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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NPC1L1 Gene

protein-coding   GIFtS: 62
GCID: GC07M044552

NPC1-like 1

(Previous names: NPC1 (Niemann-Pick disease, type C1, gene)-like 1 )
 Explore 11 diseases affiliated with
NPC1L1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NPC1L1    

Aliases
for NPC1L1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
NPC1-Like 11 2
NPC1 (Niemann-Pick Disease, Type C1, Gene)-Like 11 2
NPC11L12
Niemann-Pick C1-Like Protein 12

External Ids:    HGNC: 78981   Entrez Gene: 298812   Ensembl: ENSG000000155207   OMIM: 6080105   UniProtKB: Q9UHC93   

Export aliases for NPC1L1 gene to outside databases

Previous GC identifers: GC07M044198 GC07M044292 GC07M044325 GC07M044518 GC07M044436


Summaries
for NPC1L1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NPC1L1:
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)

UniProtKB/Swiss-Prot: NPCL1_HUMAN, Q9UHC9
Function: Plays a major role in cholesterol homeostasis. Is critical for the uptake of cholesterol across the plasma
membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol
absorbtion. Lack of activity leads to multiple lipid transport defects. The protein may have a function in the
transport of multiple lipids and their homeostasis, and may play a critical role in regulating lipid metabolism. Acts
as a negative regulator of NPC2 and down-regulates its expression and secretion by inhibiting its maturation and
accelerating its degradation




Genomic Views
for NPC1L1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NPC1L1 gene promoter:
         SREBP-1a   SREBP-1c   SEF-1 (1)   CUTL1   AP-4   SREBP-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NPC1L1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NPC1L1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NPC1L1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p13   Ensembl cytogenetic band:  7p13   HGNC cytogenetic band: 7p13

NPC1L1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPC1L1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M044552:  view genomic region     (about GC identifiers)

Start:
 44,552,134 bp from pter      End:
 44,580,914 bp from pter
Size:
 28,781 bases      Orientation:
 minus strand

1 alternative location:
Chr7-,CRA_TCAG 44,591,658-44,620,428     

Proteins
for NPC1L1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: NPCL1_HUMAN, Q9UHC9 (See protein sequence)
Recommended Name: Niemann-Pick C1-like protein 1 precursor  
Size: 1359 amino acids; 148728 Da
Subunit: Interacts with RAB11A, MYO5B and RAB11FIP2. Interaction with RAB11A, MYO5B and RAB11FIP2 is required for
proper transport to the plasma membrane upon cholesterol depletion. Interacts with NPC2
Subcellular location: Apical cell membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein (By
similarity). Cytoplasmic vesicle membrane; Multi-pass membrane protein. Note=Subfractionation of brush border
membranes from proximal enterocytes suggests considerable association with the apical membrane fraction. Exists as a
predominantly cell surface membrane expressed protein (By similarity). According to PubMed:15671032, localizes in a
subcellular vesicular compartment rich in RAB5
1 PDB 3D structure from and Proteopedia for NPC1L1:
3QNT (3D)    
Secondary accessions: A4D2J7 D3DVK9 Q17RV5 Q6R3Q4 Q9UHC8
Alternative splicing: 3 isoforms:  Q9UHC9-1   Q9UHC9-2   Q9UHC9-3   

Explore the universe of human proteins at neXtProt for NPC1L1: NX_Q9UHC9

Post-translational modifications:

  • Highly glycosylated (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UHC9

    • NPC1L1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001095118.1  NP_037521.2  

    ENSEMBL proteins: 
     ENSP00000289547   ENSP00000370552   ENSP00000404670   ENSP00000438033  
    Reactome Protein details: Q9UHC9
    Human Recombinant Protein Products: 
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    Novus Biologicals NPC1L1 Proteins
    Novus Biologicals NPC1L1 Lysate
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    Uscn Proteins for NPC1L1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IDA19325169
    GO:0016324apical plasma membrane IEA--
    GO:0030659cytoplasmic vesicle membrane IEA--


    NPC1L1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for NPC1L1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NPC1L1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR003392 Patched
     IPR000731 SSD

