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

Summary

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 two products, the predominant 67 kDa isoform and a smaller 25 kDa isoform. The smaller isoform is not thought to retain catalytic activity. [provided by RefSeq, Aug 2015]
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

Location:: 2 C2; 2 41.63 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (70391644..70432358)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (70561303..70602014)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Global knockdown of glutamate decarboxylase 67 elicits emotional abnormality in mice.
Title: Global knockdown of glutamate decarboxylase 67 elicits emotional abnormality in mice.
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.
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.
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.
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.
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.
Our results demonstrate that GAD67 plays an important role in Alzheimer's disease pathology
Title: Gad67 haploinsufficiency reduces amyloid pathology and rescues olfactory memory deficits in a mouse model of Alzheimer's disease.

Submit: New GeneRIF Correction See all GeneRIFs (67)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (14) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Gad1 (e-PCR), detects polymorphism
- UniSTS:143160

Gad1 (e-PCR), detects polymorphism
- UniSTS:275865

Gad1 (e-PCR), detects polymorphism
- UniSTS:265661

Gad1 (e-PCR), detects polymorphism
- UniSTS:265662

PMC30678P2 (e-PCR)
- UniSTS:272577

Gad1 (e-PCR), detects polymorphism
- UniSTS:507874

Gad1 (e-PCR), detects polymorphism
- UniSTS:507875

Z49976 (e-PCR)
- UniSTS:125937

Gad1 (e-PCR), detects polymorphism
- UniSTS:266998

Z49976 (e-PCR)
- UniSTS:158971

Homology

Homologs of the Gad1 gene: The Gad1 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, fruit fly, mosquito, C.elegans, M.oryzae, N.crassa, and frog.
Orthologs from Annotation Pipeline: 343 organisms have orthologs with human gene Gad1
Orthologs

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 catalytic 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	PubMed
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	PubMed
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
involved_in neurotransmitter biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurotransmitter biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in protein-pyridoxal-5-phosphate linkage	ISO Inferred from Sequence Orthology more info
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	PubMed
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 more info	PubMed
located_in neuron projection terminus	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	PubMed
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

EC 4.1.1.15

NP_032103.2

EC 4.1.1.15

XP_006498828.1

EC 4.1.1.15

XP_006498829.1

EC 4.1.1.15

XP_036014274.1

EC 4.1.1.15

XP_036014277.1

EC 4.1.1.15

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)

NM_001312900.1 → 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)

BY265972, KM102984

Consensus CDS

CCDS84535.1

UniProtKB/TrEMBL

A0A6P5R201, A0A8C6GIQ3, D3Z1L8

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 ...
NM_008077.5 → NP_032103.2 glutamate decarboxylase 1 isoform GAD67

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (GAD67).

Source sequence(s)

AI845043, AK148497, BY265972

Consensus CDS

CCDS16108.1

UniProtKB/Swiss-Prot

O08685, P48318

UniProtKB/TrEMBL

A0A6P5QUQ4, A0A8C6GJJ2, Q548L6

Related

ENSMUSP00000092539.5, ENSMUST00000094934.11

Conserved Domains (1) summary

pfam00282
Location:143 → 517

Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

70391644..70432358

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036158381.1 → XP_036014274.1 glutamate decarboxylase 1 isoform X2

Conserved Domains (1) summary

pfam00282
Location:38 → 342

Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
XM_006498766.5 → XP_006498829.1 glutamate decarboxylase 1 isoform X1

UniProtKB/Swiss-Prot

O08685, P48318

UniProtKB/TrEMBL

A0A6P5QUQ4, A0A8C6GJJ2, Q548L6

Conserved Domains (1) summary

pfam00282
Location:143 → 517

Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
XM_036158384.1 → XP_036014277.1 glutamate decarboxylase 1 isoform X3

Conserved Domains (1) summary

pfam00282
Location:1 → 294

Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
XM_006498765.4 → XP_006498828.1 glutamate decarboxylase 1 isoform X1

UniProtKB/Swiss-Prot

O08685, P48318

UniProtKB/TrEMBL

A0A6P5QUQ4, A0A8C6GJJ2, Q548L6

Conserved Domains (1) summary

pfam00282
Location:143 → 517

Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain