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GENE AND PROTEIN SUMMARY

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Gene name

WAS

Description

Wiskott-Aldrich syndrome

Protein class

Mapped to UniProt SWISS-PROT, Mutated genes in cancer

Protein evidence

High

Entrez gene summary

The Wiskott-Aldrich syndrome (WAS) family of proteins share similar domain structure, and are involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton. The presence of a number of different motifs suggests that they are regulated by a number of different stimuli, and interact with multiple proteins. Recent studies have demonstrated that these proteins, directly or indirectly, associate with the small GTPase, Cdc42, known to regulate formation of actin filaments, and the cytoskeletal organizing complex, Arp2/3. Wiskott-Aldrich syndrome is a rare, inherited, X-linked, recessive disease characterized by immune dysregulation and microthrombocytopenia, and is caused by mutations in the WAS gene. The WAS gene product is a cytoplasmic protein, expressed exclusively in hematopoietic cells, which show signalling and cytoskeletal abnormalities in WAS patients. A transcript variant arising as a result of alternative promoter usage, and containing a different 5' UTR sequence, has been described, however, its full-length nature is not known. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus

Additional location(s)

 

Staining summary

Localized to the nucleus.

Reliability (APE)

Medium

Antibodies in assay

HPA002022, CAB004290
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

High cytoplasmic expression mainly observed in lymphoid cells.

Tissue specificity

Expressed in 35 out of 80 cell types

Reliability (APE)

High

Antibodies in assay

HPA002022, CAB004290
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 12
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 67% of the cancers

Antibodies in assay

HPA002022, CAB004290
 

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

HPA002022

CAB004290

HPA002022

CAB004290

A-431 Skin Low
ModerateWeak
A-549 Lung Low
CACO-2 Colon Not detected
HEK 293 Embryonal kidney Not detected
HeLa Cervix Low
Hep-G2 Liver Not detected

-

MCF-7 Pleural effusion Low
PC-3 Bone marrow Not detected
RT-4 Urinary bladder Not detected
U-2 OS Bone Low
WeakWeak
U-251 MG Brain Not detected
ModerateWeak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA002022 pAb
CAB004290 mAb