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GENE AND PROTEIN SUMMARY

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Gene name

PSEN1

Description

presenilin 1

Protein class

Mapped to UniProt SWISS-PROT, Peptidases, Potential transmembrane proteins, Transporters

Protein evidence

High

Entrez gene summary

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

24 in total
16 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Cytoskeleton (Microtubules)

Additional location(s)

Centrosome 

Staining summary

Staining of cytoskeleton (microtubules) in all three cell lines with additional staining of centrosome in U-251 MG and A-431.

Reliability (Single)

Antibodies in assay

HPA030760
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic expression with a granular pattern in all tissues of varying expression levels.

Tissue specificity

Expressed in 69 out of 82 cell types

Reliability (APE)

Medium

Antibodies in assay

CAB006844, HPA030760
 

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 14
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 75% of the cancers

Antibodies in assay

CAB006844, HPA030760
 

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

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

CAB006844

HPA030760

A-431 Skin High
Moderate
A-549 Lung High
CACO-2 Colon High
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 High
U-2 OS Bone High
Strong
U-251 MG Brain Medium
Strong

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB006844 mAb
HPA030760 pAb