InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Npc2

Summary

InnateDB Protein

IDBP-157078.6

Last Modified

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

Gene Symbol

Npc2

Protein Name

Niemann Pick type C2

Synonyms

2700012J19Rik; AA408070; AU045843; HE1;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000021668

InnateDB Gene

IDBG-157076 (Npc2)

Protein Structure

UniProt Annotation

Function

Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular 'tag team duo' (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and is exported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknown mechanism. The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport. {ECO:0000269PubMed:21315718}.

Subcellular Localization

Secreted. Endoplasmic reticulum {ECO:0000250}. Lysosome {ECO:0000250}.

Disease Associations

Tissue Specificity

Highly expressed in epididymis.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 12 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	12 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0015485	cholesterol binding
GO:0019899	enzyme binding

Biological Process

GO:0008203	cholesterol metabolic process
GO:0009615	response to virus
GO:0030301	cholesterol transport
GO:0032366	intracellular sterol transport
GO:0032367	intracellular cholesterol transport
GO:0033344	cholesterol efflux
GO:0042632	cholesterol homeostasis