NPC1L1 (NPC1 like intracellular cholesterol transporter 1)

2018-11-01  

Identity

HGNC
LOCATION
7p13
LOCUSID
ALIAS
LDLCQ7,NPC11L1,SLC65A2

Other Information

Locus ID:

NCBI: 29881
MIM: 608010
HGNC: 7898
Ensembl: ENSG00000015520

Variants:

dbSNP: 29881
ClinVar: 29881
TCGA: ENSG00000015520
COSMIC: NPC1L1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000015520ENST00000289547Q9UHC9
ENSG00000015520ENST00000381160A0A0C4DFX6
ENSG00000015520ENST00000423141Q9UHC9
ENSG00000015520ENST00000546276A0A0C4DGG6

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Fat digestion and absorptionKEGGko04975
Fat digestion and absorptionKEGGhsa04975
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Trafficking of dietary sterolsREACTOMER-HSA-265473

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443886Diabetes MellitusDiseaseClinicalAnnotationassociatedPD19752398
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD19752398
PA446021Vascular DiseasesDiseaseClinicalAnnotationassociatedPD19752398
PA451089pravastatinChemicalClinicalAnnotationassociatedPD19752398

References

Pubmed IDYearTitleCitations
206865652010Biological, clinical and population relevance of 95 loci for blood lipids.1468
149763182004Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption.336
164493882006Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels.153
164493882006Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels.153
175711642007Hepatic Niemann-Pick C1-like 1 regulates biliary cholesterol concentration and is a target of ezetimibe.117
253904622014Inactivating mutations in NPC1L1 and protection from coronary heart disease.100
185228322008The cholesterol absorption inhibitor ezetimibe acts by blocking the sterol-induced internalization of NPC1L1.90
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
156710322005Inactivation of NPC1L1 causes multiple lipid transport defects and protects against diet-induced hypercholesterolemia.75
277016602016Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis.73

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