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GENE AND PROTEIN SUMMARY

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Gene name

APH1A

Description

anterior pharynx defective 1 homolog A (C. elegans)

Protein class

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

Protein evidence

High

Entrez gene summary

This gene encodes a component of the gamma secretase complex that cleaves integral membrane proteins such as Notch receptors and beta-amyloid precursor protein. The gamma secretase complex contains this gene product, or the paralogous anterior pharynx defective 1 homolog B (APH1B), along with the presenilin, nicastrin, and presenilin enhancer-2 proteins. The precise function of this seven-transmembrane-domain protein is unknown though it is suspected of facilitating the association of nicastrin and presenilin in the gamma secretase complex as well as interacting with substrates of the gamma secretase complex prior to their proteolytic processing. Polymorphisms in a promoter region of this gene have been associated with an increased risk for developing sporadic Alzheimer's disease. Alternative splicing results in multiple protein-coding and non-protein-coding transcript variants. [provided by RefSeq, Aug 2011]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

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

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Additional location(s)

 

Staining summary

No staining was observed in any of the three cell lines.

Reliability (Single)

Antibodies in assay

CAB037272
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Normal cells showed moderate to strong cytoplasmic immunoreactivity with a granular pattern.

Tissue specificity

Staining in 79 out of 79 cell types

Reliability (Single)

Antibodies in assay

CAB037272
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
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 13
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 100% of the cancers

Antibodies in assay

CAB037272
 

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

 

CAB037272

A-431 Skin High

-

Negative
A-549 Lung High

-

CACO-2 Colon High

-

HEK 293 Embryonal kidney High

-

HeLa Cervix High

-

Hep-G2 Liver High

-

MCF-7 Pleural effusion High

-

PC-3 Bone marrow High

-

RT-4 Urinary bladder High

-

U-2 OS Bone High

-

Negative
U-251 MG Brain High

-

Negative

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB037272 msAb