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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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NPC1L1
NPC1 like intracellular cholesterol transporter 1
Chromosome 7 · 7p13
NCBI Gene: 29881Ensembl: ENSG00000015520.15HGNC: HGNC:7898UniProt: A0A0C4DFX6
114PubMed Papers
20Diseases
1Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingvitamin E bindingcholesterol bindingsmall GTPase bindingHypercholesterolemiahyperlipidemiafamilial hypercholesterolemiaatherosclerosis
✦AI Summary

NPC1L1 is a polytopic transmembrane protein that plays a critical role in cholesterol homeostasis by mediating the uptake of dietary cholesterol across the apical membrane of intestinal enterocytes 1. This process occurs through clathrin-mediated endocytosis and is regulated by cellular cholesterol content 1. Beyond cholesterol, NPC1L1 transports plant sterols such as sitosterol, though at lower efficiency [UniProt]. The protein also negatively regulates NPC2 by inhibiting its maturation and accelerating degradation [UniProt]. NPC1L1 is the direct molecular target of ezetimibe, an FDA-approved cholesterol absorption inhibitor 1, making it pharmaceutically relevant for treating hypercholesterolemia 2. Recent evidence reveals that downstream of NPC1L1, the Aster pathway mediates nonvesicular cholesterol transport in enterocytes, with NPC1L1 loss abolishing Aster recruitment to the brush border 3. Additionally, NPC1L1 expression is suppressed by immune-mediated pathways involving IL-10 signaling, linking gut immunity to intestinal cholesterol metabolism and atherosclerosis prevention 4. Loss of NPC1L1 function reduces cholesterol absorption and protects against diet-induced hypercholesterolemia 5, positioning it as a key target for cardiovascular disease prevention.

Sources cited
1
NPC1L1 is enriched in apical membrane of enterocytes, mediates sterol transport across brush border, is essential for intestinal sterol absorption, is the target of ezetimibe, and is regulated by cellular cholesterol content via clathrin-mediated endocytosis
PMID: 20307540
2
NPC1L1 inhibitor ezetimibe is an established pharmaceutical treatment option for hypercholesterolemia and is recommended as second-line therapy for cardiovascular prevention
PMID: 37486464
3
NPC1L1 assists in initial dietary cholesterol uptake; Aster-B and Aster-C are critical for downstream nonvesicular cholesterol movement; loss of NPC1L1 diminishes accessible plasma membrane cholesterol and abolishes Aster recruitment
PMID: 37943936
4
IL-10 signaling suppresses Npc1l1 expression in intestines; this immune-mediated pathway reduces intestinal cholesterol absorption and atherosclerotic lesion area
PMID: 34597388
5
NPC1L1 is essential for cholesterol absorption; loss of NPC1L1 function reduces cholesterol absorption and protects against diet-induced hypercholesterolemia
PMID: 29880681
Disease Associationsⓘ20
HypercholesterolemiaOpen Targets
0.73Strong
hyperlipidemiaOpen Targets
0.70Moderate
familial hypercholesterolemiaOpen Targets
0.63Moderate
atherosclerosisOpen Targets
0.55Moderate
cardiovascular diseaseOpen Targets
0.53Moderate
metabolic diseaseOpen Targets
0.49Moderate
Disorder of lipid metabolismOpen Targets
0.46Moderate
coronary artery diseaseOpen Targets
0.42Moderate
inherited lipid metabolism disorderOpen Targets
0.39Weak
type 2 diabetes mellitusOpen Targets
0.38Weak
HypertriglyceridemiaOpen Targets
0.35Weak
response to statinOpen Targets
0.35Weak
familial hyperlipidemiaOpen Targets
0.33Weak
angina pectorisOpen Targets
0.31Weak
metabolic syndromeOpen Targets
0.27Weak
hepatitis C virus infectionOpen Targets
0.26Weak
hypertensionOpen Targets
0.26Weak
myocardial infarctionOpen Targets
0.26Weak
coronary artery bypassOpen Targets
0.16Weak
neoplasmOpen Targets
0.10Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets1
EZETIMIBEApproved
Niemann-Pick C1-like protein 1 inhibitor
hyperlipidemia
Related Genes
CD81Protein interaction100%APOA1Protein interaction99%CYP7A1Protein interaction90%HMGCRProtein interaction90%SREBF2Protein interaction89%ABCA1Protein interaction79%
Tissue Expression6 tissues
Liver
100%
Ovary
1%
Lung
0%
Heart
0%
Bone Marrow
0%
Brain
0%
Gene Interaction Network
Click a node to explore
NPC1L1CD81APOA1CYP7A1HMGCRSREBF2ABCA1
PROTEIN STRUCTURE
Preparing viewer…
PDB7DFW · 2.69 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.95LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.69–0.95]
RankingsWhere NPC1L1 stands among ~20K protein-coding genes
  • #4,156of 20,598
    Most Researched114 · top quartile
  • #937of 1,025
    FDA-Approved Drug Targets1
  • #8,961of 17,882
    Most Constrained (LOEUF)0.95
Genes detectedNPC1L1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cholesterol Review: A Metabolically Important Molecule.
PMID: 33471744
Endocr Pract · 2020
1.00
2
Established and Emerging Lipid-Lowering Drugs for Primary and Secondary Cardiovascular Prevention.
PMID: 37486464
Am J Cardiovasc Drugs · 2023
0.90
3
Propionate attenuates atherosclerosis by immune-dependent regulation of intestinal cholesterol metabolism.
PMID: 34597388
Eur Heart J · 2022
0.80
4
Aster-dependent nonvesicular transport facilitates dietary cholesterol uptake.
PMID: 37943936
Science · 2023
0.70
5
Association of Lipid-Lowering Drugs With Risk of Psoriasis: A Mendelian Randomization Study.
PMID: 36696131
JAMA Dermatol · 2023
0.60