    Graphical View of Domain Structure for InterPro Entry Q9UHC9

    ProtoNet protein and cluster: Q9UHC9

    1 Blocks protein family: IPB003392 Patched family

    UniProtKB/Swiss-Prot: NPCL1_HUMAN, Q9UHC9
    Similarity: Belongs to the patched family
    Similarity: Contains 1 SSD (sterol-sensing) domain


    Function
    for NPC1L1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: NPCL1_HUMAN, Q9UHC9
    Function: Plays a major role in cholesterol homeostasis. Is critical for the uptake of cholesterol across the plasma
    membrane of the intestinal enterocyte. Is the direct molecular target of ezetimibe, a drug that inhibits cholesterol
    absorbtion. Lack of activity leads to multiple lipid transport defects. The protein may have a function in the
    transport of multiple lipids and their homeostasis, and may play a critical role in regulating lipid metabolism. Acts
    as a negative regulator of NPC2 and down-regulates its expression and secretion by inhibiting its maturation and
    accelerating its degradation
    Induction: Expression is decreased in Caco-2 cells upon PPARD activation

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008158hedgehog receptor activity IEA--
    GO:0017137Rab GTPase binding IPI19542231
    GO:0031489myosin V binding IPI19542231


    NPC1L1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for NPC1L1:
     Decreased circadian period len 

    Animal Models:
         Mouse knock-out Npc1l1tm1Yaio for NPC1L1
         5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Npc1l1):
     digestive/alimentary  endocrine/exocrine gland  growth/size  homeostasis/metabolism  liver/biliary system 

    NPC1L1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NPC1L1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    2Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00
    3Trafficking of dietary sterols
    		Trafficking of dietary sterols1.00
    4Vitamin A and carotenoid metabolism
    		Vitamin A and carotenoid metabolism1.00
    5Lipoprotein metabolism
    		Lipid digestion, mobilization, and transport0.56

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for NPC1L1
        Glucose / Energy Metabolism

    1 BioSystems Pathway for NPC1L1 
        Vitamin A and carotenoid metabolism

    4        Reactome Pathways for NPC1L1
        Lipid digestion, mobilization, and transport
    Trafficking of dietary sterols
    Metabolism
    Metabolism of lipids and lipoproteins


    1         Kegg Pathway  (Kegg details for NPC1L1):
        Fat digestion and absorption


    NPC1L1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NPC1L1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for NPC1L1 (Q9UHC93 ENSP000002895474) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    SHC1P293533I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process TAS--
    GO:0006695cholesterol biosynthetic process IMP17140581
    GO:0015918sterol transport TAS--
    GO:0030299intestinal cholesterol absorption IMP17140581
    GO:0030301cholesterol transport IMP17140581


    NPC1L1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NPC1L1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NPC1L1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NPC1L1

    1 DrugBank Compound for NPC1L1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Ezetimibe-- 163222-33-1targetinhibitor15679830 15928087 14976318 11752352 15737409 15992510

    6 Novoseek chemical compound relationships for NPC1L1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ezetimibe 89.2 29 18682566 (6), 18718997 (2), 15737409 (2), 17473178 (2) (see all 13)
    sterol 78.2 18 15737409 (2), 17473178 (2), 15342687 (2), 19907422 (1) (see all 10)
    cholesterol 68.2 100 18460917 (8), 19963159 (5), 17726195 (5), 17473178 (4) (see all 29)
    lovastatin 53.8 1 19963159 (1)
    lipid 39.1 4 19752398 (1), 18718997 (1), 16177187 (1)
    atp 16.1 2 18276831 (1), 18641716 (1)

    Search CenterWatch for drugs/clinical trials and news about NPC1L1 / NPCL1 

    Transcripts
    for NPC1L1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for NPC1L1 gene (2 alternative transcripts): 
    NM_001101648.1  NM_013389.2  

    Unigene Cluster for NPC1L1:

    NPC1-like 1
    Hs.567486  [show with all ESTs]
    Unigene Representative Sequence: AF192522
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000289547(uc003tla.3 uc003tlb.3 uc003tlc.3 uc011kbw.2)
    ENST00000381160 ENST00000423141(uc003tld.3) ENST00000546276

