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GAD1

GENERAL INFORMATION

Gene name

 GAD1

Gene description

 Glutamate decarboxylase 1 (brain, 67kDa)

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 9
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (cerebral cortex)
GTEx:Tissue enhanced (hypothalamus, caudate, cerebral cortex)
FANTOM5:Tissue enhanced (caudate, brain, hippocampus)

Protein evidence

 Evidence at protein level

Protein expression

 Selective cytoplasmic expression in a subset of neuronal cells.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA058412 , CAB004415
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (cerebral cortex)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (hypothalamus, caudate, cerebral cortex)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (caudate, brain, hippocampus)

GENE INFORMATION

Gene name

 GAD1 (HGNC Symbol)

Synonyms

 GAD

Description

 Glutamate decarboxylase 1 (brain, 67kDa) (HGNC Symbol)

Entrez gene 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]

Chromosome

 2

Cytoband

 q31.1

Chromosome location (bp)

 170813213 - 170861151

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000128683 (version 83.38)

Entrez gene

 2571

UniProt

 Q99259 (UniProt - Evidence at protein level)

neXtProt

 NX_Q99259

Antibodypedia

 GAD1 antibodies

PROTEIN BROWSER
GAD1-001
GAD1-002
GAD1-007
GAD1-008
GAD1-009
GAD1-010
GAD1-015
GAD1-201
GAD1-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
GAD1-001
ENSP00000350928
ENST00000358196
Q99259 [Direct mapping]
Glutamate decarboxylase 1
Show all
Enzymes
   ENZYME proteins
   Lyases
   MEMSAT-SVM predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Show all
GO:0004351 [glutamate decarboxylase activity]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005886 [plasma membrane]
GO:0006538 [glutamate catabolic process]
GO:0006540 [glutamate decarboxylation to succinate]
GO:0007268 [synaptic transmission]
GO:0007269 [neurotransmitter secretion]
GO:0009449 [gamma-aminobutyric acid biosynthetic process]
GO:0012506 [vesicle membrane]
GO:0016595 [glutamate binding]
GO:0016831 [carboxy-lyase activity]
GO:0018352 [protein-pyridoxal-5-phosphate linkage]
GO:0019752 [carboxylic acid metabolic process]
GO:0030170 [pyridoxal phosphate binding]
GO:0042136 [neurotransmitter biosynthetic process]
GO:0042493 [response to drug]
GO:0046982 [protein heterodimerization activity]
GO:0047485 [protein N-terminus binding]
GO:0048786 [presynaptic active zone]
GO:0061202 [clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane]
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 594 aa
66.9 kDa 		No 0
GAD1-002
ENSP00000341167
ENST00000344257
Q99259 [Direct mapping]
Glutamate decarboxylase 1
Show all
Enzymes
   ENZYME proteins
   Lyases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Show all
GO:0004351 [glutamate decarboxylase activity]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005886 [plasma membrane]
GO:0006538 [glutamate catabolic process]
GO:0006540 [glutamate decarboxylation to succinate]
GO:0007268 [synaptic transmission]
GO:0007269 [neurotransmitter secretion]
GO:0012506 [vesicle membrane]
GO:0016831 [carboxy-lyase activity]
GO:0018352 [protein-pyridoxal-5-phosphate linkage]
GO:0019752 [carboxylic acid metabolic process]
GO:0030170 [pyridoxal phosphate binding]
GO:0042136 [neurotransmitter biosynthetic process]
GO:0061202 [clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane]
Show all
 224 aa
25.3 kDa 		No 0
GAD1-007
ENSP00000402366
ENST00000454603
C9JLZ7 [Direct mapping]
Glutamate decarboxylase 1
Show all
Predicted intracellular proteins
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 85 aa
9.2 kDa 		No 0
GAD1-008
ENSP00000394948
ENST00000445006
C9JN45 [Direct mapping]
Glutamate decarboxylase 1
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Predicted intracellular proteins
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 37 aa
3.8 kDa 		No 0
GAD1-009
ENSP00000405917
ENST00000455008
C9J6C9 [Direct mapping]
Glutamate decarboxylase 1
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Predicted intracellular proteins
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 115 aa
12.7 kDa 		No 0
GAD1-010
ENSP00000394255
ENST00000456864
C9JT43 [Direct mapping]
Glutamate decarboxylase 1
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Predicted intracellular proteins
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 121 aa
13.4 kDa 		No 0
GAD1-015
ENSP00000476147
ENST00000486850
U3KQR2 [Direct mapping]
Glutamate decarboxylase 1
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Predicted intracellular proteins
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 84 aa
9.4 kDa 		No 0
GAD1-201
ENSP00000364421
ENST00000375272
Q99259 [Direct mapping]
Glutamate decarboxylase 1
Show all
Enzymes
   ENZYME proteins
   Lyases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Show all
GO:0004351 [glutamate decarboxylase activity]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005886 [plasma membrane]
GO:0006538 [glutamate catabolic process]
GO:0006540 [glutamate decarboxylation to succinate]
GO:0007268 [synaptic transmission]
GO:0007269 [neurotransmitter secretion]
GO:0012506 [vesicle membrane]
GO:0016831 [carboxy-lyase activity]
GO:0018352 [protein-pyridoxal-5-phosphate linkage]
GO:0019752 [carboxylic acid metabolic process]
GO:0030170 [pyridoxal phosphate binding]
GO:0042136 [neurotransmitter biosynthetic process]
GO:0061202 [clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane]
Show all
 224 aa
25.3 kDa 		No 0
GAD1-202
ENSP00000486612
ENST00000625689
Q99259 [Direct mapping]
Glutamate decarboxylase 1
Show all
Enzymes
   ENZYME proteins
   Lyases
   MEMSAT-SVM predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Potential drug targets
Show all
GO:0004351 [glutamate decarboxylase activity]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005886 [plasma membrane]
GO:0006538 [glutamate catabolic process]
GO:0006540 [glutamate decarboxylation to succinate]
GO:0007268 [synaptic transmission]
GO:0007269 [neurotransmitter secretion]
GO:0012506 [vesicle membrane]
GO:0016831 [carboxy-lyase activity]
GO:0018352 [protein-pyridoxal-5-phosphate linkage]
GO:0019752 [carboxylic acid metabolic process]
GO:0030170 [pyridoxal phosphate binding]
GO:0042136 [neurotransmitter biosynthetic process]
GO:0061202 [clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane]
Show all
 425 aa
47.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.