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Gad1 glutamate decarboxylase 1 [ Mus musculus (house mouse) ]

Gene ID: 14415, updated on 16-Apr-2024

Summary

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Official Symbol
Gad1provided by MGI
Official Full Name
glutamate decarboxylase 1provided by MGI
Primary source
MGI:MGI:95632
See related
Ensembl:ENSMUSG00000070880 AllianceGenome:MGI:95632
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
EP10; Gad-1
Summary
The protein encoded by this gene is an enzyme that catalyzes the production of gamma-aminobutyric acid from L-glutamic acid. Alternative splicing of this gene results in three products, the predominant 67 kDa isoform, a smaller 25 kDa isoform, and an even smaller 49 aa isoform. The two shorter isoforms are not thought to retain catalytic activity. [provided by RefSeq, Apr 2023]
Expression
Biased expression in frontal lobe adult (RPKM 99.8), cerebellum adult (RPKM 45.5) and 4 other tissues See more
Orthologs
human all
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Genomic context

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See Gad1 in Genome Data Viewer
Location:
2 C2; 2 41.63 cM
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (70392109..70432358)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (70561303..70602014)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_04762 Neighboring gene trans-acting transcription factor 5 Neighboring gene glutamate decarboxylase 1, opposite strand Neighboring gene glutamate rich 2 Neighboring gene STARR-seq mESC enhancer starr_04764 Neighboring gene predicted pseudogene 16510 Neighboring gene predicted gene, 46745

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. GAD1 alleviates injury-induced optic neurodegeneration by inhibiting retinal ganglion cell apoptosis. Zhu Y, et al. Exp Eye Res, 2022 Oct. PMID 35940240
  2. Sevoflurane-Induced Apoptosis in the Mouse Cerebral Cortex Follows Similar Characteristics of Physiological Apoptosis. Wang Q, et al. Front Mol Neurosci, 2022. PMID 35465098, Free PMC Article
  3. Fast and slow feedforward inhibitory circuits for cortical odor processing. Suzuki N, et al. Elife, 2022 Mar 17. PMID 35297763, Free PMC Article
  4. Traumatic brain injury to primary visual cortex produces long-lasting circuit dysfunction. Frankowski JC, et al. Commun Biol, 2021 Nov 17. PMID 34789835, Free PMC Article
  5. GAD67-mediated GABA Synthesis and Signaling Impinges on Directing Basket Cell Axonal Projections Toward Purkinje Cells in the Cerebellum. Miwa H, et al. Cerebellum, 2022 Dec. PMID 34676525

See all (861) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Tfap2b acts in GABAergic neurons to control sleep in mice.
    Title: Tfap2b acts in GABAergic neurons to control sleep in mice.
  2. GAD67-mediated GABA Synthesis and Signaling Impinges on Directing Basket Cell Axonal Projections Toward Purkinje Cells in the Cerebellum.
    Title: GAD67-mediated GABA Synthesis and Signaling Impinges on Directing Basket Cell Axonal Projections Toward Purkinje Cells in the Cerebellum.
  3. GAD1 alleviates injury-induced optic neurodegeneration by inhibiting retinal ganglion cell apoptosis.
    Title: GAD1 alleviates injury-induced optic neurodegeneration by inhibiting retinal ganglion cell apoptosis.
  4. Cannabinoid Receptor Type 1 Regulates Drug Reward Behavior via Glutamate Decarboxylase 67 Transcription.
    Title: Cannabinoid Receptor Type 1 Regulates Drug Reward Behavior via Glutamate Decarboxylase 67 Transcription.
  5. Global knockdown of glutamate decarboxylase 67 elicits emotional abnormality in mice.
    Title: Global knockdown of glutamate decarboxylase 67 elicits emotional abnormality in mice.
  6. Glutamic acid decarboxylase 67 haplodeficiency in mice: consequences of postweaning social isolation on behavior and changes in brain neurochemical systems.
    Title: Glutamic acid decarboxylase 67 haplodeficiency in mice: consequences of postweaning social isolation on behavior and changes in brain neurochemical systems.
  7. Collectively, our results suggest that blood glucose levels regulate GAD67 expression, which contributes to beta-cell responses to impaired glucose homeostasis caused by advanced aging.
    Title: Glutamate decarboxylase 67 contributes to compensatory insulin secretion in aged pancreatic islets.
  8. An increase in Gad67 expression is detected in the anterior cingulate cortex of nFabp3 knock-out mice.
    Title: FABP3 in the Anterior Cingulate Cortex Modulates the Methylation Status of the Glutamic Acid Decarboxylase(67) Promoter Region.
  9. Gad1 knockout mice showed a reduction of tissue GABA in the hippocampus and cortex including mPFC, and exhibited a cluster of effort-based behavior deficits including decreased home-cage wheel running and increased immobility in both tail suspension and forced swim tests. Results suggest that cortical GABA reduction preferentially impairs the effort-based behavior which requires much effort with little benefit.
    Title: Neuropsychiatric Phenotypes Produced by GABA Reduction in Mouse Cortex and Hippocampus.
  10. Glutamic acid decarboxylase 67 (GAD67) is encoded by the GAD1 gene and is one of the two GAD proteins responsible for the synthesis of the neurotransmitter gamma aminobutyric acid (GABA) from glutamate.
    Title: Hyperactivity in mice lacking one allele of the glutamic acid decarboxylase 67 gene.
Submit: New GeneRIF Correction See all GeneRIFs (68)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (15)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables carbon-carbon lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables carboxy-lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables glutamate binding ISO
Inferred from Sequence Orthology
more info
  