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate NPC1L1:
    hsa-miR-1266
    SwitchGear 3'UTR luciferase reporter plasmid: NPC1L1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: NPC1L1
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NPC1L1
    Clone
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    Primer
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    Additional cDNA sequence: 

    AF192522.1 AF192523.1 AY437865.1 AY515256.1 AY927603.1 BC117178.1 BC143731.1 BC143756.1 
    FJ481111.1 

    3 DOTS entries:

    DT.97779086  DT.442842  DT.121124472 

    24/40 AceView cDNA sequences (see all 40):

    BM052741 AF192522 NM_013389 AA345201 BM053074 AA294962 CK903957 AY437865 
    BM052778 BM053036 AF192523 AY515256 AI702394 CD624965 CD624967 CD624960 
    AV655352 BM931539 CD624959 BX090805 BV188386 CD624957 CD624955 CD624962 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NPC1L1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b
    SP1:                                                        -                                                                                 
    SP2:                                                        -                                         -                                       
    SP3:                                            -                                                                                             


    ECgene alternative splicing isoforms for NPC1L1

    Expression
    for NPC1L1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NPC1L1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACTGCAGTG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NPC1L1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (Generation and expan...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See NPC1L1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NPC1L1

    SOURCE GeneReport for Unigene cluster: Hs.567486

    UniProtKB/Swiss-Prot: NPCL1_HUMAN, Q9UHC9
    Tissue specificity: Widely expressed. Expressed in liver. Also expressed in small intestine, pancreas, kidney, lung,
    pancreas, spleen, heart, gall bladder, brain, testis, stomach and muscle

        SABiosciences Expression via Pathway-Focused PCR Array including NPC1L1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for NPC1L1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NPC1L1 gene from 4/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1003294291 Niemann-Pick C1-like protein 1-like 58.99(n)
    55.06(a)    		   100329429  XM_002663184.2  XP_002663230.2 
    worm
    (Caenorhabditis elegans)    		 Secernentea npc-13
    ncr-11    		 Protein NCR-11 27(a)
    (best of 2)3
    42.53(n)1
    30.02(a)1    		   1807191  NM_076370.21  NP_508771.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT4G383506
    AT1G424706
    		 Niemann-Pick C1 protein
    		 31(a)
    30(a)
    		 many ↔ many
    many ↔ many
    		 4(17958177-17966962)
    1(15926987-15935208)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 niemann-Pick C1 protein precursor, putative, expre...
    		 27(a)
    		 1 → many
    		 4(28039361-28055686)


    ENSEMBL Gene Tree for NPC1L1 (if available)
    TreeFam Gene Tree for NPC1L1 (if available) 

    Paralogs
    for NPC1L1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NPC1L1 gene
    PTCH12  NPC12  PTCHD32  PTCH22  PTCHD12  PTCHD42  
    2 SIMAP similar genes for NPC1L1 using alignment to 2 protein entries:     NPCL1_HUMAN (see all proteins):
    PTCH    NPC1

    NPC1L1 for paralogs           About GeneDecksing



    Genomic Variants
    for NPC1L1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: NPCL1_HUMAN, Q9UHC9
    Polymorphism: Variations in NPC1L1 gene could be associated with non-response to ezetimibe treatment


    10/602 NCBI SNPs in NPC1L1 are shown (see all 602)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs528150631,2
    		C,F,drug-response44595223(-) CACCAT/ACTCTA 4 /N /I mis14Minor allele frequency- A:0.01NA EU 5445
    rs1194579681,2
    		Cdrug-response44619347(-) CCAACA/G/TTGTCC 6 M V L mis11NA 4552
    rs78082951,2
    		C,A,--44456808(+) aactcC/Tgtctc 2 -- int11Minor allele frequency- T:0.50NA 2
    rs1487757071,2
    		--44551643(+) CAAAGA/CAACAG 2 -- ds50010--------
    rs1850021401,2
    		--44551714(+) GGAATC/GTTCCT 2 -- ds50010--------
    rs1902429731,2
    		--44551799(+) TTGAAA/TGCACC 2 -- ds50010--------
    rs1479586471,2
    		--44552044(+) TCACTC/GTCCCA 2 -- ds50010--------
    rs2021888701,2
    		--44552092(+) AAACC-/GAGAGGA 2 -- ds50010--------
    rs671768301,2
    		C,--44552094(+) ACCGA-/GAGGAGGA 2 -- ds50010--------
    rs1930902541,2
    		--44552210(+) TTCATC/GCTTCT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for NPC1L1 (44552134 - 44580914 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for NPC1L1
         1 CNV: 52230
    Human Gene Mutation Database (HGMD): NPC1L1

