LMPD Database

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LMP006771

UniProt Annotations

Entry Information
Gene NameNiemann-Pick disease, type C2
Protein EntryNPC2_HUMAN
UniProt IDP61916
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P61916-1; Sequence=Displayed; Name=2; IsoId=P61916-2; Sequence=VSP_056459; Note=No experimental confirmation available.;
DiseaseNiemann-Pick disease C2 (NPC2) [MIM
FunctionIntracellular 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
InductionDown-regulated in response to enterovirus 71 (EV71) infection.
SimilarityBelongs to the NPC2 family.
Subcellular LocationSecreted . Endoplasmic reticulum . Lysosome .
SubunitInteracts with NUS1/NgBR, the interaction stabilizes NCP2 and regulates cholesterol trafficking. Interacts with DHDDS. Interacts with NPC1 (via the second lumenal domain) in a cholestrol-dependent manner (By similarity). Interacts with NEDD4L (via C2 domain) (By similarity). Interacts with NPC1L1. {ECO
Tissue SpecificityEpididymis.
Web ResourceName=Niemann-Pick type C disease gene variation database; URL="http://npc.fzk.de";