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GENE AND PROTEIN SUMMARY

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Gene name

GBA

Description

glucosidase, beta, acid

Protein class

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

Protein evidence

High

Entrez gene summary

This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

5 in total
0 with predicted TM region
4 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleoli

Additional location(s)

 

Staining summary

Staining of nucleoli in A-431 and U-2 OS.

Reliability (Single)

Antibodies in assay

HPA006667
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Normal tissues showed moderate to strong cytoplasmic positivity, often with a granular pattern. Astrocytes were distinctly stained. Smooth and skeletal muscle were mainly negative.

Tissue specificity

Staining in 62 out of 74 cell types

Reliability (Single)

Antibodies in assay

HPA006667
 

Organ

No of cell types

Antibody staining

CNS (brain) 10
Hematopoietic (blood) 7
Liver and pancreas 5
Digestive (GI-tract) 12
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 10
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 88% of the cancers

Antibodies in assay

HPA006667
 

Tissue

Cancer staining

Normal tissue
staining

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

Tissue

Cancer staining

Normal tissue
staining

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

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA006667

HPA006667

A-431 Skin High
Moderate
A-549 Lung High
CACO-2 Colon High
HEK 293 Embryonal kidney Medium
HeLa Cervix High
Hep-G2 Liver Medium
MCF-7 Pleural effusion High
PC-3 Bone marrow High
RT-4 Urinary bladder Medium
U-2 OS Bone Medium
Weak
U-251 MG Brain High
Negative

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA006667 pAb