Gene Symbol | NPC1L1 |
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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 Antibody - 5058 from Cell Signaling Technology
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NPC1L1 (G-1) - sc-166802 from Santa Cruz Biotechnology
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NPC1L1 (H-240) - sc-67236 from Santa Cruz Biotechnology
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NPC1L1 (N-13) - sc-49063 from Santa Cruz Biotechnology
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NPC1L1 (M-220) - sc-67237 from Santa Cruz Biotechnology
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Anti-Niemann Pick C1 Like 1 antibody - ab121000 from Abcam
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Anti-Niemann Pick C1 Like 1 antibody [EPR5717] - ab124801 from Abcam
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Anti-Niemann Pick C1 Like 1 antibody - N-terminal - ab156410 from Abcam
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Anti-NPC1L1 Antibody (Internal, clone EPR5717) - LS-C138967 from LifeSpan Bioscience
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Anti-NPC1L1 Antibody (aa1000-1100) IHC-plus⢠- LS-B88 from LifeSpan Bioscience
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Anti-NPC1L1 Antibody (aa500-600) IHC-plus™ - LS-B506 from LifeSpan Bioscience
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Anti-NPC1L1 Antibody (Internal) IHC-plus⢠- LS-B9450 from LifeSpan Bioscience
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Anti-NPC1L1 Antibody (Internal) - LS-C73566 from LifeSpan Bioscience
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Anti-NPC1L1 Antibody (Internal, HRP) - LS-C142067 from LifeSpan Bioscience
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Anti-NPC1L1 Antibody (Internal, DY550) - LS-C142068 from LifeSpan Bioscience
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Anti-NPC1L1 Antibody - LS-C131053 from LifeSpan Bioscience
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Anti-NPC1L1 Antibody (Internal, Biotin) - LS-C142069 from LifeSpan Bioscience
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Anti-NPC1L1 Antibody (Internal, DY650) - LS-C142070 from LifeSpan Bioscience
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Anti-NPC1L1 Antibody (Internal, Biotin) - LS-C142172 from LifeSpan Bioscience
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Anti-NPC1L1 Antibody (Internal, DY650) - LS-C142173 from LifeSpan Bioscience
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Anti-NPC1L1 Antibody (Internal, DY488) - LS-C142175 from LifeSpan Bioscience
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Anti-NPC1L1 Antibody (Internal, DY488) - LS-C142174 from LifeSpan Bioscience
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Anti-NPC1L1 Antibody (Internal, DY550) - LS-C142177 from LifeSpan Bioscience
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Anti-NPC1L1 Antibody (Internal, HRP) - LS-C142176 from LifeSpan Bioscience
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Anti-NPC1L1 Antibody (aa1288-1300) - LS-C154844 from LifeSpan Bioscience
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