NPC1L1

Gene Symbol NPC1L1
Entrez Gene 29881
Alt Symbol NPC11L1
Species Human
Gene Type protein-coding
Description NPC1-like 1
Other Description NPC1 (Niemann-Pick disease, type C1, gene)-like 1|Niemann-Pick C1-like protein 1
Swissprots D3DVK9 A4D2J7 Q6R3Q4 Q17RV5 B7ZLE6 Q9UHC8 Q9UHC9
Accessions EAL23753 EAW61096 EAW61097 EAW61098 Q9UHC9 AF192522 AAF20396 AF192523 AAF20397 AY437865 AAR97886 AY515256 AAS56939 AY927603 BC117178 AAI17179 BC143731 BC143756 AAI43757 FJ481111 ACL18055 XM_011515326 XP_011513628 XM_011515327 XP_011513629 XM_011515328 XP_011513630 NM_001101648 NP_001095118 NM_001300967 NP_001287896 NM_013389 NP_037521
Function Plays 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. {ECO:0000269|PubMed:15928087, ECO:0000269|PubMed:22095670}.
Subcellular Location Apical cell membrane {ECO:0000269|PubMed:15671032}; Multi-pass membrane protein {ECO:0000269|PubMed:15671032}. Cell membrane {ECO:0000250}; Multi- pass membrane protein {ECO:0000250}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:15671032}; Multi-pass membrane protein {ECO:0000269|PubMed:15671032}. 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 (By similarity). According to PubMed:15671032, localizes in a subcellular vesicular compartment rich in RAB5. {ECO:0000250}.
Tissue Specificity Widely expressed. Expressed in liver. Also expressed in small intestine, pancreas, kidney, lung, pancreas, spleen, heart, gall bladder, brain, testis, stomach and muscle. {ECO:0000269|PubMed:10783261, ECO:0000269|PubMed:14976318, ECO:0000269|PubMed:15671032}.
Top Pathways Fat digestion and absorption

NPC1L1 overexpression lysate - LY415611 from Acris Antibodies

Category Cell Lysate
Prices $480.00
Sizes 100 µg

Niemann-Pick type C1 Like-1 Overexpression Lysate (Native) - NBP2-10341 from Novus Biologicals

Category Cell Lysate
Prices $529.00
Sizes 100 µg
Western Blot: Niemann-Pick type C1 Like-1 Overexpression Lysate (Adult Normal) [NBP2-10341] Left-Empty vector transfected control cell lysate (HEK293 cell lysate); Right -Over-expression Lysate for Niemann-Pick type C1 Like-1.

Panoply™ Human NPC1L1 Knockdown Stable Cell Line - CSC-DC010541 from Creative biogene

Category Cell Line
Species Human
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