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    NPC1L1 NPC1 like intracellular cholesterol transporter 1 [ Homo sapiens (human) ]

    Gene ID: 29881, updated on 5-Jan-2025

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    NPC1L1 rs217434 A > G as a Novel Single Nucleotide Polymorphism Related to Dyslipidemia in a Korean Population.

    NPC1L1 rs217434 A > G as a Novel Single Nucleotide Polymorphism Related to Dyslipidemia in a Korean Population.
    Cho D, Huang X, Han Y, Kim M.

    10/15/2024
    Cholesterol uptake in the intestine is regulated by the LASP1-AKT-NPC1L1 signaling pathway.

    Cholesterol uptake in the intestine is regulated by the LASP1-AKT-NPC1L1 signaling pathway.
    Butt E, Günder T, Stürzebecher P, Kowalski I, Schneider P, Buschmann N, Schäfer S, Bender A, Hermanns HM, Zernecke A.

    06/15/2024
    Association of NPC1L1 and HMGCR gene polymorphisms with coronary artery calcification in patients with premature triple-vessel coronary disease.

    Association of NPC1L1 and HMGCR gene polymorphisms with coronary artery calcification in patients with premature triple-vessel coronary disease.
    Li Y, Li J, Tang X, Xu J, Liu R, Jiang L, Tian J, Zhang Y, Wang D, Sun K, Xu B, Zhao W, Hui R, Gao R, Song L, Yuan J, Zhao X., Free PMC Article

    01/30/2024
    HMGCR gene polymorphism is associated with residual cholesterol risk in premature triple-vessel disease patients treated with moderate-intensity statins.

    HMGCR gene polymorphism is associated with residual cholesterol risk in premature triple-vessel disease patients treated with moderate-intensity statins.
    Li J, Tang X, Xu J, Liu R, Jiang L, Xu L, Tian J, Feng X, Wu Y, Zhang Y, Wang D, Sun K, Xu B, Zhao W, Hui R, Gao R, Song L, Yuan J, Zhao X., Free PMC Article

    06/26/2023
    m6A-related bioinformatics analysis and functional characterization reveals that METTL3-mediated NPC1L1 mRNA hypermethylation facilitates progression of atherosclerosis via inactivation of the MAPK pathway.

    m6A-related bioinformatics analysis and functional characterization reveals that METTL3-mediated NPC1L1 mRNA hypermethylation facilitates progression of atherosclerosis via inactivation of the MAPK pathway.
    Zhang G, Li X, Huang X.

    03/21/2023
    Structures of dimeric human NPC1L1 provide insight into mechanisms for cholesterol absorption.

    Structures of dimeric human NPC1L1 provide insight into mechanisms for cholesterol absorption.
    Long T, Liu Y, Qin Y, DeBose-Boyd RA, Li X., Free PMC Article

    04/23/2022
    Association of NPC1L1 and HMGCR Gene Polymorphisms with Major Adverse Cardiac and Cerebrovascular Events in Patients with Three-Vessel Disease.

    Association of NPC1L1 and HMGCR Gene Polymorphisms with Major Adverse Cardiac and Cerebrovascular Events in Patients with Three-Vessel Disease.
    Zhao X, Li J, Tang X, Liu R, Xu J, Xu L, Jiang L, Huang K, Tian J, Feng X, Wu Y, Zhang Y, Wang D, Sun K, Xu B, Zhao W, Hui R, Gao R, Song L, Yuan J.

    02/5/2022
    Expression and prognostic significance of Niemann-Pick C1-Like 1 in colorectal cancer: a retrospective cohort study.

    Expression and prognostic significance of Niemann-Pick C1-Like 1 in colorectal cancer: a retrospective cohort study.
    Kwon RJ, Park EJ, Lee SY, Lee Y, Hwang C, Kim C, Cho YH., Free PMC Article

    01/29/2022
    NPC1L1-dependent transport of 27-alkyne cholesterol in intestinal epithelial cells.

    NPC1L1-dependent transport of 27-alkyne cholesterol in intestinal epithelial cells.
    Ticho AL, Calzadilla N, Malhotra P, Lee H, Anbazhagan AN, Saksena S, Dudeja PK, Lee D, Gill RK, Alrefai WA., Free PMC Article

    07/31/2021
    The Propensity of the Human Liver to Form Large Lipid Droplets Is Associated with PNPLA3 Polymorphism, Reduced INSIG1 and NPC1L1 Expression and Increased Fibrogenetic Capacity.

    The Propensity of the Human Liver to Form Large Lipid Droplets Is Associated with PNPLA3 Polymorphism, Reduced INSIG1 and NPC1L1 Expression and Increased Fibrogenetic Capacity.
    Ferri F, Carotti S, Carpino G, Mischitelli M, Cantafora A, Molinaro A, Argenziano ME, Parisse S, Corsi A, Riminucci M, Lai Q, Mennini G, Spadetta G, Pugliese F, Rossi M, Morini S, Gaudio E, Ginanni Corradini S., Free PMC Article

    07/17/2021
    A new system to evaluate characteristics of Niemann-Pick C1 Like 1-mediated cholesterol transport using Xenopus laevis oocytes.

    A new system to evaluate characteristics of Niemann-Pick C1 Like 1-mediated cholesterol transport using Xenopus laevis oocytes.
    Nashimoto S, Yagi S, Takeda N, Nonaka M, Takekuma Y, Sugawara M, Sato Y.

    04/17/2021
    Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins.

    Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins.
    Saha P, Shumate JL, Caldwell JG, Elghobashi-Meinhardt N, Lu A, Zhang L, Olsson NE, Elias JE, Pfeffer SR., Free PMC Article

    03/20/2021
    Selective Ah receptor modulators attenuate NPC1L1-mediated cholesterol uptake through repression of SREBP-2 transcriptional activity.

