Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 29881
MIM: 608010
HGNC: 7898
Ensembl: ENSG00000015520
Variants:
dbSNP: 29881
ClinVar: 29881
TCGA: ENSG00000015520
COSMIC: NPC1L1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000015520 | ENST00000289547 | Q9UHC9 |
| ENSG00000015520 | ENST00000381160 | A0A0C4DFX6 |
| ENSG00000015520 | ENST00000423141 | Q9UHC9 |
| ENSG00000015520 | ENST00000546276 | A0A0C4DGG6 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443886 | Diabetes Mellitus | Disease | ClinicalAnnotation | associated | PD | 19752398 | |
| PA444552 | Hypertension | Disease | ClinicalAnnotation | associated | PD | 19752398 | |
| PA446021 | Vascular Diseases | Disease | ClinicalAnnotation | associated | PD | 19752398 | |
| PA451089 | pravastatin | Chemical | ClinicalAnnotation | associated | PD | 19752398 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38233830 | 2024 | Association of NPC1L1 and HMGCR gene polymorphisms with coronary artery calcification in patients with premature triple-vessel coronary disease. | 0 |
| 38713618 | 2024 | Cholesterol uptake in the intestine is regulated by the LASP1-AKT-NPC1L1 signaling pathway. | 0 |
| 38233830 | 2024 | Association of NPC1L1 and HMGCR gene polymorphisms with coronary artery calcification in patients with premature triple-vessel coronary disease. | 0 |
| 38713618 | 2024 | Cholesterol uptake in the intestine is regulated by the LASP1-AKT-NPC1L1 signaling pathway. | 0 |
| 36583755 | 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. | 3 |
| 37355634 | 2023 | HMGCR gene polymorphism is associated with residual cholesterol risk in premature triple-vessel disease patients treated with moderate-intensity statins. | 1 |
| 36583755 | 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. | 3 |
| 37355634 | 2023 | HMGCR gene polymorphism is associated with residual cholesterol risk in premature triple-vessel disease patients treated with moderate-intensity statins. | 1 |
| 33167740 | 2021 | Association of NPC1L1 and HMGCR Gene Polymorphisms with Major Adverse Cardiac and Cerebrovascular Events in Patients with Three-Vessel Disease. | 3 |
| 33188743 | 2021 | A new system to evaluate characteristics of Niemann-Pick C1 Like 1-mediated cholesterol transport using Xenopus laevis oocytes. | 0 |
| 33760662 | 2021 | NPC1L1-dependent transport of 27-alkyne cholesterol in intestinal epithelial cells. | 4 |
| 34198853 | 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. | 4 |
| 34407950 | 2021 | Structures of dimeric human NPC1L1 provide insight into mechanisms for cholesterol absorption. | 10 |
| 34511128 | 2021 | Expression and prognostic significance of Niemann-Pick C1-Like 1 in colorectal cancer: a retrospective cohort study. | 5 |
| 33167740 | 2021 | Association of NPC1L1 and HMGCR Gene Polymorphisms with Major Adverse Cardiac and Cerebrovascular Events in Patients with Three-Vessel Disease. | 3 |
Citation
Dessen P
NPC1L1 (NPC1 like intracellular cholesterol transporter 1)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/57667/npc1l1-(npc1-like-intracellular-cholesterol-transporter-1)
