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GENE AND PROTEIN SUMMARY

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Gene name

GABRA1

Description

gamma-aminobutyric acid (GABA) A receptor, alpha 1

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Potentially secreted proteins

Protein evidence

Medium

Entrez gene summary

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene cause juvenile myoclonic epilepsy and childhood absence epilepsy type 4. Multiple transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

9 in total
6 with predicted TM region
9 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Additional location(s)

 

Staining summary

No staining was observed in the three cell lines.

Reliability (Single)

Antibodies in assay

CAB022502
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Granular cytoplasmic expression in a subset of tissues including the CNS, gastrointestinal tract and pancreas.

Tissue specificity

Expressed in 20 out of 81 cell types

Reliability (APE)

Low

Antibodies in assay

CAB001963, CAB022502
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 13
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 16% of the cancers

Antibodies in assay

CAB001963, CAB022502
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Low
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

CAB001963

CAB022502

CAB022502

A-431 Skin Not detected
Negative
A-549 Lung Not detected
CACO-2 Colon Not detected
HEK 293 Embryonal kidney Not detected
HeLa Cervix Not detected
Hep-G2 Liver Not detected
MCF-7 Pleural effusion Not detected
PC-3 Bone marrow Not detected
RT-4 Urinary bladder Not detected
U-2 OS Bone Low
Negative
U-251 MG Brain Not detected
Negative

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB001963 pAb
CAB022502 mAb