GAD1 glutamate decarboxylase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GAD1provided by HGNC
Official Full Name: glutamate decarboxylase 1provided by HGNC
Primary source: HGNC:HGNC:4092
See related: Ensembl:ENSG00000128683 MIM:605363; AllianceGenome:HGNC:4092
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GAD; SCP; CPSQ1; DEE89
Summary: 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]
Expression: Biased expression in brain (RPKM 27.1) and kidney (RPKM 1.8) See more
Orthologs: mouse all
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Genomic context

Location:: 2q31.1

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (170813210..170861151)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (171290353..171338262)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (171673397..171717661)

Chromosome 2 - NC_000002.12 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of GAD1 gene polymorphism rs3749034 with the information processing and cognitive event-related potentials in schizophrenia patients and healthy subjects.
Title: Association of GAD1 gene polymorphism rs3749034 with the information processing and cognitive event-related potentials in schizophrenia patients and healthy subjects.
GAD1 ameliorates glioma progression through regulating cuproptosis via RAS/MAPK pathway.
Title: GAD1 ameliorates glioma progression through regulating cuproptosis via RAS/MAPK pathway.
A preliminary genetic association study of GAD1 and GABAB receptor genes in patients with treatment-resistant schizophrenia.
Title: A preliminary genetic association study of GAD1 and GABAB receptor genes in patients with treatment-resistant schizophrenia.
Interacting Roles of COMT and GAD1 Genes in Patients with Treatment-Resistant Schizophrenia: a Genetic Association Study of Schizophrenia Patients and Healthy Controls.
Title: Interacting Roles of COMT and GAD1 Genes in Patients with Treatment-Resistant Schizophrenia: a Genetic Association Study of Schizophrenia Patients and Healthy Controls.
Evaluation of the Diagnostic and Predictive Value of Glutamic Acid Decarboxylase, Zinc Transporter 8 Serum Levels in Alzheimer's Disease.
Title: Evaluation of the Diagnostic and Predictive Value of Glutamic Acid Decarboxylase, Zinc Transporter 8 Serum Levels in Alzheimer's Disease.
Exploring the relationship between white matter integrity, cocaine use and GAD polymorphisms using Bayesian Model Averaging.
Title: Exploring the relationship between white matter integrity, cocaine use and GAD polymorphisms using Bayesian Model Averaging.
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.
Glutamic acid decarboxylase antibodies in neurocritical patients: a culprit or a bystander?
Title: Glutamic acid decarboxylase antibodies in neurocritical patients: a culprit or a bystander?
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Title: Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Title: Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Submit: New GeneRIF Correction See all GeneRIFs (106)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy 89 MedGen: C5436853 OMIM: 619124 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Neuropathic pain induced by HIV-1 gp120 with ddC is inhibited by overexpression of GAD67 mediated by HSV vector	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G66911 (e-PCR)
- UniSTS:166916

SHGC-30155 (e-PCR)
- UniSTS:20997

G66915 (e-PCR)
- UniSTS:166917

G66919 (e-PCR)
- UniSTS:166918

G66908 (e-PCR)
- UniSTS:166919

G66909 (e-PCR)
- UniSTS:166920

G66910 (e-PCR)
- UniSTS:166921

G66912 (e-PCR)
- UniSTS:166922

G66913 (e-PCR)
- UniSTS:166923

G66914 (e-PCR)
- UniSTS:166924

G66916 (e-PCR)
- UniSTS:166925

GAD1 (e-PCR)
- UniSTS:480014

G66918 (e-PCR)
- UniSTS:166927

D2S124 (e-PCR), detects polymorphism
- UniSTS:64108

D2S148 (e-PCR)
- UniSTS:39829

D2S2194 (e-PCR)
- UniSTS:31669

RH122989 (e-PCR)
- UniSTS:135381

SHGC-31511 (e-PCR)
- UniSTS:48611

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glutamate decarboxylase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glutamate decarboxylase activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables pyridoxal phosphate binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in gamma-aminobutyrate shunt	TAS Traceable Author Statement more info	PubMed
involved_in gamma-aminobutyric acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in gamma-aminobutyric acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glutamate catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in glutamate catabolic process	TAS Traceable Author Statement more info	PubMed
involved_in locomotory exploration behavior	IEA Inferred from Electronic Annotation more info
involved_in social behavior	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in axon terminus	IEA Inferred from Electronic Annotation more info
located_in cell cortex	IEA Inferred from Electronic Annotation more info
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 inhibitory synapse	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
is_active_in presynaptic active zone	IBA Inferred from Biological aspect of Ancestor more info
located_in vesicle membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: glutamate decarboxylase 1

