AutismKB 2.0

Annotation Detail for NPC1L1


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Basic Information Top
Gene Symbol:NPC1L1 ( NPC11L1 )
Gene Full Name: NPC1 (Niemann-Pick disease, type C1, gene)-like 1
Band: 7p13
Quick LinksEntrez ID:29881; OMIM: 608010; Uniprot ID:NPCL1_HUMAN; ENSEMBL ID: ENSG00000015520; HGNC ID: 7898
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
Metabolism of lipids and lipoproteins
No data
No data
Pathway IDPathway Name
500794Trafficking of dietary sterols
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1936Hypercholesterolemia
1972Histiocytosis
2126Encephalopathies
Desease Name
cholesterol, LDL
PHARMACOGENOMIC
No data
Desease Name
Ezetimibe, nonresponse to
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D002784 Cholesterol [Cholesterol deficiency co-treated with Dietary Fats] results in decreased expression of NPC1L1 mRNAaffects cotreatment|decreases expression 18356535
D004041 Dietary Fats [Cholesterol deficiency co-treated with Dietary Fats] results in decreased expression of NPC1L1 mRNAaffects cotreatment|decreases expression 18356535
C108606 ezetimibe ezetimibe results in decreased expression of NPC1L1 mRNAdecreases expression 16177187
C108606 ezetimibe NPC1L1 exon SNP results in decreased susceptibility to ezetimibedecreases response to substance 15679830
D005231 Fatty Acids, Unsaturated Fatty Acids, Unsaturated results in decreased expression of NPC1L1 mRNAdecreases expression 18356535
C473027 GW 3965 GW 3965 results in decreased expression of NPC1L1 mRNAdecreases expression 15633131
C058305 phenethyl isothiocyanate phenethyl isothiocyanate results in increased expression of NPC1L1 mRNAincreases expression 17616710
D013261 Sterols NPC1L1 protein affects the import of Sterolsaffects import 15737409
D013662 Tea Tea results in increased expression of NPC1L1 mRNAincreases expression 19193814
C009564 trilinolein trilinolein results in decreased expression of NPC1L1 mRNAdecreases expression 18356535
C101314 trilinolenin trilinolenin results in decreased expression of NPC1L1 mRNAdecreases expression 18356535
D014304 Triolein Triolein results in decreased expression of NPC1L1 mRNAdecreases expression 18356535
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D001161 Arteriosclerosis Dietary Fats 4.0615238619
MESH:D050197 Atherosclerosis Cholesterol 4.3216632123
MESH:D001943 Breast Neoplasms Dietary Fats 2.2720435547
MESH:D003093 Colitis, Ulcerative phenethyl isothiocyanate 3.6920423518
MESH:D056486 Drug-Induced Liver Injury Tea 4.1119370779
MESH:D050171 Dyslipidemias Dietary Fats 3.5518367378
MESH:D005234 Fatty Liver Dietary Fats 3.3817967931 18296743 19004024 19551842
MESH:D005355 Fibrosis Dietary Fats 3.7018296743
MESH:D006937 Hypercholesterolemia Cholesterol 16.5716933029
MESH:D006937 Hypercholesterolemia Dietary Fats 16.5721332399
MESH:D006937 Hypercholesterolemia ezetimibe 16.5717076980 15374793
MESH:D006949 Hyperlipidemias Dietary Fats 3.7621332399
MESH:D006951 Hyperlipoproteinemias Fatty Acids, Unsaturated 6.3818435438
MESH:D007249 Inflammation Dietary Fats 2.4920412841
MESH:D007333 Insulin Resistance Dietary Fats 3.1911836018 18457598
MESH:D007859 Learning Disorders Cholesterol 5.2717134702
MESH:D008103 Liver Cirrhosis Dietary Fats 2.9518296743
MESH:D052556 Niemann-Pick Disease, Type C Cholesterol 5.889802331 20557099
MESH:D009765 Obesity Dietary Fats 2.3120132043 17217161 18457598 21332399 11836018 19632207 16723640 18674790 20518802
MESH:D013733 Testicular Diseases phenethyl isothiocyanate 5.1415864552
MESH:D015430 Weight Gain Dietary Fats 3.8616723640
Pathway ID Pathway Name
KEGG:04975 Fat digestion and absorption
REACT:22258 Metabolism of lipids and lipoproteins
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA31699
    • Releated gene ID Related gene Name
    PA26107CAV1
    PA31699NPC1L1
    Releated disease ID Related disease Name
    PA443425Arteriosclerosis
    PA443796Coronary Artery Disease
    PA444516Hypercholesterolemia
    PA153619780Sitosterolemia
    PA444528Hyperlipidemias
    Releated drug ID Related drug Name
    PA449594fenofibrate
    PA10816ezetimibe
    PA10816ezetimibe
    PA134308647rosuvastatin
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00973 antagonist Inegy Anticholesteremic Agents;Cholesterol Absorption Inhibitors
    No data
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    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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