InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Npc1l1

Summary

InnateDB Protein

IDBP-146408.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Npc1l1

Protein Name

NPC1-like 1

Synonyms

Species

Mus musculus

Ensembl Protein

ENSMUSP00000004505

InnateDB Gene

IDBG-146406 (Npc1l1)

Protein Structure

UniProt Annotation

Function

Plays a major role in cholesterol homeostasis. Is critical for the uptake of both phytosterol and cholesterol across the plasma membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorption (By similarity). The protein may have a function in the transport of multiple lipids and their homeostasis, and may play a critical role in regulating lipid metabolism. Acts as a negative regulator of NPC2 and down-regulates its expression and secretion by inhibiting its maturation and accelerating its degradation (By similarity). {ECO:0000250}.

Subcellular Localization

Apical cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Subfractionation of brush border membranes from proximal enterocytes suggests considerable association with the apical membrane fraction. Exists as a predominantly cell surface membrane expressed protein.

Disease Associations

Tissue Specificity

Expressed in small intestine, stomach and muscle, along with detectable expression in lung, heart, gall bladder, brain, testis, skin and liver. Expression in liver is extremely low. {ECO:0000269PubMed:14976318, ECO:0000269PubMed:15671032}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008144	drug binding
GO:0008158	hedgehog receptor activity
GO:0017137	Rab GTPase binding
GO:0031489	myosin V binding

Biological Process

GO:0006695	cholesterol biosynthetic process
GO:0007165	signal transduction
GO:0030299	intestinal cholesterol absorption
GO:0030301	cholesterol transport
GO:0042157	lipoprotein metabolic process
GO:0042493	response to drug