Names: 67 kDa glutamic acid decarboxylase; GAD-67; glutamate decarboxylase 1 (brain, 67kDa)

NP_000808.2

EC 4.1.1.15

NP_038473.2

EC 4.1.1.15

XP_011509224.1

EC 4.1.1.15

XP_016859245.1

EC 4.1.1.15

XP_016859247.1

EC 4.1.1.15

XP_024308551.1

EC 4.1.1.15

XP_047299830.1

EC 4.1.1.15

XP_047299831.1

EC 4.1.1.15

XP_054197263.1

EC 4.1.1.15

XP_054197264.1

EC 4.1.1.15

XP_054197265.1

EC 4.1.1.15

XP_054197266.1

EC 4.1.1.15

XP_054197267.1

EC 4.1.1.15

XP_054197268.1

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.

Genomic

NG_021477.2 RefSeqGene

Range

8679..52943

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000817.3 → NP_000808.2 glutamate decarboxylase 1 isoform GAD67

See identical proteins and their annotated locations for NP_000808.2

Status: REVIEWED

Description

Transcript Variant: Transcript variant GAD67 represents the full-length and predominant form of this gene.

Source sequence(s)

AC007405

Consensus CDS

CCDS2239.1

UniProtKB/Swiss-Prot

Q49AK1, Q53TQ7, Q99259, Q9BU91, Q9UHH4

UniProtKB/TrEMBL

A0A0S2Z3V5, A8K967

Related

ENSP00000350928.3, ENST00000358196.8

Conserved Domains (1) summary

pfam00282
Location:144 → 518

Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
NM_013445.4 → NP_038473.2 glutamate decarboxylase 1 isoform GAD25

See identical proteins and their annotated locations for NP_038473.2

Status: REVIEWED

Description

Transcript Variant: Transcript variant GAD25 represents a truncated form of the full-length transcript variant GAD67.

Source sequence(s)

BC002815, M81883

Consensus CDS

CCDS2240.1

UniProtKB/TrEMBL

F8WD43

Related

ENSP00000364421.1, ENST00000375272.5

Conserved Domains (1) summary

cl18945
Location:144 → 213

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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

170813210..170861151

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011510922.1 → XP_011509224.1 glutamate decarboxylase 1 isoform X1

See identical proteins and their annotated locations for XP_011509224.1

UniProtKB/Swiss-Prot

Q49AK1, Q53TQ7, Q99259, Q9BU91, Q9UHH4

UniProtKB/TrEMBL

A0A0S2Z3V5, A8K967

Conserved Domains (1) summary

pfam00282
Location:144 → 518

Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
XM_017003758.3 → XP_016859247.1 glutamate decarboxylase 1 isoform X4

UniProtKB/TrEMBL

F8WD43

Related

ENSP00000403849.1, ENST00000414527.6

Conserved Domains (1) summary

cl18945
Location:144 → 213

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 ...
XM_017003756.2 → XP_016859245.1 glutamate decarboxylase 1 isoform X1

UniProtKB/Swiss-Prot

Q49AK1, Q53TQ7, Q99259, Q9BU91, Q9UHH4

UniProtKB/TrEMBL

A0A0S2Z3V5, A8K967

Conserved Domains (1) summary

pfam00282
Location:144 → 518

Pyridoxal_deC; Pyridoxal-dependent decarboxylase conserved domain
XM_047443875.1 → XP_047299831.1 glutamate decarboxylase 1 isoform X4
XM_047443874.1 → XP_047299830.1 glutamate decarboxylase 1 isoform X2
XM_024452783.2 → XP_024308551.1 glutamate decarboxylase 1 isoform X3

Conserved Domains (1) summary

cl18945
Location:1 → 262

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 ...