NPC1L1

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)

44552134 - 44580914

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000015520 (version 75.37)

Entrez gene

29881

UniProt

Q9UHC9 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UHC9

Antibodypedia

NPC1L1 antibodies
 

PROTEIN VIEW

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NPC1L1-001
 
NPC1L1-002
 
NPC1L1-003
 
NPC1L1-201
 
 
 
 
 

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
B7ZLE6
Show all »
Show » Show » 1286 140.4 Yes >9