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GENE AND PROTEIN SUMMARY

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Gene name

NPC1

Description

Niemann-Pick disease, type C1

Protein class

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

Protein evidence

Medium

Entrez gene summary

This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

7 in total
7 with predicted TM region
1 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus but not nucleoli

Additional location(s)

Cytoplasm 

Staining summary

Staining of nucleus in all three cell lines with additional staining of the cytoplasm in U-251 MG.

Reliability (Single)

Antibodies in assay

HPA026618
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Normal tissues showed moderate cytoplasmic staining in most tissues. Gall bladder, ovarian follicle cells, most glial cells, thyroid and adrenal glands displayed strong cytoplasmic staining. Bile duct cells, squamous epithelia, prostate, lymph node and neuronal cells in CNS were weakly stained or negative.

Tissue specificity

Staining in 48 out of 80 cell types

Reliability (Single)

Antibodies in assay

HPA026618
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 4
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 13
Endocrine tissues 3

Level of antibody staining





Strong
Moderate
Weak
Negative

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 61% of the cancers

Antibodies in assay

HPA026618
 

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

HPA026618

HPA026618

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

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA026618 pAb