GAD1

GENERAL INFORMATION

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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

8
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enriched (cerebral cortex)
GTEx:Group enriched (cerebellum, cerebral cortex, hippocampus)

Protein evidence

Evidence at protein level

Protein localization

Selective cytoplasmic expression in a subset of neuronal cells.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA058412 , CAB004415
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enriched (cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (cerebellum, cerebral cortex, hippocampus)

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

2571

UniProt

Q99259 (UniProt - Evidence at protein level)

neXtProt

NX_Q99259

Antibodypedia

GAD1 antibodies


PROTEIN BROWSER

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ENST00000344257
 
ENST00000358196
 
ENST00000375272
 
ENST00000445006
 
ENST00000454603
 
ENST00000455008
 
ENST00000456864
 
ENST00000486850
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

GAD1-001 ENSP00000350928
ENST00000358196
Q99259
Show all »
Show » Show » 594 66.9 No 0
GAD1-002 ENSP00000341167
ENST00000344257
Q99259
Show all »
Show » Show » 224 25.3 No 0
GAD1-007 ENSP00000402366
ENST00000454603
C9JLZ7
Show all »
Show » 85 9.2 No 0
GAD1-008 ENSP00000394948
ENST00000445006
C9JN45
Show all »
Show » 37 3.8 No 0
GAD1-009 ENSP00000405917
ENST00000455008
C9J6C9
Show all »
Show » 115 12.7 No 0
GAD1-010 ENSP00000394255
ENST00000456864
C9JT43
Show all »
Show » 121 13.4 No 0
GAD1-015 ENSP00000476147
ENST00000486850
Show » 84 9.4 No 0
GAD1-201 ENSP00000364421
ENST00000375272
Q99259
Show all »
Show » Show » 224 25.3 No 0