2. Gene
  3. NPC1L1 - NPC1 like intracellular cholesterol transporter 1 Gene

NPC1L1 - NPC1 like intracellular cholesterol transporter 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

NPC1L1 Protein Structure

Sterol-sensing

Sterol-sensing: Sterol-sensing domain of SREBP cleavage-activation (661 - 814)

Patched

Patched: Patched family (1101 - 1292)

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  • 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
Pre-clinical Phase
Bioactive Molecules (9)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-133114 Ezetimibe ketone Activator 99.97% Unkown
HY-17640 Nicodicosapent Inhibitor 98.04% Unkown
HY-17376S Ezetimibe-d4 98.14% Unkown
HY-17376R Ezetimibe (Standard) 99.90% Unkown
HY-17376S1 Ezetimibe-d4-1 99.25% Unkown
HY-135388 ent-Ezetimibe / Unkown
HY-136059 Desfluoro-ezetimibe Activator / Unkown
HY-17376S1R Ezetimibe-d4-1 (Standard) / Unkown
HY-RS09475 NPC1L1 Human Pre-designed siRNA Set A / 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