NPC1L1 - NPC1 like intracellular cholesterol transporter 1 Gene

Homo sapiens

Also known as LDLCQ7; NPC11L1; SLC65A2

Gene ID: 29881 | Gene type: protein coding

About NPC1L1

Cytogenetic location: 7p13 Genomic coordinates (GRCh38): 7:44,512,535-44,541,330 (from NCBI)

This gene has 4 transcripts (splice variants), 190 orthologues, 10 paralogues and is associated with 2 phenotypes. Biased expression in duodenum (RPKM 24.2), small intestine (RPKM 22.9) and 2 other tissues.

Summary

The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in Other proteins. This protein takes up free Cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal Cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal Cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total Cholesterol and low-density lipoprotein Cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

NPC1L1 Products(3)

mRNA	Protein	Name
NM_001101648.2	NP_001095118.1	NPC1-like intracellular cholesterol transporter 1 isoform 2 precursor
NM_001300967.2	NP_001287896.1	NPC1-like intracellular cholesterol transporter 1 isoform 3 precursor
NM_013389.3	NP_037521.2	NPC1-like intracellular cholesterol transporter 1 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cholesterol binding	IDA IDA: Inferred from direct assay	21602275	GOA
enables myosin V binding	IPI IPI: Inferred from physical interaction	19542231	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19542231	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	34407950	GOA
enables small GTPase binding	IPI IPI: Inferred from physical interaction	19542231	GOA
enables vitamin E binding	IDA IDA: Inferred from direct assay	28315682	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to sterol depletion	IDA IDA: Inferred from direct assay	19325169	GOA
involved in cholesterol biosynthetic process	IMP IMP: Inferred from mutant phenotype	17140581	GOA
involved in cholesterol transport	IMP IMP: Inferred from mutant phenotype	17140581	GOA
involved in intestinal cholesterol absorption	IMP IMP: Inferred from mutant phenotype	17140581	GOA
involved in lipoprotein metabolic process	IMP IMP: Inferred from mutant phenotype	17140581	GOA
involved in vitamin E metabolic process	IDA IDA: Inferred from direct assay	28315682	GOA
involved in vitamin transport	IDA IDA: Inferred from direct assay	18403720	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	19325169	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NPC1L1 Protein Structure

Sterol-sensing

Patched

0
300
600
900
1200
1359 a.a.

Protein Preferred Names

Protein Names

NPC1-like intracellular cholesterol transporter 1

NPC1 (Niemann-Pick disease, type C1, gene)-like 1

Related Diseases

Diseases

Alias

Low Density Lipoprotein Cholesterol Level Quantitative Trait Locus 7

LDLCQ7	Low Density Lipoprotein Cholesterol Level Qtl 7
Ezetimibe, Nonresponse To

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis	Niemann-Pick Diseases
Lipoid Histiocytosis	Sphingomyelin Lipidosis
Sphingomyelinase Deficiency Disease	Lipid Histiocytosis
Neuronal Cholesterol Lipidosis	Neuronal Lipidosis
Npd	Sphingomyelinase Deficiency
Niemann-Pick Disease, Type A

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C	NPC1
Niemann-Pick Disease, Type D	Niemann-Pick Disease Type C1
Niemann-Pick Disease With Cholesterol Esterification Block	Niemann-Pick Disease, Subacute Juvenile Form
Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia	Npc
Niemann-Pick Disease, Chronic Neuronopathic Form	Niemann-Pick Disease Without Sphingomyelinase Deficiency
Niemann-Pick Disease Type C	Niemann-Pick Disease Type D
Niemann-Pick C1 Disease	Niemann-Pick Disease C1
Niemann-Pick Disease Chronic Neuronopathic Form	Niemann-Pick Disease Nova Scotian Type
Niemann-Pick Disease Subacute Juvenile Form	Niemann-Pick Disease Type Ii
Niemann-Picks Disease Type C

Sitosterolemia

Phytosterolemia	Beta-Sitosterolemia
Plant Sterol Storage Disease	Phytosterolæmia
Sitosterolæmia	Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body
Phytosterolaemia	Sitosterolaemia
Sitosterolemia With Xanthomatosis

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Cholesterol Ester Storage Disease

Hypercholesterolemia, Familial, 4

Hypercholesterolemia, Autosomal Recessive	Arh
FHCL4	Autosomal Recessive Hypercholesterolemia
Arh1	Arh2
Autosomal Recessive Hypercholesterolemia 1	Autosomal Recessive Hypercholesterolemia 2
Fhcb1	Fhcb2
Hypercholesterolemia, Autosomal Recessive, 1, Formerly	Arh1, Formerly
Fhcb1, Formerly	Hypercholesterolemia, Autosomal Recessive, 2, Formerly
Arh2, Formerly	Fhcb2, Formerly
Familial Autosomal Recessive Hypercholesterolemia	Hypercholesterolemia, Familial, Autosomal Recessive
Hypercholesterolemia, Familial, Type 4

Platelet Glycoprotein Iv Deficiency

Platelet-Type Bleeding Disorder 10	Bdplt10
Cd36 Deficiency	Bleeding Disorder, Platelet-Type, 10
PG4D	Bleeding Disorder Platelet-Type 10
Deficiency, Platelet Glycoprotein Iv

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia	Familial Hyperbetalipoproteinaemia
Familial Hypercholesteremia	Fredrickson Type Iia Hyperlipoproteinemia
Fredrickson Type Iia Lipidaemia	Hyperbetalipoproteinemia
Type Ii Hyperlipidemia	Familial Hypercholesterolæmia
Familial Hypercholesterolaemia	Fh
Hypercholesterolemia Familial	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial

Lipid Metabolism Disorder

Dyslipidemia	Disorder Of Fatty Acid Metabolism
Lipid Metabolism Disorders	Fatty Acid Metabolism Disorder
Disorder Of Lipid Metabolism	Abnormality Of Lipid Metabolism
Lipid Metabolism, Inborn Errors	Dyslipidemias
Disorders Of Lipid Metabolism	Congenital Disorders Of Lipid Metabolism
Inherited Disorders Of Lipid Metabolism

Diabetes Mellitus

Diabetes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-17376	Ezetimibe		99.72%	Yes

Clinical Phase

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P99362	Ensituximab	Inhibitor	95.00%	Phase 2

Pre-clinical Phase

Bioactive Molecules (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-133114	Ezetimibe ketone	Activator	99.97%	Unkown
HY-17640	Nicodicosapent	Inhibitor	99.79%	Unkown
HY-17376S	Ezetimibe-d4		98.14%	Unkown
HY-17376S1	Ezetimibe-d4-1		99.26%	Unkown
HY-17376R	Ezetimibe (Standard)		99.90%	Unkown
HY-135388	ent-Ezetimibe		/	Unkown
HY-136059	Desfluoro-ezetimibe	Activator	/	Unkown
HY-160882	EBOV-IN-7		/	Unkown
HY-RS09475	NPC1L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-121315	BRD4097	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NPC1L1	RGD	RGD:1303135
Mus musculus	NPC1L1	MGD	MGI:2685089
Bos taurus	NPC1L1	VGNC	VGNC:32195
Felis catus	NPC1L1	VGNC	VGNC:68529
Canis familiaris	NPC1L1	VGNC	VGNC:110520
Macaca mulatta	NPC1L1	VGNC	VGNC:75381

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