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NPC1L1
    DNA2.0 Custom Variant and Variant Library Synthesis for NPC1L1

    Disorders / Diseases
    for NPC1L1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NPC1L1 for disorders           About GeneDecksing

    OMIM gene information: 608010    OMIM disorders: --

    11 diseases for NPC1L1:    About MalaCards
    niemann-pick disease type c1    niemann-pick disease    coronary heart disease    pick's disease
    ezetimibe, nonresponse to    cholesterol    fatty liver disease    hypercholesterolemia
    liver disease    obesity    hepatitis

    1 disease from the University of Copenhagen DISEASES database for NPC1L1:
    Fatty liver disease

    1 Novoseek disease relationship for NPC1L1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypercholesterolemia 39.7 4 19907422 (1), 16083725 (1), 19490064 (1)

    Genetic Association Database (GAD): NPC1L1
    Human Genome Epidemiology (HuGE) Navigator: NPC1L1 (18 documents)

    Export disorders for NPC1L1 gene to outside databases

    Publications
    for NPC1L1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NPC1L1 gene, integrated from 9 sources (see all 85):
    (articles sorted by number of sources associating them with NPC1L1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Compound heterozygosity for two non-synonymous polymorphisms in NPC1L1 in a non-responder to ezetimibe. (PubMed id 15679830)1, 2, 7 Wang J.... Hegele R.A. (2005)
    2. The target of ezetimibe is Niemann-Pick C1-like 1 (NPC1L1). (PubMed id 15928087)1, 2, 7 Garcia-Calvo M.... Thornberry N.A. (2005)
    3. Niemann-Pick C1 like 1 protein is critical for intestinal cholesterol absorption. (PubMed id 14976318)1, 2, 7 Altmann S.W.... Graziano M.P. (2004)
    4. Evidence for a Niemann-Pick C (NPC) gene family: identification and characterization of NPC1L1. (PubMed id 10783261)1, 2, 3 Davies J.P.... Ioannou Y.A. (2000)
    5. Novel function of Niemann-Pick C1-like 1 as a negative regulator of Niemann-Pick C2 protein. (PubMed id 22095670)1, 2 Yamanashi Y....Suzuki H. (2012)
    6. Requirement of myosin Vb.Rab11a.Rab11-FIP2 complex in cholesterol-regulated translocation of NPC1L1 to the cell surface. (PubMed id 19542231)1, 2 Chu B.B....Song B.L. (2009)
    7. Membrane topology of human NPC1L1, a key protein in e nterohepatic cholesterol absorption. (PubMed id 19325169)1, 2 Wang J....Song B.L. (2009)
    8. Sequence variation in NPC1L1 and association with improved LDL-cholesterol lowering in response to ezetimibe treatment. (PubMed id 16297596)1, 4 Simon J.S....Schadt E.E. (2005)
    9. Inactivation of NPC1L1 causes multiple lipid transport defects and protects against diet-induced hypercholesterolemia. (PubMed id 15671032)1, 2 Davies J.P.... Ioannou Y.A. (2005)
    10. Reduced cholesterol absorption upon PPARdelta activation coincides with decreased intestinal expression of NPC1L1. (PubMed id 15604518)1, 2 van der Veen J.N.... Kuipers F. (2005)

    External Searches for NPC1L1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing NPC1L1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 29881 HGNC: 7898 AceView: NPC1L1 Ensembl:ENSG00000015520 euGenes: HUgn29881
    ECgene: NPC1L1 Kegg: 29881 H-InvDB: NPC1L1

    Other Databases showing NPC1L1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NPC1L1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NPC1L1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for NPC1L1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for NPC1L1 gene:
    Search GeneIP for patents involving NPC1L1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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