Fields »

GENE AND PROTEIN SUMMARY

? »

Gene name

ATXN3

Description

ataxin 3

Protein class

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

Protein evidence

Medium

Entrez gene summary

Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

31 in total
1 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

? »

Show image »

Main location(s)

Vesicles

Additional location(s)

 

Staining summary

Staining of vesicles in all three cell lines.

Reliability (Single)

Antibodies in assay

HPA024123
 

NORMAL TISSUE & ORGAN SUMMARY

? »

Show image »

Expression summary

Cytoplasmic and nuclear expression in most tissues. Caution: Based on antibodies targeting proteins from multiple genes.

Tissue specificity

Expressed in 75 out of 79 cell types

Reliability (APE)

Very low

Antibodies in assay

CAB021976, HPA024123
 

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 12
Endocrine tissues 2

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

? »

Staining summary

Antibody staining in 71% of the cancers

Antibodies in assay

CAB021976, HPA024123
 

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

? »

RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

CAB021976

HPA024123

HPA024123

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

ANTIBODY SUMMARY

? »

Antibody

Clonality

Validation

Also mapped to

CAB021976 mAb
HPA024123 pAb
ATXN3L (80%)