986   IPI00916857   IPI00658042   
Protein Interaction databases
DIP (DOE-UCLA)Q99259
IntAct (EBI)Q99259
FunCoupENSG00000128683
BioGRIDGAD1
STRING (EMBL)GAD1
ZODIACGAD1
Ontologies - Pathways
QuickGOQ99259
Ontology : AmiGOglutamate decarboxylase activity  glutamate decarboxylase activity  protein binding  intracellular  mitochondrion  plasma membrane  cell cortex  glutamate catabolic process  glutamate decarboxylation to succinate  chemical synaptic transmission  neurotransmitter secretion  gamma-aminobutyric acid biosynthetic process  vesicle membrane  glutamate binding  protein-pyridoxal-5-phosphate linkage  pyridoxal phosphate binding  axon  social behavior  locomotory exploration behavior  neurotransmitter biosynthetic process  response to drug  axon terminus  protein heterodimerization activity  protein N-terminus binding  presynaptic active zone  inhibitory synapse  clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane  
Ontology : EGO-EBIglutamate decarboxylase activity  glutamate decarboxylase activity  protein binding  intracellular  mitochondrion  plasma membrane  cell cortex  glutamate catabolic process  glutamate decarboxylation to succinate  chemical synaptic transmission  neurotransmitter secretion  gamma-aminobutyric acid biosynthetic process  vesicle membrane  glutamate binding  protein-pyridoxal-5-phosphate linkage  pyridoxal phosphate binding  axon  social behavior  locomotory exploration behavior  neurotransmitter biosynthetic process  response to drug  axon terminus  protein heterodimerization activity  protein N-terminus binding  presynaptic active zone  inhibitory synapse  clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane  
Pathways : KEGGAlanine, aspartate and glutamate metabolism    beta-Alanine metabolism    Taurine and hypotaurine metabolism    Butanoate metabolism    GABAergic synapse    Type I diabetes mellitus   
NDEx NetworkGAD1
Atlas of Cancer Signalling NetworkGAD1
Wikipedia pathwaysGAD1
Orthology - Evolution
OrthoDB2571
GeneTree (enSembl)ENSG00000128683
Phylogenetic Trees/Animal Genes : TreeFamGAD1
HOVERGENQ99259
HOGENOMQ99259
Homologs : HomoloGeneGAD1
Homology/Alignments : Family Browser (UCSC)GAD1
Gene fusions - Rearrangements
Fusion Cancer (Beijing)IFI27 [14q32.12]  -  GAD1 [2q31.1]  [FUSC002861]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGAD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GAD1
dbVarGAD1
ClinVarGAD1
1000_GenomesGAD1 
Exome Variant ServerGAD1
ExAC (Exome Aggregation Consortium)GAD1 (select the gene name)
Genetic variants : HAPMAP2571
Genomic Variants (DGV)GAD1 [DGVbeta]
DECIPHERGAD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGAD1 
Mutations
ICGC Data PortalGAD1 
TCGA Data PortalGAD1 
Broad Tumor PortalGAD1
OASIS PortalGAD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGAD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGAD1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch GAD1
DgiDB (Drug Gene Interaction Database)GAD1
DoCM (Curated mutations)GAD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GAD1 (select a term)
intoGenGAD1
Cancer3DGAD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603513    605363   
Orphanet18688   
MedgenGAD1
Genetic Testing Registry GAD1
NextProtQ99259 [Medical]
TSGene2571
GENETestsGAD1
Target ValidationGAD1
Huge Navigator GAD1 [HugePedia]
snp3D : Map Gene to Disease2571
BioCentury BCIQGAD1
ClinGenGAD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2571
Chemical/Pharm GKB GenePA28507
Clinical trialGAD1
Miscellaneous
canSAR (ICR)GAD1 (select the gene name)
Probes
Litterature
PubMed112 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGAD1
EVEXGAD1
GoPubMedGAD1
iHOPGAD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:09:18 CEST 2017

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