    Selective Ah receptor modulators attenuate NPC1L1-mediated cholesterol uptake through repression of SREBP-2 transcriptional activity.
    Muku GE, Kusnadi A, Kuzu G, Tanos R, Murray IA, Gowda K, Amin S, Perdew GH., Free PMC Article

    09/26/2020
    Nonglucuronidated Ezetimibe Disrupts CD13- and CD64-Coassembly in Membrane Microdomains and Decreases Cellular Cholesterol Content in Human Monocytes/Macrophages.

    Nonglucuronidated Ezetimibe Disrupts CD13- and CD64-Coassembly in Membrane Microdomains and Decreases Cellular Cholesterol Content in Human Monocytes/Macrophages.
    Orsó E, Robenek H, Boettcher A, Wolf Z, Liebisch G, Kramer W, Schmitz G.

    08/22/2020
    Hepatic NPC1L1 exacerbates diet-induced steatosis, which was accompanied by decreased hepatic ability of VLDL-TG secretion. The obtained results provide a deeper understanding of L1-Tg mice as a promising NAFLD animal model that is able to re-absorb biliary-secreted cholesterol similar to humans

    Pathophysiological importance of bile cholesterol reabsorption: hepatic NPC1L1-exacerbated steatosis and decreasing VLDL-TG secretion in mice fed a high-fat diet.
    Toyoda Y, Takada T, Yamanashi Y, Suzuki H., Free PMC Article

    06/6/2020
    The rs2073547 polymorphism of NPC1L1 may be related to type 2 diabetes mellitus susceptibility in the Chinese population.

    The Niemann-Pick C1-like 1 rs2073547 polymorphism is associated with type 2 diabetes mellitus in a Chinese population.
    Huang Z, Tan R, Meng L, Yang H, Liang X, Qin Y, Luo Z., Free PMC Article

    03/21/2020
    Hepatic expression of human NPC1L1 resulted in an inhibition of autophagy; it may contribute to alcoholic fatty liver disease in humans.

    Hepatic NPC1L1 overexpression attenuates alcoholic autophagy in mice.
    Wang Y, Yang P, Zhang B, Ding Y, Lei S, Hou Y, Guan X, Li Q., Free PMC Article

    02/8/2020
    Duodenal NPC1L1 expression was decreased in NAFLD and was negatively correlated with LXR expression in peripheral mononuclear cells.

    Duodenal Niemann-Pick C1-like 1 expression was negatively correlated with liver X receptor expression in nonalcoholic fatty liver disease.
    Ahn SB, Jun DW, Jang K, Lee BH, Shin KJ., Free PMC Article

    02/1/2020
    TGIF1 represses Niemann-Pick C1 like 1 (Npc1l1) promoter activity in intestines, lowering intestinal cholesterol absorption.

    Overexpression of transforming growth factor β induced factor homeobox 1 represses NPC1L1 and lowers markers of intestinal cholesterol absorption.
    Parini P, Melhuish TA, Wotton D, Larsson L, Ahmed O, Eriksson M, Pramfalk C.

    10/26/2019
    The variants of NPC1L1studied here had minor influence on serum noncholesterol sterolsand cholesterol metabolism.

    Genetic polymorphism of sterol transporters in children with future gallstones.
    Nissinen MJ, Pitkänen N, Simonen P, Gylling H, Viikari J, Raitakari O, Lehtimäki T, Juonala M, Pakarinen MP.

    02/2/2019
    The results obtained from liver-specific NPC1L1 transgenic mouse (L1-Tg) crossed with LDLR-/- mouse indicated no feedback mechanism to inhibit NPC1L1 function in liver and hepatic expression of NPC1L1 correlated with VLDL secretion in hypercholesterolemia state.

    Hepatic NPC1L1 promotes hyperlipidemia in LDL receptor deficient mice.
    Wang Y, Tang W, Yang P, Shin H, Li Q.

    10/13/2018
    Lifelong, genetic inhibition of NPC1L1, mimicking treatment with ezetimibe, does not associate with risk of cancer.

    Using genetics to explore whether the cholesterol-lowering drug ezetimibe may cause an increased risk of cancer.
    Kobberø Lauridsen B, Stender S, Frikke-Schmidt R, Nordestgaard BG, Tybjærg-Hansen A.

    08/11/2018
    Due to their high affinity for the N-terminal domain of NPC1L1, black and cowpea bean peptides produced in the digestive track have the potential to disrupt interactions between NPC1L1 and membrane proteins that lead to cholesterol absorption

    Bean peptides have higher in silico binding affinities than ezetimibe for the N-terminal domain of cholesterol receptor Niemann-Pick C1 Like-1.
    Real Hernandez LM, Gonzalez de Mejia E.

    12/2/2017
    These experiments demonstrate that cholesterol uptake by NPC1L1 does not require endocytosis; moreover, ezetimibe interferes with NPC1L1's cholesterol adsorption activity without blocking NPC1L1 internalization in RH7777 cells.

    Ezetimibe-sensitive cholesterol uptake by NPC1L1 protein does not require endocytosis.
    Johnson TA, Pfeffer SR., Free PMC Article

    07/29/2017
    Novel sequencing techniques are detecting rare variants with larger effect sizes (eg, NPC1L1) , which may further improve on Cardiovascular disease risk prediction.

    Impact of a Genetic Risk Score on Myocardial Infarction Risk Across Different Ethnic Populations.
    Joseph PG, Pare G, Asma S, Engert JC, Yusuf S, Anand SS, INTERHEART Investigators.

    07/22/2017
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