NPC1L1

GENERAL INFORMATION

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Gene name

NPC1L1

Gene description

NPC1-like 1

Protein class

FDA approved drug targets
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (duodenum, liver, small intestine)
GTEx:Tissue enriched (liver)

Protein evidence

Evidence at protein level

Protein localization

Selective membranous expression in small intestine.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
CAB070127 , CAB070128
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Small intestine

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (duodenum, liver, small intestine)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (liver)

Organ

Expression



GENE INFORMATION

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Gene name

NPC1L1

Synonyms

Description

NPC1-like 1 (HGNC Symbol)

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]

Chromosome

7

Cytoband

p13

Chromosome location (bp)

44512535 - 44541315

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000015520 (version 78.38)

Entrez gene

29881

UniProt

Q9UHC9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UHC9

Antibodypedia

NPC1L1 antibodies


PROTEIN BROWSER

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ENST00000289547
 
ENST00000381160
 
ENST00000423141
 
ENST00000546276
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NPC1L1-001 ENSP00000289547
ENST00000289547
Q9UHC9
Show all »
Show » Show » 1359 148.7 Yes >9
NPC1L1-002 ENSP00000404670
ENST00000423141
Q9UHC9
Show all »
Show » Show » 724 79.1 Yes 6
NPC1L1-003 ENSP00000370552
ENST00000381160
Q9UHC9
Show all »
Show » Show » 1332 145.8 Yes >9
NPC1L1-201 ENSP00000438033
ENST00000546276
Q9UHC9
Show all »
Show » Show » 1286 140.4 Yes >9