NPC1L1 (NPC1 like intracellular cholesterol transporter 1)

2018-11-01  

Identity

HGNC
NPC1L1
LOCATION
7p13
LOCUSID
29881
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443886Diabetes MellitusDiseaseClinicalAnnotationassociatedPD19752398
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD19752398
PA446021Vascular DiseasesDiseaseClinicalAnnotationassociatedPD19752398
PA451089pravastatinChemicalClinicalAnnotationassociatedPD19752398

References

Pubmed IDYearTitleCitations
382338302024Association of NPC1L1 and HMGCR gene polymorphisms with coronary artery calcification in patients with premature triple-vessel coronary disease.0
387136182024Cholesterol uptake in the intestine is regulated by the LASP1-AKT-NPC1L1 signaling pathway.0
382338302024Association of NPC1L1 and HMGCR gene polymorphisms with coronary artery calcification in patients with premature triple-vessel coronary disease.0
387136182024Cholesterol uptake in the intestine is regulated by the LASP1-AKT-NPC1L1 signaling pathway.0
365837552023m6A-related bioinformatics analysis and functional characterization reveals that METTL3-mediated NPC1L1 mRNA hypermethylation facilitates progression of atherosclerosis via inactivation of the MAPK pathway.3
373556342023HMGCR gene polymorphism is associated with residual cholesterol risk in premature triple-vessel disease patients treated with moderate-intensity statins.1
365837552023m6A-related bioinformatics analysis and functional characterization reveals that METTL3-mediated NPC1L1 mRNA hypermethylation facilitates progression of atherosclerosis via inactivation of the MAPK pathway.3
373556342023HMGCR gene polymorphism is associated with residual cholesterol risk in premature triple-vessel disease patients treated with moderate-intensity statins.1
331677402021Association of NPC1L1 and HMGCR Gene Polymorphisms with Major Adverse Cardiac and Cerebrovascular Events in Patients with Three-Vessel Disease.3
331887432021A new system to evaluate characteristics of Niemann-Pick C1 Like 1-mediated cholesterol transport using Xenopus laevis oocytes.0
337606622021NPC1L1-dependent transport of 27-alkyne cholesterol in intestinal epithelial cells.4
341988532021The 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
344079502021Structures of dimeric human NPC1L1 provide insight into mechanisms for cholesterol absorption.10
345111282021Expression and prognostic significance of Niemann-Pick C1-Like 1 in colorectal cancer: a retrospective cohort study.5
331677402021Association 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