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

NPC1L1 Gene

protein-coding   GIFtS: 61
GCID: GC07M044552

NPC1-Like 1

(Previous names: NPC1 (Niemann-Pick disease, type C1, gene)-like 1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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


(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 Gene:
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)

GeneCards Summary for NPC1L1 Gene: 
NPC1L1 (NPC1-like 1) is a protein-coding gene. Diseases associated with NPC1L1 include coronary heart disease, and niemann-pick disease type c1, and among its related super-pathways are Metabolic pathways and Lipoprotein metabolism. GO annotations related to this gene include myosin V binding and Rab GTPase binding. An important paralog of this gene is PTCH1.

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




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  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 plasmidNPC1L1 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     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for NPC1L1 at MOPED 

Post-translational modifications:

  • UniProtKB: Highly glycosylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UHC9

  • NPC1L1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NPC1L1 Protein Expression
    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 for NPC1L1: 
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    Novus Biologicals NPC1L1 Proteins
    Novus Biologicals NPC1L1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NPC1L1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral to membrane IDA19325169
    GO:0016324apical plasma membrane IEA--
    GO:0030659cytoplasmic vesicle membrane IEA--

    NPC1L1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR003392 Patched
     IPR000731 SSD

    Graphical View of Domain Structure for InterPro Entry Q9UHC9

    ProtoNet protein and cluster: Q9UHC9

    1 Blocks protein domain: IPB003392 Patched family

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


    NPC1L1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19542231
    GO:0008144drug binding IEA--
    GO:0008158hedgehog receptor activity IEA--
    GO:0017137Rab GTPase binding IPI19542231
    GO:0031489myosin V binding IPI19542231
         
    NPC1L1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NPC1L1:
     Decreased circadian period len 

         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

    Animal Models:
         MGI mouse knock-out Npc1l1tm1Yaio for NPC1L1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NPC1L1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NPC1L1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPC1L1 
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    hsa-miR-1266
    SwitchGear 3'UTR luciferase reporter plasmidNPC1L1 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPC1L1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPC1L1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NPC1L1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    2Lipoprotein metabolism
    Lipid digestion, mobilization, and transport0.56
    3Vitamin A and carotenoid metabolism
    Vitamin A and carotenoid metabolism
    4Trafficking of dietary sterols
    Trafficking of dietary sterols
    5Glucose / Energy Metabolism
    Glucose / Energy Metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    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:0006695cholesterol biosynthetic process IMP17140581
    GO:0015918sterol transport TAS--
    GO:0030299intestinal cholesterol absorption IMP17140581
    GO:0030301cholesterol transport IMP17140581
    GO:0042157lipoprotein metabolic process IMP17140581

    NPC1L1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NPC1L1 (NPCL1)

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

    6 Novoseek inferred 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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, 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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    hsa-miR-1266
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    Inhib. RNA
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    Additional mRNA 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):

    BM052778 BM053036 AY515256 AY437865 BM052741 BM053074 AF192523 CK903957 
    AF192522 AA294962 NM_013389 AA345201 AI702394 CD624960 BM931539 CD624959 
    CD624955 CD624965 CD624967 CD624962 BX090805 CD624953 AV655352 BV188386 

    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

    (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)      NPC1L1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTGCAGTG
    NPC1L1 Expression
    About this image


    NPC1L1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 4 entries
             ileum   
     
     Primitive Streak (Early Embryonic Tissues)
             Definitive endoderm-like cells ( Generation and expansion of endodermal progenitor...
     
     Gut Tube (Gastrointestinal Tract)
             Endoderm progenitor-like cells ( Generation and expansion of endodermal progenitor...
     
     Pancreas (Endocrine System)
     
     Liver (Hepatobiliary System)

    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

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPC1L1

    (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 animals and fungi.

    Orthologs for NPC1L1 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Npc1l11 , 5 NPC1-like 11, 5 79.97(n)1
    77.33(a)1
      11 (3.93 cM)5
    2376361  NM_207242.21  NP_997125.21 
     62110135 
    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 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NCR16
    Vacuolar membrane protein that transits through th...
    29(a)
    1 → many
    XVI(544631-548143)


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

    (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  PTCHD42  PTCHD12  
    2 SIMAP similar genes for NPC1L1 using alignment to 2 protein entries:     NPCL1_HUMAN (see all proteins):
    PTCH    NPC1

    NPC1L1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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


    10/808 SNPs in NPC1L1 are shown (see all 808)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs528150631,2,4
    C,Fdrug-response144531157(-) CACCAT/ACTCTA 4 /N /I mis14Minor allele frequency- A:0.01NA EU 5445
    rs1194579681,2
    Cdrug-response144555292(-) CCAACA/G/TTGTCC 4 V L mis11NA 4552
    VAR_0233694
    ----see VAR_0233692 V L mis40--------
    rs1487757071,2
    --44527101(+) CAAAGA/CAACAG 2 -- ds50010--------
    rs1850021401,2
    --44527172(+) GGAATC/GTTCCT 2 -- ds50010--------
    rs1902429731,2
    --44527257(+) TTGAAA/TGCACC 2 -- ds50010--------
    rs1479586471,2
    --44527502(+) TCACTC/GTCCCA 2 -- ds50010--------
    rs2021888701,2
    --44527550(+) AAACC-/GAGAGGA 2 -- ds50010--------
    rs559478121,2
    C--44527552(+) ACCGA-/GAGGAGGA 2 -- ds50010--------
    rs31879071,2
    C,F,O,H--44527667(-) GAAGCA/GTGAAC 2 -- ut3117Minor allele frequency- G:0.08NA NS EA WA 2190

    HapMap Linkage Disequilibrium report for NPC1L1 (44552134 - 44580914 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NPC1L1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv515502CNV Loss19592680
    nsv523191CNV Loss19592680


    Human Gene Mutation Database (HGMD): NPC1L1
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing NPC1L1
    DNA2.0 Custom Variant and Variant Library Synthesis for NPC1L1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608010    OMIM disorders: --

    9 diseases for NPC1L1:    About MalaCards
    coronary heart disease    niemann-pick disease type c1    niemann-pick disease    pick's disease
    fatty liver disease    hypercholesterolemia    liver disease    obesity
    hepatitis

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

    NPC1L1 for disorders           About GeneDecksing

    1 Novoseek inferred 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

    (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 88):
    (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. The g.-762T>C polymorphism of the NPC1L1 gene is common in Chinese and contributes to a higher promoter activity and higher serum cholesterol levels. (PubMed id 19265861)1, 4, 9 Chen C.W....Lai L.P. (2009)
    6. An NPC1L1 gene promoter variant is associated with au tosomal dominant hypercholesterolemia. (PubMed id 19747803)1, 4, 9 MartA-n B....Civeira F. (2010)
    7. Genetic variation at the NPC1L1 gene locus, plasma li poproteins, and heart disease risk in the elderly. (PubMed id 19752398)1, 4, 9 Polisecki E....Schaefer E.J. (2010)
    8. Association between non-responsiveness to plant sterol intervention and polymorphisms in cholesterol metabolism genes: a case-control study. (PubMed id 18641716)1, 4, 9 Rudkowska I....Jones P.J. (2008)
    9. Variation in Niemann-Pick C1-like 1 gene as a determinant of apolipoprotein B-100 kinetics and response to statin therapy in centrally obese men. (PubMed id 18031309)1, 4, 9 Chan D.C....Barrett P.H. (2008)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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