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GENE AND PROTEIN SUMMARY

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Gene name

AAAS

Description

achalasia, adrenocortical insufficiency, alacrimia

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins

Entrez gene summary

The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nuclear membrane

Additional location(s)

Nucleus but not nucleoli, Cytoplasm, Centrosome 

Staining summary

Staining of nuclear membrane in all three cell lines with additional staining of nucleus and cytoplasm in U-251 MG and centrosome in A-431.

Reliability (Single)

Antibodies in assay

HPA040086
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Cells in seminiferus ducts, placental trophoblasts, renal tubules, thyroid and adrenal glands showed strong cytoplasmic immunoreactivity. Lymphoid tissues, male genitalia tract, myocytes, neuropil and subsets of cells in the CNS showed moderate to strong cytoplasmic positivity. Hepatocytes and ductal cells in salivary gland showed strong membranous positivity. Remaining normal tissues were in general weakly stained or negative.

Tissue specificity

Staining in 37 out of 64 cell types

Reliability (Single)

Antibodies in assay

HPA040086
 

Organ

No of cell types

Antibody staining

CNS (brain) 9
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 11
Respiratory (lung) 4
Cardiovascular 1
Female tissues 10
Placenta 1
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 4
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 35% of the cancers

Antibodies in assay

HPA040086
 

Tissue

Cancer staining

Normal tissue
staining

Breast cancer
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Malignant carcinoid
 
Malignant glioma
 
 
 
Malignant lymphoma
 
 
 
 

Tissue

Cancer staining

Normal tissue
staining

Malignant 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 level category

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

 

HPA040086

A-431 Skin Medium

-

Weak
U-2 OS Bone Medium

-

Weak
U-251 MG Brain Medium

-

Weak

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA040086 pAb