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GENE AND PROTEIN SUMMARY

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Gene name

NPC1L1

Description

NPC1 (Niemann-Pick disease, type C1, gene)-like 1

Protein class

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

Protein evidence

High

Entrez gene summary

The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

4 in total
4 with predicted TM region
4 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

HPA018105
 

NORMAL TISSUE & ORGAN SUMMARY

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Staining summary

Weak to moderate cytoplasmic positivity with a granular pattern was observed in most normal tissues. The gall bladder, adrenal gland, Leydig cells, intestine and renal tubules exhibited strong staining.

Tissue specificity

Staining in 67 out of 80 cell types

Reliability (Single)

Antibodies in assay

HPA018105
 

Organ

No of cell types

Antibody staining

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
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 67% of the cancers

Antibodies in assay

HPA018105
 

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

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA018105

HPA018105

A-431 Skin Not detected
Negative
A-549 Lung Not detected
CACO-2 Colon Low
HEK 293 Embryonal kidney Low
HeLa Cervix Low
Hep-G2 Liver Medium
MCF-7 Pleural effusion Low
PC-3 Bone marrow Not detected
RT-4 Urinary bladder Low
U-2 OS Bone Not detected
U-251 MG Brain Not detected
Negative

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA018105 pAb