enables glutamate decarboxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables glutamate decarboxylase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables glutamate decarboxylase activity ISO
Inferred from Sequence Orthology
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables lyase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
  
enables pyridoxal phosphate binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in carboxylic acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in gamma-aminobutyric acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in gamma-aminobutyric acid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in gamma-aminobutyric acid biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in glutamate catabolic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within locomotory exploration behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within social behavior IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in GABA-ergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in GABA-ergic synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in axon IDA
Inferred from Direct Assay
more info
 PubMed 
located_in axon terminus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell cortex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane TAS
Traceable Author Statement
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in inhibitory synapse IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HDA PubMed 
located_in neuron projection terminus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
  
is_active_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in presynapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in presynapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in presynaptic active zone IDA
Inferred from Direct Assay
more info
 PubMed 
located_in presynaptic active zone ISO
Inferred from Sequence Orthology
more info
 PubMed 
located_in synapse IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
glutamate decarboxylase 1
Names
67 kDa glutamic acid decarboxylase
glutamic acid decarboxylase 1
NP_001299829.1
NP_001407028.1
NP_001407029.1
NP_001407030.1
NP_001407031.1
NP_001407032.1
NP_001407033.1
NP_001407034.1
NP_001407035.1
NP_032103.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001312900.2 → NP_001299829.1  glutamate decarboxylase 1 isoform GAD25

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate terminal exon in place of the last eleven exons compared to variant 1. The resulting isoform (GAD25) has a shorter and distinct C-terminus compared to isoform GAD67.
    Source sequence(s)
    AC097273
    Consensus CDS
    CCDS84535.1
    UniProtKB/TrEMBL
    D3Z1L8, D3Z5S3
    Related
    ENSMUSP00000119733.2, ENSMUST00000148210.8
    Conserved Domains (1) summary
    cl18945
    Location:143 → 212
    AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

  2. NM_001420099.1 → NP_001407028.1  glutamate decarboxylase 1 isoform GAD67

    Status: REVIEWED

    Source sequence(s)
    AC097273
    UniProtKB/Swiss-Prot
    O08685, P48318
    UniProtKB/TrEMBL
    Q548L6

  3. NM_001420100.1 → NP_001407029.1  glutamate decarboxylase 1 isoform GAD67

    Status: REVIEWED

    Source sequence(s)
    AC097273
    UniProtKB/Swiss-Prot
    O08685, P48318
    UniProtKB/TrEMBL
    Q548L6

  4. NM_001420101.1 → NP_001407030.1  glutamate decarboxylase 1 isoform GAD67

    Status: REVIEWED

    Source sequence(s)
    AC097273
    UniProtKB/Swiss-Prot
    O08685, P48318
    UniProtKB/TrEMBL
    Q548L6

  5. NM_001420102.1 → NP_001407031.1  glutamate decarboxylase 1 isoform GAD25

    Status: REVIEWED

    Source sequence(s)
    AC097273
    UniProtKB/TrEMBL
    D3Z1L8

  6. NM_001420103.1 → NP_001407032.1  glutamate decarboxylase 1 isoform GAD25

    Status: REVIEWED

    Source sequence(s)
    AC097273
    UniProtKB/TrEMBL
    D3Z1L8

  7. NM_001420104.1 → NP_001407033.1  glutamate decarboxylase 1 isoform GAD25

    Status: REVIEWED

    Source sequence(s)
    AC097273
    UniProtKB/TrEMBL
    D3Z1L8

  8. NM_001420105.1 → NP_001407034.1  glutamate decarboxylase 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC097273

  9. NM_001420106.1 → NP_001407035.1  glutamate decarboxylase 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC097273

  10. NM_008077.6 → NP_032103.2  glutamate decarboxylase 1 isoform GAD67

    See identical proteins and their annotated locations for NP_032103.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (GAD67).
    Source sequence(s)
    AC097273
    Consensus CDS
    CCDS16108.1
    UniProtKB/Swiss-Prot
    O08685, P48318
    UniProtKB/TrEMBL
    Q548L6
    Related
    ENSMUSP00000092539.5, ENSMUST00000094934.11
    Conserved Domains (1) summary
    pfam00282
    Location:143 → 517
    Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

RNA

  1. NR_185134.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC097273

  2. NR_185135.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC097273

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    70392109..70432358
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_003950661.2 RNA Sequence

  2. XR_003950660.2 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P48318.2 GenPept UniProtKB/Swiss-Prot:P48318

Gene LinkOut

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