LMPD Database

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LMP001283

UniProt Annotations

Entry Information
Gene NameNPC1-like 1
Protein EntryQ9UHC9_HUMAN
UniProt IDQ9UHC9
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UHC9-1; Sequence=Displayed; Name=2; Synonyms=NPC1L1DELTAE15; IsoId=Q9UHC9-2; Sequence=VSP_015314; Name=3; Synonyms=NPCL1T; IsoId=Q9UHC9-3; Sequence=VSP_015312, VSP_015313; Name=4; IsoId=Q9UHC9-4; Sequence=VSP_054503, VSP_015314; Note=No experimental confirmation available.;
FunctionPlays a major role in cholesterol homeostasis. Is critical for the uptake of cholesterol across the plasma membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol absorption. Lack of activity leads to multiple lipid transport defects. 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.
InductionExpression is decreased in Caco-2 cells upon PPARD activation.
PolymorphismVariations in NPC1L1 gene could be associated with non-response to ezetimibe treatment.
PtmHighly glycosylated.
SimilarityBelongs to the patched family.
SimilarityContains 1 SSD (sterol-sensing) domain.
Subcellular LocationApical cell membrane ; Multi-pass membrane protein {ECO
SubunitInteracts with RAB11A, MYO5B and RAB11FIP2. Interaction with RAB11A, MYO5B and RAB11FIP2 is required for proper transport to the plasma membrane upon cholesterol depletion. Interacts with NPC2.
Tissue SpecificityWidely expressed. Expressed in liver. Also expressed in small intestine, pancreas, kidney, lung, pancreas, spleen, heart, gall bladder, brain, testis, stomach and muscle. {ECO