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GENE AND PROTEIN SUMMARY

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Gene name

ASPSCR1

Description

alveolar soft part sarcoma chromosome region, candidate 1

Protein class

Mapped to UniProt SWISS-PROT, Mutated genes in cancer, Potential transmembrane proteins, Potentially secreted proteins

Protein evidence

High

Entrez gene summary

The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

12 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus but not nucleoli

Additional location(s)

Plasma membrane, Vesicles 

Staining summary

Staining of nucleus in all three cell lines with additional staining of vesicles in U-251 MG and A-431 and plasma membrane in A-431 and U-2 OS.

Reliability (Single)

Antibodies in assay

HPA026749
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Most normal tissues showed weak to moderate cytoplasmic and/or nuclear staining. Ovarian follicle cells displayed strong cytoplasmic immunoreactivity.

Tissue specificity

Staining in 70 out of 79 cell types

Reliability (Single)

Antibodies in assay

HPA026749
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 4
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 12
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 90% of the cancers

Antibodies in assay

HPA026749
 

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

HPA026749

HPA026749

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

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA026749 pAb