NPC1L1 - NPC1 like intracellular cholesterol transporter 1 Gene

Also Known as LDLCQ7; NPC11L1; SLC65A2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 29881

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	Références	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	Références	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	Références	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

NPC1L1 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P81911	Niemann Pick C1 Like 1 Antibody (YA1656)	WB	Human

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
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-17376	Ezetimibe		99.95%	Yes

Clinical Phase

Inhibitory Antibodies (1)

Cat. No.	Nom du produit	Effect	Pureté	Phase
HY-P99362	Ensituximab	Inhibitor	99.93%	Phase 2

Pre-clinical Phase

Bioactive Molecules (14)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-113315	3b-Hydroxy-5-cholenoic acid		99.93%	Unkown
HY-17376S	Ezetimibe-d4		98.84%	Unkown
HY-136059	Desfluoro-ezetimibe	Activator	99.54%	Unkown
HY-17376R	Ezetimibe (Standard)		99.90%	Unkown
HY-17640	Nicodicosapent	Inhibitor	99.79%	Unkown
HY-17376S1	Ezetimibe-d4-1		99.26%	Unkown
HY-135388	ent-Ezetimibe		/	Unkown
HY-160882	EBOV-IN-7		/	Unkown
HY-17376S3	Ezetimibe-13C6		/	Unkown
HY-N18304	Brutieridin	Inhibitor	/	Unkown
HY-RS09475	NPC1L1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-121315	BRD4097	Inhibitor	/	Unkown
HY-RS17515	Npc1l1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23972	Npc1l1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	NPC1L1	NCBI