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 CRISPR/Cas9 KO Plasmid (h) - sc-401741 from Santa Cruz Biotechnology
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NPC1L1 HDR Plasmid (h) - sc-401741-HDR from Santa Cruz Biotechnology
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NPC1L1 Double Nickase Plasmid (h) - sc-401741-NIC from Santa Cruz Biotechnology
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NPC1L1 Double Nickase Plasmid (h2) - sc-401741-NIC-2 from Santa Cruz Biotechnology
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NPC1L1 CRISPR Activation Plasmid (h) - sc-401741-ACT from Santa Cruz Biotechnology
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NPC1L1 CRISPR Activation Plasmid (h2) - sc-401741-ACT-2 from Santa Cruz Biotechnology
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NPC1L1 Lentiviral Activation Particles (h) - sc-401741-LAC from Santa Cruz Biotechnology
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NPC1L1 Lentiviral Activation Particles (h2) - sc-401741-LAC-2 from Santa Cruz Biotechnology
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NPC1L1 siRNA (h) - sc-61225 from Santa Cruz Biotechnology
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NPC1L1 shRNA Plasmid (h) - sc-61225-SH from Santa Cruz Biotechnology
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NPC1L1 shRNA (h) Lentiviral Particles - sc-61225-V from Santa Cruz Biotechnology
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MISSION® esiRNA - EHU122061 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit - CKOZFN15443 from Sigma-Aldrich
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CompoZr® Knockout ZFN Kit, ZFN plasmid only - CKOZFND15443 from Sigma-Aldrich
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MISSION® 3′UTR Lenti GoClone™ - HUTR07339 from Sigma-Aldrich
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NPC1L1 siRNA (Human) - CRH9244 from Cohesion Biosciences
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Niemann-Pick type C1 Like-1 RNAi - H00029881-R02 from Novus Biologicals
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shRNA set against Human NPC1L1 (NM_013389.2) - SHH354104 from Creative biogene
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shRNA set against Human NPC1L1(NM_013389.2) - SHR017598 from Creative biogene
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Human NPC1L1 siRNA - orb269746 from Biorbyt
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NPC1L1 shRNA Plasmid (Human) - CHH9244 from Cohesion Biosciences
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NPC1L1 miRNA 3'UTR clone - MiUTR1H-06872 from Creative biogene
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NPC1L1 miRNA 3'UTR clone - MiUTR3H-09661 from Creative biogene
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