NPC1L1

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]

Description

NPC1 like intracellular cholesterol transporter 1

Tissue specificity

Group enriched (intestine, liver)

Predicted location

Membrane

Protein family

FDA approved drug targets
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted membrane proteins
Protein evidence (Kim et al 2014)
Transporters

Chromosome

7 (44512535 - 44541330)

Ensembl ID

ENSG00000015520  (ver. 103.38)

Orthologs

Mouse Npc1l1: ENSMUSG00000020447

UniProt

Q9UHC9

neXtProt

NX_Q9UHC9

Human splice variants
Mouse splice variants

Protein structure